mondo_id	disease_name	join_status	n_dismech	direct_hpoa_ids	direct_n_hpoa	direct_n_exact	direct_n_more_specific	direct_n_more_general	direct_n_novel	direct_n_hpoa_only	direct_novel_terms	subtree_hpoa_ids	subtree_n_hpoa	subtree_n_exact	subtree_n_more_specific	subtree_n_more_general	subtree_n_novel	subtree_n_hpoa_only	subtree_novel_terms
MONDO:0014276	combined immunodeficiency due to CD3gamma deficiency	direct	48	OMIM:615607	19	5	4	1	38	14	HP:0000265;HP:0000821;HP:0000836;HP:0001045;HP:0001409;HP:0001648;HP:0001744;HP:0001973;HP:0002092;HP:0002099;HP:0002110;HP:0002202;HP:0002232;HP:0002716;HP:0002725;HP:0002789;HP:0002870;HP:0003212;HP:0003493;HP:0003765;HP:0004322;HP:0004385;HP:0005231;HP:0006530;HP:0011840;HP:0012579;HP:0020113;HP:0025834;HP:0031693;HP:0032140;HP:0045038;HP:0100646;HP:0100759;HP:0410378;HP:5210299;HP:5210418;HP:5210421;HP:5210426	OMIM:615607	19	5	4	1	38	14	HP:0000265;HP:0000821;HP:0000836;HP:0001045;HP:0001409;HP:0001648;HP:0001744;HP:0001973;HP:0002092;HP:0002099;HP:0002110;HP:0002202;HP:0002232;HP:0002716;HP:0002725;HP:0002789;HP:0002870;HP:0003212;HP:0003493;HP:0003765;HP:0004322;HP:0004385;HP:0005231;HP:0006530;HP:0011840;HP:0012579;HP:0020113;HP:0025834;HP:0031693;HP:0032140;HP:0045038;HP:0100646;HP:0100759;HP:0410378;HP:5210299;HP:5210418;HP:5210421;HP:5210426
MONDO:0019391	Fanconi anemia	direct	182	ORPHA:84	106	73	49	4	56	33	HP:0000054;HP:0000133;HP:0000143;HP:0000148;HP:0000155;HP:0000164;HP:0000212;HP:0000217;HP:0000230;HP:0000307;HP:0000325;HP:0000402;HP:0000413;HP:0000691;HP:0000692;HP:0000704;HP:0000716;HP:0000739;HP:0000772;HP:0000789;HP:0000798;HP:0000821;HP:0000855;HP:0000882;HP:0001385;HP:0001513;HP:0001660;HP:0001696;HP:0001734;HP:0002032;HP:0002206;HP:0002247;HP:0002566;HP:0002745;HP:0002808;HP:0002937;HP:0002949;HP:0003119;HP:0003254;HP:0003452;HP:0004452;HP:0005235;HP:0005473;HP:0005775;HP:0006660;HP:0008209;HP:0008436;HP:0009804;HP:0010462;HP:0011014;HP:0011133;HP:0011800;HP:0011968;HP:0033667;HP:0034323;HP:6001516	OMIM:227645;OMIM:227646;OMIM:227650;OMIM:300514;OMIM:600901;OMIM:603467;OMIM:605724;OMIM:609053;OMIM:609054;OMIM:610832;OMIM:613390;OMIM:613951;OMIM:614082;OMIM:614083;OMIM:615272;OMIM:616435;OMIM:617243;OMIM:617244;OMIM:617247;OMIM:617784;OMIM:617883;OMIM:621258;ORPHA:84	295	114	24	8	36	181	HP:0000133;HP:0000143;HP:0000148;HP:0000155;HP:0000212;HP:0000217;HP:0000230;HP:0000307;HP:0000402;HP:0000691;HP:0000704;HP:0000716;HP:0000739;HP:0000798;HP:0000855;HP:0000882;HP:0001385;HP:0001513;HP:0002206;HP:0002566;HP:0002745;HP:0002808;HP:0003119;HP:0003452;HP:0004452;HP:0005235;HP:0005473;HP:0005775;HP:0006660;HP:0008209;HP:0008436;HP:0010462;HP:0011014;HP:0011133;HP:0033667;HP:6001516
MONDO:0030856	developmental and epileptic encephalopathy 89	direct	60	OMIM:619124	48	18	2	4	36	30	HP:0000121;HP:0000126;HP:0000154;HP:0000218;HP:0000238;HP:0000252;HP:0000365;HP:0000400;HP:0000405;HP:0000486;HP:0000574;HP:0000666;HP:0000787;HP:0001265;HP:0001266;HP:0001324;HP:0001344;HP:0001357;HP:0001374;HP:0001508;HP:0001540;HP:0001763;HP:0002015;HP:0002019;HP:0002100;HP:0002119;HP:0002251;HP:0002376;HP:0002835;HP:0011003;HP:0011153;HP:0011968;HP:0020174;HP:0032792;HP:0032807;HP:0040019	OMIM:619124	48	18	2	4	36	30	HP:0000121;HP:0000126;HP:0000154;HP:0000218;HP:0000238;HP:0000252;HP:0000365;HP:0000400;HP:0000405;HP:0000486;HP:0000574;HP:0000666;HP:0000787;HP:0001265;HP:0001266;HP:0001324;HP:0001344;HP:0001357;HP:0001374;HP:0001508;HP:0001540;HP:0001763;HP:0002015;HP:0002019;HP:0002100;HP:0002119;HP:0002251;HP:0002376;HP:0002835;HP:0011003;HP:0011153;HP:0011968;HP:0020174;HP:0032792;HP:0032807;HP:0040019
MONDO:0015022	intellectual developmental disorder with dysmorphic facies and ptosis	direct	50	OMIM:617333	38	15	1	1	33	23	HP:0000028;HP:0000218;HP:0000278;HP:0000286;HP:0000414;HP:0000505;HP:0000539;HP:0000612;HP:0000646;HP:0000664;HP:0000708;HP:0000729;HP:0000739;HP:0000998;HP:0001138;HP:0001212;HP:0001324;HP:0001513;HP:0001595;HP:0001627;HP:0001873;HP:0001903;HP:0002019;HP:0002020;HP:0002360;HP:0004209;HP:0007018;HP:0007099;HP:0009765;HP:0010628;HP:0011098;HP:0011230;HP:0100540	OMIM:617333	38	15	1	1	33	23	HP:0000028;HP:0000218;HP:0000278;HP:0000286;HP:0000414;HP:0000505;HP:0000539;HP:0000612;HP:0000646;HP:0000664;HP:0000708;HP:0000729;HP:0000739;HP:0000998;HP:0001138;HP:0001212;HP:0001324;HP:0001513;HP:0001595;HP:0001627;HP:0001873;HP:0001903;HP:0002019;HP:0002020;HP:0002360;HP:0004209;HP:0007018;HP:0007099;HP:0009765;HP:0010628;HP:0011098;HP:0011230;HP:0100540
MONDO:0030607	Bryant-Li-Bhoj neurodevelopmental syndrome 2	direct	44	OMIM:619721	41	8	0	4	32	33	HP:0000028;HP:0000078;HP:0000219;HP:0000286;HP:0000316;HP:0000337;HP:0000431;HP:0000483;HP:0000486;HP:0000496;HP:0000717;HP:0000750;HP:0000821;HP:0001250;HP:0001257;HP:0001276;HP:0001288;HP:0001290;HP:0001363;HP:0001999;HP:0002119;HP:0002120;HP:0002376;HP:0002538;HP:0007166;HP:0007370;HP:0008936;HP:0010864;HP:0012448;HP:0031936;HP:0040010;HP:0100595	OMIM:619721	41	8	0	4	32	33	HP:0000028;HP:0000078;HP:0000219;HP:0000286;HP:0000316;HP:0000337;HP:0000431;HP:0000483;HP:0000486;HP:0000496;HP:0000717;HP:0000750;HP:0000821;HP:0001250;HP:0001257;HP:0001276;HP:0001288;HP:0001290;HP:0001363;HP:0001999;HP:0002119;HP:0002120;HP:0002376;HP:0002538;HP:0007166;HP:0007370;HP:0008936;HP:0010864;HP:0012448;HP:0031936;HP:0040010;HP:0100595
MONDO:0014162	infantile hypertrophic cardiomyopathy due to MRPL44 deficiency	direct	32	OMIM:615395	9	1	0	2	29	8	HP:0000083;HP:0000580;HP:0001251;HP:0001254;HP:0001257;HP:0001269;HP:0001289;HP:0001324;HP:0001399;HP:0001508;HP:0001635;HP:0001640;HP:0001712;HP:0001943;HP:0001987;HP:0002045;HP:0002076;HP:0002615;HP:0002878;HP:0002883;HP:0003128;HP:0003198;HP:0003546;HP:0008872;HP:0012378;HP:0012418;HP:0030149;HP:0033051;HP:0100543	OMIM:615395	9	1	0	2	29	8	HP:0000083;HP:0000580;HP:0001251;HP:0001254;HP:0001257;HP:0001269;HP:0001289;HP:0001324;HP:0001399;HP:0001508;HP:0001635;HP:0001640;HP:0001712;HP:0001943;HP:0001987;HP:0002045;HP:0002076;HP:0002615;HP:0002878;HP:0002883;HP:0003128;HP:0003198;HP:0003546;HP:0008872;HP:0012378;HP:0012418;HP:0030149;HP:0033051;HP:0100543
MONDO:0859245	spinocerebellar ataxia, autosomal recessive 32	direct	42	OMIM:619862	20	9	0	5	28	11	HP:0000054;HP:0000602;HP:0000853;HP:0001252;HP:0001263;HP:0001265;HP:0001310;HP:0001347;HP:0001621;HP:0002063;HP:0002073;HP:0002075;HP:0002078;HP:0002359;HP:0002375;HP:0003487;HP:0003546;HP:0003688;HP:0007141;HP:0012715;HP:0025379;HP:0032069;HP:0033192;HP:0040171;HP:0100321;HP:0100543;HP:0100851;HP:5200310	OMIM:619862	20	9	0	5	28	11	HP:0000054;HP:0000602;HP:0000853;HP:0001252;HP:0001263;HP:0001265;HP:0001310;HP:0001347;HP:0001621;HP:0002063;HP:0002073;HP:0002075;HP:0002078;HP:0002359;HP:0002375;HP:0003487;HP:0003546;HP:0003688;HP:0007141;HP:0012715;HP:0025379;HP:0032069;HP:0033192;HP:0040171;HP:0100321;HP:0100543;HP:0100851;HP:5200310
MONDO:0013787	psychomotor retardation, epilepsy, and craniofacial dysmorphism	direct	53	OMIM:614501	31	23	0	3	27	8	HP:0000175;HP:0000201;HP:0000405;HP:0000520;HP:0000637;HP:0000717;HP:0000767;HP:0000821;HP:0001156;HP:0001249;HP:0001363;HP:0001800;HP:0002020;HP:0002104;HP:0002144;HP:0002360;HP:0002376;HP:0002510;HP:0002566;HP:0002650;HP:0002676;HP:0002835;HP:0007018;HP:0011664;HP:0011800;HP:0020174;HP:0100842	OMIM:614501	31	23	0	3	27	8	HP:0000175;HP:0000201;HP:0000405;HP:0000520;HP:0000637;HP:0000717;HP:0000767;HP:0000821;HP:0001156;HP:0001249;HP:0001363;HP:0001800;HP:0002020;HP:0002104;HP:0002144;HP:0002360;HP:0002376;HP:0002510;HP:0002566;HP:0002650;HP:0002676;HP:0002835;HP:0007018;HP:0011664;HP:0011800;HP:0020174;HP:0100842
MONDO:0019154	androgen insensitivity syndrome	direct	41	OMIM:300068	14	7	4	3	27	7	HP:0000027;HP:0000047;HP:0000048;HP:0000051;HP:0000054;HP:0000062;HP:0000151;HP:0000716;HP:0000739;HP:0001061;HP:0001620;HP:0002221;HP:0002555;HP:0003251;HP:0008189;HP:0008655;HP:0008665;HP:0008689;HP:0010463;HP:0012888;HP:0025132;HP:0025134;HP:0025486;HP:0030088;HP:0031102;HP:0040307;HP:0100779	OMIM:300068;OMIM:312300;ORPHA:90797;ORPHA:99429	54	41	0	0	0	13	
MONDO:0044640	Charcot-Marie-Tooth disease type 2T	direct	33	OMIM:617017	14	4	0	3	26	10	HP:0000365;HP:0001251;HP:0001761;HP:0001765;HP:0002359;HP:0002378;HP:0002411;HP:0003236;HP:0003376;HP:0003394;HP:0003401;HP:0003445;HP:0003477;HP:0003546;HP:0007078;HP:0007289;HP:0008956;HP:0008994;HP:0012185;HP:0012514;HP:0012548;HP:0012595;HP:0025268;HP:0033383;HP:0040329;HP:0100661	OMIM:617017	14	4	0	3	26	10	HP:0000365;HP:0001251;HP:0001761;HP:0001765;HP:0002359;HP:0002378;HP:0002411;HP:0003236;HP:0003376;HP:0003394;HP:0003401;HP:0003445;HP:0003477;HP:0003546;HP:0007078;HP:0007289;HP:0008956;HP:0008994;HP:0012185;HP:0012514;HP:0012548;HP:0012595;HP:0025268;HP:0033383;HP:0040329;HP:0100661
MONDO:0009613	methylmalonic aciduria, cblA type	direct	40	OMIM:251100	33	12	1	3	24	21	HP:0000505;HP:0000648;HP:0000822;HP:0000938;HP:0000939;HP:0001249;HP:0001251;HP:0001257;HP:0001266;HP:0001332;HP:0001657;HP:0001678;HP:0001712;HP:0001970;HP:0002045;HP:0002059;HP:0002071;HP:0002119;HP:0002149;HP:0002376;HP:0002910;HP:0003074;HP:0004322;HP:0031987	OMIM:251100	33	12	1	3	24	21	HP:0000505;HP:0000648;HP:0000822;HP:0000938;HP:0000939;HP:0001249;HP:0001251;HP:0001257;HP:0001266;HP:0001332;HP:0001657;HP:0001678;HP:0001712;HP:0001970;HP:0002045;HP:0002059;HP:0002071;HP:0002119;HP:0002149;HP:0002376;HP:0002910;HP:0003074;HP:0004322;HP:0031987
MONDO:0030356	short-rib thoracic dysplasia 21 without polydactyly	direct	51	OMIM:619479	37	24	1	2	24	13	HP:0000028;HP:0000256;HP:0000347;HP:0000405;HP:0000463;HP:0000548;HP:0000639;HP:0000767;HP:0000768;HP:0000773;HP:0001263;HP:0001320;HP:0002089;HP:0002092;HP:0002240;HP:0002376;HP:0002783;HP:0002970;HP:0003025;HP:0008445;HP:0010296;HP:0010579;HP:0012265;HP:0100559	OMIM:619479	37	24	1	2	24	13	HP:0000028;HP:0000256;HP:0000347;HP:0000405;HP:0000463;HP:0000548;HP:0000639;HP:0000767;HP:0000768;HP:0000773;HP:0001263;HP:0001320;HP:0002089;HP:0002092;HP:0002240;HP:0002376;HP:0002783;HP:0002970;HP:0003025;HP:0008445;HP:0010296;HP:0010579;HP:0012265;HP:0100559
MONDO:0009073	Ritscher-Schinzel syndrome 1	direct	47	OMIM:220210	36	19	0	5	23	17	HP:0000218;HP:0000256;HP:0000319;HP:0000322;HP:0000396;HP:0000485;HP:0000954;HP:0001249;HP:0001513;HP:0001792;HP:0001838;HP:0001999;HP:0002066;HP:0002280;HP:0002721;HP:0002870;HP:0003124;HP:0005916;HP:0010557;HP:0010808;HP:0010880;HP:0012368;HP:0012385	OMIM:220210	36	19	0	5	23	17	HP:0000218;HP:0000256;HP:0000319;HP:0000322;HP:0000396;HP:0000485;HP:0000954;HP:0001249;HP:0001513;HP:0001792;HP:0001838;HP:0001999;HP:0002066;HP:0002280;HP:0002721;HP:0002870;HP:0003124;HP:0005916;HP:0010557;HP:0010808;HP:0010880;HP:0012368;HP:0012385
MONDO:0014336	intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	direct	40	OMIM:615761	40	15	0	2	23	25	HP:0000023;HP:0000505;HP:0000709;HP:0000733;HP:0000739;HP:0001250;HP:0001252;HP:0001288;HP:0001510;HP:0001627;HP:0001999;HP:0002019;HP:0002072;HP:0002487;HP:0003189;HP:0007018;HP:0007021;HP:0007359;HP:0009763;HP:0011024;HP:0011097;HP:0011220;HP:0011834	OMIM:615761	40	15	0	2	23	25	HP:0000023;HP:0000505;HP:0000709;HP:0000733;HP:0000739;HP:0001250;HP:0001252;HP:0001288;HP:0001510;HP:0001627;HP:0001999;HP:0002019;HP:0002072;HP:0002487;HP:0003189;HP:0007018;HP:0007021;HP:0007359;HP:0009763;HP:0011024;HP:0011097;HP:0011220;HP:0011834
MONDO:0032894	neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy	direct	35	OMIM:618741	14	5	5	2	23	9	HP:0000293;HP:0000307;HP:0000505;HP:0000574;HP:0000639;HP:0000648;HP:0001251;HP:0001332;HP:0001337;HP:0001344;HP:0001347;HP:0001508;HP:0002119;HP:0002151;HP:0002353;HP:0002376;HP:0002500;HP:0002510;HP:0002540;HP:0002719;HP:0003236;HP:0012448;HP:0033725	OMIM:618741	14	5	5	2	23	9	HP:0000293;HP:0000307;HP:0000505;HP:0000574;HP:0000639;HP:0000648;HP:0001251;HP:0001332;HP:0001337;HP:0001344;HP:0001347;HP:0001508;HP:0002119;HP:0002151;HP:0002353;HP:0002376;HP:0002500;HP:0002510;HP:0002540;HP:0002719;HP:0003236;HP:0012448;HP:0033725
MONDO:0032919	intellectual developmental disorder 62	direct	32	OMIM:618793	14	7	2	0	23	7	HP:0000218;HP:0000276;HP:0000540;HP:0000639;HP:0000709;HP:0000718;HP:0000733;HP:0000739;HP:0000750;HP:0000767;HP:0001251;HP:0001252;HP:0001263;HP:0001332;HP:0001337;HP:0002013;HP:0002076;HP:0002360;HP:0002376;HP:0007018;HP:0031491;HP:0100704;HP:0100716	OMIM:618793	14	7	2	0	23	7	HP:0000218;HP:0000276;HP:0000540;HP:0000639;HP:0000709;HP:0000718;HP:0000733;HP:0000739;HP:0000750;HP:0000767;HP:0001251;HP:0001252;HP:0001263;HP:0001332;HP:0001337;HP:0002013;HP:0002076;HP:0002360;HP:0002376;HP:0007018;HP:0031491;HP:0100704;HP:0100716
MONDO:0013118	Nijmegen breakage syndrome-like disorder	direct	28	OMIM:613078	11	3	3	1	21	8	HP:0000028;HP:0000278;HP:0000340;HP:0000347;HP:0000518;HP:0000957;HP:0001000;HP:0001156;HP:0001508;HP:0001873;HP:0001875;HP:0001888;HP:0001903;HP:0001915;HP:0002164;HP:0002721;HP:0002745;HP:0005528;HP:0006480;HP:0010976;HP:0011133	OMIM:613078	11	3	3	1	21	8	HP:0000028;HP:0000278;HP:0000340;HP:0000347;HP:0000518;HP:0000957;HP:0001000;HP:0001156;HP:0001508;HP:0001873;HP:0001875;HP:0001888;HP:0001903;HP:0001915;HP:0002164;HP:0002721;HP:0002745;HP:0005528;HP:0006480;HP:0010976;HP:0011133
MONDO:0011925	congenital merosin-deficient muscular dystrophy 1A	direct	47	OMIM:607855;ORPHA:258	64	15	7	5	20	49	HP:0000238;HP:0000767;HP:0000768;HP:0002091;HP:0002280;HP:0002756;HP:0002827;HP:0002987;HP:0003306;HP:0003431;HP:0004349;HP:0006380;HP:0012110;HP:0012785;HP:0020025;HP:0025258;HP:0030890;HP:0033044;HP:0033140;HP:0034677	OMIM:607855;ORPHA:258	64	15	7	5	20	49	HP:0000238;HP:0000767;HP:0000768;HP:0002091;HP:0002280;HP:0002756;HP:0002827;HP:0002987;HP:0003306;HP:0003431;HP:0004349;HP:0006380;HP:0012110;HP:0012785;HP:0020025;HP:0025258;HP:0030890;HP:0033044;HP:0033140;HP:0034677
MONDO:0014376	intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism	direct	32	OMIM:615866	42	7	1	4	20	35	HP:0000028;HP:0000044;HP:0000054;HP:0000175;HP:0000407;HP:0000458;HP:0000568;HP:0000589;HP:0000612;HP:0000657;HP:0000729;HP:0000786;HP:0000821;HP:0001263;HP:0001320;HP:0001680;HP:0002474;HP:0007018;HP:0034585;HP:0040326	OMIM:615866	42	7	1	4	20	35	HP:0000028;HP:0000044;HP:0000054;HP:0000175;HP:0000407;HP:0000458;HP:0000568;HP:0000589;HP:0000612;HP:0000657;HP:0000729;HP:0000786;HP:0000821;HP:0001263;HP:0001320;HP:0001680;HP:0002474;HP:0007018;HP:0034585;HP:0040326
MONDO:0002413	glycogen storage disease I	direct	27	ORPHA:364	11	6	2	0	19	5	HP:0000083;HP:0000093;HP:0000105;HP:0000132;HP:0000155;HP:0000421;HP:0000822;HP:0000823;HP:0000939;HP:0001397;HP:0001733;HP:0001875;HP:0001903;HP:0001997;HP:0002014;HP:0002092;HP:0002240;HP:0003128;HP:0012028	OMIM:232200;OMIM:232220;OMIM:232240;ORPHA:364;ORPHA:79259	95	27	0	0	0	68	
MONDO:0007079	alcohol dependence	direct	21	OMIM:103780	2	1	0	1	19	1	HP:0000716;HP:0000738;HP:0000739;HP:0001033;HP:0001251;HP:0001337;HP:0001394;HP:0001397;HP:0001644;HP:0001649;HP:0001733;HP:0002017;HP:0002069;HP:0002354;HP:0009830;HP:0031258;HP:0033051;HP:0100785;HP:6000028	OMIM:103780	2	1	0	1	19	1	HP:0000716;HP:0000738;HP:0000739;HP:0001033;HP:0001251;HP:0001337;HP:0001394;HP:0001397;HP:0001644;HP:0001649;HP:0001733;HP:0002017;HP:0002069;HP:0002354;HP:0009830;HP:0031258;HP:0033051;HP:0100785;HP:6000028
MONDO:0013968	PGM1-congenital disorder of glycosylation	direct	34	OMIM:614921	47	14	0	2	18	33	HP:0000044;HP:0000486;HP:0000496;HP:0000579;HP:0000825;HP:0000846;HP:0001249;HP:0001250;HP:0001508;HP:0001654;HP:0002023;HP:0002925;HP:0003115;HP:0006554;HP:0008465;HP:0009926;HP:0034323;HP:4000141	OMIM:614921	47	14	0	2	18	33	HP:0000044;HP:0000486;HP:0000496;HP:0000579;HP:0000825;HP:0000846;HP:0001249;HP:0001250;HP:0001508;HP:0001654;HP:0002023;HP:0002925;HP:0003115;HP:0006554;HP:0008465;HP:0009926;HP:0034323;HP:4000141
MONDO:0019169	pyruvate dehydrogenase deficiency	direct	55	ORPHA:765	35	35	2	0	18	0	HP:0000546;HP:0000708;HP:0001399;HP:0001943;HP:0002013;HP:0002151;HP:0002180;HP:0002240;HP:0002395;HP:0002454;HP:0002480;HP:0002910;HP:0002928;HP:0003128;HP:0003542;HP:0008344;HP:0100503;HP:0100724	OMIM:245348;OMIM:245349;OMIM:246900;OMIM:312170;OMIM:608782;OMIM:614111;OMIM:614462;ORPHA:2394;ORPHA:255138;ORPHA:255182;ORPHA:765;ORPHA:79243;ORPHA:79244;ORPHA:79246	215	55	0	0	0	160	
MONDO:0026729	congenital disorder of glycosylation, type ICC	direct	20	OMIM:301031	5	2	0	0	18	3	HP:0000155;HP:0001744;HP:0001873;HP:0001875;HP:0001973;HP:0002389;HP:0002665;HP:0002716;HP:0002720;HP:0002851;HP:0002910;HP:0003236;HP:0004315;HP:0005404;HP:0005425;HP:0032163;HP:0032204;HP:0032218	OMIM:301031	5	2	0	0	18	3	HP:0000155;HP:0001744;HP:0001873;HP:0001875;HP:0001973;HP:0002389;HP:0002665;HP:0002716;HP:0002720;HP:0002851;HP:0002910;HP:0003236;HP:0004315;HP:0005404;HP:0005425;HP:0032163;HP:0032204;HP:0032218
MONDO:0030852	neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities	direct	47	OMIM:619103	40	21	0	8	18	19	HP:0000218;HP:0000286;HP:0000365;HP:0000729;HP:0000824;HP:0000954;HP:0001156;HP:0001252;HP:0002015;HP:0002019;HP:0002020;HP:0002376;HP:0002463;HP:0002714;HP:0010627;HP:0010780;HP:0011968;HP:0030084	OMIM:619103	40	21	0	8	18	19	HP:0000218;HP:0000286;HP:0000365;HP:0000729;HP:0000824;HP:0000954;HP:0001156;HP:0001252;HP:0002015;HP:0002019;HP:0002020;HP:0002376;HP:0002463;HP:0002714;HP:0010627;HP:0010780;HP:0011968;HP:0030084
MONDO:0032650	neurodegeneration, childhood-onset, with cerebellar atrophy	direct	38	OMIM:618276	34	15	2	3	18	19	HP:0000365;HP:0000657;HP:0001249;HP:0001250;HP:0001284;HP:0001315;HP:0001612;HP:0001644;HP:0001888;HP:0002015;HP:0002180;HP:0002340;HP:0002378;HP:0002398;HP:0002835;HP:0005359;HP:0031982;HP:0033725	OMIM:618276	34	15	2	3	18	19	HP:0000365;HP:0000657;HP:0001249;HP:0001250;HP:0001284;HP:0001315;HP:0001612;HP:0001644;HP:0001888;HP:0002015;HP:0002180;HP:0002340;HP:0002378;HP:0002398;HP:0002835;HP:0005359;HP:0031982;HP:0033725
MONDO:0044319	intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies	direct	33	OMIM:617452;ORPHA:505237	62	10	1	4	18	52	HP:0000319;HP:0000639;HP:0000678;HP:0000680;HP:0000821;HP:0000966;HP:0000977;HP:0001212;HP:0001335;HP:0001572;HP:0003468;HP:0004313;HP:0004426;HP:0006237;HP:0006482;HP:0007766;HP:0010442;HP:0100539	OMIM:617452;ORPHA:505237	62	10	1	4	18	52	HP:0000319;HP:0000639;HP:0000678;HP:0000680;HP:0000821;HP:0000966;HP:0000977;HP:0001212;HP:0001335;HP:0001572;HP:0003468;HP:0004313;HP:0004426;HP:0006237;HP:0006482;HP:0007766;HP:0010442;HP:0100539
MONDO:0018485	glycogen storage disease due to acid maltase deficiency, late-onset	direct	18	OMIM:621314	16	1	0	0	17	15	HP:0000020;HP:0000939;HP:0001297;HP:0002015;HP:0002019;HP:0002020;HP:0002650;HP:0002747;HP:0002877;HP:0003326;HP:0003327;HP:0003546;HP:0003701;HP:0004944;HP:0012727;HP:0020038;HP:0030890	OMIM:621314	16	1	0	0	17	15	HP:0000020;HP:0000939;HP:0001297;HP:0002015;HP:0002019;HP:0002020;HP:0002650;HP:0002747;HP:0002877;HP:0003326;HP:0003327;HP:0003546;HP:0003701;HP:0004944;HP:0012727;HP:0020038;HP:0030890
MONDO:0032703	short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis	direct	33	OMIM:618363	38	12	1	3	17	26	HP:0000508;HP:0000540;HP:0000648;HP:0000687;HP:0000691;HP:0001156;HP:0001256;HP:0001511;HP:0001631;HP:0001655;HP:0002999;HP:0003316;HP:0004349;HP:0006285;HP:0011645;HP:0012095;HP:0012368	OMIM:618363	38	12	1	3	17	26	HP:0000508;HP:0000540;HP:0000648;HP:0000687;HP:0000691;HP:0001156;HP:0001256;HP:0001511;HP:0001631;HP:0001655;HP:0002999;HP:0003316;HP:0004349;HP:0006285;HP:0011645;HP:0012095;HP:0012368
MONDO:0054697	immunodeficiency 11b with atopic dermatitis	direct	25	OMIM:617638	14	6	0	2	17	8	HP:0000155;HP:0001025;HP:0001508;HP:0001581;HP:0001875;HP:0001999;HP:0002205;HP:0002860;HP:0002960;HP:0003193;HP:0004429;HP:0011109;HP:0012475;HP:0020113;HP:0031381;HP:0100845;HP:0410151	OMIM:617638	14	6	0	2	17	8	HP:0000155;HP:0001025;HP:0001508;HP:0001581;HP:0001875;HP:0001999;HP:0002205;HP:0002860;HP:0002960;HP:0003193;HP:0004429;HP:0011109;HP:0012475;HP:0020113;HP:0031381;HP:0100845;HP:0410151
MONDO:0008681	WAGR syndrome	direct	35	OMIM:194072;ORPHA:893	30	10	2	2	21	20	HP:0000010;HP:0000481;HP:0000609;HP:0000717;HP:0000739;HP:0000750;HP:0000822;HP:0001132;HP:0001250;HP:0001252;HP:0001263;HP:0001627;HP:0002019;HP:0002591;HP:0002719;HP:0002870;HP:0007018;HP:0007750;HP:0008643;HP:0011968;HP:0100880	OMIM:194072;OMIM:612469;ORPHA:893	55	13	3	3	16	42	HP:0000010;HP:0000609;HP:0000750;HP:0001132;HP:0001250;HP:0001252;HP:0001263;HP:0001627;HP:0002019;HP:0002719;HP:0002870;HP:0007018;HP:0007750;HP:0008643;HP:0011968;HP:0100880
MONDO:0013186	Noonan syndrome 6	direct	48	OMIM:613224	50	23	5	4	16	27	HP:0000476;HP:0000825;HP:0000995;HP:0001256;HP:0001328;HP:0001629;HP:0001643;HP:0001999;HP:0002781;HP:0005547;HP:0006743;HP:0010864;HP:0010946;HP:0012286;HP:0034250;HP:0045075	OMIM:613224	50	23	5	4	16	27	HP:0000476;HP:0000825;HP:0000995;HP:0001256;HP:0001328;HP:0001629;HP:0001643;HP:0001999;HP:0002781;HP:0005547;HP:0006743;HP:0010864;HP:0010946;HP:0012286;HP:0034250;HP:0045075
MONDO:0013223	autosomal recessive spondylometaphyseal dysplasia, Megarbane type	direct	42	OMIM:613320	44	22	3	1	16	22	HP:0000887;HP:0001264;HP:0001511;HP:0001538;HP:0001607;HP:0001635;HP:0001638;HP:0002093;HP:0002176;HP:0002540;HP:0002751;HP:0003414;HP:0008445;HP:0008486;HP:0008517;HP:0034374	OMIM:613320	44	22	3	1	16	22	HP:0000887;HP:0001264;HP:0001511;HP:0001538;HP:0001607;HP:0001635;HP:0001638;HP:0002093;HP:0002176;HP:0002540;HP:0002751;HP:0003414;HP:0008445;HP:0008486;HP:0008517;HP:0034374
MONDO:0014229	microphthalmia, syndromic 12	direct	22	OMIM:615524	19	5	0	1	16	14	HP:0000122;HP:0000526;HP:0000589;HP:0000659;HP:0000750;HP:0001250;HP:0001252;HP:0001257;HP:0001263;HP:0001270;HP:0001332;HP:0002072;HP:0007099;HP:0007957;HP:0011968;HP:0033725	OMIM:615524	19	5	0	1	16	14	HP:0000122;HP:0000526;HP:0000589;HP:0000659;HP:0000750;HP:0001250;HP:0001252;HP:0001257;HP:0001263;HP:0001270;HP:0001332;HP:0002072;HP:0007099;HP:0007957;HP:0011968;HP:0033725
MONDO:0014679	polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis	direct	20	OMIM:616531	18	4	0	0	16	14	HP:0000252;HP:0000639;HP:0001249;HP:0001250;HP:0001251;HP:0001252;HP:0001263;HP:0001882;HP:0002037;HP:0002061;HP:0003429;HP:0004797;HP:0005387;HP:0011968;HP:0033725;HP:0100321	OMIM:616531	18	4	0	0	16	14	HP:0000252;HP:0000639;HP:0001249;HP:0001250;HP:0001251;HP:0001252;HP:0001263;HP:0001882;HP:0002037;HP:0002061;HP:0003429;HP:0004797;HP:0005387;HP:0011968;HP:0033725;HP:0100321
MONDO:0030918	intellectual disability, autosomal dominant 52	direct	55	OMIM:617796	59	24	9	6	16	35	HP:0000716;HP:0000767;HP:0001270;HP:0001288;HP:0001310;HP:0001510;HP:0001999;HP:0002013;HP:0002020;HP:0002066;HP:0002311;HP:0002354;HP:0011024;HP:0030263;HP:0034372;HP:6001483	OMIM:617796	59	24	9	6	16	35	HP:0000716;HP:0000767;HP:0001270;HP:0001288;HP:0001310;HP:0001510;HP:0001999;HP:0002013;HP:0002020;HP:0002066;HP:0002311;HP:0002354;HP:0011024;HP:0030263;HP:0034372;HP:6001483
MONDO:0030994	neurodevelopmental disorder with or without autism or seizures	direct	27	OMIM:619239	24	3	4	4	16	21	HP:0000307;HP:0000348;HP:0001252;HP:0001263;HP:0001321;HP:0001332;HP:0001337;HP:0001511;HP:0001999;HP:0002020;HP:0002119;HP:0002376;HP:0004209;HP:0004322;HP:0010880;HP:0100543	OMIM:619239	24	3	4	4	16	21	HP:0000307;HP:0000348;HP:0001252;HP:0001263;HP:0001321;HP:0001332;HP:0001337;HP:0001511;HP:0001999;HP:0002020;HP:0002119;HP:0002376;HP:0004209;HP:0004322;HP:0010880;HP:0100543
MONDO:0010590	FG syndrome 1	direct	56	OMIM:305450;ORPHA:93932	113	31	4	6	15	82	HP:0000107;HP:0000268;HP:0000369;HP:0000411;HP:0000718;HP:0000739;HP:0000787;HP:0001385;HP:0001999;HP:0002360;HP:0003468;HP:0006394;HP:0011968;HP:0100710;HP:0400005	OMIM:305450;ORPHA:93932	113	31	4	6	15	82	HP:0000107;HP:0000268;HP:0000369;HP:0000411;HP:0000718;HP:0000739;HP:0000787;HP:0001385;HP:0001999;HP:0002360;HP:0003468;HP:0006394;HP:0011968;HP:0100710;HP:0400005
MONDO:0011555	radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome	direct	27	ORPHA:71289	6	2	0	2	23	4	HP:0000077;HP:0000967;HP:0001263;HP:0001508;HP:0001597;HP:0001629;HP:0001790;HP:0001876;HP:0001892;HP:0001903;HP:0001915;HP:0002092;HP:0002170;HP:0002616;HP:0002719;HP:0002863;HP:0004220;HP:0004313;HP:0005528;HP:0005548;HP:0006394;HP:0006498;HP:0010976	OMIM:605432;OMIM:616738;ORPHA:71289	29	8	1	3	15	21	HP:0000077;HP:0001263;HP:0001508;HP:0001597;HP:0001629;HP:0002092;HP:0002170;HP:0002616;HP:0002719;HP:0002863;HP:0004220;HP:0004313;HP:0005528;HP:0006498;HP:0010976
MONDO:0013757	congenital nongoitrous hypothyroidism 6	direct	22	OMIM:614450	21	5	1	1	15	16	HP:0000280;HP:0000750;HP:0001250;HP:0001256;HP:0001263;HP:0001270;HP:0001397;HP:0001476;HP:0001662;HP:0002066;HP:0002656;HP:0003124;HP:0003236;HP:0004437;HP:0010609	OMIM:614450	21	5	1	1	15	16	HP:0000280;HP:0000750;HP:0001250;HP:0001256;HP:0001263;HP:0001270;HP:0001397;HP:0001476;HP:0001662;HP:0002066;HP:0002656;HP:0003124;HP:0003236;HP:0004437;HP:0010609
MONDO:0014248	autism spectrum disorder - epilepsy - arthrogryposis syndrome	direct	24	OMIM:615553;ORPHA:370943	22	4	2	3	15	18	HP:0000175;HP:0000627;HP:0001643;HP:0001655;HP:0001838;HP:0001999;HP:0002445;HP:0002983;HP:0003422;HP:0004684;HP:0005684;HP:0006150;HP:0010851;HP:0012469;HP:0200134	OMIM:615553;ORPHA:370943	22	4	2	3	15	18	HP:0000175;HP:0000627;HP:0001643;HP:0001655;HP:0001838;HP:0001999;HP:0002445;HP:0002983;HP:0003422;HP:0004684;HP:0005684;HP:0006150;HP:0010851;HP:0012469;HP:0200134
MONDO:0032485	intellectual developmental disorder 61	direct	28	OMIM:618009	20	6	1	6	15	14	HP:0000238;HP:0000252;HP:0000256;HP:0000407;HP:0000587;HP:0000924;HP:0001105;HP:0001249;HP:0001273;HP:0001510;HP:0001627;HP:0001639;HP:0002251;HP:0011069;HP:0012469	OMIM:618009	20	6	1	6	15	14	HP:0000238;HP:0000252;HP:0000256;HP:0000407;HP:0000587;HP:0000924;HP:0001105;HP:0001249;HP:0001273;HP:0001510;HP:0001627;HP:0001639;HP:0002251;HP:0011069;HP:0012469
MONDO:0032808	developmental and epileptic encephalopathy, 77	direct	23	OMIM:618548	37	5	0	3	15	32	HP:0000158;HP:0000194;HP:0000768;HP:0001251;HP:0001263;HP:0001272;HP:0001290;HP:0002059;HP:0002580;HP:0003201;HP:0003236;HP:0011675;HP:0012448;HP:0012469;HP:0200134	OMIM:618548	37	5	0	3	15	32	HP:0000158;HP:0000194;HP:0000768;HP:0001251;HP:0001263;HP:0001272;HP:0001290;HP:0002059;HP:0002580;HP:0003201;HP:0003236;HP:0011675;HP:0012448;HP:0012469;HP:0200134
MONDO:0957397	intellectual developmental disorder, autosomal dominant 72	direct	28	OMIM:620439	35	11	1	1	15	24	HP:0000400;HP:0000822;HP:0001182;HP:0001250;HP:0001635;HP:0001773;HP:0001999;HP:0002020;HP:0002789;HP:0003077;HP:0010055;HP:0010535;HP:0025252;HP:0100033;HP:0200055	OMIM:620439	35	11	1	1	15	24	HP:0000400;HP:0000822;HP:0001182;HP:0001250;HP:0001635;HP:0001773;HP:0001999;HP:0002020;HP:0002789;HP:0003077;HP:0010055;HP:0010535;HP:0025252;HP:0100033;HP:0200055
MONDO:0020831	congenital vertebral-cardiac-renal anomalies syndrome	subtree_only	30									OMIM:617660;OMIM:617661;OMIM:618845	49	10	1	4	15	39	HP:0000110;HP:0000476;HP:0000478;HP:0000486;HP:0000508;HP:0000821;HP:0000829;HP:0001250;HP:0001748;HP:0001999;HP:0002021;HP:0002575;HP:0002650;HP:0002813;HP:0011123
MONDO:0008005	cardiospondylocarpofacial syndrome	direct	41	OMIM:157800;ORPHA:3238	64	21	1	5	14	43	HP:0000028;HP:0000494;HP:0000750;HP:0001256;HP:0001263;HP:0001644;HP:0001763;HP:0001999;HP:0002092;HP:0002576;HP:0002579;HP:0010296;HP:0011675;HP:0410263	OMIM:157800;ORPHA:3238	64	21	1	5	14	43	HP:0000028;HP:0000494;HP:0000750;HP:0001256;HP:0001263;HP:0001644;HP:0001763;HP:0001999;HP:0002092;HP:0002576;HP:0002579;HP:0010296;HP:0011675;HP:0410263
MONDO:0009528	chylomicron retention disease	direct	25	OMIM:246700;ORPHA:71	29	10	1	0	14	19	HP:0000512;HP:0000639;HP:0001251;HP:0002240;HP:0002750;HP:0003233;HP:0003236;HP:0004349;HP:0004905;HP:0008151;HP:0012664;HP:0034075;HP:0100512;HP:0100513	OMIM:246700;ORPHA:71	29	10	1	0	14	19	HP:0000512;HP:0000639;HP:0001251;HP:0002240;HP:0002750;HP:0003233;HP:0003236;HP:0004349;HP:0004905;HP:0008151;HP:0012664;HP:0034075;HP:0100512;HP:0100513
MONDO:0009561	alpha-mannosidosis	direct	64	OMIM:248500;ORPHA:61	87	42	3	5	14	45	HP:0000486;HP:0000540;HP:0000545;HP:0000736;HP:0000750;HP:0001270;HP:0001328;HP:0002090;HP:0002721;HP:0003198;HP:0010471;HP:0011334;HP:0025406;HP:0031123	OMIM:248500;ORPHA:309282;ORPHA:309288;ORPHA:61	152	64	0	0	0	88	
MONDO:0013977	combined oxidative phosphorylation defect type 13	direct	24	OMIM:614932;ORPHA:319514	46	8	1	1	14	38	HP:0000252;HP:0000505;HP:0000648;HP:0001250;HP:0001251;HP:0001257;HP:0001263;HP:0001639;HP:0002015;HP:0002352;HP:0002376;HP:0003128;HP:0003477;HP:0012469	OMIM:614932;ORPHA:319514	46	8	1	1	14	38	HP:0000252;HP:0000505;HP:0000648;HP:0001250;HP:0001251;HP:0001257;HP:0001263;HP:0001639;HP:0002015;HP:0002352;HP:0002376;HP:0003128;HP:0003477;HP:0012469
MONDO:0014292	leukoencephalopathy with mild cerebellar ataxia and white matter edema	direct	21	OMIM:615651	15	5	0	2	14	10	HP:0000027;HP:0000360;HP:0000365;HP:0000639;HP:0000648;HP:0000716;HP:0001250;HP:0001257;HP:0001263;HP:0002168;HP:0002321;HP:0003251;HP:0007166;HP:0100543	OMIM:615651	15	5	0	2	14	10	HP:0000027;HP:0000360;HP:0000365;HP:0000639;HP:0000648;HP:0000716;HP:0001250;HP:0001257;HP:0001263;HP:0002168;HP:0002321;HP:0003251;HP:0007166;HP:0100543
MONDO:0014599	intellectual disability, autosomal dominant 34	direct	22	OMIM:616351	26	3	0	5	14	23	HP:0000717;HP:0000718;HP:0000750;HP:0001270;HP:0001272;HP:0001508;HP:0001999;HP:0002119;HP:0007018;HP:0007328;HP:0011968;HP:0012448;HP:0033725;HP:0100716	OMIM:616351	26	3	0	5	14	23	HP:0000717;HP:0000718;HP:0000750;HP:0001270;HP:0001272;HP:0001508;HP:0001999;HP:0002119;HP:0007018;HP:0007328;HP:0011968;HP:0012448;HP:0033725;HP:0100716
MONDO:0032721	spondyloepiphyseal dysplasia, kondo-fu type	direct	23	OMIM:618392	20	9	0	0	14	11	HP:0000154;HP:0000278;HP:0000767;HP:0001249;HP:0001250;HP:0001263;HP:0001363;HP:0001385;HP:0002650;HP:0002651;HP:0003270;HP:0010049;HP:0010743;HP:0034271	OMIM:618392	20	9	0	0	14	11	HP:0000154;HP:0000278;HP:0000767;HP:0001249;HP:0001250;HP:0001263;HP:0001363;HP:0001385;HP:0002650;HP:0002651;HP:0003270;HP:0010049;HP:0010743;HP:0034271
MONDO:0859224	intellectual disability and myopathy syndrome	direct	29	OMIM:619719	34	11	1	3	14	23	HP:0000252;HP:0000407;HP:0000726;HP:0001249;HP:0001250;HP:0001257;HP:0001263;HP:0001273;HP:0001324;HP:0003388;HP:0003394;HP:0004322;HP:0006970;HP:0011968	OMIM:619719	34	11	1	3	14	23	HP:0000252;HP:0000407;HP:0000726;HP:0001249;HP:0001250;HP:0001257;HP:0001263;HP:0001273;HP:0001324;HP:0003388;HP:0003394;HP:0004322;HP:0006970;HP:0011968
MONDO:0011773	anauxetic dysplasia	subtree_only	25									OMIM:607095;OMIM:617396;OMIM:618853	86	10	0	1	14	76	HP:0000252;HP:0000365;HP:0000518;HP:0000974;HP:0001363;HP:0001762;HP:0001903;HP:0002024;HP:0002213;HP:0002251;HP:0002664;HP:0002721;HP:0003025;HP:0034368
MONDO:0008736	peroxisome biogenesis disorder 2B	direct	14	OMIM:202370	18	1	0	0	13	17	HP:0000407;HP:0000556;HP:0000705;HP:0000787;HP:0000938;HP:0001251;HP:0001252;HP:0001263;HP:0001271;HP:0001410;HP:0002415;HP:0003159;HP:0008897	OMIM:202370	18	1	0	0	13	17	HP:0000407;HP:0000556;HP:0000705;HP:0000787;HP:0000938;HP:0001251;HP:0001252;HP:0001263;HP:0001271;HP:0001410;HP:0002415;HP:0003159;HP:0008897
MONDO:0009337	Hennekam lymphangiectasia-lymphedema syndrome 1	direct	26	OMIM:235510	64	12	0	1	13	52	HP:0000023;HP:0000252;HP:0000476;HP:0000750;HP:0000776;HP:0000821;HP:0001508;HP:0001541;HP:0002089;HP:0004313;HP:0011330;HP:0011800;HP:0012281	OMIM:235510	64	12	0	1	13	52	HP:0000023;HP:0000252;HP:0000476;HP:0000750;HP:0000776;HP:0000821;HP:0001508;HP:0001541;HP:0002089;HP:0004313;HP:0011330;HP:0011800;HP:0012281
MONDO:0013584	hereditary sensory neuropathy-deafness-dementia syndrome	direct	18	OMIM:614116	19	4	1	0	13	15	HP:0000083;HP:0000738;HP:0000751;HP:0000966;HP:0001272;HP:0002283;HP:0002495;HP:0002524;HP:0007328;HP:0010871;HP:0012332;HP:0032794;HP:0200042	OMIM:614116	19	4	1	0	13	15	HP:0000083;HP:0000738;HP:0000751;HP:0000966;HP:0001272;HP:0002283;HP:0002495;HP:0002524;HP:0007328;HP:0010871;HP:0012332;HP:0032794;HP:0200042
MONDO:0014061	Steel syndrome	direct	28	OMIM:615155	21	12	2	1	13	9	HP:0000028;HP:0000164;HP:0000175;HP:0000589;HP:0000767;HP:0001216;HP:0001838;HP:0002857;HP:0002999;HP:0003311;HP:0005819;HP:0008829;HP:0012725	OMIM:615155	21	12	2	1	13	9	HP:0000028;HP:0000164;HP:0000175;HP:0000589;HP:0000767;HP:0001216;HP:0001838;HP:0002857;HP:0002999;HP:0003311;HP:0005819;HP:0008829;HP:0012725
MONDO:0014609	cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	direct	53	OMIM:616368;ORPHA:444077	91	32	7	1	13	59	HP:0000050;HP:0000708;HP:0002079;HP:0002120;HP:0002591;HP:0006297;HP:0009804;HP:0011800;HP:0011834;HP:0025160;HP:0031938;HP:0100025;HP:6000184	OMIM:616368;ORPHA:444077	91	32	7	1	13	59	HP:0000050;HP:0000708;HP:0002079;HP:0002120;HP:0002591;HP:0006297;HP:0009804;HP:0011800;HP:0011834;HP:0025160;HP:0031938;HP:0100025;HP:6000184
MONDO:0060532	congenital heart defects and skeletal malformations syndrome	direct	32	OMIM:617602	47	15	0	4	13	32	HP:0000089;HP:0000252;HP:0000347;HP:0000365;HP:0001643;HP:0001770;HP:0001999;HP:0002108;HP:0002579;HP:0009125;HP:0031703;HP:0034349;HP:0034681	OMIM:617602	47	15	0	4	13	32	HP:0000089;HP:0000252;HP:0000347;HP:0000365;HP:0001643;HP:0001770;HP:0001999;HP:0002108;HP:0002579;HP:0009125;HP:0031703;HP:0034349;HP:0034681
MONDO:0060596	neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	direct	25	OMIM:617755	28	7	1	4	13	21	HP:0000307;HP:0000414;HP:0000426;HP:0000545;HP:0000577;HP:0001250;HP:0001508;HP:0001999;HP:0002353;HP:0002572;HP:0002650;HP:0002750;HP:0011968	OMIM:617755	28	7	1	4	13	21	HP:0000307;HP:0000414;HP:0000426;HP:0000545;HP:0000577;HP:0001250;HP:0001508;HP:0001999;HP:0002353;HP:0002572;HP:0002650;HP:0002750;HP:0011968
MONDO:0060621	neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy	direct	22	OMIM:617802	43	8	1	0	13	35	HP:0000648;HP:0000717;HP:0001347;HP:0001511;HP:0001627;HP:0001629;HP:0002071;HP:0002360;HP:0002509;HP:0002910;HP:0011968;HP:0012447;HP:0200134	OMIM:617802	43	8	1	0	13	35	HP:0000648;HP:0000717;HP:0001347;HP:0001511;HP:0001627;HP:0001629;HP:0002071;HP:0002360;HP:0002509;HP:0002910;HP:0011968;HP:0012447;HP:0200134
MONDO:0859198	short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies	direct	35	OMIM:619557	27	18	1	3	13	9	HP:0000252;HP:0000708;HP:0000805;HP:0001260;HP:0001288;HP:0001347;HP:0001508;HP:0001999;HP:0005085;HP:0008807;HP:0009183;HP:0009623;HP:0040183	OMIM:619557	27	18	1	3	13	9	HP:0000252;HP:0000708;HP:0000805;HP:0001260;HP:0001288;HP:0001347;HP:0001508;HP:0001999;HP:0005085;HP:0008807;HP:0009183;HP:0009623;HP:0040183
MONDO:0005147	type 1 diabetes mellitus	direct	16	OMIM:222100	8	3	1	0	12	5	HP:0000112;HP:0000488;HP:0001289;HP:0001297;HP:0001677;HP:0001824;HP:0002013;HP:0002027;HP:0002789;HP:0003076;HP:0009830;HP:0012378	OMIM:222100	8	3	1	0	12	5	HP:0000112;HP:0000488;HP:0001289;HP:0001297;HP:0001677;HP:0001824;HP:0002013;HP:0002027;HP:0002789;HP:0003076;HP:0009830;HP:0012378
MONDO:0008383	rheumatoid arthritis	direct	30	OMIM:180300	16	4	1	3	22	12	HP:0000939;HP:0001097;HP:0001288;HP:0001324;HP:0001371;HP:0001658;HP:0001701;HP:0001903;HP:0002102;HP:0002202;HP:0002716;HP:0003467;HP:0004943;HP:0006515;HP:0006530;HP:0009830;HP:0012181;HP:0030880;HP:0040311;HP:0100532;HP:0100534;HP:6000418	OMIM:134750;OMIM:180300;ORPHA:47612;ORPHA:85436	75	13	3	2	12	62	HP:0000939;HP:0001097;HP:0001288;HP:0001324;HP:0001371;HP:0001658;HP:0002202;HP:0003467;HP:0004943;HP:0006515;HP:0030880;HP:0100532
MONDO:0009664	mulibrey nanism	direct	21	OMIM:253250;ORPHA:2576	46	9	0	0	12	37	HP:0000027;HP:0000610;HP:0000815;HP:0000855;HP:0001397;HP:0001533;HP:0001712;HP:0001943;HP:0002563;HP:0005978;HP:0010734;HP:0031918	OMIM:253250;ORPHA:2576	46	9	0	0	12	37	HP:0000027;HP:0000610;HP:0000815;HP:0000855;HP:0001397;HP:0001533;HP:0001712;HP:0001943;HP:0002563;HP:0005978;HP:0010734;HP:0031918
MONDO:0010502	intellectual disability, X-linked 99, syndromic, female-restricted	direct	35	OMIM:300968	58	17	1	5	12	41	HP:0000316;HP:0000347;HP:0000490;HP:0000506;HP:0000581;HP:0000648;HP:0000718;HP:0000729;HP:0000739;HP:0001000;HP:0001270;HP:0001274	OMIM:300968	58	17	1	5	12	41	HP:0000316;HP:0000347;HP:0000490;HP:0000506;HP:0000581;HP:0000648;HP:0000718;HP:0000729;HP:0000739;HP:0001000;HP:0001270;HP:0001274
MONDO:0010790	MERRF syndrome	direct	23	OMIM:545000;ORPHA:551	18	7	4	0	12	11	HP:0000508;HP:0000580;HP:0000819;HP:0001272;HP:0001638;HP:0001716;HP:0002015;HP:0002076;HP:0002093;HP:0003236;HP:0003546;HP:0009830	OMIM:545000;ORPHA:551	18	7	4	0	12	11	HP:0000508;HP:0000580;HP:0000819;HP:0001272;HP:0001638;HP:0001716;HP:0002015;HP:0002076;HP:0002093;HP:0003236;HP:0003546;HP:0009830
MONDO:0011479	postural orthostatic tachycardia syndrome	direct	14	OMIM:604715	4	1	0	1	12	3	HP:0001063;HP:0001279;HP:0001337;HP:0001962;HP:0002018;HP:0002094;HP:0002315;HP:0002321;HP:0003546;HP:0012378;HP:0033630;HP:0100749	OMIM:604715	4	1	0	1	12	3	HP:0001063;HP:0001279;HP:0001337;HP:0001962;HP:0002018;HP:0002094;HP:0002315;HP:0002321;HP:0003546;HP:0012378;HP:0033630;HP:0100749
MONDO:0013950	peroxisome biogenesis disorder 11B	direct	14	OMIM:614885	11	1	1	0	12	10	HP:0000556;HP:0000705;HP:0000787;HP:0000846;HP:0000938;HP:0001250;HP:0001251;HP:0001257;HP:0001271;HP:0001410;HP:0002376;HP:0002415	OMIM:614885	11	1	1	0	12	10	HP:0000556;HP:0000705;HP:0000787;HP:0000846;HP:0000938;HP:0001250;HP:0001251;HP:0001257;HP:0001271;HP:0001410;HP:0002376;HP:0002415
MONDO:0014398	combined oxidative phosphorylation defect type 21	direct	18	OMIM:615918	16	5	0	1	12	11	HP:0000407;HP:0000708;HP:0000857;HP:0001251;HP:0001272;HP:0001332;HP:0001639;HP:0002376;HP:0002900;HP:0005484;HP:0008341;HP:0012751	OMIM:615918	16	5	0	1	12	11	HP:0000407;HP:0000708;HP:0000857;HP:0001251;HP:0001272;HP:0001332;HP:0001639;HP:0002376;HP:0002900;HP:0005484;HP:0008341;HP:0012751
MONDO:0030483	immunodeficiency 88	direct	15	OMIM:619630	5	3	0	0	12	2	HP:0001433;HP:0001945;HP:0002716;HP:0003212;HP:0008348;HP:0025829;HP:0040218;HP:0500271;HP:4000039;HP:5210093;HP:5210111;HP:5210115	OMIM:619630	5	3	0	0	12	2	HP:0001433;HP:0001945;HP:0002716;HP:0003212;HP:0008348;HP:0025829;HP:0040218;HP:0500271;HP:4000039;HP:5210093;HP:5210111;HP:5210115
MONDO:0030524	mucopolysaccharidosis, type 10	direct	20	OMIM:619698	27	7	1	0	12	20	HP:0000517;HP:0001216;HP:0001382;HP:0001633;HP:0002515;HP:0002684;HP:0002829;HP:0002866;HP:0005743;HP:0006297;HP:0010585;HP:0031367	OMIM:619698	27	7	1	0	12	20	HP:0000517;HP:0001216;HP:0001382;HP:0001633;HP:0002515;HP:0002684;HP:0002829;HP:0002866;HP:0005743;HP:0006297;HP:0010585;HP:0031367
MONDO:0032738	gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy	direct	28	OMIM:618419	49	12	1	3	12	37	HP:0000505;HP:0000786;HP:0000815;HP:0001249;HP:0001263;HP:0001627;HP:0002967;HP:0003198;HP:0010976;HP:0012864;HP:0031103;HP:0032218	OMIM:618419	49	12	1	3	12	37	HP:0000505;HP:0000786;HP:0000815;HP:0001249;HP:0001263;HP:0001627;HP:0002967;HP:0003198;HP:0010976;HP:0012864;HP:0031103;HP:0032218
MONDO:0100095	neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures	direct	23	OMIM:618170	29	9	2	0	12	20	HP:0000518;HP:0000657;HP:0000709;HP:0001257;HP:0001300;HP:0001332;HP:0001336;HP:0002270;HP:0002650;HP:0003477;HP:0007110;HP:0008064	OMIM:618170	29	9	2	0	12	20	HP:0000518;HP:0000657;HP:0000709;HP:0001257;HP:0001300;HP:0001332;HP:0001336;HP:0002270;HP:0002650;HP:0003477;HP:0007110;HP:0008064
MONDO:0100297	short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1	direct	32	OMIM:617877	40	17	1	2	12	23	HP:0000175;HP:0000316;HP:0000347;HP:0000403;HP:0000750;HP:0000818;HP:0001156;HP:0001647;HP:0002616;HP:0002650;HP:0002797;HP:0012443	OMIM:617877	40	17	1	2	12	23	HP:0000175;HP:0000316;HP:0000347;HP:0000403;HP:0000750;HP:0000818;HP:0001156;HP:0001647;HP:0002616;HP:0002650;HP:0002797;HP:0012443
MONDO:0100348	neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities	direct	23	OMIM:619091	28	6	4	1	12	22	HP:0000486;HP:0000708;HP:0001166;HP:0001251;HP:0001272;HP:0001508;HP:0002015;HP:0002059;HP:0002119;HP:0002344;HP:0003693;HP:0005328	OMIM:619091	28	6	4	1	12	22	HP:0000486;HP:0000708;HP:0001166;HP:0001251;HP:0001272;HP:0001508;HP:0002015;HP:0002059;HP:0002119;HP:0002344;HP:0003693;HP:0005328
MONDO:0000700	familial hemiplegic migraine	subtree_only	39									OMIM:141500;OMIM:602481;OMIM:609634	41	22	3	2	12	19	HP:0000360;HP:0000575;HP:0001268;HP:0002013;HP:0002354;HP:0002403;HP:0003401;HP:0010780;HP:0030783;HP:0030786;HP:0033748;HP:0034447
MONDO:0003924	adrenal cortex adenoma	subtree_only	18									ORPHA:231625	18	2	3	1	12	16	HP:0000846;HP:0000939;HP:0000978;HP:0001297;HP:0001635;HP:0001677;HP:0001712;HP:0002953;HP:0003077;HP:0005110;HP:0005978;HP:0012743
MONDO:0800373	carbon monoxide poisoning	subtree_only	14									ORPHA:306686	9	1	0	1	12	8	HP:0001250;HP:0001259;HP:0001279;HP:0001289;HP:0001300;HP:0001658;HP:0002017;HP:0002315;HP:0002321;HP:0002878;HP:0012378;HP:0100749
MONDO:0007267	hypertrophic cardiomyopathy 3	direct	14	OMIM:115196	3	2	1	0	11	1	HP:0001279;HP:0001635;HP:0001685;HP:0001712;HP:0001723;HP:0003115;HP:0003546;HP:0004756;HP:0025168;HP:0031333;HP:0032092	OMIM:115196	3	2	1	0	11	1	HP:0001279;HP:0001635;HP:0001685;HP:0001712;HP:0001723;HP:0003115;HP:0003546;HP:0004756;HP:0025168;HP:0031333;HP:0032092
MONDO:0008542	tetralogy of fallot	direct	11	OMIM:187500;ORPHA:3303	13	0	0	0	11	13	HP:0000961;HP:0001508;HP:0001629;HP:0001642;HP:0001667;HP:0001901;HP:0002623;HP:0002627;HP:0025503;HP:0030148;HP:0100759	OMIM:187500;ORPHA:3303	13	0	0	0	11	13	HP:0000961;HP:0001508;HP:0001629;HP:0001642;HP:0001667;HP:0001901;HP:0002623;HP:0002627;HP:0025503;HP:0030148;HP:0100759
MONDO:0009477	Stromme syndrome	direct	27	OMIM:243605	33	14	0	2	11	19	HP:0000343;HP:0000400;HP:0000448;HP:0000463;HP:0000505;HP:0000593;HP:0000969;HP:0001249;HP:0001270;HP:0001627;HP:0001873	OMIM:243605	33	14	0	2	11	19	HP:0000343;HP:0000400;HP:0000448;HP:0000463;HP:0000505;HP:0000593;HP:0000969;HP:0001249;HP:0001270;HP:0001627;HP:0001873
MONDO:0009749	giant axonal neuropathy 1	direct	27	OMIM:256850;ORPHA:643	51	10	1	5	11	41	HP:0000572;HP:0000826;HP:0001250;HP:0002073;HP:0002359;HP:0003121;HP:0004887;HP:0010871;HP:0011968;HP:0012332;HP:0030890	OMIM:256850;ORPHA:643	51	10	1	5	11	41	HP:0000572;HP:0000826;HP:0001250;HP:0002073;HP:0002359;HP:0003121;HP:0004887;HP:0010871;HP:0011968;HP:0012332;HP:0030890
MONDO:0009816	autosomal recessive osteopetrosis 2	direct	21	OMIM:259710	28	7	1	2	11	21	HP:0000256;HP:0000365;HP:0000980;HP:0001363;HP:0001508;HP:0001510;HP:0002205;HP:0002653;HP:0002719;HP:0002901;HP:0012758	OMIM:259710	28	7	1	2	11	21	HP:0000256;HP:0000365;HP:0000980;HP:0001363;HP:0001508;HP:0001510;HP:0002205;HP:0002653;HP:0002719;HP:0002901;HP:0012758
MONDO:0010397	severe neonatal-onset encephalopathy with microcephaly	direct	26	OMIM:300673;ORPHA:209370	33	9	3	3	11	24	HP:0000496;HP:0001290;HP:0001332;HP:0001657;HP:0001662;HP:0001699;HP:0002360;HP:0002540;HP:0003554;HP:0003763;HP:0011704	OMIM:300673;ORPHA:209370	33	9	3	3	11	24	HP:0000496;HP:0001290;HP:0001332;HP:0001657;HP:0001662;HP:0001699;HP:0002360;HP:0002540;HP:0003554;HP:0003763;HP:0011704
MONDO:0011365	blepharophimosis - intellectual disability syndrome, SBBYS type	direct	29	OMIM:603736;ORPHA:3047	58	11	3	4	11	47	HP:0000298;HP:0000508;HP:0000563;HP:0000609;HP:0000708;HP:0000750;HP:0001883;HP:0002566;HP:0002659;HP:0003065;HP:0100259	OMIM:603736;ORPHA:3047	58	11	3	4	11	47	HP:0000298;HP:0000508;HP:0000563;HP:0000609;HP:0000708;HP:0000750;HP:0001883;HP:0002566;HP:0002659;HP:0003065;HP:0100259
MONDO:0013536	heme oxygenase 1 deficiency	direct	36	OMIM:614034;ORPHA:562509	41	20	3	2	11	21	HP:0001698;HP:0001744;HP:0001917;HP:0002829;HP:0003124;HP:0003641;HP:0010783;HP:0011220;HP:0012156;HP:0012418;HP:0100540	OMIM:614034;ORPHA:562509	41	20	3	2	11	21	HP:0001698;HP:0001744;HP:0001917;HP:0002829;HP:0003124;HP:0003641;HP:0010783;HP:0011220;HP:0012156;HP:0012418;HP:0100540
MONDO:0013949	peroxisome biogenesis disorder 11A (Zellweger)	direct	20	OMIM:614883	21	7	1	1	11	14	HP:0000365;HP:0000505;HP:0000846;HP:0001257;HP:0001272;HP:0001290;HP:0001511;HP:0002376;HP:0002415;HP:0010655;HP:0011968	OMIM:614883	21	7	1	1	11	14	HP:0000365;HP:0000505;HP:0000846;HP:0001257;HP:0001272;HP:0001290;HP:0001511;HP:0002376;HP:0002415;HP:0010655;HP:0011968
MONDO:0014793	microcephaly-congenital cataract-psoriasiform dermatitis syndrome	direct	27	OMIM:616834	20	13	0	3	11	7	HP:0000486;HP:0000545;HP:0000609;HP:0000639;HP:0000958;HP:0001019;HP:0001257;HP:0001270;HP:0001596;HP:0004209;HP:0010442	OMIM:616834	20	13	0	3	11	7	HP:0000486;HP:0000545;HP:0000609;HP:0000639;HP:0000958;HP:0001019;HP:0001257;HP:0001270;HP:0001596;HP:0004209;HP:0010442
MONDO:0014823	hypotonia, infantile, with psychomotor retardation and characteristic facies 3	direct	40	OMIM:616900;ORPHA:488632	148	23	3	3	11	125	HP:0000010;HP:0000648;HP:0000787;HP:0001712;HP:0001733;HP:0001922;HP:0002015;HP:0002019;HP:0002380;HP:0002757;HP:0002791	OMIM:616900;ORPHA:488632	148	23	3	3	11	125	HP:0000010;HP:0000648;HP:0000787;HP:0001712;HP:0001733;HP:0001922;HP:0002015;HP:0002019;HP:0002380;HP:0002757;HP:0002791
MONDO:0032786	Noonan syndrome 11	direct	25	OMIM:618499	25	13	1	0	11	12	HP:0000337;HP:0000475;HP:0001249;HP:0001561;HP:0001712;HP:0001789;HP:0006521;HP:0010880;HP:0025676;HP:0032092;HP:0430046	OMIM:618499	25	13	1	0	11	12	HP:0000337;HP:0000475;HP:0001249;HP:0001561;HP:0001712;HP:0001789;HP:0006521;HP:0010880;HP:0025676;HP:0032092;HP:0430046
MONDO:0032805	hypopigmentation, organomegaly, and delayed myelination and development	direct	15	OMIM:618541	23	2	1	1	11	21	HP:0000105;HP:0000486;HP:0001107;HP:0001263;HP:0001508;HP:0001712;HP:0001922;HP:0002243;HP:0002750;HP:0004313;HP:0006892	OMIM:618541	23	2	1	1	11	21	HP:0000105;HP:0000486;HP:0001107;HP:0001263;HP:0001508;HP:0001712;HP:0001922;HP:0002243;HP:0002750;HP:0004313;HP:0006892
MONDO:0032855	neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies	direct	35	OMIM:618659	61	13	4	7	11	48	HP:0000252;HP:0000506;HP:0000545;HP:0000581;HP:0001385;HP:0001508;HP:0001627;HP:0001999;HP:0002251;HP:0002360;HP:0034392	OMIM:618659	61	13	4	7	11	48	HP:0000252;HP:0000506;HP:0000545;HP:0000581;HP:0001385;HP:0001508;HP:0001627;HP:0001999;HP:0002251;HP:0002360;HP:0034392
MONDO:0033642	neurodevelopmental disorder with alopecia and brain abnormalities	direct	26	OMIM:619075;ORPHA:544488	76	9	1	5	11	67	HP:0000405;HP:0000486;HP:0000539;HP:0001513;HP:0001548;HP:0001627;HP:0001999;HP:0002416;HP:0025104;HP:0030807;HP:0200040	OMIM:619075;ORPHA:544488	76	9	1	5	11	67	HP:0000405;HP:0000486;HP:0000539;HP:0001513;HP:0001548;HP:0001627;HP:0001999;HP:0002416;HP:0025104;HP:0030807;HP:0200040
MONDO:0042490	neutropenia, severe congenital, 1, autosomal dominant	direct	13	OMIM:202700	12	1	1	0	11	11	HP:0000155;HP:0000230;HP:0000704;HP:0001954;HP:0002090;HP:0002863;HP:0004808;HP:0031292;HP:0032435;HP:0033607;HP:0100806	OMIM:202700	12	1	1	0	11	11	HP:0000155;HP:0000230;HP:0000704;HP:0001954;HP:0002090;HP:0002863;HP:0004808;HP:0031292;HP:0032435;HP:0033607;HP:0100806
MONDO:0005976	syphilis	subtree_only	21									ORPHA:499009	46	8	1	1	11	38	HP:0000099;HP:0000726;HP:0001596;HP:0001659;HP:0002140;HP:0003249;HP:0010871;HP:0012115;HP:0012727;HP:0200042;HP:6000070
MONDO:0000208	microcephaly, short stature, and impaired glucose metabolism 1	direct	25	OMIM:616033	23	14	1	0	10	9	HP:0000089;HP:0000490;HP:0000601;HP:0000824;HP:0000855;HP:0001320;HP:0001508;HP:0002497;HP:0008209;HP:0030891	OMIM:616033	23	14	1	0	10	9	HP:0000089;HP:0000490;HP:0000601;HP:0000824;HP:0000855;HP:0001320;HP:0001508;HP:0002497;HP:0008209;HP:0030891
MONDO:0007733	holoprosencephaly 3	direct	30	OMIM:142945	23	9	6	1	14	14	HP:0000238;HP:0000568;HP:0000589;HP:0000830;HP:0001250;HP:0001252;HP:0001257;HP:0001332;HP:0008240;HP:0011734;HP:0011787;HP:0011968;HP:0012332;HP:0032466	OMIM:142945;OMIM:147250	41	15	4	1	10	26	HP:0000238;HP:0001250;HP:0001252;HP:0001257;HP:0001332;HP:0011734;HP:0011787;HP:0011968;HP:0012332;HP:0032466
MONDO:0007793	hypochondroplasia	direct	31	OMIM:146000;ORPHA:429	37	3	17	1	10	34	HP:0000238;HP:0001250;HP:0001328;HP:0002119;HP:0002677;HP:0002750;HP:0005619;HP:0012758;HP:0034222;HP:0034396	OMIM:146000;ORPHA:429	37	3	17	1	10	34	HP:0000238;HP:0001250;HP:0001328;HP:0002119;HP:0002677;HP:0002750;HP:0005619;HP:0012758;HP:0034222;HP:0034396
MONDO:0007878	congenital laryngomalacia	direct	10	ORPHA:2373	4	0	0	0	10	4	HP:0000961;HP:0001508;HP:0002020;HP:0002094;HP:0002205;HP:0002835;HP:0002870;HP:0005348;HP:0011968;HP:0030864	ORPHA:2373	4	0	0	0	10	4	HP:0000961;HP:0001508;HP:0002020;HP:0002094;HP:0002205;HP:0002835;HP:0002870;HP:0005348;HP:0011968;HP:0030864
MONDO:0007886	uterine corpus leiomyoma	direct	11	OMIM:150699	3	1	0	0	10	2	HP:0000132;HP:0000789;HP:0001622;HP:0001891;HP:0002019;HP:0030016;HP:0031501;HP:0034267;HP:0100515;HP:0100607	OMIM:150699	3	1	0	0	10	2	HP:0000132;HP:0000789;HP:0001622;HP:0001891;HP:0002019;HP:0030016;HP:0031501;HP:0034267;HP:0100515;HP:0100607
MONDO:0008476	spondyloepimetaphyseal dysplasia, Strudwick type	direct	17	OMIM:184250;ORPHA:93346	48	7	0	0	10	41	HP:0000541;HP:0001762;HP:0002663;HP:0002758;HP:0002808;HP:0003467;HP:0003521;HP:0009826;HP:0030043;HP:0100255	OMIM:184250;ORPHA:93346	48	7	0	0	10	41	HP:0000541;HP:0001762;HP:0002663;HP:0002758;HP:0002808;HP:0003467;HP:0003521;HP:0009826;HP:0030043;HP:0100255
MONDO:0009595	cartilage-hair hypoplasia	direct	32	OMIM:250250;ORPHA:175	111	14	5	1	12	97	HP:0002028;HP:0002099;HP:0002110;HP:0002960;HP:0003193;HP:0005387;HP:0005403;HP:0008669;HP:0010049;HP:0031413;HP:0032140;HP:0032170	OMIM:250250;OMIM:250460;ORPHA:175	123	16	5	1	10	107	HP:0002028;HP:0002099;HP:0002110;HP:0002960;HP:0003193;HP:0005403;HP:0008669;HP:0031413;HP:0032140;HP:0032170
MONDO:0009821	lethal osteosclerotic bone dysplasia	direct	25	OMIM:259775;ORPHA:1832	65	12	1	2	10	53	HP:0000505;HP:0000705;HP:0001249;HP:0001250;HP:0002643;HP:0002645;HP:0004912;HP:0009882;HP:0011324;HP:0030314	OMIM:259775;ORPHA:1832	65	12	1	2	10	53	HP:0000505;HP:0000705;HP:0001249;HP:0001250;HP:0002643;HP:0002645;HP:0004912;HP:0009882;HP:0011324;HP:0030314
MONDO:0009842	Pelger-Huet-like anomaly and episodic fever with abdominal pain	direct	18	OMIM:260570	11	8	0	0	10	3	HP:0000978;HP:0001058;HP:0001873;HP:0001903;HP:0001974;HP:0002754;HP:0002788;HP:0011227;HP:0025452;HP:0032252	OMIM:260570	11	8	0	0	10	3	HP:0000978;HP:0001058;HP:0001873;HP:0001903;HP:0001974;HP:0002754;HP:0002788;HP:0011227;HP:0025452;HP:0032252
MONDO:0011018	brachyolmia-amelogenesis imperfecta syndrome	direct	16	OMIM:601216	16	6	0	0	10	10	HP:0000121;HP:0000668;HP:0000679;HP:0000684;HP:0000689;HP:0000938;HP:0001631;HP:0001650;HP:0002673;HP:0012727	OMIM:601216	16	6	0	0	10	10	HP:0000121;HP:0000668;HP:0000679;HP:0000684;HP:0000689;HP:0000938;HP:0001631;HP:0001650;HP:0002673;HP:0012727
MONDO:0011053	intellectual disability-sparse hair-brachydactyly syndrome	direct	30	OMIM:601358;ORPHA:3051	107	16	3	1	10	91	HP:0000280;HP:0000405;HP:0000539;HP:0000668;HP:0000684;HP:0000729;HP:0000926;HP:0002376;HP:0003758;HP:0010780	OMIM:601358;ORPHA:3051	107	16	3	1	10	91	HP:0000280;HP:0000405;HP:0000539;HP:0000668;HP:0000684;HP:0000729;HP:0000926;HP:0002376;HP:0003758;HP:0010780
MONDO:0011257	MPI-congenital disorder of glycosylation	direct	30	OMIM:602579;ORPHA:79319	36	14	6	0	10	22	HP:0000105;HP:0001250;HP:0001397;HP:0001510;HP:0001744;HP:0001943;HP:0002040;HP:0002719;HP:0004315;HP:0006563	OMIM:602579;ORPHA:79319	36	14	6	0	10	22	HP:0000105;HP:0001250;HP:0001397;HP:0001510;HP:0001744;HP:0001943;HP:0002040;HP:0002719;HP:0004315;HP:0006563
MONDO:0011528	hyper-IgM syndrome type 2	direct	15	OMIM:605258	13	5	0	0	10	8	HP:0000388;HP:0001369;HP:0001890;HP:0001973;HP:0002110;HP:0002960;HP:0030812;HP:0034839;HP:0100280;HP:5210421	OMIM:605258	13	5	0	0	10	8	HP:0000388;HP:0001369;HP:0001890;HP:0001973;HP:0002110;HP:0002960;HP:0030812;HP:0034839;HP:0100280;HP:5210421
MONDO:0011972	ovarian hyperstimulation syndrome	direct	20	OMIM:608115;ORPHA:64739	19	6	4	0	10	13	HP:0001899;HP:0001907;HP:0001974;HP:0002094;HP:0002153;HP:0002878;HP:0002902;HP:0004324;HP:0031865;HP:0034267	OMIM:608115;ORPHA:64739	19	6	4	0	10	13	HP:0001899;HP:0001907;HP:0001974;HP:0002094;HP:0002153;HP:0002878;HP:0002902;HP:0004324;HP:0031865;HP:0034267
MONDO:0012211	MPDU1-congenital disorder of glycosylation	direct	18	OMIM:609180;ORPHA:79323	44	5	1	2	10	39	HP:0000407;HP:0000557;HP:0001638;HP:0001873;HP:0001999;HP:0002093;HP:0002104;HP:0004322;HP:0008007;HP:0012440	OMIM:609180;ORPHA:79323	44	5	1	2	10	39	HP:0000407;HP:0000557;HP:0001638;HP:0001873;HP:0001999;HP:0002093;HP:0002104;HP:0004322;HP:0008007;HP:0012440
MONDO:0013110	neurodegenerative syndrome due to cerebral folate transport deficiency	direct	13	OMIM:613068	5	2	1	0	10	3	HP:0000717;HP:0001251;HP:0001266;HP:0001272;HP:0002059;HP:0003429;HP:0005484;HP:0007018;HP:0100022;HP:0100543	OMIM:613068	5	2	1	0	10	3	HP:0000717;HP:0001251;HP:0001266;HP:0001272;HP:0002059;HP:0003429;HP:0005484;HP:0007018;HP:0100022;HP:0100543
MONDO:0013120	46,XY sex reversal 5	direct	13	OMIM:613080	7	2	1	0	10	5	HP:0000013;HP:0000048;HP:0000051;HP:0000054;HP:0000815;HP:0008668;HP:0008689;HP:0008730;HP:0034299;HP:0040171	OMIM:613080	7	2	1	0	10	5	HP:0000013;HP:0000048;HP:0000051;HP:0000054;HP:0000815;HP:0008668;HP:0008689;HP:0008730;HP:0034299;HP:0040171
MONDO:0013547	mitochondrial complex V (ATP synthase) deficiency, nuclear type 3	direct	14	OMIM:614053	7	4	0	0	10	3	HP:0000365;HP:0000505;HP:0001250;HP:0001251;HP:0001263;HP:0001332;HP:0002013;HP:0002098;HP:0003546;HP:0004372	OMIM:614053	7	4	0	0	10	3	HP:0000365;HP:0000505;HP:0001250;HP:0001251;HP:0001263;HP:0001332;HP:0002013;HP:0002098;HP:0003546;HP:0004372
MONDO:0013797	chromosome 17q12 deletion syndrome	direct	21	OMIM:614527;ORPHA:261265	69	7	3	1	10	62	HP:0000256;HP:0000843;HP:0001392;HP:0001627;HP:0001738;HP:0002149;HP:0002900;HP:0002917;HP:0007018;HP:0007302	OMIM:614527;ORPHA:261265	69	7	3	1	10	62	HP:0000256;HP:0000843;HP:0001392;HP:0001627;HP:0001738;HP:0002149;HP:0002900;HP:0002917;HP:0007018;HP:0007302
MONDO:0014023	congenital muscular dystrophy with intellectual disability and severe epilepsy	direct	32	OMIM:615042;ORPHA:329178	53	13	3	6	10	40	HP:0001249;HP:0001270;HP:0001276;HP:0001647;HP:0001650;HP:0001771;HP:0003202;HP:0003546;HP:0003560;HP:0009830	OMIM:615042;ORPHA:329178	53	13	3	6	10	40	HP:0001249;HP:0001270;HP:0001276;HP:0001647;HP:0001650;HP:0001771;HP:0003202;HP:0003546;HP:0003560;HP:0009830
MONDO:0014186	retinitis pigmentosa with or without situs inversus	direct	13	OMIM:615434	15	2	0	1	10	13	HP:0000028;HP:0000107;HP:0000122;HP:0000458;HP:0000512;HP:0000613;HP:0000662;HP:0000798;HP:0001133;HP:0007737	OMIM:615434	15	2	0	1	10	13	HP:0000028;HP:0000107;HP:0000122;HP:0000458;HP:0000512;HP:0000613;HP:0000662;HP:0000798;HP:0001133;HP:0007737
MONDO:0014254	otofaciocervical syndrome 2	direct	15	OMIM:615560	22	3	0	2	10	19	HP:0000750;HP:0000829;HP:0001627;HP:0001999;HP:0002719;HP:0003468;HP:0004322;HP:0004430;HP:0005359;HP:0009794	OMIM:615560	22	3	0	2	10	19	HP:0000750;HP:0000829;HP:0001627;HP:0001999;HP:0002719;HP:0003468;HP:0004322;HP:0004430;HP:0005359;HP:0009794
MONDO:0014354	intellectual disability, autosomal recessive 43	direct	16	OMIM:615817	22	5	0	1	10	17	HP:0000256;HP:0000407;HP:0001260;HP:0001310;HP:0001999;HP:0002075;HP:0003198;HP:0032388;HP:0100022;HP:3000062	OMIM:615817	22	5	0	1	10	17	HP:0000256;HP:0000407;HP:0001260;HP:0001310;HP:0001999;HP:0002075;HP:0003198;HP:0032388;HP:0100022;HP:3000062
MONDO:0014704	skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome	direct	15	OMIM:616592	26	5	0	0	10	21	HP:0000256;HP:0000280;HP:0000687;HP:0001371;HP:0002500;HP:0002652;HP:0004944;HP:0009125;HP:0012385;HP:0100702	OMIM:616592	26	5	0	0	10	21	HP:0000256;HP:0000280;HP:0000687;HP:0001371;HP:0002500;HP:0002652;HP:0004944;HP:0009125;HP:0012385;HP:0100702
MONDO:0014727	immunodeficiency 45	direct	10	OMIM:616669	2	0	0	0	10	2	HP:0000737;HP:0001254;HP:0001876;HP:0001945;HP:0002383;HP:0012156;HP:0025289;HP:0031691;HP:0031697;HP:0040186	OMIM:616669	2	0	0	0	10	2	HP:0000737;HP:0001254;HP:0001876;HP:0001945;HP:0002383;HP:0012156;HP:0025289;HP:0031691;HP:0031697;HP:0040186
MONDO:0014748	progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome	direct	41	OMIM:616723;ORPHA:457395	82	27	2	2	10	55	HP:0000218;HP:0000337;HP:0000545;HP:0001263;HP:0001373;HP:0001999;HP:0002069;HP:0003021;HP:0011800;HP:0034271	OMIM:616723;ORPHA:457395	82	27	2	2	10	55	HP:0000218;HP:0000337;HP:0000545;HP:0001263;HP:0001373;HP:0001999;HP:0002069;HP:0003021;HP:0011800;HP:0034271
MONDO:0014868	developmental and epileptic encephalopathy, 38	direct	21	OMIM:617020	20	7	0	4	10	13	HP:0000639;HP:0001257;HP:0001272;HP:0001644;HP:0002059;HP:0003429;HP:0006254;HP:0020174;HP:0032786;HP:0100704	OMIM:617020	20	7	0	4	10	13	HP:0000639;HP:0001257;HP:0001272;HP:0001644;HP:0002059;HP:0003429;HP:0006254;HP:0020174;HP:0032786;HP:0100704
MONDO:0014886	severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome	direct	21	OMIM:617051;ORPHA:488627	47	8	0	3	10	39	HP:0000556;HP:0001270;HP:0001321;HP:0001627;HP:0002352;HP:0002650;HP:0004322;HP:0007832;HP:0011369;HP:0012583	OMIM:617051;ORPHA:488627	47	8	0	3	10	39	HP:0000556;HP:0001270;HP:0001321;HP:0001627;HP:0002352;HP:0002650;HP:0004322;HP:0007832;HP:0011369;HP:0012583
MONDO:0015196	vein of Galen aneurysm	direct	11	ORPHA:1053	3	0	1	0	10	3	HP:0000238;HP:0000256;HP:0001043;HP:0001250;HP:0001263;HP:0001635;HP:0001640;HP:0001789;HP:0002092;HP:0005180	ORPHA:1053	3	0	1	0	10	3	HP:0000238;HP:0000256;HP:0001043;HP:0001250;HP:0001263;HP:0001635;HP:0001640;HP:0001789;HP:0002092;HP:0005180
MONDO:0026722	Mullegama-Klein-Martinez syndrome	direct	26	OMIM:301022	50	9	0	7	10	41	HP:0000218;HP:0001249;HP:0001250;HP:0001511;HP:0001643;HP:0001719;HP:0002079;HP:0002126;HP:0002558;HP:0011755	OMIM:301022	50	9	0	7	10	41	HP:0000218;HP:0001249;HP:0001250;HP:0001511;HP:0001643;HP:0001719;HP:0002079;HP:0002126;HP:0002558;HP:0011755
MONDO:0030813	immunodeficiency 101 (varicella zoster virus-specific)	direct	11	OMIM:619872	3	1	0	0	10	2	HP:0000651;HP:0001269;HP:0002090;HP:0002140;HP:0002315;HP:0002321;HP:0002383;HP:0003401;HP:0012229;HP:0012486	OMIM:619872	3	1	0	0	10	2	HP:0000651;HP:0001269;HP:0002090;HP:0002140;HP:0002315;HP:0002321;HP:0002383;HP:0003401;HP:0012229;HP:0012486
MONDO:0032900	neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements	direct	23	OMIM:618760	17	10	2	1	10	7	HP:0000252;HP:0000486;HP:0000639;HP:0001336;HP:0001344;HP:0002360;HP:0002487;HP:0002650;HP:0012469;HP:0032588	OMIM:618760	17	10	2	1	10	7	HP:0000252;HP:0000486;HP:0000639;HP:0001336;HP:0001344;HP:0002360;HP:0002487;HP:0002650;HP:0012469;HP:0032588
MONDO:0033631	combined oxidative phosphorylation deficiency 51	direct	16	OMIM:619057	19	3	1	2	10	16	HP:0001257;HP:0001263;HP:0001332;HP:0001337;HP:0001347;HP:0002069;HP:0002078;HP:0002650;HP:0003128;HP:0003477	OMIM:619057	19	3	1	2	10	16	HP:0001257;HP:0001263;HP:0001332;HP:0001337;HP:0001347;HP:0002069;HP:0002078;HP:0002650;HP:0003128;HP:0003477
MONDO:0100156	Imerslund-Grasbeck syndrome type 1	direct	14	OMIM:261100	12	3	0	1	10	9	HP:0001251;HP:0001254;HP:0001508;HP:0001876;HP:0002160;HP:0002719;HP:0011830;HP:0012120;HP:0012592;HP:0100561	OMIM:261100	12	3	0	1	10	9	HP:0001251;HP:0001254;HP:0001508;HP:0001876;HP:0002160;HP:0002719;HP:0011830;HP:0012120;HP:0012592;HP:0100561
MONDO:0100221	IFAP syndrome 2	direct	14	OMIM:619016	13	4	0	0	10	9	HP:0000501;HP:0000639;HP:0002020;HP:0002043;HP:0003765;HP:0007502;HP:0007663;HP:0007957;HP:0011496;HP:0034418	OMIM:619016	13	4	0	0	10	9	HP:0000501;HP:0000639;HP:0002020;HP:0002043;HP:0003765;HP:0007502;HP:0007663;HP:0007957;HP:0011496;HP:0034418
MONDO:0859206	neurodevelopmental disorder with hearing loss and spasticity	direct	21	OMIM:619616	29	9	0	2	10	20	HP:0000154;HP:0000286;HP:0000577;HP:0000750;HP:0001999;HP:0002059;HP:0002353;HP:0008619;HP:0012448;HP:0034295	OMIM:619616	29	9	0	2	10	20	HP:0000154;HP:0000286;HP:0000577;HP:0000750;HP:0001999;HP:0002059;HP:0002353;HP:0008619;HP:0012448;HP:0034295
MONDO:0958322	intellectual developmental disorder, X-linked, syndromic 37	direct	34	OMIM:301118	201	15	0	9	10	186	HP:0000602;HP:0000939;HP:0000953;HP:0000957;HP:0000995;HP:0001320;HP:0002148;HP:0003165;HP:0010812;HP:0012430	OMIM:301118	201	15	0	9	10	186	HP:0000602;HP:0000939;HP:0000953;HP:0000957;HP:0000995;HP:0001320;HP:0002148;HP:0003165;HP:0010812;HP:0012430
MONDO:0958323	neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities	direct	27	OMIM:620747	32	13	3	1	10	19	HP:0000577;HP:0000718;HP:0000722;HP:0000726;HP:0000750;HP:0000767;HP:0007141;HP:0011098;HP:0025187;HP:0025268	OMIM:620747	32	13	3	1	10	19	HP:0000577;HP:0000718;HP:0000722;HP:0000726;HP:0000750;HP:0000767;HP:0007141;HP:0011098;HP:0025187;HP:0025268
MONDO:0004967	acute lymphoblastic leukemia	subtree_only	10									OMIM:151400;OMIM:247640	7	0	0	0	10	7	HP:0001433;HP:0001873;HP:0001882;HP:0001892;HP:0001903;HP:0002011;HP:0002716;HP:0002719;HP:0012378;HP:0033827
MONDO:0005711	congenital diaphragmatic hernia	direct	21	ORPHA:2140	8	3	5	0	13	5	HP:0000407;HP:0000767;HP:0000961;HP:0001508;HP:0001561;HP:0001708;HP:0002020;HP:0002092;HP:0002650;HP:0002878;HP:0006528;HP:0012758;HP:0025063	OMIM:142340;OMIM:222400;OMIM:306950;OMIM:610187;OMIM:620025;ORPHA:2140	57	7	5	0	9	50	HP:0000407;HP:0000767;HP:0000961;HP:0001508;HP:0001708;HP:0002020;HP:0006528;HP:0012758;HP:0025063
MONDO:0007104	amyotrophic lateral sclerosis-parkinsonism-dementia complex	direct	12	OMIM:105500	12	3	0	0	9	9	HP:0000298;HP:0000496;HP:0001260;HP:0001288;HP:0001347;HP:0002015;HP:0002063;HP:0002067;HP:0003693	OMIM:105500	12	3	0	0	9	9	HP:0000298;HP:0000496;HP:0001260;HP:0001288;HP:0001347;HP:0002015;HP:0002063;HP:0002067;HP:0003693
MONDO:0007322	chondrodysplasia punctata, tibial-metacarpal type	direct	13	OMIM:118651	14	3	1	0	9	11	HP:0000405;HP:0000926;HP:0001371;HP:0001385;HP:0003416;HP:0004322;HP:0005001;HP:0005280;HP:0006488	OMIM:118651	14	3	1	0	9	11	HP:0000405;HP:0000926;HP:0001371;HP:0001385;HP:0003416;HP:0004322;HP:0005001;HP:0005280;HP:0006488
MONDO:0007699	Hashimoto thyroiditis	direct	9	OMIM:140300	3	0	0	0	9	3	HP:0000716;HP:0000821;HP:0000836;HP:0000853;HP:0000958;HP:0002019;HP:0004324;HP:0012378;HP:6000855	OMIM:140300	3	0	0	0	9	3	HP:0000716;HP:0000821;HP:0000836;HP:0000853;HP:0000958;HP:0002019;HP:0004324;HP:0012378;HP:6000855
MONDO:0008585	HELLP syndrome	direct	22	ORPHA:244242	32	10	2	1	9	22	HP:0000822;HP:0001250;HP:0001511;HP:0001541;HP:0001622;HP:0001981;HP:0002904;HP:0020181;HP:6000998	ORPHA:244242	32	10	2	1	9	22	HP:0000822;HP:0001250;HP:0001511;HP:0001541;HP:0001622;HP:0001981;HP:0002904;HP:0020181;HP:6000998
MONDO:0008601	triglyceride storage disease, type 1	direct	9	OMIM:190420	2	0	0	0	9	2	HP:0000407;HP:0000518;HP:0000656;HP:0001397;HP:0001399;HP:0001744;HP:0002240;HP:0003198;HP:0007479	OMIM:190420	2	0	0	0	9	2	HP:0000407;HP:0000518;HP:0000656;HP:0001397;HP:0001399;HP:0001744;HP:0002240;HP:0003198;HP:0007479
MONDO:0008872	microcephalic osteodysplastic primordial dwarfism type II	direct	22	OMIM:210720;ORPHA:2637	87	10	1	2	9	77	HP:0000028;HP:0000822;HP:0000855;HP:0001384;HP:0001894;HP:0002652;HP:0003124;HP:0003510;HP:0012622	OMIM:210720;ORPHA:2637	87	10	1	2	9	77	HP:0000028;HP:0000822;HP:0000855;HP:0001384;HP:0001894;HP:0002652;HP:0003124;HP:0003510;HP:0012622
MONDO:0009440	ichthyosiform erythroderma, corneal involvement, and hearing loss	direct	20	OMIM:242150	27	10	0	1	9	17	HP:0000491;HP:0000559;HP:0001738;HP:0001873;HP:0001875;HP:0001903;HP:0002719;HP:0033725;HP:0100806	OMIM:242150	27	10	0	1	9	17	HP:0000491;HP:0000559;HP:0001738;HP:0001873;HP:0001875;HP:0001903;HP:0002719;HP:0033725;HP:0100806
MONDO:0010092	Filippi syndrome	direct	23	OMIM:272440;ORPHA:3255	60	9	1	4	9	51	HP:0000089;HP:0000107;HP:0000347;HP:0000750;HP:0001034;HP:0001762;HP:0001999;HP:0009719;HP:0011035	OMIM:272440;ORPHA:3255	60	9	1	4	9	51	HP:0000089;HP:0000107;HP:0000347;HP:0000750;HP:0001034;HP:0001762;HP:0001999;HP:0009719;HP:0011035
MONDO:0010200	Wilson disease	direct	72	OMIM:277900;ORPHA:905	106	59	3	1	9	47	HP:0000338;HP:0000938;HP:0001251;HP:0001635;HP:0001638;HP:0003201;HP:0007302;HP:0011675;HP:0012332	OMIM:277900;ORPHA:905	106	59	3	1	9	47	HP:0000338;HP:0000938;HP:0001251;HP:0001635;HP:0001638;HP:0003201;HP:0007302;HP:0011675;HP:0012332
MONDO:0010537	Borjeson-Forssman-Lehmann syndrome	direct	26	OMIM:301900;ORPHA:127	53	17	0	0	9	36	HP:0000164;HP:0000479;HP:0000750;HP:0000953;HP:0001263;HP:0001537;HP:0001883;HP:0002538;HP:0010562	OMIM:301900;ORPHA:127	53	17	0	0	9	36	HP:0000164;HP:0000479;HP:0000750;HP:0000953;HP:0001263;HP:0001537;HP:0001883;HP:0002538;HP:0010562
MONDO:0010604	hemophilia B	direct	18	OMIM:306900;ORPHA:98879	25	8	0	1	9	17	HP:0000100;HP:0000132;HP:0002829;HP:0004349;HP:0011891;HP:0030140;HP:0040242;HP:0410149;HP:6000495	OMIM:306900;ORPHA:98879	25	8	0	1	9	17	HP:0000100;HP:0000132;HP:0002829;HP:0004349;HP:0011891;HP:0030140;HP:0040242;HP:0410149;HP:6000495
MONDO:0010706	premature ovarian failure 1	direct	11	OMIM:311360	5	1	1	0	9	4	HP:0000815;HP:0000823;HP:0000869;HP:0000876;HP:0000939;HP:0004349;HP:0008222;HP:0031101;HP:0031217	OMIM:311360	5	1	1	0	9	4	HP:0000815;HP:0000823;HP:0000869;HP:0000876;HP:0000939;HP:0004349;HP:0008222;HP:0031101;HP:0031217
MONDO:0010772	Leber optic atrophy and dystonia	direct	15	OMIM:500001	19	4	2	0	9	15	HP:0000508;HP:0000603;HP:0001251;HP:0001288;HP:0001371;HP:0004322;HP:0007146;HP:0007641;HP:0012128	OMIM:500001	19	4	2	0	9	15	HP:0000508;HP:0000603;HP:0001251;HP:0001288;HP:0001371;HP:0004322;HP:0007146;HP:0007641;HP:0012128
MONDO:0011258	branchiootic syndrome 1	direct	16	OMIM:602588	14	5	0	2	9	9	HP:0000074;HP:0000076;HP:0000089;HP:0000104;HP:0000384;HP:0000402;HP:0003774;HP:0004452;HP:0011380	OMIM:602588	14	5	0	2	9	9	HP:0000074;HP:0000076;HP:0000089;HP:0000104;HP:0000384;HP:0000402;HP:0003774;HP:0004452;HP:0011380
MONDO:0011639	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis	direct	17	OMIM:606164	23	6	1	1	9	17	HP:0000316;HP:0000369;HP:0000470;HP:0000577;HP:0001789;HP:0001875;HP:0002664;HP:0002781;HP:0005321	OMIM:606164	23	6	1	1	9	17	HP:0000316;HP:0000369;HP:0000470;HP:0000577;HP:0001789;HP:0001875;HP:0002664;HP:0002781;HP:0005321
MONDO:0011772	B4GALT1-congenital disorder of glycosylation	direct	18	OMIM:607091;ORPHA:79332	43	7	1	1	9	36	HP:0000100;HP:0001249;HP:0001250;HP:0001266;HP:0001332;HP:0001396;HP:0001876;HP:0002066;HP:0002092	OMIM:607091;ORPHA:79332	43	7	1	1	9	36	HP:0000100;HP:0001249;HP:0001250;HP:0001266;HP:0001332;HP:0001396;HP:0001876;HP:0002066;HP:0002092
MONDO:0012362	dilated cardiomyopathy 1P	direct	14	OMIM:609909	6	3	2	0	9	3	HP:0001279;HP:0001645;HP:0001685;HP:0002875;HP:0003546;HP:0004756;HP:0010872;HP:0025077;HP:0025169	OMIM:609909	6	3	2	0	9	3	HP:0001279;HP:0001645;HP:0001685;HP:0002875;HP:0003546;HP:0004756;HP:0010872;HP:0025077;HP:0025169
MONDO:0012563	holoprosencephaly 9	direct	25	OMIM:610829	60	10	2	4	9	50	HP:0000044;HP:0000873;HP:0001396;HP:0001671;HP:0001998;HP:0009794;HP:0010754;HP:0011734;HP:0011787	OMIM:610829	60	10	2	4	9	50	HP:0000044;HP:0000873;HP:0001396;HP:0001671;HP:0001998;HP:0009794;HP:0010754;HP:0011734;HP:0011787
MONDO:0012892	bone fragility with contractures, arterial rupture, and deafness	direct	18	OMIM:612394	41	4	1	4	9	37	HP:0000076;HP:0000541;HP:0001627;HP:0002126;HP:0002242;HP:0002282;HP:0005294;HP:0007359;HP:0008066	OMIM:612394	41	4	1	4	9	37	HP:0000076;HP:0000541;HP:0001627;HP:0002126;HP:0002242;HP:0002282;HP:0005294;HP:0007359;HP:0008066
MONDO:0013021	sterile multifocal osteomyelitis with periostitis and pustulosis	direct	15	OMIM:612852	27	4	1	1	9	23	HP:0001510;HP:0001597;HP:0001954;HP:0001974;HP:0001977;HP:0002090;HP:0002756;HP:0004840;HP:0034392	OMIM:612852	27	4	1	1	9	23	HP:0001510;HP:0001597;HP:0001954;HP:0001974;HP:0001977;HP:0002090;HP:0002756;HP:0004840;HP:0034392
MONDO:0013050	lethal polymalformative syndrome, Boissel type	direct	29	OMIM:612938	35	12	0	8	9	23	HP:0000212;HP:0000504;HP:0000992;HP:0001252;HP:0001363;HP:0001684;HP:0001712;HP:0004890;HP:0100759	OMIM:612938	35	12	0	8	9	23	HP:0000212;HP:0000504;HP:0000992;HP:0001252;HP:0001363;HP:0001684;HP:0001712;HP:0004890;HP:0100759
MONDO:0013659	microcephaly-capillary malformation syndrome	direct	29	OMIM:614261	42	17	1	2	9	25	HP:0000618;HP:0000729;HP:0000851;HP:0001999;HP:0002232;HP:0002521;HP:0006532;HP:0011968;HP:0100660	OMIM:614261	42	17	1	2	9	25	HP:0000618;HP:0000729;HP:0000851;HP:0001999;HP:0002232;HP:0002521;HP:0006532;HP:0011968;HP:0100660
MONDO:0013897	Loeys-Dietz syndrome 4	direct	27	OMIM:614816	46	17	0	1	9	29	HP:0000175;HP:0000964;HP:0001252;HP:0002037;HP:0002099;HP:0002758;HP:0005263;HP:0012393;HP:0100718	OMIM:614816	46	17	0	1	9	29	HP:0000175;HP:0000964;HP:0001252;HP:0002037;HP:0002099;HP:0002758;HP:0005263;HP:0012393;HP:0100718
MONDO:0014486	intellectual disability, autosomal dominant 30	direct	15	OMIM:616083	18	4	0	2	9	14	HP:0000028;HP:0000252;HP:0000407;HP:0000486;HP:0000729;HP:0001999;HP:0002719;HP:0004322;HP:0011968	OMIM:616083	18	4	0	2	9	14	HP:0000028;HP:0000252;HP:0000407;HP:0000486;HP:0000729;HP:0001999;HP:0002719;HP:0004322;HP:0011968
MONDO:0014491	immunodeficiency 37	direct	16	OMIM:616098	10	2	4	1	9	8	HP:0000964;HP:0001508;HP:0002028;HP:0002352;HP:0020086;HP:0020102;HP:0020113;HP:0030374;HP:0031402	OMIM:616098	10	2	4	1	9	8	HP:0000964;HP:0001508;HP:0002028;HP:0002352;HP:0020086;HP:0020102;HP:0020113;HP:0030374;HP:0031402
MONDO:0014760	TFRC-related combined immunodeficiency	direct	18	OMIM:616740	13	8	0	1	9	5	HP:0000421;HP:0000648;HP:0000967;HP:0001045;HP:0001263;HP:0002110;HP:0003496;HP:0005987;HP:0011840	OMIM:616740	13	8	0	1	9	5	HP:0000421;HP:0000648;HP:0000967;HP:0001045;HP:0001263;HP:0002110;HP:0003496;HP:0005987;HP:0011840
MONDO:0014880	Duane retraction syndrome 3 with or without deafness	direct	12	OMIM:617041	6	1	1	1	9	5	HP:0000097;HP:0000356;HP:0000646;HP:0001263;HP:0003774;HP:0008554;HP:0011348;HP:0012593;HP:0031705	OMIM:617041	6	1	1	1	9	5	HP:0000097;HP:0000356;HP:0000646;HP:0001263;HP:0003774;HP:0008554;HP:0011348;HP:0012593;HP:0031705
MONDO:0018129	autosomal recessive cerebellar ataxia with late-onset spasticity	direct	15	ORPHA:352641	24	2	1	3	9	22	HP:0000012;HP:0000135;HP:0000511;HP:0000518;HP:0001272;HP:0001332;HP:0002500;HP:0007371;HP:0100543	ORPHA:352641	24	2	1	3	9	22	HP:0000012;HP:0000135;HP:0000511;HP:0000518;HP:0001272;HP:0001332;HP:0002500;HP:0007371;HP:0100543
MONDO:0019365	scrub typhus	direct	25	ORPHA:83317	27	11	5	0	9	16	HP:0000952;HP:0001649;HP:0001873;HP:0002014;HP:0002240;HP:0002910;HP:0031273;HP:0033677;HP:6000793	ORPHA:83317	27	11	5	0	9	16	HP:0000952;HP:0001649;HP:0001873;HP:0002014;HP:0002240;HP:0002910;HP:0031273;HP:0033677;HP:6000793
MONDO:0019618	Sheehan syndrome	direct	20	ORPHA:91355	49	6	2	3	9	43	HP:0000044;HP:0000819;HP:0000855;HP:0000939;HP:0001397;HP:0002221;HP:0003119;HP:0031109;HP:6000855	ORPHA:91355	49	6	2	3	9	43	HP:0000044;HP:0000819;HP:0000855;HP:0000939;HP:0001397;HP:0002221;HP:0003119;HP:0031109;HP:6000855
MONDO:0030693	immunodeficiency 96	direct	18	OMIM:619774	18	7	1	1	9	11	HP:0000992;HP:0001875;HP:0001888;HP:0001972;HP:0002110;HP:0002665;HP:0005403;HP:0010976;HP:0011133	OMIM:619774	18	7	1	1	9	11	HP:0000992;HP:0001875;HP:0001888;HP:0001972;HP:0002110;HP:0002665;HP:0005403;HP:0010976;HP:0011133
MONDO:0032599	immunodeficiency 15a	direct	13	OMIM:618204	11	4	0	0	9	7	HP:0000964;HP:0000968;HP:0001888;HP:0001890;HP:0002110;HP:0004313;HP:0005387;HP:0031397;HP:0032140	OMIM:618204	11	4	0	0	9	7	HP:0000964;HP:0000968;HP:0001888;HP:0001890;HP:0002110;HP:0004313;HP:0005387;HP:0031397;HP:0032140
MONDO:0032893	pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures	direct	19	OMIM:618737	25	7	0	3	9	18	HP:0001250;HP:0001263;HP:0001272;HP:0001290;HP:0001999;HP:0002126;HP:0002365;HP:0002376;HP:0007074	OMIM:618737	25	7	0	3	9	18	HP:0001250;HP:0001263;HP:0001272;HP:0001290;HP:0001999;HP:0002126;HP:0002365;HP:0002376;HP:0007074
MONDO:0033559	intellectual developmental disorder with seizures and language delay	direct	21	OMIM:619000	20	5	1	6	9	15	HP:0000365;HP:0000478;HP:0000718;HP:0000752;HP:0001257;HP:0001270;HP:0002360;HP:0002376;HP:0011968	OMIM:619000	20	5	1	6	9	15	HP:0000365;HP:0000478;HP:0000718;HP:0000752;HP:0001257;HP:0001270;HP:0002360;HP:0002376;HP:0011968
MONDO:0033641	cleft palate, proliferative retinopathy, and developmental delay	direct	16	OMIM:619074	21	5	0	2	9	16	HP:0000252;HP:0000325;HP:0000358;HP:0000426;HP:0001508;HP:0001999;HP:0007773;HP:0009922;HP:0011958	OMIM:619074	21	5	0	2	9	16	HP:0000252;HP:0000325;HP:0000358;HP:0000426;HP:0001508;HP:0001999;HP:0007773;HP:0009922;HP:0011958
MONDO:0002378	dermoid cyst	subtree_only	11									OMIM:166950	2	1	1	0	9	1	HP:0001140;HP:0001250;HP:0001287;HP:0002315;HP:0012097;HP:0030731;HP:0031500;HP:0034267;HP:0430145
MONDO:0005207	choriocarcinoma	subtree_only	12									ORPHA:99926;ORPHA:99928	8	0	3	0	9	8	HP:0000138;HP:0000836;HP:0002094;HP:0002105;HP:0002170;HP:0002315;HP:0011854;HP:0034263;HP:0100749
MONDO:0006325	ocular melanoma	subtree_only	10									OMIM:155720	2	1	0	0	9	1	HP:0000501;HP:0000502;HP:0000541;HP:0001123;HP:0002896;HP:0007663;HP:0030786;HP:0100832;HP:0200026
MONDO:0014629	autoimmune interstitial lung disease-arthritis syndrome	subtree_only	22									OMIM:616414;OMIM:621409	45	4	6	3	9	41	HP:0000951;HP:0002923;HP:0025179;HP:0025831;HP:0032230;HP:0032445;HP:0033608;HP:0100721;HP:0100769
MONDO:0035838	idiopathic multicentric Castleman disease	subtree_only	22									ORPHA:457077	19	9	3	1	9	10	HP:0000093;HP:0001824;HP:0001894;HP:0002039;HP:0003073;HP:0003565;HP:0012378;HP:0030166;HP:0032288
MONDO:0004948	B-cell chronic lymphocytic leukemia	direct	8	OMIM:151400	3	0	0	0	8	3	HP:0001744;HP:0001824;HP:0001873;HP:0001903;HP:0002716;HP:0002719;HP:0005523;HP:0030166	OMIM:151400	3	0	0	0	8	3	HP:0001744;HP:0001824;HP:0001873;HP:0001903;HP:0002716;HP:0002719;HP:0005523;HP:0030166
MONDO:0005148	type 2 diabetes mellitus	direct	10	OMIM:125853	5	1	0	1	8	4	HP:0000103;HP:0000488;HP:0000842;HP:0001513;HP:0001959;HP:0003074;HP:0009830;HP:0012378	OMIM:125853	5	1	0	1	8	4	HP:0000103;HP:0000488;HP:0000842;HP:0001513;HP:0001959;HP:0003074;HP:0009830;HP:0012378
MONDO:0007037	achondroplasia	direct	43	OMIM:100800;ORPHA:15	73	32	3	0	8	41	HP:0000750;HP:0002318;HP:0002650;HP:0003083;HP:0009763;HP:0011220;HP:0031353;HP:0034391	OMIM:100800;ORPHA:15	73	32	3	0	8	41	HP:0000750;HP:0002318;HP:0002650;HP:0003083;HP:0009763;HP:0011220;HP:0031353;HP:0034391
MONDO:0007268	hypertrophic cardiomyopathy 4	direct	15	OMIM:115197	32	5	1	1	8	27	HP:0001508;HP:0001631;HP:0004756;HP:0005110;HP:0008872;HP:0011664;HP:0025168;HP:0032092	OMIM:115197	32	5	1	1	8	27	HP:0001508;HP:0001631;HP:0004756;HP:0005110;HP:0008872;HP:0011664;HP:0025168;HP:0032092
MONDO:0008243	Pick disease	direct	14	OMIM:172700	19	3	1	2	8	16	HP:0000722;HP:0001250;HP:0001300;HP:0001824;HP:0002354;HP:0002381;HP:0033051;HP:5200021	OMIM:172700	19	3	1	2	8	16	HP:0000722;HP:0001250;HP:0001300;HP:0001824;HP:0002354;HP:0002381;HP:0033051;HP:5200021
MONDO:0008289	brain small vessel disease 1 with or without ocular anomalies	direct	21	OMIM:175780	51	12	0	1	8	39	HP:0000107;HP:0000631;HP:0000790;HP:0001492;HP:0003394;HP:0004944;HP:0011675;HP:0030880	OMIM:175780	51	12	0	1	8	39	HP:0000107;HP:0000631;HP:0000790;HP:0001492;HP:0003394;HP:0004944;HP:0011675;HP:0030880
MONDO:0008814	arginase deficiency	direct	23	OMIM:207800;ORPHA:90	31	14	0	1	8	17	HP:0000020;HP:0000252;HP:0001298;HP:0002376;HP:0002500;HP:0002505;HP:0002607;HP:0004322	OMIM:207800;ORPHA:90	31	14	0	1	8	17	HP:0000020;HP:0000252;HP:0001298;HP:0002376;HP:0002500;HP:0002505;HP:0002607;HP:0004322
MONDO:0008858	Behr syndrome	direct	18	OMIM:210000	34	9	0	1	8	25	HP:0000407;HP:0000519;HP:0000602;HP:0001250;HP:0002134;HP:0002401;HP:0002579;HP:0010831	OMIM:210000	34	9	0	1	8	25	HP:0000407;HP:0000519;HP:0000602;HP:0001250;HP:0002134;HP:0002401;HP:0002579;HP:0010831
MONDO:0009910	Wiedemann-Rautenstrauch syndrome	direct	48	OMIM:264090;ORPHA:3455	189	35	2	3	8	154	HP:0000260;HP:0000973;HP:0001300;HP:0001332;HP:0001894;HP:0001903;HP:0009064;HP:0100689	OMIM:264090;ORPHA:3455	189	35	2	3	8	154	HP:0000260;HP:0000973;HP:0001300;HP:0001332;HP:0001894;HP:0001903;HP:0009064;HP:0100689
MONDO:0010089	isolated sulfite oxidase deficiency	direct	19	OMIM:272300	37	7	3	1	8	30	HP:0001269;HP:0001272;HP:0002119;HP:0002187;HP:0002352;HP:0002376;HP:0011968;HP:0032807	OMIM:272300	37	7	3	1	8	30	HP:0001269;HP:0001272;HP:0002119;HP:0002187;HP:0002352;HP:0002376;HP:0011968;HP:0032807
MONDO:0010488	intellectual disability, X-linked 100	direct	11	OMIM:300923	6	2	0	1	8	4	HP:0000252;HP:0000486;HP:0000708;HP:0000717;HP:0001263;HP:0001270;HP:0002119;HP:0002126	OMIM:300923	6	2	0	1	8	4	HP:0000252;HP:0000486;HP:0000708;HP:0000717;HP:0001263;HP:0001270;HP:0002119;HP:0002126
MONDO:0010664	syndromic X-linked intellectual disability Snyder type	direct	25	OMIM:309583;ORPHA:3063	92	13	1	3	8	79	HP:0000107;HP:0000121;HP:0000365;HP:0001508;HP:0001738;HP:0002205;HP:0007703;HP:0012848	OMIM:309583;ORPHA:3063	92	13	1	3	8	79	HP:0000107;HP:0000121;HP:0000365;HP:0001508;HP:0001738;HP:0002205;HP:0007703;HP:0012848
MONDO:0011085	Charcot-Marie-Tooth disease type 4D	direct	28	OMIM:601455;ORPHA:99950	44	14	5	1	8	30	HP:0001272;HP:0002015;HP:0002093;HP:0002500;HP:0007366;HP:0010873;HP:0012820;HP:0100543	OMIM:601455;ORPHA:99950	44	14	5	1	8	30	HP:0001272;HP:0002015;HP:0002093;HP:0002500;HP:0007366;HP:0010873;HP:0012820;HP:0100543
MONDO:0011101	peroxisome biogenesis disorder 1B	direct	14	OMIM:601539	20	4	0	2	8	16	HP:0000705;HP:0000787;HP:0000846;HP:0000938;HP:0001251;HP:0001271;HP:0001410;HP:0001508	OMIM:601539	20	4	0	2	8	16	HP:0000705;HP:0000787;HP:0000846;HP:0000938;HP:0001251;HP:0001271;HP:0001410;HP:0001508
MONDO:0011570	Charcot-Marie-Tooth disease type 2B2	direct	12	OMIM:605589	8	4	0	0	8	4	HP:0000657;HP:0001260;HP:0001272;HP:0001761;HP:0002066;HP:0002505;HP:0002650;HP:0034337	OMIM:605589	8	4	0	0	8	4	HP:0000657;HP:0001260;HP:0001272;HP:0001761;HP:0002066;HP:0002505;HP:0002650;HP:0034337
MONDO:0012104	acquired partial lipodystrophy	direct	15	ORPHA:79087	17	5	1	1	8	12	HP:0000292;HP:0000716;HP:0000793;HP:0002155;HP:0005995;HP:0009002;HP:0009056;HP:0030499	ORPHA:79087	17	5	1	1	8	12	HP:0000292;HP:0000716;HP:0000793;HP:0002155;HP:0005995;HP:0009002;HP:0009056;HP:0030499
MONDO:0012324	Frias syndrome	direct	19	OMIM:609640;ORPHA:264200	41	9	0	2	8	32	HP:0000453;HP:0000568;HP:0001249;HP:0001320;HP:0001999;HP:0002020;HP:0002079;HP:0010442	OMIM:609640;ORPHA:264200	41	9	0	2	8	32	HP:0000453;HP:0000568;HP:0001249;HP:0001320;HP:0001999;HP:0002020;HP:0002079;HP:0010442
MONDO:0012591	osteogenesis imperfecta type 5	direct	14	OMIM:610967	20	4	1	1	8	16	HP:0000365;HP:0000668;HP:0002650;HP:0003196;HP:0006487;HP:0011986;HP:0030267;HP:0100959	OMIM:610967	20	4	1	1	8	16	HP:0000365;HP:0000668;HP:0002650;HP:0003196;HP:0006487;HP:0011986;HP:0030267;HP:0100959
MONDO:0012723	Leber congenital amaurosis 10	direct	9	OMIM:611755	4	1	0	0	8	3	HP:0000540;HP:0000550;HP:0000580;HP:0000613;HP:0000639;HP:0001483;HP:0011505;HP:0030211	OMIM:611755	4	1	0	0	8	3	HP:0000540;HP:0000550;HP:0000580;HP:0000613;HP:0000639;HP:0001483;HP:0011505;HP:0030211
MONDO:0013252	Warsaw breakage syndrome	direct	18	OMIM:613398	26	5	1	4	8	21	HP:0000119;HP:0000750;HP:0001250;HP:0001320;HP:0002079;HP:0002536;HP:0005775;HP:0008554	OMIM:613398	26	5	1	4	8	21	HP:0000119;HP:0000750;HP:0001250;HP:0001320;HP:0002079;HP:0002536;HP:0005775;HP:0008554
MONDO:0013540	deafness-lymphedema-leukemia syndrome	direct	12	OMIM:614038	14	4	0	0	8	10	HP:0000407;HP:0002719;HP:0006517;HP:0010976;HP:0012312;HP:0020178;HP:0032283;HP:0040218	OMIM:614038	14	4	0	0	8	10	HP:0000407;HP:0002719;HP:0006517;HP:0010976;HP:0012312;HP:0020178;HP:0032283;HP:0040218
MONDO:0013839	hereditary sensory and autonomic neuropathy type 6	direct	21	OMIM:614653	39	10	1	2	8	29	HP:0001999;HP:0002015;HP:0002028;HP:0002878;HP:0007021;HP:0007695;HP:0010871;HP:0200042	OMIM:614653	39	10	1	2	8	29	HP:0001999;HP:0002015;HP:0002028;HP:0002878;HP:0007021;HP:0007695;HP:0010871;HP:0200042
MONDO:0013989	developmental and epileptic encephalopathy, 14	direct	17	OMIM:614959	35	6	2	1	8	29	HP:0000486;HP:0001249;HP:0002104;HP:0011675;HP:0020174;HP:0031951;HP:0032786;HP:0040223	OMIM:614959	35	6	2	1	8	29	HP:0000486;HP:0001249;HP:0002104;HP:0011675;HP:0020174;HP:0031951;HP:0032786;HP:0040223
MONDO:0014000	congenital heart defects, multiple types, 2	direct	11	OMIM:614980	13	0	0	3	8	13	HP:0000365;HP:0001263;HP:0001382;HP:0001644;HP:0001702;HP:0001999;HP:0003549;HP:0004322	OMIM:614980	13	0	0	3	8	13	HP:0000365;HP:0001263;HP:0001382;HP:0001644;HP:0001702;HP:0001999;HP:0003549;HP:0004322
MONDO:0014117	Charcot-Marie-Tooth disease type 4B3	direct	16	OMIM:615284	24	3	4	1	8	21	HP:0000407;HP:0001272;HP:0001761;HP:0001883;HP:0002015;HP:0002093;HP:0002495;HP:0006824	OMIM:615284	24	3	4	1	8	21	HP:0000407;HP:0001272;HP:0001761;HP:0001883;HP:0002015;HP:0002093;HP:0002495;HP:0006824
MONDO:0014133	developmental and epileptic encephalopathy, 16	direct	19	OMIM:615338	22	6	3	2	8	16	HP:0000407;HP:0001251;HP:0001272;HP:0002373;HP:0010841;HP:0012469;HP:0032786;HP:0032794	OMIM:615338	22	6	3	2	8	16	HP:0000407;HP:0001251;HP:0001272;HP:0002373;HP:0010841;HP:0012469;HP:0032786;HP:0032794
MONDO:0014201	developmental and epileptic encephalopathy, 18	direct	12	OMIM:615476	23	2	0	2	8	21	HP:0000256;HP:0002133;HP:0002352;HP:0002376;HP:0002389;HP:0002539;HP:0011097;HP:0032388	OMIM:615476	23	2	0	2	8	21	HP:0000256;HP:0002133;HP:0002352;HP:0002376;HP:0002389;HP:0002539;HP:0011097;HP:0032388
MONDO:0014511	Charcot-Marie-Tooth disease axonal type 2S	direct	10	OMIM:616155	19	2	0	0	8	17	HP:0000763;HP:0001270;HP:0001761;HP:0002460;HP:0003477;HP:0003693;HP:0009113;HP:0012332	OMIM:616155	19	2	0	0	8	17	HP:0000763;HP:0001270;HP:0001761;HP:0002460;HP:0003477;HP:0003693;HP:0009113;HP:0012332
MONDO:0014533	developmental and epileptic encephalopathy, 28	direct	24	OMIM:616211	50	8	3	5	8	42	HP:0000556;HP:0001332;HP:0001344;HP:0002093;HP:0002376;HP:0002540;HP:0002650;HP:0011968	OMIM:616211	50	8	3	5	8	42	HP:0000556;HP:0001332;HP:0001344;HP:0002093;HP:0002376;HP:0002540;HP:0002650;HP:0011968
MONDO:0014558	autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	direct	32	OMIM:616268;ORPHA:457193	120	19	0	5	8	101	HP:0000365;HP:0001655;HP:0001875;HP:0001915;HP:0002019;HP:0002308;HP:0005214;HP:0030890	OMIM:616268;ORPHA:457193	120	19	0	5	8	101	HP:0000365;HP:0001655;HP:0001875;HP:0001915;HP:0002019;HP:0002308;HP:0005214;HP:0030890
MONDO:0014647	developmental and epileptic encephalopathy, 50	direct	17	OMIM:616457	25	8	1	0	8	17	HP:0000486;HP:0001251;HP:0001272;HP:0001337;HP:0002059;HP:0002188;HP:0020174;HP:0045048	OMIM:616457	25	8	1	0	8	17	HP:0000486;HP:0001251;HP:0001272;HP:0001337;HP:0002059;HP:0002188;HP:0020174;HP:0045048
MONDO:0014667	cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3	direct	10	OMIM:616500	5	2	0	0	8	3	HP:0002093;HP:0002789;HP:0003128;HP:0003219;HP:0003648;HP:0005144;HP:0012817;HP:0031142	OMIM:616500	5	2	0	0	8	3	HP:0002093;HP:0002789;HP:0003128;HP:0003219;HP:0003648;HP:0005144;HP:0012817;HP:0031142
MONDO:0014820	mitochondrial DNA depletion syndrome 14B (cardioencephalomyopathic type)	direct	17	OMIM:616896	22	8	0	1	8	14	HP:0000512;HP:0000649;HP:0001290;HP:0001298;HP:0001508;HP:0002020;HP:0003324;HP:0011344	OMIM:616896	22	8	0	1	8	14	HP:0000512;HP:0000649;HP:0001290;HP:0001298;HP:0001508;HP:0002020;HP:0003324;HP:0011344
MONDO:0014947	developmental and epileptic encephalopathy, 46	direct	19	OMIM:617162	21	5	4	2	8	16	HP:0000729;HP:0001249;HP:0001257;HP:0001332;HP:0002072;HP:0002360;HP:0010841;HP:0020174	OMIM:617162	21	5	4	2	8	16	HP:0000729;HP:0001249;HP:0001257;HP:0001332;HP:0002072;HP:0002360;HP:0010841;HP:0020174
MONDO:0015002	developmental and epileptic encephalopathy, 49	direct	18	OMIM:617281	42	6	2	2	8	36	HP:0000817;HP:0001249;HP:0001302;HP:0002079;HP:0002540;HP:0006872;HP:0011097;HP:0020174	OMIM:617281	42	6	2	2	8	36	HP:0000817;HP:0001249;HP:0001302;HP:0002079;HP:0002540;HP:0006872;HP:0011097;HP:0020174
MONDO:0018305	chronic granulomatous disease	direct	11	ORPHA:379	22	3	0	0	8	19	HP:0002090;HP:0002583;HP:0002718;HP:0002722;HP:0002754;HP:0002840;HP:0002841;HP:0002955	OMIM:233690;OMIM:233700;OMIM:233710;OMIM:306400;OMIM:613960;OMIM:618935;ORPHA:379	89	8	2	1	0	81	
MONDO:0020780	cone-rod dystrophy and hearing loss 2	direct	10	OMIM:618358	4	2	0	0	8	2	HP:0000408;HP:0000512;HP:0000548;HP:0001133;HP:0007737;HP:0008596;HP:0030602;HP:0030609	OMIM:618358	4	2	0	0	8	2	HP:0000408;HP:0000512;HP:0000548;HP:0001133;HP:0007737;HP:0008596;HP:0030602;HP:0030609
MONDO:0030055	neuronopathy, distal hereditary motor, autosomal recessive 8	direct	12	OMIM:618912	12	3	0	1	8	9	HP:0001315;HP:0001337;HP:0001347;HP:0002936;HP:0003236;HP:0003693;HP:0007002;HP:0009027	OMIM:618912	12	3	0	1	8	9	HP:0001315;HP:0001337;HP:0001347;HP:0002936;HP:0003236;HP:0003693;HP:0007002;HP:0009027
MONDO:0030070	heterotaxy, visceral, 9, autosomal, with male infertility	direct	13	OMIM:618948	7	4	0	1	8	3	HP:0000798;HP:0002205;HP:0002257;HP:0002643;HP:0012207;HP:0012256;HP:0012864;HP:0030853	OMIM:618948	7	4	0	1	8	3	HP:0000798;HP:0002205;HP:0002257;HP:0002643;HP:0012207;HP:0012256;HP:0012864;HP:0030853
MONDO:0030491	immunodeficiency 91 and hyperinflammation	direct	20	OMIM:619644	45	11	1	0	8	34	HP:0001903;HP:0001974;HP:0002376;HP:0002500;HP:0003256;HP:0004429;HP:0011274;HP:0033677	OMIM:619644	45	11	1	0	8	34	HP:0001903;HP:0001974;HP:0002376;HP:0002500;HP:0003256;HP:0004429;HP:0011274;HP:0033677
MONDO:0030528	immunodeficiency 93 and hypertrophic cardiomyopathy	direct	14	OMIM:619705	21	6	0	0	8	15	HP:0001508;HP:0001631;HP:0001712;HP:0002028;HP:0002205;HP:0002719;HP:0004755;HP:0100828	OMIM:619705	21	6	0	0	8	15	HP:0001508;HP:0001631;HP:0001712;HP:0002028;HP:0002205;HP:0002719;HP:0004755;HP:0100828
MONDO:0030606	Bryant-Li-Bhoj neurodevelopmental syndrome 1	direct	24	OMIM:619720	67	9	1	6	8	58	HP:0000028;HP:0000365;HP:0001363;HP:0001999;HP:0002188;HP:0004322;HP:0011968;HP:0100595	OMIM:619720	67	9	1	6	8	58	HP:0000028;HP:0000365;HP:0001363;HP:0001999;HP:0002188;HP:0004322;HP:0011968;HP:0100595
MONDO:0030873	cardiofacioneurodevelopmental syndrome	direct	26	OMIM:619123	25	14	0	4	8	11	HP:0000405;HP:0001249;HP:0001773;HP:0001999;HP:0002079;HP:0004322;HP:0008897;HP:0200055	OMIM:619123	25	14	0	4	8	11	HP:0000405;HP:0001249;HP:0001773;HP:0001999;HP:0002079;HP:0004322;HP:0008897;HP:0200055
MONDO:0031047	Stickler syndrome, type 6	direct	12	OMIM:620022	13	4	0	0	8	9	HP:0000518;HP:0000541;HP:0002655;HP:0002656;HP:0002980;HP:0003088;HP:0004327;HP:0200071	OMIM:620022	13	4	0	0	8	9	HP:0000518;HP:0000541;HP:0002655;HP:0002656;HP:0002980;HP:0003088;HP:0004327;HP:0200071
MONDO:0032526	spinocerebellar ataxia 48	direct	21	OMIM:618093	23	11	0	2	8	12	HP:0000012;HP:0000549;HP:0000708;HP:0000717;HP:0000751;HP:0001276;HP:0009830;HP:0033051	OMIM:618093	23	11	0	2	8	12	HP:0000012;HP:0000549;HP:0000708;HP:0000717;HP:0000751;HP:0001276;HP:0009830;HP:0033051
MONDO:0032678	developmental and epileptic encephalopathy, 71	direct	13	OMIM:618328	12	3	2	0	8	9	HP:0002059;HP:0002104;HP:0002181;HP:0003217;HP:0003348;HP:0031358;HP:0500197;HP:0500230	OMIM:618328	12	3	2	0	8	9	HP:0002059;HP:0002104;HP:0002181;HP:0003217;HP:0003348;HP:0031358;HP:0500197;HP:0500230
MONDO:0032753	spastic ataxia 9, autosomal recessive	direct	22	OMIM:618438	26	9	2	3	8	17	HP:0000365;HP:0001260;HP:0001268;HP:0001284;HP:0001320;HP:0003477;HP:0007006;HP:0007190	OMIM:618438	26	9	2	3	8	17	HP:0000365;HP:0001260;HP:0001268;HP:0001284;HP:0001320;HP:0003477;HP:0007006;HP:0007190
MONDO:0033203	nephrotic syndrome 14	direct	25	OMIM:617575	36	15	2	0	8	21	HP:0001508;HP:0001626;HP:0001903;HP:0002719;HP:0004319;HP:0006824;HP:0007370;HP:0010512	OMIM:617575	36	15	2	0	8	21	HP:0001508;HP:0001626;HP:0001903;HP:0002719;HP:0004319;HP:0006824;HP:0007370;HP:0010512
MONDO:0033361	developmental and epileptic encephalopathy, 52	direct	17	OMIM:617350	16	5	2	2	8	11	HP:0000252;HP:0000407;HP:0001347;HP:0002059;HP:0002376;HP:0004308;HP:0010851;HP:0033258	OMIM:617350	16	5	2	2	8	11	HP:0000252;HP:0000407;HP:0001347;HP:0002059;HP:0002376;HP:0004308;HP:0010851;HP:0033258
MONDO:0033541	immunodeficiency 69	direct	17	OMIM:618963	16	9	0	0	8	7	HP:0002155;HP:0002500;HP:0002840;HP:0002910;HP:0032070;HP:0032283;HP:0033253;HP:0200042	OMIM:618963	16	9	0	0	8	7	HP:0002155;HP:0002500;HP:0002840;HP:0002910;HP:0032070;HP:0032283;HP:0033253;HP:0200042
MONDO:0035133	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	direct	34	OMIM:617991;ORPHA:589905	58	21	2	3	8	37	HP:0000079;HP:0000716;HP:0000729;HP:0000821;HP:0000876;HP:0001156;HP:0002311;HP:0040270	OMIM:617991;ORPHA:589905	58	21	2	3	8	37	HP:0000079;HP:0000716;HP:0000729;HP:0000821;HP:0000876;HP:0001156;HP:0002311;HP:0040270
MONDO:0044312	immunoskeletal dysplasia with neurodevelopmental abnormalities	direct	34	OMIM:617425	92	23	1	2	8	69	HP:0000670;HP:0001629;HP:0001634;HP:0003212;HP:0003311;HP:0005403;HP:0008807;HP:0030043	OMIM:617425	92	23	1	2	8	69	HP:0000670;HP:0001629;HP:0001634;HP:0003212;HP:0003311;HP:0005403;HP:0008807;HP:0030043
MONDO:0859189	muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome	direct	20	OMIM:619518	21	10	2	0	8	11	HP:0001252;HP:0001284;HP:0002910;HP:0003202;HP:0003326;HP:0003701;HP:0008981;HP:0034392	OMIM:619518	21	10	2	0	8	11	HP:0001252;HP:0001284;HP:0002910;HP:0003202;HP:0003326;HP:0003701;HP:0008981;HP:0034392
MONDO:0859232	neurodevelopmental disorder with central hypotonia and dysmorphic facies	direct	31	OMIM:619797	38	21	0	2	8	17	HP:0000540;HP:0000565;HP:0000733;HP:0001249;HP:0002451;HP:0004482;HP:0025404;HP:0030043	OMIM:619797	38	21	0	2	8	17	HP:0000540;HP:0000565;HP:0000733;HP:0001249;HP:0002451;HP:0004482;HP:0025404;HP:0030043
MONDO:0958226	leukoencephalopathy, porphyria-related	direct	14	OMIM:620711	18	5	1	0	8	13	HP:0000518;HP:0000619;HP:0001250;HP:0001252;HP:0001263;HP:0002352;HP:0003477;HP:0025721	OMIM:620711	18	5	1	0	8	13	HP:0000518;HP:0000619;HP:0001250;HP:0001252;HP:0001263;HP:0002352;HP:0003477;HP:0025721
MONDO:0971172	neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language	direct	34	OMIM:620851	211	23	1	2	8	188	HP:0000079;HP:0000093;HP:0000772;HP:0000938;HP:0001382;HP:0001385;HP:0001762;HP:0002757	OMIM:620851	211	23	1	2	8	188	HP:0000079;HP:0000093;HP:0000772;HP:0000938;HP:0001382;HP:0001385;HP:0001762;HP:0002757
MONDO:0004496	myocarditis	subtree_only	13									ORPHA:329874	17	5	0	0	8	12	HP:0001644;HP:0001880;HP:0002094;HP:0004308;HP:0012819;HP:0100614;HP:0100749;HP:0410173
MONDO:0005364	Graves disease	subtree_only	27									ORPHA:525731	48	17	1	1	8	31	HP:0000651;HP:0000716;HP:0000739;HP:0000876;HP:0001824;HP:0002046;HP:0003701;HP:0012378
MONDO:0015203	coronary artery congenital malformation	subtree_only	13									ORPHA:2041	27	3	2	0	8	24	HP:0001653;HP:0005145;HP:0011636;HP:0011638;HP:0011641;HP:0011686;HP:0025503;HP:0100749
MONDO:0100154	TUBB3-related tubulinopathy	subtree_only	13									OMIM:600638	20	3	0	2	8	17	HP:0000252;HP:0001249;HP:0001250;HP:0001257;HP:0001321;HP:0002363;HP:0012110;HP:0032398
MONDO:0800105	catatonia	subtree_only	16									ORPHA:648919	16	7	0	1	8	9	HP:0001649;HP:0001945;HP:0002090;HP:0002204;HP:0002304;HP:0002625;HP:0003201;HP:0005521
MONDO:0001056	gastric cancer	direct	9	OMIM:613659	3	0	0	0	9	3	HP:0001824;HP:0001903;HP:0002015;HP:0002018;HP:0002027;HP:0002239;HP:0002240;HP:0002716;HP:0012378	OMIM:613659;OMIM:619182	8	1	0	1	7	7	HP:0001824;HP:0001903;HP:0002015;HP:0002018;HP:0002240;HP:0002716;HP:0012378
MONDO:0002009	major depressive disorder	direct	8	OMIM:608516	2	1	0	0	7	1	HP:0000713;HP:0002354;HP:0002360;HP:0004396;HP:0012154;HP:0012378;HP:0100543	OMIM:608516	2	1	0	0	7	1	HP:0000713;HP:0002354;HP:0002360;HP:0004396;HP:0012154;HP:0012378;HP:0100543
MONDO:0005737	Ebola hemorrhagic fever	direct	16	ORPHA:319218	29	9	0	0	7	20	HP:0001410;HP:0001944;HP:0002910;HP:0003111;HP:0003326;HP:0012378;HP:0031273	ORPHA:319218	29	9	0	0	7	20	HP:0001410;HP:0001944;HP:0002910;HP:0003111;HP:0003326;HP:0012378;HP:0031273
MONDO:0006664	atrial septal defect	direct	11	ORPHA:1478	19	3	0	1	7	16	HP:0001708;HP:0003546;HP:0012382;HP:0030718;HP:0031662;HP:0033118;HP:0033520	OMIM:108800;OMIM:108900;OMIM:607941;OMIM:611363;OMIM:612794;OMIM:613087;OMIM:614089;OMIM:614433;OMIM:614475;ORPHA:1478;ORPHA:1479;ORPHA:99103;ORPHA:99104;ORPHA:99105;ORPHA:99106	95	9	1	1	0	86	
MONDO:0006761	fibromuscular dysplasia	direct	10	OMIM:135580	7	1	1	1	7	6	HP:0002315;HP:0002617;HP:0005116;HP:0005294;HP:0007029;HP:0008629;HP:0100545	OMIM:135580	7	1	1	1	7	6	HP:0002315;HP:0002617;HP:0005116;HP:0005294;HP:0007029;HP:0008629;HP:0100545
MONDO:0007477	3-M syndrome	direct	27	ORPHA:2616	42	19	1	0	7	23	HP:0000135;HP:0000767;HP:0000768;HP:0001763;HP:0003298;HP:0004482;HP:0012428	OMIM:273750;OMIM:612921;OMIM:614205;ORPHA:2616	85	26	1	0	0	59	
MONDO:0007982	metaphyseal chondrodysplasia, Jansen type	direct	14	OMIM:156400;ORPHA:33067	59	5	1	1	7	54	HP:0000787;HP:0000822;HP:0001386;HP:0002650;HP:0003016;HP:0011220;HP:0012622	OMIM:156400;ORPHA:33067	59	5	1	1	7	54	HP:0000787;HP:0000822;HP:0001386;HP:0002650;HP:0003016;HP:0011220;HP:0012622
MONDO:0008025	neuronopathy, distal hereditary motor, type 2A	direct	8	OMIM:158590	8	1	0	0	7	7	HP:0001348;HP:0001374;HP:0001883;HP:0002936;HP:0003693;HP:0007002;HP:0031936	OMIM:158590	8	1	0	0	7	7	HP:0001348;HP:0001374;HP:0001883;HP:0002936;HP:0003693;HP:0007002;HP:0031936
MONDO:0008135	optic atrophy 13 with retinal and foveal abnormalities	direct	10	OMIM:165510	8	3	0	0	7	5	HP:0000083;HP:0000510;HP:0000551;HP:0000609;HP:0000821;HP:0030613;HP:0031605	OMIM:165510	8	3	0	0	7	5	HP:0000083;HP:0000510;HP:0000551;HP:0000609;HP:0000821;HP:0030613;HP:0031605
MONDO:0008158	dacryocystitis-osteopoikilosis syndrome	direct	10	OMIM:166705	3	2	0	1	7	1	HP:0001386;HP:0002829;HP:0005679;HP:0007678;HP:0009926;HP:0010562;HP:0012276	OMIM:166705	3	2	0	1	7	1	HP:0001386;HP:0002829;HP:0005679;HP:0007678;HP:0009926;HP:0010562;HP:0012276
MONDO:0008702	achondrogenesis type II	direct	24	OMIM:200610;ORPHA:93296	49	16	1	0	7	33	HP:0000470;HP:0001591;HP:0002643;HP:0002878;HP:0003016;HP:0004482;HP:0011220	OMIM:200610;ORPHA:93296	49	16	1	0	7	33	HP:0000470;HP:0001591;HP:0002643;HP:0002878;HP:0003016;HP:0004482;HP:0011220
MONDO:0008767	neuronal ceroid lipofuscinosis 3	direct	16	OMIM:204200	32	6	0	3	7	26	HP:0000708;HP:0002333;HP:0002360;HP:0002463;HP:0011504;HP:0031546;HP:0033454	OMIM:204200	32	6	0	3	7	26	HP:0000708;HP:0002333;HP:0002360;HP:0002463;HP:0011504;HP:0031546;HP:0033454
MONDO:0008846	atransferrinemia	direct	17	OMIM:209300;ORPHA:1195	11	2	8	0	7	9	HP:0000819;HP:0000980;HP:0001510;HP:0003281;HP:0012378;HP:0033211;HP:0040303	OMIM:209300;ORPHA:1195	11	2	8	0	7	9	HP:0000819;HP:0000980;HP:0001510;HP:0003281;HP:0012378;HP:0033211;HP:0040303
MONDO:0008871	microcephalic osteodysplastic primordial dwarfism type I	direct	17	OMIM:210710	107	6	0	4	7	101	HP:0000556;HP:0001010;HP:0001297;HP:0002652;HP:0004313;HP:0007894;HP:0011358	OMIM:210710	107	6	0	4	7	101	HP:0000556;HP:0001010;HP:0001297;HP:0002652;HP:0004313;HP:0007894;HP:0011358
MONDO:0009025	apparent mineralocorticoid excess	direct	15	OMIM:218030;ORPHA:320	21	8	0	0	7	13	HP:0000103;HP:0000384;HP:0000527;HP:0002007;HP:0002150;HP:0002299;HP:0005280	OMIM:218030;ORPHA:320	21	8	0	0	7	13	HP:0000103;HP:0000384;HP:0000527;HP:0002007;HP:0002150;HP:0002299;HP:0005280
MONDO:0009426	hypoparathyroidism-retardation-dysmorphism syndrome	direct	16	OMIM:241410;ORPHA:2323	54	8	0	1	7	46	HP:0000121;HP:0000592;HP:0001518;HP:0004389;HP:0011840;HP:0032140;HP:0100254	OMIM:241410;ORPHA:2323	54	8	0	1	7	46	HP:0000121;HP:0000592;HP:0001518;HP:0004389;HP:0011840;HP:0032140;HP:0100254
MONDO:0009511	Larsen-like syndrome, B3GAT3 type	direct	30	OMIM:245600	82	17	1	5	7	65	HP:0000365;HP:0001004;HP:0001166;HP:0001263;HP:0007957;HP:0008462;HP:0011300	OMIM:245600	82	17	1	5	7	65	HP:0000365;HP:0001004;HP:0001166;HP:0001263;HP:0007957;HP:0008462;HP:0011300
MONDO:0009652	GNPTG-mucolipidosis	direct	9	OMIM:252605	28	1	0	1	7	27	HP:0001270;HP:0001653;HP:0002091;HP:0002652;HP:0012185;HP:0012532;HP:0100543	OMIM:252605	28	1	0	1	7	27	HP:0001270;HP:0001653;HP:0002091;HP:0002652;HP:0012185;HP:0012532;HP:0100543
MONDO:0010150	head and neck squamous cell carcinoma	direct	7	OMIM:275355	2	0	0	0	7	2	HP:0000155;HP:0001609;HP:0001824;HP:0002015;HP:0002716;HP:0030766;HP:0032043	OMIM:275355	2	0	0	0	7	2	HP:0000155;HP:0001609;HP:0001824;HP:0002015;HP:0002716;HP:0030766;HP:0032043
MONDO:0010261	microphthalmia, syndromic 2	direct	24	OMIM:300166;ORPHA:2712	94	16	0	1	7	78	HP:0001252;HP:0001746;HP:0002059;HP:0002665;HP:0009830;HP:0010627;HP:0012032	OMIM:300166;ORPHA:2712	94	16	0	1	7	78	HP:0001252;HP:0001746;HP:0002059;HP:0002665;HP:0009830;HP:0010627;HP:0012032
MONDO:0010275	spondyloepimetaphyseal dysplasia, Bieganski type	direct	14	OMIM:300232;ORPHA:83629	68	4	1	2	7	64	HP:0000252;HP:0000407;HP:0000546;HP:0001263;HP:0001382;HP:0002344;HP:0002657	OMIM:300232;ORPHA:83629	68	4	1	2	7	64	HP:0000252;HP:0000407;HP:0000546;HP:0001263;HP:0001382;HP:0002344;HP:0002657
MONDO:0010354	Allan-Herndon-Dudley syndrome	direct	26	OMIM:300523;ORPHA:59	79	12	5	2	7	67	HP:0002015;HP:0002827;HP:0003199;HP:0004421;HP:0006699;HP:0011951;HP:0033075	OMIM:300523;ORPHA:59	79	12	5	2	7	67	HP:0002015;HP:0002827;HP:0003199;HP:0004421;HP:0006699;HP:0011951;HP:0033075
MONDO:0010814	chondrodysplasia-pseudohermaphroditism syndrome	direct	19	OMIM:600092;ORPHA:1422	38	9	1	2	7	29	HP:0000133;HP:0000508;HP:0000545;HP:0000568;HP:0000786;HP:0001360;HP:0002652	OMIM:600092;ORPHA:1422	38	9	1	2	7	29	HP:0000133;HP:0000508;HP:0000545;HP:0000568;HP:0000786;HP:0001360;HP:0002652
MONDO:0011038	cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome	direct	25	OMIM:601338;ORPHA:1171	41	15	3	0	7	26	HP:0001254;HP:0001272;HP:0001336;HP:0002076;HP:0002376;HP:0003115;HP:0006958	OMIM:601338;ORPHA:1171	41	15	3	0	7	26	HP:0001254;HP:0001272;HP:0001336;HP:0002076;HP:0002376;HP:0003115;HP:0006958
MONDO:0011628	propionic acidemia	direct	17	OMIM:606054;ORPHA:35	41	9	1	0	7	32	HP:0000365;HP:0000648;HP:0000717;HP:0001657;HP:0003201;HP:0012128;HP:0012622	OMIM:606054;ORPHA:35	41	9	1	0	7	32	HP:0000365;HP:0000648;HP:0000717;HP:0001657;HP:0003201;HP:0012128;HP:0012622
MONDO:0011629	MOGS-congenital disorder of glycosylation	direct	26	OMIM:606056;ORPHA:79330	59	15	0	4	7	44	HP:0000252;HP:0000400;HP:0000505;HP:0001508;HP:0002719;HP:0002804;HP:0200134	OMIM:606056;ORPHA:79330	59	15	0	4	7	44	HP:0000252;HP:0000400;HP:0000505;HP:0001508;HP:0002719;HP:0002804;HP:0200134
MONDO:0011877	autosomal dominant osteopetrosis 1	direct	11	OMIM:607634	14	2	0	2	7	12	HP:0000458;HP:0001085;HP:0002308;HP:0002516;HP:0002653;HP:0003155;HP:0004493	OMIM:607634	14	2	0	2	7	12	HP:0000458;HP:0001085;HP:0002308;HP:0002516;HP:0002653;HP:0003155;HP:0004493
MONDO:0012081	15q11q13 microduplication syndrome	direct	18	OMIM:608636;ORPHA:238446	40	5	1	5	7	35	HP:0000709;HP:0001270;HP:0002019;HP:0002020;HP:0002360;HP:0011968;HP:0033258	OMIM:608636;ORPHA:238446	40	5	1	5	7	35	HP:0000709;HP:0001270;HP:0002019;HP:0002020;HP:0002360;HP:0011968;HP:0033258
MONDO:0012111	hypertrophic cardiomyopathy 8	direct	13	OMIM:608751	16	6	0	0	7	10	HP:0001297;HP:0001685;HP:0003198;HP:0004756;HP:0005110;HP:0032092;HP:6000144	OMIM:608751	16	6	0	0	7	10	HP:0001297;HP:0001685;HP:0003198;HP:0004756;HP:0005110;HP:0032092;HP:6000144
MONDO:0012534	combined oxidative phosphorylation defect type 4	direct	12	OMIM:610678	19	4	0	1	7	15	HP:0000407;HP:0000648;HP:0001410;HP:0001639;HP:0001644;HP:0002352;HP:0012622	OMIM:610678	19	4	0	1	7	15	HP:0000407;HP:0000648;HP:0001410;HP:0001639;HP:0001644;HP:0002352;HP:0012622
MONDO:0012556	DK1-congenital disorder of glycosylation	direct	15	OMIM:610768;ORPHA:91131	52	5	0	3	7	47	HP:0000083;HP:0001762;HP:0001882;HP:0001935;HP:0001999;HP:0003074;HP:0010491	OMIM:610768;ORPHA:91131	52	5	0	3	7	47	HP:0000083;HP:0001762;HP:0001882;HP:0001935;HP:0001999;HP:0003074;HP:0010491
MONDO:0012806	ectodermal dysplasia and immunodeficiency 2	direct	11	OMIM:612132	20	2	1	1	7	18	HP:0000607;HP:0003496;HP:0004432;HP:0010976;HP:0011274;HP:0033581;HP:0100827	OMIM:612132	20	2	1	1	7	18	HP:0000607;HP:0003496;HP:0004432;HP:0010976;HP:0011274;HP:0033581;HP:0100827
MONDO:0013111	acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins	direct	14	OMIM:613070	27	4	0	3	7	23	HP:0001250;HP:0001263;HP:0001508;HP:0001638;HP:0001943;HP:0001987;HP:0012751	OMIM:613070	27	4	0	3	7	23	HP:0001250;HP:0001263;HP:0001508;HP:0001638;HP:0001943;HP:0001987;HP:0012751
MONDO:0013352	intellectual disability-severe speech delay-mild dysmorphism syndrome	direct	46	OMIM:613670;ORPHA:391372	82	27	9	3	7	55	HP:0000960;HP:0001260;HP:0002015;HP:0002360;HP:0004322;HP:0007099;HP:0012443	OMIM:613670;ORPHA:391372	82	27	9	3	7	55	HP:0000960;HP:0001260;HP:0002015;HP:0002360;HP:0004322;HP:0007099;HP:0012443
MONDO:0013362	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	direct	33	OMIM:613680;ORPHA:363444	54	17	8	1	7	37	HP:0000175;HP:0001250;HP:0001518;HP:0001545;HP:0003468;HP:0004322;HP:0011968	OMIM:613680;ORPHA:363444	54	17	8	1	7	37	HP:0000175;HP:0001250;HP:0001518;HP:0001545;HP:0003468;HP:0004322;HP:0011968
MONDO:0013509	intellectual disability, autosomal dominant 6	direct	15	OMIM:613970	20	4	3	1	7	16	HP:0000736;HP:0000750;HP:0001999;HP:0002360;HP:0002487;HP:0011968;HP:0100704	OMIM:613970	20	4	3	1	7	16	HP:0000736;HP:0000750;HP:0001999;HP:0002360;HP:0002487;HP:0011968;HP:0100704
MONDO:0013864	Cornelia de Lange syndrome 4	direct	15	OMIM:614701	47	6	0	2	7	41	HP:0000365;HP:0000505;HP:0000739;HP:0000750;HP:0001007;HP:0001249;HP:0009237	OMIM:614701	47	6	0	2	7	41	HP:0000365;HP:0000505;HP:0000739;HP:0000750;HP:0001007;HP:0001249;HP:0009237
MONDO:0013927	peroxisome biogenesis disorder 3A (Zellweger)	direct	13	OMIM:614859	19	2	1	3	7	17	HP:0000407;HP:0000518;HP:0000556;HP:0000846;HP:0001410;HP:0002126;HP:0002282	OMIM:614859	19	2	1	3	7	17	HP:0000407;HP:0000518;HP:0000556;HP:0000846;HP:0001410;HP:0002126;HP:0002282
MONDO:0013931	peroxisome biogenesis disorder 4B	direct	13	OMIM:614863;ORPHA:95433	40	6	0	0	7	34	HP:0000705;HP:0000787;HP:0000938;HP:0001271;HP:0002376;HP:0002415;HP:0003159	OMIM:614863;ORPHA:95433	40	6	0	0	7	34	HP:0000705;HP:0000787;HP:0000938;HP:0001271;HP:0002376;HP:0002415;HP:0003159
MONDO:0014016	hereditary spastic paraplegia 49	direct	15	OMIM:615031;ORPHA:320385	30	5	0	3	7	25	HP:0000708;HP:0001265;HP:0002015;HP:0002579;HP:0002835;HP:0007110;HP:0012332	OMIM:615031;ORPHA:320385	30	5	0	3	7	25	HP:0000708;HP:0001265;HP:0002015;HP:0002579;HP:0002835;HP:0007110;HP:0012332
MONDO:0014035	severe intellectual disability-progressive spastic diplegia syndrome	direct	23	OMIM:615075;ORPHA:404473	53	13	3	0	7	40	HP:0000750;HP:0001324;HP:0001332;HP:0001627;HP:0002067;HP:0002267;HP:0008070	OMIM:615075;ORPHA:404473	53	13	3	0	7	40	HP:0000750;HP:0001324;HP:0001332;HP:0001627;HP:0002067;HP:0002267;HP:0008070
MONDO:0014063	mitochondrial complex III deficiency nuclear type 2	direct	12	OMIM:615157	51	3	0	2	7	48	HP:0001252;HP:0002134;HP:0002363;HP:0002371;HP:0003128;HP:0008303;HP:0009830	OMIM:615157	51	3	0	2	7	48	HP:0001252;HP:0002134;HP:0002363;HP:0002371;HP:0003128;HP:0008303;HP:0009830
MONDO:0014163	left ventricular noncompaction 10	direct	8	OMIM:615396	9	1	0	0	7	8	HP:0001508;HP:0001639;HP:0001643;HP:0001671;HP:0002094;HP:0011664;HP:0011968	OMIM:615396	9	1	0	0	7	8	HP:0001508;HP:0001639;HP:0001643;HP:0001671;HP:0002094;HP:0011664;HP:0011968
MONDO:0014205	severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	direct	31	OMIM:615485;ORPHA:352577	107	22	2	0	7	85	HP:0000077;HP:0001332;HP:0001382;HP:0001513;HP:0002305;HP:0002883;HP:0007018	OMIM:615485;ORPHA:352577	107	22	2	0	7	85	HP:0000077;HP:0001332;HP:0001382;HP:0001513;HP:0002305;HP:0002883;HP:0007018
MONDO:0014209	early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome	direct	21	OMIM:615491	40	9	2	3	7	31	HP:0001250;HP:0001639;HP:0001645;HP:0001999;HP:0002650;HP:0002877;HP:0100543	OMIM:615491	40	9	2	3	7	31	HP:0001250;HP:0001639;HP:0001645;HP:0001999;HP:0002650;HP:0002877;HP:0100543
MONDO:0014217	telangiectasia, hereditary hemorrhagic, type 5	direct	10	OMIM:615506	5	0	2	1	7	5	HP:0000961;HP:0001217;HP:0001901;HP:0002092;HP:0006548;HP:0012418;HP:0100659	OMIM:615506	5	0	2	1	7	5	HP:0000961;HP:0001217;HP:0001901;HP:0002092;HP:0006548;HP:0012418;HP:0100659
MONDO:0014317	pancytopenia-developmental delay syndrome	direct	11	OMIM:615715	10	4	0	0	7	6	HP:0000556;HP:0001251;HP:0001263;HP:0001875;HP:0001876;HP:0002863;HP:0004808	OMIM:615715	10	4	0	0	7	6	HP:0000556;HP:0001251;HP:0001263;HP:0001875;HP:0001876;HP:0002863;HP:0004808
MONDO:0014523	juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome	direct	16	OMIM:616192;ORPHA:445062	27	7	0	2	7	20	HP:0000252;HP:0000556;HP:0000821;HP:0000825;HP:0001732;HP:0001999;HP:0002500	OMIM:616192;ORPHA:445062	27	7	0	2	7	20	HP:0000252;HP:0000556;HP:0000821;HP:0000825;HP:0001732;HP:0001999;HP:0002500
MONDO:0014706	cutis laxa, autosomal dominant 3	direct	16	OMIM:616603	35	7	0	2	7	28	HP:0002061;HP:0002119;HP:0002500;HP:0003467;HP:0004322;HP:0033725;HP:0034392	OMIM:616603	35	7	0	2	7	28	HP:0002061;HP:0002119;HP:0002500;HP:0003467;HP:0004322;HP:0033725;HP:0034392
MONDO:0014718	developmental and epileptic encephalopathy, 34	direct	15	OMIM:616645	16	6	1	1	7	10	HP:0001274;HP:0002100;HP:0002119;HP:0008936;HP:0011968;HP:0012430;HP:0033725	OMIM:616645	16	6	1	1	7	10	HP:0001274;HP:0002100;HP:0002119;HP:0008936;HP:0011968;HP:0012430;HP:0033725
MONDO:0014921	developmental and epileptic encephalopathy, 43	direct	14	OMIM:617113	18	4	0	3	7	14	HP:0001273;HP:0001332;HP:0002373;HP:0002539;HP:0007359;HP:0010841;HP:0012448	OMIM:617113	18	4	0	3	7	14	HP:0001273;HP:0001332;HP:0002373;HP:0002539;HP:0007359;HP:0010841;HP:0012448
MONDO:0014933	developmental and epileptic encephalopathy, 44	direct	19	OMIM:617132	26	7	1	4	7	19	HP:0002509;HP:0002521;HP:0002878;HP:0010841;HP:0020174;HP:0025404;HP:0030890	OMIM:617132	26	7	1	4	7	19	HP:0002509;HP:0002521;HP:0002878;HP:0010841;HP:0020174;HP:0025404;HP:0030890
MONDO:0015004	dystonia 28, childhood-onset	direct	26	OMIM:617284;ORPHA:589618	47	17	0	2	7	30	HP:0000407;HP:0000722;HP:0001250;HP:0001251;HP:0001511;HP:0001621;HP:0002835	OMIM:617284;ORPHA:589618	47	17	0	2	7	30	HP:0000407;HP:0000722;HP:0001250;HP:0001251;HP:0001511;HP:0001621;HP:0002835
MONDO:0016060	laryngotracheoesophageal cleft	direct	14	ORPHA:2004	13	5	1	1	7	8	HP:0002013;HP:0002090;HP:0002781;HP:0011951;HP:0030828;HP:0033542;HP:0100750	OMIM:215800;ORPHA:2004;ORPHA:93941	26	5	1	1	7	21	HP:0002013;HP:0002090;HP:0002781;HP:0011951;HP:0030828;HP:0033542;HP:0100750
MONDO:0017715	3-hydroxyacyl-CoA dehydrogenase deficiency	direct	11	OMIM:231530	16	3	0	1	7	13	HP:0000252;HP:0000825;HP:0001249;HP:0001254;HP:0001998;HP:0012051;HP:0045045	OMIM:231530	16	3	0	1	7	13	HP:0000252;HP:0000825;HP:0001249;HP:0001254;HP:0001998;HP:0012051;HP:0045045
MONDO:0017813	van Maldergem syndrome	direct	20	ORPHA:314679	44	6	1	2	11	38	HP:0000044;HP:0000122;HP:0000413;HP:0000506;HP:0000826;HP:0001319;HP:0002311;HP:0002650;HP:0010044;HP:0034681;HP:0100783	OMIM:601390;OMIM:615546;ORPHA:314679	97	12	1	0	7	85	HP:0000044;HP:0000122;HP:0000506;HP:0000826;HP:0002311;HP:0034681;HP:0100783
MONDO:0017858	acute erythroid leukemia	direct	9	ORPHA:318	9	1	1	0	7	8	HP:0000980;HP:0001433;HP:0001873;HP:0001875;HP:0001909;HP:0001945;HP:0031688	ORPHA:318	9	1	1	0	7	8	HP:0000980;HP:0001433;HP:0001873;HP:0001875;HP:0001909;HP:0001945;HP:0031688
MONDO:0018089	double outlet right ventricle	direct	17	ORPHA:3426	28	10	0	0	7	18	HP:0001635;HP:0001667;HP:0001674;HP:0001682;HP:0002092;HP:0011611;HP:0012418	ORPHA:3426	28	10	0	0	7	18	HP:0001635;HP:0001667;HP:0001674;HP:0001682;HP:0002092;HP:0011611;HP:0012418
MONDO:0019078	Ritscher-Schinzel syndrome	direct	17	ORPHA:7	64	7	1	2	7	57	HP:0000093;HP:0001513;HP:0001999;HP:0002593;HP:0002870;HP:0003124;HP:0004313	OMIM:220210;OMIM:300963;OMIM:619135;OMIM:619435;ORPHA:7	155	8	0	2	7	147	HP:0000093;HP:0001513;HP:0001999;HP:0002593;HP:0002870;HP:0003124;HP:0004313
MONDO:0019407	microcephalic osteodysplastic dysplasia, Saul-Wilson type	direct	14	OMIM:618150;ORPHA:85172	49	6	1	0	7	43	HP:0000510;HP:0001999;HP:0002659;HP:0002910;HP:0003088;HP:0003467;HP:0011505	OMIM:618150;ORPHA:85172	49	6	1	0	7	43	HP:0000510;HP:0001999;HP:0002659;HP:0002910;HP:0003088;HP:0003467;HP:0011505
MONDO:0024540	Jervell and Lange-Nielsen syndrome 1	direct	11	OMIM:220400	8	4	0	0	7	4	HP:0001250;HP:0001662;HP:0001663;HP:0001891;HP:0011476;HP:0032448;HP:0500167	OMIM:220400	8	4	0	0	7	4	HP:0001250;HP:0001662;HP:0001663;HP:0001891;HP:0011476;HP:0032448;HP:0500167
MONDO:0030498	immunodeficiency 92	direct	13	OMIM:619652	22	5	0	1	7	17	HP:0001250;HP:0001363;HP:0002728;HP:0004429;HP:0005387;HP:0011274;HP:0031692	OMIM:619652	22	5	0	1	7	17	HP:0001250;HP:0001363;HP:0002728;HP:0004429;HP:0005387;HP:0011274;HP:0031692
MONDO:0030756	Stuve-Wiedemann syndrome 2	direct	12	OMIM:619751	20	3	2	0	7	17	HP:0000268;HP:0001373;HP:0002643;HP:0011849;HP:0012210;HP:0012332;HP:0032437	OMIM:619751	20	3	2	0	7	17	HP:0000268;HP:0001373;HP:0002643;HP:0011849;HP:0012210;HP:0012332;HP:0032437
MONDO:0032606	mitochondrial complex I deficiency, nuclear type 2	direct	16	OMIM:618222	31	8	1	0	7	23	HP:0000545;HP:0000590;HP:0001324;HP:0002376;HP:0002448;HP:0003128;HP:0012128	OMIM:618222	31	8	1	0	7	23	HP:0000545;HP:0000590;HP:0001324;HP:0002376;HP:0002448;HP:0003128;HP:0012128
MONDO:0032662	intellectual developmental disorder, autosomal recessive 67	direct	16	OMIM:618295	23	8	0	1	7	15	HP:0000202;HP:0000539;HP:0000708;HP:0001249;HP:0002352;HP:0007021;HP:0012719	OMIM:618295	23	8	0	1	7	15	HP:0000202;HP:0000539;HP:0000708;HP:0001249;HP:0002352;HP:0007021;HP:0012719
MONDO:0032772	brain abnormalities, neurodegeneration, and dysosteosclerosis	direct	22	OMIM:618476	52	12	0	3	7	40	HP:0001272;HP:0001290;HP:0001999;HP:0002015;HP:0002352;HP:0002376;HP:0002538	OMIM:618476	52	12	0	3	7	40	HP:0001272;HP:0001290;HP:0001999;HP:0002015;HP:0002352;HP:0002376;HP:0002538
MONDO:0032822	developmental and epileptic encephalopathy, 80	direct	16	OMIM:618580	47	7	2	0	7	40	HP:0001249;HP:0001344;HP:0001761;HP:0001992;HP:0002650;HP:0003429;HP:0200134	OMIM:618580	47	7	2	0	7	40	HP:0001249;HP:0001344;HP:0001761;HP:0001992;HP:0002650;HP:0003429;HP:0200134
MONDO:0032883	intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures	direct	19	OMIM:618725	16	8	1	3	7	8	HP:0000293;HP:0000337;HP:0000455;HP:0000463;HP:0001548;HP:0002360;HP:0200134	OMIM:618725	16	8	1	3	7	8	HP:0000293;HP:0000337;HP:0000455;HP:0000463;HP:0001548;HP:0002360;HP:0200134
MONDO:0033561	deeah syndrome	direct	19	OMIM:619004	66	5	4	3	7	61	HP:0001274;HP:0001627;HP:0001903;HP:0002104;HP:0002804;HP:0008707;HP:0012332	OMIM:619004	66	5	4	3	7	61	HP:0001274;HP:0001627;HP:0001903;HP:0002104;HP:0002804;HP:0008707;HP:0012332
MONDO:0044714	mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome	direct	19	OMIM:617675;ORPHA:502423	61	11	1	0	7	50	HP:0001250;HP:0001260;HP:0001272;HP:0001347;HP:0002015;HP:0002091;HP:0003560	OMIM:617675;ORPHA:502423	61	11	1	0	7	50	HP:0001250;HP:0001260;HP:0001272;HP:0001347;HP:0002015;HP:0002091;HP:0003560
MONDO:0060577	neurodevelopmental disorder with microcephaly, ataxia, and seizures	direct	16	OMIM:617709	11	9	0	0	7	2	HP:0000365;HP:0000750;HP:0001252;HP:0001258;HP:0001272;HP:0001638;HP:0002059	OMIM:617709	11	9	0	0	7	2	HP:0000365;HP:0000750;HP:0001252;HP:0001258;HP:0001272;HP:0001638;HP:0002059
MONDO:0060583	platelet abnormalities with eosinophilia and immune-mediated inflammatory disease	direct	15	OMIM:617718	25	4	2	2	7	21	HP:0000964;HP:0001369;HP:0001880;HP:0002099;HP:0003212;HP:0003261;HP:0500093	OMIM:617718	25	4	2	2	7	21	HP:0000964;HP:0001369;HP:0001880;HP:0002099;HP:0003212;HP:0003261;HP:0500093
MONDO:0060759	neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures	direct	23	OMIM:618088	29	13	2	1	7	16	HP:0000709;HP:0000729;HP:0000823;HP:0001300;HP:0001337;HP:0002579;HP:0011968	OMIM:618088	29	13	2	1	7	16	HP:0000709;HP:0000729;HP:0000823;HP:0001300;HP:0001337;HP:0002579;HP:0011968
MONDO:0100255	adenosine kinase deficiency	direct	15	OMIM:614300	34	4	1	3	7	30	HP:0000846;HP:0001297;HP:0001943;HP:0001972;HP:0004322;HP:0005116;HP:0012448	OMIM:614300	34	4	1	3	7	30	HP:0000846;HP:0001297;HP:0001943;HP:0001972;HP:0004322;HP:0005116;HP:0012448
MONDO:0700299	ACTH-independent macronodular adrenal hyperplasia 3	direct	10	OMIM:620990	4	2	0	1	7	2	HP:0000819;HP:0000822;HP:0000939;HP:0001579;HP:0001956;HP:0002664;HP:0012030	OMIM:620990	4	2	0	1	7	2	HP:0000819;HP:0000822;HP:0000939;HP:0001579;HP:0001956;HP:0002664;HP:0012030
MONDO:0800046	thyroid hormone metabolism, abnormal 1	direct	11	OMIM:609698;ORPHA:171706	22	3	0	1	7	19	HP:0000027;HP:0000407;HP:0000992;HP:0001250;HP:0001508;HP:0003560;HP:0011840	OMIM:609698;ORPHA:171706	22	3	0	1	7	19	HP:0000027;HP:0000407;HP:0000992;HP:0001250;HP:0001508;HP:0003560;HP:0011840
MONDO:0859573	bent bone dysplasia syndrome 2	direct	18	OMIM:620076	33	9	0	2	7	24	HP:0000347;HP:0000377;HP:0000520;HP:0001374;HP:0001561;HP:0002878;HP:0003042	OMIM:620076	33	9	0	2	7	24	HP:0000347;HP:0000377;HP:0000520;HP:0001374;HP:0001561;HP:0002878;HP:0003042
MONDO:0958183	Leber-like hereditary optic neuropathy, autosomal recessive 1	direct	8	OMIM:619382	9	1	0	0	7	8	HP:0000551;HP:0000576;HP:0000648;HP:0001251;HP:0001332;HP:0007146;HP:0012795	OMIM:619382	9	1	0	0	7	8	HP:0000551;HP:0000576;HP:0000648;HP:0001251;HP:0001332;HP:0007146;HP:0012795
MONDO:8000015	46,XY sex reversal 11	direct	16	OMIM:273250;ORPHA:983	23	5	4	0	7	18	HP:0000028;HP:0000047;HP:0000771;HP:0000815;HP:0000823;HP:0008730;HP:0100728	OMIM:273250;ORPHA:983	23	5	4	0	7	18	HP:0000028;HP:0000047;HP:0000771;HP:0000815;HP:0000823;HP:0008730;HP:0100728
MONDO:0002718	central nervous system teratoma	subtree_only	7									OMIM:273120	9	0	0	0	7	9	HP:0000238;HP:0000505;HP:0000826;HP:0000873;HP:0002013;HP:0002018;HP:0002315
MONDO:0006497	cerebral palsy	subtree_only	24									OMIM:605388;OMIM:612900;OMIM:617008;OMIM:619026	64	12	1	4	7	52	HP:0000365;HP:0000708;HP:0002301;HP:0002305;HP:0002360;HP:0002827;HP:0012531
MONDO:0006559	hidradenitis suppurativa	subtree_only	9									OMIM:142690;OMIM:613736;OMIM:613737	9	1	0	1	7	8	HP:0000716;HP:0012532;HP:0025084;HP:0033665;HP:0200036;HP:6000095;HP:6001119
MONDO:0008890	progressive bulbar palsy	subtree_only	8									OMIM:211500	8	1	0	0	7	7	HP:0001260;HP:0001308;HP:0001618;HP:0002193;HP:0002307;HP:0002366;HP:0012473
MONDO:0011827	patent ductus arteriosus	subtree_only	8									OMIM:169100;OMIM:607411;OMIM:617035;OMIM:617039;ORPHA:46627	40	1	0	0	7	39	HP:0002092;HP:0002098;HP:0006528;HP:0030148;HP:0030746;HP:0032555;HP:0500049
MONDO:0015262	brachyolmia	subtree_only	19									OMIM:113500;OMIM:271530;OMIM:271630;OMIM:613678;ORPHA:93302;ORPHA:93304	48	10	2	0	7	38	HP:0000327;HP:0000668;HP:0000705;HP:0001763;HP:0002647;HP:0003401;HP:0012727
MONDO:0016717	choroid plexus neoplasm	subtree_only	13									OMIM:260500;ORPHA:2807	16	5	1	0	7	11	HP:0000256;HP:0001251;HP:0001288;HP:0002516;HP:0012759;HP:0031910;HP:6000647
MONDO:0042982	GATA2 deficiency with susceptibility to MDS/AML	subtree_only	18									OMIM:614038;OMIM:614172;ORPHA:228423	57	9	0	2	7	48	HP:0000821;HP:0002092;HP:0004936;HP:0006517;HP:0012490;HP:0020114;HP:0045051
MONDO:0001734	tuberous sclerosis	direct	38	ORPHA:805	62	25	3	1	9	37	HP:0001699;HP:0005686;HP:0005948;HP:0006808;HP:0009722;HP:0009724;HP:0011675;HP:0031111;HP:0033328	OMIM:191100;OMIM:613254;ORPHA:805	86	27	3	2	6	59	HP:0001699;HP:0005686;HP:0005948;HP:0006808;HP:0031111;HP:0033328
MONDO:0007266	hypertrophic cardiomyopathy 2	direct	7	OMIM:115195	10	1	0	0	6	9	HP:0001635;HP:0001645;HP:0001685;HP:0001712;HP:0004308;HP:0025168	OMIM:115195	10	1	0	0	6	9	HP:0001635;HP:0001645;HP:0001685;HP:0001712;HP:0004308;HP:0025168
MONDO:0007395	craniofacial-deafness-hand syndrome	direct	19	OMIM:122880;ORPHA:1529	22	10	2	1	6	12	HP:0001643;HP:0002092;HP:0004035;HP:0004209;HP:0010940;HP:0012745	OMIM:122880;ORPHA:1529	22	10	2	1	6	12	HP:0001643;HP:0002092;HP:0004035;HP:0004209;HP:0010940;HP:0012745
MONDO:0007738	spondyloepiphyseal dysplasia with congenital joint dislocations	direct	29	OMIM:143095;ORPHA:263463	84	14	8	1	6	70	HP:0002656;HP:0003015;HP:0003088;HP:0003467;HP:0003864;HP:0004232	OMIM:143095;ORPHA:263463	84	14	8	1	6	70	HP:0002656;HP:0003015;HP:0003088;HP:0003467;HP:0003864;HP:0004232
MONDO:0007764	autosomal dominant osteosclerosis, Worth type	direct	11	OMIM:144750;ORPHA:2790	23	1	3	1	6	22	HP:0000458;HP:0001293;HP:0002315;HP:0002684;HP:0003034;HP:0007099	OMIM:144750;ORPHA:2790	23	1	3	1	6	22	HP:0000458;HP:0001293;HP:0002315;HP:0002684;HP:0003034;HP:0007099
MONDO:0007850	autosomal dominant keratitis-ichthyosis-hearing loss syndrome	direct	16	OMIM:148210	28	4	5	1	6	24	HP:0001596;HP:0002728;HP:0011496;HP:0030413;HP:0032107;HP:0040154	OMIM:148210	28	4	5	1	6	24	HP:0001596;HP:0002728;HP:0011496;HP:0030413;HP:0032107;HP:0040154
MONDO:0007974	intellectual disability, autosomal dominant 1	direct	23	OMIM:156200	81	13	2	2	6	68	HP:0000280;HP:0000752;HP:0001252;HP:0001627;HP:0002136;HP:0200055	OMIM:156200	81	13	2	2	6	68	HP:0000280;HP:0000752;HP:0001252;HP:0001627;HP:0002136;HP:0200055
MONDO:0008178	inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1	direct	10	OMIM:167320	35	3	0	1	6	32	HP:0001638;HP:0002015;HP:0002094;HP:0002460;HP:0002878;HP:0007354	OMIM:167320	35	3	0	1	6	32	HP:0001638;HP:0002015;HP:0002094;HP:0002460;HP:0002878;HP:0007354
MONDO:0008408	scapuloperoneal spinal muscular atrophy, autosomal dominant	direct	11	OMIM:181405	33	2	0	3	6	31	HP:0001605;HP:0002366;HP:0002804;HP:0003445;HP:0003484;HP:0009027	OMIM:181405	33	2	0	3	6	31	HP:0001605;HP:0002366;HP:0002804;HP:0003445;HP:0003484;HP:0009027
MONDO:0008411	ulnar-mammary syndrome	direct	20	OMIM:181450;ORPHA:3138	73	13	1	0	6	60	HP:0000015;HP:0000044;HP:0000456;HP:0000966;HP:0008240;HP:0010297	OMIM:181450;ORPHA:3138	73	13	1	0	6	60	HP:0000015;HP:0000044;HP:0000456;HP:0000966;HP:0008240;HP:0010297
MONDO:0008453	adult-onset proximal spinal muscular atrophy, autosomal dominant	direct	14	OMIM:182980;ORPHA:209335	27	5	1	2	6	22	HP:0001618;HP:0002019;HP:0002747;HP:0004926;HP:0007256;HP:0100595	OMIM:182980;ORPHA:209335	27	5	1	2	6	22	HP:0001618;HP:0002019;HP:0002747;HP:0004926;HP:0007256;HP:0100595
MONDO:0008867	biliary atresia	direct	12	ORPHA:30391	28	6	0	0	6	22	HP:0001409;HP:0001696;HP:0001748;HP:0002613;HP:0030151;HP:0040319	OMIM:210500;ORPHA:30391	36	6	0	0	6	30	HP:0001409;HP:0001696;HP:0001748;HP:0002613;HP:0030151;HP:0040319
MONDO:0008970	chondrodysplasia Blomstrand type	direct	14	OMIM:215045;ORPHA:50945	49	7	0	1	6	42	HP:0000278;HP:0002561;HP:0002810;HP:0010880;HP:0011079;HP:0100783	OMIM:215045;ORPHA:50945	49	7	0	1	6	42	HP:0000278;HP:0002561;HP:0002810;HP:0010880;HP:0011079;HP:0100783
MONDO:0008978	chordoma	direct	6	OMIM:215400	7	0	0	0	6	7	HP:0000020;HP:0000651;HP:0002196;HP:0002315;HP:0002607;HP:0003418	OMIM:215400	7	0	0	0	6	7	HP:0000020;HP:0000651;HP:0002196;HP:0002315;HP:0002607;HP:0003418
MONDO:0008980	ataxia-hypogonadism-choroidal dystrophy syndrome	direct	22	OMIM:215470;ORPHA:1180	36	15	0	1	6	21	HP:0000639;HP:0000830;HP:0003477;HP:0008240;HP:0008245;HP:0100543	OMIM:215470;ORPHA:1180	36	15	0	1	6	21	HP:0000639;HP:0000830;HP:0003477;HP:0008240;HP:0008245;HP:0100543
MONDO:0009032	cranioectodermal dysplasia	direct	18	ORPHA:1515	30	8	2	2	6	22	HP:0000090;HP:0000506;HP:0000556;HP:0000973;HP:0001395;HP:0100259	OMIM:218330;OMIM:613610;OMIM:614099;OMIM:614378;OMIM:617102;OMIM:621180;OMIM:621337;ORPHA:1515	268	18	0	0	0	250	
MONDO:0009061	cystic fibrosis	direct	25	OMIM:219700;ORPHA:586	56	16	1	2	6	40	HP:0000819;HP:0000823;HP:0002902;HP:0004322;HP:0008222;HP:0031245	OMIM:219700;ORPHA:2575;ORPHA:586	72	16	1	2	6	56	HP:0000819;HP:0000823;HP:0002902;HP:0004322;HP:0008222;HP:0031245
MONDO:0009194	immunodeficiency 32B	direct	12	OMIM:226990	24	3	2	1	6	21	HP:0002847;HP:0006517;HP:0012177;HP:0020087;HP:0020178;HP:0032183	OMIM:226990	24	3	2	1	6	21	HP:0002847;HP:0006517;HP:0012177;HP:0020087;HP:0020178;HP:0032183
MONDO:0009296	glycoprotein storage disease	direct	7	OMIM:232900	3	0	1	0	6	3	HP:0000280;HP:0000943;HP:0001249;HP:0001250;HP:0002180;HP:0010471	OMIM:232900	3	0	1	0	6	3	HP:0000280;HP:0000943;HP:0001249;HP:0001250;HP:0002180;HP:0010471
MONDO:0009452	Vici syndrome	direct	27	OMIM:242840;ORPHA:1493	90	16	4	1	6	74	HP:0000280;HP:0000821;HP:0001284;HP:0001903;HP:0002240;HP:0012448	OMIM:242840;ORPHA:1493	90	16	4	1	6	74	HP:0000280;HP:0000821;HP:0001284;HP:0001903;HP:0002240;HP:0012448
MONDO:0009532	Miller-Dieker lissencephaly syndrome	direct	16	OMIM:247200;ORPHA:531	61	6	1	3	6	55	HP:0000365;HP:0000505;HP:0001999;HP:0002019;HP:0002119;HP:0011968	OMIM:247200;ORPHA:531	61	6	1	3	6	55	HP:0000365;HP:0000505;HP:0001999;HP:0002019;HP:0002119;HP:0011968
MONDO:0009785	opsismodysplasia	direct	28	OMIM:258480;ORPHA:2746	67	22	0	0	6	45	HP:0000238;HP:0002983;HP:0004349;HP:0004912;HP:0006487;HP:0011800	OMIM:258480;ORPHA:2746	67	22	0	0	6	45	HP:0000238;HP:0002983;HP:0004349;HP:0004912;HP:0006487;HP:0011800
MONDO:0009804	osteogenesis imperfecta type 3	direct	17	OMIM:259420	27	10	0	1	6	17	HP:0000768;HP:0002091;HP:0002505;HP:0002653;HP:0002980;HP:0003510	OMIM:259420	27	10	0	1	6	17	HP:0000768;HP:0002091;HP:0002505;HP:0002653;HP:0002980;HP:0003510
MONDO:0009857	persistent Mullerian duct syndrome	direct	9	OMIM:261550;ORPHA:2856	8	3	0	0	6	5	HP:0000027;HP:0008734;HP:0010784;HP:0010788;HP:0034546;HP:6000460	OMIM:261550;ORPHA:2856	8	3	0	0	6	5	HP:0000027;HP:0008734;HP:0010784;HP:0010788;HP:0034546;HP:6000460
MONDO:0009992	myoglobinuria, acute recurrent, autosomal recessive	direct	13	OMIM:268200	14	6	0	1	6	8	HP:0001252;HP:0001695;HP:0002910;HP:0003546;HP:0005135;HP:0012240	OMIM:268200	14	6	0	1	6	8	HP:0001252;HP:0001695;HP:0002910;HP:0003546;HP:0005135;HP:0012240
MONDO:0010083	succinic semialdehyde dehydrogenase deficiency	direct	21	OMIM:271980;ORPHA:22	40	12	3	0	6	28	HP:0001332;HP:0002072;HP:0002360;HP:0007183;HP:0033258;HP:0100660	OMIM:271980;ORPHA:22	40	12	3	0	6	28	HP:0001332;HP:0002072;HP:0002360;HP:0007183;HP:0033258;HP:0100660
MONDO:0010161	tyrosinemia type I	direct	16	OMIM:276700;ORPHA:882	41	7	0	3	6	34	HP:0000969;HP:0001298;HP:0001395;HP:0002027;HP:0002878;HP:0100543	OMIM:276700;ORPHA:882	41	7	0	3	6	34	HP:0000969;HP:0001298;HP:0001395;HP:0002027;HP:0002878;HP:0100543
MONDO:0010286	syndromic X-linked intellectual disability Siderius type	direct	15	OMIM:300263;ORPHA:85287	26	9	0	0	6	17	HP:0000316;HP:0000324;HP:0000508;HP:0000729;HP:0001263;HP:0007018	OMIM:300263;ORPHA:85287	26	9	0	0	6	17	HP:0000316;HP:0000324;HP:0000508;HP:0000729;HP:0001263;HP:0007018
MONDO:0010355	syndromic X-linked intellectual disability Claes-Jensen type	direct	20	OMIM:300534;ORPHA:85279	68	13	0	1	6	55	HP:0000365;HP:0000998;HP:0001513;HP:0001999;HP:0002360;HP:0011024	OMIM:300534;ORPHA:85279	68	13	0	1	6	55	HP:0000365;HP:0000998;HP:0001513;HP:0001999;HP:0002360;HP:0011024
MONDO:0010383	fragile X syndrome	direct	34	OMIM:300624;ORPHA:908	47	27	0	1	6	20	HP:0000218;HP:0000405;HP:0000718;HP:0001513;HP:0002616;HP:0033721	OMIM:300624;ORPHA:908	47	27	0	1	6	20	HP:0000218;HP:0000405;HP:0000718;HP:0001513;HP:0002616;HP:0033721
MONDO:0010471	Cornelia de Lange syndrome 5	direct	20	OMIM:300882	53	10	2	2	6	43	HP:0000445;HP:0001332;HP:0001476;HP:0001511;HP:0001627;HP:0030820	OMIM:300882	53	10	2	2	6	43	HP:0000445;HP:0001332;HP:0001476;HP:0001511;HP:0001627;HP:0030820
MONDO:0010496	X-linked intellectual disability-short stature-overweight syndrome	direct	27	OMIM:300957;ORPHA:457240	57	13	2	6	6	44	HP:0001601;HP:0001627;HP:0002020;HP:0002205;HP:0002307;HP:0002804	OMIM:300957;ORPHA:457240	57	13	2	6	6	44	HP:0001601;HP:0001627;HP:0002020;HP:0002205;HP:0002307;HP:0002804
MONDO:0010581	diabetes insipidus, nephrogenic, X-linked	direct	17	OMIM:304800	19	9	0	2	6	10	HP:0000072;HP:0000126;HP:0003158;HP:0010677;HP:0012622;HP:0032465	OMIM:304800	19	9	0	2	6	10	HP:0000072;HP:0000126;HP:0003158;HP:0010677;HP:0012622;HP:0032465
MONDO:0011074	autosomal dominant nonsyndromic hearing loss 7	direct	6	OMIM:601412	2	0	0	0	6	2	HP:0000407;HP:0000408;HP:0001751;HP:0001757;HP:0008527;HP:0008596	OMIM:601412	2	0	0	0	6	2	HP:0000407;HP:0000408;HP:0001751;HP:0001757;HP:0008527;HP:0008596
MONDO:0011327	neuronal intranuclear inclusion disease	direct	14	OMIM:603472;ORPHA:2289	39	8	0	0	6	31	HP:0000011;HP:0001298;HP:0001300;HP:0002315;HP:0009830;HP:0012332	OMIM:603472;ORPHA:2289	39	8	0	0	6	31	HP:0000011;HP:0001298;HP:0001300;HP:0002315;HP:0009830;HP:0012332
MONDO:0011449	Salla disease	direct	15	OMIM:604369	18	9	0	0	6	9	HP:0000709;HP:0000718;HP:0001272;HP:0002079;HP:0002360;HP:0006808	OMIM:604369	18	9	0	0	6	9	HP:0000709;HP:0000718;HP:0001272;HP:0002079;HP:0002360;HP:0006808
MONDO:0011624	transaldolase deficiency	direct	29	OMIM:606003;ORPHA:101028	45	20	3	0	6	25	HP:0000093;HP:0000815;HP:0000938;HP:0001402;HP:0001928;HP:0002150	OMIM:606003;ORPHA:101028	45	20	3	0	6	25	HP:0000093;HP:0000815;HP:0000938;HP:0001402;HP:0001928;HP:0002150
MONDO:0011908	juvenile myelomonocytic leukemia	direct	6	OMIM:607785	3	0	0	0	6	3	HP:0001744;HP:0001873;HP:0001903;HP:0001974;HP:0002240;HP:0012311	OMIM:607785	3	0	0	0	6	3	HP:0001744;HP:0001873;HP:0001903;HP:0001974;HP:0002240;HP:0012311
MONDO:0012112	hypertrophic cardiomyopathy 10	direct	10	OMIM:608758	17	3	1	0	6	14	HP:0001635;HP:0004303;HP:0005110;HP:0025168;HP:0031318;HP:0032092	OMIM:608758	17	3	1	0	6	14	HP:0001635;HP:0004303;HP:0005110;HP:0025168;HP:0031318;HP:0032092
MONDO:0012746	dilated cardiomyopathy 2A	direct	8	OMIM:611880	7	2	0	0	6	5	HP:0001645;HP:0001653;HP:0002789;HP:0012664;HP:0025169;HP:4000141	OMIM:611880	7	2	0	0	6	5	HP:0001645;HP:0001653;HP:0002789;HP:0012664;HP:0025169;HP:4000141
MONDO:0012817	Ewing sarcoma	direct	7	OMIM:612219	2	0	0	1	6	2	HP:0001824;HP:0001903;HP:0001945;HP:0002653;HP:0002756;HP:0031459	OMIM:612219	2	0	0	1	6	2	HP:0001824;HP:0001903;HP:0001945;HP:0002653;HP:0002756;HP:0031459
MONDO:0012871	Jervell and Lange-Nielsen syndrome 2	direct	11	OMIM:612347	8	4	0	1	6	4	HP:0001662;HP:0001891;HP:0002194;HP:0004756;HP:0012266;HP:0500167	OMIM:612347	8	4	0	1	6	4	HP:0001662;HP:0001891;HP:0002194;HP:0004756;HP:0012266;HP:0500167
MONDO:0013014	spondyloepimetaphyseal dysplasia, aggrecan type	direct	18	OMIM:612813;ORPHA:171866	25	10	0	2	6	15	HP:0002758;HP:0002857;HP:0003182;HP:0003301;HP:0003510;HP:0005619	OMIM:612813;ORPHA:171866	25	10	0	2	6	15	HP:0002758;HP:0002857;HP:0003182;HP:0003301;HP:0003510;HP:0005619
MONDO:0013034	keratosis palmoplantaris striata 2	direct	10	OMIM:612908	7	2	0	2	6	5	HP:0001644;HP:0007501;HP:0011675;HP:0025114;HP:0031057;HP:0034702	OMIM:612908	7	2	0	2	6	5	HP:0001644;HP:0007501;HP:0011675;HP:0025114;HP:0031057;HP:0034702
MONDO:0013369	hypertrophic cardiomyopathy 7	direct	10	OMIM:613690	7	2	1	1	6	5	HP:0001635;HP:0001645;HP:0001685;HP:0025168;HP:0031333;HP:0032092	OMIM:613690	7	2	1	1	6	5	HP:0001635;HP:0001645;HP:0001685;HP:0025168;HP:0031333;HP:0032092
MONDO:0013930	peroxisome biogenesis disorder 4A (Zellweger)	direct	12	OMIM:614862	17	4	1	1	6	13	HP:0000348;HP:0000407;HP:0000518;HP:0001263;HP:0002269;HP:0002904	OMIM:614862	17	4	1	1	6	13	HP:0000348;HP:0000407;HP:0000518;HP:0001263;HP:0002269;HP:0002904
MONDO:0013934	combined immunodeficiency due to STK4 deficiency	direct	18	OMIM:614868	29	8	1	3	6	21	HP:0001433;HP:0003212;HP:0005353;HP:0005403;HP:0010702;HP:0010976	OMIM:614868	29	8	1	3	6	21	HP:0001433;HP:0003212;HP:0005353;HP:0005403;HP:0010702;HP:0010976
MONDO:0013998	MEGF8-related Carpenter syndrome	direct	18	OMIM:614976	75	9	0	3	6	66	HP:0000347;HP:0000476;HP:0001561;HP:0001790;HP:0010880;HP:0030853	OMIM:614976	75	9	0	3	6	66	HP:0000347;HP:0000476;HP:0001561;HP:0001790;HP:0010880;HP:0030853
MONDO:0014395	frontotemporal dementia and/or amyotrophic lateral sclerosis 2	direct	15	OMIM:615911	21	9	0	0	6	12	HP:0003200;HP:0003202;HP:0003546;HP:0003688;HP:0003689;HP:0003737	OMIM:615911	21	9	0	0	6	12	HP:0003200;HP:0003202;HP:0003546;HP:0003688;HP:0003689;HP:0003737
MONDO:0014542	congenital myasthenic syndrome 15	direct	8	OMIM:616227	10	2	0	0	6	8	HP:0001250;HP:0001252;HP:0002059;HP:0002188;HP:0002804;HP:0003325	OMIM:616227	10	2	0	0	6	8	HP:0001250;HP:0001252;HP:0002059;HP:0002188;HP:0002804;HP:0003325
MONDO:0014722	Roifman syndrome	direct	10	OMIM:616651;ORPHA:353298	54	1	0	3	6	53	HP:0000486;HP:0001873;HP:0001999;HP:0002960;HP:0012211;HP:0100651	OMIM:616651;ORPHA:353298	54	1	0	3	6	53	HP:0000486;HP:0001873;HP:0001999;HP:0002960;HP:0012211;HP:0100651
MONDO:0014773	cardiac anomalies - developmental delay - facial dysmorphism syndrome	direct	25	OMIM:616789;ORPHA:369891	78	14	2	3	6	64	HP:0000505;HP:0001250;HP:0002650;HP:0011024;HP:0011098;HP:0012443	OMIM:616789;ORPHA:369891	78	14	2	3	6	64	HP:0000505;HP:0001250;HP:0002650;HP:0011024;HP:0011098;HP:0012443
MONDO:0014831	progeroid and marfanoid aspect-lipodystrophy syndrome	direct	26	OMIM:616914	50	16	1	3	6	34	HP:0000621;HP:0001653;HP:0004325;HP:0004396;HP:0009059;HP:0040216	OMIM:616914	50	16	1	3	6	34	HP:0000621;HP:0001653;HP:0004325;HP:0004396;HP:0009059;HP:0040216
MONDO:0014963	Shashi-Pena syndrome	direct	17	OMIM:617190	46	8	1	2	6	38	HP:0000405;HP:0000486;HP:0000718;HP:0004313;HP:0005978;HP:0006292	OMIM:617190	46	8	1	2	6	38	HP:0000405;HP:0000486;HP:0000718;HP:0004313;HP:0005978;HP:0006292
MONDO:0015019	Yao syndrome	direct	18	OMIM:617321	21	12	0	0	6	9	HP:0002579;HP:0010741;HP:0011227;HP:0012332;HP:0012378;HP:0100540	OMIM:617321	21	12	0	0	6	9	HP:0002579;HP:0010741;HP:0011227;HP:0012332;HP:0012378;HP:0100540
MONDO:0016660	autosomal recessive primary microcephaly	direct	10	ORPHA:2512	17	2	1	1	6	15	HP:0000708;HP:0000750;HP:0001250;HP:0001251;HP:0001257;HP:0009879	OMIM:251200;OMIM:604317;OMIM:604321;OMIM:604804;OMIM:608393;OMIM:608716;OMIM:612703;OMIM:613676;OMIM:614673;OMIM:614852;OMIM:615095;OMIM:615414;OMIM:616051;OMIM:616080;OMIM:616402;OMIM:616486;OMIM:616681;OMIM:617090;OMIM:617800;OMIM:617914;OMIM:617983;OMIM:617984;OMIM:617985;OMIM:618179;OMIM:618351;OMIM:619453;OMIM:620047;OMIM:620183;OMIM:621507;ORPHA:2512;ORPHA:329228	216	9	0	1	0	207	
MONDO:0016698	ependymoma	direct	12	ORPHA:251636	15	3	1	2	6	12	HP:0000020;HP:0000238;HP:0000256;HP:0001085;HP:0001251;HP:0031910	ORPHA:251636;ORPHA:251639	15	3	1	2	6	12	HP:0000020;HP:0000238;HP:0000256;HP:0001085;HP:0001251;HP:0031910
MONDO:0018105	Wolfram syndrome	direct	29	ORPHA:3463	39	10	3	5	11	29	HP:0000029;HP:0000518;HP:0000716;HP:0000739;HP:0001265;HP:0001336;HP:0001337;HP:0002015;HP:0002495;HP:0002579;HP:0004408	OMIM:222300;OMIM:598500;OMIM:604928;ORPHA:3463	72	20	1	2	6	52	HP:0000739;HP:0001265;HP:0001336;HP:0002495;HP:0002579;HP:0004408
MONDO:0018922	cold agglutinin disease	direct	8	ORPHA:56425	14	2	0	0	6	12	HP:0000952;HP:0001063;HP:0003641;HP:0004936;HP:0030880;HP:0033505	ORPHA:56425	14	2	0	0	6	12	HP:0000952;HP:0001063;HP:0003641;HP:0004936;HP:0030880;HP:0033505
MONDO:0019018	Tako-tsubo cardiomyopathy	direct	19	ORPHA:66529	33	8	3	2	6	25	HP:0000739;HP:0001297;HP:0012667;HP:0032092;HP:0040412;HP:0410173	ORPHA:66529	33	8	3	2	6	25	HP:0000739;HP:0001297;HP:0012667;HP:0032092;HP:0040412;HP:0410173
MONDO:0019125	relapsing polychondritis	direct	15	ORPHA:728	53	7	0	2	6	46	HP:0000939;HP:0001659;HP:0002647;HP:0005280;HP:0033434;HP:6001461	ORPHA:728	53	7	0	2	6	46	HP:0000939;HP:0001659;HP:0002647;HP:0005280;HP:0033434;HP:6001461
MONDO:0019173	rabies	direct	12	ORPHA:770	19	3	1	2	6	16	HP:0000713;HP:0001336;HP:0002015;HP:0012332;HP:0032505;HP:0033993	ORPHA:770	19	3	1	2	6	16	HP:0000713;HP:0001336;HP:0002015;HP:0012332;HP:0032505;HP:0033993
MONDO:0019439	AA amyloidosis	direct	14	ORPHA:85445	32	6	1	1	6	26	HP:0000969;HP:0001824;HP:0002239;HP:0003073;HP:0003155;HP:0011227	ORPHA:85445	32	6	1	1	6	26	HP:0000969;HP:0001824;HP:0002239;HP:0003073;HP:0003155;HP:0011227
MONDO:0020737	optic atrophy 10 with or without ataxia, intellectual disability, and seizures	direct	10	OMIM:616732	13	2	0	2	6	11	HP:0000365;HP:0000510;HP:0000648;HP:0001263;HP:0001510;HP:0100660	OMIM:616732	13	2	0	2	6	11	HP:0000365;HP:0000510;HP:0000648;HP:0001263;HP:0001510;HP:0100660
MONDO:0025708	megacystis-microcolon-intestinal hypoperistalsis syndrome 2	direct	8	OMIM:619351	23	2	0	0	6	21	HP:0000110;HP:0000126;HP:0004389;HP:0004794;HP:0010318;HP:0012074	OMIM:619351	23	2	0	0	6	21	HP:0000110;HP:0000126;HP:0004389;HP:0004794;HP:0010318;HP:0012074
MONDO:0030009	alopecia-intellectual disability syndrome 4	direct	15	OMIM:618840	17	5	2	2	6	12	HP:0000653;HP:0001263;HP:0001290;HP:0002120;HP:0006956;HP:0045075	OMIM:618840	17	5	2	2	6	12	HP:0000653;HP:0001263;HP:0001290;HP:0002120;HP:0006956;HP:0045075
MONDO:0030065	agenesis of corpus callosum, cardiac, ocular, and genital syndrome	direct	27	OMIM:618929	50	19	1	1	6	31	HP:0001629;HP:0001999;HP:0004383;HP:0004890;HP:0007068;HP:0012210	OMIM:618929	50	19	1	1	6	31	HP:0001629;HP:0001999;HP:0004383;HP:0004890;HP:0007068;HP:0012210
MONDO:0030302	immunodeficiency 81	direct	16	OMIM:619374	16	4	2	4	6	12	HP:0001508;HP:0002583;HP:0002720;HP:0012191;HP:0031381;HP:0033222	OMIM:619374	16	4	2	4	6	12	HP:0001508;HP:0002583;HP:0002720;HP:0012191;HP:0031381;HP:0033222
MONDO:0030346	ciliary dyskinesia, primary, 47, and lissencephaly	direct	12	OMIM:619466	12	4	1	1	6	8	HP:0001249;HP:0001263;HP:0002119;HP:0002643;HP:0008936;HP:0012265	OMIM:619466	12	4	1	1	6	8	HP:0001249;HP:0001263;HP:0002119;HP:0002643;HP:0008936;HP:0012265
MONDO:0030908	intellectual disability, X-linked, syndromic, 35	direct	26	OMIM:300998	67	16	2	2	6	51	HP:0000076;HP:0000546;HP:0000577;HP:0000717;HP:0001634;HP:0001999	OMIM:300998	67	16	2	2	6	51	HP:0000076;HP:0000546;HP:0000577;HP:0000717;HP:0001634;HP:0001999
MONDO:0031006	neurodegeneration with ataxia and late-onset optic atrophy	direct	14	OMIM:619259	31	7	0	1	6	24	HP:0000708;HP:0001249;HP:0001263;HP:0001271;HP:0003198;HP:0008314	OMIM:619259	31	7	0	1	6	24	HP:0000708;HP:0001249;HP:0001263;HP:0001271;HP:0003198;HP:0008314
MONDO:0032624	mitochondrial complex I deficiency, nuclear type 19	direct	14	OMIM:618241	28	7	0	1	6	21	HP:0002059;HP:0002092;HP:0002134;HP:0002376;HP:0031865;HP:0040197	OMIM:618241	28	7	0	1	6	21	HP:0002059;HP:0002092;HP:0002134;HP:0002376;HP:0031865;HP:0040197
MONDO:0032627	mitochondrial complex I deficiency, nuclear type 23	direct	9	OMIM:618244	15	2	1	0	6	13	HP:0000648;HP:0001250;HP:0001257;HP:0001260;HP:0012751;HP:0033044	OMIM:618244	15	2	1	0	6	13	HP:0000648;HP:0001250;HP:0001257;HP:0001260;HP:0012751;HP:0033044
MONDO:0032679	combined oxidative phosphorylation deficiency 37	direct	13	OMIM:618329	40	5	1	1	6	35	HP:0000787;HP:0001298;HP:0001396;HP:0001714;HP:0002361;HP:0008972	OMIM:618329	40	5	1	1	6	35	HP:0000787;HP:0001298;HP:0001396;HP:0001714;HP:0002361;HP:0008972
MONDO:0032858	developmental and epileptic encephalopathy, 81	direct	12	OMIM:618663	19	2	1	3	6	17	HP:0001999;HP:0002059;HP:0002352;HP:0006808;HP:0033725;HP:0200134	OMIM:618663	19	2	1	3	6	17	HP:0001999;HP:0002059;HP:0002352;HP:0006808;HP:0033725;HP:0200134
MONDO:0032923	spinocerebellar ataxia, autosomal recessive 28	direct	10	OMIM:618800	15	2	0	2	6	13	HP:0000252;HP:0000347;HP:0001263;HP:0001272;HP:0012736;HP:0200134	OMIM:618800	15	2	0	2	6	13	HP:0000252;HP:0000347;HP:0001263;HP:0001272;HP:0012736;HP:0200134
MONDO:0033363	developmental and epileptic encephalopathy, 54	direct	13	OMIM:617391	19	6	0	1	6	13	HP:0000486;HP:0000729;HP:0001999;HP:0002104;HP:0011968;HP:0033725	OMIM:617391	19	6	0	1	6	13	HP:0000486;HP:0000729;HP:0001999;HP:0002104;HP:0011968;HP:0033725
MONDO:0033364	developmental and epileptic encephalopathy, 55	direct	11	OMIM:617599	25	1	3	1	6	24	HP:0001290;HP:0002059;HP:0002119;HP:0002510;HP:0010851;HP:0100660	OMIM:617599	25	1	3	1	6	24	HP:0001290;HP:0002059;HP:0002119;HP:0002510;HP:0010851;HP:0100660
MONDO:0033566	combined oxidative phosphorylation deficiency 48	direct	15	OMIM:619012	17	7	2	0	6	10	HP:0000407;HP:0000518;HP:0000648;HP:0001639;HP:0007141;HP:0007663	OMIM:619012	17	7	2	0	6	10	HP:0000407;HP:0000518;HP:0000648;HP:0001639;HP:0007141;HP:0007663
MONDO:0033652	mitochondrial complex IV deficiency, nuclear type 17	direct	11	OMIM:619061	13	4	0	1	6	9	HP:0000365;HP:0000508;HP:0000510;HP:0000869;HP:0003200;HP:0003546	OMIM:619061	13	4	0	1	6	9	HP:0000365;HP:0000508;HP:0000510;HP:0000869;HP:0003200;HP:0003546
MONDO:0054741	combined oxidative phosphorylation deficiency 34	direct	9	OMIM:617872	19	2	0	1	6	17	HP:0000083;HP:0000872;HP:0008209;HP:0008347;HP:0011923;HP:0011924	OMIM:617872	19	2	0	1	6	17	HP:0000083;HP:0000872;HP:0008209;HP:0008347;HP:0011923;HP:0011924
MONDO:0060611	combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia	direct	12	OMIM:617780	25	5	0	1	6	20	HP:0000488;HP:0001263;HP:0001395;HP:0001508;HP:0001942;HP:0005575	OMIM:617780	25	5	0	1	6	20	HP:0000488;HP:0001263;HP:0001395;HP:0001508;HP:0001942;HP:0005575
MONDO:0859146	growth restriction, hypoplastic kidneys, alopecia, and distinctive facies	direct	13	OMIM:619321	33	5	0	2	6	28	HP:0000083;HP:0001409;HP:0001999;HP:0002040;HP:0008527;HP:0011014	OMIM:619321	33	5	0	2	6	28	HP:0000083;HP:0001409;HP:0001999;HP:0002040;HP:0008527;HP:0011014
MONDO:0859220	Ferguson-Bonni neurodevelopmental syndrome	direct	15	OMIM:619699	17	9	0	0	6	8	HP:0000175;HP:0000201;HP:0000252;HP:0001249;HP:0001999;HP:0004322	OMIM:619699	17	9	0	0	6	8	HP:0000175;HP:0000201;HP:0000252;HP:0001249;HP:0001999;HP:0004322
MONDO:0859241	neurodegeneration, childhood-onset, with progressive microcephaly	direct	18	OMIM:619847	44	10	2	0	6	34	HP:0001272;HP:0001508;HP:0002529;HP:0002910;HP:0004840;HP:0012697	OMIM:619847	44	10	2	0	6	34	HP:0001272;HP:0001508;HP:0002529;HP:0002910;HP:0004840;HP:0012697
MONDO:0859282	neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures	direct	21	OMIM:620023	28	13	0	2	6	15	HP:0001249;HP:0001250;HP:0001252;HP:0002071;HP:0002376;HP:0007703	OMIM:620023	28	13	0	2	6	15	HP:0001249;HP:0001250;HP:0001252;HP:0002071;HP:0002376;HP:0007703
MONDO:0859296	neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss	direct	20	OMIM:620071	23	12	0	2	6	11	HP:0001263;HP:0001396;HP:0001999;HP:0002119;HP:0002910;HP:0012704	OMIM:620071	23	12	0	2	6	11	HP:0001263;HP:0001396;HP:0001999;HP:0002119;HP:0002910;HP:0012704
MONDO:0859340	spinocerebellar ataxia 27B, late-onset	direct	13	OMIM:620174	11	6	0	1	6	5	HP:0001347;HP:0001756;HP:0002131;HP:0010871;HP:0012332;HP:0034773	OMIM:620174	11	6	0	1	6	5	HP:0001347;HP:0001756;HP:0002131;HP:0010871;HP:0012332;HP:0034773
MONDO:0970998	auroneurodental syndrome	direct	33	OMIM:620830	29	26	1	0	6	3	HP:0000343;HP:0000414;HP:0001780;HP:0002013;HP:0006673;HP:0012398	OMIM:620830	29	26	1	0	6	3	HP:0000343;HP:0000414;HP:0001780;HP:0002013;HP:0006673;HP:0012398
MONDO:0971007	neuroocular syndrome 1	direct	27	OMIM:619539	75	14	1	6	6	61	HP:0000077;HP:0000528;HP:0000587;HP:0001290;HP:0001999;HP:0002650	OMIM:619539	75	14	1	6	6	61	HP:0000077;HP:0000528;HP:0000587;HP:0001290;HP:0001999;HP:0002650
MONDO:0971043	neurodevelopmental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities	direct	28	OMIM:620852	67	15	3	4	6	52	HP:0000268;HP:0000648;HP:0001511;HP:0001999;HP:0002015;HP:0002719	OMIM:620852	67	15	3	4	6	52	HP:0000268;HP:0000648;HP:0001511;HP:0001999;HP:0002015;HP:0002719
MONDO:0002070	ventricular septal defect	subtree_only	11									OMIM:614429;OMIM:614431;OMIM:614432;ORPHA:3426	35	5	0	0	6	30	HP:0001635;HP:0001640;HP:0001901;HP:0002092;HP:0002205;HP:0002240
MONDO:0003000	central nervous system germ cell tumor	subtree_only	6									OMIM:273120	9	0	0	0	6	9	HP:0000238;HP:0000505;HP:0000826;HP:0000863;HP:0006254;HP:6000485
MONDO:0004656	rubella	subtree_only	15									ORPHA:290	31	5	3	1	6	26	HP:0000979;HP:0001945;HP:0001978;HP:0002716;HP:0002829;HP:0033993
MONDO:0004910	mitral valve prolapse	subtree_only	8									OMIM:157700;OMIM:607829;OMIM:610840	10	2	0	0	6	8	HP:0001279;HP:0001635;HP:0001645;HP:0001685;HP:0004308;HP:0006682
MONDO:0005083	psoriasis	subtree_only	16									OMIM:602723;OMIM:614204;ORPHA:247353	46	10	0	0	6	36	HP:0000716;HP:0000989;HP:0031090;HP:0100686;HP:6000724;HP:6000933
MONDO:0005350	abdominal aortic aneurysm	subtree_only	7									OMIM:100070	4	1	0	0	6	3	HP:0001279;HP:0002027;HP:0002615;HP:0003418;HP:0031649;HP:6001311
MONDO:0005376	membranous glomerulonephritis	subtree_only	6									ORPHA:97560	1	0	0	0	6	1	HP:0000083;HP:0000093;HP:0000100;HP:0000969;HP:0003073;HP:0003077
MONDO:0005989	toxoplasmosis	subtree_only	12									ORPHA:858	26	6	0	0	6	20	HP:0001249;HP:0001269;HP:0001945;HP:0002315;HP:0002383;HP:0012424
MONDO:0013209	metabolic dysfunction-associated steatotic liver disease	subtree_only	7									OMIM:613282	2	1	0	0	6	1	HP:0000855;HP:0001394;HP:0001395;HP:0001402;HP:0001513;HP:0031964
MONDO:0017329	familial vesicoureteral reflux	subtree_only	16									OMIM:193000;OMIM:314550;OMIM:610878;OMIM:613674;OMIM:615963	17	4	4	2	6	13	HP:0000110;HP:0000112;HP:0000822;HP:0002048;HP:0003774;HP:0012622
MONDO:0018905	diffuse large B-cell lymphoma	subtree_only	7									ORPHA:48686	8	1	0	0	6	7	HP:0001744;HP:0001824;HP:0001903;HP:0002716;HP:0012378;HP:0030166
MONDO:0100162	IKBKG-related immunodeficiency with or without ectodermal dysplasia	subtree_only	16									OMIM:300291;OMIM:300636	64	6	1	3	6	58	HP:0001250;HP:0001508;HP:0002583;HP:0007400;HP:0008046;HP:0008404
MONDO:0800484	PRKAG2-related cardiomyopathy	subtree_only	15									OMIM:194200;OMIM:261740;OMIM:600858	56	8	0	1	6	48	HP:0000718;HP:0000739;HP:0001249;HP:0001712;HP:0002167;HP:0004755
MONDO:0000200	Zimmermann-Laband syndrome	direct	48	ORPHA:3473	43	43	0	0	5	0	HP:0000280;HP:0000684;HP:0001263;HP:0009881;HP:0009882	OMIM:135500;OMIM:616455;OMIM:618658;ORPHA:3473	109	48	0	0	0	61	
MONDO:0001999	idiopathic pulmonary arterial hypertension	direct	10	ORPHA:275766	16	4	1	0	5	12	HP:0001708;HP:0003546;HP:0012378;HP:0012398;HP:0045051	ORPHA:275766	16	4	1	0	5	12	HP:0001708;HP:0003546;HP:0012378;HP:0012398;HP:0045051
MONDO:0005028	esophageal adenocarcinoma	direct	6	ORPHA:99976	10	1	0	0	5	9	HP:0001824;HP:0001903;HP:0002015;HP:0002239;HP:0032043	ORPHA:99976	10	1	0	0	5	9	HP:0001824;HP:0001903;HP:0002015;HP:0002239;HP:0032043
MONDO:0007147	obstructive sleep apnea syndrome	direct	8	OMIM:107650	6	2	0	1	5	4	HP:0000017;HP:0000822;HP:0001097;HP:0002315;HP:0100543	OMIM:107650	6	2	0	1	5	4	HP:0000017;HP:0000822;HP:0001097;HP:0002315;HP:0100543
MONDO:0007160	Stickler syndrome type 1	direct	28	OMIM:108300;ORPHA:90653	50	19	2	2	5	31	HP:0000162;HP:0000389;HP:0000768;HP:0001252;HP:0007992	OMIM:108300;OMIM:609508;ORPHA:90653	53	20	2	1	5	33	HP:0000162;HP:0000389;HP:0000768;HP:0001252;HP:0007992
MONDO:0007167	atelosteogenesis type I	direct	20	OMIM:108720;ORPHA:1190	70	14	0	1	5	56	HP:0000494;HP:0000767;HP:0002779;HP:0011220;HP:0011304	OMIM:108720;ORPHA:1190	70	14	0	1	5	56	HP:0000494;HP:0000767;HP:0002779;HP:0011220;HP:0011304
MONDO:0007269	dilated cardiomyopathy 1A	direct	15	OMIM:115200;ORPHA:300751	24	6	4	0	5	18	HP:0001907;HP:0003701;HP:0004756;HP:0034392;HP:0040412	OMIM:115200;ORPHA:300751	24	6	4	0	5	18	HP:0001907;HP:0003701;HP:0004756;HP:0034392;HP:0040412
MONDO:0007318	Alagille syndrome	direct	31	ORPHA:52	43	20	1	2	8	23	HP:0000627;HP:0000989;HP:0000991;HP:0001409;HP:0001636;HP:0001744;HP:0001920;HP:0007661	OMIM:118450;OMIM:610205;ORPHA:52	96	23	1	2	5	73	HP:0000989;HP:0000991;HP:0001409;HP:0001744;HP:0007661
MONDO:0007404	Cri-du-chat syndrome	direct	34	OMIM:123450;ORPHA:281	82	24	2	3	5	58	HP:0001272;HP:0001273;HP:0001320;HP:0001508;HP:0012110	OMIM:123450;ORPHA:281	82	24	2	3	5	58	HP:0001272;HP:0001273;HP:0001320;HP:0001508;HP:0012110
MONDO:0007416	Balkan nephropathy	direct	5	OMIM:124100	1	0	0	0	5	1	HP:0001903;HP:0003126;HP:0003774;HP:0012622;HP:0030409	OMIM:124100	1	0	0	0	5	1	HP:0001903;HP:0003126;HP:0003774;HP:0012622;HP:0030409
MONDO:0007450	neurohypophyseal diabetes insipidus	direct	7	OMIM:125700;ORPHA:30925	18	2	0	0	5	16	HP:0000017;HP:0000103;HP:0001531;HP:0003158;HP:0004906	OMIM:125700;ORPHA:30925	18	2	0	0	5	16	HP:0000017;HP:0000103;HP:0001531;HP:0003158;HP:0004906
MONDO:0007470	calvarial doughnut lesions-bone fragility syndrome	direct	11	OMIM:126550	13	4	0	2	5	9	HP:0000501;HP:0002657;HP:0002953;HP:0004493;HP:0010628	OMIM:126550	13	4	0	2	5	9	HP:0000501;HP:0002657;HP:0002953;HP:0004493;HP:0010628
MONDO:0007688	Myhre syndrome	direct	26	OMIM:139210;ORPHA:2588	118	18	2	1	5	100	HP:0001723;HP:0002092;HP:0002202;HP:0002650;HP:0004313	OMIM:139210;ORPHA:2588	118	18	2	1	5	100	HP:0001723;HP:0002092;HP:0002202;HP:0002650;HP:0004313
MONDO:0007739	Huntington disease	direct	43	OMIM:143100;ORPHA:399	59	34	0	4	5	25	HP:0001257;HP:0001300;HP:0002019;HP:0002376;HP:0002795	OMIM:143100;ORPHA:248111;ORPHA:399	69	36	0	2	5	33	HP:0001257;HP:0001300;HP:0002019;HP:0002376;HP:0002795
MONDO:0007751	hypercholesterolemia, autosomal dominant, type B	direct	10	OMIM:144010	6	4	1	0	5	2	HP:0001658;HP:0001681;HP:0001717;HP:0010874;HP:0100546	OMIM:144010	6	4	1	0	5	2	HP:0001658;HP:0001681;HP:0001717;HP:0010874;HP:0100546
MONDO:0007955	Meckel diverticulum	direct	5	OMIM:155140	2	0	0	0	5	2	HP:0002239;HP:0002576;HP:0004386;HP:0005214;HP:0031368	OMIM:155140	2	0	0	0	5	2	HP:0002239;HP:0002576;HP:0004386;HP:0005214;HP:0031368
MONDO:0008133	optic atrophy 3	direct	11	OMIM:165300;ORPHA:67036	41	4	1	1	5	37	HP:0001733;HP:0002579;HP:0003477;HP:0009125;HP:0012332	OMIM:165300;ORPHA:67036	41	4	1	1	5	37	HP:0001733;HP:0002579;HP:0003477;HP:0009125;HP:0012332
MONDO:0008150	osteoglophonic dysplasia	direct	25	OMIM:166250;ORPHA:2645	71	16	4	0	5	55	HP:0000212;HP:0000944;HP:0001845;HP:0002148;HP:0002656	OMIM:166250;ORPHA:2645	71	16	4	0	5	55	HP:0000212;HP:0000944;HP:0001845;HP:0002148;HP:0002656
MONDO:0008157	Buschke-Ollendorff syndrome	direct	10	OMIM:166700	13	3	1	1	5	10	HP:0002829;HP:0003416;HP:0004322;HP:0025164;HP:0025507	OMIM:166700	13	3	1	1	5	10	HP:0002829;HP:0003416;HP:0004322;HP:0025164;HP:0025507
MONDO:0008318	Proteus syndrome	direct	25	OMIM:176920;ORPHA:744	136	15	4	1	5	121	HP:0000505;HP:0000639;HP:0002206;HP:0012426;HP:0012531	OMIM:176920;ORPHA:744	136	15	4	1	5	121	HP:0000505;HP:0000639;HP:0002206;HP:0012426;HP:0012531
MONDO:0008840	ataxia telangiectasia	direct	18	OMIM:208900;ORPHA:100	75	8	4	1	5	67	HP:0001272;HP:0002015;HP:0002071;HP:0003477;HP:0011133	OMIM:208900;ORPHA:100	75	8	4	1	5	67	HP:0001272;HP:0002015;HP:0002071;HP:0003477;HP:0011133
MONDO:0008935	cerebellar ataxia-hypogonadism syndrome	direct	23	OMIM:212840;ORPHA:1173	33	18	0	0	5	15	HP:0000823;HP:0001135;HP:0001347;HP:0002500;HP:0003477	OMIM:212840;ORPHA:1173	33	18	0	0	5	15	HP:0000823;HP:0001135;HP:0001347;HP:0002500;HP:0003477
MONDO:0009107	diastrophic dysplasia	direct	22	OMIM:222600;ORPHA:628	83	16	1	0	5	67	HP:0000193;HP:0001840;HP:0002786;HP:0003088;HP:0010292	OMIM:222600;ORPHA:628	83	16	1	0	5	67	HP:0000193;HP:0001840;HP:0002786;HP:0003088;HP:0010292
MONDO:0009231	acromesomelic dysplasia 2B	direct	7	OMIM:228900;ORPHA:2639	30	2	0	0	5	28	HP:0001159;HP:0001831;HP:0009843;HP:0012385;HP:0100259	OMIM:228900;ORPHA:2639	30	2	0	0	5	28	HP:0001159;HP:0001831;HP:0009843;HP:0012385;HP:0100259
MONDO:0009261	GM1 gangliosidosis type 2	direct	12	OMIM:230600	36	4	0	3	5	32	HP:0000486;HP:0001260;HP:0001324;HP:0001638;HP:0007957	OMIM:230600	36	4	0	3	5	32	HP:0000486;HP:0001260;HP:0001324;HP:0001638;HP:0007957
MONDO:0009370	L-2-hydroxyglutaric aciduria	direct	15	OMIM:236792;ORPHA:79314	30	6	3	1	5	24	HP:0001260;HP:0001263;HP:0001332;HP:0002072;HP:0002080	OMIM:236792;ORPHA:79314	30	6	3	1	5	24	HP:0001260;HP:0001263;HP:0001332;HP:0002072;HP:0002080
MONDO:0009530	lipoid proteinosis	direct	13	OMIM:247100;ORPHA:530	40	6	1	1	5	34	HP:0002170;HP:0012718;HP:0025748;HP:0034414;HP:0100852	OMIM:247100;ORPHA:530	40	6	1	1	5	34	HP:0002170;HP:0012718;HP:0025748;HP:0034414;HP:0100852
MONDO:0009666	holocarboxylase synthetase deficiency	direct	19	OMIM:253270;ORPHA:79242	34	13	0	1	5	21	HP:0001943;HP:0001993;HP:0002014;HP:0003074;HP:0008064	OMIM:253270;ORPHA:79242	34	13	0	1	5	21	HP:0001943;HP:0001993;HP:0002014;HP:0003074;HP:0008064
MONDO:0009892	Chuvash polycythemia	direct	15	OMIM:263400	19	9	1	0	5	10	HP:0001744;HP:0003546;HP:0004420;HP:0004936;HP:0012343	OMIM:263400	19	9	1	0	5	10	HP:0001744;HP:0003546;HP:0004420;HP:0004936;HP:0012343
MONDO:0009919	peroxisomal acyl-CoA oxidase deficiency	direct	13	OMIM:264470;ORPHA:2971	54	6	1	1	5	48	HP:0000505;HP:0000846;HP:0001410;HP:0001999;HP:0009830	OMIM:264470;ORPHA:2971	54	6	1	1	5	48	HP:0000505;HP:0000846;HP:0001410;HP:0001999;HP:0009830
MONDO:0009990	Revesz syndrome	direct	15	OMIM:268130;ORPHA:3088	38	10	0	0	5	28	HP:0000501;HP:0002170;HP:0002878;HP:0007427;HP:0030490	OMIM:268130;ORPHA:3088	38	10	0	0	5	28	HP:0000501;HP:0002170;HP:0002878;HP:0007427;HP:0030490
MONDO:0010235	X-linked intellectual disability-psychosis-macroorchidism syndrome	direct	18	OMIM:300055;ORPHA:3077	71	9	3	1	5	62	HP:0001260;HP:0001999;HP:0008944;HP:0034332;HP:0100543	OMIM:300055;ORPHA:3077	71	9	3	1	5	62	HP:0001260;HP:0001999;HP:0008944;HP:0034332;HP:0100543
MONDO:0010318	FG syndrome 4	direct	8	OMIM:300422	11	2	0	1	5	9	HP:0000648;HP:0000708;HP:0002020;HP:0002579;HP:0006934	OMIM:300422	11	2	0	1	5	9	HP:0000648;HP:0000708;HP:0002020;HP:0002579;HP:0006934
MONDO:0010402	syndromic X-linked intellectual disability 94	direct	27	OMIM:300699;ORPHA:364028	69	15	5	2	5	54	HP:0000709;HP:0001251;HP:0002267;HP:0002827;HP:0012389	OMIM:300699;ORPHA:364028	69	15	5	2	5	54	HP:0000709;HP:0001251;HP:0002267;HP:0002827;HP:0012389
MONDO:0010532	infantile-onset X-linked spinal muscular atrophy	direct	16	OMIM:301830;ORPHA:1145	58	8	1	2	5	50	HP:0000763;HP:0001317;HP:0002019;HP:0002020;HP:0002659	OMIM:301830;ORPHA:1145	58	8	1	2	5	50	HP:0000763;HP:0001317;HP:0002019;HP:0002020;HP:0002659
MONDO:0010542	dilated cardiomyopathy 3B	direct	6	OMIM:302045	6	1	0	0	5	5	HP:0001635;HP:0001645;HP:0003236;HP:0004308;HP:0012664	OMIM:302045	6	1	0	0	5	5	HP:0001635;HP:0001645;HP:0003236;HP:0004308;HP:0012664
MONDO:0010651	Menkes disease	direct	13	OMIM:309400;ORPHA:565	71	5	2	1	5	66	HP:0001508;HP:0002059;HP:0003777;HP:0005116;HP:0012758	OMIM:309400;ORPHA:565	71	5	2	1	5	66	HP:0001508;HP:0002059;HP:0003777;HP:0005116;HP:0012758
MONDO:0010808	fatal familial insomnia	direct	19	OMIM:600072;ORPHA:466	39	9	3	2	5	30	HP:0001257;HP:0002069;HP:0031064;HP:0032044;HP:5200291	OMIM:600072;ORPHA:466	39	9	3	2	5	30	HP:0001257;HP:0002069;HP:0031064;HP:0032044;HP:5200291
MONDO:0010958	cardiac arrhythmia, ankyrin-B-related	direct	10	OMIM:600919	6	5	0	0	5	1	HP:0001638;HP:0001663;HP:0001664;HP:0004756;HP:0011704	OMIM:600919	6	5	0	0	5	1	HP:0001638;HP:0001663;HP:0001664;HP:0004756;HP:0011704
MONDO:0011014	pleuropulmonary blastoma	direct	5	OMIM:601200	4	0	0	0	5	4	HP:0002094;HP:0002098;HP:0002107;HP:0012735;HP:0032445	OMIM:601200	4	0	0	0	5	4	HP:0002094;HP:0002098;HP:0002107;HP:0012735;HP:0032445
MONDO:0011374	hypercholesterolemia, familial, 4	direct	8	OMIM:603813	6	2	1	0	5	4	HP:0001084;HP:0001114;HP:0001650;HP:0001658;HP:0003141	OMIM:603813	6	2	1	0	5	4	HP:0001084;HP:0001114;HP:0001650;HP:0001658;HP:0003141
MONDO:0011436	autosomal recessive distal spinal muscular atrophy 1	direct	13	OMIM:604320	32	7	0	1	5	25	HP:0000763;HP:0001284;HP:0002015;HP:0002366;HP:0012332	OMIM:604320	32	7	0	1	5	25	HP:0000763;HP:0001284;HP:0002015;HP:0002366;HP:0012332
MONDO:0011450	breast-ovarian cancer, familial, susceptibility to, 1	direct	7	OMIM:604370	5	1	1	0	5	4	HP:0002861;HP:0006725;HP:0012125;HP:0030394;HP:0030406	OMIM:604370	5	1	1	0	5	4	HP:0002861;HP:0006725;HP:0012125;HP:0030394;HP:0030406
MONDO:0011843	hypertrophic cardiomyopathy 25	direct	7	OMIM:607487	5	1	1	0	5	4	HP:0001635;HP:0001685;HP:0001723;HP:0005110;HP:0025168	OMIM:607487	5	1	1	0	5	4	HP:0001635;HP:0001685;HP:0001723;HP:0005110;HP:0025168
MONDO:0011994	autosomal dominant nonsyndromic hearing loss 41	direct	7	OMIM:608224	5	2	0	0	5	3	HP:0001757;HP:0008596;HP:0008615;HP:0008619;HP:0012534	OMIM:608224	5	2	0	0	5	3	HP:0001757;HP:0008596;HP:0008615;HP:0008619;HP:0012534
MONDO:0012368	aminoacylase 1 deficiency	direct	11	OMIM:609924;ORPHA:137754	28	3	3	0	5	25	HP:0000729;HP:0000750;HP:0001256;HP:0002342;HP:0007325	OMIM:609924;ORPHA:137754	28	3	3	0	5	25	HP:0000729;HP:0000750;HP:0001256;HP:0002342;HP:0007325
MONDO:0012516	mandibulofacial dysostosis-microcephaly syndrome	direct	19	OMIM:610536;ORPHA:79113	46	12	0	2	5	34	HP:0000324;HP:0000407;HP:0000925;HP:0002575;HP:0010669	OMIM:610536;ORPHA:79113	46	12	0	2	5	34	HP:0000324;HP:0000407;HP:0000925;HP:0002575;HP:0010669
MONDO:0012588	neuronal ceroid lipofuscinosis 7	direct	8	OMIM:610951	18	1	0	2	5	17	HP:0000546;HP:0000708;HP:0001336;HP:0002376;HP:0004302	OMIM:610951	18	1	0	2	5	17	HP:0000546;HP:0000708;HP:0001336;HP:0002376;HP:0004302
MONDO:0012624	acyl-CoA dehydrogenase 9 deficiency	direct	9	OMIM:611126;ORPHA:99901	40	3	0	1	5	37	HP:0000124;HP:0000648;HP:0001250;HP:0012758;HP:0100543	OMIM:611126;ORPHA:99901	40	3	0	1	5	37	HP:0000124;HP:0000648;HP:0001250;HP:0012758;HP:0100543
MONDO:0012648	isobutyryl-CoA dehydrogenase deficiency	direct	14	OMIM:611283;ORPHA:79159	13	9	0	0	5	4	HP:0000717;HP:0001270;HP:0001397;HP:0001510;HP:0002910	OMIM:611283;ORPHA:79159	13	9	0	0	5	4	HP:0000717;HP:0001270;HP:0001397;HP:0001510;HP:0002910
MONDO:0013030	dilated cardiomyopathy 1BB	direct	8	OMIM:612877	8	2	0	1	5	6	HP:0001645;HP:0001685;HP:0004756;HP:0005133;HP:0010872	OMIM:612877	8	2	0	1	5	6	HP:0001645;HP:0001685;HP:0004756;HP:0005133;HP:0010872
MONDO:0013131	polycystic kidney disease 2	direct	10	OMIM:613095	24	4	0	1	5	20	HP:0000787;HP:0007029;HP:0012213;HP:0012587;HP:0030157	OMIM:613095	24	4	0	1	5	20	HP:0000787;HP:0007029;HP:0012213;HP:0012587;HP:0030157
MONDO:0013228	spondylo-megaepiphyseal-metaphyseal dysplasia	direct	13	OMIM:613330	35	7	0	1	5	28	HP:0001257;HP:0002247;HP:0003417;HP:0008462;HP:0025369	OMIM:613330	35	7	0	1	5	28	HP:0001257;HP:0002247;HP:0003417;HP:0008462;HP:0025369
MONDO:0013284	immunodeficiency, common variable, 4	direct	8	OMIM:613494	10	3	0	0	5	7	HP:0005425;HP:0010976;HP:0030381;HP:0030384;HP:0030388	OMIM:613494	10	3	0	0	5	7	HP:0005425;HP:0010976;HP:0030381;HP:0030384;HP:0030388
MONDO:0013388	developmental and epileptic encephalopathy, 11	direct	10	OMIM:613721	14	2	0	3	5	12	HP:0011097;HP:0011170;HP:0031491;HP:0032786;HP:0032807	OMIM:613721	14	2	0	3	5	12	HP:0011097;HP:0011170;HP:0031491;HP:0032786;HP:0032807
MONDO:0013408	FADD-related immunodeficiency	direct	14	OMIM:613759;ORPHA:306550	17	4	4	1	5	13	HP:0002716;HP:0002851;HP:0007917;HP:0011505;HP:6000016	OMIM:613759;ORPHA:306550	17	4	4	1	5	13	HP:0002716;HP:0002851;HP:0007917;HP:0011505;HP:6000016
MONDO:0013453	Leber congenital amaurosis 8	direct	11	OMIM:613835	16	5	0	1	5	11	HP:0000662;HP:0001133;HP:0007754;HP:0007763;HP:0040049	OMIM:613835	16	5	0	1	5	11	HP:0000662;HP:0001133;HP:0007754;HP:0007763;HP:0040049
MONDO:0013836	familial steroid-resistant nephrotic syndrome with sensorineural deafness	direct	10	OMIM:614650	13	3	0	2	5	10	HP:0000648;HP:0001252;HP:0001510;HP:0001942;HP:0003073	OMIM:614650	13	3	0	2	5	10	HP:0000648;HP:0001252;HP:0001510;HP:0001942;HP:0003073
MONDO:0013865	mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	direct	19	OMIM:614702;ORPHA:314637	37	14	0	0	5	23	HP:0001324;HP:0001410;HP:0002079;HP:0002134;HP:0002490	OMIM:614702;ORPHA:314637	37	14	0	0	5	23	HP:0001324;HP:0001410;HP:0002079;HP:0002134;HP:0002490
MONDO:0013954	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	direct	5	OMIM:614890	4	0	0	0	5	4	HP:0002728;HP:0020087;HP:0033253;HP:5210093;HP:5210115	OMIM:614890	4	0	0	0	5	4	HP:0002728;HP:0020087;HP:0033253;HP:5210093;HP:5210115
MONDO:0013983	ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive	direct	13	OMIM:614941	21	7	0	1	5	14	HP:0000966;HP:0001097;HP:0002007;HP:0002046;HP:0008404	OMIM:614941	21	7	0	1	5	14	HP:0000966;HP:0001097;HP:0002007;HP:0002046;HP:0008404
MONDO:0014077	cobblestone lissencephaly without muscular or ocular involvement	direct	15	OMIM:615191;ORPHA:352682	28	10	0	0	5	18	HP:0000252;HP:0001297;HP:0002324;HP:0002350;HP:0007033	OMIM:615191;ORPHA:352682	28	10	0	0	5	18	HP:0000252;HP:0001297;HP:0002324;HP:0002350;HP:0007033
MONDO:0014082	cryptosporidiosis-chronic cholangitis-liver disease syndrome	direct	13	OMIM:615207	18	3	4	1	5	15	HP:0002099;HP:0002665;HP:0003212;HP:0011123;HP:0030374	OMIM:615207	18	3	4	1	5	15	HP:0002099;HP:0002665;HP:0003212;HP:0011123;HP:0030374
MONDO:0014086	osteogenesis imperfecta type 15	direct	11	OMIM:615220	13	3	1	2	5	10	HP:0000703;HP:0001249;HP:0002953;HP:0004349;HP:0006487	OMIM:615220	13	3	1	2	5	10	HP:0000703;HP:0001249;HP:0002953;HP:0004349;HP:0006487
MONDO:0014171	complex cortical dysplasia with other brain malformations 4	direct	9	OMIM:615412	12	3	1	0	5	9	HP:0000243;HP:0001270;HP:0002119;HP:0010864;HP:0012430	OMIM:615412	12	3	1	0	5	9	HP:0000243;HP:0001270;HP:0002119;HP:0010864;HP:0012430
MONDO:0014199	developmental and epileptic encephalopathy, 17	direct	12	OMIM:615473	17	4	1	2	5	13	HP:0001249;HP:0001252;HP:0002133;HP:0011097;HP:0011968	OMIM:615473	17	4	1	2	5	13	HP:0001249;HP:0001252;HP:0002133;HP:0011097;HP:0011968
MONDO:0014454	Hennekam lymphangiectasia-lymphedema syndrome 2	direct	15	OMIM:616006	21	7	0	3	5	14	HP:0001250;HP:0001888;HP:0002243;HP:0003073;HP:0004313	OMIM:616006	21	7	0	3	5	14	HP:0001250;HP:0001888;HP:0002243;HP:0003073;HP:0004313
MONDO:0014531	amyotrophic lateral sclerosis type 22	direct	7	OMIM:616208	5	2	0	0	5	3	HP:0001250;HP:0001251;HP:0001257;HP:0003198;HP:0003236	OMIM:616208	5	2	0	0	5	3	HP:0001250;HP:0001251;HP:0001257;HP:0003198;HP:0003236
MONDO:0014563	mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency	direct	9	OMIM:616277	27	2	1	1	5	25	HP:0000648;HP:0001250;HP:0002376;HP:0003128;HP:0007146	OMIM:616277	27	2	1	1	5	25	HP:0000648;HP:0001250;HP:0002376;HP:0003128;HP:0007146
MONDO:0014684	combined oxidative phosphorylation defect type 26	direct	16	OMIM:616539	42	7	2	2	5	35	HP:0001249;HP:0001250;HP:0001317;HP:0002579;HP:0004322	OMIM:616539	42	7	2	2	5	35	HP:0001249;HP:0001250;HP:0001317;HP:0002579;HP:0004322
MONDO:0014733	Charcot-Marie-Tooth disease type 4K	direct	8	OMIM:616684	17	2	1	0	5	15	HP:0002460;HP:0002936;HP:0003128;HP:0003431;HP:0008347	OMIM:616684	17	2	1	0	5	15	HP:0002460;HP:0002936;HP:0003128;HP:0003431;HP:0008347
MONDO:0014883	hypertrophic cardiomyopathy 26	direct	9	OMIM:617047	19	3	0	1	5	16	HP:0001712;HP:0001723;HP:0025168;HP:0031194;HP:0033127	OMIM:617047	19	3	0	1	5	16	HP:0001712;HP:0001723;HP:0025168;HP:0031194;HP:0033127
MONDO:0015453	Cogan syndrome	direct	17	ORPHA:1467	20	9	3	0	5	11	HP:0005145;HP:0012089;HP:0025188;HP:0033678;HP:6001461	ORPHA:1467	20	9	3	0	5	11	HP:0005145;HP:0012089;HP:0025188;HP:0033678;HP:6001461
MONDO:0015584	febrile infection-related epilepsy syndrome	direct	9	ORPHA:163703	12	3	0	1	5	9	HP:0001249;HP:0001298;HP:0002069;HP:0002133;HP:0100543	ORPHA:163703	12	3	0	1	5	9	HP:0001249;HP:0001298;HP:0002069;HP:0002133;HP:0100543
MONDO:0016483	intracranial berry aneurysm	direct	9	ORPHA:231160	15	3	0	1	5	12	HP:0000238;HP:0000602;HP:0002017;HP:0003306;HP:0030907	OMIM:105800;OMIM:608542;OMIM:609122;OMIM:618734;ORPHA:231160	22	3	0	1	5	19	HP:0000238;HP:0000602;HP:0002017;HP:0003306;HP:0030907
MONDO:0017140	L1 syndrome	direct	11	ORPHA:275543	16	4	2	0	5	12	HP:0001274;HP:0002079;HP:0002119;HP:0002381;HP:0007016	OMIM:303350;OMIM:304100;OMIM:307000;ORPHA:1497;ORPHA:2182;ORPHA:2466;ORPHA:275543;ORPHA:306617	62	11	0	0	0	51	
MONDO:0017312	Perrault syndrome	direct	20	ORPHA:2855	19	8	1	0	11	11	HP:0000496;HP:0000815;HP:0000939;HP:0001249;HP:0001265;HP:0002500;HP:0003251;HP:0003701;HP:0006958;HP:0008222;HP:0012622	OMIM:233400;OMIM:614129;OMIM:614926;OMIM:615300;OMIM:616138;OMIM:617565;OMIM:621101;ORPHA:2855	67	14	0	1	5	53	HP:0002500;HP:0003251;HP:0003701;HP:0006958;HP:0008222
MONDO:0017325	early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation	direct	18	OMIM:245570;ORPHA:289266	46	5	5	3	5	41	HP:0001270;HP:0002487;HP:0010845;HP:0100704;HP:0200134	OMIM:245570;ORPHA:289266	46	5	5	3	5	41	HP:0001270;HP:0002487;HP:0010845;HP:0100704;HP:0200134
MONDO:0017694	glycogen storage disease due to acid maltase deficiency, infantile onset	direct	20	OMIM:232300;ORPHA:308552	64	12	1	2	5	52	HP:0000508;HP:0000938;HP:0001260;HP:0001611;HP:0002015	OMIM:232300;ORPHA:308552	64	12	1	2	5	52	HP:0000508;HP:0000938;HP:0001260;HP:0001611;HP:0002015
MONDO:0017859	colchicine poisoning	direct	15	ORPHA:31824	29	5	5	0	5	24	HP:0001410;HP:0002027;HP:0003201;HP:0003701;HP:0009830	ORPHA:31824	29	5	5	0	5	24	HP:0001410;HP:0002027;HP:0003201;HP:0003701;HP:0009830
MONDO:0017860	methanol poisoning	direct	14	ORPHA:31825	29	6	1	2	5	23	HP:0001300;HP:0001733;HP:0002615;HP:0002789;HP:0009830	ORPHA:31825	29	6	1	2	5	23	HP:0001300;HP:0001733;HP:0002615;HP:0002789;HP:0009830
MONDO:0018060	congenital fibrinogen deficiency	direct	6	ORPHA:335	26	0	0	0	6	26	HP:0001394;HP:0001395;HP:0002240;HP:0002910;HP:0011900;HP:0034075	OMIM:202400;OMIM:616004;ORPHA:101041;ORPHA:335;ORPHA:98880;ORPHA:98881	50	1	0	0	5	49	HP:0001394;HP:0001395;HP:0002240;HP:0002910;HP:0034075
MONDO:0018229	Stevens-Johnson syndrome	direct	10	ORPHA:36426	39	4	0	1	5	35	HP:0002093;HP:0003249;HP:0031446;HP:0032156;HP:0033834	ORPHA:36426	39	4	0	1	5	35	HP:0002093;HP:0003249;HP:0031446;HP:0032156;HP:0033834
MONDO:0018876	mantle cell lymphoma	direct	12	ORPHA:52416	9	5	2	0	5	4	HP:0001873;HP:0001903;HP:0002240;HP:0030166;HP:0100827	ORPHA:52416	9	5	2	0	5	4	HP:0001873;HP:0001903;HP:0002240;HP:0030166;HP:0100827
MONDO:0018945	XK-related neurodegenerative disease	direct	14	OMIM:300842	31	7	0	2	5	24	HP:0000709;HP:0001645;HP:0002340;HP:0003202;HP:0100543	OMIM:300842	31	7	0	2	5	24	HP:0000709;HP:0001645;HP:0002340;HP:0003202;HP:0100543
MONDO:0019366	free sialic acid storage disease	direct	18	ORPHA:834	30	8	3	0	7	22	HP:0000709;HP:0000718;HP:0001272;HP:0001640;HP:0002079;HP:0002360;HP:0006808	OMIM:269920;OMIM:269921;OMIM:604369;ORPHA:3166;ORPHA:834	105	11	1	1	5	94	HP:0000709;HP:0000718;HP:0001272;HP:0002079;HP:0006808
MONDO:0019385	steroid-responsive encephalopathy associated with autoimmune thyroiditis	direct	9	ORPHA:83601	24	2	0	2	5	22	HP:0001251;HP:0001260;HP:0001336;HP:0002354;HP:0002360	ORPHA:83601	24	2	0	2	5	22	HP:0001251;HP:0001260;HP:0001336;HP:0002354;HP:0002360
MONDO:0019516	exudative vitreoretinopathy	direct	20	ORPHA:891	27	12	2	1	5	15	HP:0000486;HP:0000545;HP:0000639;HP:0001147;HP:0007968	OMIM:133780;OMIM:259770;OMIM:305390;OMIM:601813;OMIM:605750;OMIM:613310;OMIM:614228;OMIM:614563;OMIM:616468;OMIM:617572;OMIM:621268;ORPHA:2788;ORPHA:891;ORPHA:90050	157	20	0	0	0	137	
MONDO:0020741	pyridoxine-dependent epilepsy caused by ALDH7A1 mutant	direct	8	OMIM:266100	18	3	0	0	5	15	HP:0000717;HP:0002079;HP:0002119;HP:0012469;HP:0032807	OMIM:266100	18	3	0	0	5	15	HP:0000717;HP:0002079;HP:0002119;HP:0012469;HP:0032807
MONDO:0021573	oocyte maturation defect 2	direct	7	OMIM:616780	4	2	0	0	5	2	HP:0002916;HP:0020003;HP:0033336;HP:4000008;HP:6001356	OMIM:616780	4	2	0	0	5	2	HP:0002916;HP:0020003;HP:0033336;HP:4000008;HP:6001356
MONDO:0024568	infantile liver failure syndrome 1	direct	13	OMIM:615438	21	7	1	0	5	14	HP:0000124;HP:0001298;HP:0001511;HP:0003073;HP:0011968	OMIM:615438	21	7	1	0	5	14	HP:0000124;HP:0001298;HP:0001511;HP:0003073;HP:0011968
MONDO:0029134	severe combined immunodeficiency due to CARMIL2 deficiency	direct	15	OMIM:618131	42	6	1	3	5	36	HP:0020113;HP:0030374;HP:0031459;HP:0032183;HP:0040218	OMIM:618131	42	6	1	3	5	36	HP:0020113;HP:0030374;HP:0031459;HP:0032183;HP:0040218
MONDO:0030005	epilepsy, early-onset, with or without developmental delay	direct	8	OMIM:618832	6	1	1	1	5	5	HP:0002353;HP:0002384;HP:0002521;HP:0011097;HP:0020217	OMIM:618832	6	1	1	1	5	5	HP:0002353;HP:0002384;HP:0002521;HP:0011097;HP:0020217
MONDO:0030323	spinocerebellar ataxia, autosomal recessive 31	direct	15	OMIM:619422	42	5	2	3	5	37	HP:0000044;HP:0001249;HP:0001258;HP:0001263;HP:0001639	OMIM:619422	42	5	2	3	5	37	HP:0000044;HP:0001249;HP:0001258;HP:0001263;HP:0001639
MONDO:0030500	Loeys-Dietz syndrome 6	direct	13	OMIM:619656	56	4	1	3	5	52	HP:0001250;HP:0001263;HP:0002647;HP:0006702;HP:0030853	OMIM:619656	56	4	1	3	5	52	HP:0001250;HP:0001263;HP:0002647;HP:0006702;HP:0030853
MONDO:0030970	immunodeficiency 106, susceptibility to viral infections	direct	5	OMIM:619935	5	0	0	0	5	5	HP:0002090;HP:0012156;HP:0012649;HP:0031691;HP:0031697	OMIM:619935	5	0	0	0	5	5	HP:0002090;HP:0012156;HP:0012649;HP:0031691;HP:0031697
MONDO:0030981	immunodeficiency 79	direct	7	OMIM:619238	8	0	0	2	5	8	HP:0002028;HP:0002090;HP:0002829;HP:0009098;HP:0011274	OMIM:619238	8	0	0	2	5	8	HP:0002028;HP:0002090;HP:0002829;HP:0009098;HP:0011274
MONDO:0032579	warburg-cinotti syndrome	direct	13	OMIM:618175	36	6	0	2	5	30	HP:0001371;HP:0002828;HP:0003758;HP:0010562;HP:0200042	OMIM:618175	36	6	0	2	5	30	HP:0001371;HP:0002828;HP:0003758;HP:0010562;HP:0200042
MONDO:0032608	mitochondrial complex I deficiency, nuclear type 3	direct	8	OMIM:618224	19	3	0	0	5	16	HP:0000639;HP:0000648;HP:0003128;HP:0011923;HP:0012751	OMIM:618224	19	3	0	0	5	16	HP:0000639;HP:0000648;HP:0003128;HP:0011923;HP:0012751
MONDO:0032710	developmental and epileptic encephalopathy, 72	direct	8	OMIM:618374	20	1	0	2	5	19	HP:0000729;HP:0000750;HP:0001249;HP:0007018;HP:0020174	OMIM:618374	20	1	0	2	5	19	HP:0000729;HP:0000750;HP:0001249;HP:0007018;HP:0020174
MONDO:0032792	neuropathy, hereditary motor and sensory, type VIc, with optic atrophy	direct	9	OMIM:618511	18	4	0	0	5	14	HP:0000649;HP:0002460;HP:0002936;HP:0003477;HP:0032807	OMIM:618511	18	4	0	0	5	14	HP:0000649;HP:0002460;HP:0002936;HP:0003477;HP:0032807
MONDO:0032798	ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features	direct	12	OMIM:618527	28	4	3	0	5	24	HP:0000648;HP:0001263;HP:0001336;HP:0001999;HP:0002079	OMIM:618527	28	4	3	0	5	24	HP:0000648;HP:0001263;HP:0001336;HP:0001999;HP:0002079
MONDO:0032803	immunodeficiency 64	direct	13	OMIM:618534	26	5	0	3	5	21	HP:0001297;HP:0002625;HP:0005403;HP:0005523;HP:0012189	OMIM:618534	26	5	0	3	5	21	HP:0001297;HP:0002625;HP:0005403;HP:0005523;HP:0012189
MONDO:0032853	myopathy, distal, 6, adult-onset, autosomal dominant	direct	10	OMIM:618655	13	4	1	0	5	9	HP:0003325;HP:0003687;HP:0003789;HP:0012548;HP:0030319	OMIM:618655	13	4	1	0	5	9	HP:0003325;HP:0003687;HP:0003789;HP:0012548;HP:0030319
MONDO:0032895	developmental and epileptic encephalopathy, 83	direct	16	OMIM:618744	32	9	1	1	5	23	HP:0000505;HP:0000540;HP:0001999;HP:0007703;HP:0200134	OMIM:618744	32	9	1	1	5	23	HP:0000505;HP:0000540;HP:0001999;HP:0007703;HP:0200134
MONDO:0032918	developmental and epileptic encephalopathy, 84	direct	15	OMIM:618792	32	5	1	4	5	27	HP:0001249;HP:0001272;HP:0001999;HP:0002015;HP:0002059	OMIM:618792	32	5	1	4	5	27	HP:0001249;HP:0001272;HP:0001999;HP:0002015;HP:0002059
MONDO:0033375	orofaciodigital syndrome 17	direct	8	OMIM:617926	24	1	0	2	5	23	HP:0000110;HP:0000199;HP:0001263;HP:0001999;HP:0002419	OMIM:617926	24	1	0	2	5	23	HP:0000110;HP:0000199;HP:0001263;HP:0001999;HP:0002419
MONDO:0033636	mitochondrial complex IV deficiency, nuclear type 4	direct	5	OMIM:619048	22	0	0	0	5	22	HP:0001250;HP:0001298;HP:0001399;HP:0003128;HP:0040075	OMIM:619048	22	0	0	0	5	22	HP:0001250;HP:0001298;HP:0001399;HP:0003128;HP:0040075
MONDO:0033638	mitochondrial complex IV deficiency, nuclear type 8	direct	6	OMIM:619052	16	0	0	1	5	16	HP:0000505;HP:0001268;HP:0001298;HP:0003128;HP:0007146	OMIM:619052	16	0	0	1	5	16	HP:0000505;HP:0001268;HP:0001298;HP:0003128;HP:0007146
MONDO:0033646	mitochondrial complex IV deficiency, nuclear type 12	direct	16	OMIM:619055	36	9	1	1	5	27	HP:0001263;HP:0001410;HP:0002093;HP:0002180;HP:0007146	OMIM:619055	36	9	1	1	5	27	HP:0001263;HP:0001410;HP:0002093;HP:0002180;HP:0007146
MONDO:0033651	mitochondrial complex IV deficiency, nuclear type 16	direct	11	OMIM:619060	26	3	0	3	5	23	HP:0001249;HP:0001298;HP:0001999;HP:0003128;HP:0007146	OMIM:619060	26	3	0	3	5	23	HP:0001249;HP:0001298;HP:0001999;HP:0003128;HP:0007146
MONDO:0033664	Kilquist syndrome	direct	9	OMIM:619080	27	1	0	3	5	26	HP:0000970;HP:0001097;HP:0001508;HP:0002579;HP:0006536	OMIM:619080	27	1	0	3	5	26	HP:0000970;HP:0001097;HP:0001508;HP:0002579;HP:0006536
MONDO:0035819	cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome	direct	24	OMIM:619273	35	14	1	4	5	21	HP:0001510;HP:0001744;HP:0001903;HP:0010972;HP:0034278	OMIM:619273	35	14	1	4	5	21	HP:0001510;HP:0001744;HP:0001903;HP:0010972;HP:0034278
MONDO:0036484	Charcot-Marie-Tooth disease, dominant intermediate G	direct	14	OMIM:617882	30	7	2	0	5	23	HP:0001260;HP:0001272;HP:0003383;HP:0003431;HP:0034337	OMIM:617882	30	7	2	0	5	23	HP:0001260;HP:0001272;HP:0003383;HP:0003431;HP:0034337
MONDO:0700250	mitochondrial complex IV deficiency, nuclear type 1	direct	14	OMIM:220110	44	8	0	1	5	36	HP:0000998;HP:0001298;HP:0001332;HP:0002363;HP:0011968	OMIM:220110	44	8	0	1	5	36	HP:0000998;HP:0001298;HP:0001332;HP:0002363;HP:0011968
MONDO:0859156	dysostosis multiplex, Ain-Naz type	direct	11	OMIM:619345	16	3	3	0	5	13	HP:0001363;HP:0005180;HP:0030043;HP:0034392;HP:6000342	OMIM:619345	16	3	3	0	5	13	HP:0001363;HP:0005180;HP:0030043;HP:0034392;HP:6000342
MONDO:0859203	rhizomelic dysplasia, Ain-Naz type	direct	22	OMIM:619598	41	15	1	1	5	26	HP:0001156;HP:0002663;HP:0002721;HP:0003015;HP:0005616	OMIM:619598	41	15	1	1	5	26	HP:0001156;HP:0002663;HP:0002721;HP:0003015;HP:0005616
MONDO:0859319	dyskeratosis congenita, autosomal recessive 8	direct	9	OMIM:620133	21	3	0	1	5	18	HP:0000164;HP:0004313;HP:0007427;HP:0008069;HP:0031413	OMIM:620133	21	3	0	1	5	18	HP:0000164;HP:0004313;HP:0007427;HP:0008069;HP:0031413
MONDO:0957210	neurooculorenal syndrome	direct	17	OMIM:620305	49	8	0	4	5	41	HP:0000076;HP:0000800;HP:0001999;HP:0007016;HP:0040075	OMIM:620305	49	8	0	4	5	41	HP:0000076;HP:0000800;HP:0001999;HP:0007016;HP:0040075
MONDO:0957270	muscular dystrophy, limb-girdle, autosomal recessive 28	direct	15	OMIM:620375	38	9	1	0	5	29	HP:0001270;HP:0001319;HP:0001394;HP:0002650;HP:0003458	OMIM:620375	38	9	1	0	5	29	HP:0001270;HP:0001319;HP:0001394;HP:0002650;HP:0003458
MONDO:0002012	methylmalonic acidemia	subtree_only	19									OMIM:251000;OMIM:251100;OMIM:251110;OMIM:251120;OMIM:277380;OMIM:277400;OMIM:277410;OMIM:309541;OMIM:613646;OMIM:614265;OMIM:614857;OMIM:620940;OMIM:620953;ORPHA:26;ORPHA:27;ORPHA:28;ORPHA:289504;ORPHA:289916;ORPHA:79282;ORPHA:79283;ORPHA:79284;ORPHA:79312	233	12	2	0	5	221	HP:0000939;HP:0001138;HP:0001657;HP:0004349;HP:0009125
MONDO:0004950	gastric carcinoma	subtree_only	7									OMIM:619182	5	1	0	1	5	4	HP:0001824;HP:0002015;HP:0002018;HP:0002039;HP:0033842
MONDO:0004989	breast carcinoma	subtree_only	7									OMIM:114480	3	1	0	1	5	2	HP:0001824;HP:0002094;HP:0002315;HP:0002653;HP:0012378
MONDO:0005233	non-small cell lung carcinoma	subtree_only	11									OMIM:601200;ORPHA:64741	12	5	0	1	5	7	HP:0002315;HP:0002653;HP:0012378;HP:0030078;HP:0030692
MONDO:0016764	isolated anophthalmia-microphthalmia syndrome	subtree_only	17									OMIM:156850;OMIM:251505;OMIM:600165;OMIM:609549;OMIM:610092;OMIM:610093;OMIM:611038;OMIM:611638;OMIM:613094;OMIM:613517;OMIM:613703;OMIM:613704;OMIM:614497;OMIM:615113;OMIM:615145;OMIM:615972;OMIM:616428;OMIM:620731;OMIM:620968;ORPHA:35612	76	12	0	0	5	64	HP:0000135;HP:0000581;HP:0002032;HP:0002079;HP:0040075
MONDO:0019452	myeloproliferative neoplasm, unclassifiable	subtree_only	5									OMIM:131440	4	0	0	0	5	4	HP:0001744;HP:0001894;HP:0001974;HP:0001977;HP:0012378
MONDO:0020311	chronic myelomonocytic leukemia	subtree_only	5									OMIM:607785	3	0	0	0	5	3	HP:0001744;HP:0001892;HP:0001945;HP:0012311;HP:0012378
MONDO:0800470	TUBB4A-related neurologic disorder	subtree_only	20									OMIM:612438	31	11	3	1	5	20	HP:0000407;HP:0001618;HP:0002015;HP:0002134;HP:0002505
MONDO:1060172	FAM111A-related skeletal dysplasia	subtree_only	22									OMIM:127000;OMIM:602361;ORPHA:93325	58	12	2	3	5	46	HP:0000121;HP:0000252;HP:0000260;HP:0002089;HP:0002757
MONDO:0001444	Chagas disease	direct	9	ORPHA:3386	27	3	1	1	4	24	HP:0001678;HP:0002019;HP:0002031;HP:0011710	ORPHA:3386	27	3	1	1	4	24	HP:0001678;HP:0002019;HP:0002031;HP:0011710
MONDO:0001881	toxic shock syndrome	direct	16	ORPHA:36234	60	9	3	0	4	51	HP:0001019;HP:0030953;HP:0031042;HP:0031956	ORPHA:36234	60	9	3	0	4	51	HP:0001019;HP:0030953;HP:0031042;HP:0031956
MONDO:0002422	adamantinoma	direct	8	OMIM:102660;ORPHA:55881	5	2	2	0	4	3	HP:0002733;HP:0002797;HP:0002982;HP:6000840	OMIM:102660;ORPHA:55881	5	2	2	0	4	3	HP:0002733;HP:0002797;HP:0002982;HP:6000840
MONDO:0002974	cervical cancer	direct	4	OMIM:603956	3	0	0	0	4	3	HP:0000790;HP:0002027;HP:0034269;HP:0100608	OMIM:603956	3	0	0	0	4	3	HP:0000790;HP:0002027;HP:0034269;HP:0100608
MONDO:0004933	hypoplastic left heart syndrome	direct	9	ORPHA:2248	8	3	0	0	6	5	HP:0000961;HP:0001680;HP:0001706;HP:0001708;HP:0010883;HP:0030149	OMIM:241550;OMIM:614435;ORPHA:2248	17	5	0	0	4	12	HP:0000961;HP:0001706;HP:0001708;HP:0030149
MONDO:0005002	chronic obstructive pulmonary disease	direct	10	OMIM:606963	1	0	0	0	10	1	HP:0001552;HP:0001824;HP:0002094;HP:0003546;HP:0012378;HP:0012416;HP:0012418;HP:0030828;HP:0033709;HP:0034315	OMIM:130700;OMIM:130710;OMIM:211400;OMIM:604809;OMIM:606963;OMIM:613021;OMIM:613071;ORPHA:1928;ORPHA:60033	43	3	2	1	4	40	HP:0001552;HP:0003546;HP:0012378;HP:0033709
MONDO:0005498	botulism	direct	20	ORPHA:1267	18	8	3	2	7	10	HP:0000508;HP:0000602;HP:0000622;HP:0001252;HP:0001618;HP:0002094;HP:0030319	ORPHA:1267;ORPHA:178475;ORPHA:178478;ORPHA:178481;ORPHA:178487;ORPHA:228371;ORPHA:230800;ORPHA:254504;ORPHA:254509	43	13	3	0	4	30	HP:0000602;HP:0000622;HP:0001618;HP:0030319
MONDO:0005580	esophageal squamous cell carcinoma	direct	5	ORPHA:99977	8	1	0	0	4	7	HP:0001824;HP:0002015;HP:0002248;HP:0032043	ORPHA:99977	8	1	0	0	4	7	HP:0001824;HP:0002015;HP:0002248;HP:0032043
MONDO:0005683	brucellosis	direct	20	ORPHA:1304	77	14	2	0	4	63	HP:0003326;HP:0003418;HP:0033631;HP:0033834	ORPHA:1304	77	14	2	0	4	63	HP:0003326;HP:0003418;HP:0033631;HP:0033834
MONDO:0005825	leptospirosis	direct	15	ORPHA:509	40	9	2	0	4	31	HP:0000509;HP:0005521;HP:0033677;HP:0100520	ORPHA:509	40	9	2	0	4	31	HP:0000509;HP:0005521;HP:0033677;HP:0100520
MONDO:0006412	sinus histiocytosis with massive lymphadenopathy	direct	15	ORPHA:158014	12	4	2	0	9	8	HP:0000077;HP:0000520;HP:0001742;HP:0001744;HP:0001974;HP:0002176;HP:0002240;HP:0003565;HP:0010651	OMIM:602782;ORPHA:158014;ORPHA:168569	93	10	1	0	4	83	HP:0001742;HP:0001974;HP:0002176;HP:0010651
MONDO:0007103	amyotrophic lateral sclerosis type 1	direct	12	OMIM:105400	16	6	2	0	4	10	HP:0000009;HP:0002066;HP:0002093;HP:0003474	OMIM:105400	16	6	2	0	4	10	HP:0000009;HP:0002066;HP:0002093;HP:0003474
MONDO:0007168	atelosteogenesis type III	direct	16	OMIM:108721;ORPHA:56305	48	10	1	1	4	38	HP:0000316;HP:0002104;HP:0005008;HP:0011304	OMIM:108721;ORPHA:56305	48	10	1	1	4	38	HP:0000316;HP:0002104;HP:0005008;HP:0011304
MONDO:0007186	gastroesophageal reflux disease	direct	5	OMIM:109350	5	1	0	0	4	4	HP:0001609;HP:0002015;HP:0012735;HP:0410281	OMIM:109350	5	1	0	0	4	4	HP:0001609;HP:0002015;HP:0012735;HP:0410281
MONDO:0007243	Burkitt lymphoma	direct	6	OMIM:113970;ORPHA:543	18	1	1	0	4	17	HP:0012191;HP:0030793;HP:0031500;HP:0100836	OMIM:113970;ORPHA:543	18	1	1	0	4	17	HP:0012191;HP:0030793;HP:0031500;HP:0100836
MONDO:0007256	hepatocellular carcinoma	direct	7	OMIM:114550	4	0	0	0	7	4	HP:0000952;HP:0001541;HP:0001824;HP:0002018;HP:0002027;HP:0002240;HP:0012378	OMIM:114550;ORPHA:33402	13	3	0	0	4	10	HP:0000952;HP:0001541;HP:0001824;HP:0002018
MONDO:0007296	spinocerebellar ataxia type 31	direct	12	OMIM:117210;ORPHA:217012	17	6	0	2	4	11	HP:0001252;HP:0001300;HP:0002015;HP:0100543	OMIM:117210;ORPHA:217012	17	6	0	2	4	11	HP:0001252;HP:0001300;HP:0002015;HP:0100543
MONDO:0007352	renal coloboma syndrome	direct	20	OMIM:120330;ORPHA:1475	50	14	2	0	4	36	HP:0000097;HP:0000482;HP:0002149;HP:0012592	OMIM:120330;ORPHA:1475	50	14	2	0	4	36	HP:0000097;HP:0000482;HP:0002149;HP:0012592
MONDO:0007562	multiple epiphyseal dysplasia, Beighton type	direct	13	OMIM:132450	14	8	0	1	4	6	HP:0000479;HP:0001156;HP:0003468;HP:0010574	OMIM:132450	14	8	0	1	4	6	HP:0000479;HP:0001156;HP:0003468;HP:0010574
MONDO:0007656	Gerstmann-Straussler-Scheinker syndrome	direct	16	OMIM:137440;ORPHA:356	42	11	0	1	4	31	HP:0002015;HP:0002171;HP:0006790;HP:0011034	OMIM:137440;ORPHA:356	42	11	0	1	4	31	HP:0002015;HP:0002171;HP:0006790;HP:0011034
MONDO:0007750	hypercholesterolemia, familial, 1	direct	9	OMIM:143890	7	5	0	0	4	2	HP:0001658;HP:0001681;HP:0003124;HP:0004380	OMIM:143890	7	5	0	0	4	2	HP:0001658;HP:0001681;HP:0003124;HP:0004380
MONDO:0007777	hypotaurinemic retinal degeneration and cardiomyopathy	direct	10	OMIM:145350	16	3	0	3	4	13	HP:0000510;HP:0000512;HP:0001249;HP:0005165	OMIM:145350	16	3	0	3	4	13	HP:0000510;HP:0000512;HP:0001249;HP:0005165
MONDO:0007800	chromosome 18p deletion syndrome	direct	13	OMIM:146390;ORPHA:1598	59	9	0	0	4	50	HP:0000369;HP:0000486;HP:0000824;HP:0002720	OMIM:146390;ORPHA:1598	59	9	0	0	4	50	HP:0000369;HP:0000486;HP:0000824;HP:0002720
MONDO:0007827	inclusion body myositis	direct	10	OMIM:147421;ORPHA:611	20	3	1	0	6	17	HP:0002359;HP:0002505;HP:0003688;HP:0009027;HP:0011951;HP:0031177	OMIM:147421;OMIM:605637;OMIM:605820;ORPHA:602;ORPHA:611	65	4	2	0	4	61	HP:0002359;HP:0003688;HP:0011951;HP:0031177
MONDO:0007970	melorheostosis	direct	10	OMIM:155950;ORPHA:2485	20	2	2	2	4	18	HP:0003406;HP:0003474;HP:0010783;HP:6000840	OMIM:155950;ORPHA:2485	20	2	2	2	4	18	HP:0003406;HP:0003474;HP:0010783;HP:6000840
MONDO:0007984	metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome	direct	9	OMIM:156510	15	2	1	2	4	13	HP:0000889;HP:0002753;HP:0002857;HP:0006482	OMIM:156510	15	2	1	2	4	13	HP:0000889;HP:0002753;HP:0002857;HP:0006482
MONDO:0007986	metatropic dysplasia	direct	16	OMIM:156530;ORPHA:2635	68	7	4	1	4	61	HP:0000407;HP:0002007;HP:0003416;HP:0011800	OMIM:156530;ORPHA:2635	68	7	4	1	4	61	HP:0000407;HP:0002007;HP:0003416;HP:0011800
MONDO:0008146	osteogenesis imperfecta type 1	direct	14	OMIM:166200	21	7	2	1	4	14	HP:0000939;HP:0000975;HP:0002650;HP:0002653	OMIM:166200	21	7	2	1	4	14	HP:0000939;HP:0000975;HP:0002650;HP:0002653
MONDO:0008147	osteogenesis imperfecta type 2	direct	18	OMIM:166210	26	9	2	3	4	17	HP:0001511;HP:0002089;HP:0004349;HP:0008417	OMIM:166210	26	9	2	3	4	17	HP:0001511;HP:0002089;HP:0004349;HP:0008417
MONDO:0008148	osteogenesis imperfecta type 4	direct	14	OMIM:166220	16	7	1	2	4	9	HP:0002194;HP:0002653;HP:0002953;HP:0012366	OMIM:166220	16	7	1	2	4	9	HP:0002194;HP:0002653;HP:0002953;HP:0012366
MONDO:0008215	adult-onset autosomal dominant demyelinating leukodystrophy	direct	13	ORPHA:99027	61	6	1	0	6	55	HP:0001621;HP:0002076;HP:0002360;HP:0002415;HP:0012378;HP:0100851	OMIM:169500;ORPHA:99027	77	7	1	1	4	70	HP:0001621;HP:0002076;HP:0002360;HP:0012378
MONDO:0008364	Raynaud disease	direct	5	OMIM:179600	3	1	0	0	4	2	HP:0001063;HP:0003401;HP:0031917;HP:0033402	OMIM:179600	3	1	0	0	4	2	HP:0001063;HP:0003401;HP:0031917;HP:0033402
MONDO:0008479	spondylometaphyseal dysplasia, 'corner fracture' type	direct	14	OMIM:184255;ORPHA:93315	60	9	1	0	4	51	HP:0000501;HP:0000822;HP:0003467;HP:0005667	OMIM:184255;ORPHA:93315	60	9	1	0	4	51	HP:0000501;HP:0000822;HP:0003467;HP:0005667
MONDO:0008487	polycystic ovary syndrome	direct	6	OMIM:184700	7	2	0	0	4	5	HP:0000789;HP:0000858;HP:0001061;HP:0001596	OMIM:184700	7	2	0	0	4	5	HP:0000789;HP:0000858;HP:0001061;HP:0001596
MONDO:0008608	Down syndrome	direct	11	OMIM:190685;ORPHA:870	100	5	2	0	4	95	HP:0001263;HP:0002185;HP:0002870;HP:0100256	OMIM:190685;ORPHA:870	100	5	2	0	4	95	HP:0001263;HP:0002185;HP:0002870;HP:0100256
MONDO:0008647	hypertrophic cardiomyopathy 1	direct	10	OMIM:192600	6	2	3	1	4	4	HP:0001279;HP:0001685;HP:0025168;HP:0032092	OMIM:192600	6	2	3	1	4	4	HP:0001279;HP:0001685;HP:0025168;HP:0032092
MONDO:0008710	RAB23-related Carpenter syndrome	direct	17	OMIM:201000	68	8	0	5	4	60	HP:0000238;HP:0000520;HP:0001883;HP:0012725	OMIM:201000	68	8	0	5	4	60	HP:0000238;HP:0000520;HP:0001883;HP:0012725
MONDO:0008760	beta-ketothiolase deficiency	direct	16	OMIM:203750;ORPHA:134	47	10	1	1	4	37	HP:0001263;HP:0002094;HP:0002134;HP:0002878	OMIM:203750;ORPHA:134	47	10	1	1	4	37	HP:0001263;HP:0002094;HP:0002134;HP:0002878
MONDO:0008769	neuronal ceroid lipofuscinosis 2	direct	9	OMIM:204500	15	4	0	1	4	11	HP:0000556;HP:0001257;HP:0001332;HP:0002333	OMIM:204500	15	4	0	1	4	11	HP:0000556;HP:0001257;HP:0001332;HP:0002333
MONDO:0008783	Tangier disease	direct	27	OMIM:205400;ORPHA:31150	39	22	1	0	4	17	HP:0001892;HP:0001923;HP:0001952;HP:0004446	OMIM:205400;ORPHA:31150	39	22	1	0	4	17	HP:0001892;HP:0001923;HP:0001952;HP:0004446
MONDO:0009072	Dandy-Walker syndrome	direct	11	OMIM:220200;ORPHA:217	27	4	1	2	4	23	HP:0001250;HP:0001252;HP:0001263;HP:0002098	OMIM:220200;ORPHA:217	27	4	1	2	4	23	HP:0001250;HP:0001252;HP:0001263;HP:0002098
MONDO:0009376	carbamoyl phosphate synthetase I deficiency disease	direct	17	OMIM:237300;ORPHA:147	22	13	0	0	4	9	HP:0000252;HP:0000708;HP:0001298;HP:0002500	OMIM:237300;ORPHA:147	22	13	0	0	4	9	HP:0000252;HP:0000708;HP:0001298;HP:0002500
MONDO:0009411	autoimmune polyendocrine syndrome type 1	direct	20	OMIM:240300;ORPHA:3453	82	14	0	2	4	68	HP:0001025;HP:0001970;HP:0001972;HP:0034323	OMIM:240300;ORPHA:3453	82	14	0	2	4	68	HP:0001025;HP:0001970;HP:0001972;HP:0034323
MONDO:0009643	sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	direct	11	OMIM:252150	44	4	3	0	4	40	HP:0001263;HP:0001332;HP:0002104;HP:0020174	OMIM:252150	44	4	3	0	4	40	HP:0001263;HP:0001332;HP:0002104;HP:0020174
MONDO:0009689	congenital myasthenic syndrome 6	direct	12	OMIM:254210	21	6	1	1	4	15	HP:0001263;HP:0003546;HP:0003701;HP:0031372	OMIM:254210	21	6	1	1	4	15	HP:0001263;HP:0003546;HP:0003701;HP:0031372
MONDO:0009818	autosomal recessive osteopetrosis 3	direct	18	OMIM:259730;ORPHA:2785	70	11	2	1	4	59	HP:0000121;HP:0000337;HP:0000639;HP:0000684	OMIM:259730;ORPHA:2785	70	11	2	1	4	59	HP:0000121;HP:0000337;HP:0000639;HP:0000684
MONDO:0009946	hemolytic anemia due to pyrimidine 5' nucleotidase deficiency	direct	7	OMIM:266120	10	1	2	0	4	9	HP:0001081;HP:0001744;HP:0001972;HP:0020080	OMIM:266120	10	1	2	0	4	9	HP:0001081;HP:0001744;HP:0001972;HP:0020080
MONDO:0009993	embryonal rhabdomyosarcoma	direct	4	OMIM:268210	2	0	0	0	4	2	HP:0000520;HP:0000790;HP:0001824;HP:0031459	OMIM:268210	2	0	0	0	4	2	HP:0000520;HP:0000790;HP:0001824;HP:0031459
MONDO:0010013	schneckenbecken dysplasia	direct	18	OMIM:269250;ORPHA:3144	47	11	1	2	4	36	HP:0000474;HP:0001591;HP:0002089;HP:0002857	OMIM:269250;ORPHA:3144	47	11	1	2	4	36	HP:0000474;HP:0001591;HP:0002089;HP:0002857
MONDO:0010077	spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome	direct	15	OMIM:271665	65	8	0	3	4	57	HP:0000164;HP:0000278;HP:0000648;HP:0001156	OMIM:271665	65	8	0	3	4	57	HP:0000164;HP:0000278;HP:0000648;HP:0001156
MONDO:0010130	dihydropyrimidine dehydrogenase deficiency	direct	8	OMIM:274270;ORPHA:1675	75	4	0	0	4	71	HP:0001873;HP:0001875;HP:0002014;HP:0002352	OMIM:274270;ORPHA:1675	75	4	0	0	4	71	HP:0001873;HP:0001875;HP:0002014;HP:0002352
MONDO:0010193	Weaver syndrome	direct	16	OMIM:277590;ORPHA:3447	99	10	0	2	4	89	HP:0001027;HP:0001520;HP:0003006;HP:0007874	OMIM:277590;ORPHA:3447	99	10	0	2	4	89	HP:0001027;HP:0001520;HP:0003006;HP:0007874
MONDO:0010196	Werner syndrome	direct	26	OMIM:277700;ORPHA:902	84	17	2	3	4	67	HP:0001397;HP:0001956;HP:0003199;HP:0003635	OMIM:277700;ORPHA:902	84	17	2	3	4	67	HP:0001397;HP:0001956;HP:0003199;HP:0003635
MONDO:0010233	heterotopia, periventricular, X-linked dominant	direct	9	OMIM:300049	19	2	1	2	4	17	HP:0001382;HP:0004942;HP:0006530;HP:0012450	OMIM:300049	19	2	1	2	4	17	HP:0001382;HP:0004942;HP:0006530;HP:0012450
MONDO:0010434	synovial sarcoma	direct	5	OMIM:300813	2	0	0	1	4	2	HP:0001824;HP:0012531;HP:0031459;HP:0100526	OMIM:300813	2	0	0	1	4	2	HP:0001824;HP:0012531;HP:0031459;HP:0100526
MONDO:0010498	MEND syndrome	direct	18	OMIM:300960;ORPHA:401973	64	11	0	3	4	53	HP:0000365;HP:0002650;HP:0010655;HP:0030084	OMIM:300960;ORPHA:401973	64	11	0	3	4	53	HP:0000365;HP:0002650;HP:0010655;HP:0030084
MONDO:0010500	intellectual disability, X-linked, syndromic 33	direct	28	OMIM:300966;ORPHA:480907	94	23	0	1	4	71	HP:0000119;HP:0001176;HP:0001627;HP:0002180	OMIM:300966;ORPHA:480907	94	23	0	1	4	71	HP:0000119;HP:0001176;HP:0001627;HP:0002180
MONDO:0010585	X-linked hypohidrotic ectodermal dysplasia	direct	12	OMIM:305100;ORPHA:181	54	8	0	0	4	46	HP:0001097;HP:0001742;HP:0002205;HP:0030828	OMIM:305100;ORPHA:181	54	8	0	0	4	46	HP:0001097;HP:0001742;HP:0002205;HP:0030828
MONDO:0010592	focal dermal hypoplasia	direct	25	OMIM:305600;ORPHA:2092	160	14	0	7	4	146	HP:0000564;HP:0000691;HP:0001263;HP:0002895	OMIM:305600;ORPHA:2092	160	14	0	7	4	146	HP:0000564;HP:0000691;HP:0001263;HP:0002895
MONDO:0010661	severe X-linked intellectual disability, Gustavson type	direct	14	OMIM:309555;ORPHA:3078	40	6	2	2	4	34	HP:0001339;HP:0001999;HP:0004322;HP:0033725	OMIM:309555;ORPHA:3078	40	6	2	2	4	34	HP:0001339;HP:0001999;HP:0004322;HP:0033725
MONDO:0010771	histiocytoid cardiomyopathy	direct	15	ORPHA:137675	44	7	0	1	7	37	HP:0001290;HP:0001639;HP:0001644;HP:0001645;HP:0001664;HP:0001695;HP:0011664	OMIM:212080;ORPHA:137675	49	7	3	1	4	42	HP:0001290;HP:0001645;HP:0001664;HP:0001695
MONDO:0010896	pigment dispersion syndrome	direct	6	OMIM:600510	5	1	0	1	4	4	HP:0001123;HP:0007906;HP:0012631;HP:0012805	OMIM:600510	5	1	0	1	4	4	HP:0001123;HP:0007906;HP:0012631;HP:0012805
MONDO:0011107	congenital hypotrichosis with juvenile macular dystrophy	direct	10	OMIM:601553;ORPHA:1573	36	2	3	1	4	34	HP:0000512;HP:0000572;HP:0000603;HP:0007703	OMIM:601553;ORPHA:1573	36	2	3	1	4	34	HP:0000512;HP:0000572;HP:0000603;HP:0007703
MONDO:0011291	ALG6-congenital disorder of glycosylation 1C	direct	19	OMIM:603147;ORPHA:79320	42	10	5	0	4	32	HP:0000825;HP:0001892;HP:0003701;HP:0100704	OMIM:603147;ORPHA:79320	42	10	5	0	4	32	HP:0000825;HP:0001892;HP:0003701;HP:0100704
MONDO:0011350	autosomal dominant nonsyndromic hearing loss 17	direct	4	OMIM:603622	3	0	0	0	4	3	HP:0000408;HP:0002910;HP:0011476;HP:0040185	OMIM:603622	3	0	0	0	4	3	HP:0000408;HP:0002910;HP:0011476;HP:0040185
MONDO:0011369	hypercholesterolemia, autosomal dominant, 3	direct	9	OMIM:603776	6	4	1	0	4	2	HP:0001658;HP:0001677;HP:0001681;HP:0004950	OMIM:603776	6	4	1	0	4	2	HP:0001658;HP:0001677;HP:0001681;HP:0004950
MONDO:0011614	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	direct	17	OMIM:605911;ORPHA:35701	25	10	3	0	4	15	HP:0001254;HP:0002789;HP:0011900;HP:0031273	OMIM:605911;ORPHA:35701	25	10	3	0	4	15	HP:0001254;HP:0002789;HP:0011900;HP:0031273
MONDO:0011655	alveolar soft part sarcoma	direct	4	OMIM:606243	2	0	0	0	4	2	HP:0010622;HP:0031459;HP:0100006;HP:0100526	OMIM:606243	2	0	0	0	4	2	HP:0010622;HP:0031459;HP:0100006;HP:0100526
MONDO:0011669	hypotonia-cystinuria syndrome	direct	15	OMIM:606407;ORPHA:163690	42	9	1	1	4	33	HP:0000217;HP:0001513;HP:0001999;HP:0034323	OMIM:606407;ORPHA:163690	42	9	1	1	4	33	HP:0000217;HP:0001513;HP:0001999;HP:0034323
MONDO:0011764	autosomal dominant Parkinson disease 8	direct	10	OMIM:607060	14	6	0	0	4	8	HP:0001332;HP:0002861;HP:0031825;HP:5200291	OMIM:607060	14	6	0	0	4	8	HP:0001332;HP:0002861;HP:0031825;HP:5200291
MONDO:0011774	autosomal recessive nonsyndromic hearing loss 30	direct	5	OMIM:607101	3	1	0	0	4	2	HP:0001757;HP:0002321;HP:0008596;HP:0011476	OMIM:607101	3	1	0	0	4	2	HP:0001757;HP:0002321;HP:0008596;HP:0011476
MONDO:0011823	developmental malformations-deafness-dystonia syndrome	direct	11	OMIM:607371;ORPHA:79107	35	6	0	1	4	29	HP:0001300;HP:0001331;HP:0001999;HP:0007183	OMIM:607371;ORPHA:79107	35	6	0	1	4	29	HP:0001300;HP:0001331;HP:0001999;HP:0007183
MONDO:0011841	biotin-responsive basal ganglia disease	direct	15	OMIM:607483	41	9	0	2	4	32	HP:0001347;HP:0002329;HP:0003128;HP:0011448	OMIM:607483	41	9	0	2	4	32	HP:0001347;HP:0002329;HP:0003128;HP:0011448
MONDO:0011922	nonimmune chronic idiopathic neutropenia of adults	direct	7	OMIM:607847;ORPHA:2688	16	3	0	0	4	13	HP:0000938;HP:0001744;HP:0002257;HP:0005403	OMIM:607847;ORPHA:2688	16	3	0	0	4	13	HP:0000938;HP:0001744;HP:0002257;HP:0005403
MONDO:0012173	long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	direct	11	OMIM:609016;ORPHA:5	30	4	3	0	4	26	HP:0001254;HP:0003198;HP:0003201;HP:0003546	OMIM:609016;ORPHA:5	30	4	3	0	4	26	HP:0001254;HP:0003198;HP:0003201;HP:0003546
MONDO:0012252	rhabdoid tumor predisposition syndrome 1	direct	5	OMIM:609322	3	1	0	0	4	2	HP:0034401;HP:0034402;HP:0034557;HP:0100008	OMIM:609322	3	1	0	0	4	2	HP:0034401;HP:0034402;HP:0034557;HP:0100008
MONDO:0012269	chromosome 3q29 microdeletion syndrome	direct	17	OMIM:609425;ORPHA:65286	53	8	1	4	4	45	HP:0000388;HP:0000486;HP:0001321;HP:0002019	OMIM:609425;ORPHA:65286	53	8	1	4	4	45	HP:0000388;HP:0000486;HP:0001321;HP:0002019
MONDO:0012274	acromesomelic dysplasia 3	direct	11	OMIM:609441	25	6	0	1	4	19	HP:0000954;HP:0002827;HP:0002938;HP:0009487	OMIM:609441	25	6	0	1	4	19	HP:0000954;HP:0002827;HP:0002938;HP:0009487
MONDO:0012536	osteogenesis imperfecta type 7	direct	12	OMIM:610682	35	6	0	2	4	29	HP:0000541;HP:0000939;HP:0002691;HP:0011003	OMIM:610682	35	6	0	2	4	29	HP:0000541;HP:0000939;HP:0002691;HP:0011003
MONDO:0012549	autosomal recessive ataxia, Beauce type	direct	33	OMIM:610743;ORPHA:88644	54	26	1	2	4	28	HP:0001762;HP:0002015;HP:0002366;HP:0002804	OMIM:610743;ORPHA:88644	54	26	1	2	4	28	HP:0001762;HP:0002015;HP:0002366;HP:0002804
MONDO:0012557	cardiomyopathy-hypotonia-lactic acidosis syndrome	direct	9	OMIM:610773;ORPHA:91130	14	4	1	0	4	10	HP:0003236;HP:0003546;HP:0003701;HP:0003737	OMIM:610773;ORPHA:91130	14	4	1	0	4	10	HP:0003236;HP:0003546;HP:0003701;HP:0003737
MONDO:0012590	XFE progeroid syndrome	direct	10	OMIM:610965	37	4	2	0	4	33	HP:0001328;HP:0008897;HP:0009830;HP:0100578	OMIM:610965	37	4	2	0	4	33	HP:0001328;HP:0008897;HP:0009830;HP:0100578
MONDO:0012700	renal tubular acidosis, distal, 4, with hemolytic anemia	direct	12	OMIM:611590	17	7	0	1	4	10	HP:0000952;HP:0004444;HP:0004445;HP:0011423	OMIM:611590	17	7	0	1	4	10	HP:0000952;HP:0004444;HP:0004445;HP:0011423
MONDO:0012745	dilated cardiomyopathy 1Z	direct	7	OMIM:611879	7	3	0	0	4	4	HP:0004308;HP:0012664;HP:0025168;HP:4000141	OMIM:611879	7	3	0	0	4	4	HP:0004308;HP:0012664;HP:0025168;HP:4000141
MONDO:0012783	RFT1-congenital disorder of glycosylation	direct	19	OMIM:612015;ORPHA:244310	38	13	2	0	4	25	HP:0001321;HP:0001511;HP:0001999;HP:0008689	OMIM:612015;ORPHA:244310	38	13	2	0	4	25	HP:0001321;HP:0001511;HP:0001999;HP:0008689
MONDO:0012808	dilated cardiomyopathy 1AA	direct	9	OMIM:612158	16	4	1	0	4	12	HP:0001635;HP:0001685;HP:0001723;HP:0004308	OMIM:612158	16	4	1	0	4	12	HP:0001635;HP:0001685;HP:0001723;HP:0004308
MONDO:0013214	bile acid malabsorption, primary, 1	direct	7	OMIM:613291	8	2	1	0	4	6	HP:0002748;HP:0002901;HP:0003146;HP:0100512	OMIM:613291	8	2	1	0	4	6	HP:0002748;HP:0002901;HP:0003146;HP:0100512
MONDO:0013291	glycogen storage disease XV	direct	8	OMIM:613507;ORPHA:263297	28	2	2	0	4	26	HP:0002515;HP:0003202;HP:0003326;HP:0003546	OMIM:613507;ORPHA:263297	28	2	2	0	4	26	HP:0002515;HP:0003202;HP:0003326;HP:0003546
MONDO:0013515	osteogenesis imperfecta type 6	direct	8	OMIM:613982	18	3	0	1	4	15	HP:0002751;HP:0003330;HP:0004322;HP:0004349	OMIM:613982	18	3	0	1	4	15	HP:0002751;HP:0003330;HP:0004322;HP:0004349
MONDO:0013579	methylmalonate semialdehyde dehydrogenase deficiency	direct	12	OMIM:614105	40	7	0	1	4	33	HP:0001508;HP:0002020;HP:0002480;HP:0034661	OMIM:614105	40	7	0	1	4	33	HP:0001508;HP:0002020;HP:0002480;HP:0034661
MONDO:0013594	spinocerebellar ataxia type 36	direct	16	OMIM:614153;ORPHA:276198	39	9	1	2	4	30	HP:0000716;HP:0000741;HP:0002495;HP:0033051	OMIM:614153;ORPHA:276198	39	9	1	2	4	30	HP:0000716;HP:0000741;HP:0002495;HP:0033051
MONDO:0013772	Huppke-Brendel syndrome	direct	11	OMIM:614482	18	6	1	0	4	12	HP:0001249;HP:0001251;HP:0001321;HP:0001337	OMIM:614482	18	6	1	0	4	12	HP:0001249;HP:0001251;HP:0001321;HP:0001337
MONDO:0013815	bent bone dysplasia syndrome 1	direct	13	OMIM:614592;ORPHA:313855	33	6	0	3	4	27	HP:0001561;HP:0001622;HP:0002093;HP:0032078	OMIM:614592;ORPHA:313855	33	6	0	3	4	27	HP:0001561;HP:0001622;HP:0002093;HP:0032078
MONDO:0013925	methylmalonic acidemia with homocystinuria, type cblJ	direct	9	OMIM:614857	38	5	0	0	4	33	HP:0000953;HP:0001250;HP:0001889;HP:0002027	OMIM:614857	38	5	0	0	4	33	HP:0000953;HP:0001250;HP:0001889;HP:0002027
MONDO:0013960	sinoatrial node dysfunction and deafness	direct	8	OMIM:614896	7	2	2	0	4	5	HP:0002094;HP:0011702;HP:0012378;HP:0031972	OMIM:614896	7	2	2	0	4	5	HP:0002094;HP:0011702;HP:0012378;HP:0031972
MONDO:0014081	severe combined immunodeficiency due to CARD11 deficiency	direct	7	OMIM:615206	10	2	0	1	4	8	HP:0002583;HP:0002841;HP:0004429;HP:0006515	OMIM:615206	10	2	0	1	4	8	HP:0002583;HP:0002841;HP:0004429;HP:0006515
MONDO:0014103	hypogonadotropic hypogonadism 18 with or without anosmia	direct	8	OMIM:615267	9	2	2	0	4	7	HP:0000028;HP:0000054;HP:0000823;HP:0040327	OMIM:615267	9	2	2	0	4	7	HP:0000028;HP:0000054;HP:0000823;HP:0040327
MONDO:0014262	Rienhoff syndrome	direct	25	OMIM:615582	58	16	0	5	4	42	HP:0001633;HP:0005112;HP:0005684;HP:0008462	OMIM:615582	58	16	0	5	4	42	HP:0001633;HP:0005112;HP:0005684;HP:0008462
MONDO:0014278	immunodeficiency 18	direct	9	OMIM:615615	18	0	2	3	4	18	HP:0001508;HP:0002014;HP:0005390;HP:0009098	OMIM:615615	18	0	2	3	4	18	HP:0001508;HP:0002014;HP:0005390;HP:0009098
MONDO:0014306	deficiency of adenosine deaminase 2	direct	16	OMIM:615688	64	10	2	0	4	54	HP:0001873;HP:0001875;HP:0002170;HP:0012410	OMIM:615688	64	10	2	0	4	54	HP:0001873;HP:0001875;HP:0002170;HP:0012410
MONDO:0014328	developmental and epileptic encephalopathy, 19	direct	12	OMIM:615744	34	5	1	2	4	29	HP:0000717;HP:0001251;HP:0007018;HP:0011097	OMIM:615744	34	5	1	2	4	29	HP:0000717;HP:0001251;HP:0007018;HP:0011097
MONDO:0014368	tumor predisposition syndrome 3	direct	5	OMIM:615848	5	0	1	0	4	5	HP:0002890;HP:0005550;HP:0009733;HP:0200058	OMIM:615848	5	0	1	0	4	5	HP:0002890;HP:0005550;HP:0009733;HP:0200058
MONDO:0014391	combined immunodeficiency due to CTPS1 deficiency	direct	7	OMIM:615897	18	3	0	0	4	15	HP:0002028;HP:0002718;HP:0002841;HP:0040218	OMIM:615897	18	3	0	0	4	15	HP:0002028;HP:0002718;HP:0002841;HP:0040218
MONDO:0014465	primary ciliary dyskinesia 30	direct	16	OMIM:616037	19	9	2	1	4	10	HP:0000365;HP:0003251;HP:0008222;HP:0012206	OMIM:616037	19	9	2	1	4	10	HP:0000365;HP:0003251;HP:0008222;HP:0012206
MONDO:0014467	Charcot-Marie-Tooth disease recessive intermediate D	direct	10	OMIM:616039	11	5	0	1	4	6	HP:0001263;HP:0002151;HP:0002460;HP:0003693	OMIM:616039	11	5	0	1	4	6	HP:0001263;HP:0002151;HP:0002460;HP:0003693
MONDO:0014505	developmental and epileptic encephalopathy, 27	direct	13	OMIM:616139	24	9	0	0	4	15	HP:0000729;HP:0002487;HP:0002536;HP:0100704	OMIM:616139	24	9	0	0	4	15	HP:0000729;HP:0002487;HP:0002536;HP:0100704
MONDO:0014564	congenital bile acid synthesis defect 5	direct	13	OMIM:616278	16	5	2	2	4	11	HP:0000989;HP:0001394;HP:0001876;HP:0002040	OMIM:616278	16	5	2	2	4	11	HP:0000989;HP:0001394;HP:0001876;HP:0002040
MONDO:0014590	congenital myasthenic syndrome 18	direct	5	OMIM:616330	15	0	0	1	4	15	HP:0001249;HP:0002059;HP:0100704;HP:0200134	OMIM:616330	15	0	0	1	4	15	HP:0001249;HP:0002059;HP:0100704;HP:0200134
MONDO:0014633	epilepsy with myoclonic atonic seizures	direct	18	OMIM:616421;ORPHA:1942	50	12	0	2	4	38	HP:0000733;HP:0002014;HP:0002019;HP:0002376	OMIM:616421;ORPHA:1942	50	12	0	2	4	38	HP:0000733;HP:0002014;HP:0002019;HP:0002376
MONDO:0014686	short stature, microcephaly, and endocrine dysfunction	direct	10	OMIM:616541	57	4	0	2	4	53	HP:0000815;HP:0002664;HP:0003220;HP:0011133	OMIM:616541	57	4	0	2	4	53	HP:0000815;HP:0002664;HP:0003220;HP:0011133
MONDO:0014744	acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome	direct	11	OMIM:616719;ORPHA:466794	39	5	0	2	4	34	HP:0001396;HP:0002650;HP:0004322;HP:0034445	OMIM:616719;ORPHA:466794	39	5	0	2	4	34	HP:0001396;HP:0002650;HP:0004322;HP:0034445
MONDO:0014790	TMEM199-CDG	direct	12	OMIM:616829	23	8	0	0	4	15	HP:0000486;HP:0001249;HP:0001394;HP:0003256	OMIM:616829	23	8	0	0	4	15	HP:0000486;HP:0001249;HP:0001394;HP:0003256
MONDO:0014801	even-plus syndrome	direct	16	OMIM:616854	31	11	0	1	4	20	HP:0001250;HP:0001511;HP:0002134;HP:0004646	OMIM:616854	31	11	0	1	4	20	HP:0001250;HP:0001511;HP:0002134;HP:0004646
MONDO:0014830	platelet-type bleeding disorder 20	direct	8	OMIM:616913	5	3	1	0	4	2	HP:0003540;HP:0004846;HP:0030398;HP:0033535	OMIM:616913	5	3	1	0	4	2	HP:0003540;HP:0004846;HP:0030398;HP:0033535
MONDO:0015274	chronic beryllium disease	direct	12	ORPHA:133	19	5	2	1	4	14	HP:0012220;HP:0030250;HP:0100749;HP:0100759	ORPHA:133	19	5	2	1	4	14	HP:0012220;HP:0030250;HP:0100749;HP:0100759
MONDO:0015436	ring chromosome 20	direct	9	ORPHA:1444	12	5	0	0	4	7	HP:0000738;HP:0002384;HP:0032678;HP:0032739	ORPHA:1444	12	5	0	0	4	7	HP:0000738;HP:0002384;HP:0032678;HP:0032739
MONDO:0016068	fibrochondrogenesis	direct	16	ORPHA:2021	29	4	4	0	8	25	HP:0000347;HP:0000518;HP:0001263;HP:0001538;HP:0003196;HP:0010297;HP:0011003;HP:0011800	OMIM:228520;OMIM:614524;ORPHA:2021	75	11	1	0	4	64	HP:0000518;HP:0001263;HP:0010297;HP:0011003
MONDO:0016472	dracunculiasis	direct	6	ORPHA:231	15	2	0	0	4	13	HP:0001288;HP:0002829;HP:0003326;HP:0012531	ORPHA:231	15	2	0	0	4	13	HP:0001288;HP:0002829;HP:0003326;HP:0012531
MONDO:0016817	Meier-Gorlin syndrome	direct	35	ORPHA:2554	49	13	2	1	19	36	HP:0000750;HP:0000824;HP:0001270;HP:0001601;HP:0001622;HP:0001629;HP:0001643;HP:0001763;HP:0001875;HP:0002020;HP:0002097;HP:0002205;HP:0002779;HP:0002780;HP:0002816;HP:0003065;HP:0003187;HP:0005001;HP:0009125	OMIM:224690;OMIM:613800;OMIM:613803;OMIM:613804;OMIM:613805;OMIM:616835;OMIM:617063;OMIM:617564;OMIM:621512;OMIM:621528;ORPHA:2554	254	30	0	1	4	224	HP:0001643;HP:0001763;HP:0005001;HP:0009125
MONDO:0017123	arthrogryposis-renal dysfunction-cholestasis syndrome	direct	26	ORPHA:2697	31	8	4	3	11	23	HP:0000952;HP:0000989;HP:0001263;HP:0001394;HP:0001892;HP:0001944;HP:0001999;HP:0003076;HP:0003355;HP:0011877;HP:0100806	OMIM:208085;OMIM:613404;ORPHA:2697	66	17	3	2	4	49	HP:0001394;HP:0001999;HP:0011877;HP:0100806
MONDO:0017180	10q22.3q23.3 microduplication syndrome	direct	11	ORPHA:276422	21	4	3	0	4	17	HP:0000219;HP:0000750;HP:0001270;HP:0001999	ORPHA:276422	21	4	3	0	4	17	HP:0000219;HP:0000750;HP:0001270;HP:0001999
MONDO:0017194	Blount disease	direct	7	ORPHA:2768	5	2	1	0	4	3	HP:0001513;HP:0003088;HP:0034372;HP:0100559	OMIM:188700;OMIM:259200;ORPHA:2768	11	3	0	0	4	8	HP:0001513;HP:0003088;HP:0034372;HP:0100559
MONDO:0017923	multiple synostoses syndrome	direct	8	ORPHA:3237	10	4	0	0	4	6	HP:0002948;HP:0003041;HP:0009702;HP:0100264	OMIM:186500;OMIM:610017;OMIM:612961;OMIM:617898;ORPHA:3237	79	8	0	0	0	71	
MONDO:0018020	mercury poisoning	direct	4	ORPHA:330021	21	0	0	0	4	21	HP:0001133;HP:0001251;HP:0001260;HP:0003474	ORPHA:330021	21	0	0	0	4	21	HP:0001133;HP:0001251;HP:0001260;HP:0003474
MONDO:0018072	persistent truncus arteriosus	direct	12	ORPHA:3384	36	7	1	0	4	29	HP:0001508;HP:0001635;HP:0002092;HP:0002901	ORPHA:3384	36	7	1	0	4	29	HP:0001508;HP:0001635;HP:0002092;HP:0002901
MONDO:0018150	Gaucher disease	direct	27	ORPHA:355	93	18	4	1	4	75	HP:0001263;HP:0001508;HP:0002191;HP:0007817	OMIM:230800;OMIM:230900;OMIM:231000;OMIM:231005;OMIM:608013;ORPHA:2072;ORPHA:355;ORPHA:77259;ORPHA:77260;ORPHA:77261;ORPHA:85212	235	24	3	0	0	211	
MONDO:0018274	GM3 synthase deficiency	direct	17	OMIM:609056	26	9	0	4	4	17	HP:0001249;HP:0001510;HP:0001999;HP:0002650	OMIM:609056	26	9	0	4	4	17	HP:0001249;HP:0001510;HP:0001999;HP:0002650
MONDO:0018304	Schnitzler syndrome	direct	13	ORPHA:37748	21	8	1	0	4	13	HP:0001701;HP:0001824;HP:0011227;HP:0020196	ORPHA:37748	21	8	1	0	4	13	HP:0001701;HP:0001824;HP:0011227;HP:0020196
MONDO:0018763	tubulinopathy-associated dysgyria	direct	19	ORPHA:467166	24	9	2	4	4	15	HP:0001249;HP:0001332;HP:0002134;HP:0007015	ORPHA:467166	24	9	2	4	4	15	HP:0001249;HP:0001332;HP:0002134;HP:0007015
MONDO:0018881	myelodysplastic syndrome	direct	5	OMIM:614286	2	1	0	0	4	1	HP:0001873;HP:0001875;HP:0001903;HP:0004864	OMIM:153550;OMIM:252270;OMIM:614286;OMIM:619041;ORPHA:508542;ORPHA:75564;ORPHA:86839;ORPHA:86841;ORPHA:98826	95	4	1	0	0	91	
MONDO:0018950	3-methylcrotonyl-CoA carboxylase deficiency	direct	6	ORPHA:6	10	2	0	0	4	8	HP:0001250;HP:0001259;HP:0001942;HP:0002013	OMIM:210200;OMIM:210210;ORPHA:6	75	6	0	0	0	69	
MONDO:0019015	omphalocele	direct	7	ORPHA:660	8	2	0	1	4	6	HP:0001627;HP:0001629;HP:0002092;HP:0002093	OMIM:164750;ORPHA:660	10	2	0	1	4	8	HP:0001627;HP:0001629;HP:0002092;HP:0002093
MONDO:0019100	neuromyelitis optica	direct	11	ORPHA:71211	17	4	1	2	4	13	HP:0000716;HP:0001257;HP:0001324;HP:0003394	ORPHA:71211	17	4	1	2	4	13	HP:0000716;HP:0001257;HP:0001324;HP:0003394
MONDO:0019108	silent sinus syndrome	direct	8	ORPHA:71276	3	1	3	0	4	2	HP:0000272;HP:0000324;HP:0006784;HP:0034494	ORPHA:71276	3	1	3	0	4	2	HP:0000272;HP:0000324;HP:0006784;HP:0034494
MONDO:0019187	Axenfeld-Rieger syndrome	direct	12	ORPHA:782	21	4	2	1	5	17	HP:0001263;HP:0001290;HP:0002119;HP:0009918;HP:0030890	OMIM:180500;OMIM:601499;OMIM:602482;ORPHA:782	55	7	0	1	4	48	HP:0001263;HP:0001290;HP:0002119;HP:0030890
MONDO:0019349	Sotos syndrome	direct	52	OMIM:117550;ORPHA:821	194	40	3	5	4	154	HP:0002126;HP:0002360;HP:0032398;HP:0034396	OMIM:117550;ORPHA:821	194	40	3	5	4	154	HP:0002126;HP:0002360;HP:0032398;HP:0034396
MONDO:0019632	Lyme disease	direct	9	ORPHA:91546	24	4	1	0	4	20	HP:0000726;HP:0012486;HP:0031180;HP:0033804	ORPHA:91546	24	4	1	0	4	20	HP:0000726;HP:0012486;HP:0031180;HP:0033804
MONDO:0019944	Eisenmenger syndrome	direct	17	ORPHA:97214	58	11	2	0	4	47	HP:0000093;HP:0001645;HP:0001899;HP:0001997	ORPHA:97214	58	11	2	0	4	47	HP:0000093;HP:0001645;HP:0001899;HP:0001997
MONDO:0020487	Pontiac fever	direct	8	ORPHA:99748	5	4	0	0	4	1	HP:0002018;HP:0025143;HP:0033834;HP:0100749	ORPHA:99748	5	4	0	0	4	1	HP:0002018;HP:0025143;HP:0033834;HP:0100749
MONDO:0021035	alopecia-intellectual disability syndrome 1	direct	6	OMIM:203650	4	0	1	1	4	4	HP:0000561;HP:0002221;HP:0002223;HP:0002555	OMIM:203650	4	0	1	1	4	4	HP:0000561;HP:0002221;HP:0002223;HP:0002555
MONDO:0024266	patent ductus arteriosus 3	direct	5	OMIM:617039	2	1	0	0	4	1	HP:0001635;HP:0001680;HP:0002092;HP:0030148	OMIM:617039	2	1	0	0	4	1	HP:0001635;HP:0001680;HP:0002092;HP:0030148
MONDO:0024455	autosomal dominant Robinow syndrome 1	direct	15	OMIM:180700	71	11	0	0	4	60	HP:0000668;HP:0001627;HP:0002650;HP:0002937	OMIM:180700	71	11	0	0	4	60	HP:0000668;HP:0001627;HP:0002650;HP:0002937
MONDO:0030059	developmental and epileptic encephalopathy, 87	direct	6	OMIM:618916	22	1	0	1	4	21	HP:0000729;HP:0001252;HP:0001999;HP:0200134	OMIM:618916	22	1	0	1	4	21	HP:0000729;HP:0001252;HP:0001999;HP:0200134
MONDO:0030266	immunodeficiency 80 with or without congenital cardiomyopathy	direct	17	OMIM:619313	21	12	0	1	4	9	HP:0001888;HP:0002850;HP:0004315;HP:0031410	OMIM:619313	21	12	0	1	4	9	HP:0001888;HP:0002850;HP:0004315;HP:0031410
MONDO:0030898	immunodeficiency 76	direct	12	OMIM:619164	15	6	1	1	4	9	HP:0001508;HP:0002841;HP:0004313;HP:0005387	OMIM:619164	15	6	1	1	4	9	HP:0001508;HP:0002841;HP:0004313;HP:0005387
MONDO:0032572	cardiac, facial, and digital anomalies with developmental delay	direct	19	OMIM:618164	74	11	0	4	4	63	HP:0001999;HP:0002360;HP:0002870;HP:0410263	OMIM:618164	74	11	0	4	4	63	HP:0001999;HP:0002360;HP:0002870;HP:0410263
MONDO:0032600	Snijders Blok-Campeau syndrome	direct	21	OMIM:618205	46	13	0	4	4	33	HP:0000219;HP:0000307;HP:0000668;HP:0007021	OMIM:618205	46	13	0	4	4	33	HP:0000219;HP:0000307;HP:0000668;HP:0007021
MONDO:0032611	mitochondrial complex I deficiency, nuclear type 6	direct	8	OMIM:618228	32	2	1	1	4	30	HP:0001298;HP:0001397;HP:0002352;HP:0008872	OMIM:618228	32	2	1	1	4	30	HP:0001298;HP:0001397;HP:0002352;HP:0008872
MONDO:0032625	mitochondrial complex I deficiency, nuclear type 21	direct	14	OMIM:618242	22	6	4	0	4	16	HP:0001337;HP:0002134;HP:0025797;HP:0100543	OMIM:618242	22	6	4	0	4	16	HP:0001337;HP:0002134;HP:0025797;HP:0100543
MONDO:0032687	intellectual developmental disorder with abnormal behavior, microcephaly, and short stature	direct	20	OMIM:618342	50	11	2	3	4	39	HP:0000729;HP:0001250;HP:0002149;HP:0100716	OMIM:618342	50	11	2	3	4	39	HP:0000729;HP:0001250;HP:0002149;HP:0100716
MONDO:0032723	immunodeficiency 60	direct	14	OMIM:618394	19	8	1	1	4	11	HP:0002716;HP:0005403;HP:0031382;HP:0032140	OMIM:618394	19	8	1	1	4	11	HP:0002716;HP:0005403;HP:0031382;HP:0032140
MONDO:0032782	immunodeficiency 63 with lymphoproliferation and autoimmunity	direct	11	OMIM:618495	19	4	1	2	4	15	HP:0000964;HP:0002583;HP:0002878;HP:0031692	OMIM:618495	19	4	1	2	4	15	HP:0000964;HP:0002583;HP:0002878;HP:0031692
MONDO:0032831	pontocerebellar hypoplasia, type 13	direct	12	OMIM:618606	40	3	1	4	4	37	HP:0000365;HP:0001392;HP:0001999;HP:0002015	OMIM:618606	40	3	1	4	4	37	HP:0000365;HP:0001392;HP:0001999;HP:0002015
MONDO:0032835	spondyloepiphyseal dysplasia, nishimura type	direct	15	OMIM:618618	31	9	0	2	4	22	HP:0000926;HP:0001601;HP:0003088;HP:0030799	OMIM:618618	31	9	0	2	4	22	HP:0000926;HP:0001601;HP:0003088;HP:0030799
MONDO:0032846	osteogenesis imperfecta, type 20	direct	7	OMIM:618644	31	1	0	2	4	30	HP:0000677;HP:0002757;HP:0004349;HP:0006487	OMIM:618644	31	1	0	2	4	30	HP:0000677;HP:0002757;HP:0004349;HP:0006487
MONDO:0032905	spastic paraplegia 81, autosomal recessive	direct	15	OMIM:618768	22	8	1	2	4	14	HP:0001250;HP:0001272;HP:0002059;HP:0006808	OMIM:618768	22	8	1	2	4	14	HP:0001250;HP:0001272;HP:0002059;HP:0006808
MONDO:0032922	Beck-Fahrner syndrome	direct	16	OMIM:618798	40	8	1	3	4	32	HP:0000405;HP:0000407;HP:0000539;HP:0001548	OMIM:618798	40	8	1	3	4	32	HP:0000405;HP:0000407;HP:0000539;HP:0001548
MONDO:0033135	Charcot-Marie-Tooth disease, demyelinating, type 1G	direct	13	OMIM:618279	23	7	1	1	4	16	HP:0002174;HP:0003431;HP:0007078;HP:0009005	OMIM:618279	23	7	1	1	4	16	HP:0002174;HP:0003431;HP:0007078;HP:0009005
MONDO:0033373	developmental and epileptic encephalopathy, 64	direct	13	OMIM:618004	45	5	3	1	4	40	HP:0001251;HP:0007166;HP:0012194;HP:0020174	OMIM:618004	45	5	3	1	4	40	HP:0001251;HP:0007166;HP:0012194;HP:0020174
MONDO:0033667	Delpire-McNeill syndrome	direct	11	OMIM:619083	16	6	0	1	4	10	HP:0001249;HP:0001250;HP:0008568;HP:0011968	OMIM:619083	16	6	0	1	4	10	HP:0001249;HP:0001250;HP:0008568;HP:0011968
MONDO:0044696	early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome	direct	29	OMIM:617669;ORPHA:500144	43	22	2	1	4	21	HP:0000238;HP:0001272;HP:0002079;HP:0012704	OMIM:617669;ORPHA:500144	43	22	2	1	4	21	HP:0000238;HP:0001272;HP:0002079;HP:0012704
MONDO:0044720	cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome	direct	13	OMIM:614575;ORPHA:504476	41	6	2	1	4	35	HP:0002015;HP:0002317;HP:0010871;HP:0034773	OMIM:614575;ORPHA:504476	41	6	2	1	4	35	HP:0002015;HP:0002317;HP:0010871;HP:0034773
MONDO:0044725	combined immunodeficiency due to GINS1 deficiency	direct	10	OMIM:617827	18	5	1	0	4	13	HP:0000501;HP:0002243;HP:0040218;HP:5210426	OMIM:617827	18	5	1	0	4	13	HP:0000501;HP:0002243;HP:0040218;HP:5210426
MONDO:0044776	premature ovarian failure 10	direct	8	OMIM:612885	9	4	0	0	4	5	HP:0000815;HP:0003251;HP:0040012;HP:0100728	OMIM:612885	9	4	0	0	4	5	HP:0000815;HP:0003251;HP:0040012;HP:0100728
MONDO:0100083	hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	direct	10	OMIM:601399	21	6	0	0	4	15	HP:0000132;HP:0000964;HP:0006727;HP:0033535	OMIM:601399	21	6	0	0	4	15	HP:0000132;HP:0000964;HP:0006727;HP:0033535
MONDO:0100450	CAPN5-related vitreoretinopathy	direct	8	OMIM:193235	10	3	0	1	4	7	HP:0000407;HP:0000580;HP:0000667;HP:0001263	OMIM:193235	10	3	0	1	4	7	HP:0000407;HP:0000580;HP:0000667;HP:0001263
MONDO:0100522	hypotrichosis 4	direct	9	OMIM:146550	8	4	1	0	4	4	HP:0002208;HP:0003328;HP:0003777;HP:0006304	OMIM:146550	8	4	1	0	4	4	HP:0002208;HP:0003328;HP:0003777;HP:0006304
MONDO:0859003	PAICS deficiency	direct	11	OMIM:619859	24	3	0	4	4	21	HP:0001263;HP:0001627;HP:0002089;HP:0002376	OMIM:619859	24	3	0	4	4	21	HP:0001263;HP:0001627;HP:0002089;HP:0002376
MONDO:0859164	osteootohepatoenteric syndrome	direct	7	OMIM:619377	32	1	2	0	4	31	HP:0001256;HP:0001622;HP:0002028;HP:0002756	OMIM:619377	32	1	2	0	4	31	HP:0001256;HP:0001622;HP:0002028;HP:0002756
MONDO:0859236	neurodevelopmental disorder with neuromuscular and skeletal abnormalities	direct	25	OMIM:619833	62	19	0	2	4	43	HP:0001257;HP:0001324;HP:0003236;HP:0003477	OMIM:619833	62	19	0	2	4	43	HP:0001257;HP:0001324;HP:0003236;HP:0003477
MONDO:0859358	cardiomyopathy, dilated, 2H	direct	8	OMIM:620203	9	3	0	1	4	6	HP:0001644;HP:0001695;HP:0006677;HP:0040412	OMIM:620203	9	3	0	1	4	6	HP:0001644;HP:0001695;HP:0006677;HP:0040412
MONDO:0859372	cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies	direct	15	OMIM:620236	13	10	0	1	4	3	HP:0001279;HP:0001635;HP:0004308;HP:0034835	OMIM:620236	13	10	0	1	4	3	HP:0001279;HP:0001635;HP:0004308;HP:0034835
MONDO:0859529	amyotrophic lateral sclerosis 27, juvenile	direct	14	OMIM:620285	30	7	0	3	4	23	HP:0001260;HP:0001508;HP:0002015;HP:0003444	OMIM:620285	30	7	0	3	4	23	HP:0001260;HP:0001508;HP:0002015;HP:0003444
MONDO:0957308	spastic paraplegia 90A, autosomal dominant	direct	9	OMIM:620416	22	3	2	0	4	19	HP:0000011;HP:0001263;HP:0001268;HP:0002540	OMIM:620416	22	3	2	0	4	19	HP:0000011;HP:0001263;HP:0001268;HP:0002540
MONDO:0975705	otofacial neurodevelopmental syndrome	direct	20	OMIM:620910	33	14	0	2	4	19	HP:0000750;HP:0001263;HP:0001627;HP:0012799	OMIM:620910	33	14	0	2	4	19	HP:0000750;HP:0001263;HP:0001627;HP:0012799
MONDO:0001134	essential hypertension	subtree_only	4									OMIM:145500	4	0	0	0	4	4	HP:0000083;HP:0000822;HP:0001712;HP:0002315
MONDO:0001341	selective IgA deficiency disease	subtree_only	9									OMIM:137100;OMIM:269650;OMIM:609529	14	4	1	0	4	10	HP:0002110;HP:0002608;HP:0012393;HP:0100845
MONDO:0002271	colon adenocarcinoma	subtree_only	6									ORPHA:26790	12	2	0	0	4	10	HP:0000952;HP:0001903;HP:0002573;HP:0012378
MONDO:0004985	bipolar disorder	subtree_only	6									OMIM:125480;OMIM:309200	6	2	0	0	4	4	HP:0000709;HP:0000739;HP:0002360;HP:0100543
MONDO:0005252	heart failure	subtree_only	6									ORPHA:275766	16	1	1	0	4	15	HP:0001640;HP:0003546;HP:0012378;HP:0012398
MONDO:0005258	autism spectrum disorder	subtree_only	12									OMIM:209850	15	8	0	0	4	7	HP:0002360;HP:0007018;HP:0012719;HP:5200046
MONDO:0005383	panic disorder	subtree_only	6									OMIM:167870	2	1	1	0	4	1	HP:0000716;HP:0000756;HP:0001962;HP:0002094
MONDO:0005775	G6PD deficiency	subtree_only	8									OMIM:300908	23	3	0	1	4	20	HP:0002094;HP:0003265;HP:0012378;HP:0040319
MONDO:0009832	pancreatic agenesis	subtree_only	10									OMIM:260370;OMIM:615935;OMIM:620991	24	4	0	2	4	20	HP:0000851;HP:0001627;HP:0002566;HP:0012440
MONDO:0015643	photosensitive epilepsy	subtree_only	5									OMIM:132100	3	1	0	0	4	2	HP:0001327;HP:0007207;HP:0020216;HP:0032678
MONDO:0016218	Guillain-Barre syndrome	subtree_only	8									OMIM:139393;ORPHA:231445;ORPHA:98916	22	2	0	2	4	20	HP:0002093;HP:0003401;HP:0006824;HP:0012332
MONDO:0017069	spina bifida cystica	subtree_only	11									OMIM:207950;ORPHA:268810	40	5	2	0	4	35	HP:0000011;HP:0001249;HP:0001762;HP:0002650
MONDO:0017896	familial nonmedullary thyroid carcinoma	subtree_only	12									OMIM:188470;OMIM:188550;OMIM:606240;OMIM:616534;OMIM:616535;ORPHA:319487;ORPHA:97290	25	5	1	2	4	20	HP:0000872;HP:0006781;HP:0025388;HP:0100526
MONDO:0019086	carcinoma of esophagus	subtree_only	4									ORPHA:99976;ORPHA:99977	11	0	0	0	4	11	HP:0001824;HP:0002015;HP:0002248;HP:0032043
MONDO:0019218	inborn disorder of bile acid synthesis	subtree_only	11									OMIM:213700;OMIM:607748;OMIM:619256;ORPHA:209902;ORPHA:909	140	5	2	0	4	135	HP:0000510;HP:0001394;HP:0001892;HP:0002908
MONDO:0020491	subcortical band heterotopia	subtree_only	14									OMIM:300067;OMIM:600348;ORPHA:2148	59	6	3	1	4	53	HP:0000486;HP:0000505;HP:0000648;HP:0001355
MONDO:0100443	RDH5-related retinopathy	subtree_only	7									OMIM:136880;ORPHA:52427	23	3	0	0	4	20	HP:0007663;HP:0008020;HP:0011504;HP:0030469
MONDO:0100453	GUCY2D-related recessive retinopathy	subtree_only	10									OMIM:204000;OMIM:618555	23	4	0	2	4	19	HP:0000529;HP:0000540;HP:0000603;HP:0007401
MONDO:0800401	CERKL-related retinopathy	subtree_only	6									OMIM:608380	7	0	1	1	4	7	HP:0000533;HP:0000662;HP:0007401;HP:0007737
MONDO:1060211	NR5A1-related sex development disorder	subtree_only	12									OMIM:612964;OMIM:612965;OMIM:613957;OMIM:617480	23	7	0	1	4	16	HP:0000846;HP:0008730;HP:0010788;HP:0034546
MONDO:0000050	isolated congenital growth hormone deficiency	direct	7	ORPHA:631	19	4	0	0	3	15	HP:0000054;HP:0010627;HP:0034323	OMIM:173100;OMIM:262400;OMIM:262650;OMIM:307200;OMIM:612781;OMIM:618157;OMIM:618160;ORPHA:631	61	7	0	0	0	54	
MONDO:0000455	cone dystrophy	direct	7	ORPHA:1871	5	3	1	0	3	2	HP:0000548;HP:0000639;HP:0000662	OMIM:180020;OMIM:602093;OMIM:610356;OMIM:610478;OMIM:613093;ORPHA:1871	27	7	0	0	0	20	
MONDO:0000463	Ochoa syndrome	direct	15	ORPHA:2704	11	11	0	0	4	0	HP:0000011;HP:0000021;HP:0030001;HP:0034979	OMIM:236730;OMIM:615112;ORPHA:2704	25	12	0	0	3	13	HP:0000011;HP:0030001;HP:0034979
MONDO:0000863	myopathy, lactic acidosis, and sideroblastic anemia	direct	22	ORPHA:2598	19	19	0	0	3	0	HP:0001639;HP:0002093;HP:0003546	OMIM:600462;OMIM:613561;ORPHA:2598	63	21	0	1	0	42	
MONDO:0002457	Treacher-Collins syndrome	direct	17	ORPHA:861	68	11	1	1	4	57	HP:0000539;HP:0002781;HP:0002870;HP:0007776	OMIM:154500;OMIM:248390;OMIM:613717;OMIM:618939;ORPHA:861	98	13	0	1	3	85	HP:0000539;HP:0002781;HP:0002870
MONDO:0004980	atopic eczema	direct	13	OMIM:603165	19	8	1	1	3	11	HP:0000607;HP:0002360;HP:0500093	OMIM:603165	19	8	1	1	3	11	HP:0000607;HP:0002360;HP:0500093
MONDO:0005136	malaria	direct	10	ORPHA:673	16	5	2	0	3	11	HP:0001250;HP:0001744;HP:0025143	ORPHA:673	16	5	2	0	3	11	HP:0001250;HP:0001744;HP:0025143
MONDO:0005706	coccidioidomycosis	direct	14	ORPHA:228123	76	7	3	1	3	69	HP:0001824;HP:0002829;HP:0030166	ORPHA:228123	76	7	3	1	3	69	HP:0001824;HP:0002829;HP:0030166
MONDO:0007041	Apert syndrome	direct	21	OMIM:101200;ORPHA:87	110	15	2	1	3	95	HP:0000508;HP:0002167;HP:0002870	OMIM:101200;ORPHA:87	110	15	2	1	3	95	HP:0000508;HP:0002167;HP:0002870
MONDO:0007099	familial visceral amyloidosis	direct	12	OMIM:105200;ORPHA:85450	52	6	2	1	3	46	HP:0000103;HP:0012280;HP:0030843	OMIM:105200;ORPHA:85450	52	6	2	1	3	46	HP:0000103;HP:0012280;HP:0030843
MONDO:0007205	diaphyseal medullary stenosis-bone malignancy syndrome	direct	13	OMIM:112250	24	9	0	1	3	15	HP:0002653;HP:0010885;HP:0032537	OMIM:112250	24	9	0	1	3	15	HP:0002653;HP:0010885;HP:0032537
MONDO:0007216	brachydactyly type A2	direct	11	OMIM:112600;ORPHA:93396	19	7	1	0	3	12	HP:0001885;HP:0005709;HP:0012385	OMIM:112600;ORPHA:93396	19	7	1	0	3	12	HP:0001885;HP:0005709;HP:0012385
MONDO:0007220	brachydactyly type B1	direct	9	OMIM:113000	22	5	0	1	3	17	HP:0001204;HP:0002164;HP:0010055	OMIM:113000	22	5	0	1	3	17	HP:0001204;HP:0002164;HP:0010055
MONDO:0007223	brachydactyly type E1	direct	8	OMIM:113300	10	4	1	0	3	6	HP:0003502;HP:0009650;HP:0009882	OMIM:113300	10	4	1	0	3	6	HP:0003502;HP:0009650;HP:0009882
MONDO:0007235	branchiooculofacial syndrome	direct	22	OMIM:113620;ORPHA:1297	95	18	0	1	3	77	HP:0001627;HP:0009911;HP:0011333	OMIM:113620;ORPHA:1297	95	18	0	1	3	77	HP:0001627;HP:0009911;HP:0011333
MONDO:0007250	camptodactyly of fingers	direct	5	OMIM:114200	5	0	0	2	3	5	HP:0001166;HP:0001387;HP:0005684	OMIM:114200	5	0	0	2	3	5	HP:0001166;HP:0001387;HP:0005684
MONDO:0007251	campomelic dysplasia	direct	18	OMIM:114290;ORPHA:140	109	14	1	0	3	95	HP:0000201;HP:0001591;HP:0008730	OMIM:114290;ORPHA:140	109	14	1	0	3	95	HP:0000201;HP:0001591;HP:0008730
MONDO:0007293	leukocyte adhesion deficiency 1	direct	10	OMIM:116920	19	6	1	0	3	13	HP:0002960;HP:0006357;HP:0032455	OMIM:116920	19	6	1	0	3	13	HP:0002960;HP:0006357;HP:0032455
MONDO:0007345	aorta coarctation	direct	6	OMIM:120000;ORPHA:1457	19	3	0	0	3	16	HP:0001712;HP:0007029;HP:0030149	OMIM:120000;ORPHA:1457	19	3	0	0	3	16	HP:0001712;HP:0007029;HP:0030149
MONDO:0007355	uveal coloboma-cleft lip and palate-intellectual disability	direct	14	OMIM:120433;ORPHA:1473	21	8	0	3	3	13	HP:0000588;HP:0001328;HP:0045005	OMIM:120433;ORPHA:1473	21	8	0	3	3	13	HP:0000588;HP:0001328;HP:0045005
MONDO:0007374	Schnyder corneal dystrophy	direct	6	OMIM:121800	7	2	0	1	3	5	HP:0000531;HP:0000613;HP:0003124	OMIM:121800	7	2	0	1	3	5	HP:0000531;HP:0000613;HP:0003124
MONDO:0007407	Cryoglobulinemic vasculitis	direct	10	OMIM:123550;ORPHA:91138	36	4	3	0	3	32	HP:0012378;HP:0030880;HP:0033505	OMIM:123550;ORPHA:91138	36	4	3	0	3	32	HP:0012378;HP:0030880;HP:0033505
MONDO:0007481	Leri-Weill dyschondrosteosis	direct	14	OMIM:127300;ORPHA:240	51	9	1	1	3	42	HP:0002967;HP:0005773;HP:0009763	OMIM:127300;ORPHA:240	51	9	1	1	3	42	HP:0002967;HP:0005773;HP:0009763
MONDO:0007526	Ehlers-Danlos syndrome, spondylodysplastic type	direct	20	ORPHA:75496	37	8	0	0	12	29	HP:0000316;HP:0000494;HP:0000520;HP:0000545;HP:0000563;HP:0000592;HP:0000677;HP:0000926;HP:0001297;HP:0002619;HP:0002974;HP:0006487	OMIM:130070;OMIM:612350;OMIM:615349;ORPHA:157965;ORPHA:536467;ORPHA:75496	176	17	0	0	3	159	HP:0000563;HP:0000677;HP:0002619
MONDO:0007614	congenital fibrosis of extraocular muscles	direct	19	ORPHA:45358	36	9	2	1	7	27	HP:0000559;HP:0001273;HP:0003477;HP:0006101;HP:0010628;HP:6000596;HP:6000597	OMIM:135700;OMIM:600638;OMIM:602078;OMIM:609384;OMIM:609428;OMIM:609612;OMIM:616219;ORPHA:45358	70	13	1	2	3	57	HP:0000559;HP:6000596;HP:6000597
MONDO:0007686	gray platelet syndrome	direct	8	OMIM:139090;ORPHA:721	18	3	2	0	3	15	HP:0002719;HP:0002960;HP:6000016	OMIM:139090;ORPHA:721	18	3	2	0	3	15	HP:0002719;HP:0002960;HP:6000016
MONDO:0007708	Kasabach-Merritt syndrome	direct	8	OMIM:141000;ORPHA:2330	26	4	0	1	3	22	HP:0000978;HP:0001004;HP:0001376	OMIM:141000;ORPHA:2330	26	4	0	1	3	22	HP:0000978;HP:0001004;HP:0001376
MONDO:0007737	humeroradial synostosis	direct	9	OMIM:143050;ORPHA:3265	13	5	1	0	3	8	HP:0001363;HP:0004322;HP:0012165	OMIM:143050;OMIM:236400;ORPHA:3265	20	5	1	0	3	15	HP:0001363;HP:0004322;HP:0012165
MONDO:0007745	Gilbert syndrome	direct	5	OMIM:143500	5	2	0	0	3	3	HP:0001081;HP:0002027;HP:0012378	OMIM:143500	5	2	0	0	3	3	HP:0001081;HP:0002027;HP:0012378
MONDO:0007765	hyperostosis cranialis interna	direct	11	OMIM:144755	21	5	1	2	3	16	HP:0001293;HP:0007285;HP:0031912	OMIM:144755	21	5	1	2	3	16	HP:0001293;HP:0007285;HP:0031912
MONDO:0007771	hyperpigmentation with or without hypopigmentation, familial progressive	direct	6	OMIM:145250	9	3	0	0	3	6	HP:0009123;HP:0010284;HP:0020073	OMIM:145250	9	3	0	0	3	6	HP:0009123;HP:0010284;HP:0020073
MONDO:0007846	KBG syndrome	direct	23	OMIM:148050;ORPHA:2332	66	14	2	4	3	52	HP:0000403;HP:0000729;HP:0000750	OMIM:148050;ORPHA:2332	66	14	2	4	3	52	HP:0000403;HP:0000729;HP:0000750
MONDO:0007883	periodic fever, immunodeficiency, and thrombocytopenia syndrome	direct	12	OMIM:150550	17	3	2	4	3	14	HP:0001058;HP:0034447;HP:0040238	OMIM:150550	17	3	2	4	3	14	HP:0001058;HP:0034447;HP:0040238
MONDO:0007892	Lenz-Majewski hyperostotic dwarfism	direct	16	OMIM:151050;ORPHA:2658	102	11	2	0	3	91	HP:0001250;HP:0001999;HP:0002870	OMIM:151050;ORPHA:2658	102	11	2	0	3	91	HP:0001250;HP:0001999;HP:0002870
MONDO:0007924	Bannayan-Riley-Ruvalcaba syndrome	direct	17	ORPHA:109	55	8	6	0	3	47	HP:0000717;HP:0001263;HP:0031447	ORPHA:109	55	8	6	0	3	47	HP:0000717;HP:0001263;HP:0031447
MONDO:0008003	autosomal dominant progressive external ophthalmoplegia	direct	23	ORPHA:254892	81	14	4	2	3	67	HP:0000651;HP:0001618;HP:0008209	OMIM:157640;OMIM:609283;OMIM:609286;OMIM:610131;OMIM:613077;ORPHA:254892	131	21	1	1	0	110	
MONDO:0008061	nail-patella syndrome	direct	19	OMIM:161200;ORPHA:2614	99	11	4	1	3	88	HP:0000716;HP:0000822;HP:0007018	OMIM:161200;ORPHA:2614	99	11	4	1	3	88	HP:0000716;HP:0000822;HP:0007018
MONDO:0008111	oculodentodigital dysplasia	direct	22	OMIM:164200;ORPHA:2710	112	16	2	1	3	96	HP:0003429;HP:0003771;HP:4000104	OMIM:164200;OMIM:257850;ORPHA:2710	147	16	2	1	3	131	HP:0003429;HP:0003771;HP:4000104
MONDO:0008151	gnathodiaphyseal dysplasia	direct	10	OMIM:166260;ORPHA:53697	12	3	2	2	3	9	HP:0000164;HP:0003155;HP:0012328	OMIM:166260;ORPHA:53697	12	3	2	2	3	9	HP:0000164;HP:0003155;HP:0012328
MONDO:0008179	paroxysmal extreme pain disorder	direct	8	OMIM:167400;ORPHA:46348	13	3	2	0	3	10	HP:0001279;HP:0012332;HP:0040264	OMIM:167400;ORPHA:46348	13	3	2	0	3	10	HP:0001279;HP:0012332;HP:0040264
MONDO:0008222	Andersen-Tawil syndrome	direct	22	OMIM:170390;ORPHA:37553	79	18	0	1	3	61	HP:0001645;HP:0002153;HP:0034040	OMIM:170390;ORPHA:37553	79	18	0	1	3	61	HP:0001645;HP:0002153;HP:0034040
MONDO:0008473	spondyloepimetaphyseal dysplasia, Maroteaux type	direct	9	OMIM:184095	18	3	1	2	3	15	HP:0001156;HP:0002656;HP:0034392	OMIM:184095	18	3	1	2	3	15	HP:0001156;HP:0002656;HP:0034392
MONDO:0008547	thanatophoric dysplasia type 2	direct	22	OMIM:187601;ORPHA:93274	52	18	1	0	3	34	HP:0001263;HP:0002324;HP:0004060	OMIM:156830;OMIM:187601;ORPHA:93274	53	18	1	0	3	35	HP:0001263;HP:0002324;HP:0004060
MONDO:0008678	Williams syndrome	direct	35	OMIM:194050;ORPHA:904	234	30	0	2	3	204	HP:0000855;HP:0001263;HP:0012775	OMIM:194050;ORPHA:904	234	30	0	2	3	204	HP:0000855;HP:0001263;HP:0012775
MONDO:0008721	medium chain acyl-CoA dehydrogenase deficiency	direct	14	OMIM:201450;ORPHA:42	48	8	3	0	3	40	HP:0001298;HP:0001699;HP:0007018	OMIM:201450;ORPHA:42	48	8	3	0	3	40	HP:0001298;HP:0001699;HP:0007018
MONDO:0008740	agnathia-otocephaly complex	direct	16	OMIM:202650;ORPHA:990	34	11	1	1	3	23	HP:0002015;HP:0002643;HP:0002781	OMIM:202650;ORPHA:990	34	11	1	1	3	23	HP:0002015;HP:0002643;HP:0002781
MONDO:0008834	asthma, nasal polyps, and aspirin intolerance	direct	6	OMIM:208550	5	3	0	0	3	2	HP:0000458;HP:0001880;HP:0011109	OMIM:208550	5	3	0	0	3	2	HP:0000458;HP:0001880;HP:0011109
MONDO:0008910	carboxypeptidase N deficiency	direct	5	OMIM:212070	5	2	0	0	3	3	HP:0002027;HP:0002099;HP:0012027	OMIM:212070	5	2	0	0	3	3	HP:0002027;HP:0002099;HP:0012027
MONDO:0008919	systemic primary carnitine deficiency disease	direct	10	OMIM:212140;ORPHA:158	42	6	1	0	3	36	HP:0001695;HP:0001985;HP:0004308	OMIM:212140;ORPHA:158	42	6	1	0	3	36	HP:0001695;HP:0001985;HP:0004308
MONDO:0008947	bilateral striopallidodentate calcinosis	direct	12	ORPHA:1980	31	6	1	2	3	25	HP:0001251;HP:0001260;HP:0001300	OMIM:213600;OMIM:615007;OMIM:615483;OMIM:616413;OMIM:618317;OMIM:618824;OMIM:620786;OMIM:621018;OMIM:621452;ORPHA:1980	131	11	0	1	0	120	
MONDO:0008965	CHARGE syndrome	direct	21	ORPHA:138	94	9	2	6	4	85	HP:0000821;HP:0001250;HP:0001751;HP:0002104	OMIM:214800;ORPHA:138	150	13	1	4	3	137	HP:0001250;HP:0001751;HP:0002104
MONDO:0009009	hypoplasminogenemia	direct	7	OMIM:217090;ORPHA:722	28	1	2	1	3	27	HP:0000166;HP:0006480;HP:0034814	OMIM:217090;ORPHA:722	28	1	2	1	3	27	HP:0000166;HP:0006480;HP:0034814
MONDO:0009133	cerebellar ataxia, intellectual disability, and dysequilibrium	direct	11	ORPHA:1766	14	3	5	0	3	11	HP:0001263;HP:0001321;HP:0006855	OMIM:224050;OMIM:610185;OMIM:613227;OMIM:615268;ORPHA:1766	61	8	3	0	0	53	
MONDO:0009175	eosinophilic fasciitis	direct	6	OMIM:226350;ORPHA:3165	18	2	1	0	3	16	HP:0001072;HP:0001371;HP:0003237	OMIM:226350;ORPHA:3165	18	2	1	0	3	16	HP:0001072;HP:0001371;HP:0003237
MONDO:0009227	myofibromatosis, infantile, 1	direct	5	OMIM:228550	4	2	0	0	3	2	HP:0001482;HP:0002797;HP:0100544	OMIM:228550	4	2	0	0	3	2	HP:0001482;HP:0002797;HP:0100544
MONDO:0009241	fountain syndrome	direct	13	OMIM:229120;ORPHA:3219	49	7	2	1	3	42	HP:0000708;HP:0011390;HP:6000070	OMIM:229120;ORPHA:3219	49	7	2	1	3	42	HP:0000708;HP:0011390;HP:6000070
MONDO:0009259	gamma-glutamylcysteine synthetase deficiency	direct	11	OMIM:230450;ORPHA:33574	21	5	3	0	3	16	HP:0001257;HP:0001272;HP:0100543	OMIM:230450;ORPHA:33574	21	5	3	0	3	16	HP:0001257;HP:0001272;HP:0100543
MONDO:0009279	triple-A syndrome	direct	12	OMIM:231550;ORPHA:869	51	6	2	1	3	45	HP:0000726;HP:0002015;HP:0003202	OMIM:231550;ORPHA:869	51	6	2	1	3	45	HP:0000726;HP:0002015;HP:0003202
MONDO:0009292	glycogen storage disease due to glycogen branching enzyme deficiency	direct	33	OMIM:232500;ORPHA:367	45	30	0	0	3	15	HP:0000011;HP:0001258;HP:0009830	OMIM:232500;OMIM:263570;ORPHA:206583;ORPHA:367	75	33	0	0	0	42	
MONDO:0009318	Hallermann-Streiff syndrome	direct	13	OMIM:234100;ORPHA:2108	96	8	1	1	3	88	HP:0001999;HP:0007495;HP:0011800	OMIM:234100;ORPHA:2108	96	8	1	1	3	88	HP:0001999;HP:0007495;HP:0011800
MONDO:0009354	methylcobalamin deficiency type cblE	direct	16	OMIM:236270;ORPHA:2169	66	13	0	0	3	53	HP:0001878;HP:0002352;HP:0002353	OMIM:236270;ORPHA:2169	66	13	0	0	3	53	HP:0001878;HP:0002352;HP:0002353
MONDO:0009419	Woodhouse-Sakati syndrome	direct	15	OMIM:241080;ORPHA:3464	56	10	2	0	3	46	HP:0002015;HP:0002500;HP:0012675	OMIM:241080;ORPHA:3464	56	10	2	0	3	46	HP:0002015;HP:0002500;HP:0012675
MONDO:0009562	beta-mannosidosis	direct	11	OMIM:248510;ORPHA:118	20	6	1	1	3	14	HP:0002015;HP:0002376;HP:0012448	OMIM:248510;ORPHA:118	20	6	1	1	3	14	HP:0002015;HP:0002376;HP:0012448
MONDO:0009563	maple syrup urine disease	direct	17	ORPHA:511	11	5	0	0	12	6	HP:0000716;HP:0000739;HP:0001254;HP:0001259;HP:0001508;HP:0001942;HP:0002013;HP:0002181;HP:0006846;HP:0007018;HP:0008872;HP:0012088	OMIM:246900;OMIM:248600;OMIM:615135;OMIM:620698;OMIM:620699;ORPHA:2394;ORPHA:511	67	12	2	0	3	55	HP:0000716;HP:0000739;HP:0012088
MONDO:0009597	metaphyseal chondrodysplasia, Spahr type	direct	9	OMIM:250400;ORPHA:2501	29	4	2	0	3	25	HP:0002659;HP:0002812;HP:0005616	OMIM:250400;ORPHA:2501	29	4	2	0	3	25	HP:0002659;HP:0002812;HP:0005616
MONDO:0009603	3-hydroxyisobutyryl-CoA hydrolase deficiency	direct	16	OMIM:250620;ORPHA:88639	43	12	0	1	3	31	HP:0000252;HP:0000648;HP:0001257	OMIM:250620;ORPHA:88639	43	12	0	1	3	31	HP:0000252;HP:0000648;HP:0001257
MONDO:0009609	methylcobalamin deficiency type cblG	direct	9	OMIM:250940	39	5	0	1	3	34	HP:0000708;HP:0001298;HP:0002500	OMIM:250940	39	5	0	1	3	34	HP:0000708;HP:0001298;HP:0002500
MONDO:0009623	Nijmegen breakage syndrome	direct	7	OMIM:251260;ORPHA:647	107	4	0	0	3	103	HP:0000815;HP:0002721;HP:0011133	OMIM:251260;ORPHA:647	107	4	0	0	3	103	HP:0000815;HP:0002721;HP:0011133
MONDO:0009698	Unverricht-Lundborg syndrome	direct	9	OMIM:254800;ORPHA:308	18	5	1	0	3	13	HP:0000712;HP:0000716;HP:0001327	OMIM:254800;ORPHA:308	18	5	1	0	3	13	HP:0000712;HP:0000716;HP:0001327
MONDO:0009717	Schwartz-Jampel syndrome	direct	24	ORPHA:800	112	16	2	3	3	96	HP:0003417;HP:0003552;HP:0012385	OMIM:255800;OMIM:601559;ORPHA:3206;ORPHA:800	222	22	1	1	0	200	
MONDO:0009720	Keipert syndrome	direct	7	OMIM:301026;ORPHA:2662	41	2	1	1	3	39	HP:0001092;HP:0001263;HP:0001999	OMIM:301026;ORPHA:2662	41	2	1	1	3	39	HP:0001092;HP:0001263;HP:0001999
MONDO:0009773	odonto-onycho-dermal dysplasia	direct	13	OMIM:257980	35	4	1	5	3	31	HP:0000677;HP:0008069;HP:0031454	OMIM:257980	35	4	1	5	3	31	HP:0000677;HP:0008069;HP:0031454
MONDO:0009783	progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1	direct	17	OMIM:258450	62	10	0	4	3	52	HP:0001250;HP:0001399;HP:0010871	OMIM:258450	62	10	0	4	3	52	HP:0001250;HP:0001399;HP:0010871
MONDO:0009798	Primrose syndrome	direct	24	OMIM:259050;ORPHA:3042	105	15	2	4	3	90	HP:0000098;HP:0002007;HP:0010788	OMIM:259050;ORPHA:3042	105	15	2	4	3	90	HP:0000098;HP:0002007;HP:0010788
MONDO:0009805	osteogenesis imperfecta type 9	direct	14	OMIM:259440	35	6	1	4	3	29	HP:0000407;HP:0001252;HP:0002093	OMIM:259440	35	6	1	4	3	29	HP:0000407;HP:0001252;HP:0002093
MONDO:0009833	Shwachman-Diamond syndrome	direct	18	ORPHA:811	69	10	3	0	5	59	HP:0001263;HP:0001395;HP:0002089;HP:0002205;HP:0004887	OMIM:260400;OMIM:617941;ORPHA:811	105	12	3	0	3	93	HP:0001395;HP:0002089;HP:0004887
MONDO:0009855	d-bifunctional protein deficiency	direct	7	OMIM:261515	62	3	1	0	3	59	HP:0000648;HP:0001999;HP:0002415	OMIM:261515	62	3	1	0	3	59	HP:0000648;HP:0001999;HP:0002415
MONDO:0009874	Rabson-Mendenhall syndrome	direct	21	OMIM:262190;ORPHA:769	61	15	0	3	3	46	HP:0000093;HP:0000518;HP:0001538	OMIM:262190;ORPHA:769	61	15	0	3	3	46	HP:0000093;HP:0000518;HP:0001538
MONDO:0009916	46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency	direct	17	OMIM:264300;ORPHA:752	16	14	0	0	3	2	HP:0001007;HP:0001061;HP:0010300	OMIM:264300;ORPHA:752	16	14	0	0	3	2	HP:0001007;HP:0001061;HP:0010300
MONDO:0009973	reticular dysgenesis	direct	14	OMIM:267500;ORPHA:33355	84	10	1	0	3	74	HP:0001511;HP:0002718;HP:0410253	OMIM:242880;OMIM:267500;ORPHA:33355	88	10	1	0	3	78	HP:0001511;HP:0002718;HP:0410253
MONDO:0010017	sea-blue histiocyte syndrome	direct	6	OMIM:269600	10	3	0	0	3	7	HP:0002155;HP:0002240;HP:0002716	OMIM:269600	10	3	0	0	3	7	HP:0002155;HP:0002240;HP:0002716
MONDO:0010028	sialuria	direct	11	OMIM:269921;ORPHA:3166	56	4	2	2	3	52	HP:0002205;HP:0004840;HP:0006579	OMIM:269921;ORPHA:3166	56	4	2	2	3	52	HP:0002205;HP:0004840;HP:0006579
MONDO:0010108	testicular germ cell tumor	direct	4	OMIM:273300	7	1	0	0	3	6	HP:0000028;HP:0000771;HP:0010788	OMIM:273300;OMIM:300228	9	1	0	0	3	8	HP:0000028;HP:0000771;HP:0010788
MONDO:0010121	thrombocytopenia-absent radius syndrome	direct	14	OMIM:274000;ORPHA:3320	95	6	1	4	3	89	HP:0000967;HP:0002239;HP:0005548	OMIM:274000;ORPHA:3320	95	6	1	4	3	89	HP:0000967;HP:0002239;HP:0005548
MONDO:0010268	X-linked lissencephaly with abnormal genitalia	direct	15	OMIM:300215;ORPHA:452	43	9	2	1	3	34	HP:0002059;HP:0002134;HP:0007256	OMIM:300215;ORPHA:452	43	9	2	1	3	34	HP:0002059;HP:0002134;HP:0007256
MONDO:0010298	Lesch-Nyhan syndrome	direct	23	OMIM:300322;ORPHA:510	39	16	3	1	3	23	HP:0000736;HP:0001699;HP:0033073	OMIM:300322;OMIM:308950;ORPHA:510	41	16	3	1	3	25	HP:0000736;HP:0001699;HP:0033073
MONDO:0010371	Aland island eye disease	direct	12	OMIM:300600;ORPHA:178333	13	9	0	0	3	4	HP:0000610;HP:0000662;HP:0012805	OMIM:300600;ORPHA:178333	13	9	0	0	3	4	HP:0000610;HP:0000662;HP:0012805
MONDO:0010389	X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency	direct	4	OMIM:300645	5	1	0	0	3	4	HP:0001945;HP:0002716;HP:5210111	OMIM:300645	5	1	0	0	3	4	HP:0001945;HP:0002716;HP:5210111
MONDO:0010407	intellectual disability, X-linked syndromic, Turner type	direct	18	OMIM:309590	79	13	0	2	3	66	HP:0000717;HP:0001511;HP:0011968	OMIM:309590	79	13	0	2	3	66	HP:0000717;HP:0001511;HP:0011968
MONDO:0010514	combined immunodeficiency due to moesin deficiency	direct	6	OMIM:300988	7	2	1	0	3	5	HP:0002718;HP:0004429;HP:0012312	OMIM:300988	7	2	1	0	3	5	HP:0002718;HP:0004429;HP:0012312
MONDO:0010621	CHILD syndrome	direct	11	OMIM:308050;ORPHA:139	64	5	0	3	3	59	HP:0002764;HP:0008404;HP:0100555	OMIM:308050;ORPHA:139	64	5	0	3	3	59	HP:0002764;HP:0008404;HP:0100555
MONDO:0010689	Charcot-Marie-Tooth disease X-linked recessive 4	direct	13	OMIM:310490;ORPHA:101078	28	8	1	1	3	20	HP:0000551;HP:0001765;HP:0007256	OMIM:310490;ORPHA:101078	28	8	1	1	3	20	HP:0000551;HP:0001765;HP:0007256
MONDO:0010735	Kennedy disease	direct	15	OMIM:313200;ORPHA:481	27	8	3	1	3	19	HP:0002366;HP:0002483;HP:0003115	OMIM:313200;ORPHA:481	27	8	3	1	3	19	HP:0002366;HP:0002483;HP:0003115
MONDO:0010747	X-linked dystonia-parkinsonism	direct	16	OMIM:314250;ORPHA:53351	22	7	2	4	3	15	HP:0001824;HP:0004409;HP:0007325	OMIM:314250;ORPHA:53351	22	7	2	4	3	15	HP:0001824;HP:0004409;HP:0007325
MONDO:0010765	46,XY complete gonadal dysgenesis	direct	11	ORPHA:242	4	0	0	0	11	4	HP:0000013;HP:0000133;HP:0000150;HP:0000786;HP:0000815;HP:0000823;HP:0003187;HP:0004349;HP:0008222;HP:0008730;HP:0025733	OMIM:154230;OMIM:233420;OMIM:273250;OMIM:300018;OMIM:400044;OMIM:607080;OMIM:612965;OMIM:613080;OMIM:613762;OMIM:614279;OMIM:616067;OMIM:616425;ORPHA:168563;ORPHA:242;ORPHA:983	105	5	3	0	3	100	HP:0000823;HP:0003187;HP:0004349
MONDO:0010788	Leber hereditary optic neuropathy	direct	16	OMIM:535000;ORPHA:104	28	10	0	3	3	18	HP:0007305;HP:0007663;HP:0012511	OMIM:500001;OMIM:535000;ORPHA:104	41	10	0	3	3	31	HP:0007305;HP:0007663;HP:0012511
MONDO:0010789	MELAS syndrome	direct	39	OMIM:540000;ORPHA:550	103	32	4	0	3	71	HP:0000508;HP:0000556;HP:0001272	OMIM:540000;ORPHA:550	103	32	4	0	3	71	HP:0000508;HP:0000556;HP:0001272
MONDO:0010798	proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome	direct	10	OMIM:560000	25	4	1	2	3	21	HP:0001994;HP:0003200;HP:0003737	OMIM:560000	25	4	1	2	3	21	HP:0001994;HP:0003200;HP:0003737
MONDO:0010811	benign prostatic hyperplasia	direct	3	OMIM:600082	3	0	0	0	3	3	HP:0000012;HP:0000016;HP:0000017	OMIM:600082	3	0	0	0	3	3	HP:0000012;HP:0000016;HP:0000017
MONDO:0010992	Ayme-Gripp syndrome	direct	11	OMIM:601088	42	5	0	3	3	37	HP:0001263;HP:0001376;HP:0001698	OMIM:601088	42	5	0	3	3	37	HP:0001263;HP:0001376;HP:0001698
MONDO:0011010	Matthew-Wood syndrome	direct	10	OMIM:601186;ORPHA:2470	57	6	1	0	3	51	HP:0000365;HP:0012385;HP:0033725	OMIM:601186;ORPHA:2470	57	6	1	0	3	51	HP:0000365;HP:0012385;HP:0033725
MONDO:0011013	autosomal dominant hypocalcemia 1	direct	14	OMIM:601198	21	11	0	0	3	10	HP:0000518;HP:0000829;HP:0012622	OMIM:601198	21	11	0	0	3	10	HP:0000518;HP:0000829;HP:0012622
MONDO:0011142	Ehlers-Danlos syndrome, musculocontractural type	direct	40	ORPHA:2953	71	26	2	5	7	45	HP:0000939;HP:0001058;HP:0001181;HP:0001252;HP:0001476;HP:0002828;HP:0012745	OMIM:601776;OMIM:615539;ORPHA:2953	124	33	2	2	3	91	HP:0000939;HP:0002828;HP:0012745
MONDO:0011244	Marshall-Smith syndrome	direct	19	OMIM:602535;ORPHA:561	131	11	5	0	3	120	HP:0000708;HP:0000826;HP:0002093	OMIM:602535;ORPHA:561	131	11	5	0	3	120	HP:0000708;HP:0000826;HP:0002093
MONDO:0011268	renal tubular acidosis, distal, 3, with or without sensorineural hearing loss	direct	9	OMIM:602722	15	4	1	1	3	11	HP:0000787;HP:0011387;HP:0012622	OMIM:602722	15	4	1	1	3	11	HP:0000787;HP:0011387;HP:0012622
MONDO:0011399	alpha thalassemia spectrum	direct	12	OMIM:604131;ORPHA:846	25	8	0	1	3	17	HP:0002007;HP:0003281;HP:0025066	OMIM:604131;OMIM:613978;ORPHA:163596;ORPHA:846	33	9	0	0	3	24	HP:0002007;HP:0003281;HP:0025066
MONDO:0011658	autosomal recessive early-onset Parkinson disease 7	direct	11	OMIM:606324	14	6	0	2	3	8	HP:0000338;HP:0000709;HP:0100543	OMIM:606324	14	6	0	2	3	8	HP:0000338;HP:0000709;HP:0100543
MONDO:0011738	bilateral frontoparietal polymicrogyria	direct	13	OMIM:606854;ORPHA:101070	39	6	0	4	3	33	HP:0001252;HP:0002353;HP:0003429	OMIM:606854;ORPHA:101070	39	6	0	4	3	33	HP:0001252;HP:0002353;HP:0003429
MONDO:0011803	hereditary spastic paraplegia 7	direct	14	OMIM:607259;ORPHA:99013	60	8	1	2	3	52	HP:0001332;HP:0003202;HP:0009830	OMIM:607259;ORPHA:99013	60	8	1	2	3	52	HP:0001332;HP:0003202;HP:0009830
MONDO:0011818	isolated focal cortical dysplasia type II	direct	5	OMIM:607341	13	1	0	1	3	12	HP:0001263;HP:0011097;HP:0200134	OMIM:607341	13	1	0	1	3	12	HP:0001263;HP:0011097;HP:0200134
MONDO:0011831	arrhythmogenic right ventricular dysplasia 8	direct	5	OMIM:607450	9	1	0	1	3	8	HP:0000982;HP:0001644;HP:0012819	OMIM:607450	9	1	0	1	3	8	HP:0000982;HP:0001644;HP:0012819
MONDO:0011939	Spondyloenchondrodysplasia with immune dysregulation	direct	14	OMIM:607944;ORPHA:1855	92	10	1	0	3	82	HP:0000407;HP:0002608;HP:0005868	OMIM:607944;ORPHA:1855	92	10	1	0	3	82	HP:0000407;HP:0002608;HP:0005868
MONDO:0011962	endometrial cancer	direct	3	OMIM:608089	3	0	0	0	3	3	HP:0012378;HP:0033840;HP:0034267	OMIM:608089	3	0	0	0	3	3	HP:0012378;HP:0033840;HP:0034267
MONDO:0011964	DPAGT1-congenital disorder of glycosylation	direct	16	OMIM:608093;ORPHA:86309	88	11	2	0	3	77	HP:0001561;HP:0002188;HP:0034685	OMIM:608093;ORPHA:86309	88	11	2	0	3	77	HP:0001561;HP:0002188;HP:0034685
MONDO:0012118	COG7-congenital disorder of glycosylation	direct	20	OMIM:608779;ORPHA:79333	73	12	1	4	3	61	HP:0000973;HP:0004389;HP:0012156	OMIM:608779;ORPHA:79333	73	12	1	4	3	61	HP:0000973;HP:0004389;HP:0012156
MONDO:0012166	autosomal dominant sensory ataxia 1	direct	13	OMIM:608984	19	3	4	3	3	16	HP:0002166;HP:0007328;HP:0007772	OMIM:608984	19	3	4	3	3	16	HP:0002166;HP:0007328;HP:0007772
MONDO:0012180	arrhythmogenic right ventricular dysplasia 9	direct	11	OMIM:609040	14	8	0	0	3	6	HP:0001635;HP:0005133;HP:0010872	OMIM:609040	14	8	0	0	3	6	HP:0001635;HP:0005133;HP:0010872
MONDO:0012206	spondyloepiphyseal dysplasia with metatarsal shortening	direct	5	OMIM:609162	20	2	0	0	3	18	HP:0000407;HP:0002758;HP:0002857	OMIM:609162	20	2	0	0	3	18	HP:0000407;HP:0002758;HP:0002857
MONDO:0012221	alpha-N-acetylgalactosaminidase deficiency type 1	direct	7	OMIM:609241;ORPHA:79279	37	4	0	0	3	33	HP:0000618;HP:0001284;HP:0034381	OMIM:609241;ORPHA:79279	37	4	0	0	3	33	HP:0000618;HP:0001284;HP:0034381
MONDO:0012251	MEDNIK syndrome	direct	9	OMIM:609313;ORPHA:171851	29	3	2	1	3	26	HP:0001250;HP:0002286;HP:0011220	OMIM:609313;ORPHA:171851	29	3	2	1	3	26	HP:0001250;HP:0002286;HP:0011220
MONDO:0012383	primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	direct	8	OMIM:609981	21	4	1	0	3	17	HP:0002110;HP:0002206;HP:0031410	OMIM:609981	21	4	1	0	3	17	HP:0002110;HP:0002206;HP:0031410
MONDO:0012449	spinocerebellar ataxia type 23	direct	10	OMIM:610245;ORPHA:101108	24	6	0	1	3	18	HP:0000639;HP:0001300;HP:0002015	OMIM:610245;ORPHA:101108	24	6	0	1	3	18	HP:0000639;HP:0001300;HP:0002015
MONDO:0012454	alcohol sensitivity, acute	direct	4	OMIM:610251	3	0	0	1	3	3	HP:0001649;HP:0002018;HP:0011459	OMIM:610251	3	0	0	1	3	3	HP:0001649;HP:0002018;HP:0011459
MONDO:0012503	thiopurine S-methyltransferase deficiency	direct	3	OMIM:610460	2	0	0	0	3	2	HP:0001873;HP:0001876;HP:0001882	OMIM:610460	2	0	0	0	3	2	HP:0001873;HP:0001876;HP:0001882
MONDO:0012504	camptodactyly-tall stature-scoliosis-hearing loss syndrome	direct	16	OMIM:610474;ORPHA:85164	19	12	1	0	3	7	HP:0002540;HP:0002645;HP:0011065	OMIM:610474;ORPHA:85164	19	12	1	0	3	7	HP:0002540;HP:0002645;HP:0011065
MONDO:0012579	autoimmune pulmonary alveolar proteinosis	direct	14	OMIM:610910;ORPHA:747	28	10	1	0	3	18	HP:0001901;HP:0002878;HP:0031690	OMIM:610910;ORPHA:747	28	10	1	0	3	18	HP:0001901;HP:0002878;HP:0031690
MONDO:0012637	COG1-congenital disorder of glycosylation	direct	29	OMIM:611209;ORPHA:263508	91	24	0	2	3	67	HP:0001250;HP:0001943;HP:0012115	OMIM:611209;ORPHA:263508	91	24	0	2	3	67	HP:0001250;HP:0001943;HP:0012115
MONDO:0012703	lissencephaly due to TUBA1A mutation	direct	14	OMIM:611603;ORPHA:171680	41	5	3	3	3	36	HP:0000505;HP:0001344;HP:0002015	OMIM:611603;ORPHA:171680	41	5	3	3	3	36	HP:0000505;HP:0001344;HP:0002015
MONDO:0012747	glycogen storage disease due to aldolase A deficiency	direct	10	OMIM:611881;ORPHA:57	49	5	1	1	3	44	HP:0001250;HP:0001263;HP:0004220	OMIM:611881;ORPHA:57	49	5	1	1	3	44	HP:0001250;HP:0001263;HP:0004220
MONDO:0012761	chromosome 3q29 microduplication syndrome	direct	12	OMIM:611936;ORPHA:251038	41	6	0	3	3	35	HP:0000717;HP:0000750;HP:0001328	OMIM:611936;ORPHA:251038	41	6	0	3	3	35	HP:0000717;HP:0000750;HP:0001328
MONDO:0012762	catecholaminergic polymorphic ventricular tachycardia 2	direct	8	OMIM:611938	8	2	3	0	3	6	HP:0001663;HP:0001695;HP:0001962	OMIM:611938	8	2	3	0	3	6	HP:0001663;HP:0001695;HP:0001962
MONDO:0012784	autosomal recessive ataxia due to ubiquinone deficiency	direct	15	OMIM:612016;ORPHA:139485	38	11	1	0	3	27	HP:0001260;HP:0002487;HP:0100543	OMIM:612016;ORPHA:139485	38	11	1	0	3	27	HP:0001260;HP:0002487;HP:0100543
MONDO:0012885	SRD5A3-congenital disorder of glycosylation	direct	20	OMIM:612379;ORPHA:324737	52	12	3	2	3	40	HP:0000545;HP:0000609;HP:0000662	OMIM:612379;ORPHA:324737	52	12	3	2	3	40	HP:0000545;HP:0000609;HP:0000662
MONDO:0012906	primary ciliary dyskinesia 9	direct	12	OMIM:612444	16	7	1	1	3	9	HP:0000238;HP:0000405;HP:0030853	OMIM:612444	16	7	1	1	3	9	HP:0000238;HP:0000405;HP:0030853
MONDO:0012990	Leber congenital amaurosis 13	direct	6	OMIM:612712	8	1	2	0	3	7	HP:0000550;HP:0007401;HP:0031728	OMIM:612712	8	1	2	0	3	7	HP:0000550;HP:0007401;HP:0031728
MONDO:0013007	combined immunodeficiency due to ORAI1 deficiency	direct	6	OMIM:612782	27	1	2	0	3	26	HP:0000970;HP:0001890;HP:0012156	OMIM:612782	27	1	2	0	3	26	HP:0000970;HP:0001890;HP:0012156
MONDO:0013038	CLOVES syndrome	direct	35	OMIM:612918;ORPHA:140944	55	28	2	2	3	27	HP:0000684;HP:0002119;HP:0100764	OMIM:612918;ORPHA:140944	55	28	2	2	3	27	HP:0000684;HP:0002119;HP:0100764
MONDO:0013056	developmental and epileptic encephalopathy, 39	direct	10	OMIM:612949	46	5	2	0	3	41	HP:0001249;HP:0002059;HP:0002134	OMIM:612949	46	5	2	0	3	41	HP:0001249;HP:0002059;HP:0002134
MONDO:0013119	autosomal recessive nonsyndromic hearing loss 77	direct	3	OMIM:613079	4	0	0	0	3	4	HP:0000399;HP:0000408;HP:0006958	OMIM:613079	4	0	0	0	3	4	HP:0000399;HP:0000408;HP:0006958
MONDO:0013197	hypertrophic cardiomyopathy 14	direct	7	OMIM:613251	11	4	0	0	3	7	HP:0001644;HP:0001645;HP:0025168	OMIM:613251	11	4	0	0	3	7	HP:0001644;HP:0001645;HP:0025168
MONDO:0013211	dilated cardiomyopathy 1FF	direct	7	OMIM:613286	9	2	0	2	3	7	HP:0001645;HP:0011675;HP:4000141	OMIM:613286	9	2	0	2	3	7	HP:0001645;HP:0011675;HP:4000141
MONDO:0013281	COG4-congenital disorder of glycosylation	direct	14	OMIM:613489;ORPHA:263501	44	5	1	5	3	39	HP:0000365;HP:0001249;HP:0001954	OMIM:613489;ORPHA:263501	44	5	1	5	3	39	HP:0000365;HP:0001249;HP:0001954
MONDO:0013381	neuropathy, hereditary sensory, type 1D	direct	6	OMIM:613708	14	2	1	0	3	12	HP:0002460;HP:0007256;HP:0200042	OMIM:613708	14	2	1	0	3	12	HP:0002460;HP:0007256;HP:0200042
MONDO:0013404	hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	direct	15	OMIM:613752;ORPHA:88618	56	11	0	1	3	45	HP:0001284;HP:0001399;HP:0003198	OMIM:613752;ORPHA:88618	56	11	0	1	3	45	HP:0001284;HP:0001399;HP:0003198
MONDO:0013412	hypertrophic cardiomyopathy 9	direct	3	OMIM:613765	3	0	0	0	3	3	HP:0001712;HP:0025168;HP:0031333	OMIM:613765	3	0	0	0	3	3	HP:0001712;HP:0025168;HP:0031333
MONDO:0013675	multiple mitochondrial dysfunctions syndrome 2	direct	15	OMIM:614299;ORPHA:401874	48	10	1	1	3	38	HP:0001508;HP:0002092;HP:0002352	OMIM:614299;ORPHA:401874	48	10	1	1	3	38	HP:0001508;HP:0002092;HP:0002352
MONDO:0013737	hereditary spastic paraplegia 46	direct	16	OMIM:614409;ORPHA:320391	54	10	1	2	3	44	HP:0000135;HP:0007366;HP:0025331	OMIM:614409;ORPHA:320391	54	10	1	2	3	44	HP:0000135;HP:0007366;HP:0025331
MONDO:0013753	Charcot-Marie-Tooth disease axonal type 2P	direct	9	OMIM:614436	20	5	0	1	3	15	HP:0001300;HP:0002317;HP:0012531	OMIM:614436	20	5	0	1	3	15	HP:0001300;HP:0002317;HP:0012531
MONDO:0013801	developmental and epileptic encephalopathy, 13	direct	7	OMIM:614558	30	3	0	1	3	27	HP:0001251;HP:0001266;HP:0001332	OMIM:614558	30	3	0	1	3	27	HP:0001251;HP:0001266;HP:0001332
MONDO:0013873	IMAGe syndrome	direct	11	OMIM:614732;ORPHA:85173	27	7	1	0	3	20	HP:0000121;HP:0000846;HP:0004322	OMIM:614732;ORPHA:85173	27	7	1	0	3	20	HP:0000121;HP:0000846;HP:0004322
MONDO:0013885	Malan overgrowth syndrome	direct	17	OMIM:614753;ORPHA:420179	61	14	0	0	3	47	HP:0002019;HP:0002616;HP:0007018	OMIM:614753;ORPHA:420179	61	14	0	0	3	47	HP:0002019;HP:0002616;HP:0007018
MONDO:0013898	karyomegalic interstitial nephritis	direct	10	OMIM:614817	13	5	1	1	3	8	HP:0002205;HP:0005576;HP:6000429	OMIM:614817	13	5	1	1	3	8	HP:0002205;HP:0005576;HP:6000429
MONDO:0013976	ectodermal dysplasia 9, hair/nail type	direct	4	OMIM:614931	20	1	0	0	3	19	HP:0001596;HP:0003328;HP:0011481	OMIM:614931	20	1	0	0	3	19	HP:0001596;HP:0003328;HP:0011481
MONDO:0013991	obesity due to congenital leptin deficiency	direct	9	OMIM:614962;ORPHA:66628	26	3	1	2	3	23	HP:0000822;HP:0000823;HP:0001263	OMIM:614962;ORPHA:66628	26	3	1	2	3	23	HP:0000822;HP:0000823;HP:0001263
MONDO:0014029	osteogenesis imperfecta type 14	direct	10	OMIM:615066	24	3	0	4	3	21	HP:0001252;HP:0002812;HP:0002953	OMIM:615066	24	3	0	4	3	21	HP:0001252;HP:0002812;HP:0002953
MONDO:0014152	left ventricular noncompaction 8	direct	7	OMIM:615373	10	3	1	0	3	7	HP:0001685;HP:0001790;HP:0001907	OMIM:615373	10	3	1	0	3	7	HP:0001685;HP:0001790;HP:0001907
MONDO:0014247	familial episodic pain syndrome with predominantly lower limb involvement	direct	7	OMIM:615552	4	0	4	0	3	4	HP:0000975;HP:0001337;HP:0002019	OMIM:615552	4	0	4	0	3	4	HP:0000975;HP:0001337;HP:0002019
MONDO:0014311	autosomal recessive spinocerebellar ataxia 15	direct	14	OMIM:615705;ORPHA:404499	24	10	0	1	3	14	HP:0000365;HP:0001332;HP:0200134	OMIM:615705;ORPHA:404499	24	10	0	1	3	14	HP:0000365;HP:0001332;HP:0200134
MONDO:0014339	autosomal recessive spinocerebellar ataxia 16	direct	13	OMIM:615768;ORPHA:412057	60	7	3	0	3	53	HP:0002071;HP:0002073;HP:0009830	OMIM:615768;ORPHA:412057	60	7	3	0	3	53	HP:0002071;HP:0002073;HP:0009830
MONDO:0014608	mandibulofacial dysostosis with alopecia	direct	9	OMIM:616367	26	5	0	1	3	21	HP:0007513;HP:0010668;HP:0010754	OMIM:616367	26	5	0	1	3	21	HP:0007513;HP:0010668;HP:0010754
MONDO:0014643	congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome	direct	7	OMIM:616449;ORPHA:464738	80	1	0	3	3	79	HP:0001510;HP:0002126;HP:0010864	OMIM:616449;ORPHA:464738	80	1	0	3	3	79	HP:0001510;HP:0002126;HP:0010864
MONDO:0014651	acrofacial dysostosis Cincinnati type	direct	12	OMIM:616462	104	5	1	3	3	99	HP:0000272;HP:0001631;HP:0005321	OMIM:616462	104	5	1	3	3	99	HP:0000272;HP:0001631;HP:0005321
MONDO:0014715	primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	direct	4	OMIM:616636	13	1	0	0	3	12	HP:0004429;HP:0012156;HP:0031697	OMIM:616636	13	1	0	0	3	12	HP:0004429;HP:0012156;HP:0031697
MONDO:0014751	palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome	direct	12	OMIM:616728;ORPHA:477993	58	6	1	2	3	52	HP:0000637;HP:0001249;HP:0034295	OMIM:616728;ORPHA:477993	58	6	1	2	3	52	HP:0000637;HP:0001249;HP:0034295
MONDO:0014785	microcephaly, short stature, and impaired glucose metabolism 2	direct	21	OMIM:616817	46	16	0	2	3	30	HP:0000819;HP:0001321;HP:0001394	OMIM:616817	46	16	0	2	3	30	HP:0000819;HP:0001321;HP:0001394
MONDO:0014797	lymphatic malformation 6	direct	12	OMIM:616843	32	9	0	0	3	23	HP:0001698;HP:0004444;HP:0004446	OMIM:616843	32	9	0	0	3	23	HP:0001698;HP:0004444;HP:0004446
MONDO:0014804	sideroblastic anemia 3	direct	4	OMIM:616860	16	0	1	0	3	16	HP:0003452;HP:0004864;HP:0008306	OMIM:616860	16	0	1	0	3	16	HP:0003452;HP:0004864;HP:0008306
MONDO:0014867	spinocerebellar ataxia 43	direct	16	OMIM:617018;ORPHA:497764	32	12	0	1	3	20	HP:0002072;HP:0006886;HP:0012048	OMIM:617018;ORPHA:497764	32	12	0	1	3	20	HP:0002072;HP:0006886;HP:0012048
MONDO:0014944	short stature-brachydactyly-obesity-global developmental delay syndrome	direct	19	OMIM:617157;ORPHA:464288	89	13	2	1	3	76	HP:0000337;HP:0000639;HP:0045075	OMIM:617157;ORPHA:464288	89	13	2	1	3	76	HP:0000337;HP:0000639;HP:0045075
MONDO:0014955	RCBTB1-related retinopathy	direct	9	OMIM:617175	10	4	2	0	3	6	HP:0000407;HP:0000533;HP:0500087	OMIM:617175	10	4	2	0	3	6	HP:0000407;HP:0000533;HP:0500087
MONDO:0015012	mucopolysaccharidosis-plus syndrome	direct	34	OMIM:617303;ORPHA:505248	101	24	6	1	3	77	HP:0001791;HP:0007894;HP:0012156	OMIM:617303;ORPHA:505248	101	24	6	1	3	77	HP:0001791;HP:0007894;HP:0012156
MONDO:0015129	chronic primary adrenal insufficiency	direct	9	OMIM:240200	13	3	2	1	3	10	HP:0001824;HP:0012378;HP:0030083	OMIM:201710;OMIM:201810;OMIM:201910;OMIM:202010;OMIM:202110;OMIM:202150;OMIM:202200;OMIM:202355;OMIM:231550;OMIM:240200;OMIM:300200;OMIM:607398;OMIM:609197;OMIM:613571;OMIM:614736;OMIM:617825;ORPHA:289548;ORPHA:361;ORPHA:85138;ORPHA:869;ORPHA:90790;ORPHA:90791;ORPHA:90793;ORPHA:90794;ORPHA:90795;ORPHA:95699;ORPHA:95702	356	9	0	0	0	347	
MONDO:0015280	cardiofaciocutaneous syndrome	direct	11	ORPHA:1340	79	4	2	2	3	75	HP:0001250;HP:0001561;HP:0032152	OMIM:115150;OMIM:615278;OMIM:615279;OMIM:615280;ORPHA:1340	177	8	2	1	0	169	
MONDO:0015299	Asherman syndrome	direct	6	ORPHA:137686	11	1	2	0	3	10	HP:0030127;HP:0030712;HP:0034267	ORPHA:137686	11	1	2	0	3	10	HP:0030127;HP:0030712;HP:0034267
MONDO:0015749	6q16 deletion syndrome	direct	7	ORPHA:171829	32	3	0	1	3	29	HP:0001249;HP:0004322;HP:0040075	ORPHA:171829	32	3	0	1	3	29	HP:0001249;HP:0004322;HP:0040075
MONDO:0015776	rhizomelic chondrodysplasia punctata	direct	9	ORPHA:177	20	4	1	1	3	16	HP:0001250;HP:0001257;HP:0003417	OMIM:215100;OMIM:222765;OMIM:600121;OMIM:616716;ORPHA:177	95	8	1	0	0	87	
MONDO:0016070	hereditary gingival fibromatosis	direct	5	ORPHA:2024	2	2	0	0	3	0	HP:0000684;HP:0000692;HP:0011968	OMIM:135300;OMIM:617626;OMIM:620999;ORPHA:2024	8	2	0	0	3	6	HP:0000684;HP:0000692;HP:0011968
MONDO:0016081	coronary arterial fistulas	direct	8	ORPHA:2041	27	3	1	1	3	24	HP:0001658;HP:0011641;HP:0100749	ORPHA:2041	27	3	1	1	3	24	HP:0001658;HP:0011641;HP:0100749
MONDO:0016085	Cole-Carpenter syndrome	direct	11	ORPHA:2050	26	7	0	1	3	19	HP:0000256;HP:0001363;HP:0004349	OMIM:112240;OMIM:616294;ORPHA:2050	55	10	0	1	0	45	
MONDO:0016244	atypical hemolytic-uremic syndrome	direct	12	ORPHA:2134	13	5	3	0	4	8	HP:0000822;HP:0001250;HP:0001297;HP:0002014	OMIM:612922;OMIM:612923;OMIM:612924;OMIM:612925;OMIM:612926;ORPHA:2134	28	6	3	0	3	22	HP:0001250;HP:0001297;HP:0002014
MONDO:0016349	congenital hydrocephalus	direct	15	ORPHA:2185	21	5	1	0	9	16	HP:0000239;HP:0001181;HP:0001257;HP:0001273;HP:0002410;HP:0002475;HP:0002516;HP:0025660;HP:0032388	OMIM:236600;OMIM:307000;OMIM:615219;OMIM:617967;ORPHA:2182;ORPHA:2185	60	10	1	1	3	50	HP:0000239;HP:0002475;HP:0025660
MONDO:0016755	neurofibroma	direct	5	ORPHA:252183	26	2	0	0	3	24	HP:0001324;HP:0012531;HP:0100697	ORPHA:252183	26	2	0	0	3	24	HP:0001324;HP:0012531;HP:0100697
MONDO:0016820	Moyamoya disease	direct	7	ORPHA:2573	5	1	3	0	3	4	HP:0001269;HP:0100543;HP:0100545	OMIM:252350;OMIM:300845;OMIM:607151;OMIM:614042;OMIM:615750;OMIM:620687;OMIM:621469;ORPHA:2573;ORPHA:280679;ORPHA:401945	89	5	2	0	0	84	
MONDO:0017362	neuralgic amyotrophy	direct	7	ORPHA:2901	24	3	0	1	3	21	HP:0009113;HP:0012378;HP:0030834	ORPHA:2901	24	3	0	1	3	21	HP:0009113;HP:0012378;HP:0030834
MONDO:0017593	juvenile amyotrophic lateral sclerosis	direct	10	ORPHA:300605	46	1	4	1	4	45	HP:0000763;HP:0001508;HP:0002380;HP:0002878	OMIM:205100;OMIM:205200;OMIM:602099;OMIM:614373;ORPHA:300605	83	5	1	1	3	78	HP:0000763;HP:0001508;HP:0002878
MONDO:0017771	Mayer-Rokitansky-Kuster-Hauser syndrome	direct	17	ORPHA:3109	24	10	3	0	4	14	HP:0000131;HP:0002650;HP:0008222;HP:0040314	OMIM:277000;OMIM:601076;ORPHA:2578;ORPHA:3109	58	10	4	0	3	48	HP:0000131;HP:0008222;HP:0040314
MONDO:0017861	ethylene glycol poisoning	direct	9	ORPHA:31826	44	5	1	0	3	39	HP:0000121;HP:0003159;HP:0020074	ORPHA:31826	44	5	1	0	3	39	HP:0000121;HP:0003159;HP:0020074
MONDO:0018019	lead poisoning	direct	12	ORPHA:330015	62	9	0	0	3	53	HP:0000168;HP:0001263;HP:0001997	ORPHA:330015	62	9	0	0	3	53	HP:0000168;HP:0001263;HP:0001997
MONDO:0018068	trisomy 13	direct	9	ORPHA:3378	59	1	1	4	3	58	HP:0000431;HP:0001057;HP:0001360	ORPHA:3378	59	1	1	4	3	58	HP:0000431;HP:0001057;HP:0001360
MONDO:0018310	Langerhans cell histiocytosis	direct	9	ORPHA:389	27	5	1	0	3	22	HP:0001272;HP:0001876;HP:0032445	OMIM:246400;ORPHA:389	41	5	1	0	3	36	HP:0001272;HP:0001876;HP:0032445
MONDO:0018556	Lambert-Eaton myasthenic syndrome	direct	8	ORPHA:43393	16	1	2	2	3	15	HP:0000508;HP:0000651;HP:0002015	ORPHA:43393	16	1	2	2	3	15	HP:0000508;HP:0000651;HP:0002015
MONDO:0018772	Joubert syndrome	direct	43	ORPHA:475	37	29	0	3	11	8	HP:0000090;HP:0000107;HP:0000365;HP:0000556;HP:0001395;HP:0001409;HP:0002015;HP:0002040;HP:0002419;HP:0010535;HP:0011098	OMIM:213300;OMIM:277170;OMIM:300804;OMIM:608091;OMIM:608629;OMIM:609583;OMIM:610188;OMIM:610688;OMIM:611560;OMIM:612285;OMIM:612291;OMIM:614173;OMIM:614424;OMIM:614464;OMIM:614465;OMIM:614615;OMIM:614815;OMIM:614970;OMIM:615636;OMIM:615665;OMIM:616490;OMIM:616654;OMIM:616781;OMIM:616784;OMIM:617120;OMIM:617121;OMIM:617622;OMIM:617757;OMIM:617761;OMIM:617767;OMIM:618161;OMIM:618763;OMIM:619185;OMIM:619476;OMIM:619562;OMIM:619582;ORPHA:220497;ORPHA:2754;ORPHA:475	331	37	0	3	3	294	HP:0001409;HP:0002040;HP:0011098
MONDO:0018855	keratosis pilaris atrophicans	direct	6	OMIM:604093	12	1	2	0	3	11	HP:0001075;HP:0004552;HP:0007502	OMIM:209700;OMIM:308800;OMIM:604093;OMIM:612843;ORPHA:2340;ORPHA:3406;ORPHA:79100	66	5	1	0	0	61	
MONDO:0018883	Berardinelli-Seip congenital lipodystrophy	direct	20	ORPHA:528	37	17	0	0	3	20	HP:0003198;HP:0003236;HP:0011675	OMIM:269700;OMIM:608594;OMIM:612526;ORPHA:528	74	17	0	0	3	57	HP:0003198;HP:0003236;HP:0011675
MONDO:0018923	22q11.2 deletion syndrome	direct	14	ORPHA:567	131	7	2	2	3	124	HP:0000220;HP:0000750;HP:0005359	OMIM:125520;OMIM:188400;OMIM:192430;OMIM:611867;ORPHA:1166;ORPHA:261330;ORPHA:567	236	9	3	2	0	227	
MONDO:0018948	multiminicore myopathy	direct	12	ORPHA:598	21	5	0	2	5	16	HP:0002877;HP:0003115;HP:0003327;HP:0004349;HP:0012378	OMIM:255320;OMIM:602771;ORPHA:178145;ORPHA:178148;ORPHA:324604;ORPHA:598;ORPHA:98905	121	8	0	1	3	113	HP:0003115;HP:0004349;HP:0012378
MONDO:0018974	paraneoplastic pemphigus	direct	4	ORPHA:63455	7	1	0	0	3	6	HP:0010280;HP:0011946;HP:0100792	ORPHA:63455	7	1	0	0	3	6	HP:0010280;HP:0011946;HP:0100792
MONDO:0019037	progressive supranuclear palsy	direct	15	ORPHA:683	32	10	0	0	5	22	HP:0000739;HP:0002019;HP:0002359;HP:0031825;HP:0033051	OMIM:260540;OMIM:601104;OMIM:609454;ORPHA:240071;ORPHA:240085;ORPHA:240094;ORPHA:240103;ORPHA:240112;ORPHA:683;ORPHA:99750	115	12	0	0	3	103	HP:0000739;HP:0002019;HP:0033051
MONDO:0019082	bullous pemphigoid	direct	6	ORPHA:703	15	3	0	0	3	12	HP:0001880;HP:0030351;HP:0031446	ORPHA:703	15	3	0	0	3	12	HP:0001880;HP:0030351;HP:0031446
MONDO:0019087	cholangiocarcinoma	direct	5	ORPHA:70567	8	2	0	0	3	6	HP:0001824;HP:0002240;HP:0012334	ORPHA:70567;ORPHA:99978	14	5	0	0	0	9	
MONDO:0019093	immunodeficiency due to selective anti-polysaccharide antibody deficiency	direct	9	ORPHA:70593	15	3	2	1	3	12	HP:0002110;HP:0005425;HP:0006532	ORPHA:70593	15	3	2	1	3	12	HP:0002110;HP:0005425;HP:0006532
MONDO:0019095	plague	direct	10	ORPHA:707	55	4	1	2	3	51	HP:0002716;HP:0005521;HP:0012735	ORPHA:707	55	4	1	2	3	51	HP:0002716;HP:0005521;HP:0012735
MONDO:0019124	microscopic polyangiitis	direct	24	ORPHA:727	55	20	1	0	3	35	HP:0000093;HP:0002094;HP:0006530	ORPHA:727	55	20	1	0	3	35	HP:0000093;HP:0002094;HP:0006530
MONDO:0019148	Wolman disease	direct	13	OMIM:620151;ORPHA:75233	24	8	1	1	3	16	HP:0001873;HP:0002014;HP:0012649	OMIM:620151;ORPHA:75233	24	8	1	1	3	16	HP:0001873;HP:0002014;HP:0012649
MONDO:0019316	maculopapular cutaneous mastocytosis	direct	9	ORPHA:79457	21	5	1	0	3	16	HP:0000953;HP:0040186;HP:0100495	ORPHA:79457	21	5	1	0	3	16	HP:0000953;HP:0040186;HP:0100495
MONDO:0019390	Susac syndrome	direct	9	ORPHA:838	23	6	0	0	3	17	HP:0000575;HP:0001298;HP:0020161	ORPHA:838	23	6	0	0	3	17	HP:0000575;HP:0001298;HP:0020161
MONDO:0019402	beta thalassemia	direct	18	ORPHA:848	21	3	4	1	10	18	HP:0000823;HP:0000952;HP:0001923;HP:0001978;HP:0003281;HP:0004322;HP:0004890;HP:0012132;HP:0025066;HP:0034280	OMIM:187550;OMIM:603902;OMIM:613985;ORPHA:231214;ORPHA:231222;ORPHA:231226;ORPHA:848	83	12	3	0	3	71	HP:0001923;HP:0003281;HP:0034280
MONDO:0019448	benign adult familial myoclonic epilepsy	direct	8	ORPHA:86814	8	1	2	2	3	7	HP:0000662;HP:0001272;HP:0100543	ORPHA:86814	8	1	2	2	3	7	HP:0000662;HP:0001272;HP:0100543
MONDO:0019609	Zellweger spectrum disorders	direct	18	ORPHA:772;ORPHA:912	72	8	2	3	5	64	HP:0000546;HP:0000787;HP:0000938;HP:0001271;HP:0002415	OMIM:202370;OMIM:214100;OMIM:214110;OMIM:234580;OMIM:266510;OMIM:601539;OMIM:614859;OMIM:614862;OMIM:614863;OMIM:614866;OMIM:614867;OMIM:614870;OMIM:614871;OMIM:614872;OMIM:614873;OMIM:614876;OMIM:614877;OMIM:614879;OMIM:614882;OMIM:614883;OMIM:614885;OMIM:614886;OMIM:614887;OMIM:614920;OMIM:616617;OMIM:617370;ORPHA:772;ORPHA:912;ORPHA:95433	357	15	0	0	3	342	HP:0000546;HP:0000787;HP:0000938
MONDO:0019681	juvenile sialidosis type 2	direct	14	ORPHA:93399	38	9	1	1	3	29	HP:0001371;HP:0002650;HP:0004322	ORPHA:93399	38	9	1	1	3	29	HP:0001371;HP:0002650;HP:0004322
MONDO:0019941	hereditary sensory and autonomic neuropathy type 2	direct	10	ORPHA:970	15	1	0	0	9	14	HP:0000742;HP:0000970;HP:0002495;HP:0002661;HP:0002754;HP:0007328;HP:0010829;HP:0012074;HP:0200042	OMIM:201300;OMIM:613115;OMIM:614213;ORPHA:970	64	4	1	2	3	60	HP:0000742;HP:0007328;HP:0012074
MONDO:0020499	Nipah virus disease	direct	13	ORPHA:99825	17	7	1	2	3	10	HP:0001252;HP:0001284;HP:0033677	ORPHA:99825	17	7	1	2	3	10	HP:0001252;HP:0001284;HP:0033677
MONDO:0020778	cone-rod dystrophy and hearing loss 1	direct	4	OMIM:617236	11	0	1	0	3	11	HP:0000548;HP:0003251;HP:0012864	OMIM:617236	11	0	1	0	3	11	HP:0000548;HP:0003251;HP:0012864
MONDO:0020850	intellectual disability, autosomal recessive 65	direct	10	OMIM:618109	37	2	0	5	3	35	HP:0000256;HP:0001252;HP:0001548	OMIM:618109	37	2	0	5	3	35	HP:0000256;HP:0001252;HP:0001548
MONDO:0023655	immunodeficiency 14b, autosomal recessive	direct	6	OMIM:619281	20	2	1	0	3	18	HP:0001973;HP:0005425;HP:0030388	OMIM:619281	20	2	1	0	3	18	HP:0001973;HP:0005425;HP:0030388
MONDO:0024552	linear skin defects with multiple congenital anomalies 1	direct	16	OMIM:309801	38	9	0	4	3	29	HP:0001057;HP:0001999;HP:0008404	OMIM:309801	38	9	0	4	3	29	HP:0001057;HP:0001999;HP:0008404
MONDO:0024777	immunodeficiency 98 with autoinflammation, X-linked	direct	13	OMIM:301078	24	7	0	3	3	17	HP:0000155;HP:0005523;HP:0012410	OMIM:301078	24	7	0	3	3	17	HP:0000155;HP:0005523;HP:0012410
MONDO:0026777	VEXAS syndrome	direct	12	OMIM:301054	25	7	0	2	3	18	HP:0031047;HP:0034786;HP:0100533	OMIM:301054	25	7	0	2	3	18	HP:0031047;HP:0034786;HP:0100533
MONDO:0029141	Usher syndrome, type 4	direct	6	OMIM:618144	11	3	0	0	3	8	HP:0000510;HP:0000613;HP:0007947	OMIM:618144	11	3	0	0	3	8	HP:0000510;HP:0000613;HP:0007947
MONDO:0030028	neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline	direct	11	OMIM:618868	20	7	0	1	3	13	HP:0001337;HP:0002352;HP:0012751	OMIM:618868	20	7	0	1	3	13	HP:0001337;HP:0002352;HP:0012751
MONDO:0030045	Liberfarb syndrome	direct	9	OMIM:618889	13	5	0	1	3	8	HP:0000648;HP:0001382;HP:0002652	OMIM:618889	13	5	0	1	3	8	HP:0000648;HP:0001382;HP:0002652
MONDO:0030308	immunodeficiency 82 with systemic inflammation	direct	15	OMIM:619381	51	8	0	4	3	43	HP:0001508;HP:0011955;HP:0033429	OMIM:619381	51	8	0	4	3	43	HP:0001508;HP:0011955;HP:0033429
MONDO:0030428	immunodeficiency 85 and autoimmunity	direct	11	OMIM:619510	24	6	0	2	3	18	HP:0003765;HP:0006527;HP:0020178	OMIM:619510	24	6	0	2	3	18	HP:0003765;HP:0006527;HP:0020178
MONDO:0030553	acromesomelic dysplasia 4	direct	7	OMIM:619636	43	1	2	1	3	42	HP:0001156;HP:0001377;HP:0010579	OMIM:619636	43	1	2	1	3	42	HP:0001156;HP:0001377;HP:0010579
MONDO:0030723	hearing loss, autosomal dominant 83	direct	3	OMIM:619808	5	0	0	0	3	5	HP:0000408;HP:0005101;HP:0006958	OMIM:619808	5	0	0	0	3	5	HP:0000408;HP:0005101;HP:0006958
MONDO:0032634	mitochondrial complex I deficiency, nuclear type 31	direct	10	OMIM:618251	19	5	1	1	3	14	HP:0000648;HP:0002093;HP:0007183	OMIM:618251	19	5	1	1	3	14	HP:0000648;HP:0002093;HP:0007183
MONDO:0032635	mitochondrial complex I deficiency, nuclear type 32	direct	10	OMIM:618252	18	6	0	1	3	12	HP:0001712;HP:0012751;HP:0033369	OMIM:618252	18	6	0	1	3	12	HP:0001712;HP:0012751;HP:0033369
MONDO:0032758	neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia	direct	14	OMIM:618451	32	10	0	1	3	22	HP:0001999;HP:0002059;HP:0002540	OMIM:618451	32	10	0	1	3	22	HP:0001999;HP:0002059;HP:0002540
MONDO:0032775	neurodevelopmental disorder with seizures and speech and walking impairment	direct	7	OMIM:618480	31	4	0	0	3	27	HP:0000252;HP:0001249;HP:0001999	OMIM:618480	31	4	0	0	3	27	HP:0000252;HP:0001249;HP:0001999
MONDO:0032790	neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	direct	27	OMIM:618505	233	22	0	2	3	211	HP:0001655;HP:0002020;HP:0002282	OMIM:618505	233	22	0	2	3	211	HP:0001655;HP:0002020;HP:0002282
MONDO:0032842	Siddiqi syndrome	direct	8	OMIM:618635	13	4	0	1	3	9	HP:0000763;HP:0001249;HP:0001510	OMIM:618635	13	4	0	1	3	9	HP:0000763;HP:0001249;HP:0001510
MONDO:0033554	immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia	direct	9	OMIM:618986	28	6	0	0	3	22	HP:0001581;HP:0004429;HP:0005387	OMIM:618986	28	6	0	0	3	22	HP:0001581;HP:0004429;HP:0005387
MONDO:0033558	autoinflammation, immune dysregulation, and eosinophilia	direct	17	OMIM:618999	15	14	0	0	3	1	HP:0000989;HP:0002583;HP:0002960	OMIM:618999	15	14	0	0	3	1	HP:0000989;HP:0002583;HP:0002960
MONDO:0033938	acute radiation syndrome	direct	6	ORPHA:454831	24	2	1	0	3	22	HP:0001875;HP:0001903;HP:0002719	ORPHA:454831	24	2	1	0	3	22	HP:0001875;HP:0001903;HP:0002719
MONDO:0034121	NAD(P)HX dehydratase deficiency	direct	13	OMIM:618321;ORPHA:555402	64	7	2	1	3	57	HP:0001324;HP:0002352;HP:0009830	OMIM:618321;ORPHA:555402	64	7	2	1	3	57	HP:0001324;HP:0002352;HP:0009830
MONDO:0044205	Shwachman-Diamond syndrome 2	direct	6	OMIM:617941	30	3	0	0	3	27	HP:0001876;HP:0004377;HP:0100255	OMIM:617941	30	3	0	0	3	27	HP:0001876;HP:0004377;HP:0100255
MONDO:0044315	craniosynostosis 7	direct	5	OMIM:617439	4	0	2	0	3	4	HP:0001249;HP:0002516;HP:0011330	OMIM:617439	4	0	2	0	3	4	HP:0001249;HP:0002516;HP:0011330
MONDO:0054782	leukodystrophy, hypomyelinating, 15	direct	18	OMIM:617951	38	12	0	3	3	26	HP:0001249;HP:0008936;HP:0012762	OMIM:617951	38	12	0	3	3	26	HP:0001249;HP:0008936;HP:0012762
MONDO:0054785	multiple mitochondrial dysfunctions syndrome 6	direct	9	OMIM:617954	27	6	0	0	3	21	HP:0000639;HP:0001260;HP:0007146	OMIM:617954	27	6	0	0	3	21	HP:0000639;HP:0001260;HP:0007146
MONDO:0060527	maleylacetoacetate isomerase deficiency	direct	3	OMIM:617596	2	0	0	0	3	2	HP:0031980;HP:6000598;HP:6001410	OMIM:617596	2	0	0	0	3	2	HP:0031980;HP:6000598;HP:6001410
MONDO:0060556	joint laxity, short stature, and myopia	direct	15	OMIM:617662	17	6	1	5	3	11	HP:0000668;HP:0001627;HP:0001999	OMIM:617662	17	6	1	5	3	11	HP:0000668;HP:0001627;HP:0001999
MONDO:0060568	Pilarowski-Bjornsson syndrome	direct	11	OMIM:617682;ORPHA:529965	27	8	0	0	3	19	HP:0001999;HP:0002353;HP:0002553	OMIM:617682;ORPHA:529965	27	8	0	0	3	19	HP:0001999;HP:0002353;HP:0002553
MONDO:0060592	Sweeney-Cox syndrome	direct	52	OMIM:617746	51	49	0	0	3	2	HP:0004440;HP:0005466;HP:0011224	OMIM:617746	51	49	0	0	3	2	HP:0004440;HP:0005466;HP:0011224
MONDO:0100553	OPTN-related open angle glaucoma	direct	4	OMIM:137760	3	1	0	0	3	2	HP:0007854;HP:0012796;HP:0020119	OMIM:137760	3	1	0	0	3	2	HP:0007854;HP:0012796;HP:0020119
MONDO:0800044	congenital disorder of deglycosylation 1	direct	18	OMIM:615273;ORPHA:404454	148	11	1	3	3	137	HP:0003146;HP:0003233;HP:0011968	OMIM:615273;ORPHA:404454	148	11	1	3	3	137	HP:0003146;HP:0003233;HP:0011968
MONDO:0800047	macrothrombocytopenia, isolated, 1, autosomal dominant	direct	5	OMIM:613112	4	1	0	1	3	3	HP:0000851;HP:0001892;HP:0001902	OMIM:613112	4	1	0	1	3	3	HP:0000851;HP:0001892;HP:0001902
MONDO:0800130	autoinflammatory syndrome with immunodeficiency	direct	8	OMIM:619375	22	4	0	1	3	18	HP:0001890;HP:0004313;HP:0011123	OMIM:619375	22	4	0	1	3	18	HP:0001890;HP:0004313;HP:0011123
MONDO:0800448	leukoencephalopathy with vanishing white matter	direct	9	ORPHA:135	55	4	2	0	3	51	HP:0001259;HP:0002073;HP:0002352	OMIM:603896;OMIM:615889;OMIM:620312;OMIM:620313;OMIM:620314;OMIM:620315;ORPHA:135	109	7	2	0	0	102	
MONDO:0800504	idiopathic pulmonary fibrosis	direct	9	ORPHA:2032	20	3	1	2	3	17	HP:0002091;HP:0002092;HP:0002878	ORPHA:2032	20	3	1	2	3	17	HP:0002091;HP:0002092;HP:0002878
MONDO:0859202	developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities	direct	11	OMIM:619595	32	6	0	2	3	26	HP:0001263;HP:0002360;HP:0002870	OMIM:619595	32	6	0	2	3	26	HP:0001263;HP:0002360;HP:0002870
MONDO:0957807	hyper-IgE syndrome 6, autosomal dominant, with recurrent infections	direct	15	OMIM:620532	17	9	1	2	3	8	HP:0002716;HP:0003193;HP:0004944	OMIM:620532	17	9	1	2	3	8	HP:0002716;HP:0003193;HP:0004944
MONDO:0957824	optic atrophy 14	direct	6	OMIM:620550	5	3	0	0	3	2	HP:0000648;HP:0000649;HP:0020119	OMIM:620550	5	3	0	0	3	2	HP:0000648;HP:0000649;HP:0020119
MONDO:0958006	spondyloepimetaphyseal dysplasia, Guo-Campeau type	direct	7	OMIM:620663	60	4	0	0	3	56	HP:0001999;HP:0002656;HP:0100255	OMIM:620663	60	4	0	0	3	56	HP:0001999;HP:0002656;HP:0100255
MONDO:0958241	cardiomyopathy, familial hypertrophic, 30, atrial	direct	9	OMIM:620734	10	6	0	0	3	4	HP:0001685;HP:0020184;HP:0200127	OMIM:620734	10	6	0	0	3	4	HP:0001685;HP:0020184;HP:0200127
MONDO:0968945	neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder	direct	10	OMIM:620782	38	3	1	3	3	35	HP:0001249;HP:0002086;HP:0011968	OMIM:620782	38	3	1	3	3	35	HP:0001249;HP:0002086;HP:0011968
MONDO:0970945	developmental and epileptic encephalopathy 116	direct	10	OMIM:620806	21	2	2	3	3	19	HP:0001276;HP:0002059;HP:0012751	OMIM:620806	21	2	2	3	3	19	HP:0001276;HP:0002059;HP:0012751
MONDO:0975835	bronchiectasis and nasal polyposis	direct	10	OMIM:620984	14	6	0	1	3	8	HP:0000445;HP:0008222;HP:5210057	OMIM:620984	14	6	0	1	3	8	HP:0000445;HP:0008222;HP:5210057
MONDO:0979871	Alsahan-Harris syndrome	direct	15	OMIM:621307	83	7	0	5	3	76	HP:0000407;HP:0000510;HP:0001999	OMIM:621307	83	7	0	5	3	76	HP:0000407;HP:0000510;HP:0001999
MONDO:0980755	mitochondrial complex IV deficiency, nuclear type 24	direct	3	OMIM:621431	53	0	0	0	3	53	HP:0002134;HP:0002180;HP:0002363	OMIM:621431	53	0	0	0	3	53	HP:0002134;HP:0002180;HP:0002363
MONDO:8000010	antiphospholipid syndrome	direct	19	ORPHA:80	39	15	1	0	3	24	HP:0001654;HP:0002076;HP:0002204	OMIM:107320;ORPHA:464343;ORPHA:80	83	19	0	0	0	64	
MONDO:0000212	hypercalcemia, infantile	subtree_only	16									OMIM:143880;OMIM:616963	17	13	0	0	3	4	HP:0000822;HP:0002019;HP:0012622
MONDO:0000819	anencephaly	subtree_only	5									OMIM:206500;OMIM:619452;ORPHA:1048;ORPHA:2177;ORPHA:563609	46	2	0	0	3	44	HP:0001561;HP:0030716;HP:0030769
MONDO:0001309	oculomotor nerve paralysis	subtree_only	10									OMIM:126800;OMIM:136480;OMIM:157900;OMIM:260540;OMIM:601104;OMIM:604356;OMIM:609454;OMIM:617041;ORPHA:233;ORPHA:240071;ORPHA:240085;ORPHA:240094;ORPHA:240103;ORPHA:240112;ORPHA:2560;ORPHA:570;ORPHA:683;ORPHA:99750	252	5	2	0	3	247	HP:0002315;HP:0007695;HP:0011499
MONDO:0001422	primary aldosteronism	subtree_only	13									OMIM:103900;OMIM:605635;OMIM:613677;OMIM:615474;OMIM:617027;ORPHA:231580;ORPHA:231625;ORPHA:231632;ORPHA:251274;ORPHA:369929;ORPHA:403;ORPHA:404	69	9	1	0	3	60	HP:0000819;HP:0001635;HP:0005110
MONDO:0001713	inherited aplastic anemia	subtree_only	14									OMIM:105650;OMIM:227645;OMIM:227646;OMIM:227650;OMIM:300514;OMIM:300946;OMIM:600901;OMIM:603467;OMIM:605724;OMIM:606164;OMIM:609053;OMIM:609054;OMIM:610629;OMIM:610832;OMIM:612527;OMIM:612528;OMIM:612561;OMIM:612562;OMIM:612563;OMIM:613308;OMIM:613309;OMIM:613390;OMIM:613951;OMIM:614082;OMIM:614083;OMIM:614675;OMIM:614900;OMIM:615272;OMIM:615550;OMIM:615715;OMIM:615909;OMIM:616435;OMIM:617243;OMIM:617244;OMIM:617247;OMIM:617408;OMIM:617409;OMIM:617784;OMIM:617883;OMIM:618310;OMIM:618312;OMIM:618313;OMIM:620072;OMIM:621258;OMIM:621262;ORPHA:124;ORPHA:84	435	9	2	0	3	426	HP:0001738;HP:0002206;HP:0008404
MONDO:0005015	diabetes mellitus	subtree_only	18									OMIM:125850;OMIM:125851;OMIM:125853;OMIM:137920;OMIM:222100;OMIM:520000;OMIM:600496;OMIM:601410;OMIM:606176;OMIM:606392;OMIM:606394;OMIM:609069;OMIM:609812;OMIM:610199;OMIM:610374;OMIM:610508;OMIM:610582;OMIM:612225;OMIM:613370;OMIM:613375;OMIM:616026;OMIM:616329;OMIM:616511;OMIM:618856;OMIM:618857;OMIM:618858;OMIM:621196;ORPHA:552;ORPHA:65288;ORPHA:79134;ORPHA:93111;ORPHA:99885;ORPHA:99886	231	11	4	0	3	220	HP:0001677;HP:0004950;HP:0012378
MONDO:0005034	thyroid gland follicular carcinoma	subtree_only	3									OMIM:155240;OMIM:188470;OMIM:616534;OMIM:616535;ORPHA:1332	23	0	0	0	3	23	HP:0002094;HP:0002653;HP:0025388
MONDO:0005075	thyroid gland papillary carcinoma	subtree_only	4									OMIM:188550	4	0	0	1	3	4	HP:0002716;HP:0012378;HP:0025388
MONDO:0005086	renal cell carcinoma	subtree_only	5									OMIM:136520;OMIM:144700;OMIM:165550;OMIM:202300;OMIM:300854;OMIM:605074;OMIM:617141;OMIM:617142;ORPHA:1501	54	1	1	0	3	53	HP:0002094;HP:0002653;HP:0030157
MONDO:0005096	squamous cell carcinoma	subtree_only	4									OMIM:275355;ORPHA:424019;ORPHA:99977	21	0	0	1	3	21	HP:0000953;HP:0000962;HP:0004950
MONDO:0005361	eosinophilic esophagitis	subtree_only	5									OMIM:610247;OMIM:613412	7	2	0	0	3	5	HP:0002043;HP:0011968;HP:0031984
MONDO:0006359	neoplasm with perivascular epithelioid cell differentiation	subtree_only	6									OMIM:606690;ORPHA:538	37	3	0	0	3	34	HP:0031500;HP:0032445;HP:0034832
MONDO:0006507	hereditary hemochromatosis	subtree_only	18									OMIM:231100;OMIM:235200;OMIM:601195;OMIM:602390;OMIM:604250;OMIM:606069;OMIM:613313;OMIM:615517;ORPHA:139507;ORPHA:225123;ORPHA:446;ORPHA:79230	98	12	3	0	3	86	HP:0000821;HP:0001824;HP:0003199
MONDO:0008315	prostate cancer	subtree_only	4									OMIM:176807;OMIM:300147;OMIM:601518	5	1	0	0	3	4	HP:0000079;HP:0002653;HP:0012378
MONDO:0011122	obesity disorder	subtree_only	11									OMIM:600955;OMIM:601665;OMIM:609734;OMIM:614962;OMIM:614963;OMIM:615703;ORPHA:179494;ORPHA:369873;ORPHA:66628;ORPHA:71526;ORPHA:71528;ORPHA:71529	90	6	0	2	3	84	HP:0002829;HP:0010535;HP:0012378
MONDO:0012061	familial sick sinus syndrome	subtree_only	8									OMIM:163800;OMIM:182190;OMIM:608567;OMIM:619464	38	4	0	1	3	34	HP:0001962;HP:0003546;HP:0012378
MONDO:0015301	primary cutaneous amyloidosis	subtree_only	11									OMIM:105250;OMIM:613955;OMIM:617920;ORPHA:49804	14	3	4	1	3	11	HP:0000962;HP:0001010;HP:0007427
MONDO:0015486	keratoconus	subtree_only	6									OMIM:148300;OMIM:614622;OMIM:614623;OMIM:614628;OMIM:614629;OMIM:617928	7	2	1	0	3	5	HP:0000559;HP:0012040;HP:6001232
MONDO:0015609	advanced sleep phase syndrome	subtree_only	5									OMIM:604348;OMIM:615224;OMIM:616882;OMIM:620015	7	1	0	1	3	6	HP:0002329;HP:0012689;HP:0031356
MONDO:0016602	citrin deficiency	subtree_only	17									OMIM:603471;OMIM:605814;ORPHA:247585;ORPHA:247598	97	12	1	1	3	85	HP:0001249;HP:0001518;HP:0001943
MONDO:0017623	PTEN hamartoma tumor syndrome	subtree_only	15									OMIM:176920;ORPHA:109;ORPHA:137608;ORPHA:2969;ORPHA:744	193	6	6	0	3	187	HP:0000717;HP:0001263;HP:0007482
MONDO:0018944	gestational trophoblastic neoplasm	subtree_only	5									OMIM:231090;OMIM:614293;ORPHA:99925;ORPHA:99926;ORPHA:99928	13	0	2	0	3	13	HP:0000836;HP:0034263;HP:6000485
MONDO:0019262	juvenile neuronal ceroid lipofuscinosis	subtree_only	11									OMIM:609055;ORPHA:314632	35	4	2	2	3	31	HP:0000546;HP:0000708;HP:0002376
MONDO:0019347	peeling skin syndrome	subtree_only	11									OMIM:270300;OMIM:607936;OMIM:609796;OMIM:616265;OMIM:617115;OMIM:618084;ORPHA:263534	39	6	2	0	3	33	HP:0025819;HP:0032541;HP:0100825
MONDO:0019464	heavy chain disease	subtree_only	23									ORPHA:100024;ORPHA:100025;ORPHA:100026	36	15	5	0	3	21	HP:0002028;HP:0005214;HP:0012050
MONDO:0019992	pseudohypoparathyroidism	subtree_only	14									OMIM:103580;OMIM:203330;OMIM:603233;OMIM:612462;OMIM:612463;ORPHA:79443;ORPHA:79444;ORPHA:79445;ORPHA:94089;ORPHA:94090	88	11	0	0	3	77	HP:0001263;HP:0001281;HP:0007099
MONDO:0042981	aortic valve stenosis	subtree_only	9									OMIM:185500;ORPHA:3093;ORPHA:3193	27	6	0	0	3	21	HP:0001635;HP:0001647;HP:0001685
MONDO:0100438	AIPL1-related retinopathy	subtree_only	8									OMIM:604393	12	2	1	2	3	10	HP:0000518;HP:0000550;HP:0008020
MONDO:0100485	KCNH1 associated disorder	subtree_only	23									OMIM:135500;OMIM:611816;ORPHA:420561	99	14	4	2	3	85	HP:0000729;HP:0002808;HP:0032524
MONDO:0700115	proliferative vitreoretinopathy	subtree_only	4									OMIM:193235	10	0	1	0	3	10	HP:0008052;HP:0030652;HP:0100014
MONDO:0700238	BEST1-related dominant retinopathy	subtree_only	6									OMIM:153700;ORPHA:1243	11	2	0	1	3	9	HP:0007401;HP:0007677;HP:0011506
MONDO:0800394	MERTK-related retinopathy	subtree_only	7									OMIM:613862	9	4	0	0	3	5	HP:0000512;HP:0007663;HP:0007814
MONDO:1040063	KCNV2-related retinopathy	subtree_only	4									OMIM:610356	11	1	0	0	3	10	HP:0000551;HP:0025010;HP:0030466
MONDO:0000136	keratosis follicularis spinulosa decalvans	direct	19	ORPHA:2340	17	17	0	0	2	0	HP:0000491;HP:0006297	OMIM:308800;OMIM:612843;ORPHA:2340	31	19	0	0	0	12	
MONDO:0000211	striatal degeneration, autosomal dominant	direct	11	ORPHA:228169	7	7	1	1	2	0	HP:0001300;HP:0040140	OMIM:609161;OMIM:616922;ORPHA:228169	23	10	0	1	0	13	
MONDO:0001956	capillary leak syndrome	direct	4	ORPHA:188	23	1	0	1	2	22	HP:0001899;HP:0003073	ORPHA:188	23	1	0	1	2	22	HP:0001899;HP:0003073
MONDO:0002728	rhabdoid tumor	direct	5	ORPHA:69077	24	2	1	0	2	22	HP:0031459;HP:0031500	OMIM:609322;OMIM:613325;ORPHA:69077;ORPHA:99966	42	2	1	0	2	40	HP:0031459;HP:0031500
MONDO:0002735	anal canal adenocarcinoma	direct	3	ORPHA:424016	12	1	0	0	2	11	HP:0002573;HP:0500005	ORPHA:424016	12	1	0	0	2	11	HP:0002573;HP:0500005
MONDO:0005116	Whipple disease	direct	10	ORPHA:3452	47	4	1	3	2	43	HP:0002094;HP:0100543	ORPHA:3452	47	4	1	3	2	43	HP:0002094;HP:0100543
MONDO:0005124	leprosy	direct	5	ORPHA:548	47	1	0	2	2	46	HP:0000979;HP:0012219	ORPHA:548	47	1	0	2	2	46	HP:0000979;HP:0012219
MONDO:0005298	osteoporosis	direct	5	OMIM:166710	2	0	0	1	4	2	HP:0000002;HP:0002808;HP:0002953;HP:0031846	OMIM:166710;OMIM:612286;OMIM:612287;ORPHA:85193	14	2	0	1	2	12	HP:0000002;HP:0031846
MONDO:0005692	cat-scratch disease	direct	6	ORPHA:50839	22	3	0	1	2	19	HP:0002383;HP:0011123	ORPHA:50839	22	3	0	1	2	19	HP:0002383;HP:0011123
MONDO:0005824	Legionnaires' disease	direct	10	ORPHA:549	42	4	3	1	2	38	HP:0001289;HP:0003201	ORPHA:549	42	4	3	1	2	38	HP:0001289;HP:0003201
MONDO:0005835	Lynch syndrome	direct	5	ORPHA:144	62	1	1	1	2	61	HP:0030153;HP:0040274	OMIM:120435;OMIM:609310;OMIM:613244;OMIM:614337;OMIM:614350;ORPHA:144	70	1	1	1	2	69	HP:0030153;HP:0040274
MONDO:0006248	hydatidiform mole	direct	3	ORPHA:99927	7	1	0	0	2	6	HP:0034263;HP:6000485	OMIM:231090;OMIM:614293;OMIM:618431;OMIM:618432;ORPHA:99925;ORPHA:99927	14	1	0	0	2	13	HP:0034263;HP:6000485
MONDO:0006456	thymoma	direct	4	ORPHA:99867	37	2	0	0	2	35	HP:0002719;HP:0033827	OMIM:274230;ORPHA:99867	41	2	0	0	2	39	HP:0002719;HP:0033827
MONDO:0006486	uveal melanoma	direct	3	OMIM:155720	2	1	0	0	2	1	HP:0001123;HP:0007663	OMIM:155720	2	1	0	0	2	1	HP:0001123;HP:0007663
MONDO:0006702	chronic inflammatory demyelinating polyradiculoneuropathy	direct	4	ORPHA:2932	17	1	1	0	2	16	HP:0003690;HP:0012378	ORPHA:2932	17	1	1	0	2	16	HP:0003690;HP:0012378
MONDO:0007032	prune belly syndrome	direct	17	OMIM:100100;ORPHA:2970	40	7	4	4	2	33	HP:0000110;HP:0001622	OMIM:100100;ORPHA:2970	40	7	4	4	2	33	HP:0000110;HP:0001622
MONDO:0007034	Adams-Oliver syndrome	direct	9	ORPHA:974	46	2	1	4	2	44	HP:0008404;HP:0025107	OMIM:100300;OMIM:614219;OMIM:614814;OMIM:615297;OMIM:616028;OMIM:616589;ORPHA:974	136	4	0	5	0	132	
MONDO:0007098	ACys amyloidosis	direct	6	OMIM:105150;ORPHA:100008	9	4	0	0	2	5	HP:0000751;HP:0001269	OMIM:105150;ORPHA:100008	9	4	0	0	2	5	HP:0000751;HP:0001269
MONDO:0007222	brachydactyly type D	direct	5	OMIM:113200	4	3	0	0	2	1	HP:0009650;HP:0010076	OMIM:113200	4	3	0	0	2	1	HP:0009650;HP:0010076
MONDO:0007289	cataract 13 with adult I phenotype	direct	3	OMIM:116700	2	1	0	0	2	1	HP:0000505;HP:0010970	OMIM:116700	2	1	0	0	2	1	HP:0000505;HP:0010970
MONDO:0007294	central core myopathy	direct	14	OMIM:117000;ORPHA:597	42	6	4	2	2	36	HP:0002058;HP:0003201	OMIM:117000;ORPHA:597	42	6	4	2	2	36	HP:0002058;HP:0003201
MONDO:0007297	ADan amyloidosis	direct	8	OMIM:117300	10	3	2	1	2	7	HP:0001260;HP:0011999	OMIM:117300	10	3	2	1	2	7	HP:0001260;HP:0011999
MONDO:0007301	cerebrocostomandibular syndrome	direct	15	OMIM:117650;ORPHA:1393	62	10	1	2	2	52	HP:0000047;HP:0001263	OMIM:117650;ORPHA:1393	62	10	1	2	2	52	HP:0000047;HP:0001263
MONDO:0007315	cherubism	direct	8	OMIM:118400;ORPHA:184	33	6	0	0	2	27	HP:0000283;HP:0000326	OMIM:118400;ORPHA:184	33	6	0	0	2	27	HP:0000283;HP:0000326
MONDO:0007316	Chiari malformation type I	direct	12	OMIM:118420;ORPHA:268882	53	8	1	1	2	45	HP:0002483;HP:0033151	OMIM:118420;ORPHA:268882	53	8	1	1	2	45	HP:0002483;HP:0033151
MONDO:0007405	Crouzon syndrome	direct	14	OMIM:123500;ORPHA:207	51	12	0	0	2	39	HP:0000377;HP:0001085	OMIM:123500;ORPHA:207	51	12	0	0	2	39	HP:0000377;HP:0001085
MONDO:0007412	Beare-Stevenson cutis gyrata syndrome	direct	19	OMIM:123790;ORPHA:1555	76	14	2	1	2	62	HP:0001508;HP:0005347	OMIM:123790;ORPHA:1555	76	14	2	1	2	62	HP:0001508;HP:0005347
MONDO:0007571	primary erythermalgia	direct	5	OMIM:133020;ORPHA:90026	27	2	1	0	2	25	HP:0012398;HP:0200042	OMIM:133020;ORPHA:90026	27	2	1	0	2	25	HP:0012398;HP:0200042
MONDO:0007606	fibrodysplasia ossificans progressiva	direct	21	OMIM:135100;ORPHA:337	54	15	2	2	2	39	HP:0000211;HP:0002091	OMIM:135100;ORPHA:337	54	15	2	2	2	39	HP:0000211;HP:0002091
MONDO:0007630	North Carolina macular dystrophy	direct	7	OMIM:136550	9	4	1	0	2	5	HP:0007401;HP:0011506	OMIM:136550	9	4	1	0	2	5	HP:0007401;HP:0011506
MONDO:0007635	Frasier syndrome	direct	11	OMIM:136680;ORPHA:347	21	7	2	0	2	14	HP:0000823;HP:0012245	OMIM:136680;ORPHA:347	21	7	2	0	2	14	HP:0000823;HP:0012245
MONDO:0007661	Tourette syndrome	direct	6	OMIM:137580	9	3	1	0	2	6	HP:0000716;HP:0000739	OMIM:137580	9	3	1	0	2	6	HP:0000716;HP:0000739
MONDO:0007766	Morgagni-Stewart-Morel syndrome	direct	12	ORPHA:77296	30	9	1	0	2	21	HP:0000141;HP:0100829	ORPHA:77296	30	9	1	0	2	21	HP:0000141;HP:0100829
MONDO:0007818	hyper-IgE recurrent infection syndrome 1, autosomal dominant	direct	20	OMIM:147060;ORPHA:2314	87	17	1	0	2	70	HP:0002579;HP:0005116	OMIM:147060;ORPHA:2314	87	17	1	0	2	70	HP:0002579;HP:0005116
MONDO:0007844	hypogonadotropic hypogonadism 2 with or without anosmia	direct	13	OMIM:147950	25	7	0	4	2	18	HP:0000789;HP:0012165	OMIM:147950	25	7	0	4	2	18	HP:0000789;HP:0012165
MONDO:0007864	angioosteohypertrophic syndrome	direct	4	OMIM:149000;ORPHA:90308	44	0	2	0	2	44	HP:0001052;HP:0012531	OMIM:149000;ORPHA:90308	44	0	2	0	2	44	HP:0001052;HP:0012531
MONDO:0007969	Melkersson-Rosenthal syndrome	direct	4	OMIM:155900;ORPHA:2483	17	2	0	0	2	15	HP:0002076;HP:0007209	OMIM:155900;ORPHA:2483	17	2	0	0	2	15	HP:0002076;HP:0007209
MONDO:0007987	Kniest dysplasia	direct	20	OMIM:156550;ORPHA:485	77	15	2	1	2	62	HP:0000774;HP:0001762	OMIM:156550;ORPHA:485	77	15	2	1	2	62	HP:0000774;HP:0001762
MONDO:0008102	sick sinus syndrome 2, autosomal dominant	direct	12	OMIM:163800	28	7	1	2	2	21	HP:0004970;HP:0012818	OMIM:163800	28	7	1	2	2	21	HP:0004970;HP:0012818
MONDO:0008114	obsessive-compulsive disorder	direct	5	OMIM:164230	6	2	1	0	2	4	HP:0100543;HP:0100710	OMIM:164230	6	2	1	0	2	4	HP:0100543;HP:0100710
MONDO:0008134	autosomal dominant optic atrophy, classic form	direct	9	OMIM:165500;ORPHA:98673	57	3	2	2	2	54	HP:0000512;HP:0020119	OMIM:165500;ORPHA:98673	57	3	2	2	2	54	HP:0000512;HP:0020119
MONDO:0008156	autosomal dominant osteopetrosis 2	direct	19	OMIM:166600;ORPHA:53	47	17	0	0	2	30	HP:0004618;HP:0004975	OMIM:166600;ORPHA:53	47	17	0	0	2	30	HP:0004618;HP:0004975
MONDO:0008218	Hailey-Hailey disease	direct	4	OMIM:169600;ORPHA:2841	6	2	0	0	2	4	HP:0000989;HP:0200035	OMIM:169600;ORPHA:2841	6	2	0	0	2	4	HP:0000989;HP:0200035
MONDO:0008294	acute intermittent porphyria	direct	21	OMIM:176000;ORPHA:79276	60	18	1	0	2	42	HP:0000709;HP:0002273	OMIM:176000;ORPHA:79276	60	18	1	0	2	42	HP:0000709;HP:0002273
MONDO:0008310	Hutchinson-Gilford progeria syndrome	direct	6	OMIM:176670;ORPHA:740	104	1	2	1	2	103	HP:0034392;HP:0100324	OMIM:176670;ORPHA:740	104	1	2	1	2	103	HP:0034392;HP:0100324
MONDO:0008332	platelet-type von Willebrand disease	direct	5	OMIM:177820	3	1	0	2	2	2	HP:0001902;HP:0011877	OMIM:153670;OMIM:177820	18	3	1	1	0	15	
MONDO:0008338	contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A	direct	10	OMIM:178110	35	6	0	2	2	29	HP:0000347;HP:0001762	OMIM:178110	35	6	0	2	2	29	HP:0000347;HP:0001762
MONDO:0008371	Dowling-Degos disease	direct	6	ORPHA:79145	25	1	1	1	3	24	HP:0001053;HP:0025249;HP:6000745	OMIM:179850;OMIM:615327;OMIM:615674;OMIM:615696;ORPHA:79145	35	2	1	1	2	33	HP:0001053;HP:0025249
MONDO:0008477	spondylometaphyseal dysplasia, Kozlowski type	direct	20	OMIM:184252;ORPHA:93314	67	15	1	2	2	52	HP:0002196;HP:0002653	OMIM:184252;ORPHA:93314	67	15	1	2	2	52	HP:0002196;HP:0002653
MONDO:0008501	Sturge-Weber syndrome	direct	8	OMIM:185300;ORPHA:3205	53	4	2	0	2	49	HP:0001052;HP:0001269	OMIM:185300;ORPHA:3205	53	4	2	0	2	49	HP:0001052;HP:0001269
MONDO:0008523	Blau syndrome	direct	11	OMIM:186580;ORPHA:90340	57	4	2	3	2	53	HP:0002652;HP:0006530	OMIM:186580;ORPHA:90340	57	4	2	3	2	53	HP:0002652;HP:0006530
MONDO:0008708	acrocallosal syndrome	direct	16	OMIM:200990;ORPHA:36	90	12	2	0	2	78	HP:0002419;HP:0012725	OMIM:200990;ORPHA:36	90	12	2	0	2	78	HP:0002419;HP:0012725
MONDO:0008723	very long chain acyl-CoA dehydrogenase deficiency	direct	15	OMIM:201475;ORPHA:26793	66	9	1	3	2	57	HP:0003128;HP:0003546	OMIM:201475;ORPHA:26793	66	9	1	3	2	57	HP:0003128;HP:0003546
MONDO:0008752	Alexander disease	direct	24	OMIM:203450;ORPHA:58	82	22	0	0	2	60	HP:0001263;HP:0002352	OMIM:203450;ORPHA:363717;ORPHA:363722;ORPHA:58	99	23	0	1	0	76	
MONDO:0008788	IRIDA syndrome	direct	7	OMIM:206200;ORPHA:209981	13	5	0	0	2	8	HP:0003281;HP:0040133	OMIM:206200;ORPHA:209981	13	5	0	0	2	8	HP:0003281;HP:0040133
MONDO:0008815	argininosuccinic aciduria	direct	13	OMIM:207900;ORPHA:23	65	9	0	2	2	56	HP:0001252;HP:0001298	OMIM:207900;ORPHA:23	65	9	0	2	2	56	HP:0001252;HP:0001298
MONDO:0008885	Elsahy-Waters syndrome	direct	15	OMIM:211380;ORPHA:1299	104	10	2	1	2	94	HP:0001072;HP:0001596	OMIM:211380;ORPHA:1299	104	10	2	1	2	94	HP:0001072;HP:0001596
MONDO:0008887	bronchiectasis with or without elevated sweat chloride 1	direct	4	OMIM:211400	5	2	0	0	2	3	HP:0002205;HP:0031245	OMIM:211400	5	2	0	0	2	3	HP:0002205;HP:0031245
MONDO:0008891	riboflavin transporter deficiency	direct	11	ORPHA:97229	35	6	0	0	5	29	HP:0000407;HP:0000648;HP:0002366;HP:0010871;HP:0012473	OMIM:211500;OMIM:211530;OMIM:614707;ORPHA:97229	88	9	0	0	2	79	HP:0002366;HP:0010871
MONDO:0008895	hereditary arterial and articular multiple calcification syndrome	direct	6	OMIM:211800;ORPHA:289601	15	4	0	0	2	11	HP:0001369;HP:0002829	OMIM:211800;ORPHA:289601	15	4	0	0	2	11	HP:0001369;HP:0002829
MONDO:0008908	MGAT2-congenital disorder of glycosylation	direct	20	OMIM:212066;ORPHA:79329	98	15	1	2	2	83	HP:0002093;HP:0100704	OMIM:212066;ORPHA:79329	98	15	1	2	2	83	HP:0002093;HP:0100704
MONDO:0008918	carnitine-acylcarnitine translocase deficiency	direct	20	OMIM:212138;ORPHA:159	45	16	1	1	2	29	HP:0002098;HP:0011968	OMIM:212138;ORPHA:159	45	16	1	1	2	29	HP:0002098;HP:0011968
MONDO:0008922	Sengers syndrome	direct	7	OMIM:212350;ORPHA:1369	39	4	1	0	2	35	HP:0001635;HP:0010463	OMIM:212350;ORPHA:1369	39	4	1	0	2	35	HP:0001635;HP:0010463
MONDO:0008982	central areolar choroidal dystrophy	direct	6	ORPHA:75377	17	2	1	1	2	15	HP:0000512;HP:0007722	OMIM:215500;OMIM:613105;OMIM:613144;ORPHA:75377	20	2	1	1	2	18	HP:0000512;HP:0007722
MONDO:0009026	Costello syndrome	direct	17	OMIM:218040;ORPHA:3071	107	11	2	2	2	96	HP:0001290;HP:0002751	OMIM:218040;ORPHA:3071	107	11	2	2	2	96	HP:0001290;HP:0002751
MONDO:0009033	temtamy syndrome	direct	12	OMIM:218340;ORPHA:1777	50	6	1	3	2	44	HP:0000729;HP:0001627	OMIM:218340;ORPHA:1777	50	6	1	3	2	44	HP:0000729;HP:0001627
MONDO:0009050	Cushing disease due to pituitary adenoma	direct	14	OMIM:219090;ORPHA:96253	79	10	1	1	2	69	HP:0000858;HP:0004936	OMIM:219090;ORPHA:96253	79	10	1	1	2	69	HP:0000858;HP:0004936
MONDO:0009079	DOORS syndrome	direct	11	OMIM:220500;ORPHA:79500	116	8	1	0	2	108	HP:0008404;HP:0200134	OMIM:220500;ORPHA:79500	116	8	1	0	2	108	HP:0008404;HP:0200134
MONDO:0009104	Donnai-Barrow syndrome	direct	13	OMIM:222448;ORPHA:2143	44	10	0	1	2	34	HP:0000729;HP:0001999	OMIM:222448;ORPHA:2143	44	10	0	1	2	34	HP:0000729;HP:0001999
MONDO:0009115	congenital lactase deficiency	direct	4	OMIM:223000	7	2	0	0	2	5	HP:0000121;HP:0003072	OMIM:223000	7	2	0	0	2	5	HP:0000121;HP:0003072
MONDO:0009144	Ebstein anomaly	direct	14	OMIM:224700;ORPHA:1880	30	7	4	1	2	23	HP:0001789;HP:0003546	OMIM:224700;ORPHA:1880	30	7	4	1	2	23	HP:0001789;HP:0003546
MONDO:0009192	Wolcott-Rallison syndrome	direct	12	OMIM:226980;ORPHA:1667	72	10	0	0	2	62	HP:0001943;HP:0003467	OMIM:226980;ORPHA:1667	72	10	0	0	2	62	HP:0001943;HP:0003467
MONDO:0009262	GM1 gangliosidosis type 3	direct	4	OMIM:230650	29	2	0	0	2	27	HP:0001288;HP:0001300	OMIM:230650	29	2	0	0	2	27	HP:0001288;HP:0001300
MONDO:0009338	hepatic veno-occlusive disease-immunodeficiency syndrome	direct	6	OMIM:235550;ORPHA:79124	44	2	1	1	2	42	HP:0006554;HP:0020102	OMIM:235550;ORPHA:79124	44	2	1	1	2	42	HP:0006554;HP:0020102
MONDO:0009366	normal pressure hydrocephalus	direct	5	OMIM:236690	7	2	1	0	2	5	HP:0000012;HP:0002119	OMIM:236690	7	2	1	0	2	5	HP:0000012;HP:0002119
MONDO:0009377	hyperammonemia due to N-acetylglutamate synthase deficiency	direct	11	OMIM:237310;ORPHA:927	54	8	1	0	2	46	HP:0001249;HP:0002181	OMIM:237310;ORPHA:927	54	8	1	0	2	46	HP:0001249;HP:0002181
MONDO:0009414	glycogen storage disorder due to hepatic glycogen synthase deficiency	direct	10	OMIM:240600;ORPHA:2089	18	6	2	0	2	12	HP:0000938;HP:0012378	OMIM:240600;ORPHA:2089	18	6	2	0	2	12	HP:0000938;HP:0012378
MONDO:0009468	pseudotumor cerebri	direct	9	OMIM:243200;ORPHA:238624	23	6	0	1	2	17	HP:0004409;HP:0100543	OMIM:243200;ORPHA:238624	23	6	0	1	2	17	HP:0004409;HP:0100543
MONDO:0009475	isovaleric acidemia	direct	15	OMIM:243500;ORPHA:33	42	10	0	3	2	32	HP:0001943;HP:0006846	OMIM:243500;ORPHA:33	42	10	0	3	2	32	HP:0001943;HP:0006846
MONDO:0009520	3-hydroxy-3-methylglutaric aciduria	direct	15	OMIM:246450;ORPHA:20	72	13	0	0	2	59	HP:0002059;HP:0006554	OMIM:246450;ORPHA:20	72	13	0	0	2	59	HP:0002059;HP:0006554
MONDO:0009635	microvillus inclusion disease	direct	5	OMIM:251850;ORPHA:2290	18	3	0	0	2	15	HP:0001396;HP:0001508	OMIM:251850;ORPHA:2290	18	3	0	0	2	15	HP:0001396;HP:0001508
MONDO:0009661	mucopolysaccharidosis type 6	direct	11	OMIM:253200;ORPHA:583	79	8	1	0	2	71	HP:0002176;HP:0002781	OMIM:253200;ORPHA:583	79	8	1	0	2	71	HP:0002176;HP:0002781
MONDO:0009697	Lafora disease	direct	19	ORPHA:501	35	11	3	1	4	24	HP:0000505;HP:0001272;HP:0002015;HP:0002186	OMIM:254780;OMIM:620681;ORPHA:501	47	13	2	2	2	34	HP:0001272;HP:0002015
MONDO:0009737	galactosialidosis	direct	12	OMIM:256540;ORPHA:351	19	9	0	1	2	10	HP:0001014;HP:0001251	OMIM:256540;ORPHA:351	19	9	0	1	2	10	HP:0001014;HP:0001251
MONDO:0009744	neuronal ceroid lipofuscinosis 1	direct	6	OMIM:256730	33	2	0	2	2	31	HP:0002333;HP:0002376	OMIM:256730	33	2	0	2	2	31	HP:0002333;HP:0002376
MONDO:0009776	spermatogenic failure 1	direct	5	OMIM:258150	5	2	0	1	2	3	HP:0000027;HP:0012207	OMIM:258150	5	2	0	1	2	3	HP:0000027;HP:0012207
MONDO:0009796	ornithine aminotransferase deficiency	direct	11	OMIM:258870;ORPHA:414	24	7	1	1	2	17	HP:0030856;HP:0100543	OMIM:258870;ORPHA:414	24	7	1	1	2	17	HP:0030856;HP:0100543
MONDO:0009852	hereditary intrinsic factor deficiency	direct	5	OMIM:261000;ORPHA:332	25	1	0	2	2	24	HP:0001876;HP:0011458	OMIM:243320;OMIM:261000;ORPHA:332	27	2	0	1	2	25	HP:0001876;HP:0011458
MONDO:0009872	Bjornstad syndrome	direct	5	OMIM:262000;ORPHA:123	18	3	0	0	2	15	HP:0000750;HP:0011374	OMIM:262000;ORPHA:123	18	3	0	0	2	15	HP:0000750;HP:0011374
MONDO:0009894	short-rib thoracic dysplasia 6 with or without polydactyly	direct	9	OMIM:263520	42	5	0	2	2	37	HP:0001159;HP:0002983	OMIM:263520	42	5	0	2	2	37	HP:0001159;HP:0002983
MONDO:0009923	46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency	direct	13	OMIM:264600;ORPHA:753	15	11	0	0	2	4	HP:0001608;HP:0001939	OMIM:264600;ORPHA:753	15	11	0	0	2	4	HP:0001608;HP:0001939
MONDO:0009968	renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss	direct	9	OMIM:267300	33	5	0	2	2	28	HP:0002150;HP:0002748	OMIM:267300	33	5	0	2	2	28	HP:0002150;HP:0002748
MONDO:0009994	alveolar rhabdomyosarcoma	direct	2	OMIM:268220	2	0	0	0	2	2	HP:0000520;HP:0031459	OMIM:268220	2	0	0	0	2	2	HP:0000520;HP:0031459
MONDO:0010002	Rothmund-Thomson syndrome	direct	15	ORPHA:2909	56	7	4	2	2	49	HP:0011024;HP:0034697	OMIM:268400;OMIM:615789;OMIM:618625;OMIM:620819;ORPHA:221008;ORPHA:221016;ORPHA:2909	181	12	2	1	0	169	
MONDO:0010023	combined immunodeficiency due to ZAP70 deficiency	direct	17	OMIM:269840;ORPHA:911	52	10	2	3	2	42	HP:0020087;HP:5210426	OMIM:269840;ORPHA:911	52	10	2	3	2	42	HP:0020087;HP:5210426
MONDO:0010041	Charlevoix-Saguenay spastic ataxia	direct	15	OMIM:270550;ORPHA:98	68	9	3	1	2	59	HP:0000365;HP:0012795	OMIM:270550;ORPHA:98	68	9	3	1	2	59	HP:0000365;HP:0012795
MONDO:0010068	spondyloepimetaphyseal dysplasia, sponastrime type	direct	17	OMIM:271510;ORPHA:93357	97	14	1	0	2	83	HP:0001385;HP:0002967	OMIM:271510;ORPHA:93357	97	14	1	0	2	83	HP:0001385;HP:0002967
MONDO:0010094	spondylocarpotarsal synostosis syndrome	direct	16	OMIM:272460;ORPHA:3275	50	12	0	2	2	38	HP:0000311;HP:0001387	OMIM:272460;ORPHA:3275	50	12	0	2	2	38	HP:0000311;HP:0001387
MONDO:0010100	Tay-Sachs disease	direct	28	OMIM:272800;ORPHA:845	78	20	3	3	2	58	HP:0002360;HP:0006808	OMIM:272800;ORPHA:845	78	20	3	3	2	58	HP:0002360;HP:0006808
MONDO:0010122	congenital thrombotic thrombocytopenic purpura	direct	7	OMIM:274150	21	4	1	0	2	17	HP:0002027;HP:0002315	OMIM:274150	21	4	1	0	2	17	HP:0002027;HP:0002315
MONDO:0010160	tyrosinemia type II	direct	8	OMIM:276600;ORPHA:28378	24	4	2	0	2	20	HP:0000491;HP:0001131	OMIM:276600;ORPHA:28378	24	4	2	0	2	20	HP:0000491;HP:0001131
MONDO:0010232	intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked	direct	3	OMIM:300048	21	1	0	0	2	20	HP:0000011;HP:0032388	OMIM:300048	21	1	0	0	2	20	HP:0000011;HP:0032388
MONDO:0010246	developmental and epileptic encephalopathy, 9	direct	10	OMIM:300088	22	7	0	1	2	15	HP:0002373;HP:0033349	OMIM:300088	22	7	0	1	2	15	HP:0002373;HP:0033349
MONDO:0010281	Danon disease	direct	12	OMIM:300257;ORPHA:34587	59	9	0	1	2	50	HP:0000556;HP:0001712	OMIM:300257;ORPHA:34587	59	9	0	1	2	50	HP:0000556;HP:0001712
MONDO:0010296	immunodeficiency 61	direct	7	OMIM:300310	11	5	0	0	2	6	HP:0010976;HP:0012475	OMIM:300310	11	5	0	0	2	6	HP:0010976;HP:0012475
MONDO:0010327	HSD10 mitochondrial disease	direct	13	OMIM:300438;ORPHA:391417	58	8	0	3	2	50	HP:0000556;HP:0002180	OMIM:300438;ORPHA:391417;ORPHA:391428;ORPHA:391457;ORPHA:85295	90	9	0	4	0	81	
MONDO:0010382	fragile X-associated tremor/ataxia syndrome	direct	10	OMIM:300623;ORPHA:93256	57	7	0	1	2	50	HP:0030890;HP:0033051	OMIM:300623;ORPHA:93256	57	7	0	1	2	50	HP:0030890;HP:0033051
MONDO:0010417	syndromic X-linked intellectual disability Najm type	direct	27	OMIM:300749;ORPHA:163937	74	20	2	3	2	54	HP:0001251;HP:0100716	OMIM:300749;ORPHA:163937	74	20	2	3	2	54	HP:0001251;HP:0100716
MONDO:0010457	Ogden syndrome	direct	13	OMIM:300855;ORPHA:276432	149	7	1	3	2	142	HP:0001249;HP:0002643	OMIM:300855;ORPHA:276432	149	7	1	3	2	142	HP:0001249;HP:0002643
MONDO:0010516	midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis	direct	11	OMIM:300990	45	6	0	3	2	39	HP:0001263;HP:0001374	OMIM:300990	45	6	0	3	2	39	HP:0001263;HP:0001374
MONDO:0010543	Barth syndrome	direct	12	OMIM:302060;ORPHA:111	63	8	1	1	2	55	HP:0002718;HP:0011664	OMIM:302060;ORPHA:111	63	8	1	1	2	55	HP:0002718;HP:0011664
MONDO:0010555	X-linked chondrodysplasia punctata 1	direct	8	OMIM:302950;ORPHA:79345	64	5	1	0	2	59	HP:0001249;HP:0002098	OMIM:302950;ORPHA:79345	64	5	1	0	2	59	HP:0001249;HP:0002098
MONDO:0010578	deafness dystonia syndrome	direct	9	OMIM:304700;ORPHA:52368	55	7	0	0	2	48	HP:0001251;HP:0012675	OMIM:304700;ORPHA:52368	55	7	0	0	2	48	HP:0001251;HP:0012675
MONDO:0010653	Renpenning syndrome	direct	11	OMIM:309500;ORPHA:3242	83	7	0	2	2	76	HP:0000717;HP:0002282	OMIM:309500;ORPHA:3242;ORPHA:93945;ORPHA:93946;ORPHA:93947;ORPHA:93950	95	7	0	2	2	88	HP:0000717;HP:0002282
MONDO:0010711	TARP syndrome	direct	14	OMIM:311900;ORPHA:2886	73	11	0	1	2	62	HP:0000448;HP:0000565	OMIM:311900;ORPHA:2886	73	11	0	1	2	62	HP:0000448;HP:0000565
MONDO:0010737	spondyloepiphyseal dysplasia tarda, X-linked	direct	6	OMIM:313400	23	3	0	1	2	20	HP:0002656;HP:0008812	OMIM:313400	23	3	0	1	2	20	HP:0002656;HP:0008812
MONDO:0010787	Kearns-Sayre syndrome	direct	19	OMIM:530000;ORPHA:480	41	14	1	2	2	27	HP:0000135;HP:0002352	OMIM:530000;ORPHA:480	41	14	1	2	2	27	HP:0000135;HP:0002352
MONDO:0010794	NARP syndrome	direct	6	OMIM:551500;ORPHA:644	31	2	1	1	2	29	HP:0000815;HP:0000819	OMIM:551500;ORPHA:644	31	2	1	1	2	29	HP:0000815;HP:0000819
MONDO:0010799	deafness, aminoglycoside-induced	direct	2	OMIM:580000	2	0	0	0	2	2	HP:0001757;HP:0008619	OMIM:580000	2	0	0	0	2	2	HP:0001757;HP:0008619
MONDO:0010810	vitamin D hydroxylation-deficient rickets, type 1B	direct	10	OMIM:600081	34	6	2	0	2	28	HP:0000867;HP:0100512	OMIM:600081	34	6	2	0	2	28	HP:0000867;HP:0100512
MONDO:0010886	2q37 microdeletion syndrome	direct	17	OMIM:600430;ORPHA:1001	82	9	1	5	2	73	HP:0002119;HP:0002650	OMIM:600430;ORPHA:1001	82	9	1	5	2	73	HP:0002119;HP:0002650
MONDO:0010889	arterial dissection-lentiginosis syndrome	direct	5	OMIM:600459;ORPHA:1682	7	3	0	0	2	4	HP:0002315;HP:0002381	OMIM:600459;ORPHA:1682	7	3	0	0	2	4	HP:0002315;HP:0002381
MONDO:0010913	Caroli disease	direct	11	ORPHA:53035	31	8	1	0	2	23	HP:0005209;HP:0033149	ORPHA:53035	31	8	1	0	2	23	HP:0005209;HP:0033149
MONDO:0010916	polycystic kidney disease 3 with or without polycystic liver disease	direct	2	OMIM:600666	10	0	0	0	2	10	HP:0005562;HP:0006557	OMIM:600666	10	0	0	0	2	10	HP:0005562;HP:0006557
MONDO:0010922	Satoyoshi syndrome	direct	10	OMIM:600705;ORPHA:3130	39	6	2	0	2	33	HP:0000554;HP:0002027	OMIM:600705;ORPHA:3130	39	6	2	0	2	33	HP:0000554;HP:0002027
MONDO:0010924	D-2-hydroxyglutaric aciduria	direct	13	ORPHA:79315	13	6	1	1	5	7	HP:0000256;HP:0001249;HP:0002120;HP:0002500;HP:6001070	OMIM:600721;OMIM:613657;ORPHA:79315	37	8	1	2	2	29	HP:0002120;HP:6001070
MONDO:0010951	dilated cardiomyopathy 1B	direct	4	OMIM:600884	6	2	0	0	2	4	HP:0025169;HP:4000141	OMIM:600884	6	2	0	0	2	4	HP:0025169;HP:4000141
MONDO:0010952	hereditary hyperferritinemia with congenital cataracts	direct	6	OMIM:600886;ORPHA:163	11	3	1	0	2	8	HP:0000505;HP:0001891	OMIM:600886;ORPHA:163	11	3	1	0	2	8	HP:0000505;HP:0001891
MONDO:0011032	autosomal dominant nonsyndromic hearing loss 11	direct	3	OMIM:601317	4	1	0	0	2	3	HP:0005101;HP:0008596	OMIM:601317	4	1	0	0	2	3	HP:0005101;HP:0008596
MONDO:0011096	autosomal agammaglobulinemia	direct	20	ORPHA:33110	29	8	6	0	6	21	HP:0001639;HP:0002720;HP:0002850;HP:0004315;HP:0010976;HP:0030813	OMIM:601495;OMIM:612692;OMIM:613500;OMIM:613501;OMIM:613502;OMIM:613506;OMIM:615214;OMIM:616941;ORPHA:33110	58	17	1	0	2	41	HP:0001639;HP:0030813
MONDO:0011102	autosomal dominant nonsyndromic hearing loss 12	direct	6	OMIM:601543	2	1	3	0	2	1	HP:0005101;HP:0012781	OMIM:601543	2	1	3	0	2	1	HP:0005101;HP:0012781
MONDO:0011147	chromosome 18q deletion syndrome	direct	14	OMIM:601808;ORPHA:1600	116	8	1	3	2	108	HP:0000708;HP:0002960	OMIM:601808;ORPHA:1600	116	8	1	3	2	108	HP:0000708;HP:0002960
MONDO:0011152	PHGDH deficiency	direct	12	OMIM:601815;ORPHA:79351	55	8	0	2	2	47	HP:0001251;HP:0003477	OMIM:601815;ORPHA:79351	55	8	0	2	2	47	HP:0001251;HP:0003477
MONDO:0011224	monomelic amyotrophy	direct	10	OMIM:602440;ORPHA:65684	17	5	2	1	2	12	HP:0002176;HP:0002318	OMIM:602440;ORPHA:65684;ORPHA:99965	24	5	2	1	2	19	HP:0002176;HP:0002318
MONDO:0011243	grange syndrome	direct	11	OMIM:602531;ORPHA:79094	21	9	0	0	2	12	HP:0000316;HP:0000347	OMIM:602531;ORPHA:79094	21	9	0	0	2	12	HP:0000316;HP:0000347
MONDO:0011272	retinitis pigmentosa 25	direct	9	OMIM:602772	11	4	2	1	2	7	HP:0000529;HP:0011505	OMIM:602772	11	4	2	1	2	7	HP:0000529;HP:0011505
MONDO:0011275	acromesomelic dysplasia 1, Maroteaux type	direct	18	OMIM:602875;ORPHA:40	42	14	2	0	2	28	HP:0001773;HP:0005773	OMIM:602875;ORPHA:40	42	14	2	0	2	28	HP:0001773;HP:0005773
MONDO:0011323	arhinia, choanal atresia, and microphthalmia	direct	38	OMIM:603457;ORPHA:2250	52	36	0	0	2	16	HP:0000223;HP:0011968	OMIM:603457;ORPHA:2250	52	36	0	0	2	16	HP:0000223;HP:0011968
MONDO:0011381	dominant beta-thalassemia	direct	6	OMIM:603902;ORPHA:231226	54	2	0	2	2	52	HP:0001878;HP:0001923	OMIM:603902;ORPHA:231226	54	2	0	2	2	52	HP:0001878;HP:0001923
MONDO:0011397	autosomal dominant cerebellar ataxia, deafness and narcolepsy	direct	20	OMIM:604121;ORPHA:314404	39	14	1	3	2	25	HP:0001250;HP:0033051	OMIM:604121;ORPHA:314404	39	14	1	3	2	25	HP:0001250;HP:0033051
MONDO:0011426	aceruloplasminemia	direct	6	OMIM:604290;ORPHA:48818	46	2	2	0	2	44	HP:0000488;HP:0001695	OMIM:604290;ORPHA:48818	46	2	2	0	2	44	HP:0000488;HP:0001695
MONDO:0011462	pyogenic arthritis-pyoderma gangrenosum-acne syndrome	direct	6	OMIM:604416;ORPHA:69126	30	4	0	0	2	26	HP:0005187;HP:0025532	OMIM:604416;ORPHA:69126	30	4	0	0	2	26	HP:0005187;HP:0025532
MONDO:0011482	dilated cardiomyopathy 1I	direct	3	OMIM:604765	8	1	0	0	2	7	HP:0002460;HP:0031546	OMIM:604765	8	1	0	0	2	7	HP:0002460;HP:0031546
MONDO:0011493	Stickler syndrome type 2	direct	11	OMIM:604841;ORPHA:90654	39	7	2	0	2	32	HP:0000405;HP:0003088	OMIM:604841;ORPHA:90654	39	7	2	0	2	32	HP:0000405;HP:0003088
MONDO:0011518	Wiedemann-Steiner syndrome	direct	22	OMIM:605130;ORPHA:319182	104	12	1	7	2	92	HP:0001156;HP:0034323	OMIM:605130;ORPHA:319182	104	12	1	7	2	92	HP:0001156;HP:0034323
MONDO:0011603	GNE myopathy	direct	13	OMIM:605820;ORPHA:602	35	8	3	0	2	27	HP:0001873;HP:0002870	OMIM:605820;ORPHA:602	35	8	3	0	2	27	HP:0001873;HP:0002870
MONDO:0011674	Charcot-Marie-Tooth disease dominant intermediate B	direct	6	OMIM:606482	14	4	0	0	2	10	HP:0000518;HP:0001875	OMIM:606482	14	4	0	0	2	10	HP:0000518;HP:0001875
MONDO:0011705	lymphangioleiomyomatosis	direct	8	OMIM:606690	2	0	0	0	8	2	HP:0002105;HP:0002107;HP:0002875;HP:0002878;HP:0006772;HP:0010310;HP:0012735;HP:0032445	OMIM:606690;ORPHA:538	37	5	1	0	2	32	HP:0002878;HP:0032445
MONDO:0011719	gastrointestinal stromal tumor	direct	5	OMIM:606764;ORPHA:44890	24	3	0	0	2	21	HP:0001824;HP:0031500	OMIM:606764;ORPHA:44890	24	3	0	0	2	21	HP:0001824;HP:0031500
MONDO:0011731	glucose-galactose malabsorption	direct	7	OMIM:606824;ORPHA:35710	23	4	1	0	2	19	HP:6000259;HP:6001295	OMIM:606824;ORPHA:35710	23	4	1	0	2	19	HP:6000259;HP:6001295
MONDO:0011732	familial digital arthropathy-brachydactyly	direct	10	OMIM:606835;ORPHA:85169	14	7	1	0	2	7	HP:0002829;HP:0003088	OMIM:606835;ORPHA:85169	14	7	1	0	2	7	HP:0002829;HP:0003088
MONDO:0011776	CINCA syndrome	direct	22	OMIM:607115;ORPHA:1451	58	18	2	0	2	40	HP:0000556;HP:0002119	OMIM:607115;ORPHA:1451	58	18	2	0	2	40	HP:0000556;HP:0002119
MONDO:0011816	lathosterolosis	direct	19	OMIM:607330;ORPHA:46059	70	14	0	3	2	56	HP:0001249;HP:0001394	OMIM:607330;ORPHA:46059	70	14	0	3	2	56	HP:0001249;HP:0001394
MONDO:0012062	dilated cardiomyopathy 1O	direct	5	OMIM:608569	6	3	0	0	2	3	HP:0012664;HP:4000141	OMIM:608569	6	3	0	0	2	3	HP:0012664;HP:4000141
MONDO:0012116	spinocerebellar ataxia type 8	direct	10	OMIM:608768;ORPHA:98760	34	7	0	1	2	27	HP:0002168;HP:0100543	OMIM:608768;ORPHA:98760	34	7	0	1	2	27	HP:0002168;HP:0100543
MONDO:0012273	autosomal recessive nonsyndromic hearing loss 48	direct	4	OMIM:609439	3	1	0	1	2	2	HP:0000399;HP:0008619	OMIM:609439	3	1	0	1	2	2	HP:0000399;HP:0008619
MONDO:0012426	immunodeficiency 25	direct	6	OMIM:610163	19	1	1	2	2	18	HP:0025808;HP:0031382	OMIM:610163	19	1	1	2	2	18	HP:0025808;HP:0031382
MONDO:0012634	craniofacial dysplasia - osteopenia syndrome	direct	10	OMIM:611174	55	8	0	0	2	47	HP:0000703;HP:0007018	OMIM:611174	55	8	0	0	2	47	HP:0000703;HP:0007018
MONDO:0012635	COG8-congenital disorder of glycosylation	direct	13	OMIM:611182;ORPHA:95428	76	11	0	0	2	65	HP:0001999;HP:0002804	OMIM:611182;ORPHA:95428	76	11	0	0	2	65	HP:0001999;HP:0002804
MONDO:0012693	glycogen storage disease due to muscle and heart glycogen synthase deficiency	direct	8	OMIM:611556;ORPHA:137625	41	5	1	0	2	36	HP:0009020;HP:0500018	OMIM:611556;ORPHA:137625	41	5	1	0	2	36	HP:0009020;HP:0500018
MONDO:0012704	dilated cardiomyopathy 1X	direct	4	OMIM:611615	12	2	0	0	2	10	HP:0001635;HP:0003749	OMIM:611615	12	2	0	0	2	10	HP:0001635;HP:0003749
MONDO:0012719	combined PSAP deficiency	direct	4	OMIM:611721;ORPHA:139406	24	1	1	0	2	23	HP:0001873;HP:0002180	OMIM:611721;ORPHA:139406	24	1	1	0	2	23	HP:0001873;HP:0002180
MONDO:0012720	Krabbe disease due to saposin A deficiency	direct	5	OMIM:611722	19	1	0	2	2	18	HP:0002415;HP:0002448	OMIM:611722	19	1	0	2	2	18	HP:0002415;HP:0002448
MONDO:0012744	dilated cardiomyopathy 1Y	direct	4	OMIM:611878	16	2	0	0	2	14	HP:0012664;HP:0030682	OMIM:611878	16	2	0	0	2	14	HP:0012664;HP:0030682
MONDO:0012833	Crouzon syndrome-acanthosis nigricans syndrome	direct	10	OMIM:612247;ORPHA:93262	32	8	0	0	2	24	HP:0000303;HP:0003416	OMIM:612247;ORPHA:93262	32	8	0	0	2	24	HP:0000303;HP:0003416
MONDO:0012864	chromosome 2q32-q33 deletion syndrome	direct	24	OMIM:612313;ORPHA:251019;ORPHA:576283	108	19	3	0	2	89	HP:0001627;HP:0002659	OMIM:612313;ORPHA:251019;ORPHA:576283	108	19	3	0	2	89	HP:0001627;HP:0002659
MONDO:0012930	autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	direct	10	OMIM:612541	53	5	0	3	2	48	HP:0001249;HP:0100280	OMIM:612541	53	5	0	3	2	48	HP:0001249;HP:0100280
MONDO:0013069	autosomal recessive optic atrophy, OPA7 type	direct	7	OMIM:612989	14	4	0	1	2	10	HP:0003477;HP:0006958	OMIM:612989	14	4	0	1	2	10	HP:0003477;HP:0006958
MONDO:0013150	parkinsonism-dystonia, infantile	direct	12	ORPHA:238455	20	7	1	2	2	13	HP:0001337;HP:0002194	OMIM:613135;OMIM:618049;OMIM:619738;ORPHA:238455;ORPHA:352649	85	11	0	1	0	74	
MONDO:0013187	factor XIII, A subunit, deficiency of	direct	9	OMIM:613225	15	4	3	0	2	11	HP:0001058;HP:0012233	OMIM:613225	15	4	3	0	2	11	HP:0001058;HP:0012233
MONDO:0013224	rhabdoid tumor predisposition syndrome 2	direct	4	OMIM:613325	4	2	0	0	2	2	HP:0003072;HP:0100615	OMIM:613325	4	2	0	0	2	2	HP:0003072;HP:0100615
MONDO:0013261	dilated cardiomyopathy 1R	direct	4	OMIM:613424	15	2	0	0	2	13	HP:0001699;HP:0012664	OMIM:613424	15	2	0	0	2	13	HP:0001699;HP:0012664
MONDO:0013308	CBL-related disorder	direct	9	OMIM:613563	50	5	0	2	2	45	HP:0001328;HP:0002633	OMIM:613563	50	5	0	2	2	45	HP:0001328;HP:0002633
MONDO:0013339	dilated cardiomyopathy 1GG	direct	6	OMIM:613642	10	4	0	0	2	6	HP:0001712;HP:0002151	OMIM:613642	10	4	0	0	2	6	HP:0001712;HP:0002151
MONDO:0013349	ALG11-congenital disorder of glycosylation	direct	16	OMIM:613661;ORPHA:280071	52	12	2	0	2	40	HP:0001272;HP:0006808	OMIM:613661;ORPHA:280071	52	12	2	0	2	40	HP:0001272;HP:0006808
MONDO:0013353	intellectual disability, anterior maxillary protrusion, and strabismus	direct	8	OMIM:613671	17	6	0	0	2	11	HP:0000407;HP:0007359	OMIM:613671	17	6	0	0	2	11	HP:0000407;HP:0007359
MONDO:0013426	aneurysm-osteoarthritis syndrome	direct	21	OMIM:613795;ORPHA:284984	85	16	2	1	2	69	HP:0000963;HP:4000067	OMIM:613795;ORPHA:284984	85	16	2	1	2	69	HP:0000963;HP:4000067
MONDO:0013438	pontocerebellar hypoplasia type 2D	direct	6	OMIM:613811	20	2	0	2	2	18	HP:0001252;HP:0001321	OMIM:613811	20	2	0	2	2	18	HP:0001252;HP:0001321
MONDO:0013452	multisystemic smooth muscle dysfunction syndrome	direct	8	OMIM:613834	22	3	1	1	3	19	HP:0001250;HP:0002140;HP:0002647	OMIM:611788;OMIM:613834;OMIM:614042	30	3	1	2	2	27	HP:0001250;HP:0002140
MONDO:0013474	hypertrophic cardiomyopathy 17	direct	5	OMIM:613873	10	2	0	1	2	8	HP:0001635;HP:0001678	OMIM:613873	10	2	0	1	2	8	HP:0001635;HP:0001678
MONDO:0013477	hypertrophic cardiomyopathy 20	direct	4	OMIM:613876	7	2	0	0	2	5	HP:0001685;HP:0031333	OMIM:613876	7	2	0	0	2	5	HP:0001685;HP:0031333
MONDO:0013578	DYRK1A-related intellectual disability syndrome	direct	22	OMIM:614104;ORPHA:464306	109	15	0	5	2	94	HP:0000609;HP:0002019	OMIM:614104;ORPHA:268261;ORPHA:464306;ORPHA:464311	171	20	2	0	0	151	
MONDO:0013626	psoriasis 14, pustular	direct	6	OMIM:614204	21	4	0	0	2	17	HP:0033605;HP:0040189	OMIM:614204	21	4	0	0	2	17	HP:0033605;HP:0040189
MONDO:0013681	alpha-methylacyl-CoA racemase deficiency	direct	13	OMIM:614307	26	3	4	1	5	23	HP:0002910;HP:0003076;HP:0003256;HP:0010663;HP:0100543	OMIM:214950;OMIM:614307;ORPHA:79095	59	5	3	3	2	54	HP:0003076;HP:0010663
MONDO:0013758	Charcot-Marie-Tooth disease dominant intermediate E	direct	10	OMIM:614455	23	7	0	1	2	16	HP:0002751;HP:0003431	OMIM:614455	23	7	0	1	2	16	HP:0002751;HP:0003431
MONDO:0013762	lipoic acid synthetase deficiency	direct	10	OMIM:614462	25	5	3	0	2	20	HP:0001508;HP:0002154	OMIM:614462	25	5	3	0	2	20	HP:0001508;HP:0002154
MONDO:0013823	autosomal dominant nonsyndromic hearing loss 4B	direct	5	OMIM:614614	5	0	3	0	2	5	HP:0000360;HP:0001730	OMIM:614614	5	0	3	0	2	5	HP:0000360;HP:0001730
MONDO:0013852	hypertrophic cardiomyopathy 21	direct	4	OMIM:614676	8	1	1	0	2	7	HP:0001635;HP:0001644	OMIM:614676	8	1	1	0	2	7	HP:0001635;HP:0001644
MONDO:0013875	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	direct	20	OMIM:614739;ORPHA:352328	43	15	1	2	2	28	HP:0000729;HP:0001999	OMIM:614739;ORPHA:352328	43	15	1	2	2	28	HP:0000729;HP:0001999
MONDO:0013929	autosomal recessive nonsyndromic hearing loss 98	direct	3	OMIM:614861	3	0	1	0	2	3	HP:0006958;HP:0010296	OMIM:614861	3	0	1	0	2	3	HP:0006958;HP:0010296
MONDO:0014017	intellectual developmental disorder with autism and macrocephaly	direct	29	OMIM:615032	82	24	0	3	2	58	HP:0005280;HP:0007099	OMIM:615032	82	24	0	3	2	58	HP:0005280;HP:0007099
MONDO:0014054	lymphoproliferative syndrome 2	direct	10	OMIM:615122	24	7	1	0	2	17	HP:0001369;HP:0005387	OMIM:615122	24	7	1	0	2	17	HP:0001369;HP:0005387
MONDO:0014058	facial dysmorphism-immunodeficiency-livedo-short stature syndrome	direct	10	OMIM:615139	15	5	1	2	2	10	HP:0005791;HP:0008244	OMIM:615139	15	5	1	2	2	10	HP:0005791;HP:0008244
MONDO:0014095	dilated cardiomyopathy 1JJ	direct	4	OMIM:615235	6	2	0	0	2	4	HP:0001635;HP:0031546	OMIM:615235	6	2	0	0	2	4	HP:0001635;HP:0031546
MONDO:0014213	CTCF-related neurodevelopmental disorder	direct	22	OMIM:615502;ORPHA:363611	153	13	1	6	2	140	HP:0002015;HP:0002667	OMIM:615502;ORPHA:363611	153	13	1	6	2	140	HP:0002015;HP:0002667
MONDO:0014258	congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome	direct	12	OMIM:615574	64	8	2	0	2	56	HP:0001336;HP:0002059	OMIM:615574	64	8	2	0	2	56	HP:0001336;HP:0002059
MONDO:0014321	premature ovarian failure 8	direct	4	OMIM:615723	9	2	0	0	2	7	HP:0000027;HP:0003251	OMIM:615723	9	2	0	0	2	7	HP:0000027;HP:0003251
MONDO:0014322	premature ovarian failure 9	direct	3	OMIM:615724	7	1	0	0	2	6	HP:0003251;HP:0011961	OMIM:615724	7	1	0	0	2	6	HP:0003251;HP:0011961
MONDO:0014370	pontocerebellar hypoplasia type 2E	direct	7	OMIM:615851	39	4	0	1	2	35	HP:0000365;HP:0001392	OMIM:615851	39	4	0	1	2	35	HP:0000365;HP:0001392
MONDO:0014392	developmental and epileptic encephalopathy, 25	direct	11	OMIM:615905	21	7	0	2	2	14	HP:0001249;HP:0032807	OMIM:615905	21	7	0	2	2	14	HP:0001249;HP:0032807
MONDO:0014399	ataxia-telangiectasia-like disorder 2	direct	17	OMIM:615919;ORPHA:438134	31	11	1	3	2	20	HP:0011390;HP:0100543	OMIM:615919;ORPHA:438134	31	11	1	3	2	20	HP:0011390;HP:0100543
MONDO:0014405	STING-associated vasculopathy with onset in infancy	direct	6	OMIM:615934	41	3	0	1	2	38	HP:0005764;HP:0200029	OMIM:615934	41	3	0	1	2	38	HP:0005764;HP:0200029
MONDO:0014477	developmental and epileptic encephalopathy, 26	direct	8	OMIM:616056	16	3	0	3	2	13	HP:0000729;HP:0001249	OMIM:616056	16	3	0	3	2	13	HP:0000729;HP:0001249
MONDO:0014482	intellectual disability, autosomal dominant 29	direct	11	OMIM:616078	59	5	1	3	2	54	HP:0001260;HP:0011098	OMIM:616078	59	5	1	3	2	54	HP:0001260;HP:0011098
MONDO:0014518	platelet-type bleeding disorder 19	direct	4	OMIM:616176	9	2	0	0	2	7	HP:0001902;HP:0011869	OMIM:616176	9	2	0	0	2	7	HP:0001902;HP:0011869
MONDO:0014521	progressive myoclonic epilepsy type 7	direct	8	OMIM:616187	12	3	3	0	2	9	HP:0002505;HP:0010852	OMIM:616187	12	3	3	0	2	9	HP:0002505;HP:0010852
MONDO:0014525	combined oxidative phosphorylation defect type 23	direct	14	OMIM:616198;ORPHA:444013	40	9	3	0	2	31	HP:0000486;HP:0003546	OMIM:616198;ORPHA:444013	40	9	3	0	2	31	HP:0000486;HP:0003546
MONDO:0014562	neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	direct	23	OMIM:616276	65	13	4	4	2	52	HP:0000252;HP:0003128	OMIM:616276	65	13	4	4	2	52	HP:0000252;HP:0003128
MONDO:0014576	lipoyl transferase 1 deficiency	direct	5	OMIM:616299	26	1	1	1	2	25	HP:0001250;HP:0001924	OMIM:616299	26	1	1	1	2	25	HP:0001250;HP:0001924
MONDO:0014601	autosomal recessive spinocerebellar ataxia 20	direct	16	OMIM:616354;ORPHA:397709	77	13	0	1	2	64	HP:0000733;HP:0001332	OMIM:616354;ORPHA:397709	77	13	0	1	2	64	HP:0000733;HP:0001332
MONDO:0014607	developmental and epileptic encephalopathy, 32	direct	8	OMIM:616366	15	4	1	1	2	11	HP:0000253;HP:0001272	OMIM:616366	15	4	1	1	2	11	HP:0000253;HP:0001272
MONDO:0014658	severe achondroplasia-developmental delay-acanthosis nigricans syndrome	direct	10	OMIM:616482;ORPHA:85165	58	8	0	0	2	50	HP:0002119;HP:0002324	OMIM:616482;ORPHA:85165	58	8	0	0	2	50	HP:0002119;HP:0002324
MONDO:0014675	autosomal recessive nonsyndromic hearing loss 104	direct	4	OMIM:616515	8	1	1	0	2	7	HP:0008619;HP:0011476	OMIM:616515	8	1	1	0	2	7	HP:0008619;HP:0011476
MONDO:0014711	autosomal dominant Charcot-Marie-Tooth disease type 2W	direct	8	OMIM:616625;ORPHA:488333	27	4	2	0	2	23	HP:0001272;HP:0100543	OMIM:616625;ORPHA:488333	27	4	2	0	2	23	HP:0001272;HP:0100543
MONDO:0014720	autosomal dominant optic atrophy plus syndrome	direct	9	ORPHA:1215	26	7	0	0	2	19	HP:0000576;HP:0007641	OMIM:125250;OMIM:165199;OMIM:601338;OMIM:616648;ORPHA:1171;ORPHA:1215	85	9	0	0	0	76	
MONDO:0014791	Luscan-Lumish syndrome	direct	11	OMIM:616831	34	8	0	1	2	26	HP:0001270;HP:0005616	OMIM:616831	34	8	0	1	2	26	HP:0001270;HP:0005616
MONDO:0014848	TELO2-related intellectual disability-neurodevelopmental disorder	direct	16	OMIM:616954;ORPHA:488642	68	10	0	4	2	58	HP:0001627;HP:0008897	OMIM:616954;ORPHA:488642	68	10	0	4	2	58	HP:0001627;HP:0008897
MONDO:0014857	neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	direct	30	OMIM:616975;ORPHA:494344	109	25	3	0	2	84	HP:0000175;HP:0007099	OMIM:616975;ORPHA:494344	109	25	3	0	2	84	HP:0000175;HP:0007099
MONDO:0014881	transketolase deficiency	direct	6	OMIM:617044;ORPHA:488618	32	3	0	1	2	29	HP:0002028;HP:0012072	OMIM:617044;ORPHA:488618	32	3	0	1	2	29	HP:0002028;HP:0012072
MONDO:0014893	Okur-Chung neurodevelopmental syndrome	direct	12	OMIM:617062	48	8	0	2	2	40	HP:0002015;HP:0004322	OMIM:617062	48	8	0	2	2	40	HP:0002015;HP:0004322
MONDO:0014895	developmental and epileptic encephalopathy, 40	direct	5	OMIM:617065	22	1	1	1	2	21	HP:0002376;HP:0020174	OMIM:617065	22	1	1	1	2	21	HP:0002376;HP:0020174
MONDO:0014946	Sifrim-Hitz-Weiss syndrome	direct	15	OMIM:617159	40	6	0	7	2	34	HP:0000750;HP:0010646	OMIM:617159	40	6	0	7	2	34	HP:0000750;HP:0010646
MONDO:0014949	developmental and epileptic encephalopathy, 47	direct	5	OMIM:617166	29	1	0	2	2	28	HP:0001263;HP:0011675	OMIM:617166	29	1	0	2	2	28	HP:0001263;HP:0011675
MONDO:0015096	familial hypofibrinogenemia	direct	5	ORPHA:101041	4	1	2	0	2	3	HP:0001197;HP:0011900	ORPHA:101041	4	1	2	0	2	3	HP:0001197;HP:0011900
MONDO:0015140	early-onset autosomal dominant Alzheimer disease	direct	12	ORPHA:1020	26	7	1	2	2	19	HP:0007256;HP:0011970	OMIM:104300;OMIM:602096;OMIM:605055;OMIM:606889;OMIM:607822;OMIM:609636;ORPHA:1020	58	9	2	1	0	49	
MONDO:0015167	amniotic band syndrome	direct	29	OMIM:217100;ORPHA:295000	37	27	0	0	2	10	HP:6000818;HP:6001389	OMIM:217100;ORPHA:295000	37	27	0	0	2	10	HP:6000818;HP:6001389
MONDO:0015177	metaphyseal anadysplasia	direct	5	ORPHA:1040	9	1	2	0	2	8	HP:0000920;HP:0002650	OMIM:613073;ORPHA:1040	17	3	0	0	2	14	HP:0000920;HP:0002650
MONDO:0015267	Feingold syndrome	direct	12	ORPHA:1305	21	5	1	0	6	16	HP:0000824;HP:0001263;HP:0001627;HP:0004942;HP:0009601;HP:0045025	OMIM:164280;OMIM:614326;ORPHA:1305;ORPHA:391641;ORPHA:391646	82	8	2	0	2	74	HP:0000824;HP:0004942
MONDO:0015279	chronic mucocutaneous candidiasis	direct	17	ORPHA:1334	31	0	13	0	4	31	HP:0000821;HP:0002015;HP:0002043;HP:0004944	OMIM:114580;OMIM:247430;OMIM:247450;OMIM:247650;OMIM:252250;OMIM:607644;OMIM:613108;OMIM:613953;OMIM:613956;OMIM:614162;OMIM:615527;OMIM:616445;ORPHA:1334;ORPHA:391487	128	9	6	0	2	119	HP:0002015;HP:0002043
MONDO:0015307	Madras motor neuron disease	direct	7	ORPHA:137867	17	4	0	1	2	13	HP:0001308;HP:0002366	ORPHA:137867	17	4	0	1	2	13	HP:0001308;HP:0002366
MONDO:0015346	epilepsy with eyelid myoclonia	direct	5	ORPHA:139431	23	2	1	0	2	21	HP:0000572;HP:0100543	ORPHA:139431	23	2	1	0	2	21	HP:0000572;HP:0100543
MONDO:0015397	craniofacial microsomia	direct	20	ORPHA:141132	29	8	2	4	6	21	HP:0000154;HP:0000202;HP:0002984;HP:0010628;HP:0011799;HP:0040064	OMIM:164210;OMIM:620444;ORPHA:141132	79	11	1	6	2	68	HP:0002984;HP:0010628
MONDO:0015465	craniometaphyseal dysplasia	direct	21	ORPHA:1522	13	6	3	2	10	7	HP:0000303;HP:0000684;HP:0002315;HP:0002516;HP:0002677;HP:0002781;HP:0004975;HP:0007099;HP:0011968;HP:0012812	OMIM:122860;OMIM:123000;OMIM:218400;ORPHA:1513;ORPHA:1522	96	14	2	3	2	82	HP:0002781;HP:0007099
MONDO:0015515	carnitine palmitoyltransferase II deficiency	direct	14	ORPHA:157	42	10	0	2	2	32	HP:0001919;HP:0008967	OMIM:255110;OMIM:600649;OMIM:608836;ORPHA:157;ORPHA:228302;ORPHA:228305;ORPHA:228308	123	10	2	2	0	113	
MONDO:0015536	papular xanthoma	direct	2	ORPHA:158008	3	0	0	0	2	3	HP:0025507;HP:0200034	ORPHA:158008	3	0	0	0	2	3	HP:0025507;HP:0200034
MONDO:0015696	Good syndrome	direct	6	ORPHA:169105	20	2	1	1	2	18	HP:0002960;HP:0012410	ORPHA:169105	20	2	1	1	2	18	HP:0002960;HP:0012410
MONDO:0016217	mal de Debarquement	direct	9	ORPHA:210272	15	4	1	2	2	11	HP:0000716;HP:4000033	ORPHA:210272	15	4	1	2	2	11	HP:0000716;HP:4000033
MONDO:0016367	dermatomyositis	direct	47	ORPHA:221	76	43	0	1	3	33	HP:0000958;HP:0002205;HP:0003281	ORPHA:221;ORPHA:93672	96	44	0	1	2	52	HP:0002205;HP:0003281
MONDO:0016575	primary ciliary dyskinesia	direct	30	ORPHA:244	47	25	2	1	2	22	HP:0030853;HP:0034315	OMIM:215518;OMIM:215520;OMIM:242670;OMIM:243605;OMIM:244400;OMIM:300991;OMIM:606763;OMIM:608644;OMIM:608647;OMIM:610852;OMIM:611884;OMIM:612444;OMIM:612518;OMIM:612649;OMIM:612650;OMIM:613193;OMIM:613807;OMIM:613808;OMIM:614017;OMIM:614679;OMIM:614874;OMIM:614935;OMIM:615067;OMIM:615294;OMIM:615444;OMIM:615451;OMIM:615481;OMIM:615482;OMIM:615500;OMIM:615504;OMIM:615505;OMIM:615872;OMIM:616037;OMIM:616481;OMIM:616726;OMIM:617091;OMIM:617092;OMIM:617577;OMIM:618063;OMIM:618254;OMIM:618300;OMIM:618449;OMIM:618695;OMIM:618699;OMIM:618781;OMIM:618801;OMIM:619436;OMIM:619466;OMIM:620032;OMIM:620197;OMIM:620356;OMIM:620438;OMIM:620570;OMIM:620642;OMIM:621125;ORPHA:244	193	30	0	0	0	163	
MONDO:0016620	primary hypertrophic osteoarthropathy	direct	12	ORPHA:2796	49	10	0	0	2	39	HP:0000270;HP:0001643	OMIM:167100;OMIM:259100;OMIM:614441;ORPHA:1525;ORPHA:2796	83	11	1	0	0	72	
MONDO:0016674	46,XY partial gonadal dysgenesis	direct	20	ORPHA:251510	43	13	4	0	3	30	HP:0001007;HP:0009830;HP:0031103	OMIM:154230;OMIM:300018;OMIM:612965;OMIM:613762;OMIM:615542;OMIM:616067;OMIM:616425;ORPHA:251510	88	16	2	0	2	72	HP:0009830;HP:0031103
MONDO:0016722	pineoblastoma	direct	3	ORPHA:251909	19	1	0	0	2	18	HP:0000238;HP:0001251	ORPHA:251909	19	1	0	0	2	18	HP:0000238;HP:0001251
MONDO:0016823	mycetoma	direct	8	ORPHA:2583	29	1	2	3	2	28	HP:0000975;HP:6001164	ORPHA:2583	29	1	2	3	2	28	HP:0000975;HP:6001164
MONDO:0017048	pseudomyxoma peritonei	direct	4	ORPHA:26790	12	2	0	0	2	10	HP:0003270;HP:0100615	ORPHA:26790	12	2	0	0	2	10	HP:0003270;HP:0100615
MONDO:0017400	hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome	direct	15	OMIM:615710	20	12	1	0	2	8	HP:0001508;HP:0001903	OMIM:615710	20	12	1	0	2	8	HP:0001508;HP:0001903
MONDO:0017416	postpoliomyelitis syndrome	direct	8	ORPHA:2942	17	5	1	0	2	12	HP:0002366;HP:6000855	ORPHA:2942	17	5	1	0	2	12	HP:0002366;HP:6000855
MONDO:0017574	chronic intestinal pseudoobstruction	direct	6	ORPHA:2978	6	0	1	0	5	6	HP:0001508;HP:0002013;HP:0002019;HP:0003270;HP:0011968	OMIM:243180;OMIM:300048;OMIM:601223;ORPHA:2978;ORPHA:99811	49	3	0	1	2	46	HP:0001508;HP:0002019
MONDO:0017579	Baraitser-Winter cerebrofrontofacial syndrome	direct	16	ORPHA:2995	61	10	2	0	4	51	HP:0000407;HP:0001627;HP:0003724;HP:0011024	OMIM:243310;OMIM:614583;ORPHA:2995	90	12	2	0	2	78	HP:0003724;HP:0011024
MONDO:0017775	melioidosis	direct	12	ORPHA:31202	23	9	0	1	2	14	HP:0002383;HP:0200042	ORPHA:31202	23	9	0	1	2	14	HP:0002383;HP:0200042
MONDO:0017838	sclerosteosis	direct	10	ORPHA:3152	14	3	2	3	2	11	HP:0000303;HP:0002516	OMIM:269500;OMIM:614305;ORPHA:3152	64	8	1	1	0	56	
MONDO:0017990	catecholaminergic polymorphic ventricular tachycardia	direct	9	ORPHA:3286	10	6	1	0	2	4	HP:0001250;HP:0001662	OMIM:604772;OMIM:611938;OMIM:614021;OMIM:614916;OMIM:615441;OMIM:618782;ORPHA:3286	39	9	0	0	0	30	
MONDO:0018048	heparin-induced thrombocytopenia	direct	7	ORPHA:3325	15	3	1	1	2	12	HP:0033126;HP:0100758	ORPHA:3325	15	3	1	1	2	12	HP:0033126;HP:0100758
MONDO:0018092	Vogt-Koyanagi-Harada disease	direct	12	ORPHA:3437	37	8	2	0	2	29	HP:0007894;HP:0033430	ORPHA:3437	37	8	2	0	2	29	HP:0007894;HP:0033430
MONDO:0018094	Waardenburg syndrome	direct	13	ORPHA:3440	32	5	5	0	3	27	HP:0000256;HP:0002817;HP:0011002	OMIM:148820;OMIM:193500;OMIM:193510;OMIM:277580;OMIM:600193;OMIM:611584;OMIM:613265;OMIM:613266;OMIM:619947;ORPHA:3440;ORPHA:894;ORPHA:895;ORPHA:896;ORPHA:897	128	8	3	0	2	120	HP:0000256;HP:0011002
MONDO:0018544	adrenoleukodystrophy	direct	15	OMIM:300100;ORPHA:43	61	8	1	1	5	53	HP:0001824;HP:0002039;HP:0002196;HP:0002352;HP:0007305	OMIM:300100;ORPHA:139396;ORPHA:139399;ORPHA:43	133	11	1	1	2	122	HP:0001824;HP:0002039
MONDO:0018768	familial cold autoinflammatory syndrome	direct	8	ORPHA:47045	17	5	1	0	2	12	HP:0001917;HP:0011227	OMIM:120100;OMIM:611762;OMIM:614468;OMIM:616115;ORPHA:47045	51	8	0	0	0	43	
MONDO:0018770	Jeune syndrome	direct	17	ORPHA:474	24	11	2	2	2	13	HP:0000107;HP:0000556	OMIM:208500;OMIM:225500;OMIM:263520;OMIM:266920;OMIM:269860;OMIM:611263;OMIM:613091;OMIM:613819;OMIM:614091;OMIM:614376;OMIM:615503;OMIM:615630;OMIM:615633;OMIM:616300;OMIM:616546;OMIM:617088;OMIM:617102;OMIM:617405;OMIM:617866;OMIM:617895;OMIM:617925;OMIM:619479;OMIM:621260;ORPHA:289;ORPHA:474;ORPHA:93271	405	17	0	0	0	388	
MONDO:0018906	follicular lymphoma	direct	8	ORPHA:545	17	4	2	0	2	13	HP:0001903;HP:0005561	ORPHA:545	17	4	2	0	2	13	HP:0001903;HP:0005561
MONDO:0018921	Meckel syndrome	direct	5	ORPHA:564	45	1	1	1	2	44	HP:0000800;HP:0002089	OMIM:249000;OMIM:267010;OMIM:603194;OMIM:607361;OMIM:611134;OMIM:611561;OMIM:612284;OMIM:613885;OMIM:614175;OMIM:614209;OMIM:615397;OMIM:616258;OMIM:617562;OMIM:619879;ORPHA:3032;ORPHA:564	199	5	0	0	0	194	
MONDO:0018938	mucopolysaccharidosis type 4	direct	11	ORPHA:582	34	6	0	1	4	28	HP:0000943;HP:0002176;HP:0002781;HP:0003311	OMIM:253000;OMIM:253010;ORPHA:582	79	8	0	1	2	71	HP:0002176;HP:0002781
MONDO:0018965	Alport syndrome	direct	11	ORPHA:63	34	8	0	1	2	26	HP:0007957;HP:0011507	OMIM:104200;OMIM:203780;OMIM:301050;OMIM:620536;ORPHA:63;ORPHA:88917;ORPHA:88918;ORPHA:88919	68	9	0	0	2	59	HP:0007957;HP:0011507
MONDO:0019105	renal nutcracker syndrome	direct	7	ORPHA:71273	25	5	0	0	2	20	HP:0012622;HP:0034239	ORPHA:71273	25	5	0	0	2	20	HP:0012622;HP:0034239
MONDO:0019137	non-24-hour sleep-wake syndrome	direct	3	ORPHA:73267	5	1	0	0	2	4	HP:0006979;HP:0031354	ORPHA:73267	5	1	0	0	2	4	HP:0006979;HP:0031354
MONDO:0019180	hereditary hemorrhagic telangiectasia	direct	16	ORPHA:774	36	10	2	0	4	26	HP:0002094;HP:0012378;HP:0030049;HP:0030991	OMIM:187300;OMIM:600376;OMIM:610655;OMIM:615506;ORPHA:774	74	12	2	0	2	62	HP:0012378;HP:0030991
MONDO:0019312	Hermansky-Pudlak syndrome	direct	11	ORPHA:79430	39	7	2	0	2	32	HP:0002583;HP:0007750	OMIM:203300;OMIM:608233;OMIM:614072;OMIM:614073;OMIM:614074;OMIM:614075;OMIM:614076;OMIM:614077;OMIM:614171;OMIM:617050;OMIM:619172;ORPHA:79430	156	10	1	0	0	146	
MONDO:0019323	pemphigus erythematosus	direct	3	ORPHA:79480	14	1	0	0	2	13	HP:0000992;HP:0010783	ORPHA:79480	14	1	0	0	2	13	HP:0000992;HP:0010783
MONDO:0019338	sarcoidosis	direct	40	ORPHA:797	77	30	6	0	4	47	HP:0001635;HP:0001744;HP:0002829;HP:0030166	OMIM:186580;ORPHA:797;ORPHA:90340	122	32	6	0	2	90	HP:0001635;HP:0030166
MONDO:0019342	Seckel syndrome	direct	9	ORPHA:808	26	5	0	0	4	21	HP:0000448;HP:0000518;HP:0001344;HP:0002140	OMIM:210600;OMIM:600546;OMIM:606744;OMIM:613676;OMIM:613823;OMIM:614728;OMIM:614851;OMIM:615807;OMIM:616051;OMIM:616777;OMIM:617253;OMIM:620767;ORPHA:319675;ORPHA:808	187	6	1	0	2	181	HP:0000518;HP:0002140
MONDO:0019353	Stargardt disease	direct	15	ORPHA:827	16	7	2	0	6	9	HP:0000512;HP:0000613;HP:0007754;HP:0012045;HP:0030602;HP:0030610	OMIM:248200;OMIM:600110;OMIM:603786;OMIM:621259;ORPHA:364055;ORPHA:827	63	13	0	0	2	50	HP:0030602;HP:0030610
MONDO:0019373	desmoplastic small round cell tumor	direct	5	ORPHA:83469	18	2	0	1	2	16	HP:0001945;HP:0031500	ORPHA:83469	18	2	0	1	2	16	HP:0001945;HP:0031500
MONDO:0019475	subcutaneous panniculitis-like T-cell lymphoma	direct	6	OMIM:618398;ORPHA:86884	26	4	0	0	2	22	HP:0001482;HP:0001873	OMIM:618398;ORPHA:86884	26	4	0	0	2	22	HP:0001482;HP:0001873
MONDO:0019497	nonsyndromic genetic hearing loss	direct	4	ORPHA:87884	13	0	0	2	2	13	HP:0001639;HP:0001712	OMIM:124900;OMIM:220290;OMIM:300030;OMIM:300066;OMIM:300614;OMIM:300914;OMIM:304400;OMIM:304500;OMIM:400043;OMIM:400047;OMIM:580000;OMIM:600060;OMIM:600101;OMIM:600316;OMIM:600652;OMIM:600791;OMIM:600792;OMIM:600965;OMIM:600971;OMIM:600974;OMIM:600994;OMIM:601071;OMIM:601072;OMIM:601316;OMIM:601317;OMIM:601369;OMIM:601386;OMIM:601412;OMIM:601543;OMIM:601544;OMIM:601868;OMIM:601869;OMIM:602092;OMIM:602459;OMIM:603010;OMIM:603098;OMIM:603622;OMIM:603629;OMIM:603678;OMIM:603720;OMIM:603964;OMIM:604060;OMIM:604717;OMIM:605192;OMIM:605428;OMIM:605583;OMIM:605818;OMIM:606012;OMIM:606282;OMIM:606346;OMIM:606451;OMIM:606705;OMIM:607017;OMIM:607039;OMIM:607084;OMIM:607101;OMIM:607239;OMIM:607453;OMIM:607821;OMIM:607841;OMIM:608219;OMIM:608224;OMIM:608264;OMIM:608265;OMIM:608372;OMIM:608394;OMIM:608565;OMIM:608641;OMIM:608645;OMIM:608652;OMIM:608653;OMIM:609006;OMIM:609129;OMIM:609439;OMIM:609533;OMIM:609646;OMIM:609647;OMIM:609706;OMIM:609823;OMIM:609941;OMIM:609946;OMIM:609952;OMIM:609965;OMIM:610143;OMIM:610153;OMIM:610154;OMIM:610212;OMIM:610220;OMIM:610248;OMIM:610265;OMIM:610419;OMIM:611022;OMIM:611451;OMIM:612431;OMIM:612433;OMIM:612642;OMIM:612643;OMIM:612644;OMIM:612645;OMIM:612789;OMIM:613074;OMIM:613079;OMIM:613285;OMIM:613307;OMIM:613391;OMIM:613392;OMIM:613453;OMIM:613558;OMIM:613685;OMIM:613718;OMIM:613865;OMIM:613916;OMIM:614035;OMIM:614152;OMIM:614211;OMIM:614414;OMIM:614614;OMIM:614617;OMIM:614861;OMIM:614899;OMIM:614934;OMIM:614944;OMIM:614945;OMIM:615429;OMIM:615540;OMIM:615629;OMIM:615649;OMIM:615654;OMIM:615837;OMIM:615974;OMIM:616042;OMIM:616044;OMIM:616340;OMIM:616357;OMIM:616515;OMIM:616697;OMIM:616705;OMIM:616707;OMIM:616968;OMIM:616969;OMIM:617605;OMIM:617606;OMIM:617637;OMIM:617639;OMIM:617654;OMIM:617663;OMIM:617772;OMIM:618003;OMIM:618013;OMIM:618094;OMIM:618140;OMIM:618145;OMIM:618257;OMIM:618410;OMIM:618422;OMIM:618434;OMIM:618456;OMIM:618457;OMIM:618481;OMIM:618533;OMIM:618778;OMIM:618787;OMIM:618915;OMIM:619081;OMIM:619086;OMIM:619093;OMIM:619174;OMIM:619274;OMIM:619500;OMIM:619553;OMIM:619615;OMIM:619804;OMIM:619808;OMIM:619810;OMIM:620227;OMIM:620238;OMIM:620280;OMIM:620281;OMIM:620283;OMIM:620284;OMIM:620551;OMIM:620714;OMIM:620722;OMIM:620745;OMIM:620794;OMIM:620877;OMIM:621556;ORPHA:87884	115	2	2	0	0	113	
MONDO:0019499	Turner syndrome	direct	20	ORPHA:881	115	14	2	2	2	101	HP:0000815;HP:0000821	ORPHA:881;ORPHA:99226;ORPHA:99228;ORPHA:99413	115	14	2	2	2	101	HP:0000815;HP:0000821
MONDO:0019740	acquired thrombotic thrombocytopenic purpura	direct	9	ORPHA:93585	41	6	0	1	2	35	HP:0000716;HP:0001298	ORPHA:93585	41	6	0	1	2	35	HP:0000716;HP:0001298
MONDO:0020602	Simpson-Golabi-Behmel syndrome type 1	direct	18	OMIM:312870	100	12	1	3	2	88	HP:0001249;HP:0001998	OMIM:312870	100	12	1	3	2	88	HP:0001249;HP:0001998
MONDO:0021081	anti-NMDA receptor encephalitis	direct	10	ORPHA:217253	53	6	0	2	2	47	HP:0001259;HP:0007110	ORPHA:217253	53	6	0	2	2	47	HP:0001259;HP:0007110
MONDO:0026720	mitochondrial complex I deficiency, nuclear type 12	direct	5	OMIM:301020	29	2	1	0	2	27	HP:0002448;HP:0003128	OMIM:301020	29	2	1	0	2	27	HP:0002448;HP:0003128
MONDO:0029131	peripheral neuropathy, autosomal recessive, with or without impaired intellectual development	direct	11	OMIM:618124	34	8	0	1	2	26	HP:0000508;HP:0002380	OMIM:618124	34	8	0	1	2	26	HP:0000508;HP:0002380
MONDO:0030015	bone marrow failure syndrome 6	direct	5	OMIM:618849	14	3	0	0	2	11	HP:0002863;HP:0004808	OMIM:618849	14	3	0	0	2	11	HP:0002863;HP:0004808
MONDO:0030074	spondylometaphyseal dysplasia with corneal dystrophy	direct	11	OMIM:618961	24	6	2	1	2	18	HP:0002089;HP:0003510	OMIM:618961	24	6	2	1	2	18	HP:0002089;HP:0003510
MONDO:0030397	portal hypertension, noncirrhotic, 2	direct	13	OMIM:619463	19	11	0	0	2	8	HP:0001888;HP:0001890	OMIM:619463	19	11	0	0	2	8	HP:0001888;HP:0001890
MONDO:0030448	immunodeficiency 86	direct	4	OMIM:619549	5	1	0	1	2	4	HP:0002716;HP:0011274	OMIM:619549	5	1	0	1	2	4	HP:0002716;HP:0011274
MONDO:0030902	mitochondrial complex I deficiency, nuclear type 36	direct	13	OMIM:619170	22	10	0	1	2	12	HP:0001305;HP:0001508	OMIM:619170	22	10	0	1	2	12	HP:0001305;HP:0001508
MONDO:0032636	mitochondrial complex I deficiency, nuclear type 33	direct	19	OMIM:618253	43	15	0	2	2	28	HP:0002134;HP:0002352	OMIM:618253	43	15	0	2	2	28	HP:0002134;HP:0002352
MONDO:0032685	infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development	direct	7	OMIM:618339	13	2	1	2	2	11	HP:0000518;HP:0002500	OMIM:618339	13	2	1	2	2	11	HP:0000518;HP:0002500
MONDO:0032745	developmental delay with variable intellectual impairment and behavioral abnormalities	direct	12	OMIM:618430	50	6	2	2	2	44	HP:0001332;HP:0012443	OMIM:618430	50	6	2	2	2	44	HP:0001332;HP:0012443
MONDO:0032787	holoprosencephaly 12 with or without pancreatic agenesis	direct	15	OMIM:618500	39	8	0	5	2	31	HP:0000857;HP:0011968	OMIM:618500	39	8	0	5	2	31	HP:0000857;HP:0011968
MONDO:0032836	Weiss-Kruszka syndrome	direct	17	OMIM:618619;ORPHA:502430	50	13	1	1	2	37	HP:0000414;HP:0001363	OMIM:618619;ORPHA:502430	50	13	1	1	2	37	HP:0000414;HP:0001363
MONDO:0032848	immunodeficiency 65, susceptibility to viral infections	direct	2	OMIM:618648	6	0	0	0	2	6	HP:0002090;HP:0012156	OMIM:618648	6	0	0	0	2	6	HP:0002090;HP:0012156
MONDO:0032882	Heyn-Sproul-Jackson syndrome	direct	5	OMIM:618724	16	2	0	1	2	14	HP:0001363;HP:0001999	OMIM:618724	16	2	0	1	2	14	HP:0001363;HP:0001999
MONDO:0032910	mitochondrial complex I deficiency, nuclear type 34	direct	4	OMIM:618776	14	2	0	0	2	12	HP:0000639;HP:0001251	OMIM:618776	14	2	0	0	2	12	HP:0000639;HP:0001251
MONDO:0032911	hearing loss, autosomal dominant 75	direct	4	OMIM:618778	4	0	2	0	2	4	HP:0006958;HP:6000182	OMIM:618778	4	0	2	0	2	4	HP:0006958;HP:6000182
MONDO:0032917	hearing loss, autosomal dominant 76	direct	3	OMIM:618787	6	0	1	0	2	6	HP:0001730;HP:0005101	OMIM:618787	6	0	1	0	2	6	HP:0001730;HP:0005101
MONDO:0033200	hearing loss, autosomal recessive 108	direct	3	OMIM:617654	5	0	0	1	2	5	HP:0006958;HP:0008554	OMIM:617654	5	0	0	1	2	5	HP:0006958;HP:0008554
MONDO:0033365	developmental and epileptic encephalopathy, 56	direct	12	OMIM:617665	21	7	2	1	2	14	HP:0000750;HP:0001270	OMIM:617665	21	7	2	1	2	14	HP:0000750;HP:0001270
MONDO:0033374	developmental and epileptic encephalopathy, 65	direct	6	OMIM:618008	16	2	1	1	2	14	HP:0001249;HP:0020174	OMIM:618008	16	2	1	1	2	14	HP:0001249;HP:0020174
MONDO:0033547	Li-Ghorbani-Weisz-Hubshman syndrome	direct	10	OMIM:618974	28	5	0	3	2	23	HP:0001249;HP:0001999	OMIM:618974	28	5	0	3	2	23	HP:0001249;HP:0001999
MONDO:0033637	mitochondrial complex IV deficiency, nuclear type 7	direct	3	OMIM:619051	27	1	0	0	2	26	HP:0000238;HP:0001298	OMIM:619051	27	1	0	0	2	26	HP:0000238;HP:0001298
MONDO:0033639	mitochondrial complex IV deficiency, nuclear type 10	direct	2	OMIM:619053	15	0	0	0	2	15	HP:0001999;HP:0003128	OMIM:619053	15	0	0	0	2	15	HP:0001999;HP:0003128
MONDO:0033640	vitamin D-dependent rickets, type 3	direct	2	OMIM:619073	15	0	0	0	2	15	HP:0002748;HP:0100512	OMIM:619073	15	0	0	0	2	15	HP:0002748;HP:0100512
MONDO:0033656	mitochondrial complex IV deficiency, nuclear type 21	direct	3	OMIM:619065	20	1	0	0	2	19	HP:0001263;HP:0002352	OMIM:619065	20	1	0	0	2	19	HP:0001263;HP:0002352
MONDO:0036212	spastic paraparesis-cataracts-speech delay syndrome	direct	10	OMIM:619338	15	5	0	3	2	10	HP:0001249;HP:0011448	OMIM:619338	15	5	0	3	2	10	HP:0001249;HP:0011448
MONDO:0044877	paraneoplastic cerebellar degeneration	direct	12	ORPHA:623626	24	6	4	0	2	18	HP:0002321;HP:0002540	ORPHA:623626	24	6	4	0	2	18	HP:0002321;HP:0002540
MONDO:0054577	bleeding disorder, platelet-type, 21	direct	5	OMIM:617443	12	2	0	1	2	10	HP:0012483;HP:0030397	OMIM:617443	12	2	0	1	2	10	HP:0012483;HP:0030397
MONDO:0054845	developmental and epileptic encephalopathy, 66	direct	20	OMIM:618067	48	12	1	5	2	36	HP:0002119;HP:0007033	OMIM:618067	48	12	1	5	2	36	HP:0002119;HP:0007033
MONDO:0060496	neurodevelopmental disorder with hypotonia, neuropathy, and deafness	direct	22	OMIM:617519	45	19	1	0	2	26	HP:0001251;HP:0006855	OMIM:617519	45	19	1	0	2	26	HP:0001251;HP:0006855
MONDO:0100249	46,XX testicular disorder of sex development	direct	8	ORPHA:393	4	2	0	0	6	2	HP:0000027;HP:0000028;HP:0000047;HP:0000771;HP:0000815;HP:0003251	OMIM:278850;OMIM:300833;OMIM:400045;OMIM:617480;ORPHA:393	33	5	1	0	2	28	HP:0000028;HP:0000815
MONDO:0100294	mitochondrial complex II deficiency, nuclear type 1	direct	9	OMIM:252011;ORPHA:3208	78	5	0	2	2	73	HP:0001298;HP:0001508	OMIM:252011;ORPHA:3208	78	5	0	2	2	73	HP:0001298;HP:0001508
MONDO:0100325	odontochondrodysplasia 1	direct	12	OMIM:184260;ORPHA:166272	54	8	1	1	2	46	HP:0000238;HP:0005562	OMIM:184260;ORPHA:166272	54	8	1	1	2	46	HP:0000238;HP:0005562
MONDO:0100605	POLR-related leukodystrophy	direct	20	ORPHA:289494	32	16	2	0	2	16	HP:0001270;HP:0002376	OMIM:607694;OMIM:614381;OMIM:616494;OMIM:619310;OMIM:620675;ORPHA:289494;ORPHA:447896	113	19	0	1	0	94	
MONDO:0859182	Short stature, Dauber-Argente type	direct	6	OMIM:619489	17	4	0	0	2	13	HP:0000855;HP:0003100	OMIM:619489	17	4	0	0	2	13	HP:0000855;HP:0003100
MONDO:0859249	parenti-mignot neurodevelopmental syndrome	direct	8	OMIM:619873	26	5	0	1	2	21	HP:0001263;HP:0001999	OMIM:619873	26	5	0	1	2	21	HP:0001263;HP:0001999
MONDO:0859251	Dentici-Novelli neurodevelopmental syndrome	direct	8	OMIM:619877	29	2	0	4	2	27	HP:0001332;HP:0200134	OMIM:619877	29	2	0	4	2	27	HP:0001332;HP:0200134
MONDO:0859272	neurodevelopmental disorder with speech delay and variable ocular anomalies	direct	7	OMIM:619989	24	4	0	1	2	20	HP:0000708;HP:0001999	OMIM:619989	24	4	0	1	2	20	HP:0000708;HP:0001999
MONDO:0859287	neurodevelopmental disorder with microcephaly, hypotonia, and absent language	direct	11	OMIM:620038	11	8	0	1	2	3	HP:0001510;HP:0001999	OMIM:620038	11	8	0	1	2	3	HP:0001510;HP:0001999
MONDO:0859519	neurodevelopmental disorder with absent speech and movement and behavioral abnormalities	direct	24	OMIM:620270	26	22	0	0	2	4	HP:0001250;HP:0001344	OMIM:620270	26	22	0	0	2	4	HP:0001250;HP:0001344
MONDO:0957225	neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities	direct	6	OMIM:620327	27	4	0	0	2	23	HP:0000252;HP:0002180	OMIM:620327	27	4	0	0	2	23	HP:0000252;HP:0002180
MONDO:0957274	spastic paraplegia 89, autosomal recessive	direct	11	OMIM:620379	17	7	0	2	2	10	HP:0000708;HP:0001328	OMIM:620379	17	7	0	2	2	10	HP:0000708;HP:0001328
MONDO:0957988	osteogenesis imperfecta, type 23	direct	6	OMIM:620639	16	2	0	2	2	14	HP:0003016;HP:0003026	OMIM:620639	16	2	0	2	2	14	HP:0003016;HP:0003026
MONDO:0958189	basal cell nevus syndrome 2	direct	5	OMIM:620343	19	3	0	0	2	16	HP:0010603;HP:0010618	OMIM:620343	19	3	0	0	2	16	HP:0010603;HP:0010618
MONDO:0971063	autosomal dominant dopa-responsive dystonia	direct	13	ORPHA:98808	33	8	0	3	2	25	HP:0001249;HP:0001258	OMIM:128230;OMIM:619911;ORPHA:98808	62	9	1	3	0	53	
MONDO:0971176	ovarian dysgenesis 11	direct	8	OMIM:620897	11	6	0	0	2	5	HP:0000815;HP:0008209	OMIM:620897	11	6	0	0	2	5	HP:0000815;HP:0008209
MONDO:0971177	immunodeficiency 123 with HPV-related verrucosis	direct	7	OMIM:620901	11	5	0	0	2	6	HP:0011840;HP:0032140	OMIM:620901	11	5	0	0	2	6	HP:0011840;HP:0032140
MONDO:0980970	mitochondrial complex 4 deficiency, nuclear type 25	direct	4	OMIM:621487	24	1	0	1	2	23	HP:0001298;HP:0001508	OMIM:621487	24	1	0	1	2	23	HP:0001298;HP:0001508
MONDO:8000018	benign paroxysmal positional vertigo	direct	4	OMIM:193007	6	1	1	0	2	5	HP:0000639;HP:0002018	OMIM:193007	6	1	1	0	2	5	HP:0000639;HP:0002018
MONDO:0001676	erythropoietic protoporphyria	subtree_only	8									OMIM:177000;OMIM:300752;OMIM:618015;ORPHA:79278	22	6	0	0	2	16	HP:0002611;HP:0100725
MONDO:0002462	glomerulonephritis	subtree_only	14									OMIM:608710;OMIM:609814;OMIM:614809;OMIM:615008;ORPHA:183;ORPHA:329903;ORPHA:329918;ORPHA:34145;ORPHA:54370;ORPHA:900;ORPHA:93126;ORPHA:97560	200	12	0	0	2	188	HP:0003124;HP:0100520
MONDO:0003233	essential tremor	subtree_only	6									OMIM:190300;OMIM:602134;OMIM:614782;OMIM:616736;OMIM:618866	26	3	0	1	2	23	HP:0001618;HP:0100543
MONDO:0003816	articular cartilage disorder	subtree_only	4									OMIM:168900;ORPHA:728	55	1	1	0	2	54	HP:0001386;HP:0030839
MONDO:0004596	cor pulmonale	subtree_only	6									ORPHA:275766	16	4	0	0	2	12	HP:0012398;HP:0012416
MONDO:0005150	age-related macular degeneration	subtree_only	7									OMIM:153800;OMIM:603075;OMIM:608895;OMIM:610149;OMIM:610698;OMIM:611953;OMIM:613757;OMIM:616170	35	4	1	0	2	31	HP:0012508;HP:0032036
MONDO:0005155	cirrhosis of liver	subtree_only	9									OMIM:109720;OMIM:215600;ORPHA:186	52	7	0	0	2	45	HP:0002239;HP:0003256
MONDO:0005349	otosclerosis	subtree_only	5									OMIM:166800;OMIM:608244;OMIM:611571;OMIM:611572;OMIM:612096;OMIM:615589;OMIM:620576;OMIM:620792	15	2	1	0	2	13	HP:0000360;HP:0001751
MONDO:0005439	familial hypercholesterolemia	subtree_only	18									OMIM:143890;OMIM:144010;OMIM:603776;ORPHA:209902;ORPHA:391665	48	15	0	1	2	33	HP:0001650;HP:0002140
MONDO:0005812	influenza	subtree_only	10									ORPHA:454836	41	8	0	0	2	33	HP:0025143;HP:0031417
MONDO:0009807	osteosarcoma	subtree_only	4									OMIM:259500;ORPHA:668	15	1	1	0	2	14	HP:0001288;HP:0100526
MONDO:0011849	psoriatic arthritis	subtree_only	8									ORPHA:85436	29	6	0	0	2	23	HP:0008404;HP:0033631
MONDO:0015517	common variable immunodeficiency	subtree_only	13									OMIM:146830;OMIM:240500;OMIM:607594;OMIM:613493;OMIM:613494;OMIM:613495;OMIM:613496;OMIM:614699;OMIM:614700;OMIM:615577;OMIM:615767;OMIM:616576;OMIM:616873;OMIM:617765;OMIM:620670;ORPHA:293978	147	11	0	0	2	136	HP:0002955;HP:0006530
MONDO:0015700	immunodeficiency due to a late component of complement deficiency	subtree_only	6									OMIM:609536;OMIM:610102;OMIM:612446;OMIM:613789;OMIM:613790;OMIM:613825	13	2	1	1	2	11	HP:0003095;HP:0100806
MONDO:0015999	primary pigmented nodular adrenocortical disease	subtree_only	10									OMIM:610475;OMIM:610489;OMIM:614190;OMIM:615830	39	8	0	0	2	31	HP:0001003;HP:0004322
MONDO:0016140	sarcoglycanopathy	subtree_only	10									OMIM:253700;OMIM:601287;OMIM:604286;OMIM:606685;OMIM:608099;ORPHA:119;ORPHA:219;ORPHA:353;ORPHA:62	76	7	0	1	2	69	HP:0002460;HP:0002747
MONDO:0016374	cranial neuralgia	subtree_only	7									OMIM:190400;ORPHA:221091;ORPHA:221098	41	3	2	0	2	38	HP:0012532;HP:0031731
MONDO:0017010	partial duplication of the long arm of chromosome X	subtree_only	32									OMIM:300260;OMIM:300869;OMIM:300942;OMIM:300979;ORPHA:1762;ORPHA:261483;ORPHA:293939;ORPHA:300373;ORPHA:314389;ORPHA:521258	207	19	7	4	2	188	HP:0000133;HP:0001528
MONDO:0017708	mevalonate kinase deficiency	subtree_only	18									OMIM:260920;OMIM:610377;ORPHA:29;ORPHA:343	90	13	1	2	2	77	HP:0032154;HP:0033168
MONDO:0017759	disorder of catecholamine synthesis	subtree_only	8									OMIM:223360;OMIM:608643;ORPHA:230;ORPHA:35708	98	4	0	2	2	94	HP:0001300;HP:0004923
MONDO:0018116	galactosemia	subtree_only	15									OMIM:230200;OMIM:230350;OMIM:230400;OMIM:618881;ORPHA:570422;ORPHA:79237;ORPHA:79238;ORPHA:79239	102	10	3	0	2	92	HP:0000124;HP:0001892
MONDO:0018215	paraneoplastic neurologic syndrome	subtree_only	10									ORPHA:1183;ORPHA:2905;ORPHA:43393;ORPHA:623626;ORPHA:71505	142	6	1	1	2	136	HP:0000763;HP:0004389
MONDO:0018943	myofibrillar myopathy	subtree_only	19									OMIM:117000;OMIM:601419;OMIM:609200;OMIM:609452;OMIM:609524;OMIM:612954;OMIM:613869;OMIM:617114;OMIM:617258;OMIM:619040;OMIM:619178;OMIM:619424;OMIM:621078;ORPHA:171445;ORPHA:597;ORPHA:98909;ORPHA:98911;ORPHA:98912	258	14	2	1	2	244	HP:0000518;HP:0100284
MONDO:0018994	Charcot-Marie-Tooth disease type X	subtree_only	12									OMIM:300905;OMIM:302800;OMIM:302801;OMIM:302802;OMIM:310490;OMIM:311070;ORPHA:101075;ORPHA:101076;ORPHA:101077;ORPHA:101078;ORPHA:352675;ORPHA:99014	106	10	0	0	2	96	HP:0002401;HP:0011400
MONDO:0019172	aniridia	subtree_only	13									OMIM:106210;OMIM:617141;OMIM:617142;ORPHA:250923	46	9	1	1	2	37	HP:0001249;HP:0002667
MONDO:0019234	peroxisome biogenesis disorder	subtree_only	14									OMIM:202370;OMIM:214100;OMIM:214110;OMIM:215100;OMIM:234580;OMIM:266510;OMIM:601539;OMIM:614859;OMIM:614862;OMIM:614863;OMIM:614866;OMIM:614867;OMIM:614870;OMIM:614871;OMIM:614872;OMIM:614873;OMIM:614876;OMIM:614877;OMIM:614879;OMIM:614882;OMIM:614883;OMIM:614885;OMIM:614886;OMIM:614887;OMIM:614920;OMIM:616617;OMIM:616716;OMIM:617370;ORPHA:772;ORPHA:912;ORPHA:95433	384	11	0	1	2	373	HP:0000488;HP:0001635
MONDO:0019260	adult neuronal ceroid lipofuscinosis	subtree_only	11									OMIM:162350;OMIM:614706;OMIM:615362	44	8	1	0	2	36	HP:0000739;HP:0010852
MONDO:0019403	congenital dyserythropoietic anemia	subtree_only	17									OMIM:105600;OMIM:224100;OMIM:224120;OMIM:300835;OMIM:612714;OMIM:613673;OMIM:615631;OMIM:619789;OMIM:620969;ORPHA:67044;ORPHA:98870	115	14	0	1	2	101	HP:0001978;HP:0012465
MONDO:0019624	acquired angioedema	subtree_only	5									ORPHA:100057	11	3	0	0	2	8	HP:0005225;HP:0012398
MONDO:0020135	pontocerebellar hypoplasia	subtree_only	11									OMIM:225753;OMIM:277470;OMIM:607596;OMIM:608027;OMIM:610204;OMIM:611523;OMIM:612389;OMIM:612390;OMIM:613811;OMIM:614678;OMIM:614961;OMIM:614969;OMIM:615803;OMIM:615809;OMIM:615851;OMIM:616081;OMIM:617026;OMIM:617695;OMIM:618065;OMIM:618266;OMIM:618606;OMIM:619301;OMIM:619302;OMIM:619303;OMIM:619304;OMIM:619527;OMIM:619909;ORPHA:166063;ORPHA:2254;ORPHA:2524;ORPHA:284339;ORPHA:411493	336	8	0	1	2	328	HP:0002180;HP:0003128
MONDO:0020640	autoimmune encephalitis	subtree_only	7									ORPHA:623615;ORPHA:83601	41	3	0	2	2	38	HP:0004372;HP:0100660
MONDO:0024503	digestive system neuroendocrine neoplasm	subtree_only	9									OMIM:114900;ORPHA:100075;ORPHA:100078;ORPHA:100079;ORPHA:100080;ORPHA:100081;ORPHA:100082;ORPHA:100085;ORPHA:100086;ORPHA:97261;ORPHA:97278;ORPHA:97279;ORPHA:97280;ORPHA:97282;ORPHA:97283	170	6	0	1	2	164	HP:0004398;HP:0031284
MONDO:0100150	RYR1-related myopathy	subtree_only	16									OMIM:117000;OMIM:255320;OMIM:619542;ORPHA:424107;ORPHA:597;ORPHA:98905	113	12	2	0	2	101	HP:0000766;HP:0012378
MONDO:0100442	RP2-related retinopathy	subtree_only	5									OMIM:312600	17	3	0	0	2	14	HP:0000512;HP:0007663
MONDO:0100449	FLVCR1-related retinopathy with or without ataxia	subtree_only	10									OMIM:609033;ORPHA:88628	51	6	1	1	2	45	HP:0001133;HP:0011505
MONDO:0100494	autosomal dominant titinopathy	subtree_only	6									OMIM:600334;OMIM:603689;OMIM:604145;OMIM:613765;ORPHA:178464;ORPHA:609	60	2	0	2	2	58	HP:0001371;HP:0003327
MONDO:0700243	CACNA1F-related retinopathy	subtree_only	14									OMIM:300071;OMIM:300476;OMIM:300600;ORPHA:178333	27	8	2	2	2	19	HP:0000533;HP:0030502
MONDO:0000030	familial sleep-related hypermotor epilepsy	direct	17	ORPHA:98784	21	16	0	0	1	5	HP:6000456	OMIM:600513;OMIM:603204;OMIM:605375;OMIM:610353;OMIM:615005;ORPHA:98784	37	16	0	0	1	21	HP:6000456
MONDO:0000107	auriculocondylar syndrome	direct	10	ORPHA:137888	33	8	1	0	1	25	HP:0001561	OMIM:602483;OMIM:612798;OMIM:614669;OMIM:615706;OMIM:620457;OMIM:620458;ORPHA:137888	75	9	0	0	1	66	HP:0001561
MONDO:0000193	cortisone reductase deficiency	direct	16	ORPHA:168588	10	10	0	0	6	0	HP:0000098;HP:0000789;HP:0000876;HP:0001007;HP:0005616;HP:0012743	OMIM:604931;OMIM:614662;ORPHA:168588	28	14	1	0	1	14	HP:0000098
MONDO:0000453	short QT syndrome	direct	7	ORPHA:51083	9	6	0	0	1	3	HP:0005135	OMIM:609620;OMIM:609621;OMIM:609622;OMIM:620231;ORPHA:51083	16	6	0	0	1	10	HP:0005135
MONDO:0000903	myoclonus-dystonia syndrome	direct	12	ORPHA:36899	11	11	0	0	1	0	HP:0030955	OMIM:159900;OMIM:607488;OMIM:616398;ORPHA:36899	32	12	0	0	0	20	
MONDO:0001347	facioscapulohumeral muscular dystrophy	direct	6	ORPHA:269	37	4	0	1	1	33	HP:0003326	OMIM:158900;OMIM:158901;OMIM:619477;OMIM:619478;ORPHA:269	65	4	0	1	1	61	HP:0003326
MONDO:0004114	urinary bladder small cell neuroendocrine carcinoma	direct	4	ORPHA:284400	6	2	1	0	1	4	HP:0100515	ORPHA:284400	6	2	1	0	1	4	HP:0100515
MONDO:0004976	amyotrophic lateral sclerosis	direct	46	ORPHA:803	47	45	0	0	1	2	HP:0002747	OMIM:105400;OMIM:105550;OMIM:205100;OMIM:205200;OMIM:300857;OMIM:600795;OMIM:602099;OMIM:602433;OMIM:606070;OMIM:606640;OMIM:608030;OMIM:608627;OMIM:611895;OMIM:612069;OMIM:612577;OMIM:613435;OMIM:613954;OMIM:614373;OMIM:614808;OMIM:615426;OMIM:615515;OMIM:615911;OMIM:616208;OMIM:616437;OMIM:616439;OMIM:617839;OMIM:619132;OMIM:619133;OMIM:619141;OMIM:620285;OMIM:620452;ORPHA:300605;ORPHA:357043;ORPHA:803	223	46	0	0	0	177	
MONDO:0005060	liposarcoma	direct	3	ORPHA:69078	9	0	1	0	2	9	HP:0003270;HP:0012031	OMIM:613488;ORPHA:69078;ORPHA:99967;ORPHA:99969;ORPHA:99971	14	0	1	1	1	14	HP:0003270
MONDO:0005081	preeclampsia	direct	10	ORPHA:275555	27	7	2	0	1	20	HP:0001878	OMIM:189800;OMIM:609404;OMIM:614595;ORPHA:244242;ORPHA:275555	57	9	1	0	0	48	
MONDO:0005090	schizophrenia	direct	3	OMIM:181500	7	2	0	0	1	5	HP:0030213	OMIM:181500;OMIM:181510;OMIM:600511;OMIM:605419;OMIM:613950;OMIM:614332;OMIM:617629;OMIM:621407;ORPHA:641496	150	2	1	0	0	148	
MONDO:0005486	tooth agenesis	direct	6	ORPHA:99798	23	1	4	0	1	22	HP:0100834	OMIM:106600;OMIM:150400;OMIM:313500;OMIM:604625;OMIM:616724;OMIM:617073;OMIM:617275;OMIM:620173;ORPHA:99798	62	5	0	0	1	57	HP:0100834
MONDO:0005512	malignant peritoneal mesothelioma	direct	6	ORPHA:168811	10	4	0	1	1	6	HP:0033842	ORPHA:168811	10	4	0	1	1	6	HP:0033842
MONDO:0005526	tetanus	direct	6	ORPHA:3299	30	4	0	1	1	26	HP:0002878	ORPHA:3299	30	4	0	1	1	26	HP:0002878
MONDO:0005575	colorectal cancer	direct	6	OMIM:114500	8	1	0	0	5	7	HP:0001824;HP:0001903;HP:0002027;HP:0002573;HP:0012378	OMIM:105580;OMIM:114500;OMIM:120435;OMIM:158320;OMIM:609310;OMIM:613244;OMIM:614331;OMIM:614337;OMIM:614350;OMIM:614385;ORPHA:100082;ORPHA:144;ORPHA:26790;ORPHA:424016;ORPHA:424019;ORPHA:440437	123	5	0	0	1	118	HP:0001903
MONDO:0005620	cerebral amyloid angiopathy	direct	7	ORPHA:85458	13	5	0	1	1	8	HP:0002326	OMIM:105150;OMIM:117300;OMIM:176500;OMIM:605714;ORPHA:100006;ORPHA:100008;ORPHA:324703;ORPHA:324708;ORPHA:324713;ORPHA:324723;ORPHA:85458	50	5	1	1	0	45	
MONDO:0005657	aspergillosis	direct	11	ORPHA:1163	56	9	0	0	2	47	HP:0001824;HP:0033655	OMIM:103920;ORPHA:1163;ORPHA:1164	67	10	0	0	1	57	HP:0033655
MONDO:0005828	listeriosis	direct	11	ORPHA:533	68	9	0	1	1	59	HP:0025116	ORPHA:533	68	9	0	1	1	59	HP:0025116
MONDO:0005854	mixed connective tissue disease	direct	4	ORPHA:809	68	2	0	1	1	66	HP:0003198	ORPHA:809	68	2	0	1	1	66	HP:0003198
MONDO:0006065	lactose intolerance adult type	direct	4	OMIM:223100	9	3	0	0	1	6	HP:0003270	OMIM:223100	9	3	0	0	1	6	HP:0003270
MONDO:0006451	thymic carcinoma	direct	7	ORPHA:99868	13	4	1	1	1	9	HP:0033827	ORPHA:99868	13	4	1	1	1	9	HP:0033827
MONDO:0007043	Pfeiffer syndrome	direct	11	OMIM:101600;ORPHA:710	47	8	0	2	1	39	HP:0011800	OMIM:101600;ORPHA:710;ORPHA:93258;ORPHA:93259;ORPHA:93260	81	10	0	1	0	71	
MONDO:0007080	glucocorticoid-remediable aldosteronism	direct	12	OMIM:103900;ORPHA:403	26	9	1	1	1	17	HP:0011410	OMIM:103900;ORPHA:403	26	9	1	1	1	17	HP:0011410
MONDO:0007097	Finnish type amyloidosis	direct	10	OMIM:105120;ORPHA:85448	57	6	3	0	1	51	HP:0031546	OMIM:105120;ORPHA:85448	57	6	3	0	1	51	HP:0031546
MONDO:0007108	anal canal carcinoma	direct	4	OMIM:105580	2	1	0	0	3	1	HP:0002573;HP:0034751;HP:0500005	OMIM:105580;ORPHA:100082;ORPHA:424016;ORPHA:424019	40	2	1	0	1	38	HP:0500005
MONDO:0007134	Cooks syndrome	direct	5	OMIM:106995;ORPHA:1487	22	2	0	2	1	20	HP:0009843	OMIM:106995;ORPHA:1487	22	2	0	2	1	20	HP:0009843
MONDO:0007182	Machado-Joseph disease	direct	14	OMIM:109150;ORPHA:98757	51	8	1	2	3	43	HP:0001324;HP:0002080;HP:0009830	OMIM:109150;ORPHA:276238;ORPHA:276241;ORPHA:276244;ORPHA:98757	65	9	1	3	1	56	HP:0002080
MONDO:0007187	nevoid basal cell carcinoma syndrome	direct	29	ORPHA:377	45	21	3	1	4	24	HP:0000639;HP:0000766;HP:0000912;HP:0001056	OMIM:109400;OMIM:620343;ORPHA:377	79	25	2	1	1	54	HP:0000639
MONDO:0007201	blepharophimosis, ptosis, and epicanthus inversus syndrome	direct	10	OMIM:110100;ORPHA:126	29	8	0	1	1	21	HP:0000646	OMIM:110100;ORPHA:126	29	8	0	1	1	21	HP:0000646
MONDO:0007215	brachydactyly type A1	direct	14	OMIM:112500;ORPHA:93388	31	12	1	0	1	19	HP:0003795	OMIM:112500;ORPHA:93388	31	12	1	0	1	19	HP:0003795
MONDO:0007221	brachydactyly type C	direct	7	OMIM:113100;ORPHA:93384	46	5	0	1	1	41	HP:0030367	OMIM:113100;ORPHA:93384	46	5	0	1	1	41	HP:0030367
MONDO:0007340	cleidocranial dysplasia 1	direct	23	OMIM:119600;ORPHA:1452	95	19	2	1	1	76	HP:0000327	OMIM:119600;ORPHA:1452	95	19	2	1	1	76	HP:0000327
MONDO:0007420	autosomal dominant deafness - onychodystrophy syndrome	direct	11	OMIM:124480;ORPHA:79499	32	6	4	0	1	26	HP:0011300	OMIM:124480;ORPHA:79499	32	6	4	0	1	26	HP:0011300
MONDO:0007473	Duane retraction syndrome	direct	10	ORPHA:233	62	8	1	0	1	54	HP:0000539	OMIM:126800;OMIM:604356;OMIM:617041;ORPHA:233	66	9	0	0	1	57	HP:0000539
MONDO:0007488	Lewy body dementia	direct	4	OMIM:127750	7	3	0	0	1	4	HP:5200291	OMIM:127750	7	3	0	0	1	4	HP:5200291
MONDO:0007523	Ehlers-Danlos syndrome, hypermobility type	direct	28	OMIM:130020;ORPHA:285	78	23	3	1	1	55	HP:0009830	OMIM:130020;ORPHA:285	78	23	3	1	1	55	HP:0009830
MONDO:0007542	Camurati-Engelmann disease	direct	11	ORPHA:1328	54	4	3	1	3	50	HP:0002516;HP:0003717;HP:0009763	OMIM:131300;OMIM:606631;ORPHA:1328	79	6	4	0	1	73	HP:0002516
MONDO:0007608	desmoid tumor	direct	5	OMIM:135290;ORPHA:873	26	3	0	1	1	23	HP:0012532	OMIM:135290;ORPHA:873	26	3	0	1	1	23	HP:0012532
MONDO:0007650	MALT lymphoma	direct	4	OMIM:137245;ORPHA:52417	20	2	1	0	1	18	HP:0410019	OMIM:137245;ORPHA:52417	20	2	1	0	1	18	HP:0410019
MONDO:0007727	TNF receptor 1-associated periodic fever syndrome	direct	10	OMIM:142680;ORPHA:32960	55	7	1	1	1	48	HP:0000093	OMIM:142680;ORPHA:32960	55	7	1	1	1	48	HP:0000093
MONDO:0007791	familial hypocalciuric hypercalcemia 1	direct	3	OMIM:145980	9	2	0	0	1	7	HP:0000934	OMIM:145980	9	2	0	0	1	7	HP:0000934
MONDO:0007803	multiple system atrophy	direct	10	ORPHA:102	27	5	2	0	3	22	HP:0000020;HP:0002015;HP:0003552	OMIM:271930;OMIM:500003;OMIM:609161;OMIM:616922;OMIM:617054;ORPHA:102;ORPHA:225154;ORPHA:227510;ORPHA:228169;ORPHA:441;ORPHA:98933	122	8	1	0	1	114	HP:0003552
MONDO:0007893	Noonan syndrome with multiple lentigines	direct	12	ORPHA:500	50	9	0	2	1	41	HP:0000957	OMIM:151100;OMIM:611554;OMIM:613707;ORPHA:500	99	11	0	1	0	88	
MONDO:0007943	Nager acrofacial dysostosis	direct	10	OMIM:154400;ORPHA:245	98	7	2	0	1	91	HP:0012372	OMIM:154400;ORPHA:245	98	7	2	0	1	91	HP:0012372
MONDO:0007959	medulloblastoma	direct	5	OMIM:155255;ORPHA:616	38	2	1	1	1	36	HP:0001085	OMIM:155255;ORPHA:616	38	2	1	1	1	36	HP:0001085
MONDO:0007972	Meniere disease	direct	5	OMIM:156000	5	1	2	1	1	4	HP:0002017	OMIM:156000	5	1	2	1	1	4	HP:0002017
MONDO:0007983	Schmid metaphyseal chondrodysplasia	direct	14	OMIM:156500;ORPHA:174	50	11	1	1	1	39	HP:0002194	OMIM:156500;ORPHA:174	50	11	1	1	1	39	HP:0002194
MONDO:0008029	Bethlem myopathy	direct	25	ORPHA:610	38	10	4	2	9	28	HP:0000473;HP:0000977;HP:0001270;HP:0001319;HP:0001558;HP:0002808;HP:0003557;HP:0010562;HP:0100297	OMIM:158810;OMIM:616471;OMIM:620725;OMIM:620726;ORPHA:536516;ORPHA:610	126	21	3	0	1	105	HP:0010562
MONDO:0008056	myotonic dystrophy type 1	direct	11	OMIM:160900;ORPHA:273	121	10	0	0	1	111	HP:0100785	OMIM:160900;ORPHA:273;ORPHA:589821	142	10	1	0	0	132	
MONDO:0008090	cyclic hematopoiesis	direct	8	OMIM:162800;ORPHA:2686	35	6	1	0	1	29	HP:0011107	OMIM:162800;ORPHA:2686	35	6	1	0	1	29	HP:0011107
MONDO:0008119	spinocerebellar ataxia type 1	direct	20	OMIM:164400;ORPHA:98755	76	17	2	0	1	59	HP:0033051	OMIM:164400;ORPHA:98755	76	17	2	0	1	59	HP:0033051
MONDO:0008185	hereditary chronic pancreatitis	direct	6	OMIM:167800;ORPHA:676	17	3	2	0	1	14	HP:0006725	OMIM:167800;OMIM:608189;ORPHA:103918;ORPHA:676	30	5	1	0	0	25	
MONDO:0008219	pemphigus vulgaris	direct	22	OMIM:169610;ORPHA:704	22	20	0	0	2	2	HP:0002015;HP:0200041	OMIM:169610;ORPHA:704;ORPHA:79479	43	21	0	0	1	22	HP:0002015
MONDO:0008223	hypokalemic periodic paralysis	direct	4	ORPHA:681	20	1	0	2	1	19	HP:0003325	OMIM:170400;OMIM:613345;ORPHA:681	33	3	1	0	0	30	
MONDO:0008260	Kindler syndrome	direct	11	OMIM:173650;ORPHA:2908	59	10	0	0	1	49	HP:0008404	OMIM:173650;ORPHA:2907;ORPHA:2908	92	11	0	0	0	81	
MONDO:0008323	Liddle syndrome	direct	14	ORPHA:526	9	9	0	0	5	0	HP:0001712;HP:0001949;HP:0003351;HP:0004319;HP:0200114	OMIM:177200;OMIM:618114;OMIM:618126;ORPHA:526	17	13	0	0	1	4	HP:0001712
MONDO:0008373	retinal arterial tortuosity	direct	4	OMIM:180000	6	3	0	0	1	3	HP:0000603	OMIM:180000	6	3	0	0	1	3	HP:0000603
MONDO:0008380	retinoblastoma	direct	6	ORPHA:790	27	3	0	2	1	24	HP:0200026	OMIM:180200;ORPHA:790	32	3	0	2	1	29	HP:0200026
MONDO:0008394	Silver-Russell syndrome	direct	11	ORPHA:813	53	6	1	1	3	47	HP:0001263;HP:0001518;HP:0007018	OMIM:180860;OMIM:616489;OMIM:618905;OMIM:618907;OMIM:618908;ORPHA:231137;ORPHA:231140;ORPHA:231144;ORPHA:231147;ORPHA:813;ORPHA:96182	150	10	0	0	1	140	HP:0007018
MONDO:0008426	Shprintzen-Goldberg syndrome	direct	10	OMIM:182212;ORPHA:2462	83	6	1	2	1	77	HP:0001519	OMIM:182212;ORPHA:2462	83	6	1	2	1	77	HP:0001519
MONDO:0008433	small cell lung carcinoma	direct	2	OMIM:182280	2	0	0	1	1	2	HP:0004375	OMIM:182280	2	0	0	1	1	2	HP:0004375
MONDO:0008436	Sneddon syndrome	direct	3	OMIM:182410;ORPHA:820	70	2	0	0	1	68	HP:0001873	OMIM:182410;ORPHA:820	70	2	0	0	1	68	HP:0001873
MONDO:0008458	spinocerebellar ataxia type 2	direct	13	OMIM:183090;ORPHA:98756	59	10	0	2	1	49	HP:0003477	OMIM:183090;ORPHA:98756	59	10	0	2	1	49	HP:0003477
MONDO:0008471	spondyloepiphyseal dysplasia congenita	direct	19	OMIM:183900;ORPHA:94068	67	16	1	1	1	51	HP:0002663	OMIM:183900;ORPHA:94068	67	16	1	1	1	51	HP:0002663
MONDO:0008553	platelet-type bleeding disorder 17	direct	7	OMIM:187900	19	5	0	1	1	14	HP:0033536	OMIM:187900	19	5	0	1	1	14	HP:0033536
MONDO:0008684	Wolf-Hirschhorn syndrome	direct	23	OMIM:194190;ORPHA:280	142	12	6	4	1	130	HP:0002896	OMIM:194190;ORPHA:280	142	12	6	4	1	130	HP:0002896
MONDO:0008695	VPS13A-related neurodegenerative disease	direct	13	OMIM:200150;ORPHA:2388	106	10	0	2	1	96	HP:0001271	OMIM:200150;ORPHA:2388	106	10	0	2	1	96	HP:0001271
MONDO:0008703	acromesomelic dysplasia 2A	direct	8	OMIM:200700;ORPHA:2098	37	3	0	4	1	34	HP:0001373	OMIM:200700;ORPHA:2098	37	3	0	4	1	34	HP:0001373
MONDO:0008763	Alstrom syndrome	direct	17	OMIM:203800;ORPHA:64	144	15	0	1	1	129	HP:0001723	OMIM:203800;ORPHA:64	144	15	0	1	1	129	HP:0001723
MONDO:0008787	microcytic anemia with liver iron overload	direct	4	OMIM:206100	9	3	0	0	1	6	HP:0012463	OMIM:206100	9	3	0	0	1	6	HP:0012463
MONDO:0008818	arterial tortuosity syndrome	direct	14	OMIM:208050;ORPHA:3342	95	12	0	1	1	83	HP:0002643	OMIM:208050;ORPHA:3342	95	12	0	1	1	83	HP:0002643
MONDO:0008827	progressive pseudorheumatoid arthropathy of childhood	direct	13	OMIM:208230;ORPHA:1159	56	9	1	2	1	47	HP:0006237	OMIM:208230;ORPHA:1159	56	9	1	2	1	47	HP:0006237
MONDO:0008842	ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	direct	15	OMIM:208920;ORPHA:1168	40	10	3	1	1	30	HP:0006254	OMIM:208920;ORPHA:1168	40	10	3	1	1	30	HP:0006254
MONDO:0008855	MHC class II deficiency	direct	24	ORPHA:572	38	23	0	0	1	15	HP:0005354	OMIM:209920;OMIM:620815;OMIM:620816;OMIM:620817;OMIM:620818;ORPHA:572	88	23	0	0	1	65	HP:0005354
MONDO:0008863	sitosterolemia	direct	12	ORPHA:2882	13	8	2	1	1	5	HP:0001892	OMIM:210250;OMIM:618666;ORPHA:2882	33	12	0	0	0	21	
MONDO:0008865	Bietti crystalline corneoretinal dystrophy	direct	4	OMIM:210370;ORPHA:41751	26	2	0	1	1	24	HP:0030507	OMIM:210370;ORPHA:41751	26	2	0	1	1	24	HP:0030507
MONDO:0008876	Bloom syndrome	direct	20	OMIM:210900;ORPHA:125	99	17	1	1	1	82	HP:0000821	OMIM:210900;ORPHA:125	99	17	1	1	1	82	HP:0000821
MONDO:0008889	thromboangiitis obliterans	direct	6	OMIM:211480;ORPHA:36258	20	4	1	0	1	16	HP:6000627	OMIM:211480;ORPHA:36258	20	4	1	0	1	16	HP:6000627
MONDO:0008926	COFS syndrome	direct	16	ORPHA:1466	33	8	3	2	3	25	HP:0000482;HP:0001508;HP:0002119	OMIM:214150;OMIM:278780;OMIM:610756;OMIM:610758;OMIM:616570;ORPHA:1466	128	15	0	0	1	113	HP:0000482
MONDO:0008960	Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome	direct	6	ORPHA:90103	29	2	0	3	1	27	HP:0001250	ORPHA:90103	29	2	0	3	1	27	HP:0001250
MONDO:0008972	rhizomelic chondrodysplasia punctata type 1	direct	8	OMIM:215100	29	5	0	2	1	24	HP:0008897	OMIM:215100	29	5	0	2	1	24	HP:0008897
MONDO:0008977	chondrosarcoma	direct	1	OMIM:215300	2	0	0	0	1	2	HP:0031459	OMIM:215300	2	0	0	0	1	2	HP:0031459
MONDO:0009006	complement component 2 deficiency	direct	2	OMIM:217000	3	1	0	0	1	2	HP:0002718	OMIM:217000	3	1	0	0	1	2	HP:0002718
MONDO:0009039	Baller-Gerold syndrome	direct	10	OMIM:218600;ORPHA:1225	113	9	0	0	1	104	HP:0006433	OMIM:218600;ORPHA:1225	113	9	0	0	1	104	HP:0006433
MONDO:0009092	polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly	direct	12	ORPHA:2770	28	6	2	1	3	22	HP:0002145;HP:0002500;HP:0002757	OMIM:221770;OMIM:618193;ORPHA:2770	59	9	1	1	1	50	HP:0002757
MONDO:0009114	congenital sucrase-isomaltase deficiency	direct	11	OMIM:222900;ORPHA:35122	19	9	1	0	1	10	HP:0004395	OMIM:222900;ORPHA:35122	19	9	1	0	1	10	HP:0004395
MONDO:0009151	cleft lip/palate-ectodermal dysplasia syndrome	direct	13	OMIM:225060;ORPHA:3253	61	6	4	2	1	55	HP:0002558	OMIM:225060;ORPHA:3253	61	6	4	2	1	55	HP:0002558
MONDO:0009242	brittle cornea syndrome	direct	10	ORPHA:90354	47	8	1	0	1	39	HP:6000015	OMIM:229200;OMIM:614170;ORPHA:90354	66	8	1	0	1	58	HP:6000015
MONDO:0009249	hereditary fructose intolerance	direct	15	OMIM:229600;ORPHA:469	44	11	1	2	1	33	HP:0011968	OMIM:229600;ORPHA:469	44	11	1	2	1	33	HP:0011968
MONDO:0009260	GM1 gangliosidosis type 1	direct	19	OMIM:230500;ORPHA:79255	81	16	2	0	1	65	HP:0002307	OMIM:230500;ORPHA:79255	81	16	2	0	1	65	HP:0002307
MONDO:0009276	Bernard-Soulier syndrome	direct	15	OMIM:231200;ORPHA:274	27	11	2	1	1	16	HP:0001891	OMIM:153670;OMIM:231200;ORPHA:274	35	12	2	0	1	23	HP:0001891
MONDO:0009281	glutaryl-CoA dehydrogenase deficiency	direct	13	OMIM:231670;ORPHA:25	78	9	2	1	1	69	HP:0001270	OMIM:231670;ORPHA:25	78	9	2	1	1	69	HP:0001270
MONDO:0009291	glycogen storage disease III	direct	9	OMIM:232400;ORPHA:366	25	6	2	0	1	19	HP:0001508	OMIM:232400;ORPHA:366	25	6	2	0	1	19	HP:0001508
MONDO:0009295	glycogen storage disease VII	direct	13	OMIM:232800;ORPHA:371	30	10	0	2	1	20	HP:0003201	OMIM:232800;ORPHA:371	30	10	0	2	1	20	HP:0003201
MONDO:0009299	46 XX gonadal dysgenesis	direct	9	ORPHA:243	24	6	2	0	1	18	HP:0000815	OMIM:233300;OMIM:300510;OMIM:611812;OMIM:614324;OMIM:617690;OMIM:618078;OMIM:618117;OMIM:618187;OMIM:619665;OMIM:619834;OMIM:620897;ORPHA:139466;ORPHA:243	68	9	0	0	0	59	
MONDO:0009367	McKusick-Kaufman syndrome	direct	7	OMIM:236700;ORPHA:2473	42	2	2	2	1	40	HP:0000041	OMIM:236700;ORPHA:2473	42	2	2	2	1	40	HP:0000041
MONDO:0009395	hyperostosis corticalis generalisata	direct	8	OMIM:239100;ORPHA:3416	17	4	2	1	1	13	HP:0002516	OMIM:239100;ORPHA:3416	17	4	2	1	1	13	HP:0002516
MONDO:0009401	hyperprolinemia type 2	direct	13	OMIM:239510;ORPHA:79101	56	12	0	0	1	44	HP:0003128	OMIM:239510;ORPHA:79101	56	12	0	0	1	44	HP:0003128
MONDO:0009434	hypoproteinemia, hypercatabolic	direct	6	OMIM:241600	19	5	0	0	1	14	HP:0025794	OMIM:241600	19	5	0	0	1	14	HP:0025794
MONDO:0009490	Papillon-Lefevre disease	direct	11	OMIM:245000;ORPHA:678	32	6	3	1	1	26	HP:0000975	OMIM:245000;ORPHA:678	32	6	3	1	1	26	HP:0000975
MONDO:0009499	Krabbe disease	direct	8	OMIM:245200;ORPHA:487	71	6	1	0	1	65	HP:0002415	OMIM:245200;ORPHA:206436;ORPHA:206443;ORPHA:206448;ORPHA:487	144	6	2	0	0	138	
MONDO:0009509	Landau-Kleffner syndrome	direct	7	ORPHA:98818	44	5	1	0	1	39	HP:5200410	ORPHA:98818	44	5	1	0	1	39	HP:5200410
MONDO:0009564	Marden-Walker syndrome	direct	15	OMIM:248700;ORPHA:2461	93	13	1	0	1	80	HP:0001284	OMIM:248700;ORPHA:2461	93	13	1	0	1	80	HP:0001284
MONDO:0009567	Marinesco-Sjogren syndrome	direct	13	OMIM:248800;ORPHA:559	66	11	0	1	1	55	HP:0001270	OMIM:248800;ORPHA:559	66	11	0	1	1	55	HP:0001270
MONDO:0009575	thiamine-responsive megaloblastic anemia syndrome	direct	9	OMIM:249270;ORPHA:49827	40	8	0	0	1	32	HP:0005518	OMIM:249270;ORPHA:49827	40	8	0	0	1	32	HP:0005518
MONDO:0009579	Frank-Ter Haar syndrome	direct	10	OMIM:249420;ORPHA:137834	86	7	0	2	1	79	HP:0001263	OMIM:249420;ORPHA:137834	86	7	0	2	1	79	HP:0001263
MONDO:0009588	Langer mesomelic dysplasia	direct	9	OMIM:249700;ORPHA:2632	29	6	1	1	1	23	HP:0000405	OMIM:249700;ORPHA:2632	29	6	1	1	1	23	HP:0000405
MONDO:0009624	microcephaly and chorioretinopathy 1	direct	12	OMIM:251270;ORPHA:2518	37	9	1	1	1	28	HP:0002079	OMIM:251270;ORPHA:2518	37	9	1	1	1	28	HP:0002079
MONDO:0009627	Galloway-Mowat syndrome	direct	17	ORPHA:2065	28	6	2	0	9	22	HP:0000097;HP:0000280;HP:0000648;HP:0001272;HP:0001967;HP:0002365;HP:0003429;HP:0012444;HP:0033725	OMIM:251300;OMIM:301006;OMIM:617729;OMIM:617730;OMIM:617731;OMIM:618347;OMIM:618348;OMIM:618349;OMIM:619603;OMIM:619609;ORPHA:2065	171	15	1	0	1	156	HP:0003429
MONDO:0009650	mucolipidosis type II	direct	10	OMIM:252500;ORPHA:576	143	7	0	2	1	136	HP:0000943	OMIM:252500;ORPHA:576	143	7	0	2	1	136	HP:0000943
MONDO:0009653	mucolipidosis type IV	direct	6	OMIM:252650;ORPHA:578	46	5	0	0	1	41	HP:0000556	OMIM:252650;ORPHA:578	46	5	0	0	1	41	HP:0000556
MONDO:0009665	biotinidase deficiency	direct	28	OMIM:253260;ORPHA:79241	52	26	0	1	1	26	HP:0001508	OMIM:253260;ORPHA:79241	52	26	0	1	1	26	HP:0001508
MONDO:0009693	plasma cell myeloma	direct	9	OMIM:254500;ORPHA:29073	36	7	0	1	1	29	HP:0002719	OMIM:254500;ORPHA:29073	36	7	0	1	1	29	HP:0002719
MONDO:0009696	juvenile myoclonic epilepsy	direct	5	OMIM:254770;ORPHA:307	16	2	2	0	1	14	HP:0010852	OMIM:254770;ORPHA:307	16	2	2	0	1	14	HP:0010852
MONDO:0009705	carnitine palmitoyl transferase 1A deficiency	direct	10	OMIM:255120;ORPHA:156	40	8	0	1	1	32	HP:0002480	OMIM:255120;ORPHA:156	40	8	0	1	1	32	HP:0002480
MONDO:0009710	Thomsen and Becker disease	direct	5	ORPHA:614	15	3	0	1	1	12	HP:0003236	OMIM:160800;OMIM:255700;ORPHA:614	27	4	0	0	1	23	HP:0003236
MONDO:0009756	Niemann-Pick disease type A	direct	6	OMIM:257200;ORPHA:77292	59	5	0	0	1	54	HP:0002180	OMIM:257200;ORPHA:77292	59	5	0	0	1	54	HP:0002180
MONDO:0009797	orotic aciduria	direct	19	OMIM:258900;ORPHA:30	27	17	1	0	1	10	HP:0001250	OMIM:258900;ORPHA:30	27	17	1	0	1	10	HP:0001250
MONDO:0009825	5-oxoprolinase deficiency	direct	6	OMIM:260005;ORPHA:33572	26	5	0	0	1	21	HP:0001510	OMIM:260005;ORPHA:33572	26	5	0	0	1	21	HP:0001510
MONDO:0009856	Peters plus syndrome	direct	24	OMIM:261540;ORPHA:709	134	17	2	4	1	117	HP:0000568	OMIM:261540;ORPHA:709	134	17	2	4	1	117	HP:0000568
MONDO:0009876	isolated growth hormone deficiency type IA	direct	3	OMIM:262400	11	2	0	0	1	9	HP:0002750	OMIM:262400	11	2	0	0	1	9	HP:0002750
MONDO:0009885	Scott syndrome	direct	2	OMIM:262890;ORPHA:806	10	0	1	0	1	10	HP:0011869	OMIM:262890;ORPHA:806	10	0	1	0	1	10	HP:0011869
MONDO:0009897	adult polyglucosan body disease	direct	23	OMIM:263570;ORPHA:206583	32	22	0	0	1	10	HP:0002019	OMIM:263570;ORPHA:206583	32	22	0	0	1	10	HP:0002019
MONDO:0009926	autosomal recessive multiple pterygium syndrome	direct	14	OMIM:265000;ORPHA:2990	106	10	2	1	1	96	HP:0001562	OMIM:265000;OMIM:618469;ORPHA:2990	109	10	2	1	1	99	HP:0001562
MONDO:0009928	pulmonary alveolar microlithiasis	direct	8	OMIM:265100;ORPHA:60025	48	7	0	0	1	41	HP:0001648	OMIM:265100;ORPHA:60025	48	7	0	0	1	41	HP:0001648
MONDO:0009949	pyruvate carboxylase deficiency disease	direct	12	OMIM:266150;ORPHA:3008	80	9	1	1	1	71	HP:0001298	OMIM:266150;ORPHA:3008	80	9	1	1	1	71	HP:0001298
MONDO:0010030	Sjogren syndrome	direct	30	OMIM:270150;ORPHA:289390	92	25	4	0	1	67	HP:0000670	OMIM:270150;ORPHA:289390	92	25	4	0	1	67	HP:0000670
MONDO:0010031	Sjogren-Larsson syndrome	direct	11	OMIM:270200;ORPHA:816	104	10	0	0	1	94	HP:0002352	OMIM:270200;ORPHA:816	104	10	0	0	1	94	HP:0002352
MONDO:0010088	mucosulfatidosis	direct	31	OMIM:272200;ORPHA:585	50	30	0	0	1	20	HP:0002415	OMIM:272200;ORPHA:585	50	30	0	0	1	20	HP:0002415
MONDO:0010134	Pendred syndrome	direct	7	OMIM:274600;ORPHA:705	21	4	2	0	1	17	HP:0008263	OMIM:274600;ORPHA:705	21	4	2	0	1	17	HP:0008263
MONDO:0010155	Dorfman-Chanarin disease	direct	7	OMIM:275630;ORPHA:98907	36	4	0	2	1	32	HP:0001744	OMIM:275630;ORPHA:98907	36	4	0	2	1	32	HP:0001744
MONDO:0010162	tyrosinemia type III	direct	7	OMIM:276710;ORPHA:69723	25	6	0	0	1	19	HP:0002119	OMIM:276710;ORPHA:69723	25	6	0	0	1	19	HP:0002119
MONDO:0010186	vitamin D-dependent rickets, type 2A	direct	9	OMIM:277440	47	6	0	2	1	41	HP:0002901	OMIM:277440	47	6	0	2	1	41	HP:0002901
MONDO:0010188	familial isolated deficiency of vitamin E	direct	18	OMIM:277460;ORPHA:96	48	14	2	1	1	34	HP:0000510	OMIM:277460;ORPHA:96	48	14	2	1	1	34	HP:0000510
MONDO:0010221	CHIME syndrome	direct	10	OMIM:280000;ORPHA:3474	116	6	0	3	1	110	HP:0011968	OMIM:280000;ORPHA:3474	116	6	0	3	1	110	HP:0011968
MONDO:0010311	Becker muscular dystrophy	direct	6	OMIM:300376;ORPHA:98895	24	2	3	0	1	22	HP:0032341	OMIM:159050;OMIM:300376;ORPHA:98895	26	2	3	0	1	24	HP:0032341
MONDO:0010333	corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome	direct	16	OMIM:300472;ORPHA:52055	37	15	0	0	1	22	HP:0000347	OMIM:300472;ORPHA:52055	37	15	0	0	1	22	HP:0000347
MONDO:0010395	phosphoribosylpyrophosphate synthetase superactivity	direct	12	OMIM:300661;ORPHA:3222	47	7	2	1	2	40	HP:0020074;HP:0033073	OMIM:300661;ORPHA:3222;ORPHA:411536;ORPHA:411543	55	10	1	0	1	45	HP:0033073
MONDO:0010477	blepharophimosis - intellectual disability syndrome, MKB type	direct	14	OMIM:300895;ORPHA:293707	61	11	0	2	1	50	HP:0001627	OMIM:300895;ORPHA:293707	61	11	0	2	1	50	HP:0001627
MONDO:0010493	Diamond-Blackfan anemia 14 with mandibulofacial dysostosis	direct	13	OMIM:300946	15	10	0	2	1	5	HP:0008609	OMIM:300946	15	10	0	2	1	5	HP:0008609
MONDO:0010515	Meester-Loeys syndrome	direct	8	OMIM:300989	34	5	1	1	1	29	HP:0002652	OMIM:300989	34	5	1	1	1	29	HP:0002652
MONDO:0010526	Fabry disease	direct	24	OMIM:301500;ORPHA:324	93	21	1	1	1	72	HP:0003115	OMIM:301500;ORPHA:324	93	21	1	1	1	72	HP:0003115
MONDO:0010533	Arts syndrome	direct	22	OMIM:301835;ORPHA:1187	45	19	1	1	1	26	HP:0000556	OMIM:301835;ORPHA:1187	45	19	1	1	1	26	HP:0000556
MONDO:0010535	Bazex-Dupre-Christol syndrome	direct	17	OMIM:301845;ORPHA:113;ORPHA:166113	45	16	0	0	1	29	HP:0031285	OMIM:301845;ORPHA:113;ORPHA:166113	45	16	0	0	1	29	HP:0031285
MONDO:0010563	blue cone monochromacy	direct	7	OMIM:303700;ORPHA:16	16	6	0	0	1	10	HP:0000608	OMIM:303700;ORPHA:16	16	6	0	0	1	10	HP:0000608
MONDO:0010568	Aicardi syndrome	direct	18	OMIM:304050;ORPHA:50	80	13	1	3	1	67	HP:0002015	OMIM:304050;ORPHA:50	80	13	1	3	1	67	HP:0002015
MONDO:0010580	immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome	direct	17	OMIM:304790;ORPHA:37042	79	16	0	0	1	63	HP:0000112	OMIM:304790;ORPHA:37042	79	16	0	0	1	63	HP:0000112
MONDO:0010602	hemophilia A	direct	7	OMIM:134500;OMIM:306700;ORPHA:98878	28	5	0	0	2	23	HP:0003040;HP:6000494	OMIM:134500;OMIM:306700;ORPHA:169802;ORPHA:169805;ORPHA:177926;ORPHA:98878	52	6	0	0	1	46	HP:6000494
MONDO:0010619	X-linked dominant hypophosphatemic rickets	direct	15	OMIM:307800;ORPHA:89936	71	10	2	2	1	61	HP:0002756	OMIM:307800;ORPHA:89936	71	10	2	2	1	61	HP:0002756
MONDO:0010631	incontinentia pigmenti	direct	14	OMIM:308300;ORPHA:464	70	10	3	0	1	60	HP:0001263	OMIM:308300;ORPHA:464	70	10	3	0	1	60	HP:0001263
MONDO:0010674	mucopolysaccharidosis type 2	direct	13	OMIM:309900;ORPHA:580	110	11	1	0	1	99	HP:0003416	OMIM:309900;ORPHA:580	110	11	1	0	1	99	HP:0003416
MONDO:0010702	orofaciodigital syndrome I	direct	21	OMIM:311200;ORPHA:2750	100	16	1	3	1	84	HP:0000729	OMIM:311200;ORPHA:2750	100	16	1	3	1	84	HP:0000729
MONDO:0010714	Pelizaeus-Merzbacher spectrum disorder	direct	17	OMIM:312080;ORPHA:702	69	12	3	1	1	57	HP:0002194	OMIM:312080;ORPHA:280210;ORPHA:280219;ORPHA:280224;ORPHA:280229;ORPHA:280234;ORPHA:702	126	13	3	1	0	113	
MONDO:0010820	autosomal recessive juvenile Parkinson disease 2	direct	8	OMIM:600116	28	4	3	0	1	24	HP:0100660	OMIM:600116	28	4	3	0	1	24	HP:0100660
MONDO:0010826	childhood absence epilepsy	direct	6	ORPHA:64280	21	4	0	1	1	17	HP:0011972	OMIM:607681;ORPHA:64280	27	4	0	1	1	23	HP:0011972
MONDO:0010857	semantic dementia	direct	4	OMIM:600274;ORPHA:100069	29	2	0	1	1	27	HP:0010528	OMIM:600274;ORPHA:100069	29	2	0	1	1	27	HP:0010528
MONDO:0010931	vitamin D-dependent rickets, type 2B	direct	5	OMIM:600785	21	3	0	1	1	18	HP:0002901	OMIM:600785	21	3	0	1	1	18	HP:0002901
MONDO:0010977	Brody myopathy	direct	5	OMIM:601003	19	4	0	0	1	15	HP:0003236	OMIM:601003	19	4	0	0	1	15	HP:0003236
MONDO:0011003	dilated cardiomyopathy 1E	direct	4	OMIM:601154	18	2	0	1	1	16	HP:0001635	OMIM:601154	18	2	0	1	1	16	HP:0001635
MONDO:0011093	mucopolysaccharidosis type 9	direct	2	OMIM:601492;ORPHA:67041	22	1	0	0	1	21	HP:0001386	OMIM:601492;ORPHA:67041	22	1	0	0	1	21	HP:0001386
MONDO:0011150	acroosteolysis-keloid-like lesions-premature aging syndrome	direct	4	OMIM:601812	63	3	0	0	1	60	HP:0001376	OMIM:601812	63	3	0	0	1	60	HP:0001376
MONDO:0011177	ectodermal dysplasia 4, hair/nail type	direct	4	OMIM:602032	16	2	0	1	1	14	HP:0002209	OMIM:602032	16	2	0	1	1	14	HP:0002209
MONDO:0011208	malignant atrophic papulosis	direct	6	OMIM:602248;ORPHA:679	38	4	0	1	1	34	HP:0033404	OMIM:602248;ORPHA:679	38	4	0	1	1	34	HP:0033404
MONDO:0011211	axial spondylometaphyseal dysplasia	direct	17	OMIM:602271;ORPHA:168549	62	13	3	0	1	49	HP:0100255	OMIM:602271;ORPHA:168549	62	13	3	0	1	49	HP:0100255
MONDO:0011229	ethylmalonic encephalopathy	direct	10	OMIM:602473;ORPHA:51188	31	8	0	1	1	23	HP:0001257	OMIM:602473;ORPHA:51188	31	8	0	1	1	23	HP:0001257
MONDO:0011273	H syndrome	direct	19	OMIM:602782;ORPHA:168569	84	16	0	2	1	68	HP:0001369	OMIM:602782;ORPHA:168569	84	16	0	2	1	68	HP:0001369
MONDO:0011342	SLC35A1-congenital disorder of glycosylation	direct	12	OMIM:603585;ORPHA:238459	39	9	0	2	1	30	HP:0012301	OMIM:603585;ORPHA:238459	39	9	0	2	1	30	HP:0012301
MONDO:0011382	sickle cell disease	direct	21	OMIM:603903;ORPHA:232	49	20	0	0	1	29	HP:0002098	OMIM:603903;ORPHA:232	49	20	0	0	1	29	HP:0002098
MONDO:0011400	dilated cardiomyopathy 1G	direct	3	OMIM:604145	9	2	0	0	1	7	HP:0004308	OMIM:604145	9	2	0	0	1	7	HP:0004308
MONDO:0011445	hereditary spastic paraplegia 11	direct	12	OMIM:604360;ORPHA:2822	79	7	1	3	1	72	HP:0002200	OMIM:604360;ORPHA:2822	79	7	1	3	1	72	HP:0002200
MONDO:0011451	cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1	direct	7	OMIM:604377	130	4	1	1	1	126	HP:0007269	OMIM:604377	130	4	1	1	1	126	HP:0007269
MONDO:0011568	autosomal dominant nonsyndromic hearing loss 25	direct	3	OMIM:605583	4	0	2	0	1	4	HP:6000182	OMIM:605583	4	0	2	0	1	4	HP:6000182
MONDO:0011588	platelet-type bleeding disorder 12	direct	5	OMIM:605735	8	4	0	0	1	4	HP:0004846	OMIM:605735	8	4	0	0	1	4	HP:0004846
MONDO:0011612	glycine encephalopathy	direct	12	ORPHA:407	13	5	0	2	5	8	HP:0001249;HP:0001263;HP:0002104;HP:0002643;HP:0007018	OMIM:605899;OMIM:617301;OMIM:620398;OMIM:620423;ORPHA:407	97	8	1	2	1	89	HP:0002643
MONDO:0011633	Charcot-Marie-Tooth disease axonal type 2C	direct	7	OMIM:606071	35	4	0	2	1	31	HP:0034392	OMIM:606071	35	4	0	2	1	31	HP:0034392
MONDO:0011652	Phelan-McDermid syndrome	direct	9	OMIM:606232;ORPHA:48652	93	7	1	0	1	86	HP:0002376	OMIM:606232;ORPHA:48652	93	7	1	0	1	86	HP:0002376
MONDO:0011706	Kufor-Rakeb syndrome	direct	6	OMIM:606693;ORPHA:306674	71	1	3	1	1	70	HP:0000317	OMIM:606693;ORPHA:306674;ORPHA:314632	78	2	2	1	1	76	HP:0000317
MONDO:0011724	encephalopathy due to GLUT1 deficiency	direct	9	OMIM:606777;ORPHA:71277	52	8	0	0	1	44	HP:0007166	OMIM:606777;ORPHA:71277	52	8	0	0	1	44	HP:0007166
MONDO:0011740	Carney-Stratakis syndrome	direct	4	OMIM:606864;ORPHA:97286	11	3	0	0	1	8	HP:0000822	OMIM:606864;ORPHA:97286	11	3	0	0	1	8	HP:0000822
MONDO:0011781	spinocerebellar ataxia type 17	direct	10	OMIM:607136;ORPHA:98759	52	8	0	1	1	44	HP:0000709	OMIM:607136;ORPHA:98759	52	8	0	1	1	44	HP:0000709
MONDO:0011872	Griscelli syndrome type 2	direct	8	OMIM:607624;ORPHA:79477	31	6	0	1	1	25	HP:0001298	OMIM:607624;ORPHA:79477	31	6	0	1	1	25	HP:0001298
MONDO:0011895	idiopathic hypereosinophilic syndrome	direct	17	OMIM:607685;ORPHA:3260	85	12	1	3	1	73	HP:0001685	OMIM:607685;ORPHA:3260;ORPHA:724	90	12	1	3	1	78	HP:0001685
MONDO:0011897	leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism	direct	13	OMIM:607694	38	11	0	0	2	27	HP:0000684;HP:0100543	OMIM:607694;ORPHA:447896	54	12	0	0	1	42	HP:0100543
MONDO:0011899	Noonan syndrome-like disorder with loose anagen hair	direct	13	ORPHA:2701	29	4	0	1	8	25	HP:0000256;HP:0000824;HP:0000953;HP:0001263;HP:0002217;HP:0007018;HP:0007099;HP:0040169	OMIM:607721;OMIM:617506;ORPHA:2701	129	12	0	0	1	117	HP:0000824
MONDO:0011929	chromosome 1p36 deletion syndrome	direct	13	OMIM:607872;ORPHA:1606	156	9	2	1	1	147	HP:0001999	OMIM:607872;ORPHA:1606	156	9	2	1	1	147	HP:0001999
MONDO:0011934	dermatofibrosarcoma protuberans	direct	2	ORPHA:31112	8	0	0	1	1	8	HP:0031459	ORPHA:31112	8	0	0	1	1	8	HP:0031459
MONDO:0011959	sweet syndrome	direct	11	OMIM:608068;ORPHA:3243	44	6	3	1	1	38	HP:0033834	OMIM:608068;ORPHA:3243	44	6	3	1	1	38	HP:0033834
MONDO:0011988	neutrophil immunodeficiency syndrome	direct	4	OMIM:608203;ORPHA:183707	15	3	0	0	1	12	HP:0002718	OMIM:608203;ORPHA:183707	15	3	0	0	1	12	HP:0002718
MONDO:0011989	leishmaniasis	direct	6	ORPHA:507	25	3	1	1	1	22	HP:0033361	ORPHA:507	25	3	1	1	1	22	HP:0033361
MONDO:0011996	chronic myelogenous leukemia, BCR-ABL1 positive	direct	7	OMIM:608232;ORPHA:521	15	4	2	0	1	11	HP:0002240	OMIM:600080;OMIM:608232;ORPHA:521	16	4	2	0	1	12	HP:0002240
MONDO:0012016	capillary malformation-arteriovenous malformation syndrome	direct	6	ORPHA:137667	29	5	0	0	1	24	HP:0001010	OMIM:608354;OMIM:618196;ORPHA:137667	33	5	0	0	1	28	HP:0001010
MONDO:0012041	familial adenomatous polyposis 2	direct	4	OMIM:608456;ORPHA:247798	8	2	0	1	1	6	HP:0004783	OMIM:608456;ORPHA:247798	8	2	0	1	1	6	HP:0004783
MONDO:0012052	ALG1-congenital disorder of glycosylation	direct	17	OMIM:608540;ORPHA:79327	53	15	1	0	1	38	HP:0000407	OMIM:608540;ORPHA:79327	53	15	1	0	1	38	HP:0000407
MONDO:0012064	choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome	direct	18	OMIM:608572;ORPHA:1200	38	14	2	1	1	24	HP:0001249	OMIM:608572;ORPHA:1200	38	14	2	1	1	24	HP:0001249
MONDO:0012110	growth delay due to insulin-like growth factor type 1 deficiency	direct	8	OMIM:608747;ORPHA:73272	48	7	0	0	1	41	HP:0001263	OMIM:608747;ORPHA:73272	48	7	0	0	1	41	HP:0001263
MONDO:0012164	Meacham syndrome	direct	7	OMIM:608978;ORPHA:3097	51	3	0	3	1	48	HP:0008723	OMIM:608978;ORPHA:3097	51	3	0	3	1	48	HP:0008723
MONDO:0012172	mitochondrial trifunctional protein deficiency	direct	13	ORPHA:746	46	9	1	1	2	37	HP:0001699;HP:0003128	OMIM:609015;OMIM:620300;ORPHA:746	81	10	1	1	1	71	HP:0001699
MONDO:0012176	Emanuel syndrome	direct	15	OMIM:609029;ORPHA:96170	94	11	1	2	1	83	HP:0000504	OMIM:609029;ORPHA:96170	94	11	1	2	1	83	HP:0000504
MONDO:0012198	PCWH syndrome	direct	7	OMIM:609136;ORPHA:163746	74	5	0	1	1	69	HP:0007730	OMIM:609136;ORPHA:163746	74	5	0	1	1	69	HP:0007730
MONDO:0012391	neuronal ceroid lipofuscinosis 8 northern epilepsy variant	direct	5	OMIM:610003;ORPHA:1947	48	4	0	0	1	44	HP:0034332	OMIM:610003;ORPHA:1947	48	4	0	0	1	44	HP:0034332
MONDO:0012392	2-methylbutyryl-CoA dehydrogenase deficiency	direct	11	OMIM:610006;ORPHA:79157	19	7	0	3	1	12	HP:0001942	OMIM:610006;ORPHA:79157	19	7	0	3	1	12	HP:0001942
MONDO:0012407	pyridoxal phosphate-responsive seizures	direct	7	OMIM:610090;ORPHA:79096	35	2	3	1	1	33	HP:0001332	OMIM:610090;ORPHA:79096	35	2	3	1	1	33	HP:0001332
MONDO:0012455	Kleefstra syndrome	direct	15	ORPHA:261494	67	12	0	2	1	55	HP:0012368	OMIM:610253;OMIM:617768;ORPHA:261494;ORPHA:261652;ORPHA:96147	169	15	0	0	0	154	
MONDO:0012545	neutral lipid storage myopathy	direct	6	OMIM:610717;ORPHA:98908	50	5	0	0	1	45	HP:0003484	OMIM:610717;ORPHA:98908	50	5	0	0	1	45	HP:0003484
MONDO:0012592	osteogenesis imperfecta type 11	direct	7	OMIM:610968	22	4	0	2	1	18	HP:0002803	OMIM:610968	22	4	0	2	1	18	HP:0002803
MONDO:0012650	Cernunnos-XLF deficiency	direct	8	OMIM:611291;ORPHA:169079	76	6	1	0	1	70	HP:0011133	OMIM:611291;ORPHA:169079	76	6	1	0	1	70	HP:0011133
MONDO:0012756	proximal 16p11.2 microdeletion syndrome	direct	7	OMIM:611913;ORPHA:261197	54	6	0	0	1	48	HP:0002311	OMIM:611913;ORPHA:261197	54	6	0	0	1	48	HP:0002311
MONDO:0012799	hypertrophic cardiomyopathy 11	direct	4	OMIM:612098	23	2	1	0	1	21	HP:0025168	OMIM:612098	23	2	1	0	1	21	HP:0025168
MONDO:0012803	diarrhea-vomiting due to trehalase deficiency	direct	5	OMIM:612119;ORPHA:103909	7	4	0	0	1	3	HP:0033589	OMIM:612119;ORPHA:103909	7	4	0	0	1	3	HP:0033589
MONDO:0012868	thrombophilia due to protein S deficiency, autosomal dominant	direct	6	OMIM:612336	9	5	0	0	1	4	HP:0002625	OMIM:612336	9	5	0	0	1	4	HP:0002625
MONDO:0012976	autosomal dominant nonsyndromic hearing loss 2B	direct	2	OMIM:612644	2	1	0	0	1	1	HP:0008619	OMIM:612644	2	1	0	0	1	1	HP:0008619
MONDO:0012992	pancreatic insufficiency-anemia-hyperostosis syndrome	direct	6	OMIM:612714	19	2	0	3	1	17	HP:0012130	OMIM:612714	19	2	0	3	1	17	HP:0012130
MONDO:0012996	AGAT deficiency	direct	18	OMIM:612718;ORPHA:35704	29	17	0	0	1	12	HP:0002059	OMIM:612718;ORPHA:35704	29	17	0	0	1	12	HP:0002059
MONDO:0012999	guanidinoacetate methyltransferase deficiency	direct	16	OMIM:612736;ORPHA:382	45	14	1	0	1	31	HP:0002453	OMIM:612736;ORPHA:382	45	14	1	0	1	31	HP:0002453
MONDO:0013005	EAST syndrome	direct	9	OMIM:612780;ORPHA:199343	41	7	0	1	1	34	HP:0000512	OMIM:612780;ORPHA:199343	41	7	0	1	1	34	HP:0000512
MONDO:0013046	glycogen storage disease due to muscle beta-enolase deficiency	direct	6	OMIM:612932;ORPHA:99849	10	2	1	2	1	8	HP:0003710	OMIM:612932;ORPHA:99849	10	2	1	2	1	8	HP:0003710
MONDO:0013047	glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	direct	7	OMIM:612933;ORPHA:284426	36	6	0	0	1	30	HP:0003765	OMIM:612933;ORPHA:284426	36	6	0	0	1	30	HP:0003765
MONDO:0013058	cystic leukoencephalopathy without megalencephaly	direct	8	OMIM:612951	21	7	0	0	1	14	HP:0002059	OMIM:612951	21	7	0	0	1	14	HP:0002059
MONDO:0013060	autosomal recessive Parkinson disease 14	direct	33	OMIM:612953;ORPHA:199351	57	32	0	0	1	25	HP:0000012	OMIM:612953;ORPHA:199351	57	32	0	0	1	25	HP:0000012
MONDO:0013074	encephalocraniocutaneous lipomatosis	direct	6	OMIM:613001;ORPHA:2396	83	4	1	0	1	79	HP:0010816	OMIM:613001;ORPHA:2396	83	4	1	0	1	79	HP:0010816
MONDO:0013153	inflammatory bowel disease 28	direct	4	OMIM:613148	10	2	0	1	1	8	HP:0010447	OMIM:613148	10	2	0	1	1	8	HP:0010447
MONDO:0013168	dilated cardiomyopathy 1DD	direct	3	OMIM:613172	6	2	0	0	1	4	HP:0004308	OMIM:613172	6	2	0	0	1	4	HP:0004308
MONDO:0013179	hereditary spastic paraplegia 44	direct	4	OMIM:613206;ORPHA:320401	34	3	0	0	1	31	HP:0001300	OMIM:613206;ORPHA:320401	34	3	0	0	1	31	HP:0001300
MONDO:0013189	trichotillomania	direct	3	OMIM:613229	5	2	0	0	1	3	HP:0011856	OMIM:613229	5	2	0	0	1	3	HP:0011856
MONDO:0013195	hypertrophic cardiomyopathy 13	direct	3	OMIM:613243	18	2	0	0	1	16	HP:0001645	OMIM:613243	18	2	0	0	1	16	HP:0001645
MONDO:0013200	hypertrophic cardiomyopathy 15	direct	4	OMIM:613255	13	3	0	0	1	10	HP:0001712	OMIM:613255	13	3	0	0	1	10	HP:0001712
MONDO:0013202	Waardenburg syndrome type 4C	direct	3	OMIM:613266	14	2	0	0	1	12	HP:0009830	OMIM:613266	14	2	0	0	1	12	HP:0009830
MONDO:0013276	Reynolds syndrome	direct	10	OMIM:613471;ORPHA:779	48	7	1	1	1	41	HP:0006530	OMIM:613471;ORPHA:779	48	7	1	1	1	41	HP:0006530
MONDO:0013277	developmental and epileptic encephalopathy, 5	direct	9	OMIM:613477	21	5	2	1	1	16	HP:0000505	OMIM:613477	21	5	2	1	1	16	HP:0000505
MONDO:0013282	alpha 1-antitrypsin deficiency	direct	9	OMIM:613490;ORPHA:60	32	8	0	0	1	24	HP:0002633	OMIM:613490;ORPHA:60	32	8	0	0	1	24	HP:0002633
MONDO:0013301	aromatase deficiency	direct	25	OMIM:613546;ORPHA:91	29	23	1	0	1	6	HP:0008665	OMIM:613546;ORPHA:91	29	23	1	0	1	6	HP:0008665
MONDO:0013342	hereditary spastic paraplegia 48	direct	6	OMIM:613647;ORPHA:306511	32	5	0	0	1	27	HP:0002127	OMIM:613647;ORPHA:306511	32	5	0	0	1	27	HP:0002127
MONDO:0013351	infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	direct	6	OMIM:613668	18	3	1	1	1	15	HP:0001272	OMIM:613668	18	3	1	1	1	15	HP:0001272
MONDO:0013424	3p- syndrome	direct	23	OMIM:613792;ORPHA:1620	71	18	1	3	1	53	HP:0000729	OMIM:613792;ORPHA:1620	71	18	1	3	1	53	HP:0000729
MONDO:0013459	osteogenesis imperfecta type 10	direct	6	OMIM:613848	45	3	0	2	1	42	HP:0002757	OMIM:613848	45	3	0	2	1	42	HP:0002757
MONDO:0013511	cyanosis, transient neonatal	direct	4	OMIM:613977	8	3	0	0	1	5	HP:0012418	OMIM:613977	8	3	0	0	1	5	HP:0012418
MONDO:0013561	chondrodysplasia with joint dislocations, gPAPP type	direct	6	OMIM:614078	31	4	0	1	1	27	HP:0012095	OMIM:614078	31	4	0	1	1	27	HP:0012095
MONDO:0013571	acatalasia	direct	7	OMIM:614097;ORPHA:926	18	5	0	1	1	13	HP:0012119	OMIM:614097;ORPHA:926	18	5	0	1	1	13	HP:0012119
MONDO:0013802	infantile cerebellar-retinal degeneration	direct	13	OMIM:614559	25	5	3	4	1	20	HP:0001344	OMIM:614559	25	5	3	4	1	20	HP:0001344
MONDO:0013880	facial paresis, hereditary congenital, 3	direct	6	OMIM:614744	30	4	0	1	1	26	HP:0001611	OMIM:614744	30	4	0	1	1	26	HP:0001611
MONDO:0013884	neuronopathy, distal hereditary motor, type 5B	direct	7	OMIM:614751	10	6	0	0	1	4	HP:0007002	OMIM:614751	10	6	0	0	1	4	HP:0007002
MONDO:0013936	peroxisome biogenesis disorder 6A (Zellweger)	direct	7	OMIM:614870	17	3	2	1	1	14	HP:0002126	OMIM:614870	17	3	2	1	1	14	HP:0002126
MONDO:0013957	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency	direct	6	OMIM:614893;ORPHA:319600	10	4	1	0	1	6	HP:0020178	OMIM:614893;ORPHA:319600	10	4	1	0	1	6	HP:0020178
MONDO:0013963	autosomal recessive nonsyndromic hearing loss 93	direct	7	OMIM:614899	3	0	6	0	1	3	HP:0006958	OMIM:614899	3	0	6	0	1	3	HP:0006958
MONDO:0013970	branched-chain keto acid dehydrogenase kinase deficiency	direct	15	OMIM:614923	52	14	0	0	1	38	HP:0200134	OMIM:614923	52	14	0	0	1	38	HP:0200134
MONDO:0013975	ectodermal dysplasia 7, hair/nail type	direct	4	OMIM:614929	13	2	0	1	1	11	HP:0001792	OMIM:614929	13	2	0	1	1	11	HP:0001792
MONDO:0014060	progressive retinal dystrophy due to retinol transport defect	direct	7	OMIM:615147	15	5	0	1	1	10	HP:0000567	OMIM:615147	15	5	0	1	1	10	HP:0000567
MONDO:0014078	platelet-type bleeding disorder 15	direct	7	OMIM:615193	7	3	2	1	1	4	HP:0001654	OMIM:615193	7	3	2	1	1	4	HP:0001654
MONDO:0014087	Smith-McCort dysplasia 2	direct	2	OMIM:615222	29	1	0	0	1	28	HP:0002652	OMIM:615222	29	1	0	0	1	28	HP:0002652
MONDO:0014196	Hartsfield-Bixler-Demyer syndrome	direct	7	OMIM:615465;ORPHA:2117	41	3	0	3	1	38	HP:0000044	OMIM:615465;ORPHA:2117	41	3	0	3	1	38	HP:0000044
MONDO:0014221	triosephosphate isomerase deficiency	direct	11	OMIM:615512;ORPHA:868	42	8	1	1	1	34	HP:0002344	OMIM:615512;ORPHA:868	42	8	1	1	1	34	HP:0002344
MONDO:0014243	Schaaf-Yang syndrome	direct	25	OMIM:615547;ORPHA:398069	109	19	3	2	1	90	HP:0002643	OMIM:615547;ORPHA:398069	109	19	3	2	1	90	HP:0002643
MONDO:0014320	Bosch-Boonstra-Schaaf optic atrophy syndrome	direct	18	OMIM:615722;ORPHA:401777	52	15	0	2	1	37	HP:0000522	OMIM:615722;ORPHA:401777	52	15	0	2	1	37	HP:0000522
MONDO:0014375	congenital diarrhea 7 with exudative enteropathy	direct	7	OMIM:615863	11	5	1	0	1	6	HP:0004313	OMIM:615863	11	5	1	0	1	6	HP:0004313
MONDO:0014377	developmental and epileptic encephalopathy, 24	direct	7	OMIM:615871	16	4	1	1	1	12	HP:0001263	OMIM:615871	16	4	1	1	1	12	HP:0001263
MONDO:0014379	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	direct	23	OMIM:615873;ORPHA:404448	168	16	0	6	1	152	HP:0000365	OMIM:615873;ORPHA:404448	168	16	0	6	1	152	HP:0000365
MONDO:0014455	cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome	direct	12	OMIM:616007;ORPHA:436174	78	9	0	2	1	69	HP:0007957	OMIM:616007;ORPHA:436174	78	9	0	2	1	69	HP:0007957
MONDO:0014572	Lichtenstein-Knorr syndrome	direct	6	OMIM:616291	21	5	0	0	1	16	HP:0001250	OMIM:616291	21	5	0	0	1	16	HP:0001250
MONDO:0014632	leukodystrophy, hypomyelinating, 10	direct	23	OMIM:616420;ORPHA:481152	78	18	4	0	1	60	HP:0002080	OMIM:616420;ORPHA:481152	78	18	4	0	1	60	HP:0002080
MONDO:0014698	microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	direct	20	OMIM:616577;ORPHA:457351	66	15	2	2	1	51	HP:0002151	OMIM:616577;ORPHA:457351	66	15	2	2	1	51	HP:0002151
MONDO:0014708	ring chromosome 14	direct	27	OMIM:616606;ORPHA:1440	46	22	4	0	1	24	HP:0011968	OMIM:616606;ORPHA:1440	46	22	4	0	1	24	HP:0011968
MONDO:0014731	seizures-scoliosis-macrocephaly syndrome	direct	17	OMIM:616682;ORPHA:466926	60	12	3	1	1	48	HP:0002376	OMIM:616682;ORPHA:466926	60	12	3	1	1	48	HP:0002376
MONDO:0014743	rhizomelic chondrodysplasia punctata type 5	direct	7	OMIM:616716	32	4	1	1	1	28	HP:0010655	OMIM:616716	32	4	1	1	1	28	HP:0010655
MONDO:0014789	CCDC115-CDG	direct	14	OMIM:616828	25	8	1	4	1	17	HP:0001397	OMIM:616828	25	8	1	4	1	17	HP:0001397
MONDO:0014803	spasticity-ataxia-gait anomalies syndrome	direct	6	OMIM:616859;ORPHA:401866	37	3	2	0	1	34	HP:0001332	OMIM:616859;ORPHA:401866	37	3	2	0	1	34	HP:0001332
MONDO:0014819	autosomal dominant Robinow syndrome 3	direct	5	OMIM:616894	53	3	0	1	1	50	HP:0000678	OMIM:616894	53	3	0	1	1	50	HP:0000678
MONDO:0014918	tall stature-intellectual disability-renal anomalies syndrome	direct	6	OMIM:617107;ORPHA:500095	58	3	1	1	1	55	HP:0000085	OMIM:617107;ORPHA:500095	58	3	1	1	1	55	HP:0000085
MONDO:0014936	ZTTK syndrome	direct	23	OMIM:617140;ORPHA:500150	140	10	3	9	1	130	HP:0000508	OMIM:617140;ORPHA:500150	140	10	3	9	1	130	HP:0000508
MONDO:0014969	isolated sedoheptulokinase deficiency	direct	2	OMIM:617213;ORPHA:440713	30	1	0	0	1	29	HP:0034613	OMIM:617213;ORPHA:440713	30	1	0	0	1	29	HP:0034613
MONDO:0015003	dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities	direct	9	OMIM:617282;ORPHA:508093	50	7	0	1	1	43	HP:0000544	OMIM:617282;ORPHA:508093	50	7	0	1	1	43	HP:0000544
MONDO:0015229	Bardet-Biedl syndrome	direct	19	ORPHA:110	95	15	3	0	1	80	HP:0000529	OMIM:209900;OMIM:600151;OMIM:605231;OMIM:615981;OMIM:615982;OMIM:615983;OMIM:615984;OMIM:615985;OMIM:615986;OMIM:615987;OMIM:615988;OMIM:615989;OMIM:615990;OMIM:615991;OMIM:615992;OMIM:615993;OMIM:615994;OMIM:615995;OMIM:615996;OMIM:617119;OMIM:617406;OMIM:619471;ORPHA:110	223	18	1	0	0	205	
MONDO:0015231	Bartter syndrome	direct	19	ORPHA:112	2	1	6	0	12	1	HP:0000103;HP:0000121;HP:0000407;HP:0000848;HP:0001324;HP:0001508;HP:0001561;HP:0001622;HP:0001959;HP:0004308;HP:0011741;HP:0012622	OMIM:241200;OMIM:300971;OMIM:601678;OMIM:602522;OMIM:607364;OMIM:613090;ORPHA:112;ORPHA:89938	94	17	1	0	1	77	HP:0004308
MONDO:0015277	medullary thyroid gland carcinoma	direct	7	ORPHA:1332	14	4	0	2	1	10	HP:0031284	OMIM:155240;ORPHA:1332	15	4	0	2	1	11	HP:0031284
MONDO:0015285	Carney complex	direct	6	ORPHA:1359	64	4	1	0	1	60	HP:0025388	OMIM:160980;OMIM:608837;ORPHA:1359	91	4	1	0	1	87	HP:0025388
MONDO:0015452	Coffin-Siris syndrome	direct	20	ORPHA:1465	65	10	3	3	4	55	HP:0000238;HP:0000568;HP:0001263;HP:0006482	OMIM:135900;OMIM:614607;OMIM:614608;OMIM:614609;OMIM:615866;OMIM:616938;OMIM:618027;OMIM:618362;OMIM:618506;OMIM:618779;OMIM:619325;ORPHA:1465	264	16	1	2	1	248	HP:0000568
MONDO:0015722	congenital vitamin K-dependent coagulation factors deficiency	direct	26	ORPHA:98434	31	24	0	1	1	7	HP:0001643	OMIM:227500;OMIM:227600;OMIM:277450;OMIM:607473;OMIM:613679;ORPHA:325;ORPHA:327;ORPHA:328;ORPHA:98434	58	24	0	1	1	34	HP:0001643
MONDO:0015762	progressive familial intrahepatic cholestasis	direct	21	ORPHA:172	14	5	4	0	12	9	HP:0000407;HP:0000989;HP:0001081;HP:0001394;HP:0001399;HP:0001409;HP:0001738;HP:0002028;HP:0002908;HP:0006254;HP:0012202;HP:0030948	OMIM:211600;OMIM:243300;OMIM:601847;OMIM:602347;OMIM:604901;OMIM:615878;OMIM:617049;OMIM:619484;OMIM:619658;OMIM:619662;OMIM:619849;OMIM:619868;OMIM:619874;OMIM:620010;OMIM:620962;ORPHA:172	111	18	2	0	1	93	HP:0001738
MONDO:0015779	45,X/46,XY mixed gonadal dysgenesis	direct	16	ORPHA:1772	60	7	7	1	1	53	HP:0008733	ORPHA:1772	60	7	7	1	1	53	HP:0008733
MONDO:0015780	dyskeratosis congenita	direct	12	ORPHA:1775	62	3	2	1	6	59	HP:0001321;HP:0001405;HP:0001915;HP:0002206;HP:0007427;HP:0030490	OMIM:127550;OMIM:224230;OMIM:268130;OMIM:305000;OMIM:613987;OMIM:613988;OMIM:613989;OMIM:613990;OMIM:615190;OMIM:616353;OMIM:616373;OMIM:616553;OMIM:620040;OMIM:620133;ORPHA:1775;ORPHA:3088;ORPHA:3322	199	10	1	0	1	189	HP:0030490
MONDO:0016006	Cockayne syndrome	direct	36	ORPHA:191	118	22	3	4	7	96	HP:0000347;HP:0001324;HP:0001508;HP:0002828;HP:0005328;HP:0006808;HP:0011096	OMIM:133540;OMIM:216400;ORPHA:191;ORPHA:90321;ORPHA:90322;ORPHA:90324	232	28	6	1	1	204	HP:0000347
MONDO:0016019	Rasmussen subacute encephalitis	direct	5	ORPHA:1929	48	4	0	0	1	44	HP:0002448	ORPHA:1929	48	4	0	0	1	44	HP:0002448
MONDO:0016044	cleft lip/palate	direct	7	ORPHA:199306	21	4	0	2	1	17	HP:0410030	OMIM:600625;OMIM:608874;OMIM:613705;OMIM:616788;ORPHA:199306	47	5	0	2	0	42	
MONDO:0016063	Cowden disease	direct	13	ORPHA:201	57	8	4	0	1	49	HP:0100026	OMIM:158350;OMIM:615107;OMIM:615108;OMIM:615109;OMIM:616858;ORPHA:201	100	11	2	0	0	89	
MONDO:0016086	osteochondritis of tarsal/metatarsal bone	direct	5	ORPHA:563991	13	2	0	2	1	11	HP:6000840	ORPHA:563991	13	2	0	2	1	11	HP:6000840
MONDO:0016238	solitary fibrous tumor	direct	3	ORPHA:2126	29	2	0	0	1	27	HP:0002094	OMIM:234820;ORPHA:2126	31	2	0	0	1	29	HP:0002094
MONDO:0016239	cystinosis	direct	57	ORPHA:213	56	56	0	0	1	0	HP:0002015	OMIM:219750;OMIM:219800;OMIM:219900;ORPHA:213;ORPHA:411629;ORPHA:411634;ORPHA:411641	129	57	0	0	0	72	
MONDO:0016471	pachyonychia congenita	direct	10	ORPHA:2309	27	7	2	0	1	20	HP:0012542	OMIM:167200;OMIM:167210;OMIM:615726;OMIM:615728;ORPHA:2309	41	7	3	0	0	34	
MONDO:0016512	Kabuki syndrome	direct	28	ORPHA:2322	92	25	1	1	1	67	HP:0002960	OMIM:147920;OMIM:300867;ORPHA:2322	241	27	0	1	0	214	
MONDO:0016532	Lennox-Gastaut syndrome	direct	10	ORPHA:2382	25	6	2	1	1	19	HP:0031475	OMIM:615369;OMIM:616346;OMIM:617113;ORPHA:2382	57	10	0	0	0	47	
MONDO:0016535	hypohidrotic ectodermal dysplasia	direct	15	ORPHA:238468	44	5	6	1	3	39	HP:0002007;HP:0002164;HP:0031416	OMIM:129490;OMIM:224900;OMIM:300291;OMIM:305100;OMIM:612132;OMIM:614940;OMIM:614941;ORPHA:181;ORPHA:1810;ORPHA:238468;ORPHA:248;ORPHA:98813	173	12	1	1	1	161	HP:0031416
MONDO:0016543	hyperphenylalaninemia due to tetrahydrobiopterin deficiency	direct	11	ORPHA:238583	24	6	2	0	3	18	HP:0000870;HP:0001249;HP:0002066	OMIM:233910;OMIM:261630;OMIM:261640;OMIM:264070;ORPHA:13;ORPHA:1578;ORPHA:226;ORPHA:238583	74	9	1	0	1	65	HP:0000870
MONDO:0016558	familial congenital mirror movements	direct	3	ORPHA:238722	14	2	0	0	1	12	HP:0001263	OMIM:157600;OMIM:614508;OMIM:616059;OMIM:618264;ORPHA:238722	20	2	0	0	1	18	HP:0001263
MONDO:0016576	split hand-foot malformation	direct	7	ORPHA:2440	8	4	0	2	1	4	HP:0010442	OMIM:183600;OMIM:225300;OMIM:246560;OMIM:313350;OMIM:605289;ORPHA:1307;ORPHA:2440	62	6	0	0	1	56	HP:0010442
MONDO:0016580	congenital pulmonary airway malformation	direct	6	ORPHA:2444	5	0	5	0	1	5	HP:0001789	ORPHA:2444	5	0	5	0	1	5	HP:0001789
MONDO:0016596	hyperphosphatasia-intellectual disability syndrome	direct	18	ORPHA:247262	62	6	2	4	6	56	HP:0000407;HP:0000750;HP:0001272;HP:0001273;HP:0001627;HP:0002059	OMIM:239300;OMIM:614207;OMIM:614749;OMIM:615716;OMIM:616025;OMIM:616809;ORPHA:247262	169	13	1	3	1	156	HP:0001272
MONDO:0016649	Warburg micro syndrome	direct	14	ORPHA:2510	42	10	1	1	2	32	HP:0000044;HP:0002126	OMIM:600118;OMIM:614222;OMIM:614225;OMIM:615663;ORPHA:2510	120	13	0	0	1	107	HP:0000044
MONDO:0016830	Emery-Dreifuss muscular dystrophy	direct	16	ORPHA:261	43	7	2	5	2	36	HP:0001907;HP:0011727	OMIM:181350;OMIM:300695;OMIM:300696;OMIM:310300;OMIM:608358;OMIM:612998;OMIM:612999;OMIM:614302;OMIM:616516;ORPHA:261;ORPHA:98853;ORPHA:98855;ORPHA:98863	139	14	1	0	1	125	HP:0001907
MONDO:0017042	thanatophoric dysplasia	direct	10	ORPHA:2655	41	8	0	1	1	33	HP:0000773	OMIM:156830;OMIM:187600;OMIM:187601;OMIM:273680;ORPHA:1860;ORPHA:2655;ORPHA:93274	90	9	0	1	0	81	
MONDO:0017138	Opitz G/BBB syndrome	direct	11	ORPHA:2745	75	9	0	1	1	66	HP:0025678	OMIM:300000;ORPHA:2745	96	9	0	1	1	87	HP:0025678
MONDO:0017287	immunoglobulin G4-related sclerosing disease	direct	12	ORPHA:596448	18	3	1	1	7	15	HP:0000083;HP:0000093;HP:0000126;HP:0000952;HP:0002088;HP:0002716;HP:6001461	ORPHA:449395;ORPHA:449400;ORPHA:449427;ORPHA:449432;ORPHA:449563;ORPHA:49041;ORPHA:596448;ORPHA:64744;ORPHA:79078	194	10	1	0	1	184	HP:0000952
MONDO:0017314	Ehlers-Danlos syndrome, vascular type	direct	11	ORPHA:286	47	9	0	1	1	38	HP:0025019	OMIM:130050;ORPHA:286	83	10	0	1	0	73	
MONDO:0017385	malignant migrating partial seizures of infancy	direct	8	ORPHA:293181	25	1	3	0	4	24	HP:0002104;HP:0002133;HP:0032786;HP:0200134	OMIM:613722;OMIM:615338;OMIM:616645;ORPHA:293181	52	5	2	0	1	47	HP:0002104
MONDO:0017398	3MC syndrome	direct	23	ORPHA:293843	30	14	1	1	7	16	HP:0000076;HP:0000085;HP:0001263;HP:0001627;HP:0004209;HP:0410030;HP:6000808	OMIM:248340;OMIM:257920;OMIM:265050;ORPHA:293843	91	20	0	2	1	71	HP:0000076
MONDO:0017575	mitochondrial neurogastrointestinal encephalomyopathy	direct	10	ORPHA:298	48	6	3	0	1	42	HP:0003198	OMIM:603041;OMIM:612075;OMIM:613662;OMIM:619780;ORPHA:298	122	9	0	0	1	113	HP:0003198
MONDO:0017842	Senior-Loken syndrome	direct	12	ORPHA:3156	16	11	0	0	1	5	HP:0005576	OMIM:266900;OMIM:606995;OMIM:606996;OMIM:609254;OMIM:610189;OMIM:613615;OMIM:614845;OMIM:616307;OMIM:616629;ORPHA:3156	66	12	0	0	0	54	
MONDO:0017919	exstrophy-epispadias complex	direct	11	OMIM:258040;ORPHA:322	65	7	2	1	1	58	HP:0030911	OMIM:258040;OMIM:600057;ORPHA:322;ORPHA:93928;ORPHA:93929;ORPHA:93930	86	9	1	1	0	77	
MONDO:0017941	chikungunya	direct	4	ORPHA:324625	51	3	0	0	1	48	HP:0012819	ORPHA:324625	51	3	0	0	1	48	HP:0012819
MONDO:0018053	trichothiodystrophy	direct	27	ORPHA:33364	91	11	3	8	5	80	HP:0000135;HP:0001518;HP:0004322;HP:0006808;HP:0034425	OMIM:234050;OMIM:300953;OMIM:601675;OMIM:616390;OMIM:616395;OMIM:616943;OMIM:618546;OMIM:619691;OMIM:619692;ORPHA:33364	203	18	2	6	1	185	HP:0006808
MONDO:0018054	familial atrial fibrillation	direct	3	ORPHA:334	11	2	0	0	1	9	HP:0001297	OMIM:607554;OMIM:608583;OMIM:608988;OMIM:611493;OMIM:611494;OMIM:612201;OMIM:612240;OMIM:613055;OMIM:613980;OMIM:614022;OMIM:614049;OMIM:614050;OMIM:615377;OMIM:615378;OMIM:615770;OMIM:617280;ORPHA:334	48	3	0	0	0	45	
MONDO:0018071	trisomy 18	direct	8	ORPHA:3380	74	3	2	2	1	71	HP:0002870	ORPHA:3380	74	3	2	2	1	71	HP:0002870
MONDO:0018096	Weill-Marchesani syndrome	direct	12	ORPHA:3449	21	9	2	0	1	12	HP:0003720	OMIM:277600;OMIM:608328;OMIM:613195;OMIM:614819;ORPHA:2084;ORPHA:3449	63	9	2	0	1	54	HP:0003720
MONDO:0018106	hereditary xanthinuria	direct	11	ORPHA:3467	21	9	0	1	1	12	HP:0000126	OMIM:278300;OMIM:603592;ORPHA:3467	32	11	0	0	0	21	
MONDO:0018163	autosomal recessive cutis laxa type 2A	direct	19	OMIM:219200;ORPHA:357058	75	11	4	3	1	64	HP:0001075	OMIM:219200;OMIM:278250;ORPHA:2834;ORPHA:357058	128	11	4	3	1	117	HP:0001075
MONDO:0018309	Hirschsprung disease	direct	7	ORPHA:388	19	3	1	2	1	16	HP:0001263	ORPHA:388	19	3	1	2	1	16	HP:0001263
MONDO:0018338	activated PI3K-delta syndrome	direct	11	ORPHA:397596	24	5	3	1	2	19	HP:0004322;HP:0004429	OMIM:615513;OMIM:616005;ORPHA:397596;ORPHA:693661;ORPHA:693681	67	8	2	0	1	59	HP:0004429
MONDO:0018408	cystic echinococcosis	direct	5	ORPHA:400	41	4	0	0	1	37	HP:0031284	ORPHA:400	41	4	0	0	1	37	HP:0031284
MONDO:0018486	visual snow syndrome	direct	13	ORPHA:420556	23	12	0	0	1	11	HP:0020333	ORPHA:420556	23	12	0	0	1	11	HP:0020333
MONDO:0018493	malignant hyperthermia of anesthesia	direct	8	ORPHA:423	23	5	0	2	1	18	HP:0002063	ORPHA:423	23	5	0	2	1	18	HP:0002063
MONDO:0018614	undetermined early-onset epileptic encephalopathy	direct	6	ORPHA:442835	48	4	0	1	1	44	HP:0010846	OMIM:614558;OMIM:615833;OMIM:615871;OMIM:615905;OMIM:616056;OMIM:616211;OMIM:616339;OMIM:616346;OMIM:616366;OMIM:616409;OMIM:617105;OMIM:617106;OMIM:617132;OMIM:617153;OMIM:617162;OMIM:617166;ORPHA:442835	165	5	1	0	0	160	
MONDO:0018696	corticobasal syndrome	direct	9	ORPHA:454887	22	4	2	2	1	18	HP:0000605	ORPHA:454887	22	4	2	2	1	18	HP:0000605
MONDO:0018740	drug-induced methemoglobinemia	direct	4	ORPHA:464453	21	2	1	0	1	19	HP:0001878	ORPHA:464453	21	2	1	0	1	19	HP:0001878
MONDO:0018760	DeSanto-Shinawi syndrome	direct	11	ORPHA:466943	70	7	0	0	4	63	HP:0001627;HP:0001629;HP:0001647;HP:0011185	OMIM:616708;ORPHA:284169;ORPHA:466943;ORPHA:466950	119	10	0	0	1	109	HP:0011185
MONDO:0018801	congenital bilateral absence of vas deferens	direct	5	ORPHA:48	7	2	0	2	1	5	HP:0009714	OMIM:277180;OMIM:300985;ORPHA:48	11	3	0	1	1	8	HP:0009714
MONDO:0018820	recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome	direct	26	OMIM:616878;ORPHA:480864	92	20	2	3	1	72	HP:0001298	OMIM:616878;ORPHA:480864	92	20	2	3	1	72	HP:0001298
MONDO:0018868	metachromatic leukodystrophy	direct	6	ORPHA:512	45	3	0	2	1	42	HP:0002015	OMIM:249900;OMIM:250100;ORPHA:309256;ORPHA:309263;ORPHA:309271;ORPHA:512	100	5	0	1	0	95	
MONDO:0018870	arterial calcification of infancy	direct	8	ORPHA:51608	60	4	1	0	3	56	HP:0001635;HP:0100545;HP:0100685	OMIM:208000;OMIM:614473;ORPHA:51608	81	6	1	0	1	75	HP:0100685
MONDO:0018874	acute myeloid leukemia	direct	5	OMIM:601626	3	0	0	0	5	3	HP:0001873;HP:0001903;HP:0001974;HP:0002719;HP:0012378	OMIM:151380;OMIM:601626;OMIM:612376;ORPHA:318;ORPHA:514;ORPHA:517;ORPHA:520;ORPHA:86843	70	4	0	0	1	66	HP:0002719
MONDO:0018907	craniopharyngioma	direct	17	ORPHA:54595	46	13	1	2	1	33	HP:0002354	ORPHA:54595	46	13	1	2	1	33	HP:0002354
MONDO:0018937	mucopolysaccharidosis type 3	direct	18	ORPHA:581	105	13	2	2	1	92	HP:0011968	OMIM:252900;OMIM:252920;OMIM:252930;OMIM:252940;ORPHA:581	164	13	2	3	0	151	
MONDO:0018940	congenital myasthenic syndrome	direct	21	ORPHA:590	67	16	1	3	1	51	HP:0003750	OMIM:254190;OMIM:254210;OMIM:254300;OMIM:601462;OMIM:603034;OMIM:605809;OMIM:608930;OMIM:608931;OMIM:610542;OMIM:614198;OMIM:614750;OMIM:615120;OMIM:616040;OMIM:616224;OMIM:616227;OMIM:616228;OMIM:616304;OMIM:616313;OMIM:616314;OMIM:616321;OMIM:616322;OMIM:616323;OMIM:616324;OMIM:616325;OMIM:616326;OMIM:616330;OMIM:616720;OMIM:617143;OMIM:617239;OMIM:618197;OMIM:618198;OMIM:618323;OMIM:619461;ORPHA:590;ORPHA:98913;ORPHA:98914;ORPHA:98915	244	21	0	0	0	223	
MONDO:0018954	Loeys-Dietz syndrome	direct	38	ORPHA:60030	37	31	1	0	6	6	HP:0000939;HP:0001197;HP:0002758;HP:0010646;HP:0010648;HP:0500093	OMIM:609192;OMIM:610168;OMIM:613795;OMIM:614816;OMIM:615582;OMIM:619656;ORPHA:284984;ORPHA:60030	183	36	1	0	1	147	HP:0001197
MONDO:0018982	Niemann-Pick disease type C	direct	22	ORPHA:646	81	19	2	0	1	62	HP:0002185	OMIM:257220;OMIM:607625;ORPHA:646	105	20	2	0	0	85	
MONDO:0018997	Noonan syndrome	direct	40	ORPHA:648	70	29	4	2	5	41	HP:0000369;HP:0001642;HP:0009830;HP:0010310;HP:0010880	OMIM:163950;OMIM:605275;OMIM:609942;OMIM:610733;OMIM:611553;OMIM:613224;OMIM:613706;OMIM:615355;OMIM:616559;OMIM:616564;OMIM:618499;OMIM:618624;OMIM:619087;OMIM:619745;ORPHA:648	276	37	1	1	1	239	HP:0009830
MONDO:0019003	multiple endocrine neoplasia type 2	direct	5	ORPHA:653	48	3	0	1	1	45	HP:0003005	OMIM:155240;OMIM:162300;OMIM:171400;ORPHA:653	74	5	0	0	0	69	
MONDO:0019005	nephronophthisis	direct	9	ORPHA:655	3	0	2	0	7	3	HP:0000103;HP:0000510;HP:0000822;HP:0001395;HP:0001510;HP:0001959;HP:0003111	OMIM:256100;OMIM:602088;OMIM:604387;OMIM:606966;OMIM:611498;OMIM:613159;OMIM:613550;OMIM:613820;OMIM:613824;OMIM:614377;OMIM:614844;OMIM:614845;OMIM:615382;OMIM:615862;OMIM:616217;OMIM:617271;OMIM:619468;ORPHA:655	95	6	1	1	1	89	HP:0000510
MONDO:0019188	Rubinstein-Taybi syndrome	direct	22	ORPHA:783	66	14	1	4	3	52	HP:0002858;HP:0010055;HP:0010701	OMIM:180849;OMIM:610543;OMIM:613684;ORPHA:353277;ORPHA:353281;ORPHA:353284;ORPHA:783	253	19	1	1	1	234	HP:0010701
MONDO:0019266	SAPHO syndrome	direct	11	ORPHA:793	30	8	2	0	1	22	HP:0003565	ORPHA:793	30	8	2	0	1	22	HP:0003565
MONDO:0019344	antisynthetase syndrome	direct	12	ORPHA:81	44	9	2	0	1	35	HP:0003198	ORPHA:81	44	9	2	0	1	35	HP:0003198
MONDO:0019346	sialidosis type 1	direct	20	ORPHA:812	42	16	3	0	1	26	HP:0001272	ORPHA:812	42	16	3	0	1	26	HP:0001272
MONDO:0019443	dextro-looped transposition of the great arteries	direct	7	ORPHA:860	33	6	0	0	1	27	HP:0001655	OMIM:613854;ORPHA:860	45	6	0	0	1	39	HP:0001655
MONDO:0019490	progressive familial heart block	direct	7	ORPHA:871	8	3	3	0	1	5	HP:0006677	OMIM:113900;OMIM:140400;OMIM:604559;ORPHA:871	22	6	0	0	1	16	HP:0006677
MONDO:0019501	Usher syndrome	direct	9	ORPHA:886	37	6	2	0	1	31	HP:0000510	OMIM:276900;OMIM:276901;OMIM:276902;OMIM:276904;OMIM:601067;OMIM:602083;OMIM:602097;OMIM:605472;OMIM:606943;OMIM:611383;OMIM:614504;OMIM:614990;OMIM:618144;ORPHA:231169;ORPHA:231178;ORPHA:231183;ORPHA:886	77	9	0	0	0	68	
MONDO:0019507	amelogenesis imperfecta	direct	3	ORPHA:88661	16	2	0	0	1	14	HP:0000705	OMIM:104500;OMIM:104510;OMIM:104530;OMIM:130900;OMIM:204650;OMIM:204690;OMIM:204700;OMIM:301200;OMIM:301201;OMIM:612529;OMIM:613211;OMIM:614832;OMIM:615887;OMIM:616221;OMIM:616270;OMIM:617217;OMIM:617297;OMIM:617607;OMIM:618386;OMIM:620104;ORPHA:1031;ORPHA:88661	58	3	0	0	0	55	
MONDO:0019600	xeroderma pigmentosum	direct	12	ORPHA:910	59	7	4	0	1	52	HP:0001332	OMIM:278700;OMIM:278720;OMIM:278730;OMIM:278740;OMIM:278750;OMIM:278760;OMIM:278780;OMIM:610651;OMIM:621435;ORPHA:90342;ORPHA:910	127	10	1	0	1	117	HP:0001332
MONDO:0019797	acrodysostosis	direct	13	ORPHA:950	53	6	1	1	5	47	HP:0000821;HP:0001263;HP:0001513;HP:0001518;HP:0002901	OMIM:101800;OMIM:614613;ORPHA:950	98	9	1	2	1	89	HP:0002901
MONDO:0019876	8p inverted duplication/deletion syndrome	direct	8	ORPHA:96092	56	4	1	2	1	52	HP:0002205	ORPHA:96092	56	4	1	2	1	52	HP:0002205
MONDO:0020364	posterior polymorphous corneal dystrophy	direct	9	ORPHA:98973	20	6	1	1	1	14	HP:0000023	OMIM:122000;OMIM:609140;OMIM:609141;OMIM:618031;ORPHA:98973	32	9	0	0	0	23	
MONDO:0020560	atypical teratoid rhabdoid tumor	direct	6	ORPHA:99966	16	3	1	1	1	13	HP:0001254	OMIM:613325;ORPHA:99966	20	3	1	1	1	17	HP:0001254
MONDO:0020603	X-linked chondrodysplasia punctata 2	direct	12	OMIM:302960;ORPHA:35173	81	10	0	1	1	71	HP:0003417	OMIM:302960;ORPHA:35173	81	10	0	1	1	71	HP:0003417
MONDO:0020630	developmental and epileptic encephalopathy 91	direct	14	OMIM:617711	37	7	4	2	1	30	HP:0000729	OMIM:617711	37	7	4	2	1	30	HP:0000729
MONDO:0020667	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	direct	6	OMIM:207410	32	3	1	1	1	29	HP:0010301	OMIM:207410	32	3	1	1	1	29	HP:0010301
MONDO:0020751	orthostatic hypotension 2	direct	3	OMIM:618182	7	1	1	0	1	6	HP:0000083	OMIM:618182	7	1	1	0	1	6	HP:0000083
MONDO:0021022	hereditary hyperekplexia	direct	25	ORPHA:3197	21	21	0	0	4	0	HP:0000750;HP:0001263;HP:0002104;HP:0002267	OMIM:149400;OMIM:300607;OMIM:614618;OMIM:614619;OMIM:618011;ORPHA:163985;ORPHA:3197	74	24	0	0	1	50	HP:0000750
MONDO:0021056	familial adenomatous polyposis 1	direct	6	OMIM:175100	27	2	0	3	1	25	HP:0007703	OMIM:175100	27	2	0	3	1	25	HP:0007703
MONDO:0025193	oculopharyngodistal myopathy	direct	11	ORPHA:98897	36	2	1	5	3	34	HP:0003236;HP:0003805;HP:0100299	OMIM:164310;OMIM:618940;OMIM:619473;OMIM:619790;OMIM:621446;ORPHA:98897	94	9	0	1	1	85	HP:0100299
MONDO:0025514	livedoid vasculopathy	direct	4	ORPHA:542643	49	2	0	1	1	47	HP:0033505	ORPHA:542643	49	2	0	1	1	47	HP:0033505
MONDO:0030399	visceral neuropathy, familial, 2, autosomal recessive	direct	7	OMIM:619465	8	4	0	2	1	4	HP:0002804	OMIM:619465	8	4	0	2	1	4	HP:0002804
MONDO:0030719	hearing loss, autosomal dominant 82	direct	2	OMIM:619804	7	1	0	0	1	6	HP:0005101	OMIM:619804	7	1	0	0	1	6	HP:0005101
MONDO:0030887	cardiomyopathy, dilated, 2G	direct	2	OMIM:619897	19	1	0	0	1	18	HP:0001635	OMIM:619897	19	1	0	0	1	18	HP:0001635
MONDO:0030953	short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2	direct	6	OMIM:619184	41	3	0	2	1	38	HP:0004322	OMIM:619184	41	3	0	2	1	38	HP:0004322
MONDO:0031257	high altitude pulmonary edema	direct	6	ORPHA:330012	21	4	1	0	1	17	HP:0002092	ORPHA:330012	21	4	1	0	1	17	HP:0002092
MONDO:0032657	developmental and epileptic encephalopathy, 69	direct	8	OMIM:618285	21	5	0	2	1	16	HP:0012736	OMIM:618285	21	5	0	2	1	16	HP:0012736
MONDO:0032725	developmental and epileptic encephalopathy, 74	direct	7	OMIM:618396	20	2	1	3	1	18	HP:0002373	OMIM:618396	20	2	1	3	1	18	HP:0002373
MONDO:0032740	hearing loss, autosomal recessive 100	direct	2	OMIM:618422	5	0	1	0	1	5	HP:6000182	OMIM:618422	5	0	1	0	1	5	HP:6000182
MONDO:0032780	hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities	direct	13	OMIM:618493	42	7	1	4	1	35	HP:0002270	OMIM:618493	42	7	1	4	1	35	HP:0002270
MONDO:0032800	robinow syndrome, autosomal recessive 2	direct	3	OMIM:618529	36	2	0	0	1	34	HP:0000050	OMIM:618529	36	2	0	0	1	34	HP:0000050
MONDO:0033259	hearing loss, autosomal dominant 72	direct	3	OMIM:617606	5	1	1	0	1	4	HP:0012781	OMIM:617606	5	1	1	0	1	4	HP:0012781
MONDO:0033282	multiple mitochondrial dysfunctions syndrome 5	direct	12	OMIM:617613;ORPHA:569274	26	10	1	0	1	16	HP:0003128	OMIM:617613;ORPHA:569274	26	10	1	0	1	16	HP:0003128
MONDO:0033542	immunodeficiency 70	direct	2	OMIM:618969	18	1	0	0	1	17	HP:0031392	OMIM:618969	18	1	0	0	1	17	HP:0031392
MONDO:0033635	mitochondrial complex IV deficiency, nuclear type 3	direct	3	OMIM:619046	30	2	0	0	1	28	HP:0001298	OMIM:619046	30	2	0	0	1	28	HP:0001298
MONDO:0033645	mitochondrial complex IV deficiency, nuclear type 11	direct	6	OMIM:619054	20	4	0	1	1	16	HP:0001284	OMIM:619054	20	4	0	1	1	16	HP:0001284
MONDO:0033650	mitochondrial complex IV deficiency, nuclear type 15	direct	2	OMIM:619059	24	0	0	1	1	24	HP:0002415	OMIM:619059	24	0	0	1	1	24	HP:0002415
MONDO:0033653	mitochondrial complex IV deficiency, nuclear type 18	direct	4	OMIM:619062	13	2	0	1	1	11	HP:0001638	OMIM:619062	13	2	0	1	1	11	HP:0001638
MONDO:0033654	mitochondrial complex IV deficiency, nuclear type 19	direct	2	OMIM:619063	17	1	0	0	1	16	HP:0002363	OMIM:619063	17	1	0	0	1	16	HP:0002363
MONDO:0033655	mitochondrial complex IV deficiency, nuclear type 20	direct	3	OMIM:619064	22	1	0	1	1	21	HP:0003128	OMIM:619064	22	1	0	1	1	21	HP:0003128
MONDO:0033665	hearing loss, autosomal dominant 78	direct	2	OMIM:619081	7	0	0	1	1	7	HP:0008568	OMIM:619081	7	0	0	1	1	7	HP:0008568
MONDO:0033670	hearing loss, autosomal recessive 116	direct	5	OMIM:619093	5	0	4	0	1	5	HP:0000360	OMIM:619093	5	0	4	0	1	5	HP:0000360
MONDO:0034127	IgA pemphigus	direct	8	ORPHA:555905	19	6	1	0	1	13	HP:0020194	ORPHA:555905	19	6	1	0	1	13	HP:0020194
MONDO:0035149	secondary erythromelalgia	direct	6	ORPHA:529864	22	3	2	0	1	19	HP:0033402	ORPHA:529864	22	3	2	0	1	19	HP:0033402
MONDO:0036189	oculogastrointestinal-neurodevelopmental syndrome	direct	9	OMIM:619318	21	3	0	5	1	18	HP:0001305	OMIM:619318	21	3	0	5	1	18	HP:0001305
MONDO:0044329	osteogenesis imperfecta, type 18	direct	6	OMIM:617952	20	4	0	1	1	16	HP:0001510	OMIM:617952	20	4	0	1	1	16	HP:0001510
MONDO:0054551	avascular necrosis of femoral head, primary, 2	direct	2	OMIM:617383	5	1	0	0	1	4	HP:0030838	OMIM:617383	5	1	0	0	1	4	HP:0030838
MONDO:0054615	spermatogenic failure 18	direct	6	OMIM:617576	8	5	0	0	1	3	HP:0034811	OMIM:617576	8	5	0	0	1	3	HP:0034811
MONDO:0060562	encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities	direct	14	OMIM:617668	30	6	3	4	1	24	HP:0002126	OMIM:617668	30	6	3	4	1	24	HP:0002126
MONDO:0060585	neuronopathy, distal hereditary motor, type 9	direct	4	OMIM:617721	13	1	0	2	1	12	HP:0000763	OMIM:617721	13	1	0	2	1	12	HP:0000763
MONDO:0060650	Leber congenital amaurosis with early-onset deafness	direct	3	OMIM:617879	11	1	1	0	1	10	HP:0000510	OMIM:617879	11	1	1	0	1	10	HP:0000510
MONDO:0060713	deafness, congenital heart defects, and posterior embryotoxon	direct	8	OMIM:617992	8	5	1	1	1	3	HP:0012781	OMIM:617992	8	5	1	1	1	3	HP:0012781
MONDO:0100213	IFAP syndrome 1, with or without BRESHECK syndrome	direct	7	OMIM:308205	68	5	1	0	1	63	HP:0032107	OMIM:308205	68	5	1	0	1	63	HP:0032107
MONDO:0100215	Rajab interstitial lung disease with brain calcifications 1	direct	8	OMIM:613658	66	5	1	1	1	61	HP:0006517	OMIM:613658	66	5	1	1	1	61	HP:0006517
MONDO:0100224	mitochondrial complex I deficiency, nuclear type 1	direct	15	OMIM:252010	68	11	0	3	1	57	HP:0002120	OMIM:252010	68	11	0	3	1	57	HP:0002120
MONDO:0100244	paroxysmal nocturnal hemoglobinuria	direct	10	ORPHA:447	44	7	1	1	1	37	HP:0012378	OMIM:300818;OMIM:615399;ORPHA:447	53	9	1	0	0	44	
MONDO:0100280	Waldenstrom macroglobulinemia	direct	4	ORPHA:33226	45	2	1	0	1	43	HP:0020196	OMIM:153600;ORPHA:33226	49	2	1	0	1	47	HP:0020196
MONDO:0100326	Glanzmann thrombasthenia	direct	12	ORPHA:849	14	6	0	3	3	8	HP:0001891;HP:0001975;HP:0011891	OMIM:273800;OMIM:619267;ORPHA:849	29	9	1	1	1	20	HP:0001891
MONDO:0100488	CDH1-related diffuse gastric and lobular breast cancer syndrome	direct	3	OMIM:137215	6	1	0	1	1	5	HP:0003002	OMIM:137215	6	1	0	1	1	5	HP:0003002
MONDO:0700288	early-childhood-onset neurodegeneration with retinitis pigmentosa, sensorineural hearing loss, and demyelinating peripheral neuropathy	direct	4	OMIM:621129	31	0	1	2	1	31	HP:0100543	OMIM:621129	31	0	1	2	1	31	HP:0100543
MONDO:0700290	spermatogenic failure 98	direct	5	OMIM:621124	12	3	0	1	1	9	HP:0011961	OMIM:621124	12	3	0	1	1	9	HP:0011961
MONDO:0700297	homocystinuria-megaloblastic anemia cblD type	direct	6	OMIM:620952	29	5	0	0	1	24	HP:0002156	OMIM:620952	29	5	0	0	1	24	HP:0002156
MONDO:0800027	leukoencephalopathy, diffuse hereditary, with spheroids 1	direct	11	OMIM:221820	35	6	3	1	1	29	HP:0002514	OMIM:221820	35	6	3	1	1	29	HP:0002514
MONDO:0800104	immunodeficiency 105	direct	4	OMIM:619924	19	2	0	1	1	17	HP:0004430	OMIM:619924	19	2	0	1	1	17	HP:0004430
MONDO:0800187	immunodeficiency 83, susceptibility to viral infections	direct	2	OMIM:613002	14	1	0	0	1	13	HP:0033677	OMIM:613002	14	1	0	0	1	13	HP:0033677
MONDO:0800453	juvenile absence epilepsy	direct	7	ORPHA:1941	13	2	3	1	1	11	HP:0007018	ORPHA:1941	13	2	3	1	1	11	HP:0007018
MONDO:0800501	developmental and/or epileptic encephalopathy with spike-wave activation in sleep	direct	9	ORPHA:725	30	6	1	1	1	24	HP:0001263	ORPHA:725	30	6	1	1	1	24	HP:0001263
MONDO:0851095	KINSSHIP syndrome	direct	6	OMIM:619297	63	4	0	1	1	59	HP:0002088	OMIM:619297	63	4	0	1	1	59	HP:0002088
MONDO:0859137	neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia	direct	6	OMIM:619286	33	5	0	0	1	28	HP:0001321	OMIM:619286	33	5	0	0	1	28	HP:0001321
MONDO:0859139	blepharophimosis-impaired intellectual development syndrome	direct	6	OMIM:619293	69	5	0	0	1	64	HP:0000436	OMIM:619293	69	5	0	0	1	64	HP:0000436
MONDO:0859160	mitochondrial complex IV deficiency, nuclear type 22	direct	4	OMIM:619355	35	1	0	2	1	34	HP:0001639	OMIM:619355	35	1	0	2	1	34	HP:0001639
MONDO:0859167	hypokalemic tubulopathy and deafness	direct	4	OMIM:619406	8	2	1	0	1	6	HP:0002900	OMIM:619406	8	2	1	0	1	6	HP:0002900
MONDO:0859320	mitochondrial complex I deficiency, nuclear type 39	direct	5	OMIM:620135	17	4	0	0	1	13	HP:0001298	OMIM:620135	17	4	0	0	1	13	HP:0001298
MONDO:0859374	hearing loss, autosomal recessive 120	direct	3	OMIM:620238	3	0	2	0	1	3	HP:6000182	OMIM:620238	3	0	2	0	1	3	HP:6000182
MONDO:0859381	cardiomyopathy, dilated, 100	direct	3	OMIM:620247	9	2	0	0	1	7	HP:0001645	OMIM:620247	9	2	0	0	1	7	HP:0001645
MONDO:0859520	mitochondrial complex IV deficiency, nuclear type 23	direct	1	OMIM:620275	30	0	0	0	1	30	HP:0001298	OMIM:620275	30	0	0	0	1	30	HP:0001298
MONDO:0957541	neurodevelopmental disorder with hypotonia and speech delay, with or without seizures	direct	9	OMIM:620455	77	7	0	1	1	70	HP:6000988	OMIM:620455	77	7	0	1	1	70	HP:6000988
MONDO:0957984	cardiomyopathy, dilated, 2j	direct	4	OMIM:620635	6	2	0	1	1	4	HP:0001649	OMIM:620635	6	2	0	1	1	4	HP:0001649
MONDO:0958011	immunodeficiency 117	direct	4	OMIM:620668	35	2	0	1	1	33	HP:5210093	OMIM:620668	35	2	0	1	1	33	HP:5210093
MONDO:0958018	leukodystrophy, hypomyelinating, 27	direct	9	OMIM:620675	41	6	1	1	1	35	HP:0002134	OMIM:620675	41	6	1	1	1	35	HP:0002134
MONDO:0968947	neurodevelopmental disorder plus optic atrophy	direct	13	OMIM:620784	22	12	0	0	1	10	HP:0007663	OMIM:620784	22	12	0	0	1	10	HP:0007663
MONDO:0971174	multiple mitochondrial dysfunctions syndrome 9B	direct	18	OMIM:620887	198	15	0	2	1	183	HP:0000846	OMIM:620887	198	15	0	2	1	183	HP:0000846
MONDO:0975832	immunodeficiency 127	direct	2	OMIM:620977	6	1	0	0	1	5	HP:5210020	OMIM:620977	6	1	0	0	1	5	HP:5210020
MONDO:0976127	Muggenthaler-Chowdhury-Chioza syndrome	direct	12	OMIM:621063	78	7	2	2	1	71	HP:0001999	OMIM:621063	78	7	2	2	1	71	HP:0001999
MONDO:0976229	immunodeficiency 131	direct	9	OMIM:621097	81	7	0	1	1	74	HP:0005387	OMIM:621097	81	7	0	1	1	74	HP:0005387
MONDO:0980705	congenital disorder of glycosylation, type IIcc	direct	12	OMIM:621381	130	3	0	8	1	127	HP:0000113	OMIM:621381	130	3	0	8	1	127	HP:0000113
MONDO:0980940	neurodevelopmental disorder with hypotonia, epilepsy, and absent speech	direct	12	OMIM:621455	80	7	2	2	1	73	HP:0001371	OMIM:621455	80	7	2	2	1	73	HP:0001371
MONDO:0980941	neurodevelopmental disorder with speech delay, movement abnormalities, and seizures	direct	6	OMIM:621456	61	5	0	0	1	56	HP:0001263	OMIM:621456	61	5	0	0	1	56	HP:0001263
MONDO:0000170	microphthalmia, isolated, with coloboma	subtree_only	9									OMIM:251505;OMIM:610092;OMIM:611638;OMIM:613703;OMIM:614497;OMIM:615145;OMIM:616428;OMIM:620731;OMIM:620968	56	8	0	0	1	48	HP:0000407
MONDO:0000359	spondylocostal dysostosis	subtree_only	9									OMIM:122600;OMIM:277300;OMIM:608681;OMIM:609813;OMIM:613686;OMIM:616566;OMIM:621523;ORPHA:1797;ORPHA:2311	128	8	0	0	1	120	HP:0002092
MONDO:0000408	fetal alcohol spectrum disorder	subtree_only	8									ORPHA:1915	32	6	0	1	1	26	HP:0012745
MONDO:0001083	Fanconi renotubular syndrome	subtree_only	13									OMIM:134600;OMIM:613388;OMIM:615605;OMIM:616026;OMIM:618913;ORPHA:3337	66	11	1	0	1	55	HP:0000825
MONDO:0001195	spotted fever	subtree_only	5									ORPHA:83313	26	4	0	0	1	22	HP:6000793
MONDO:0001673	diarrheal disease	subtree_only	10									OMIM:214700;OMIM:251850;OMIM:270420;OMIM:610370;OMIM:613217;OMIM:614616;OMIM:615863;OMIM:616868;OMIM:618168;OMIM:618183;OMIM:618662;OMIM:619445;OMIM:620357;OMIM:621160;OMIM:621179;ORPHA:103907;ORPHA:2290;ORPHA:810;ORPHA:83620;ORPHA:92050	180	9	0	0	1	171	HP:0012701
MONDO:0003210	intrahepatic cholangiocarcinoma	subtree_only	6									ORPHA:99978	10	5	0	0	1	5	HP:0002018
MONDO:0004664	helminthiasis	subtree_only	2									ORPHA:1560;ORPHA:2035;ORPHA:231;ORPHA:284;ORPHA:400;ORPHA:74;ORPHA:863	220	1	0	0	1	219	HP:0002035
MONDO:0004822	bronchiectasis	subtree_only	7									OMIM:211400;OMIM:613021;OMIM:613071;ORPHA:60033	26	3	3	0	1	23	HP:0033709
MONDO:0005115	temporal lobe epilepsy	subtree_only	2									OMIM:600512;OMIM:608096;OMIM:611630;OMIM:611631;OMIM:614417;OMIM:615697;OMIM:616436;OMIM:616461	32	0	0	1	1	32	HP:0002354
MONDO:0005164	fibrosarcoma	subtree_only	1									ORPHA:31112	8	0	0	0	1	8	HP:0031459
MONDO:0005197	thymus neoplasm	subtree_only	2									OMIM:274230;ORPHA:97289;ORPHA:99867;ORPHA:99868	67	1	0	0	1	66	HP:0033827
MONDO:0005277	migraine disorder	subtree_only	7									OMIM:141500;OMIM:602481;OMIM:609634;ORPHA:569	79	4	1	1	1	75	HP:0012533
MONDO:0005384	focal epilepsy	subtree_only	6									OMIM:117100;OMIM:132300;OMIM:600512;OMIM:600513;OMIM:603204;OMIM:604364;OMIM:605375;OMIM:608096;OMIM:609446;OMIM:610353;OMIM:611630;OMIM:611631;OMIM:614417;OMIM:615005;OMIM:615697;OMIM:616436;OMIM:616461;OMIM:617116;OMIM:617118;OMIM:617935;ORPHA:101046;ORPHA:1945;ORPHA:79137;ORPHA:98784;ORPHA:98820	119	5	0	0	1	114	HP:0033258
MONDO:0005475	migraine with aura	subtree_only	6									OMIM:141500;OMIM:602481;OMIM:609634;ORPHA:569	79	3	1	1	1	76	HP:0002140
MONDO:0006502	acute respiratory distress syndrome	subtree_only	4									OMIM:267450;ORPHA:685082;ORPHA:70578	34	3	0	0	1	31	HP:0031457
MONDO:0006543	epidermolysis bullosa dystrophica	subtree_only	15									OMIM:131705;OMIM:131750;OMIM:131850;OMIM:226500;OMIM:226600;OMIM:604129;ORPHA:158673;ORPHA:158676;ORPHA:231568;ORPHA:79408;ORPHA:79409;ORPHA:79410;ORPHA:79411;ORPHA:89842;ORPHA:89843	134	13	1	0	1	121	HP:0010554
MONDO:0006602	porokeratosis	subtree_only	7									OMIM:175800;OMIM:175850;OMIM:175900;OMIM:612353;OMIM:614714;OMIM:616063;OMIM:616631;ORPHA:735;ORPHA:737;ORPHA:79152	23	4	2	0	1	19	HP:0002671
MONDO:0007743	attention deficit-hyperactivity disorder	subtree_only	3									OMIM:143465;OMIM:619957	6	1	0	1	1	5	HP:0100710
MONDO:0009043	generalized resistance to thyroid hormone	subtree_only	4									OMIM:188570;OMIM:274300;ORPHA:95712;ORPHA:95713;ORPHA:95719;ORPHA:95720	68	3	0	0	1	65	HP:0001649
MONDO:0009726	proteosome-associated autoinflammatory syndrome	subtree_only	7									OMIM:256040;OMIM:617591;OMIM:618048;OMIM:619175;OMIM:619183;OMIM:620796	142	4	1	1	1	138	HP:0009710
MONDO:0014805	Hao-Fountain syndrome	subtree_only	11									OMIM:616863;ORPHA:500055	66	6	2	2	1	60	HP:0002591
MONDO:0015170	congenital sodium diarrhea	subtree_only	7									OMIM:270420;OMIM:616868	28	3	2	1	1	25	HP:0001942
MONDO:0015375	orofaciodigital syndrome	subtree_only	19									OMIM:174300;OMIM:252100;OMIM:258850;OMIM:258860;OMIM:258865;OMIM:277170;OMIM:300484;OMIM:301132;OMIM:612913;OMIM:615948;OMIM:617127;OMIM:617563;OMIM:617926;OMIM:617927;OMIM:620107;OMIM:620718;ORPHA:2751;ORPHA:2753;ORPHA:2754;ORPHA:2919;ORPHA:434179	377	18	0	0	1	359	HP:0000113
MONDO:0015427	paroxysmal dyskinesia	subtree_only	10									OMIM:118800;OMIM:128200;OMIM:602066;OMIM:611031;OMIM:611147;OMIM:612126;OMIM:620245;ORPHA:98809;ORPHA:98810;ORPHA:98811	59	8	1	0	1	51	HP:0001288
MONDO:0015588	limbic encephalitis	subtree_only	11									ORPHA:163921;ORPHA:623615	39	7	2	1	1	32	HP:0002360
MONDO:0015691	hypereosinophilic syndrome	subtree_only	7									OMIM:607685;ORPHA:3260;ORPHA:724	90	4	0	2	1	86	HP:0001701
MONDO:0015892	growth hormone insensitivity syndrome	subtree_only	7									OMIM:245590;OMIM:262500;OMIM:270450;OMIM:604271;OMIM:608747;OMIM:615961;OMIM:618985;ORPHA:140941;ORPHA:220465;ORPHA:314802;ORPHA:633;ORPHA:73272;ORPHA:73273	151	6	0	0	1	145	HP:0005352
MONDO:0015974	severe combined immunodeficiency	subtree_only	13									OMIM:102700;OMIM:200900;OMIM:209920;OMIM:233650;OMIM:242880;OMIM:267500;OMIM:300400;OMIM:312863;OMIM:600802;OMIM:601457;OMIM:601705;OMIM:602450;OMIM:603554;OMIM:606593;OMIM:608203;OMIM:608971;OMIM:609889;OMIM:610163;OMIM:611291;OMIM:611926;OMIM:615206;OMIM:615401;OMIM:615592;OMIM:615615;OMIM:615617;OMIM:615758;OMIM:615966;OMIM:617237;OMIM:617514;OMIM:618131;OMIM:618261;OMIM:618986;OMIM:618987;OMIM:619238;OMIM:619924;OMIM:620815;OMIM:620816;OMIM:620817;OMIM:620818;ORPHA:169079;ORPHA:169095;ORPHA:169154;ORPHA:169160;ORPHA:183707;ORPHA:231154;ORPHA:275;ORPHA:276;ORPHA:277;ORPHA:331206;ORPHA:33355;ORPHA:35078;ORPHA:39041;ORPHA:572;ORPHA:935;ORPHA:99812	476	12	0	0	1	464	HP:0005354
MONDO:0016047	endophthalmitis	subtree_only	9									ORPHA:137599;ORPHA:67043	29	4	3	1	1	25	HP:0000667
MONDO:0016410	central congenital hypothyroidism	subtree_only	9									OMIM:275100;OMIM:300888;OMIM:618573;ORPHA:226307;ORPHA:90674;ORPHA:99832	81	5	3	0	1	76	HP:0001513
MONDO:0016982	angiosarcoma	subtree_only	3									ORPHA:33276	26	1	1	0	1	25	HP:0002105
MONDO:0017136	omodysplasia	subtree_only	22									OMIM:164745;OMIM:258315;ORPHA:93328;ORPHA:93329	82	15	4	2	1	67	HP:0001263
MONDO:0017148	heritable pulmonary arterial hypertension	subtree_only	6									OMIM:178600;OMIM:265400;OMIM:615342;OMIM:615343;OMIM:615344;OMIM:620777;OMIM:621248	87	5	0	0	1	82	HP:0003546
MONDO:0017436	lethal congenital contracture syndrome	subtree_only	20									OMIM:253310;OMIM:607598;OMIM:611369;OMIM:614915;OMIM:615368;OMIM:616248;OMIM:616286;OMIM:616287;OMIM:616503;OMIM:617022;OMIM:617194;OMIM:621511;ORPHA:1486	175	14	2	3	1	161	HP:0000011
MONDO:0017604	marginal zone lymphoma	subtree_only	2									OMIM:137245;ORPHA:52417	20	1	0	0	1	19	HP:0001744
MONDO:0017853	hypersensitivity pneumonitis	subtree_only	5									OMIM:145300;ORPHA:2902	28	2	1	1	1	26	HP:0001217
MONDO:0018381	osteochondrosis	subtree_only	8									OMIM:150600;OMIM:165700;OMIM:181440;OMIM:274270;ORPHA:1675;ORPHA:2380;ORPHA:3314;ORPHA:563991;ORPHA:564003;ORPHA:57196;ORPHA:97332;ORPHA:97335;ORPHA:97336;ORPHA:97337	146	5	2	0	1	141	HP:0030838
MONDO:0018432	lichen myxedematosus	subtree_only	9									ORPHA:167635	40	5	0	3	1	35	HP:0200036
MONDO:0018479	congenital adrenal hyperplasia	subtree_only	10									OMIM:201710;OMIM:201810;OMIM:201910;OMIM:202010;OMIM:202110;OMIM:613571;ORPHA:90790;ORPHA:90791;ORPHA:90793;ORPHA:90794;ORPHA:90795;ORPHA:95699	224	7	2	0	1	217	HP:0005978
MONDO:0018677	visceral heterotaxy	subtree_only	7									OMIM:208530;OMIM:270100;OMIM:306955;OMIM:601086;OMIM:605376;OMIM:613751;OMIM:614779;OMIM:616749;OMIM:617205;OMIM:618948;OMIM:619607;OMIM:619608;OMIM:619702;OMIM:621079;OMIM:621080;ORPHA:1666	174	6	0	0	1	168	HP:0012722
MONDO:0018947	centronuclear myopathy	subtree_only	15									OMIM:160150;OMIM:255200;OMIM:300219;OMIM:310400;OMIM:614807;OMIM:615959;OMIM:617760;ORPHA:169186;ORPHA:169189;ORPHA:456328;ORPHA:596	167	13	1	0	1	154	HP:0001392
MONDO:0018958	nemaline myopathy	subtree_only	9									OMIM:161800;OMIM:256030;OMIM:605355;OMIM:609273;OMIM:609284;OMIM:609285;OMIM:610687;OMIM:615348;OMIM:615731;OMIM:616165;OMIM:617336;OMIM:620386;OMIM:620389;ORPHA:171430;ORPHA:171436;ORPHA:171439;ORPHA:171442;ORPHA:98902	201	8	0	0	1	193	HP:0002486
MONDO:0019165	central precocious puberty	subtree_only	4									OMIM:176400;OMIM:615346	10	2	0	1	1	8	HP:0000098
MONDO:0019954	pancreatic neuroendocrine tumor	subtree_only	7									ORPHA:97261;ORPHA:97278;ORPHA:97279;ORPHA:97280;ORPHA:97282;ORPHA:97283	99	4	0	2	1	95	HP:0004398
MONDO:0020066	Ehlers-Danlos syndrome	subtree_only	16									OMIM:130000;OMIM:130010;OMIM:130020;OMIM:130050;OMIM:130060;OMIM:130070;OMIM:130080;OMIM:225310;OMIM:225320;OMIM:225400;OMIM:225410;OMIM:229200;OMIM:601776;OMIM:606408;OMIM:612350;OMIM:614170;OMIM:614557;OMIM:615349;OMIM:615539;OMIM:616471;OMIM:617174;OMIM:617821;OMIM:618000;OMIM:619115;OMIM:619120;OMIM:620865;ORPHA:157965;ORPHA:1899;ORPHA:1900;ORPHA:1901;ORPHA:2295;ORPHA:230839;ORPHA:230851;ORPHA:285;ORPHA:286;ORPHA:287;ORPHA:2953;ORPHA:300179;ORPHA:536467;ORPHA:536471;ORPHA:536516;ORPHA:536532;ORPHA:75392;ORPHA:75496;ORPHA:75497;ORPHA:90354	660	14	1	0	1	646	HP:0033608
MONDO:0021107	narcolepsy	subtree_only	5									OMIM:161400;OMIM:609039;OMIM:614250;ORPHA:2073;ORPHA:83465	40	4	0	0	1	36	HP:0002329
MONDO:0025294	tick-borne infectious disease	subtree_only	6									ORPHA:297;ORPHA:91546	80	5	0	0	1	75	HP:0031180
MONDO:0031219	mismatch repair cancer syndrome	subtree_only	11									OMIM:276300;OMIM:619096;OMIM:619097;OMIM:619101	27	6	2	2	1	21	HP:0030692
MONDO:0100039	CDKL5 disorder	subtree_only	17									OMIM:300672;ORPHA:505652	73	12	3	1	1	61	HP:0012332
MONDO:0100091	inherited pseudoxanthoma elasticum	subtree_only	11									OMIM:177850;OMIM:264800;ORPHA:758	69	8	2	0	1	61	HP:0001658
MONDO:0100216	DICER1-related tumor predisposition	subtree_only	6									OMIM:138800;OMIM:601200;ORPHA:276399	18	5	0	0	1	13	HP:0034836
MONDO:0100437	RPGR-related retinopathy	subtree_only	11									OMIM:300029;OMIM:300834;OMIM:304020	22	10	0	0	1	12	HP:0000550
MONDO:0100445	LCA5-related retinopathy	subtree_only	5									OMIM:604537	8	3	1	0	1	5	HP:0000580
MONDO:0100509	IFT140-related recessive ciliopathy	subtree_only	9									OMIM:266920;OMIM:617781	104	6	0	2	1	98	HP:0008499
MONDO:0700224	PDE6A-related retinopathy	subtree_only	4									OMIM:613810	11	0	3	0	1	11	HP:0011505
MONDO:0700291	glycogen storage disease IX	subtree_only	17									OMIM:261750;OMIM:306000;OMIM:613027;ORPHA:79240	60	16	0	0	1	44	HP:0001397
MONDO:0700377	NDP-related vitreoretinopathy	subtree_only	5									OMIM:305390;OMIM:310600;ORPHA:649	86	3	1	0	1	83	HP:0007750
MONDO:0800395	PRPF31-related retinopathy	subtree_only	5									OMIM:600138	13	4	0	0	1	9	HP:0000512
MONDO:0957553	Houge-Janssens syndrome	subtree_only	14									OMIM:616355;OMIM:616362;OMIM:618354;OMIM:621185;ORPHA:457279;ORPHA:457284	215	13	0	0	1	202	HP:0001300
MONDO:1040055	PRPH2-related retinopathy	subtree_only	3									OMIM:136880;OMIM:169150;OMIM:608133;OMIM:608161;OMIM:613105;ORPHA:52427	40	2	0	0	1	38	HP:0030602
MONDO:1040064	CRX-related retinopathy	subtree_only	8									OMIM:120970;OMIM:613829	24	5	2	0	1	19	HP:0007401
MONDO:1060214	SYCE1-related gametogenic failure	subtree_only	5									OMIM:616947;OMIM:616950	11	4	0	0	1	7	HP:0008209
MONDO:0000127	geleophysic dysplasia	direct	25	ORPHA:2623	47	25	0	0	0	22		OMIM:231050;OMIM:614185;OMIM:617809;ORPHA:2623	97	25	0	0	0	72	
MONDO:0000133	immunodeficiency-centromeric instability-facial anomalies syndrome	direct	23	ORPHA:2268	23	23	0	0	0	0		OMIM:242860;OMIM:614069;OMIM:616910;OMIM:616911;ORPHA:2268	62	23	0	0	0	39	
MONDO:0000141	mosaic variegated aneuploidy syndrome	direct	25	ORPHA:1052	64	25	0	0	0	39		OMIM:257300;OMIM:614114;OMIM:617598;OMIM:620153;OMIM:620184;OMIM:620185;OMIM:620189;ORPHA:1052	194	25	0	0	0	169	
MONDO:0000355	Ullrich congenital muscular dystrophy	direct	31	ORPHA:75840	31	31	0	0	0	0		OMIM:254090;OMIM:616470;OMIM:620727;OMIM:620728;ORPHA:75840	84	31	0	0	0	53	
MONDO:0000447	autosomal dominant polycystic liver disease	direct	19	ORPHA:2924	22	19	0	0	0	3		OMIM:174050;OMIM:617004;OMIM:617874;OMIM:617875;ORPHA:2924	28	19	0	0	0	9	
MONDO:0000507	inclusion body myopathy with Paget disease of bone and frontotemporal dementia	direct	25	ORPHA:52430	43	25	0	0	0	18		OMIM:167320;OMIM:615422;OMIM:615424;OMIM:619733;ORPHA:52430	97	25	0	0	0	72	
MONDO:0000845	fibrous dysplasia	direct	36	ORPHA:249	62	36	0	0	0	26		ORPHA:249	62	36	0	0	0	26	
MONDO:0000902	agenesis of the corpus callosum with peripheral neuropathy	direct	20	OMIM:218000;ORPHA:1496	67	20	0	0	0	47		OMIM:218000;ORPHA:1496	67	20	0	0	0	47	
MONDO:0000914	cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	direct	11	OMIM:125310;ORPHA:136	59	10	1	0	0	49		OMIM:125310;ORPHA:136	59	10	1	0	0	49	
MONDO:0001029	Klippel-Feil syndrome	direct	5	ORPHA:2345	32	4	1	0	0	28		OMIM:118100;OMIM:214300;OMIM:314600;OMIM:613702;OMIM:616549;ORPHA:2345;ORPHA:3456	83	4	1	0	0	79	
MONDO:0002546	schwannoma	direct	5	ORPHA:252164	24	2	2	1	0	22		OMIM:162091;OMIM:162260;OMIM:615670;ORPHA:252164;ORPHA:93921	50	5	0	0	0	45	
MONDO:0004691	autosomal dominant polycystic kidney disease	direct	26	ORPHA:730	26	26	0	0	0	0		OMIM:173900;OMIM:600666;OMIM:613095;OMIM:618061;OMIM:620056;OMIM:620903;ORPHA:730	65	26	0	0	0	39	
MONDO:0005029	essential thrombocythemia	direct	29	ORPHA:3318	30	29	0	0	0	1		ORPHA:3318	30	29	0	0	0	1	
MONDO:0005055	Kaposi's sarcoma	direct	5	ORPHA:33276	26	3	0	2	0	23		ORPHA:33276	26	3	0	2	0	23	
MONDO:0005072	neuroblastoma	direct	7	ORPHA:635	34	6	0	1	0	28		ORPHA:635	34	6	0	1	0	28	
MONDO:0005100	systemic sclerosis	direct	20	ORPHA:90291	86	20	0	0	0	66		OMIM:181750;ORPHA:220393;ORPHA:220402;ORPHA:90291	113	20	0	0	0	93	
MONDO:0005312	pouchitis	direct	5	ORPHA:217067	10	5	0	0	0	5		ORPHA:217067	10	5	0	0	0	5	
MONDO:0005321	Fuchs' endothelial dystrophy	direct	9	ORPHA:98974	9	9	0	0	0	0		OMIM:136800;OMIM:610158;OMIM:613267;OMIM:613268;OMIM:613270;OMIM:615523;ORPHA:98974	18	9	0	0	0	9	
MONDO:0005342	IgA glomerulonephritis	direct	10	ORPHA:34145	17	10	0	0	0	7		ORPHA:34145	17	10	0	0	0	7	
MONDO:0005388	primary biliary cholangitis	direct	4	ORPHA:186	41	4	0	0	0	37		OMIM:109720;ORPHA:186	42	4	0	0	0	38	
MONDO:0005459	human African trypanosomiasis	direct	1	ORPHA:3385	86	1	0	0	0	85		ORPHA:3385	86	1	0	0	0	85	
MONDO:0005502	dengue disease	direct	2	ORPHA:99828	22	2	0	0	0	20		ORPHA:99828	22	2	0	0	0	20	
MONDO:0005661	babesiosis	direct	23	ORPHA:108	31	23	0	0	0	8		ORPHA:108	31	23	0	0	0	8	
MONDO:0005789	hepatitis D virus infection	direct	2	ORPHA:402823	18	2	0	0	0	16		ORPHA:402823	18	2	0	0	0	16	
MONDO:0006292	malignant mesothelioma	direct	5	OMIM:156240;ORPHA:50251	19	4	1	0	0	15		OMIM:156240;ORPHA:168811;ORPHA:50251	27	4	1	0	0	23	
MONDO:0006468	thyroid gland undifferentiated (anaplastic) carcinoma	direct	11	ORPHA:142	23	9	1	1	0	14		ORPHA:142	23	9	1	1	0	14	
MONDO:0006952	retinopathy of prematurity	direct	5	ORPHA:90050	15	2	1	2	0	13		ORPHA:90050	15	2	1	2	0	13	
MONDO:0007038	Achoo syndrome	direct	1	OMIM:100820	2	1	0	0	0	1		OMIM:100820	2	1	0	0	0	1	
MONDO:0007042	Saethre-Chotzen syndrome	direct	7	OMIM:101400;ORPHA:794	83	6	1	0	0	77		OMIM:101400;ORPHA:794	83	6	1	0	0	77	
MONDO:0007057	acroosteolysis dominant type	direct	11	OMIM:102500;ORPHA:955	115	9	2	0	0	106		OMIM:102500;ORPHA:955	115	9	2	0	0	106	
MONDO:0007068	adenylosuccinate lyase deficiency	direct	20	OMIM:103050;ORPHA:46	49	19	0	1	0	30		OMIM:103050;ORPHA:46	49	19	0	1	0	30	
MONDO:0007100	familial amyloid neuropathy	direct	16	ORPHA:271861	43	16	0	0	0	27		OMIM:105210;OMIM:620657;OMIM:620658;OMIM:620659;ORPHA:271861;ORPHA:85447;ORPHA:85451	133	16	0	0	0	117	
MONDO:0007113	Angelman syndrome	direct	35	OMIM:105830;ORPHA:72	91	34	1	0	0	57		OMIM:105830;ORPHA:411511;ORPHA:411515;ORPHA:72;ORPHA:98794;ORPHA:98795	113	34	1	0	0	79	
MONDO:0007130	congenital total pulmonary venous return anomaly	direct	12	OMIM:106700;ORPHA:99125	42	11	0	1	0	31		OMIM:106700;ORPHA:99125	42	11	0	1	0	31	
MONDO:0007154	arteriovenous malformations of the brain	direct	4	OMIM:108010;ORPHA:46724	13	2	2	0	0	11		OMIM:108010;ORPHA:46724	13	2	2	0	0	11	
MONDO:0007191	Behcet disease	direct	24	OMIM:109650;ORPHA:117	94	22	2	0	0	72		OMIM:109650;ORPHA:117	94	22	2	0	0	72	
MONDO:0007203	blue rubber bleb nevus	direct	4	OMIM:112200;ORPHA:1059	26	1	2	1	0	25		OMIM:112200;ORPHA:1059	26	1	2	1	0	25	
MONDO:0007295	self-limited epilepsy with centrotemporal spikes	direct	8	OMIM:117100;ORPHA:1945	23	5	2	1	0	18		OMIM:117100;ORPHA:1945	23	5	2	1	0	18	
MONDO:0007387	Cornelia de Lange syndrome 1	direct	16	OMIM:122470	129	12	1	3	0	117		OMIM:122470	129	12	1	3	0	117	
MONDO:0007389	spondylocostal dysostosis 5	direct	2	OMIM:122600	16	2	0	0	0	14		OMIM:122600	16	2	0	0	0	14	
MONDO:0007400	Jackson-Weiss syndrome	direct	5	OMIM:123150;ORPHA:1540	33	4	0	1	0	29		OMIM:123150;ORPHA:1540	33	4	0	1	0	29	
MONDO:0007414	Gorham-Stout disease	direct	3	ORPHA:73	36	2	1	0	0	34		ORPHA:73	36	2	1	0	0	34	
MONDO:0007417	Darier disease	direct	6	OMIM:124200;ORPHA:218	31	6	0	0	0	25		OMIM:124200;ORPHA:218	31	6	0	0	0	25	
MONDO:0007422	keratoderma hereditarium mutilans	direct	8	OMIM:124500;ORPHA:494	20	7	1	0	0	13		OMIM:124500;ORPHA:494	20	7	1	0	0	13	
MONDO:0007435	dentatorubral-pallidoluysian atrophy	direct	6	OMIM:125370;ORPHA:101	38	6	0	0	0	32		OMIM:125370;ORPHA:101	38	6	0	0	0	32	
MONDO:0007510	Clouston syndrome	direct	8	OMIM:129500;ORPHA:189	44	5	3	0	0	39		OMIM:129500;ORPHA:189	44	5	3	0	0	39	
MONDO:0007522	Ehlers-Danlos syndrome, classic type	direct	12	ORPHA:287	68	11	0	1	0	57		OMIM:130000;OMIM:130010;ORPHA:287	90	12	0	0	0	78	
MONDO:0007534	Beckwith-Wiedemann syndrome	direct	17	OMIM:130650;ORPHA:116	93	16	1	0	0	77		OMIM:130650;ORPHA:116	93	16	1	0	0	77	
MONDO:0007540	multiple endocrine neoplasia type 1	direct	6	OMIM:131100;ORPHA:652	86	6	0	0	0	80		OMIM:131100;ORPHA:652	86	6	0	0	0	80	
MONDO:0007621	Floating-Harbor syndrome	direct	8	OMIM:136140;ORPHA:2044	110	7	0	1	0	103		OMIM:136140;ORPHA:2044	110	7	0	1	0	103	
MONDO:0007690	aromatase excess syndrome	direct	7	OMIM:139300;ORPHA:178345	20	6	0	1	0	14		OMIM:139300;ORPHA:178345	20	6	0	1	0	14	
MONDO:0007698	hand-foot-genital syndrome	direct	5	OMIM:140000;ORPHA:2438	86	4	0	1	0	82		OMIM:140000;ORPHA:2438	86	4	0	1	0	82	
MONDO:0007732	Holt-Oram syndrome	direct	9	OMIM:142900;ORPHA:392	119	6	0	3	0	113		OMIM:140450;OMIM:142900;ORPHA:392	124	6	2	1	0	118	
MONDO:0007804	Pallister-Hall syndrome	direct	9	OMIM:146510;ORPHA:672	132	8	0	1	0	124		OMIM:146510;OMIM:241800;ORPHA:672	149	8	0	1	0	141	
MONDO:0007838	Jacobsen syndrome	direct	10	OMIM:147791;ORPHA:2308	105	7	0	3	0	98		OMIM:147791;ORPHA:2308	105	7	0	3	0	98	
MONDO:0007863	Kleine-Levin syndrome	direct	6	OMIM:148840;ORPHA:33543	37	6	0	0	0	31		OMIM:148840;ORPHA:33543	37	6	0	0	0	31	
MONDO:0007875	Larsen syndrome	direct	12	OMIM:150250;ORPHA:503	63	11	1	0	0	52		OMIM:150250;ORPHA:503	63	11	1	0	0	52	
MONDO:0007888	hereditary leiomyomatosis and renal cell cancer	direct	3	OMIM:150800;ORPHA:523	16	2	1	0	0	14		OMIM:150800;ORPHA:523	16	2	1	0	0	14	
MONDO:0007915	systemic lupus erythematosus	direct	30	OMIM:152700;ORPHA:536	53	30	0	0	0	23		OMIM:152700;OMIM:301080;OMIM:614420;OMIM:621369;ORPHA:398124;ORPHA:536;ORPHA:93552	161	30	0	0	0	131	
MONDO:0007947	Marfan syndrome	direct	26	OMIM:154700;ORPHA:558	106	26	0	0	0	80		OMIM:154700;ORPHA:284979;ORPHA:558	131	26	0	0	0	105	
MONDO:0007949	Marshall syndrome	direct	11	OMIM:154780;ORPHA:560	70	8	3	0	0	62		OMIM:154780;ORPHA:560	70	8	3	0	0	62	
MONDO:0007977	mesomelic dysplasia, Kantaputra type	direct	4	OMIM:156232;ORPHA:1836	18	4	0	0	0	14		OMIM:156232;OMIM:613681;ORPHA:1836	26	4	0	0	0	22	
MONDO:0008009	monilethrix	direct	3	ORPHA:573	14	2	0	1	0	12		OMIM:158000;OMIM:621169;OMIM:621170;ORPHA:573	28	3	0	0	0	25	
MONDO:0008045	spinal muscular atrophy-progressive myoclonic epilepsy syndrome	direct	7	OMIM:159950;ORPHA:2590	46	4	1	2	0	42		OMIM:159950;ORPHA:2590	46	4	1	2	0	42	
MONDO:0008075	schwannomatosis	direct	3	ORPHA:93921	20	2	1	0	0	18		OMIM:162091;OMIM:162260;OMIM:615670;ORPHA:93921	30	2	1	0	0	28	
MONDO:0008087	hereditary neuropathy with liability to pressure palsies	direct	5	OMIM:162500;ORPHA:640	26	4	0	1	0	22		OMIM:162500;ORPHA:640	26	4	0	1	0	22	
MONDO:0008214	Pelger-Huet anomaly	direct	4	OMIM:169400	36	3	0	1	0	33		OMIM:169400	36	3	0	1	0	33	
MONDO:0008244	piebaldism	direct	3	OMIM:172800;ORPHA:2884	24	2	1	0	0	22		OMIM:172800;ORPHA:2884	24	2	1	0	0	22	
MONDO:0008280	Peutz-Jeghers syndrome	direct	15	OMIM:175200;ORPHA:2869	54	12	3	0	0	42		OMIM:175200;ORPHA:2869	54	12	3	0	0	42	
MONDO:0008283	Cronkhite-Canada syndrome	direct	6	OMIM:175500;ORPHA:2930	50	5	1	0	0	45		OMIM:175500;ORPHA:2930	50	5	1	0	0	45	
MONDO:0008287	Greig cephalopolysyndactyly syndrome	direct	13	OMIM:175700;ORPHA:380	57	11	0	2	0	46		OMIM:175700;ORPHA:380	57	11	0	2	0	46	
MONDO:0008300	Prader-Willi syndrome	direct	25	OMIM:176270;ORPHA:739	145	25	0	0	0	120		OMIM:176270;OMIM:615547;ORPHA:177901;ORPHA:177904;ORPHA:177907;ORPHA:177910;ORPHA:398069;ORPHA:739;ORPHA:98754;ORPHA:98793	243	25	0	0	0	218	
MONDO:0008346	pulmonary hemosiderosis	direct	29	OMIM:178550;ORPHA:99931	33	29	0	0	0	4		OMIM:178550;OMIM:235500;ORPHA:99931	36	29	0	0	0	7	
MONDO:0008434	Smith-Magenis syndrome	direct	29	OMIM:182290;ORPHA:819	134	23	5	1	0	111		OMIM:182290;ORPHA:819	134	23	5	1	0	111	
MONDO:0008457	spinocerebellar ataxia type 6	direct	12	OMIM:183086;ORPHA:98758	39	10	2	0	0	29		OMIM:183086;ORPHA:98758	39	10	2	0	0	29	
MONDO:0008490	otospondylomegaepiphyseal dysplasia, autosomal dominant	direct	10	OMIM:184840;ORPHA:166100	22	10	0	0	0	12		OMIM:184840;ORPHA:166100	22	10	0	0	0	12	
MONDO:0008491	stiff-person syndrome	direct	24	OMIM:184850;ORPHA:3198	45	24	0	0	0	21		OMIM:184850;ORPHA:3198;ORPHA:443804	52	24	0	0	0	28	
MONDO:0008492	stiff skin syndrome	direct	5	OMIM:184900;ORPHA:2833	36	4	1	0	0	32		OMIM:184900;OMIM:228020;ORPHA:2833	41	4	1	0	0	37	
MONDO:0008535	telangiectasia, hereditary hemorrhagic, type 1	direct	11	OMIM:187300	53	9	1	1	0	44		OMIM:187300	53	9	1	1	0	44	
MONDO:0008538	temporal arteritis	direct	23	OMIM:187360;ORPHA:397	77	23	0	0	0	54		OMIM:187360;ORPHA:397	77	23	0	0	0	54	
MONDO:0008546	thanatophoric dysplasia type 1	direct	19	OMIM:187600;ORPHA:1860	68	17	1	1	0	51		OMIM:187600;ORPHA:1860	68	17	1	1	0	51	
MONDO:0008558	autoimmune thrombocytopenic purpura	direct	4	OMIM:188030;ORPHA:3002	23	4	0	0	0	19		OMIM:188030;ORPHA:3002	23	4	0	0	0	19	
MONDO:0008582	tooth and nail syndrome	direct	5	OMIM:189500;ORPHA:2228	24	2	3	0	0	22		OMIM:189500;ORPHA:2228	24	2	3	0	0	22	
MONDO:0008602	triglyceride storage disease, type 2	direct	1	OMIM:190430	2	1	0	0	0	1		OMIM:190430	2	1	0	0	0	1	
MONDO:0008633	Muckle-Wells syndrome	direct	10	OMIM:191900;ORPHA:575	55	7	2	1	0	48		OMIM:191900;ORPHA:575	55	7	2	1	0	48	
MONDO:0008667	von Hippel-Lindau disease	direct	8	OMIM:193300;ORPHA:892	49	7	1	0	0	42		OMIM:193300;ORPHA:892	49	7	1	0	0	42	
MONDO:0008682	Denys-Drash syndrome	direct	9	OMIM:194080;ORPHA:220	27	6	1	2	0	21		OMIM:194080;ORPHA:220	27	6	1	2	0	21	
MONDO:0008686	isolated familial wooly hair disorder	direct	6	ORPHA:170	12	3	1	2	0	9		OMIM:194300;OMIM:278150;OMIM:604379;OMIM:615896;OMIM:616760;ORPHA:170	39	5	0	1	0	34	
MONDO:0008692	abetalipoproteinemia	direct	40	OMIM:200100;ORPHA:14	69	38	1	1	0	31		OMIM:200100;ORPHA:14	69	38	1	1	0	31	
MONDO:0008722	short chain acyl-CoA dehydrogenase deficiency	direct	10	OMIM:201470;ORPHA:26792	40	9	0	1	0	31		OMIM:201470;ORPHA:26792	40	9	0	1	0	31	
MONDO:0008733	familial glucocorticoid deficiency	direct	7	ORPHA:361	35	4	1	2	0	31		OMIM:202200;OMIM:202355;OMIM:607398;OMIM:609197;OMIM:614736;OMIM:617825;ORPHA:361	61	7	0	0	0	54	
MONDO:0008753	alkaptonuria	direct	30	OMIM:203500;ORPHA:56	65	30	0	0	0	35		OMIM:203500;ORPHA:56	65	30	0	0	0	35	
MONDO:0008758	mitochondrial DNA depletion syndrome 4a	direct	9	OMIM:203700;ORPHA:726	64	9	0	0	0	55		OMIM:203700;ORPHA:726	64	9	0	0	0	55	
MONDO:0008830	aspartylglucosaminuria	direct	41	OMIM:208400;ORPHA:93	78	41	0	0	0	37		OMIM:208400;ORPHA:93	78	41	0	0	0	37	
MONDO:0008907	PMM2-congenital disorder of glycosylation	direct	22	OMIM:212065;ORPHA:79318	137	21	1	0	0	116		OMIM:212065;ORPHA:79318	137	21	1	0	0	116	
MONDO:0008948	cerebrotendinous xanthomatosis	direct	48	OMIM:213700;ORPHA:909	115	48	0	0	0	67		OMIM:213700;ORPHA:909	115	48	0	0	0	67	
MONDO:0008963	Chediak-Higashi syndrome	direct	16	OMIM:214500;ORPHA:167	97	13	3	0	0	84		OMIM:214500;ORPHA:167	97	13	3	0	0	84	
MONDO:0008964	congenital secretory chloride diarrhea 1	direct	6	OMIM:214700	21	5	0	1	0	16		OMIM:214700	21	5	0	1	0	16	
MONDO:0008974	Greenberg dysplasia	direct	7	OMIM:215140;ORPHA:1426	91	5	0	2	0	86		OMIM:215140;ORPHA:1426	91	5	0	2	0	86	
MONDO:0008988	citrullinemia type I	direct	13	OMIM:215700;ORPHA:247525	45	12	1	0	0	33		OMIM:215700;ORPHA:247525	45	12	1	0	0	33	
MONDO:0008999	Cohen syndrome	direct	12	OMIM:216550;ORPHA:193	99	10	0	2	0	89		OMIM:216550;ORPHA:193	99	10	0	2	0	89	
MONDO:0009008	heart defect - tongue hamartoma - polysyndactyly syndrome	direct	3	OMIM:217085;ORPHA:1338	18	2	0	1	0	16		OMIM:217085;ORPHA:1338	18	2	0	1	0	16	
MONDO:0009044	Crigler-Najjar syndrome	direct	3	ORPHA:205	22	2	1	0	0	20		OMIM:218800;OMIM:606785;ORPHA:205;ORPHA:79234;ORPHA:79235	35	3	0	0	0	32	
MONDO:0009067	cystinuria	direct	19	OMIM:220100;ORPHA:214	21	19	0	0	0	2		OMIM:220100;ORPHA:214	21	19	0	0	0	2	
MONDO:0009076	autosomal recessive nonsyndromic hearing loss 1A	direct	1	OMIM:220290	4	0	1	0	0	4		OMIM:220290	4	0	1	0	0	4	
MONDO:0009105	trichohepatoenteric syndrome	direct	9	ORPHA:84064	52	7	0	2	0	45		OMIM:222470;OMIM:614602;ORPHA:84064	98	9	0	0	0	89	
MONDO:0009109	lysinuric protein intolerance	direct	16	OMIM:222700;ORPHA:470	100	16	0	0	0	84		OMIM:222700;ORPHA:470	100	16	0	0	0	84	
MONDO:0009159	Ehlers-Danlos syndrome, cardiac valvular type	direct	5	OMIM:225320;ORPHA:230851	51	5	0	0	0	46		OMIM:225320;ORPHA:230851	51	5	0	0	0	46	
MONDO:0009161	Ehlers-Danlos syndrome, dermatosparaxis type	direct	15	OMIM:225410;ORPHA:1901	71	12	0	3	0	59		OMIM:225410;ORPHA:1901	71	12	0	3	0	59	
MONDO:0009162	Ellis-van Creveld syndrome	direct	16	OMIM:225500;ORPHA:289	69	16	0	0	0	53		OMIM:225500;ORPHA:289	69	16	0	0	0	53	
MONDO:0009212	congenital factor X deficiency	direct	14	OMIM:227600;ORPHA:328	22	13	0	1	0	9		OMIM:227600;ORPHA:328	22	13	0	1	0	9	
MONDO:0009216	glycogen storage disease due to GLUT2 deficiency	direct	11	OMIM:227810;ORPHA:2088	54	9	2	0	0	45		OMIM:227810;ORPHA:2088	54	9	2	0	0	45	
MONDO:0009218	Farber lipogranulomatosis	direct	14	OMIM:228000;ORPHA:333	85	14	0	0	0	71		OMIM:228000;ORPHA:333	85	14	0	0	0	71	
MONDO:0009232	Fuhrmann syndrome	direct	9	OMIM:228930	29	3	0	6	0	26		OMIM:228930	29	3	0	6	0	26	
MONDO:0009254	fucosidosis	direct	32	OMIM:230000;ORPHA:349	83	32	0	0	0	51		OMIM:230000;ORPHA:349	83	32	0	0	0	51	
MONDO:0009282	multiple acyl-CoA dehydrogenase deficiency	direct	15	OMIM:231680;ORPHA:26791	86	12	3	0	0	74		OMIM:231680;ORPHA:26791	86	12	3	0	0	74	
MONDO:0009290	glycogen storage disease II	direct	17	ORPHA:365	72	15	1	1	0	57		OMIM:232300;OMIM:621314;ORPHA:308552;ORPHA:365	109	17	0	0	0	92	
MONDO:0009293	glycogen storage disease V	direct	9	OMIM:232600;ORPHA:368	34	6	0	3	0	28		OMIM:232600;ORPHA:368	34	6	0	3	0	28	
MONDO:0009294	glycogen storage disease VI	direct	11	OMIM:232700;ORPHA:369	34	9	1	1	0	25		OMIM:232700;ORPHA:369	34	9	1	1	0	25	
MONDO:0009297	familial renal glucosuria	direct	2	OMIM:233100;ORPHA:69076	14	2	0	0	0	12		OMIM:233100;ORPHA:69076	14	2	0	0	0	12	
MONDO:0009303	anti-glomerular basement membrane disease	direct	7	OMIM:233450;ORPHA:375	47	6	1	0	0	41		OMIM:233450;ORPHA:375	47	6	1	0	0	41	
MONDO:0009319	pantothenate kinase-associated neurodegeneration	direct	9	OMIM:234200;ORPHA:157850	95	7	1	1	0	88		OMIM:234200;ORPHA:157850;ORPHA:216866;ORPHA:216873	120	8	1	0	0	112	
MONDO:0009324	Hartnup disease	direct	21	OMIM:234500;ORPHA:2116	39	21	0	0	0	18		OMIM:234500;ORPHA:2116	39	21	0	0	0	18	
MONDO:0009341	Mowat-Wilson syndrome	direct	10	OMIM:235730;ORPHA:2152	166	6	2	2	0	160		OMIM:235730;ORPHA:2152;ORPHA:261537;ORPHA:261552	206	8	2	0	0	198	
MONDO:0009348	classic Hodgkin lymphoma	direct	4	OMIM:236000;ORPHA:391	36	4	0	0	0	32		OMIM:236000;ORPHA:391	36	4	0	0	0	32	
MONDO:0009379	Rotor syndrome	direct	2	OMIM:237450;ORPHA:3111	11	2	0	0	0	9		OMIM:237450;ORPHA:3111	11	2	0	0	0	9	
MONDO:0009380	Dubin-Johnson syndrome	direct	2	OMIM:237500;ORPHA:234	12	2	0	0	0	10		OMIM:237500;ORPHA:234	12	2	0	0	0	10	
MONDO:0009393	ornithine translocase deficiency	direct	40	OMIM:238970;ORPHA:415	58	40	0	0	0	18		OMIM:238970;ORPHA:415	58	40	0	0	0	18	
MONDO:0009400	hyperprolinemia type 1	direct	6	OMIM:239500;ORPHA:419	21	5	0	1	0	16		OMIM:239500;ORPHA:419	21	5	0	1	0	16	
MONDO:0009479	Johanson-Blizzard syndrome	direct	13	OMIM:243800;ORPHA:2315	92	11	1	1	0	81		OMIM:243800;ORPHA:2315	92	11	1	1	0	81	
MONDO:0009495	Keutel syndrome	direct	14	OMIM:245150;ORPHA:85202	52	13	1	0	0	39		OMIM:245150;ORPHA:85202	52	13	1	0	0	39	
MONDO:0009610	3-methylglutaconic aciduria type 1	direct	8	OMIM:250950;ORPHA:67046	35	8	0	0	0	27		OMIM:250950;ORPHA:67046	35	8	0	0	0	27	
MONDO:0009662	mucopolysaccharidosis type 7	direct	9	OMIM:253220;ORPHA:584	82	8	1	0	0	74		OMIM:253220;ORPHA:584	82	8	1	0	0	74	
MONDO:0009668	lethal multiple pterygium syndrome	direct	8	OMIM:253290	26	5	2	1	0	21		OMIM:253290;OMIM:312150	28	5	2	1	0	23	
MONDO:0009688	myasthenia gravis	direct	38	OMIM:254200;ORPHA:589	54	38	0	0	0	16		OMIM:159400;OMIM:254200;ORPHA:589	61	38	0	0	0	23	
MONDO:0009691	mycosis fungoides	direct	4	OMIM:254400;ORPHA:2584	30	3	0	1	0	27		OMIM:254400;ORPHA:2584	30	3	0	1	0	27	
MONDO:0009692	primary myelofibrosis	direct	29	OMIM:254450;ORPHA:824	40	29	0	0	0	11		OMIM:254450;ORPHA:824	40	29	0	0	0	11	
MONDO:0009722	Bailey-Bloch congenital myopathy	direct	14	OMIM:255995;ORPHA:168572	61	13	0	1	0	48		OMIM:255995;ORPHA:168572	61	13	0	1	0	48	
MONDO:0009723	Leigh syndrome	direct	14	OMIM:256000;ORPHA:506	115	11	1	2	0	104		OMIM:161700;OMIM:220111;OMIM:256000;ORPHA:255210;ORPHA:506;ORPHA:70472	236	11	3	0	0	225	
MONDO:0009727	atelosteogenesis type II	direct	30	OMIM:256050;ORPHA:56304	72	29	0	1	0	43		OMIM:256050;ORPHA:56304	72	29	0	1	0	43	
MONDO:0009735	Netherton syndrome	direct	7	OMIM:256500;ORPHA:634	163	7	0	0	0	156		OMIM:256500;ORPHA:634	163	7	0	0	0	156	
MONDO:0009813	chronic recurrent multifocal osteomyelitis	direct	5	ORPHA:324964	27	4	1	0	0	23		OMIM:259680;OMIM:609628;OMIM:612852;ORPHA:324964;ORPHA:77297	80	4	1	0	0	76	
MONDO:0009823	primary hyperoxaluria type 1	direct	4	OMIM:259900;ORPHA:93598	45	4	0	0	0	41		OMIM:259900;ORPHA:93598	45	4	0	0	0	41	
MONDO:0009824	primary hyperoxaluria type 2	direct	4	OMIM:260000;ORPHA:93599	15	3	1	0	0	12		OMIM:260000;ORPHA:93599	15	3	1	0	0	12	
MONDO:0009861	phenylketonuria	direct	26	OMIM:261600;ORPHA:716	49	25	0	1	0	24		OMIM:261600;ORPHA:2209;ORPHA:716	76	25	0	1	0	51	
MONDO:0009891	acquired polycythemia vera	direct	26	OMIM:263300;ORPHA:729	50	26	0	0	0	24		OMIM:263300;ORPHA:729	50	26	0	0	0	24	
MONDO:0009904	Gitelman syndrome	direct	14	OMIM:263800;ORPHA:358	85	14	0	0	0	71		OMIM:263800;ORPHA:358	85	14	0	0	0	71	
MONDO:0009934	alveolar capillary dysplasia with misalignment of pulmonary veins	direct	6	OMIM:265380;ORPHA:210122	75	6	0	0	0	69		OMIM:265380;ORPHA:210122	75	6	0	0	0	69	
MONDO:0009940	pycnodysostosis	direct	21	OMIM:265800;ORPHA:763	73	17	3	1	0	56		OMIM:265800;ORPHA:763	73	17	3	1	0	56	
MONDO:0009950	pyruvate kinase deficiency of red cells	direct	8	OMIM:266200;ORPHA:766	29	7	0	1	0	22		OMIM:266200;ORPHA:766	29	7	0	1	0	22	
MONDO:0009953	leukocyte adhesion deficiency type II	direct	5	OMIM:266265;ORPHA:99843	88	4	1	0	0	84		OMIM:266265;ORPHA:99843	88	4	1	0	0	84	
MONDO:0009958	adult Refsum disease	direct	18	OMIM:266500;ORPHA:773	54	17	1	0	0	37		OMIM:266500;ORPHA:773	54	17	1	0	0	37	
MONDO:0009999	autosomal recessive Robinow syndrome	direct	15	OMIM:268310;ORPHA:1507	145	13	0	2	0	132		OMIM:268310;ORPHA:1507	145	13	0	2	0	132	
MONDO:0010006	Sandhoff disease	direct	6	OMIM:268800;ORPHA:796	48	6	0	0	0	42		OMIM:268800;ORPHA:309155;ORPHA:309162;ORPHA:309169;ORPHA:796	91	6	0	0	0	85	
MONDO:0010010	Schinzel-Giedion syndrome	direct	4	OMIM:269150;ORPHA:798	128	3	1	0	0	125		OMIM:269150;ORPHA:798	128	3	1	0	0	125	
MONDO:0010026	SHORT syndrome	direct	27	OMIM:269880;ORPHA:3163	77	23	3	1	0	54		OMIM:269880;ORPHA:3163	77	23	3	1	0	54	
MONDO:0010035	Smith-Lemli-Opitz syndrome	direct	8	OMIM:270400;ORPHA:818	181	5	1	2	0	176		OMIM:270400;ORPHA:818	181	5	1	2	0	176	
MONDO:0010052	spermatogenic failure 4	direct	3	OMIM:270960	5	2	0	1	0	3		OMIM:270960	5	2	0	1	0	3	
MONDO:0010060	mitochondrial DNA depletion syndrome 7 (hepatocerebral type)	direct	15	OMIM:271245;ORPHA:1186	42	11	2	2	0	31		OMIM:271245;ORPHA:1186	42	11	2	2	0	31	
MONDO:0010079	Canavan disease	direct	19	OMIM:271900;ORPHA:141	36	19	0	0	0	17		OMIM:271900;ORPHA:141;ORPHA:314911;ORPHA:314918	69	19	0	0	0	50	
MONDO:0010099	Tay-Sachs disease AB variant	direct	6	OMIM:272750;ORPHA:309246	40	5	1	0	0	35		OMIM:272750;ORPHA:309246	40	5	1	0	0	35	
MONDO:0010137	thyroid dyshormonogenesis 5	direct	2	OMIM:274900	6	1	1	0	0	5		OMIM:274900	6	1	1	0	0	5	
MONDO:0010184	methylmalonic aciduria and homocystinuria type cblC	direct	6	OMIM:277400;ORPHA:79282	113	6	0	0	0	107		OMIM:277400;ORPHA:79282	113	6	0	0	0	107	
MONDO:0010277	syndromic X-linked intellectual disability Shashi type	direct	10	OMIM:300238;ORPHA:85286	17	10	0	0	0	7		OMIM:300238;ORPHA:85286	17	10	0	0	0	7	
MONDO:0010279	terminal osseous dysplasia-pigmentary defects syndrome	direct	12	OMIM:300244;ORPHA:88630	45	11	1	0	0	34		OMIM:300244;ORPHA:88630	45	11	1	0	0	34	
MONDO:0010283	syndromic X-linked intellectual disability Lubs type	direct	11	OMIM:300260;ORPHA:1762	77	9	1	1	0	68		OMIM:300260;ORPHA:1762;ORPHA:293939	112	10	0	1	0	102	
MONDO:0010305	creatine transporter deficiency	direct	8	OMIM:300352;ORPHA:52503	60	6	0	2	0	54		OMIM:300352;ORPHA:52503	60	6	0	2	0	54	
MONDO:0010339	epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	direct	2	OMIM:300491;ORPHA:85294	8	2	0	0	0	6		OMIM:300491;ORPHA:85294	8	2	0	0	0	6	
MONDO:0010342	autism, susceptibility to, X-linked 3	direct	3	OMIM:300496	15	2	1	0	0	13		OMIM:300496	15	2	1	0	0	13	
MONDO:0010421	Bruton-type agammaglobulinemia	direct	18	OMIM:300755;ORPHA:47	67	17	0	1	0	50		OMIM:300755;ORPHA:47	67	17	0	1	0	50	
MONDO:0010478	SLC35A2-congenital disorder of glycosylation	direct	11	OMIM:300896;ORPHA:356961	109	9	1	1	0	100		OMIM:300896;ORPHA:356961	109	9	1	1	0	100	
MONDO:0010518	Wiskott-Aldrich syndrome	direct	29	OMIM:301000;ORPHA:906	123	29	0	0	0	94		OMIM:301000;ORPHA:906	123	29	0	0	0	94	
MONDO:0010557	choroideremia	direct	4	OMIM:303100;ORPHA:180	25	4	0	0	0	21		OMIM:303100;ORPHA:180	25	4	0	0	0	21	
MONDO:0010558	choroideremia-deafness-obesity syndrome	direct	7	OMIM:303110;ORPHA:1435	45	4	3	0	0	41		OMIM:303110;ORPHA:1435	45	4	3	0	0	41	
MONDO:0010561	Coffin-Lowry syndrome	direct	6	OMIM:303600;ORPHA:192	115	4	1	1	0	111		OMIM:303600;ORPHA:192	115	4	1	1	0	111	
MONDO:0010645	oculocerebrorenal syndrome	direct	10	OMIM:309000;ORPHA:534	152	7	2	1	0	145		OMIM:309000;ORPHA:534	152	7	2	1	0	145	
MONDO:0010647	spermatogenic failure, X-linked, 2	direct	2	OMIM:309120	6	2	0	0	0	4		OMIM:309120	6	2	0	0	0	4	
MONDO:0010679	Duchenne muscular dystrophy	direct	17	OMIM:310200;ORPHA:98896	41	17	0	0	0	24		OMIM:310200;ORPHA:98896	41	17	0	0	0	24	
MONDO:0010703	ornithine carbamoyltransferase deficiency	direct	13	OMIM:311250;ORPHA:664	51	12	0	1	0	39		OMIM:311250;ORPHA:664	51	12	0	1	0	39	
MONDO:0010725	X-linked retinoschisis	direct	5	OMIM:312700;ORPHA:792	22	3	2	0	0	19		OMIM:312700;ORPHA:792	22	3	2	0	0	19	
MONDO:0010726	Rett syndrome	direct	14	OMIM:312750;ORPHA:778	61	13	0	1	0	48		OMIM:312750;ORPHA:778	61	13	0	1	0	48	
MONDO:0010797	Pearson syndrome	direct	6	OMIM:557000;ORPHA:699	96	5	1	0	0	91		OMIM:557000;ORPHA:699	96	5	1	0	0	91	
MONDO:0010817	autosomal dominant nonsyndromic hearing loss 2A	direct	2	OMIM:600101	4	0	2	0	0	4		OMIM:600101	4	0	2	0	0	4	
MONDO:0010881	mesomelia-synostoses syndrome	direct	2	OMIM:600383;ORPHA:2496	63	2	0	0	0	61		OMIM:600383;ORPHA:2496	63	2	0	0	0	61	
MONDO:0010898	autosomal dominant epilepsy with auditory features	direct	6	ORPHA:101046	17	2	3	1	0	15		ORPHA:101046	17	2	3	1	0	15	
MONDO:0010947	Budd-Chiari syndrome	direct	18	OMIM:600880;ORPHA:131	27	18	0	0	0	9		OMIM:600880;ORPHA:131	27	18	0	0	0	9	
MONDO:0010962	diffuse nonepidermolytic palmoplantar keratoderma	direct	15	OMIM:600962;ORPHA:530838	17	15	0	0	0	2		OMIM:600962;ORPHA:530838	17	15	0	0	0	2	
MONDO:0010979	Timothy syndrome	direct	8	OMIM:601005	30	4	1	3	0	26		OMIM:601005	30	4	1	3	0	26	
MONDO:0010998	ALG3-congenital disorder of glycosylation	direct	17	OMIM:601110;ORPHA:79321	78	9	7	1	0	69		OMIM:601110;ORPHA:79321	78	9	7	1	0	69	
MONDO:0011017	Naxos disease	direct	8	OMIM:601214;ORPHA:34217	40	6	2	0	0	34		OMIM:601214;ORPHA:34217	40	6	2	0	0	34	
MONDO:0011035	neurofibromatosis-Noonan syndrome	direct	12	OMIM:601321;ORPHA:638	46	12	0	0	0	34		OMIM:193520;OMIM:601321;ORPHA:638	51	12	0	0	0	39	
MONDO:0011095	dilated cardiomyopathy 1D	direct	2	OMIM:601494	18	2	0	0	0	16		OMIM:601494	18	2	0	0	0	16	
MONDO:0011103	autosomal dominant nonsyndromic hearing loss 3A	direct	2	OMIM:601544	2	0	2	0	0	2		OMIM:601544	2	0	2	0	0	2	
MONDO:0011159	autosomal dominant nonsyndromic hearing loss 13	direct	1	OMIM:601868	2	1	0	0	0	1		OMIM:601868	2	1	0	0	0	1	
MONDO:0011202	RHYNS syndrome	direct	10	OMIM:602152;ORPHA:140976	38	7	2	1	0	31		OMIM:602152;ORPHA:140976	38	7	2	1	0	31	
MONDO:0011264	torsion dystonia 6	direct	7	OMIM:602629;ORPHA:98806	18	7	0	0	0	11		OMIM:602629;ORPHA:98806	18	7	0	0	0	11	
MONDO:0011274	Muenke syndrome	direct	6	OMIM:602849;ORPHA:53271	47	6	0	0	0	41		OMIM:602849;ORPHA:53271	47	6	0	0	0	41	
MONDO:0011510	Bohring-Opitz syndrome	direct	15	OMIM:605039;ORPHA:97297	116	15	0	0	0	101		OMIM:605039;ORPHA:97297	116	15	0	0	0	101	
MONDO:0011530	mesomelic dysplasia, Savarirayan type	direct	3	OMIM:605274;ORPHA:85170	32	3	0	0	0	29		OMIM:605274;ORPHA:85170	32	3	0	0	0	29	
MONDO:0011533	temtamy preaxial brachydactyly syndrome	direct	21	OMIM:605282;ORPHA:363417	64	16	3	2	0	48		OMIM:605282;ORPHA:363417	64	16	3	2	0	48	
MONDO:0011541	dilated cardiomyopathy 1J	direct	5	OMIM:605362;ORPHA:217622	10	2	3	0	0	8		OMIM:605362;ORPHA:217622	10	2	3	0	0	8	
MONDO:0011551	TH-deficient dopa-responsive dystonia	direct	32	OMIM:605407;ORPHA:101150	40	32	0	0	0	8		OMIM:605407;ORPHA:101150	40	32	0	0	0	8	
MONDO:0011553	autosomal recessive nonsyndromic hearing loss 26	direct	2	OMIM:605428	2	0	2	0	0	2		OMIM:605428	2	0	2	0	0	2	
MONDO:0011581	arrhythmogenic cardiomyopathy with wooly hair and keratoderma	direct	8	OMIM:605676;ORPHA:65282	26	5	2	1	0	21		OMIM:605676;ORPHA:65282	26	5	2	1	0	21	
MONDO:0011582	multiple mitochondrial dysfunctions syndrome 1	direct	15	OMIM:605711;ORPHA:401869	49	13	2	0	0	36		OMIM:605711;ORPHA:401869	49	13	2	0	0	36	
MONDO:0011610	dimethylglycine dehydrogenase deficiency	direct	3	OMIM:605850;ORPHA:243343	8	3	0	0	0	5		OMIM:602079;OMIM:605850;ORPHA:243343;ORPHA:468726	23	3	0	0	0	20	
MONDO:0011638	neuroferritinopathy	direct	8	OMIM:606159;ORPHA:157846	61	6	1	1	0	55		OMIM:606159;ORPHA:157846	61	6	1	1	0	55	
MONDO:0011640	genitopatellar syndrome	direct	10	OMIM:606170;ORPHA:85201	65	6	1	3	0	59		OMIM:606170;ORPHA:85201	65	6	1	3	0	59	
MONDO:0011671	Huntington disease-like 2	direct	4	OMIM:606438;ORPHA:98934	32	4	0	0	0	28		OMIM:606438;ORPHA:98934	32	4	0	0	0	28	
MONDO:0011694	spinocerebellar ataxia type 15/16	direct	7	OMIM:606658;ORPHA:98769	43	6	1	0	0	37		OMIM:606658;ORPHA:98769	43	6	1	0	0	37	
MONDO:0011758	Hurler syndrome	direct	16	OMIM:607014;ORPHA:93473	102	15	1	0	0	87		OMIM:607014;ORPHA:93473	102	15	1	0	0	87	
MONDO:0011762	autosomal recessive nonsyndromic hearing loss 22	direct	5	OMIM:607039	2	0	5	0	0	2		OMIM:607039	2	0	5	0	0	2	
MONDO:0011778	multiple epiphyseal dysplasia, Al-Gazali type	direct	3	OMIM:607131;ORPHA:166024	39	3	0	0	0	36		OMIM:607131;ORPHA:166024	39	3	0	0	0	36	
MONDO:0011783	ALG12-congenital disorder of glycosylation	direct	14	OMIM:607143;ORPHA:79324	119	6	2	6	0	113		OMIM:607143;ORPHA:79324	119	6	2	6	0	113	
MONDO:0011811	autosomal recessive cerebellar ataxia-saccadic intrusion syndrome	direct	6	OMIM:607317;ORPHA:95434	46	5	1	0	0	41		OMIM:607317;ORPHA:95434	46	5	1	0	0	41	
MONDO:0011812	Duane-radial ray syndrome	direct	27	OMIM:607323;ORPHA:959	81	26	0	1	0	55		OMIM:607323;ORPHA:959	81	26	0	1	0	55	
MONDO:0011835	sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	direct	10	OMIM:607459;ORPHA:70595	80	9	0	1	0	71		OMIM:607459;ORPHA:254881;ORPHA:70595	97	9	0	1	0	88	
MONDO:0011871	Niemann-Pick disease type B	direct	7	OMIM:607616;ORPHA:77293	65	6	1	0	0	59		OMIM:607616;ORPHA:77293	65	6	1	0	0	59	
MONDO:0011979	adult-onset foveomacular vitelliform dystrophy	direct	5	ORPHA:99000	9	1	4	0	0	8		OMIM:153840;OMIM:608161;OMIM:616151;OMIM:616152;ORPHA:99000	25	5	0	0	0	20	
MONDO:0012020	chromosome 22q11.2 microduplication syndrome	direct	4	OMIM:608363;ORPHA:1727	49	1	1	2	0	48		OMIM:608363;ORPHA:1727;ORPHA:261337	89	1	1	2	0	88	
MONDO:0012084	aromatic L-amino acid decarboxylase deficiency	direct	41	OMIM:608643;ORPHA:35708	62	41	0	0	0	21		OMIM:608643;ORPHA:35708	62	41	0	0	0	21	
MONDO:0012105	granulomatosis with polyangiitis	direct	66	OMIM:608710;ORPHA:900	98	63	3	0	0	35		OMIM:608710;ORPHA:183;ORPHA:900	129	63	3	0	0	66	
MONDO:0012117	ALG9-congenital disorder of glycosylation	direct	17	OMIM:608776;ORPHA:79328	108	16	0	1	0	92		OMIM:263210;OMIM:608776;ORPHA:79328	117	16	0	1	0	101	
MONDO:0012160	spondylometaphyseal dysplasia-cone-rod dystrophy syndrome	direct	8	OMIM:608940;ORPHA:85167	61	7	0	1	0	54		OMIM:608940;ORPHA:85167	61	7	0	1	0	54	
MONDO:0012222	alpha-N-acetylgalactosaminidase deficiency type 2	direct	7	OMIM:609242;ORPHA:79280	37	7	0	0	0	30		OMIM:609242;ORPHA:79280	37	7	0	0	0	30	
MONDO:0012354	platelet-type bleeding disorder 8	direct	3	OMIM:609821	8	2	0	1	0	6		OMIM:609821	8	2	0	1	0	6	
MONDO:0012496	Koolen-de Vries syndrome	direct	7	OMIM:610443;ORPHA:96169	120	5	2	0	0	115		OMIM:610443;ORPHA:96169	120	5	2	0	0	115	
MONDO:0012517	Gaucher disease due to saposin C deficiency	direct	2	OMIM:610539;ORPHA:309252	37	2	0	0	0	35		OMIM:610539;ORPHA:309252	37	2	0	0	0	35	
MONDO:0012532	hereditary hemorrhagic telangiectasia type 4	direct	3	OMIM:610655	23	1	0	2	0	22		OMIM:610655	23	1	0	2	0	22	
MONDO:0012574	Potocki-Lupski syndrome	direct	12	OMIM:610883;ORPHA:1713	62	7	3	2	0	55		OMIM:610883;ORPHA:1713	62	7	3	2	0	55	
MONDO:0012580	hereditary pulmonary alveolar proteinosis	direct	15	ORPHA:264675	15	15	0	0	0	0		OMIM:265120;OMIM:300770;OMIM:610913;OMIM:610921;OMIM:614370;OMIM:615486;ORPHA:217563;ORPHA:264675	86	15	0	0	0	71	
MONDO:0012581	osteogenesis imperfecta type 8	direct	5	OMIM:610915	29	1	2	2	0	28		OMIM:610915	29	1	2	2	0	28	
MONDO:0012589	Pitt-Hopkins syndrome	direct	9	OMIM:610954;ORPHA:2896	99	9	0	0	0	90		OMIM:610954;ORPHA:2896	99	9	0	0	0	90	
MONDO:0012658	brachydactyly type B2	direct	7	OMIM:611377;ORPHA:140908	26	5	0	2	0	21		OMIM:611377;ORPHA:140908	26	5	0	2	0	21	
MONDO:0012669	Legius syndrome	direct	4	OMIM:611431;ORPHA:137605	55	4	0	0	0	51		OMIM:611431;ORPHA:137605	55	4	0	0	0	51	
MONDO:0012727	Kawasaki disease	direct	39	ORPHA:2331	46	36	1	2	0	10		ORPHA:2331	46	36	1	2	0	10	
MONDO:0012735	Temple-Baraitser syndrome	direct	11	OMIM:611816;ORPHA:420561	63	11	0	0	0	52		OMIM:611816;ORPHA:420561	63	11	0	0	0	52	
MONDO:0012775	thrombocytopenia 4	direct	1	OMIM:612004	3	1	0	0	0	2		OMIM:612004	3	1	0	0	0	2	
MONDO:0012812	developmental and epileptic encephalopathy, 4	direct	10	OMIM:612164;ORPHA:599373	49	8	1	1	0	41		OMIM:612164;ORPHA:599373	49	8	1	1	0	41	
MONDO:0012853	Fontaine progeroid syndrome	direct	53	OMIM:612289;ORPHA:2095;ORPHA:2963	126	53	0	0	0	73		OMIM:612289;ORPHA:2095;ORPHA:2963	126	53	0	0	0	73	
MONDO:0012854	bilateral microtia-deafness-cleft palate syndrome	direct	4	OMIM:612290	9	3	0	1	0	6		OMIM:612290	9	3	0	1	0	6	
MONDO:0012883	acute promyelocytic leukemia	direct	9	OMIM:612376;ORPHA:520	39	9	0	0	0	30		OMIM:612376;ORPHA:520	39	9	0	0	0	30	
MONDO:0012912	pseudopseudohypoparathyroidism	direct	13	OMIM:612463;ORPHA:79445	27	13	0	0	0	14		OMIM:612463;ORPHA:79445	27	13	0	0	0	14	
MONDO:0012960	intellectual disability, autosomal dominant 5	direct	14	OMIM:612621;ORPHA:544254	54	8	5	1	0	46		OMIM:612621;ORPHA:544254	54	8	5	1	0	46	
MONDO:0012984	PHARC syndrome	direct	5	OMIM:612674	27	4	0	1	0	23		OMIM:612674	27	4	0	1	0	23	
MONDO:0013000	porphyria due to ALA dehydratase deficiency	direct	11	OMIM:612740;ORPHA:100924	53	11	0	0	0	42		OMIM:612740;ORPHA:100924	53	11	0	0	0	42	
MONDO:0013114	autosomal dominant nonsyndromic hearing loss 50	direct	2	OMIM:613074	5	1	1	0	0	4		OMIM:613074	5	1	1	0	0	4	
MONDO:0013171	purine nucleoside phosphorylase deficiency	direct	15	OMIM:613179;ORPHA:760	60	13	1	1	0	47		OMIM:613179;ORPHA:760	60	13	1	1	0	47	
MONDO:0013172	polymicrogyria with optic nerve hypoplasia	direct	13	ORPHA:250972	14	13	0	0	0	1		ORPHA:250972	14	13	0	0	0	1	
MONDO:0013184	congenital diarrhea 5 with tufting enteropathy	direct	5	OMIM:613217;ORPHA:92050	32	4	0	1	0	28		OMIM:613217;ORPHA:92050	32	4	0	1	0	28	
MONDO:0013198	dilated cardiomyopathy 1EE	direct	3	OMIM:613252	6	2	0	1	0	4		OMIM:613252	6	2	0	1	0	4	
MONDO:0013262	dilated cardiomyopathy 1S	direct	2	OMIM:613426	23	2	0	0	0	21		OMIM:613426	23	2	0	0	0	21	
MONDO:0013306	combined oxidative phosphorylation defect type 7	direct	9	OMIM:613559;ORPHA:254930	56	7	1	1	0	49		OMIM:613559;ORPHA:254930	56	7	1	1	0	49	
MONDO:0013327	primary hyperoxaluria type 3	direct	3	OMIM:613616;ORPHA:93600	11	3	0	0	0	8		OMIM:613616;ORPHA:93600	11	3	0	0	0	8	
MONDO:0013357	chromosome 17q11.2 deletion syndrome, 1.4Mb	direct	9	OMIM:613675;ORPHA:137634;ORPHA:97685	136	9	0	0	0	127		OMIM:613675;ORPHA:137634;ORPHA:97685	136	9	0	0	0	127	
MONDO:0013361	congenital prothrombin deficiency	direct	9	OMIM:613679;ORPHA:325	27	8	1	0	0	19		OMIM:613679;ORPHA:325	27	8	1	0	0	19	
MONDO:0013371	dilated cardiomyopathy 1U	direct	2	OMIM:613694	11	2	0	0	0	9		OMIM:613694	11	2	0	0	0	9	
MONDO:0013373	dilated cardiomyopathy 1V	direct	2	OMIM:613697	14	2	0	0	0	12		OMIM:613697	14	2	0	0	0	12	
MONDO:0013387	developmental and epileptic encephalopathy, 7	direct	6	OMIM:613720;ORPHA:439218	26	5	1	0	0	21		OMIM:613720;ORPHA:439218	26	5	1	0	0	21	
MONDO:0013433	primary sclerosing cholangitis	direct	4	ORPHA:171	51	4	0	0	0	47		OMIM:602114;ORPHA:171	56	4	0	0	0	52	
MONDO:0013460	osteogenesis imperfecta type 12	direct	6	OMIM:613849	30	3	1	2	0	27		OMIM:613849	30	3	1	2	0	27	
MONDO:0013479	dilated cardiomyopathy 1HH	direct	2	OMIM:613881	7	2	0	0	0	5		OMIM:613881	7	2	0	0	0	5	
MONDO:0013523	Nestor-Guillermo progeria syndrome	direct	5	OMIM:614008	49	2	0	3	0	47		OMIM:614008	49	2	0	3	0	47	
MONDO:0013585	hydrolethalus syndrome 2	direct	4	OMIM:614120	12	3	0	1	0	9		OMIM:614120	12	3	0	1	0	9	
MONDO:0013661	combined malonic and methylmalonic acidemia	direct	3	OMIM:614265;ORPHA:289504	28	3	0	0	0	25		OMIM:614265;ORPHA:289504	28	3	0	0	0	25	
MONDO:0013785	intellectual disability, autosomal recessive 34	direct	4	OMIM:614499	9	3	1	0	0	6		OMIM:614499	9	3	1	0	0	6	
MONDO:0013851	autosomal dominant aplasia and myelodysplasia	direct	4	OMIM:614675	6	3	1	0	0	3		OMIM:614675	6	3	1	0	0	3	
MONDO:0013863	combined immunodeficiency due to LRBA deficiency	direct	7	OMIM:614700	45	5	0	2	0	40		OMIM:614700	45	5	0	2	0	40	
MONDO:0013869	adenine phosphoribosyltransferase deficiency	direct	22	OMIM:614723;ORPHA:976	28	22	0	0	0	6		OMIM:614723;ORPHA:976	28	22	0	0	0	6	
MONDO:0013902	aortic valve disease 2	direct	7	OMIM:614823	14	4	1	2	0	10		OMIM:614823	14	4	1	2	0	10	
MONDO:0013924	osteogenesis imperfecta type 13	direct	9	OMIM:614856	40	7	0	2	0	33		OMIM:614856	40	7	0	2	0	33	
MONDO:0014051	cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2	direct	2	OMIM:615119	20	2	0	0	0	18		OMIM:615119	20	2	0	0	0	18	
MONDO:0014150	developmental and epileptic encephalopathy 94	direct	10	OMIM:615369	20	9	0	1	0	11		OMIM:615369	20	9	0	1	0	11	
MONDO:0014267	severe combined immunodeficiency due to IKK2 deficiency	direct	7	OMIM:615592	13	4	3	0	0	9		OMIM:615592	13	4	3	0	0	9	
MONDO:0014313	autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity	direct	4	OMIM:615707	13	1	1	2	0	12		OMIM:615707	13	1	1	2	0	12	
MONDO:0014332	hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	direct	6	OMIM:615751	30	6	0	0	0	24		OMIM:615751	30	6	0	0	0	24	
MONDO:0014341	complex cortical dysplasia with other brain malformations 6	direct	5	OMIM:615771	17	1	0	4	0	16		OMIM:615771	17	1	0	4	0	16	
MONDO:0014380	colobomatous microphthalmia-rhizomelic dysplasia syndrome	direct	4	OMIM:615877	27	3	0	1	0	24		OMIM:615877	27	3	0	1	0	24	
MONDO:0014382	Tatton-Brown-Rahman overgrowth syndrome	direct	4	OMIM:615879;ORPHA:404443	66	2	0	2	0	64		OMIM:615879;ORPHA:404443	66	2	0	2	0	64	
MONDO:0014386	platelet-type bleeding disorder 18	direct	2	OMIM:615888	9	0	0	2	0	9		OMIM:615888	9	0	0	2	0	9	
MONDO:0014464	progressive encephalopathy with leukodystrophy due to DECR deficiency	direct	22	OMIM:616034;ORPHA:431361	63	21	1	0	0	42		OMIM:616034;ORPHA:431361	63	21	1	0	0	42	
MONDO:0014469	autosomal recessive nonsyndromic hearing loss 103	direct	5	OMIM:616042	5	1	4	0	0	4		OMIM:616042	5	1	4	0	0	4	
MONDO:0014493	autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency	direct	6	OMIM:616100;ORPHA:436159	37	4	0	2	0	33		OMIM:616100;ORPHA:436159	37	4	0	2	0	33	
MONDO:0014517	generalized epilepsy with febrile seizures plus, type 9	direct	2	OMIM:616172	12	1	0	1	0	11		OMIM:616172	12	1	0	1	0	11	
MONDO:0014544	osteogenesis imperfecta type 16	direct	6	OMIM:616229	26	4	0	2	0	22		OMIM:616229	26	4	0	2	0	22	
MONDO:0014545	progressive myoclonic epilepsy type 8	direct	4	OMIM:616230	21	2	0	2	0	19		OMIM:616230	21	2	0	2	0	19	
MONDO:0014568	hereditary spastic paraplegia 73	direct	5	OMIM:616282;ORPHA:444099	25	4	1	0	0	21		OMIM:616282;ORPHA:444099	25	4	1	0	0	21	
MONDO:0014591	autosomal dominant Robinow syndrome 2	direct	8	OMIM:616331	73	6	0	2	0	67		OMIM:616331	73	6	0	2	0	67	
MONDO:0014592	microcephaly and chorioretinopathy 3	direct	7	OMIM:616335	10	5	0	2	0	5		OMIM:616335	10	5	0	2	0	5	
MONDO:0014598	developmental and epileptic encephalopathy, 31A	direct	4	OMIM:616346	22	2	2	0	0	20		OMIM:616346	22	2	2	0	0	20	
MONDO:0014606	intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	direct	27	OMIM:616364;ORPHA:468678	161	19	1	7	0	142		OMIM:616364;ORPHA:468678	161	19	1	7	0	142	
MONDO:0014611	multiple mitochondrial dysfunctions syndrome 4	direct	10	OMIM:616370;ORPHA:457406	32	9	0	1	0	23		OMIM:616370;ORPHA:457406	32	9	0	1	0	23	
MONDO:0014668	cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4	direct	3	OMIM:616501	16	3	0	0	0	13		OMIM:616501	16	3	0	0	0	13	
MONDO:0014672	osteogenesis imperfecta type 17	direct	8	OMIM:616507	25	4	0	4	0	21		OMIM:616507	25	4	0	4	0	21	
MONDO:0014732	leukodystrophy, hypomyelinating, 12	direct	9	OMIM:616683;ORPHA:466934	36	6	2	1	0	30		OMIM:616683;ORPHA:466934	36	6	2	1	0	30	
MONDO:0014739	autosomal recessive nonsyndromic hearing loss 97	direct	2	OMIM:616705	2	0	2	0	0	2		OMIM:616705	2	0	2	0	0	2	
MONDO:0014856	combined oxidative phosphorylation defect type 30	direct	8	OMIM:616974	29	7	0	1	0	22		OMIM:616974	29	7	0	1	0	22	
MONDO:0015066	neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade	direct	1	ORPHA:100079	30	0	0	1	0	30		ORPHA:100079	30	0	0	1	0	30	
MONDO:0015253	Diamond-Blackfan anemia	direct	8	ORPHA:124	59	6	1	1	0	53		OMIM:105650;OMIM:300946;OMIM:606164;OMIM:610629;OMIM:612527;OMIM:612528;OMIM:612561;OMIM:612562;OMIM:612563;OMIM:613308;OMIM:613309;OMIM:614900;OMIM:615550;OMIM:615909;OMIM:617408;OMIM:617409;OMIM:618310;OMIM:618312;OMIM:618313;OMIM:620072;OMIM:621262;ORPHA:124	220	7	1	0	0	213	
MONDO:0015263	Brugada syndrome	direct	5	ORPHA:130	12	2	3	0	0	10		OMIM:601144;OMIM:611777;OMIM:611875;OMIM:611876;OMIM:612838;OMIM:613119;OMIM:613120;OMIM:613123;OMIM:616399;ORPHA:130	31	3	2	0	0	28	
MONDO:0015281	atrial standstill	direct	9	ORPHA:1344	32	4	4	1	0	28		OMIM:108770;OMIM:615745;ORPHA:1344	46	6	3	0	0	40	
MONDO:0015374	primary central nervous system vasculitis	direct	17	ORPHA:140989	30	17	0	0	0	13		ORPHA:140989	30	17	0	0	0	13	
MONDO:0015484	cysticercosis	direct	4	ORPHA:1560	49	2	2	0	0	47		ORPHA:1560	49	2	2	0	0	47	
MONDO:0015541	hereditary hemophagocytic lymphohistiocytosis	direct	9	ORPHA:540	45	6	3	0	0	39		OMIM:214500;OMIM:267700;OMIM:603552;OMIM:603553;OMIM:607624;OMIM:608233;OMIM:608898;OMIM:613101;OMIM:614171;OMIM:618998;ORPHA:167;ORPHA:540;ORPHA:79477	212	8	1	0	0	204	
MONDO:0015766	cholera	direct	10	ORPHA:173	34	8	1	1	0	26		ORPHA:173	34	8	1	1	0	26	
MONDO:0015908	chromomycosis	direct	2	ORPHA:182	33	1	0	1	0	32		ORPHA:182	33	1	0	1	0	32	
MONDO:0015943	eosinophilic granulomatosis with polyangiitis	direct	25	ORPHA:183	66	21	2	2	0	45		ORPHA:183	66	21	2	2	0	45	
MONDO:0015987	scimitar syndrome	direct	6	ORPHA:185	39	5	1	0	0	34		ORPHA:185	39	5	1	0	0	34	
MONDO:0016027	benign neonatal seizures	direct	11	ORPHA:1949	17	11	0	0	0	6		OMIM:121200;OMIM:121201;OMIM:608217;ORPHA:1949	26	11	0	0	0	15	
MONDO:0016033	Cornelia de Lange syndrome	direct	34	ORPHA:199	100	33	0	1	0	67		OMIM:122470;OMIM:300590;OMIM:300882;OMIM:610759;OMIM:614701;OMIM:620568;ORPHA:199	250	34	0	0	0	216	
MONDO:0016102	subacute inflammatory demyelinating polyneuropathy	direct	3	ORPHA:206594	40	1	0	2	0	39		ORPHA:206594	40	1	0	2	0	39	
MONDO:0016158	narcolepsy-cataplexy syndrome	direct	5	ORPHA:2073	30	5	0	0	0	25		OMIM:161400;OMIM:609039;OMIM:614250;ORPHA:2073	38	5	0	0	0	33	
MONDO:0016241	alternating hemiplegia of childhood	direct	9	ORPHA:2131	63	6	1	2	0	57		OMIM:104290;OMIM:300200;OMIM:614820;ORPHA:2131;ORPHA:95702	107	7	0	2	0	100	
MONDO:0016264	autoimmune hepatitis	direct	5	ORPHA:2137	34	3	0	2	0	31		ORPHA:2137;ORPHA:562639	59	4	0	1	0	55	
MONDO:0016293	congenital stationary night blindness	direct	6	ORPHA:215	14	5	0	1	0	9		OMIM:163500;OMIM:257270;OMIM:258100;OMIM:300071;OMIM:310500;OMIM:610427;OMIM:610444;OMIM:610445;OMIM:613216;OMIM:613411;OMIM:613830;OMIM:614565;OMIM:615058;OMIM:616389;OMIM:617024;OMIM:618555;ORPHA:215;ORPHA:75382	48	6	0	0	0	42	
MONDO:0016370	Marchiafava-Bignami disease	direct	9	ORPHA:221074	50	8	0	1	0	42		ORPHA:221074	50	8	0	1	0	42	
MONDO:0016464	insulin-resistance syndrome type B	direct	8	ORPHA:2298	50	6	0	2	0	44		ORPHA:2298	50	6	0	2	0	44	
MONDO:0016466	asbestosis	direct	9	ORPHA:2302	35	7	2	0	0	28		ORPHA:2302	35	7	2	0	0	28	
MONDO:0016642	meningioma	direct	2	ORPHA:2495	74	2	0	0	0	72		OMIM:607174;ORPHA:2495	78	2	0	0	0	76	
MONDO:0016848	juvenile temporal arteritis	direct	2	ORPHA:26137	6	1	1	0	0	5		ORPHA:26137	6	1	1	0	0	5	
MONDO:0017242	cutaneous collagenous vasculopathy	direct	1	ORPHA:280779	10	0	1	0	0	10		ORPHA:280779	10	0	1	0	0	10	
MONDO:0017319	hereditary elliptocytosis	direct	18	ORPHA:288	23	18	0	0	0	5		OMIM:130600;OMIM:166900;OMIM:611804;OMIM:617948;ORPHA:288;ORPHA:98868	38	18	0	0	0	20	
MONDO:0017364	POEMS syndrome	direct	9	ORPHA:2905	51	6	1	2	0	45		ORPHA:2905	51	6	1	2	0	45	
MONDO:0017366	hereditary pheochromocytoma-paraganglioma	direct	5	ORPHA:29072	51	3	0	2	0	48		OMIM:115310;OMIM:168000;OMIM:601650;OMIM:605373;OMIM:614165;OMIM:618464;OMIM:618475;ORPHA:29072	74	4	1	0	0	70	
MONDO:0017380	juvenile polyposis syndrome	direct	10	OMIM:174900;ORPHA:2929	60	9	0	1	0	51		OMIM:174900;ORPHA:2929;ORPHA:329971;ORPHA:79076	83	9	0	1	0	74	
MONDO:0017615	benign familial infantile epilepsy	direct	4	ORPHA:306	32	4	0	0	0	28		OMIM:601764;OMIM:605751;OMIM:607745;OMIM:617080;ORPHA:140927;ORPHA:306	51	4	0	0	0	47	
MONDO:0017638	manganese poisoning	direct	5	ORPHA:306682	30	2	2	1	0	28		ORPHA:306682	30	2	2	1	0	28	
MONDO:0017844	Sezary syndrome	direct	4	ORPHA:3162	29	4	0	0	0	25		ORPHA:3162	29	4	0	0	0	25	
MONDO:0017851	erythrokeratodermia variabilis	direct	3	ORPHA:316;ORPHA:317	31	2	1	0	0	29		OMIM:133200;OMIM:617524;OMIM:617525;OMIM:617526;OMIM:617756;OMIM:618531;OMIM:619209;ORPHA:316;ORPHA:317;ORPHA:495	72	2	1	0	0	70	
MONDO:0017909	inherited glutathione synthetase deficiency	direct	6	ORPHA:32	14	4	1	1	0	10		OMIM:231900;OMIM:266130;ORPHA:32	23	5	1	0	0	18	
MONDO:0017979	autoimmune lymphoproliferative syndrome	direct	4	ORPHA:3261	72	4	0	0	0	68		OMIM:601859;OMIM:603909;OMIM:607271;OMIM:614470;OMIM:615559;OMIM:616100;ORPHA:3261;ORPHA:436159;ORPHA:457077	171	4	0	0	0	167	
MONDO:0017991	Takayasu arteritis	direct	52	OMIM:207600;ORPHA:3287	55	52	0	0	0	3		OMIM:207600;ORPHA:3287	55	52	0	0	0	3	
MONDO:0018044	idiopathic hypersomnia	direct	3	ORPHA:33208	11	3	0	0	0	8		ORPHA:33208	11	3	0	0	0	8	
MONDO:0018066	trisomy X	direct	11	ORPHA:3375	31	8	0	3	0	23		ORPHA:3375	31	8	0	3	0	23	
MONDO:0018077	tularemia	direct	5	ORPHA:3392	38	4	1	0	0	34		ORPHA:3392	38	4	1	0	0	34	
MONDO:0018088	familial Mediterranean fever	direct	7	ORPHA:342	50	6	1	0	0	44		OMIM:134610;OMIM:249100;ORPHA:342	71	7	0	0	0	64	
MONDO:0018097	infantile spasms	direct	7	ORPHA:697160	6	5	2	0	0	1		OMIM:300672;OMIM:308350;OMIM:613477;OMIM:613722;OMIM:615006;OMIM:616139;OMIM:616341;OMIM:617065;ORPHA:505652;ORPHA:697160	126	7	0	0	0	119	
MONDO:0018153	Erdheim-Chester disease	direct	7	ORPHA:35687	41	5	2	0	0	36		ORPHA:35687	41	5	2	0	0	36	
MONDO:0018155	lateral sclerosis	direct	4	ORPHA:35689	23	3	0	1	0	20		OMIM:606353;OMIM:611637;ORPHA:247604;ORPHA:35689	47	3	0	1	0	44	
MONDO:0018214	generalized epilepsy with febrile seizures plus	direct	7	ORPHA:36387	28	6	1	0	0	22		OMIM:604233;OMIM:604403;OMIM:607681;OMIM:609800;OMIM:613863;OMIM:616172;OMIM:618482;OMIM:620755;ORPHA:36387	48	6	1	0	0	42	
MONDO:0018360	neonatal lupus erythematosus	direct	11	ORPHA:398124	35	6	5	0	0	29		ORPHA:398124	35	6	5	0	0	29	
MONDO:0018469	pulmonary non-tuberculous mycobacterial infection	direct	9	ORPHA:411703	24	9	0	0	0	15		ORPHA:411703	24	9	0	0	0	15	
MONDO:0018470	renal agenesis	direct	6	ORPHA:411709	16	6	0	0	0	10		OMIM:191830;OMIM:615721;OMIM:617805;OMIM:619887;ORPHA:1848;ORPHA:411709	50	6	0	0	0	44	
MONDO:0018570	hypophosphatasia	direct	20	ORPHA:436	44	19	0	1	0	25		OMIM:146300;OMIM:241500;OMIM:241510;ORPHA:436	83	19	0	1	0	64	
MONDO:0018637	familial chylomicronemia syndrome	direct	6	ORPHA:444490	21	5	0	1	0	16		OMIM:118830;OMIM:207750;OMIM:238600;OMIM:246650;OMIM:615947;ORPHA:444490	44	6	0	0	0	38	
MONDO:0018669	snakebite envenomation	direct	4	ORPHA:449285	34	4	0	0	0	30		ORPHA:449285	34	4	0	0	0	30	
MONDO:0018767	severe primary trimethylaminuria	direct	3	OMIM:602079;ORPHA:468726	17	3	0	0	0	14		OMIM:602079;ORPHA:468726	17	3	0	0	0	14	
MONDO:0018800	Kallmann syndrome	direct	11	ORPHA:478	44	8	2	1	0	36		OMIM:147950;OMIM:244200;OMIM:308700;OMIM:610628;OMIM:612370;OMIM:612702;OMIM:614837;OMIM:614838;OMIM:614840;OMIM:614858;OMIM:614880;OMIM:614897;OMIM:615266;OMIM:615267;OMIM:615269;OMIM:615270;OMIM:615271;OMIM:616030;ORPHA:478	96	9	1	1	0	87	
MONDO:0018824	pyoderma gangrenosum	direct	6	ORPHA:48104	15	3	1	2	0	12		ORPHA:48104	15	3	1	2	0	12	
MONDO:0018837	postinfectious vasculitis	direct	10	ORPHA:48435	57	8	0	2	0	49		ORPHA:48435	57	8	0	2	0	49	
MONDO:0018852	achromatopsia	direct	8	ORPHA:49382	20	5	1	2	0	15		OMIM:216900;OMIM:262300;OMIM:303700;OMIM:610024;OMIM:613856;OMIM:616517;ORPHA:16;ORPHA:49382	49	7	1	0	0	42	
MONDO:0018864	Kikuchi-Fujimoto disease	direct	8	ORPHA:50918	50	7	0	1	0	43		ORPHA:50918	50	7	0	1	0	43	
MONDO:0018866	Aicardi-Goutieres syndrome	direct	30	ORPHA:51	72	30	0	0	0	42		OMIM:225750;OMIM:610181;OMIM:610329;OMIM:610333;OMIM:612952;OMIM:615010;OMIM:615846;OMIM:619486;OMIM:619487;ORPHA:51	195	30	0	0	0	165	
MONDO:0018875	Li-Fraumeni syndrome	direct	8	OMIM:151623;ORPHA:524	41	7	1	0	0	34		OMIM:151623;ORPHA:524	41	7	1	0	0	34	
MONDO:0018920	peripartum cardiomyopathy	direct	7	ORPHA:563	45	6	0	1	0	39		ORPHA:563	45	6	0	1	0	39	
MONDO:0018931	mucolipidosis type III, alpha/beta	direct	36	OMIM:252600;ORPHA:423461;ORPHA:577	108	36	0	0	0	72		OMIM:252600;ORPHA:423461;ORPHA:577	108	36	0	0	0	72	
MONDO:0018960	congenital primary megaureter	direct	8	ORPHA:617	10	4	4	0	0	6		ORPHA:617	10	4	4	0	0	6	
MONDO:0018963	hereditary methemoglobinemia	direct	13	ORPHA:621	26	13	0	0	0	13		OMIM:250790;OMIM:250800;OMIM:617971;OMIM:617973;ORPHA:621	46	13	0	0	0	33	
MONDO:0018975	neurofibromatosis type 1	direct	16	OMIM:162200;ORPHA:636	114	15	1	0	0	99		OMIM:162200;OMIM:162210;OMIM:613675;ORPHA:137634;ORPHA:363700;ORPHA:636;ORPHA:97685	236	16	0	0	0	220	
MONDO:0019107	Rh deficiency syndrome	direct	5	OMIM:268150;ORPHA:71275	22	4	0	1	0	18		OMIM:268150;ORPHA:71275	22	4	0	1	0	18	
MONDO:0019127	polymyositis	direct	19	ORPHA:732	60	18	0	1	0	42		ORPHA:221;ORPHA:732;ORPHA:93672	128	19	0	0	0	109	
MONDO:0019149	cholesteryl ester storage disease	direct	6	OMIM:278000;ORPHA:75234	45	5	0	1	0	40		OMIM:278000;ORPHA:75234	45	5	0	1	0	40	
MONDO:0019167	immunoglobulin A vasculitis	direct	6	ORPHA:761	34	4	2	0	0	30		ORPHA:761	34	4	2	0	0	30	
MONDO:0019171	familial long QT syndrome	direct	8	ORPHA:101016	12	7	0	1	0	5		OMIM:170390;OMIM:192500;OMIM:220400;OMIM:600919;OMIM:601005;OMIM:603830;OMIM:611818;OMIM:611819;OMIM:611820;OMIM:612347;OMIM:612955;OMIM:613485;OMIM:613688;OMIM:613693;OMIM:613695;OMIM:616247;OMIM:616249;OMIM:618447;OMIM:618782;ORPHA:101016;ORPHA:37553;ORPHA:90647	151	8	0	0	0	143	
MONDO:0019186	Q fever	direct	5	ORPHA:781	62	3	2	0	0	59		ORPHA:781	62	3	2	0	0	59	
MONDO:0019200	retinitis pigmentosa	direct	9	OMIM:268000;ORPHA:791	37	8	1	0	0	29		OMIM:120970;OMIM:180100;OMIM:180104;OMIM:180105;OMIM:180210;OMIM:268000;OMIM:268060;OMIM:300029;OMIM:300155;OMIM:300424;OMIM:301148;OMIM:312600;OMIM:312612;OMIM:400004;OMIM:600059;OMIM:600105;OMIM:600132;OMIM:600138;OMIM:600852;OMIM:601414;OMIM:601718;OMIM:602772;OMIM:606068;OMIM:607921;OMIM:608133;OMIM:608380;OMIM:609913;OMIM:609923;OMIM:610282;OMIM:610359;OMIM:610599;OMIM:611131;OMIM:612095;OMIM:612165;OMIM:612572;OMIM:612943;OMIM:613194;OMIM:613428;OMIM:613464;OMIM:613575;OMIM:613581;OMIM:613582;OMIM:613617;OMIM:613660;OMIM:613731;OMIM:613750;OMIM:613756;OMIM:613758;OMIM:613767;OMIM:613769;OMIM:613794;OMIM:613801;OMIM:613809;OMIM:613810;OMIM:613827;OMIM:613861;OMIM:613862;OMIM:613983;OMIM:614180;OMIM:614181;OMIM:614494;OMIM:614500;OMIM:615233;OMIM:615434;OMIM:615565;OMIM:615725;OMIM:615780;OMIM:615922;OMIM:616188;OMIM:616394;OMIM:616469;OMIM:616544;OMIM:616562;OMIM:617023;OMIM:617123;OMIM:617304;OMIM:617433;OMIM:617460;OMIM:617781;OMIM:617871;OMIM:618173;OMIM:618220;OMIM:618345;OMIM:618613;OMIM:618697;OMIM:618826;OMIM:619007;OMIM:619614;OMIM:619845;OMIM:620102;OMIM:620228;OMIM:620422;OMIM:620996;OMIM:621280;OMIM:621548;ORPHA:791	177	9	0	0	0	168	
MONDO:0019210	cutaneous neuroendocrine carcinoma	direct	2	ORPHA:79140	16	0	0	2	0	16		ORPHA:79140	16	0	0	2	0	16	
MONDO:0019264	alpha-N-acetylgalactosaminidase deficiency type 3	direct	10	ORPHA:79281	8	7	1	2	0	1		ORPHA:79281	8	7	1	2	0	1	
MONDO:0019339	47,XYY syndrome	direct	11	ORPHA:8	45	9	0	2	0	36		ORPHA:8	45	9	0	2	0	36	
MONDO:0019345	shigellosis	direct	5	ORPHA:810	46	4	0	1	0	42		ORPHA:810	46	4	0	1	0	42	
MONDO:0019350	hereditary spherocytosis	direct	28	ORPHA:822	27	27	1	0	0	0		OMIM:182900;OMIM:270970;OMIM:612653;OMIM:612690;OMIM:616649;ORPHA:822	38	28	0	0	0	10	
MONDO:0019355	adult-onset Still disease	direct	10	ORPHA:829	56	10	0	0	0	46		ORPHA:829	56	10	0	0	0	46	
MONDO:0019383	acute disseminated encephalomyelitis	direct	15	ORPHA:83597	53	11	0	4	0	42		ORPHA:83597	53	11	0	4	0	42	
MONDO:0019518	Waardenburg-Shah syndrome	direct	2	ORPHA:897	23	1	1	0	0	22		OMIM:277580;OMIM:613265;OMIM:613266;ORPHA:897	40	2	0	0	0	38	
MONDO:0019625	familial thoracic aortic aneurysm and aortic dissection	direct	2	ORPHA:91387	42	1	0	1	0	41		OMIM:132900;OMIM:611788;OMIM:613780;OMIM:615436;OMIM:616166;OMIM:617168;OMIM:619825;ORPHA:229;ORPHA:91387	83	2	0	0	0	81	
MONDO:0019682	congenital sialidosis type 2	direct	3	ORPHA:93400	42	2	1	0	0	40		ORPHA:93400	42	2	1	0	0	40	
MONDO:0020310	familial focal epilepsy with variable foci	direct	4	ORPHA:98820	26	2	1	1	0	24		OMIM:604364;OMIM:617116;OMIM:617118;OMIM:617935;ORPHA:98820	43	2	1	1	0	41	
MONDO:0020367	juvenile open angle glaucoma	direct	5	ORPHA:98977	15	3	1	1	0	12		OMIM:137750;OMIM:610535;ORPHA:98977	20	4	1	0	0	16	
MONDO:0020492	hemimegalencephaly	direct	6	ORPHA:99802	33	6	0	0	0	27		ORPHA:99802	33	6	0	0	0	27	
MONDO:0020723	vitamin D-dependent rickets, type 1A	direct	9	OMIM:264700	55	7	2	0	0	48		OMIM:264700	55	7	2	0	0	48	
MONDO:0021055	classic familial adenomatous polyposis	direct	16	ORPHA:733	45	13	3	0	0	32		ORPHA:261584;ORPHA:733	72	13	3	0	0	59	
MONDO:0024472	boutonneuse fever	direct	26	ORPHA:83313	26	26	0	0	0	0		ORPHA:83313	26	26	0	0	0	0	
MONDO:0030008	combined oxidative phosphorylation deficiency 42	direct	5	OMIM:618839	17	5	0	0	0	12		OMIM:618839	17	5	0	0	0	12	
MONDO:0030030	Nizon-Isidor syndrome	direct	6	OMIM:618872	45	4	0	2	0	41		OMIM:618872	45	4	0	2	0	41	
MONDO:0030043	congenital disorder of glycosylation, type IIt	direct	10	OMIM:618885	44	8	0	2	0	36		OMIM:618885	44	8	0	2	0	36	
MONDO:0030048	harderoporphyria	direct	4	OMIM:618892	15	2	1	1	0	13		OMIM:618892	15	2	1	1	0	13	
MONDO:0030437	congenital disorder of glycosylation, type IIw	direct	18	OMIM:619525	66	15	0	3	0	51		OMIM:619525	66	15	0	3	0	51	
MONDO:0030457	immunodeficiency 87 and autoimmunity	direct	6	OMIM:619573	60	3	1	2	0	57		OMIM:619573	60	3	1	2	0	57	
MONDO:0030484	immunodeficiency 89 and autoimmunity	direct	7	OMIM:619632	24	4	0	3	0	20		OMIM:619632	24	4	0	3	0	20	
MONDO:0030714	osteogenesis imperfecta, IIA 22	direct	6	OMIM:619795	20	6	0	0	0	14		OMIM:619795	20	6	0	0	0	14	
MONDO:0030724	hearing loss, autosomal dominant 84	direct	4	OMIM:619810	6	1	3	0	0	5		OMIM:619810	6	1	3	0	0	5	
MONDO:0030770	congenital disorder of deglycosylation 2	direct	3	OMIM:619775	35	2	0	1	0	33		OMIM:619775	35	2	0	1	0	33	
MONDO:0030861	osteogenesis imperfecta, type 21	direct	4	OMIM:619131	22	1	0	3	0	21		OMIM:619131	22	1	0	3	0	21	
MONDO:0032619	mitochondrial complex I deficiency, nuclear type 14	direct	3	OMIM:618236	17	2	0	1	0	15		OMIM:618236	17	2	0	1	0	15	
MONDO:0032628	mitochondrial complex I deficiency, nuclear type 24	direct	1	OMIM:618245	6	1	0	0	0	5		OMIM:618245	6	1	0	0	0	5	
MONDO:0032733	global developmental delay, progressive ataxia, and elevated glutamine	direct	4	OMIM:618412	9	4	0	0	0	5		OMIM:618412	9	4	0	0	0	5	
MONDO:0032802	hearing loss, autosomal dominant 37	direct	3	OMIM:618533	2	0	3	0	0	2		OMIM:618533	2	0	3	0	0	2	
MONDO:0032897	intellectual developmental disorder with hypotonia and behavioral abnormalities	direct	7	OMIM:618748	26	4	0	3	0	22		OMIM:618748	26	4	0	3	0	22	
MONDO:0032898	spermatogenic failure 43	direct	5	OMIM:618751	6	3	0	2	0	3		OMIM:618751	6	3	0	2	0	3	
MONDO:0033198	hearing loss, autosomal recessive 106	direct	4	OMIM:617637	2	0	4	0	0	2		OMIM:617637	2	0	4	0	0	2	
MONDO:0033372	developmental and epileptic encephalopathy, 63	direct	3	OMIM:617976	34	3	0	0	0	31		OMIM:617976	34	3	0	0	0	31	
MONDO:0033649	mitochondrial complex IV deficiency, nuclear type 14	direct	5	OMIM:619058	11	4	0	1	0	7		OMIM:619058	11	4	0	1	0	7	
MONDO:0033864	infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome	direct	7	OMIM:618218;ORPHA:522077	72	5	0	2	0	67		OMIM:618218;ORPHA:522077	72	5	0	2	0	67	
MONDO:0034145	oculocerebrodental syndrome	direct	7	OMIM:618440;ORPHA:557003	57	4	0	3	0	53		OMIM:618440;ORPHA:557003	57	4	0	3	0	53	
MONDO:0035423	primary triglyceride deposit cardiomyovasculopathy	direct	5	ORPHA:565612	28	2	1	2	0	26		ORPHA:565612	28	2	1	2	0	26	
MONDO:0044322	intellectual developmental disorder with neuropsychiatric features	direct	4	OMIM:617532	15	2	1	1	0	13		OMIM:617532	15	2	1	1	0	13	
MONDO:0049223	osteogenesis imperfecta, type 19	direct	8	OMIM:301014	18	4	0	4	0	14		OMIM:301014	18	4	0	4	0	14	
MONDO:0054591	Stankiewicz-Isidor syndrome	direct	12	OMIM:617516	89	6	1	5	0	83		OMIM:617516	89	6	1	5	0	83	
MONDO:0054601	pituitary adenoma 5, multiple types	direct	1	OMIM:617540	4	1	0	0	0	3		OMIM:617540	4	1	0	0	0	3	
MONDO:0054636	Skraban-Deardorff syndrome	direct	17	OMIM:617616;ORPHA:513456	95	16	1	0	0	79		OMIM:617616;ORPHA:513456	95	16	1	0	0	79	
MONDO:0054665	pituitary adenoma 3, multiple types	direct	3	OMIM:617686	9	2	0	1	0	7		OMIM:617686	9	2	0	1	0	7	
MONDO:0060622	neurodevelopmental disorder with severe motor impairment and absent language	direct	14	OMIM:617804	58	12	1	1	0	46		OMIM:617804	58	12	1	1	0	46	
MONDO:0100040	FOXG1 disorder	direct	36	OMIM:613454;ORPHA:561854	80	36	0	0	0	44		OMIM:613454;ORPHA:561854	80	36	0	0	0	44	
MONDO:0100339	Friedreich ataxia	direct	17	ORPHA:95	53	14	1	2	0	39		OMIM:229300;OMIM:601992;ORPHA:95	78	16	0	1	0	62	
MONDO:0100429	intrahepatic cholestasis of pregnancy	direct	4	ORPHA:69665	25	4	0	0	0	21		OMIM:147480;OMIM:614972;ORPHA:69665	31	4	0	0	0	27	
MONDO:0100566	myoclonic epilepsy in infancy	direct	4	ORPHA:86909	34	1	2	1	0	33		ORPHA:86909	34	1	2	1	0	33	
MONDO:0800043	Stüve-Wiedemann syndrome 1	direct	22	OMIM:601559;ORPHA:3206	112	17	4	1	0	95		OMIM:601559;ORPHA:3206	112	17	4	1	0	95	
MONDO:0800491	early-infantile DEE	direct	13	ORPHA:1934	63	6	4	3	0	57		OMIM:609304;OMIM:616341;OMIM:617105;ORPHA:1934	97	8	3	2	0	89	
MONDO:0850058	chronic neurovisceral acid sphingomyelinase deficiency	direct	4	ORPHA:618891	38	1	0	3	0	37		ORPHA:618891	38	1	0	3	0	37	
MONDO:0957997	diabetes, deafness, developmental delay, and short stature syndrome	direct	6	OMIM:620651	17	4	1	1	0	13		OMIM:620651	17	4	1	1	0	13	
MONDO:0958174	basal cell nevus syndrome 1	direct	4	OMIM:109400	52	3	0	1	0	49		OMIM:109400	52	3	0	1	0	49	
MONDO:0975798	methylmalonic aciduria and homocystinuria, cb1L type	direct	4	OMIM:620940	13	3	1	0	0	10		OMIM:620940	13	3	1	0	0	10	
MONDO:0975846	congenital disorder of glycosylation, type 1DD	direct	15	OMIM:301133	31	12	0	3	0	19		OMIM:301133	31	12	0	3	0	19	
MONDO:0976227	Charcot-Marie-tooth disease, axonal, type 2JJ	direct	4	OMIM:621095	33	1	1	2	0	32		OMIM:621095	33	1	1	2	0	32	
MONDO:0979227	Guillouet-Gordon syndrome	direct	8	OMIM:621220	196	5	0	3	0	191		OMIM:621220	196	5	0	3	0	191	
MONDO:0000001	disease	subtree_only	1									OMIM:100070;OMIM:100100;OMIM:100200;OMIM:100300;OMIM:100600;OMIM:100700;OMIM:100800;OMIM:100820;OMIM:101000;OMIM:101200;OMIM:101400;OMIM:101600;OMIM:101800;OMIM:101805;OMIM:101840;OMIM:101850;OMIM:101900;OMIM:102100;OMIM:102150;OMIM:102200;OMIM:102350;OMIM:102370;OMIM:102500;OMIM:102510;OMIM:102520;OMIM:102530;OMIM:102650;OMIM:102660;OMIM:102700;OMIM:102900;OMIM:103050;OMIM:103100;OMIM:103200;OMIM:103285;OMIM:103300;OMIM:103420;OMIM:103500;OMIM:103580;OMIM:103780;OMIM:103900;OMIM:103920;OMIM:104000;OMIM:104100;OMIM:104110;OMIM:104200;OMIM:104290;OMIM:104300;OMIM:104310;OMIM:104350;OMIM:104400;OMIM:104500;OMIM:104510;OMIM:104530;OMIM:105120;OMIM:105150;OMIM:105200;OMIM:105210;OMIM:105250;OMIM:105300;OMIM:105400;OMIM:105500;OMIM:105550;OMIM:105580;OMIM:105600;OMIM:105650;OMIM:105800;OMIM:105805;OMIM:105830;OMIM:105835;OMIM:106050;OMIM:106070;OMIM:106100;OMIM:106190;OMIM:106210;OMIM:106220;OMIM:106230;OMIM:106250;OMIM:106260;OMIM:106280;OMIM:106600;OMIM:106700;OMIM:106995;OMIM:107000;OMIM:107100;OMIM:107200;OMIM:107250;OMIM:107320;OMIM:107480;OMIM:107550;OMIM:107600;OMIM:107650;OMIM:107900;OMIM:107970;OMIM:108000;OMIM:108010;OMIM:108120;OMIM:108145;OMIM:108200;OMIM:108300;OMIM:108420;OMIM:108500;OMIM:108600;OMIM:108650;OMIM:108700;OMIM:108720;OMIM:108721;OMIM:108760;OMIM:108770;OMIM:108800;OMIM:108900;OMIM:108950;OMIM:108985;OMIM:109050;OMIM:109100;OMIM:109120;OMIM:109130;OMIM:109150;OMIM:109200;OMIM:109350;OMIM:109400;OMIM:109500;OMIM:109543;OMIM:109650;OMIM:109720;OMIM:109730;OMIM:109800;OMIM:109900;OMIM:110000;OMIM:110050;OMIM:110100;OMIM:110150;OMIM:112200;OMIM:112240;OMIM:112250;OMIM:112270;OMIM:112310;OMIM:112350;OMIM:112370;OMIM:112410;OMIM:112450;OMIM:112500;OMIM:112600;OMIM:112700;OMIM:112800;OMIM:113000;OMIM:113100;OMIM:113200;OMIM:113300;OMIM:113301;OMIM:113310;OMIM:113400;OMIM:113477;OMIM:113500;OMIM:113600;OMIM:113620;OMIM:113650;OMIM:113670;OMIM:113700;OMIM:113750;OMIM:113800;OMIM:113900;OMIM:113950;OMIM:113970;OMIM:114000;OMIM:114065;OMIM:114140;OMIM:114200;OMIM:114290;OMIM:114300;OMIM:114450;OMIM:114480;OMIM:114500;OMIM:114550;OMIM:114580;OMIM:114600;OMIM:114650;OMIM:114700;OMIM:114900;OMIM:115000;OMIM:115080;OMIM:115150;OMIM:115195;OMIM:115196;OMIM:115197;OMIM:115200;OMIM:115210;OMIM:115250;OMIM:115300;OMIM:115310;OMIM:115430;OMIM:115470;OMIM:115650;OMIM:115660;OMIM:115665;OMIM:115700;OMIM:115800;OMIM:115900;OMIM:116100;OMIM:116200;OMIM:116300;OMIM:116400;OMIM:116600;OMIM:116700;OMIM:116800;OMIM:116860;OMIM:116870;OMIM:116920;OMIM:117000;OMIM:117100;OMIM:117210;OMIM:117300;OMIM:117360;OMIM:117550;OMIM:117650;OMIM:117850;OMIM:117900;OMIM:118000;OMIM:118005;OMIM:118100;OMIM:118200;OMIM:118210;OMIM:118220;OMIM:118300;OMIM:118400;OMIM:118420;OMIM:118450;OMIM:118600;OMIM:118650;OMIM:118651;OMIM:118700;OMIM:118750;OMIM:118800;OMIM:118830;OMIM:119100;OMIM:119300;OMIM:119500;OMIM:119530;OMIM:119540;OMIM:119550;OMIM:119570;OMIM:119580;OMIM:119600;OMIM:119650;OMIM:119800;OMIM:119900;OMIM:119915;OMIM:120000;OMIM:120100;OMIM:120200;OMIM:120300;OMIM:120330;OMIM:120400;OMIM:120430;OMIM:120433;OMIM:120435;OMIM:120450;OMIM:120500;OMIM:120502;OMIM:120790;OMIM:120970;OMIM:121050;OMIM:121070;OMIM:121200;OMIM:121201;OMIM:121210;OMIM:121270;OMIM:121300;OMIM:121350;OMIM:121390;OMIM:121400;OMIM:121800;OMIM:121820;OMIM:121850;OMIM:121900;OMIM:122000;OMIM:122100;OMIM:122200;OMIM:122400;OMIM:122430;OMIM:122470;OMIM:122580;OMIM:122600;OMIM:122700;OMIM:122780;OMIM:122850;OMIM:122860;OMIM:122880;OMIM:123000;OMIM:123100;OMIM:123150;OMIM:123155;OMIM:123320;OMIM:123400;OMIM:123450;OMIM:123500;OMIM:123540;OMIM:123550;OMIM:123557;OMIM:123570;OMIM:123700;OMIM:123790;OMIM:124000;OMIM:124100;OMIM:124200;OMIM:124480;OMIM:124500;OMIM:124700;OMIM:124900;OMIM:124950;OMIM:125000;OMIM:125250;OMIM:125310;OMIM:125320;OMIM:125350;OMIM:125370;OMIM:125400;OMIM:125420;OMIM:125480;OMIM:125490;OMIM:125500;OMIM:125520;OMIM:125540;OMIM:125595;OMIM:125600;OMIM:125630;OMIM:125700;OMIM:125800;OMIM:125850;OMIM:125851;OMIM:125853;OMIM:125900;OMIM:126050;OMIM:126180;OMIM:126320;OMIM:126500;OMIM:126550;OMIM:126600;OMIM:126700;OMIM:126800;OMIM:126850;OMIM:126900;OMIM:126950;OMIM:127000;OMIM:127100;OMIM:127300;OMIM:127400;OMIM:127500;OMIM:127550;OMIM:127600;OMIM:127750;OMIM:127800;OMIM:128000;OMIM:128100;OMIM:128101;OMIM:128200;OMIM:128230;OMIM:128235;OMIM:128290;OMIM:128300;OMIM:128500;OMIM:128600;OMIM:128700;OMIM:128710;OMIM:128800;OMIM:128980;OMIM:129200;OMIM:129400;OMIM:129490;OMIM:129500;OMIM:129550;OMIM:129600;OMIM:129750;OMIM:129840;OMIM:129850;OMIM:129900;OMIM:130000;OMIM:130010;OMIM:130020;OMIM:130050;OMIM:130060;OMIM:130070;OMIM:130080;OMIM:130100;OMIM:130200;OMIM:130300;OMIM:130600;OMIM:130650;OMIM:130700;OMIM:130710;OMIM:130720;OMIM:130900;OMIM:131100;OMIM:131300;OMIM:131400;OMIM:131440;OMIM:131705;OMIM:131750;OMIM:131760;OMIM:131800;OMIM:131850;OMIM:131900;OMIM:131950;OMIM:131960;OMIM:132000;OMIM:132090;OMIM:132100;OMIM:132300;OMIM:132400;OMIM:132450;OMIM:132600;OMIM:132700;OMIM:132800;OMIM:132900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3177;OMIM:613179;OMIM:613192;OMIM:613193;OMIM:613194;OMIM:613195;OMIM:613204;OMIM:613205;OMIM:613206;OMIM:613211;OMIM:613215;OMIM:613216;OMIM:613217;OMIM:613224;OMIM:613225;OMIM:613227;OMIM:613229;OMIM:613235;OMIM:613237;OMIM:613243;OMIM:613244;OMIM:613251;OMIM:613252;OMIM:613254;OMIM:613255;OMIM:613265;OMIM:613266;OMIM:613267;OMIM:613268;OMIM:613270;OMIM:613280;OMIM:613282;OMIM:613285;OMIM:613286;OMIM:613287;OMIM:613291;OMIM:613307;OMIM:613308;OMIM:613309;OMIM:613310;OMIM:613312;OMIM:613313;OMIM:613319;OMIM:613320;OMIM:613325;OMIM:613327;OMIM:613328;OMIM:613329;OMIM:613330;OMIM:613339;OMIM:613341;OMIM:613345;OMIM:613347;OMIM:613348;OMIM:613355;OMIM:613364;OMIM:613370;OMIM:613371;OMIM:613375;OMIM:613376;OMIM:613382;OMIM:613385;OMIM:613388;OMIM:613390;OMIM:613391;OMIM:613392;OMIM:613398;OMIM:613402;OMIM:613404;OMIM:613406;OMIM:613411;OMIM:613412;OMIM:613424;OMIM:613426;OMIM:613428;OMIM:613435;OMIM:613443;OMIM:613444;OMIM:613451;OMIM:613453;OMIM:613454;OMIM:613456;OMIM:613457;OMIM:613458;OMIM:613464;OMIM:613470;OMIM:613471;OMIM:613477;OMIM:613480;OMIM:613485;OMIM:613488;OMIM:613489;OMIM:613490;OMIM:613493;OMIM:613494;OMIM:613495;OMIM:613496;OMIM:613500;OMIM:613501;OMIM:613502;OMIM:613506;OMIM:613507;OMIM:613509;OMIM:613517;OMIM:613530;OMIM:613544;OMIM:613546;OMIM:613550;OMIM:613554;OMIM:613558;OMIM:613559;OMIM:613561;OMIM:613563;OMIM:613564;OMIM:613571;OMIM:613573;OMIM:613575;OMIM:613576;OMIM:613581;OMIM:613582;OMIM:613587;OMIM:613603;OMIM:613604;OMIM:613606;OMIM:613608;OMIM:613610;OMIM:613611;OMIM:613612;OMIM:613615;OMIM:613616;OMIM:613617;OMIM:613618;OMIM:613625;OMIM:613628;OMIM:613630;OMIM:613638;OMIM:613640;OMIM:613641;OMIM:613642;OMIM:613646;OMIM:613647;OMIM:613652;OMIM:613657;OMIM:613658;OMIM:613659;OMIM:613660;OMIM:613661;OMIM:613662;OMIM:613668;OMIM:613670;OMIM:613671;OMIM:613672;OMIM:613673;OMIM:613674;OMIM:613675;OMIM:613676;OMIM:613677;OMIM:613678;OMIM:613679;OMIM:613680;OMIM:613681;OMIM:613684;OMIM:613685;OMIM:613686;OMIM:613688;OMIM:613689;OMIM:613690;OMIM:613693;OMIM:613694;OMIM:613695;OMIM:613697;OMIM:613702;OMIM:613703;OMIM:613704;OMIM:613705;OMIM:613706;OMIM:613707;OMIM:613708;OMIM:613710;OMIM:613717;OMIM:613718;OMIM:613720;OMIM:613721;OMIM:613722;OMIM:613723;OMIM:613724;OMIM:613728;OMIM:613730;OMIM:613731;OMIM:613735;OMIM:613736;OMIM:613737;OMIM:613743;OMIM:613744;OMIM:613750;OMIM:613751;OMIM:613752;OMIM:613756;OMIM:613757;OMIM:613758;OMIM:613759;OMIM:613762;OMIM:613763;OMIM:613765;OMIM:613767;OMIM:613769;OMIM:613776;OMIM:613779;OMIM:613780;OMIM:613783;OMIM:613789;OMIM:613790;OMIM:613791;OMIM:613792;OMIM:613794;OMIM:613795;OMIM:613796;OMIM:613800;OMIM:613801;OMIM:613803;OMIM:613804;OMIM:613805;OMIM:613807;OMIM:613808;OMIM:613809;OMIM:613810;OMIM:613811;OMIM:613812;OMIM:613818;OMIM:613819;OMIM:613820;OMIM:613823;OMIM:613824;OMIM:613825;OMIM:613826;OMIM:613827;OMIM:613829;OMIM:613830;OMIM:613834;OMIM:613835;OMIM:613837;OMIM:613838;OMIM:613839;OMIM:613843;OMIM:613845;OMIM:613848;OMIM:613849;OMIM:613850;OMIM:613854;OMIM:613855;OMIM:613856;OMIM:613857;OMIM:613860;OMIM:613861;OMIM:613862;OMIM:613863;OMIM:613865;OMIM:613869;OMIM:613870;OMIM:613873;OMIM:613874;OMIM:613876;OMIM:613877;OMIM:613881;OMIM:613882;OMIM:613884;OMIM:613885;OMIM:613886;OMIM:613887;OMIM:613908;OMIM:613909;OMIM:613912;OMIM:613913;OMIM:613916;OMIM:613925;OMIM:613926;OMIM:613930;OMIM:613933;OMIM:613938;OMIM:613943;OMIM:613949;OMIM:613950;OMIM:613951;OMIM:613953;OMIM:613954;OMIM:613955;OMIM:613956;OMIM:613957;OMIM:613958;OMIM:613960;OMIM:613969;OMIM:613970;OMIM:613977;OMIM:613978;OMIM:613980;OMIM:613981;OMIM:613982;OMIM:613983;OMIM:613985;OMIM:613986;OMIM:613987;OMIM:613988;OMIM:613989;OMIM:613990;OMIM:614008;OMIM:614017;OMIM:614018;OMIM:614019;OMIM:614020;OMIM:614021;OMIM:614022;OMIM:614023;OMIM:614025;OMIM:614028;OMIM:614033;OMIM:614034;OMIM:614035;OMIM:614037;OMIM:614038;OMIM:614039;OMIM:614042;OMIM:614049;OMIM:614050;OMIM:614052;OMIM:614053;OMIM:614055;OMIM:614063;OMIM:614065;OMIM:614066;OMIM:614067;OMIM:614069;OMIM:614072;OMIM:614073;OMIM:614074;OMIM:614075;OMIM:614076;OMIM:614077;OMIM:614078;OMIM:614080;OMIM:614082;OMIM:614083;OMIM:614089;OMIM:614091;OMIM:614096;OMIM:614097;OMIM:614098;OMIM:614099;OMIM:614100;OMIM:614101;OMIM:614102;OMIM:614103;OMIM:614104;OMIM:614105;OMIM:614111;OMIM:614113;OMIM:614114;OMIM:614115;OMIM:614116;OMIM:614120;OMIM:614128;OMIM:614129;OMIM:614131;OMIM:614134;OMIM:614135;OMIM:614149;OMIM:614152;OMIM:614153;OMIM:614156;OMIM:614160;OMIM:614162;OMIM:614164;OMIM:614165;OMIM:614167;OMIM:614170;OMIM:614171;OMIM:614172;OMIM:614173;OMIM:614175;OMIM:614180;OMIM:614181;OMIM:614185;OMIM:614186;OMIM:614187;OMIM:614188;OMIM:614190;OMIM:614195;OMIM:614196;OMIM:614198;OMIM:614199;OMIM:614200;OMIM:614201;OMIM:614202;OMIM:614203;OMIM:614204;OMIM:614205;OMIM:614207;OMIM:614208;OMIM:614209;OMIM:614211;OMIM:614213;OMIM:614219;OMIM:614222;OMIM:614224;OMIM:614225;OMIM:614226;OMIM:614227;OMIM:614228;OMIM:614229;OMIM:614230;OMIM:614231;OMIM:614233;OMIM:614237;OMIM:614238;OMIM:614249;OMIM:614250;OMIM:614254;OMIM:614255;OMIM:614256;OMIM:614257;OMIM:614261;OMIM:614262;OMIM:614265;OMIM:614266;OMIM:614278;OMIM:614279;OMIM:614284;OMIM:614286;OMIM:614292;OMIM:614293;OMIM:614294;OMIM:614296;OMIM:614298;OMIM:614299;OMIM:614300;OMIM:614302;OMIM:614303;OMIM:614305;OMIM:614306;OMIM:614307;OMIM:614321;OMIM:614322;OMIM:614323;OMIM:614324;OMIM:614325;OMIM:614326;OMIM:614327;OMIM:614328;OMIM:614329;OMIM:614331;OMIM:614332;OMIM:614333;OMIM:614335;OMIM:614337;OMIM:614338;OMIM:614340;OMIM:614341;OMIM:614342;OMIM:614343;OMIM:614344;OMIM:614345;OMIM:614346;OMIM:614347;OMIM:614350;OMIM:614369;OMIM:614370;OMIM:614372;OMIM:614373;OMIM:614376;OMIM:614377;OMIM:614378;OMIM:614379;OMIM:614380;OMIM:614381;OMIM:614385;OMIM:614388;OMIM:614399;OMIM:614402;OMIM:614407;OMIM:614409;OMIM:614414;OMIM:614415;OMIM:614416;OMIM:614417;OMIM:614418;OMIM:614420;OMIM:614422;OMIM:614424;OMIM:614429;OMIM:614430;OMIM:614431;OMIM:614432;OMIM:614433;OMIM:614434;OMIM:614435;OMIM:614436;OMIM:614437;OMIM:614438;OMIM:614441;OMIM:614450;OMIM:614455;OMIM:614456;OMIM:614457;OMIM:614458;OMIM:614462;OMIM:614464;OMIM:614465;OMIM:614468;OMIM:614470;OMIM:614473;OMIM:614474;OMIM:614475;OMIM:614480;OMIM:614482;OMIM:614483;OMIM:614485;OMIM:614486;OMIM:614487;OMIM:614491;OMIM:614492;OMIM:614493;OMIM:614494;OMIM:614495;OMIM:614496;OMIM:614497;OMIM:614498;OMIM:614499;OMIM:614500;OMIM:614501;OMIM:614504;OMIM:614507;OMIM:614508;OMIM:614514;OMIM:614520;OMIM:614521;OMIM:614524;OMIM:614526;OMIM:614527;OMIM:614541;OMIM:614557;OMIM:614558;OMIM:614559;OMIM:614561;OMIM:614563;OMIM:614564;OMIM:614565;OMIM:614569;OMIM:614575;OMIM:614576;OMIM:614582;OMIM:614583;OMIM:614588;OMIM:614592;OMIM:614594;OMIM:614595;OMIM:614602;OMIM:614607;OMIM:614608;OMIM:614609;OMIM:614613;OMIM:614614;OMIM:614615;OMIM:614616;OMIM:614617;OMIM:614618;OMIM:614619;OMIM:614621;OMIM:614622;OMIM:614623;OMIM:614628;OMIM:614629;OMIM:614640;OMIM:614643;OMIM:614650;OMIM:614651;OMIM:614652;OMIM:614653;OMIM:614654;OMIM:614662;OMIM:614665;OMIM:614669;OMIM:614671;OMIM:614672;OMIM:614673;OMIM:614674;OMIM:614675;OMIM:614676;OMIM:614678;OMIM:614679;OMIM:614684;OMIM:614687;OMIM:614688;OMIM:614691;OMIM:614699;OMIM:614700;OMIM:614701;OMIM:614702;OMIM:614706;OMIM:614707;OMIM:614714;OMIM:614723;OMIM:614727;OMIM:614728;OMIM:614732;OMIM:614736;OMIM:614739;OMIM:614740;OMIM:614741;OMIM:614742;OMIM:614743;OMIM:614744;OMIM:614748;OMIM:614749;OMIM:614750;OMIM:614751;OMIM:614753;OMIM:614756;OMIM:614779;OMIM:614782;OMIM:614800;OMIM:614807;OMIM:614808;OMIM:614809;OMIM:614813;OMIM:614814;OMIM:614815;OMIM:614816;OMIM:614817;OMIM:614819;OMIM:614820;OMIM:614822;OMIM:614823;OMIM:614826;OMIM:614830;OMIM:614831;OMIM:614832;OMIM:614833;OMIM:614837;OMIM:614838;OMIM:614839;OMIM:614840;OMIM:614841;OMIM:614842;OMIM:614844;OMIM:614845;OMIM:614846;OMIM:614851;OMIM:614852;OMIM:614856;OMIM:614857;OMIM:614858;OMIM:614859;OMIM:614860;OMIM:614861;OMIM:614862;OMIM:614863;OMIM:614866;OMIM:614867;OMIM:614868;OMIM:614870;OMIM:614871;OMIM:614872;OMIM:614873;OMIM:614874;OMIM:614876;OMIM:614877;OMIM:614878;OMIM:614879;OMIM:614880;OMIM:614881;OMIM:614882;OMIM:614883;OMIM:614885;OMIM:614886;OMIM:614887;OMIM:614889;OMIM:614895;OMIM:614896;OMIM:614897;OMIM:614898;OMIM:614899;OMIM:614900;OMIM:614915;OMIM:614916;OMIM:614920;OMIM:614921;OMIM:614922;OMIM:614923;OMIM:614924;OMIM:614926;OMIM:614927;OMIM:614928;OMIM:614929;OMIM:614931;OMIM:614932;OMIM:614934;OMIM:614935;OMIM:614936;OMIM:614937;OMIM:614940;OMIM:614941;OMIM:614944;OMIM:614945;OMIM:614946;OMIM:614947;OMIM:614954;OMIM:614959;OMIM:614961;OMIM:614962;OMIM:614963;OMIM:614969;OMIM:614970;OMIM:614972;OMIM:614974;OMIM:614976;OMIM:614979;OMIM:614980;OMIM:614990;OMIM:615005;OMIM:615006;OMIM:615007;OMIM:615008;OMIM:615009;OMIM:615010;OMIM:615011;OMIM:615022;OMIM:615023;OMIM:615024;OMIM:615025;OMIM:615026;OMIM:615028;OMIM:615030;OMIM:615031;OMIM:615033;OMIM:615034;OMIM:615035;OMIM:615040;OMIM:615041;OMIM:615042;OMIM:615043;OMIM:615048;OMIM:615058;OMIM:615059;OMIM:615065;OMIM:615066;OMIM:615067;OMIM:615071;OMIM:615072;OMIM:615073;OMIM:615074;OMIM:615075;OMIM:615080;OMIM:615081;OMIM:615083;OMIM:615084;OMIM:615085;OMIM:615092;OMIM:615095;OMIM:615102;OMIM:615107;OMIM:615108;OMIM:615109;OMIM:615112;OMIM:615113;OMIM:615119;OMIM:615120;OMIM:615122;OMIM:615127;OMIM:615134;OMIM:615135;OMIM:615139;OMIM:615145;OMIM:615147;OMIM:615155;OMIM:615156;OMIM:615157;OMIM:615158;OMIM:615159;OMIM:615160;OMIM:615162;OMIM:615163;OMIM:615170;OMIM:615179;OMIM:615181;OMIM:615182;OMIM:615184;OMIM:615185;OMIM:615188;OMIM:615190;OMIM:615191;OMIM:615193;OMIM:615198;OMIM:615206;OMIM:615207;OMIM:615214;OMIM:615217;OMIM:615219;OMIM:615220;OMIM:615222;OMIM:615224;OMIM:615225;OMIM:615226;OMIM:615228;OMIM:615233;OMIM:615234;OMIM:615235;OMIM:615236;OMIM:615237;OMIM:615238;OMIM:615244;OMIM:615248;OMIM:615249;OMIM:615266;OMIM:615267;OMIM:615268;OMIM:615269;OMIM:615270;OMIM:615271;OMIM:615272;OMIM:615273;OMIM:615274;OMIM:615277;OMIM:615278;OMIM:615279;OMIM:615280;OMIM:615281;OMIM:615282;OMIM:615284;OMIM:615285;OMIM:615286;OMIM:615287;OMIM:615290;OMIM:615293;OMIM:615294;OMIM:615297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M:617253;OMIM:617255;OMIM:617258;OMIM:617260;OMIM:617268;OMIM:617270;OMIM:617271;OMIM:617272;OMIM:617275;OMIM:617276;OMIM:617280;OMIM:617281;OMIM:617282;OMIM:617284;OMIM:617290;OMIM:617294;OMIM:617296;OMIM:617297;OMIM:617300;OMIM:617301;OMIM:617302;OMIM:617303;OMIM:617304;OMIM:617306;OMIM:617308;OMIM:617315;OMIM:617319;OMIM:617320;OMIM:617321;OMIM:617323;OMIM:617330;OMIM:617333;OMIM:617336;OMIM:617337;OMIM:617339;OMIM:617341;OMIM:617343;OMIM:617347;OMIM:617350;OMIM:617352;OMIM:617360;OMIM:617364;OMIM:617370;OMIM:617383;OMIM:617384;OMIM:617388;OMIM:617389;OMIM:617391;OMIM:617392;OMIM:617393;OMIM:617394;OMIM:617395;OMIM:617396;OMIM:617397;OMIM:617402;OMIM:617403;OMIM:617404;OMIM:617405;OMIM:617406;OMIM:617408;OMIM:617409;OMIM:617412;OMIM:617425;OMIM:617432;OMIM:617433;OMIM:617435;OMIM:617439;OMIM:617441;OMIM:617442;OMIM:617443;OMIM:617450;OMIM:617452;OMIM:617460;OMIM:617466;OMIM:617468;OMIM:617475;OMIM:617478;OMIM:617480;OMIM:617481;OMIM:617493;OMIM:617506;OMIM:617507;OMIM:617514;OMIM:617516;OMIM:617519;OMIM:617520;OMIM:617523;OMIM:617524;OMIM:617525;OMIM:617526;OMIM:617527;OMIM:617532;OMIM:617537;OMIM:617540;OMIM:617542;OMIM:617547;OMIM:617557;OMIM:617560;OMIM:617561;OMIM:617562;OMIM:617563;OMIM:617564;OMIM:617565;OMIM:617571;OMIM:617572;OMIM:617574;OMIM:617575;OMIM:617576;OMIM:617577;OMIM:617584;OMIM:617585;OMIM:617591;OMIM:617592;OMIM:617593;OMIM:617595;OMIM:617596;OMIM:617598;OMIM:617599;OMIM:617600;OMIM:617601;OMIM:617602;OMIM:617604;OMIM:617605;OMIM:617606;OMIM:617607;OMIM:617609;OMIM:617610;OMIM:617613;OMIM:617616;OMIM:617622;OMIM:617626;OMIM:617629;OMIM:617633;OMIM:617635;OMIM:617637;OMIM:617638;OMIM:617639;OMIM:617641;OMIM:617642;OMIM:617643;OMIM:617644;OMIM:617654;OMIM:617660;OMIM:617661;OMIM:617662;OMIM:617663;OMIM:617664;OMIM:617665;OMIM:617666;OMIM:617667;OMIM:617668;OMIM:617669;OMIM:617671;OMIM:617672;OMIM:617675;OMIM:617681;OMIM:617682;OMIM:617686;OMIM:617690;OMIM:617691;OMIM:617694;OMIM:617695;OMIM:617698;OMIM:617706;OMIM:617707;OMIM:617709;OMIM:617710;OMIM:617711;OMIM:617712;OMIM:617713;OMIM:617717;OMIM:617718;OMIM:617719;OMIM:617721;OMIM:617729;OMIM:617730;OMIM:617731;OMIM:617732;OMIM:617743;OMIM:617744;OMIM:617746;OMIM:617751;OMIM:617752;OMIM:617755;OMIM:617756;OMIM:617757;OMIM:617760;OMIM:617761;OMIM:617762;OMIM:617763;OMIM:617765;OMIM:617767;OMIM:617768;OMIM:617769;OMIM:617770;OMIM:617771;OMIM:617772;OMIM:617773;OMIM:617780;OMIM:617781;OMIM:617783;OMIM:617784;OMIM:617787;OMIM:617788;OMIM:617796;OMIM:617798;OMIM:617799;OMIM:617800;OMIM:617802;OMIM:617804;OMIM:617805;OMIM:617807;OMIM:617808;OMIM:617809;OMIM:617810;OMIM:617816;OMIM:617820;OMIM:617821;OMIM:617822;OMIM:617825;OMIM:617827;OMIM:617829;OMIM:617830;OMIM:617831;OMIM:617836;OMIM:617839;OMIM:617854;OMIM:617862;OMIM:617863;OMIM:617864;OMIM:617865;OMIM:617866;OMIM:617871;OMIM:617872;OMIM:617873;OMIM:617874;OMIM:617875;OMIM:617877;OMIM:617879;OMIM:617882;OMIM:617883;OMIM:617895;OMIM:617898;OMIM:617899;OMIM:617903;OMIM:617904;OMIM:617907;OMIM:617911;OMIM:617912;OMIM:617913;OMIM:617914;OMIM:617915;OMIM:617916;OMIM:617917;OMIM:617920;OMIM:617925;OMIM:617926;OMIM:617927;OMIM:617928;OMIM:617929;OMIM:617930;OMIM:617933;OMIM:617935;OMIM:617936;OMIM:617938;OMIM:617941;OMIM:617948;OMIM:617950;OMIM:617951;OMIM:617952;OMIM:617954;OMIM:617959;OMIM:617960;OMIM:617961;OMIM:617964;OMIM:617965;OMIM:617967;OMIM:617971;OMIM:617973;OMIM:617974;OMIM:617976;OMIM:617977;OMIM:617980;OMIM:617981;OMIM:617982;OMIM:617983;OMIM:617984;OMIM:617985;OMIM:617988;OMIM:617991;OMIM:617992;OMIM:617993;OMIM:617994;OMIM:617996;OMIM:618000;OMIM:618003;OMIM:618004;OMIM:618005;OMIM:618006;OMIM:618008;OMIM:618009;OMIM:618010;OMIM:618011;OMIM:618012;OMIM:618013;OMIM:618014;OMIM:618015;OMIM:618019;OMIM:618021;OMIM:618022;OMIM:618027;OMIM:618031;OMIM:618036;OMIM:618042;OMIM:618048;OMIM:618049;OMIM:618050;OMIM:618052;OMIM:618056;OMIM:618060;OMIM:618061;OMIM:618063;OMIM:618065;OMIM:618067;OMIM:618074;OMIM:618075;OMIM:618076;OMIM:618077;OMIM:618078;OMIM:618084;OMIM:618086;OMIM:618087;OMIM:618088;OMIM:618089;OMIM:618090;OMIM:618091;OMIM:618092;OMIM:618093;OMIM:618094;OMIM:618095;OMIM:618096;OMIM:618097;OMIM:618098;OMIM:618103;OMIM:618106;OMIM:618107;OMIM:618108;OMIM:618109;OMIM:618110;OMIM:618112;OMIM:618113;OMIM:618114;OMIM:618115;OMIM:618116;OMIM:618117;OMIM:618120;OMIM:618123;OMIM:618124;OMIM:618126;OMIM:618129;OMIM:618131;OMIM:618135;OMIM:618138;OMIM:618140;OMIM:618141;OMIM:618142;OMIM:618143;OMIM:618144;OMIM:618145;OMIM:618147;OMIM:618148;OMIM:618149;OMIM:618150;OMIM:618152;OMIM:618153;OMIM:618154;OMIM:618155;OMIM:618156;OMIM:618157;OMIM:618158;OMIM:618160;OMIM:618161;OMIM:618162;OMIM:618164;OMIM:618165;OMIM:618167;OMIM:618168;OMIM:618170;OMIM:618173;OMIM:618174;OMIM:618175;OMIM:618176;OMIM:618177;OMIM:618178;OMIM:618179;OMIM:618180;OMIM:618182;OMIM:618183;OMIM:618184;OMIM:618185;OMIM:618186;OMIM:618187;OMIM:618188;OMIM:618189;OMIM:618193;OMIM:618195;OMIM:618196;OMIM:618197;OMIM:618198;OMIM:618201;OMIM:618204;OMIM:618205;OMIM:618213;OMIM:618218;OMIM:618219;OMIM:618220;OMIM:618221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M:619783;OMIM:619784;OMIM:619785;OMIM:619786;OMIM:619787;OMIM:619789;OMIM:619790;OMIM:619793;OMIM:619795;OMIM:619797;OMIM:619799;OMIM:619802;OMIM:619803;OMIM:619804;OMIM:619805;OMIM:619806;OMIM:619808;OMIM:619810;OMIM:619813;OMIM:619814;OMIM:619816;OMIM:619817;OMIM:619824;OMIM:619825;OMIM:619826;OMIM:619827;OMIM:619828;OMIM:619831;OMIM:619832;OMIM:619833;OMIM:619834;OMIM:619835;OMIM:619836;OMIM:619840;OMIM:619841;OMIM:619844;OMIM:619845;OMIM:619846;OMIM:619847;OMIM:619849;OMIM:619851;OMIM:619854;OMIM:619855;OMIM:619858;OMIM:619859;OMIM:619862;OMIM:619864;OMIM:619867;OMIM:619868;OMIM:619869;OMIM:619871;OMIM:619872;OMIM:619873;OMIM:619874;OMIM:619876;OMIM:619877;OMIM:619878;OMIM:619879;OMIM:619880;OMIM:619881;OMIM:619884;OMIM:619887;OMIM:619895;OMIM:619897;OMIM:619902;OMIM:619903;OMIM:619908;OMIM:619909;OMIM:619910;OMIM:619911;OMIM:619913;OMIM:619921;OMIM:619922;OMIM:619924;OMIM:619927;OMIM:619931;OMIM:619934;OMIM:619935;OMIM:619937;OMIM:619938;OMIM:619941;OMIM:619947;OMIM:619949;OMIM:619950;OMIM:619951;OMIM:619955;OMIM:619957;OMIM:619959;OMIM:619964;OMIM:619966;OMIM:619967;OMIM:619970;OMIM:619971;OMIM:619972;OMIM:619975;OMIM:619977;OMIM:619980;OMIM:619981;OMIM:619983;OMIM:619985;OMIM:619986;OMIM:619988;OMIM:619989;OMIM:619991;OMIM:619995;OMIM:620001;OMIM:620005;OMIM:620007;OMIM:620009;OMIM:620010;OMIM:620011;OMIM:620012;OMIM:620014;OMIM:620015;OMIM:620019;OMIM:620021;OMIM:620022;OMIM:620023;OMIM:620024;OMIM:620025;OMIM:620027;OMIM:620028;OMIM:620029;OMIM:620032;OMIM:620033;OMIM:620038;OMIM:620040;OMIM:620044;OMIM:620045;OMIM:620047;OMIM:620049;OMIM:620056;OMIM:620058;OMIM:620062;OMIM:620065;OMIM:620066;OMIM:620067;OMIM:620068;OMIM:620070;OMIM:620071;OMIM:620072;OMIM:620073;OMIM:620075;OMIM:620076;OMIM:620080;OMIM:620083;OMIM:620084;OMIM:620085;OMIM:620086;OMIM:620089;OMIM:620094;OMIM:620098;OMIM:620099;OMIM:620102;OMIM:620103;OMIM:620104;OMIM:620106;OMIM:620107;OMIM:620111;OMIM:620113;OMIM:620114;OMIM:620115;OMIM:620125;OMIM:620126;OMIM:620133;OMIM:620135;OMIM:620137;OMIM:620138;OMIM:620139;OMIM:620141;OMIM:620145;OMIM:620148;OMIM:620149;OMIM:620150;OMIM:620151;OMIM:620152;OMIM:620153;OMIM:620154;OMIM:620155;OMIM:620156;OMIM:620157;OMIM:620158;OMIM:620161;OMIM:620166;OMIM:620167;OMIM:620170;OMIM:620173;OMIM:620174;OMIM:620177;OMIM:620183;OMIM:620184;OMIM:620185;OMIM:620186;OMIM:620189;OMIM:620191;OMIM:620192;OMIM:620193;OMIM:620194;OMIM:620195;OMIM:620196;OMIM:620197;OMIM:620198;OMIM:620199;OMIM:620200;OMIM:620201;OMIM:620203;OMIM:620208;OMIM:620210;OMIM:620211;OMIM:620221;OMIM:620222;OMIM:620224;OMIM:620227;OMIM:620228;OMIM:620231;OMIM:620232;OMIM:620233;OMIM:620236;OMIM:620237;OMIM:620238;OMIM:620240;OMIM:620242;OMIM:620243;OMIM:620244;OMIM:620245;OMIM:620246;OMIM:620247;OMIM:620249;OMIM:620250;OMIM:620253;OMIM:620265;OMIM:620269;OMIM:620270;OMIM:620275;OMIM:620276;OMIM:620277;OMIM:620278;OMIM:620280;OMIM:620281;OMIM:620282;OMIM:620283;OMIM:620284;OMIM:620285;OMIM:620286;OMIM:620292;OMIM:620294;OMIM:620296;OMIM:620300;OMIM:620303;OMIM:620305;OMIM:620306;OMIM:620310;OMIM:620311;OMIM:620312;OMIM:620313;OMIM:620314;OMIM:620315;OMIM:620316;OMIM:620317;OMIM:620319;OMIM:620320;OMIM:620321;OMIM:620322;OMIM:620323;OMIM:620326;OMIM:620327;OMIM:620330;OMIM:620331;OMIM:620332;OMIM:620333;OMIM:620342;OMIM:620343;OMIM:620344;OMIM:620351;OMIM:620352;OMIM:620353;OMIM:620354;OMIM:620356;OMIM:620357;OMIM:620358;OMIM:620359;OMIM:620364;OMIM:620365;OMIM:620366;OMIM:620367;OMIM:620368;OMIM:620369;OMIM:620370;OMIM:620371;OMIM:620372;OMIM:620374;OMIM:620375;OMIM:620376;OMIM:620378;OMIM:620379;OMIM:620383;OMIM:620384;OMIM:620386;OMIM:620389;OMIM:620393;OMIM:620398;OMIM:620400;OMIM:620401;OMIM:620402;OMIM:620409;OMIM:620411;OMIM:620415;OMIM:620416;OMIM:620417;OMIM:620422;OMIM:620423;OMIM:620425;OMIM:620427;OMIM:620428;OMIM:620430;OMIM:620438;OMIM:620439;OMIM:620443;OMIM:620444;OMIM:620445;OMIM:620447;OMIM:620448;OMIM:620449;OMIM:620450;OMIM:620451;OMIM:620452;OMIM:620453;OMIM:620454;OMIM:620455;OMIM:620456;OMIM:620457;OMIM:620458;OMIM:620459;OMIM:620460;OMIM:620461;OMIM:620462;OMIM:620465;OMIM:620469;OMIM:620470;OMIM:620475;OMIM:620478;OMIM:620481;OMIM:620482;OMIM:620483;OMIM:620484;OMIM:620486;OMIM:620489;OMIM:620490;OMIM:620494;OMIM:620499;OMIM:620500;OMIM:620501;OMIM:620502;OMIM:620504;OMIM:620507;OMIM:620510;OMIM:620511;OMIM:620512;OMIM:620514;OMIM:620515;OMIM:620519;OMIM:620528;OMIM:620532;OMIM:620534;OMIM:620535;OMIM:620536;OMIM:620537;OMIM:620538;OMIM:620540;OMIM:620542;OMIM:620545;OMIM:620546;OMIM:620547;OMIM:620548;OMIM:620550;OMIM:620551;OMIM:620558;OMIM:620565;OMIM:620568;OMIM:620569;OMIM:620570;OMIM:620576;OMIM:620583;OMIM:620601;OMIM:620602;OMIM:620603;OMIM:620606;OMIM:620607;OMIM:620609;OMIM:620610;OMIM:620629;OMIM:620632;OMIM:620635;OMIM:620636;OMIM:620639;OMIM:620641;OMIM:620642;OMIM:620646;OMIM:620647;OMIM:620651;OMIM:620653;OMIM:620654;OMIM:620655;OMIM:620657;OMIM:620658;OMIM:620659;OMIM:620662;OMIM:620663;OMIM:620666;OMIM:620668;OMIM:620669;OMIM:620670;OMIM:620674;OMIM:620675;OMIM:620679;OMIM:620680;OMIM:620681;OMIM:620683;OMIM:620686;OMIM:620687;OMIM:620688;OMIM:620690;OMIM:620698;OMIM:620699;OMIM:620700;OMIM:620703;OMIM:620704;OMIM:620705;OMIM:620707;OMIM:620711;OMIM:620712;OMIM:620714;OMIM:620715;OMIM:620718;OMIM:620719;OMIM:620722;OMIM:620725;OMIM:620726;OMIM:620727;OMIM:620728;OMIM:620729;OMIM:620731;OMIM:620732;OMIM:620734;OMIM:620744;OMIM:620745;OMIM:620746;OMIM:620747;OMIM:620748;OMIM:620755;OMIM:620757;OMIM:620762;OMIM:620763;OMIM:620767;OMIM:620771;OMIM:620772;OMIM:620774;OMIM:620775;OMIM:620776;OMIM:620777;OMIM:620779;OMIM:620780;OMIM:620782;OMIM:620783;OMIM:620784;OMIM:620785;OMIM:620786;OMIM:620789;OMIM:620790;OMIM:620792;OMIM:620793;OMIM:620794;OMIM:620795;OMIM:620796;OMIM:620806;OMIM:620807;OMIM:620813;OMIM:620814;OMIM:620815;OMIM:620816;OMIM:620817;OMIM:620818;OMIM:620819;OMIM:620820;OMIM:620825;OMIM:620830;OMIM:620836;OMIM:620838;OMIM:620840;OMIM:620848;OMIM:620849;OMIM:620850;OMIM:620851;OMIM:620852;OMIM:620854;OMIM:620865;OMIM:620869;OMIM:620877;OMIM:620880;OMIM:620887;OMIM:620888;OMIM:620894;OMIM:620897;OMIM:620901;OMIM:620903;OMIM:620908;OMIM:620910;OMIM:620911;OMIM:620917;OMIM:620926;OMIM:620931;OMIM:620937;OMIM:620938;OMIM:620939;OMIM:620940;OMIM:620943;OMIM:620947;OMIM:620950;OMIM:620952;OMIM:620953;OMIM:620958;OMIM:620960;OMIM:620962;OMIM:620964;OMIM:620968;OMIM:620969;OMIM:620971;OMIM:620977;OMIM:620978;OMIM:620983;OMIM:620984;OMIM:620985;OMIM:620987;OMIM:620988;OMIM:620990;OMIM:620991;OMIM:620996;OMIM:620999;OMIM:621001;OMIM:621002;OMIM:621004;OMIM:621010;OMIM:621012;OMIM:621016;OMIM:621018;OMIM:621021;OMIM:621030;OMIM:621032;OMIM:621034;OMIM:621049;OMIM:621056;OMIM:621057;OMIM:621060;OMIM:621063;OMIM:621065;OMIM:621067;OMIM:621068;OMIM:621071;OMIM:621078;OMIM:621079;OMIM:621080;OMIM:621091;OMIM:621093;OMIM:621094;OMIM:621095;OMIM:621096;OMIM:621097;OMIM:621099;OMIM:621100;OMIM:621101;OMIM:621102;OMIM:621106;OMIM:621122;OMIM:621123;OMIM:621124;OMIM:621125;OMIM:621129;OMIM:621130;OMIM:621140;OMIM:621150;OMIM:621152;OMIM:621154;OMIM:621160;OMIM:621169;OMIM:621170;OMIM:621179;OMIM:621180;OMIM:621182;OMIM:621184;OMIM:621185;OMIM:621191;OMIM:621192;OMIM:621194;OMIM:621195;OMIM:621196;OMIM:621199;OMIM:621201;OMIM:621209;OMIM:621212;OMIM:621214;OMIM:621220;OMIM:621224;OMIM:621225;OMIM:621226;OMIM:621231;OMIM:621232;OMIM:621233;OMIM:621234;OMIM:621235;OMIM:621237;OMIM:621248;OMIM:621250;OMIM:621251;OMIM:621252;OMIM:621254;OMIM:621258;OMIM:621259;OMIM:621260;OMIM:621261;OMIM:621262;OMIM:621263;OMIM:621265;OMIM:621268;OMIM:621269;OMIM:621270;OMIM:621277;OMIM:621280;OMIM:621285;OMIM:621295;OMIM:621302;OMIM:621304;OMIM:621307;OMIM:621311;OMIM:621313;OMIM:621314;OMIM:621325;OMIM:621328;OMIM:621331;OMIM:621332;OMIM:621333;OMIM:621337;OMIM:621343;OMIM:621344;OMIM:621345;OMIM:621354;OMIM:621367;OMIM:621369;OMIM:621371;OMIM:621372;OMIM:621373;OMIM:621375;OMIM:621377;OMIM:621379;OMIM:621381;OMIM:621382;OMIM:621384;OMIM:621386;OMIM:621387;OMIM:621390;OMIM:621393;OMIM:621394;OMIM:621400;OMIM:621402;OMIM:621405;OMIM:621407;OMIM:621409;OMIM:621414;OMIM:621415;OMIM:621417;OMIM:621421;OMIM:621424;OMIM:621431;OMIM:621433;OMIM:621434;OMIM:621435;OMIM:621436;OMIM:621439;OMIM:621440;OMIM:621446;OMIM:621449;OMIM:621452;OMIM:621455;OMIM:621456;OMIM:621457;OMIM:621460;OMIM:621466;OMIM:621468;OMIM:621469;OMIM:621471;OMIM:621474;OMIM:621475;OMIM:621481;OMIM:621482;OMIM:621485;OMIM:621487;OMIM:621488;OMIM:621490;OMIM:621495;OMIM:621499;OMIM:621500;OMIM:621506;OMIM:621507;OMIM:621510;OMIM:621511;OMIM:621512;OMIM:621523;OMIM:621525;OMIM:621528;OMIM:621533;OMIM:621535;OMIM:621539;OMIM:621548;OMIM:621552;OMIM:621556;ORPHA:10;ORPHA:100;ORPHA:1000;ORPHA:100006;ORPHA:100008;ORPHA:100024;ORPHA:100025;ORPHA:100026;ORPHA:100050;ORPHA:100057;ORPHA:100069;ORPHA:100070;ORPHA:100071;ORPHA:100073;ORPHA:100075;ORPHA:100078;ORPHA:100079;ORPHA:100080;ORPHA:100081;ORPHA:100082;ORPHA:100083;ORPHA:100084;ORPHA:100085;ORPHA:100086;ORPHA:100093;ORPHA:1001;ORPHA:1003;ORPHA:1005;ORPHA:1006;ORPHA:1008;ORPHA:100924;ORPHA:100973;ORPHA:100974;ORPHA:100976;ORPHA:100984;ORPHA:100985;ORPHA:100986;ORPHA:100988;ORPHA:100989;ORPHA:100991;ORPHA:100993;ORPHA:100994;ORPHA:100995;ORPHA:100996;ORPHA:100997;ORPHA:100998;ORPHA:100999;ORPHA:101;ORPHA:1010;ORPHA:101000;ORPHA:101001;ORPHA:101003;ORPHA:101004;ORPHA:101005;ORPHA:101006;ORPHA:101007;ORPHA:101008;ORPHA:101009;ORPHA:101010;ORPHA:101011;ORPHA:101016;ORPHA:101023;ORPHA:101028;ORPHA:101029;ORPHA:101030;ORPHA:101041;ORPHA:101046;ORPHA:101070;ORPHA:101071;ORPHA:101075;ORPHA:101076;ORPHA:101077;ORPHA:101078;ORPHA:101081;ORPHA:101082;ORPHA:101085;ORPHA:101097;ORPHA:101108;ORPHA:101109;ORPHA:101110;ORPHA:101111;ORPHA:101112;ORPHA:101150;ORPHA:101330;ORPHA:1014;ORPHA:1018;ORPHA:102;ORPHA:1020;ORPHA:1021;ORPHA:1028;ORPHA:1031;ORPHA:1035;ORPHA:103907;ORPHA:103909;ORPHA:103910;ORPHA:103918;ORPHA:104;ORPHA:1040;ORPHA:1041;ORPHA:1046;ORPHA:1048;ORPHA:105;ORPHA:1051;ORPHA:1052;ORPHA:1053;ORPHA:1054;ORPHA:1059;ORPHA:1062;ORPHA:1063;ORPHA:1064;ORPHA:1065;ORPHA:1067;ORPHA:1068;ORPHA:1069;ORPHA:107;ORPHA:1071;ORPHA:1072;ORPHA:1074;ORPHA:1077;ORPHA:1078;ORPHA:108;ORPHA:1083;ORPHA:1084;ORPHA:109;ORPHA:1094;ORPHA:11;ORPHA:110;ORPHA:1101;ORPHA:1104;ORPHA:1106;ORPHA:111;ORPHA:1110;ORPHA:1112;ORPHA:1113;ORPHA:1114;ORPHA:1116;ORPHA:1117;ORPHA:1118;ORPHA:112;ORPHA:1120;ORPHA:1122;ORPHA:1123;ORPHA:1125;ORPHA:1129;ORPHA:113;ORPHA:1131;ORPHA:1133;ORPHA:1134;ORPHA:114;ORPHA:1143;ORPHA:1144;ORPHA:1145;ORPHA:1146;ORPHA:1147;ORPHA:1149;ORPHA:115;ORPHA:1150;ORPHA:1154;ORPHA:1159;ORPHA:116;ORPHA:1160;ORPHA:1163;ORPHA:1164;ORPHA:1166;ORPHA:1168;ORPHA:117;ORPHA:1170;ORPHA:1171;ORPHA:1173;ORPHA:1174;ORPHA:1175;ORPHA:1177;ORPHA:1178;ORPHA:1179;ORPHA:118;ORPHA:1180;ORPHA:1182;ORPHA:1183;ORPHA:1184;ORPHA:1185;ORPHA:1186;ORPHA:1187;ORPHA:1188;ORPHA:119;ORPHA:1190;ORPHA:1192;ORPHA:1193;ORPHA:1194;ORPHA:1195;ORPHA:1198;ORPHA:1199;ORPHA:1200;ORPHA:1201;ORPHA:1202;ORPHA:1203;ORPHA:1208;ORPHA:1209;ORPHA:1214;ORPHA:1215;ORPHA:1216;ORPHA:122;ORPHA:1221;ORPHA:1225;ORPHA:1226;ORPHA:1227;ORPHA:1228;ORPHA:1229;ORPHA:123;ORPHA:1231;ORPHA:1234;ORPHA:1236;ORPHA:1237;ORPHA:124;ORPHA:1241;ORPHA:1243;ORPHA:1248;ORPHA:125;ORPHA:1252;ORPHA:1253;ORPHA:1259;ORPHA:126;ORPHA:1261;ORPHA:1262;ORPHA:1263;ORPHA:1264;ORPHA:1267;ORPHA:127;ORPHA:1270;ORPHA:1272;ORPHA:1275;ORPHA:1276;ORPHA:1277;ORPHA:1278;ORPHA:129;ORPHA:1292;ORPHA:1295;ORPHA:1296;ORPHA:1297;ORPHA:1299;ORPHA:13;ORPHA:130;ORPHA:1300;ORPHA:1302;ORPHA:1303;ORPHA:1304;ORPHA:1305;ORPHA:1307;ORPHA:1308;ORPHA:1309;ORPHA:131;ORPHA:1310;ORPHA:1313;ORPHA:1314;ORPHA:1318;ORPHA:1319;ORPHA:132;ORPHA:1320;ORPHA:1323;ORPHA:1325;ORPHA:1326;ORPHA:1327;ORPHA:1328;ORPHA:1329;ORPHA:133;ORPHA:1330;ORPHA:1332;ORPHA:1333;ORPHA:1334;ORPHA:1335;ORPHA:1336;ORPHA:1338;ORPHA:134;ORPHA:1340;ORPHA:1344;ORPHA:1345;ORPHA:1349;ORPHA:135;ORPHA:1350;ORPHA:1352;ORPHA:1354;ORPHA:1355;ORPHA:1358;ORPHA:1359;ORPHA:136;ORPHA:1361;ORPHA:1366;ORPHA:1368;ORPHA:1369;ORPHA:1373;ORPHA:1375;ORPHA:137596;ORPHA:137599;ORPHA:137605;ORPHA:137608;ORPHA:137625;ORPHA:137634;ORPHA:137667;ORPHA:137675;ORPHA:137681;ORPHA:137686;ORPHA:1377;ORPHA:137754;ORPHA:137817;ORPHA:137831;ORPHA:137834;ORPHA:137867;ORPHA:137888;ORPHA:137898;ORPHA:137914;ORPHA:137935;ORPHA:138;ORPHA:1380;ORPHA:1383;ORPHA:1387;ORPHA:1388;ORPHA:1389;ORPHA:139;ORPHA:1390;ORPHA:1393;ORPHA:139396;ORPHA:139399;ORPHA:1394;ORPHA:139402;ORPHA:139406;ORPHA:139411;ORPHA:139414;ORPHA:139417;ORPHA:139426;ORPHA:139431;ORPHA:139436;ORPHA:139444;ORPHA:139450;ORPHA:139466;ORPHA:139471;ORPHA:139474;ORPHA:139480;ORPHA:139485;ORPHA:139507;ORPHA:139536;ORPHA:139578;ORPHA:1397;ORPHA:1398;ORPHA:1399;ORPHA:14;ORPHA:140;ORPHA:1401;ORPHA:140286;ORPHA:1406;ORPHA:140896;ORPHA:140905;ORPHA:140908;ORPHA:140927;ORPHA:140933;ORPHA:140936;ORPHA:140941;ORPHA:140944;ORPHA:140952;ORPHA:140957;ORPHA:140966;ORPHA:140976;ORPHA:140989;ORPHA:141;ORPHA:1410;ORPHA:141083;ORPHA:141091;ORPHA:141096;ORPHA:141099;ORPHA:141127;ORPHA:141132;ORPHA:141145;ORPHA:141152;ORPHA:141179;ORPHA:141184;ORPHA:1412;ORPHA:141291;ORPHA:141333;ORPHA:1414;ORPHA:1415;ORPHA:1416;ORPHA:142;ORPHA:1422;ORPHA:1423;ORPHA:1425;ORPHA:1426;ORPHA:1427;ORPHA:1429;ORPHA:143;ORPHA:1433;ORPHA:1435;ORPHA:1436;ORPHA:1437;ORPHA:1438;ORPHA:1439;ORPHA:144;ORPHA:1440;ORPHA:1441;ORPHA:1442;ORPHA:1443;ORPHA:1444;ORPHA:1445;ORPHA:1446;ORPHA:1447;ORPHA:1448;ORPHA:1449;ORPHA:145;ORPHA:1450;ORPHA:1451;ORPHA:1452;ORPHA:1453;ORPHA:1454;ORPHA:1457;ORPHA:1458;ORPHA:1461;ORPHA:1464;ORPHA:1465;ORPHA:1466;ORPHA:1467;ORPHA:147;ORPHA:1471;ORPHA:1473;ORPHA:1475;ORPHA:1478;ORPHA:1479;ORPHA:1484;ORPHA:1486;ORPHA:1487;ORPHA:1488;ORPHA:1490;ORPHA:1493;ORPHA:1495;ORPHA:1496;ORPHA:1497;ORPHA:15;ORPHA:1501;ORPHA:1506;ORPHA:1507;ORPHA:1508;ORPHA:1509;ORPHA:1512;ORPHA:1513;ORPHA:1514;ORPHA:1515;ORPHA:1516;ORPHA:1517;ORPHA:1519;ORPHA:1520;ORPHA:1521;ORPHA:1522;ORPHA:1525;ORPHA:1527;ORPHA:1528;ORPHA:1529;ORPHA:1532;ORPHA:1538;ORPHA:154;ORPHA:1540;ORPHA:1545;ORPHA:1546;ORPHA:1547;ORPHA:1548;ORPHA:1551;ORPHA:1552;ORPHA:1553;ORPHA:1555;ORPHA:1556;ORPHA:155878;ORPHA:156;ORPHA:1560;ORPHA:1563;ORPHA:1566;ORPHA:156728;ORPHA:1568;ORPHA:157;ORPHA:1570;ORPHA:1571;ORPHA:157215;ORPHA:1573;ORPHA:1574;ORPHA:157794;ORPHA:157798;ORPHA:1578;ORPHA:157801;ORPHA:157835;ORPHA:157846;ORPHA:157850;ORPHA:157941;ORPHA:157946;ORPHA:157954;ORPHA:157965;ORPHA:157973;ORPHA:157991;ORPHA:157997;ORPHA:158;ORPHA:1580;ORPHA:158000;ORPHA:158003;ORPHA:158008;ORPHA:158014;ORPHA:158022;ORPHA:158025;ORPHA:158057;ORPHA:158061;ORPHA:1581;ORPHA:158668;ORPHA:158673;ORPHA:158676;ORPHA:158681;ORPHA:158684;ORPHA:158687;ORPHA:1587;ORPHA:159;ORPHA:1590;ORPHA:1596;ORPHA:1597;ORPHA:1598;ORPHA:16;ORPHA:160;ORPHA:1600;ORPHA:160148;ORPHA:1606;ORPHA:1617;ORPHA:1620;ORPHA:1621;ORPHA:1627;ORPHA:163;ORPHA:163525;ORPHA:163596;ORPHA:1636;ORPHA:163634;ORPHA:163649;ORPHA:163654;ORPHA:163665;ORPHA:163681;ORPHA:163690;ORPHA:163693;ORPHA:163703;ORPHA:163721;ORPHA:163727;ORPHA:163746;ORPHA:163921;ORPHA:163934;ORPHA:163937;ORPHA:163956;ORPHA:163961;ORPHA:163966;ORPHA:163971;ORPHA:163976;ORPHA:163979;ORPHA:163985;ORPHA:1642;ORPHA:1643;ORPHA:1646;ORPHA:1647;ORPHA:1652;ORPHA:1653;ORPHA:1655;ORPHA:1656;ORPHA:1657;ORPHA:1658;ORPHA:1659;ORPHA:1660;ORPHA:166002;ORPHA:166016;ORPHA:166024;ORPHA:166035;ORPHA:166063;ORPHA:1661;ORPHA:166100;ORPHA:166108;ORPHA:166113;ORPHA:166119;ORPHA:1662;ORPHA:166272;ORPHA:166277;ORPHA:1665;ORPHA:1666;ORPHA:1667;ORPHA:167;ORPHA:1671;ORPHA:1672;ORPHA:1675;ORPHA:167635;ORPHA:1677;ORPHA:168;ORPHA:1681;ORPHA:1682;ORPHA:168549;ORPHA:168555;ORPHA:168558;ORPHA:168563;ORPHA:168569;ORPHA:168572;ORPHA:168577;ORPHA:168588;ORPHA:168593;ORPHA:1686;ORPHA:168621;ORPHA:168624;ORPHA:168782;ORPHA:168796;ORPHA:168811;ORPHA:168816;ORPHA:168829;ORPHA:168984;ORPHA:169;ORPHA:169079;ORPHA:169090;ORPHA:169095;ORPHA:169105;ORPHA:169154;ORPHA:169160;ORPHA:169186;ORPHA:169189;ORPHA:1692;ORPHA:1695;ORPHA:1698;ORPHA:169802;ORPHA:169805;ORPHA:1699;ORPHA:17;ORPHA:170;ORPHA:1702;ORPHA:1703;ORPHA:1705;ORPHA:1706;ORPHA:1707;ORPHA:1708;ORPHA:171;ORPHA:1711;ORPHA:1713;ORPHA:171430;ORPHA:171433;ORPHA:171436;ORPHA:171439;ORPHA:171442;ORPHA:171445;ORPHA:1715;ORPHA:1716;ORPHA:171607;ORPHA:171612;ORPHA:171617;ORPHA:171622;ORPHA:171629;ORPHA:171673;ORPHA:171680;ORPHA:171684;ORPHA:171695;ORPHA:171703;ORPHA:171706;ORPHA:171719;ORPHA:171829;ORPHA:171839;ORPHA:171844;ORPHA:171851;ORPHA:171863;ORPHA:171866;ORPHA:171876;ORPHA:171881;ORPHA:171929;ORPHA:172;ORPHA:1723;ORPHA:1724;ORPHA:1727;ORPHA:173;ORPHA:1738;ORPHA:174;ORPHA:1742;ORPHA:1745;ORPHA:1747;ORPHA:175;ORPHA:1752;ORPHA:1756;ORPHA:1757;ORPHA:1759;ORPHA:1762;ORPHA:1764;ORPHA:1766;ORPHA:177;ORPHA:1770;ORPHA:1772;ORPHA:1775;ORPHA:1777;ORPHA:1778;ORPHA:1779;ORPHA:177901;ORPHA:177904;ORPHA:177907;ORPHA:177910;ORPHA:177926;ORPHA:1780;ORPHA:178029;ORPHA:178145;ORPHA:178148;ORPHA:1782;ORPHA:178303;ORPHA:178320;ORPHA:178333;ORPHA:178345;ORPHA:178377;ORPHA:178382;ORPHA:1784;ORPHA:178400;ORPHA:178464;ORPHA:178475;ORPHA:178478;ORPHA:178481;ORPHA:178487;ORPHA:178509;ORPHA:1786;ORPHA:1787;ORPHA:1788;ORPHA:179;ORPHA:1790;ORPHA:1791;ORPHA:1794;ORPHA:179494;ORPHA:1797;ORPHA:1798;ORPHA:1799;ORPHA:18;ORPHA:180;ORPHA:1801;ORPHA:1802;ORPHA:180229;ORPHA:1803;ORPHA:1806;ORPHA:1807;ORPHA:1808;ORPHA:1809;ORPHA:181;ORPHA:1810;ORPHA:1811;ORPHA:1812;ORPHA:1816;ORPHA:1818;ORPHA:182;ORPHA:182050;ORPHA:1822;ORPHA:1824;ORPHA:1825;ORPHA:1826;ORPHA:1827;ORPHA:183;ORPHA:1830;ORPHA:1832;ORPHA:1834;ORPHA:1836;ORPHA:183675;ORPHA:1837;ORPHA:183707;ORPHA:1839;ORPHA:184;ORPHA:1848;ORPHA:185;ORPHA:1851;ORPHA:1855;ORPHA:1856;ORPHA:1858;ORPHA:186;ORPHA:1860;ORPHA:1861;ORPHA:1865;ORPHA:1867;ORPHA:1871;ORPHA:1872;ORPHA:1873;ORPHA:1875;ORPHA:1876;ORPHA:1878;ORPHA:1879;ORPHA:188;ORPHA:1880;ORPHA:1882;ORPHA:1883;ORPHA:1885;ORPHA:189;ORPHA:1891;ORPHA:1892;ORPHA:189427;ORPHA:1895;ORPHA:1896;ORPHA:1897;ORPHA:1899;ORPHA:190;ORPHA:1900;ORPHA:1901;ORPHA:1906;ORPHA:1908;ORPHA:1909;ORPHA:191;ORPHA:1910;ORPHA:1911;ORPHA:1912;ORPHA:1913;ORPHA:1914;ORPHA:1915;ORPHA:1916;ORPHA:1917;ORPHA:1918;ORPHA:1919;ORPHA:192;ORPHA:1920;ORPHA:1923;ORPHA:1926;ORPHA:1927;ORPHA:1928;ORPHA:1929;ORPHA:193;ORPHA:1930;ORPHA:1931;ORPHA:1933;ORPHA:1934;ORPHA:1937;ORPHA:1941;ORPHA:1942;ORPHA:1945;ORPHA:1946;ORPHA:1947;ORPHA:1948;ORPHA:1949;ORPHA:195;ORPHA:1951;ORPHA:1952;ORPHA:1954;ORPHA:1955;ORPHA:1959;ORPHA:1962;ORPHA:1964;ORPHA:1968;ORPHA:1969;ORPHA:1970;ORPHA:1972;ORPHA:1973;ORPHA:1974;ORPHA:1979;ORPHA:198;ORPHA:1980;ORPHA:1986;ORPHA:1988;ORPHA:199;ORPHA:199241;ORPHA:199244;ORPHA:199251;ORPHA:199267;ORPHA:199276;ORPHA:199282;ORPHA:199296;ORPHA:199299;ORPHA:1993;ORPHA:199302;ORPHA:199306;ORPHA:199310;ORPHA:199318;ORPHA:199343;ORPHA:199351;ORPHA:199354;ORPHA:1997;ORPHA:20;ORPHA:200;ORPHA:2001;ORPHA:2003;ORPHA:2004;ORPHA:2007;ORPHA:2008;ORPHA:201;ORPHA:2010;ORPHA:2013;ORPHA:2015;ORPHA:2016;ORPHA:2017;ORPHA:2019;ORPHA:2020;ORPHA:2021;ORPHA:2022;ORPHA:2023;ORPHA:2024;ORPHA:2025;ORPHA:2026;ORPHA:2027;ORPHA:2028;ORPHA:2031;ORPHA:2032;ORPHA:2035;ORPHA:2036;ORPHA:204;ORPHA:2040;ORPHA:2041;ORPHA:2044;ORPHA:2045;ORPHA:2047;ORPHA:2048;ORPHA:205;ORPHA:2050;ORPHA:2052;ORPHA:2053;ORPHA:2056;ORPHA:2057;ORPHA:2058;ORPHA:2059;ORPHA:2062;ORPHA:2063;ORPHA:2064;ORPHA:206436;ORPHA:206443;ORPHA:206448;ORPHA:206484;ORPHA:2065;ORPHA:206546;ORPHA:206549;ORPHA:206559;ORPHA:206569;ORPHA:206572;ORPHA:206583;ORPHA:206594;ORPHA:206599;ORPHA:2066;ORPHA:2067;ORPHA:2069;ORPHA:207;ORPHA:2070;ORPHA:2072;ORPHA:2073;ORPHA:2074;ORPHA:2075;ORPHA:2077;ORPHA:2078;ORPHA:2083;ORPHA:2084;ORPHA:208441;ORPHA:208444;ORPHA:208447;ORPHA:2085;ORPHA:208513;ORPHA:2086;ORPHA:2088;ORPHA:2089;ORPHA:208999;ORPHA:2090;ORPHA:209004;ORPHA:2091;ORPHA:2092;ORPHA:209335;ORPHA:209370;ORPHA:2095;ORPHA:2097;ORPHA:2098;ORPHA:209902;ORPHA:209905;ORPHA:209908;ORPHA:209919;ORPHA:209943;ORPHA:209951;ORPHA:209956;ORPHA:209959;ORPHA:209964;ORPHA:209967;ORPHA:209970;ORPHA:209981;ORPHA:2101;ORPHA:210110;ORPHA:210122;ORPHA:210128;ORPHA:210136;ORPHA:210272;ORPHA:2104;ORPHA:210548;ORPHA:210571;ORPHA:2107;ORPHA:2108;ORPHA:211;ORPHA:2110;ORPHA:211017;ORPHA:211067;ORPHA:2111;ORPHA:2114;ORPHA:2115;ORPHA:2116;ORPHA:2117;ORPHA:2118;ORPHA:2119;ORPHA:212;ORPHA:2122;ORPHA:2123;ORPHA:2126;ORPHA:2128;ORPHA:213;ORPHA:2131;ORPHA:2133;ORPHA:2134;ORPHA:2135;ORPHA:2136;ORPHA:2137;ORPHA:2138;ORPHA:2139;ORPHA:214;ORPHA:2140;ORPHA:2141;ORPHA:2143;ORPHA:2145;ORPHA:2148;ORPHA:2149;ORPHA:215;ORPHA:2150;ORPHA:2151;ORPHA:2152;ORPHA:2155;ORPHA:2157;ORPHA:2158;ORPHA:2162;ORPHA:2163;ORPHA:2165;ORPHA:2166;ORPHA:216694;ORPHA:2167;ORPHA:216866;ORPHA:216873;ORPHA:2169;ORPHA:217;ORPHA:217008;ORPHA:217012;ORPHA:217017;ORPHA:217059;ORPHA:217067;ORPHA:2172;ORPHA:217253;ORPHA:217260;ORPHA:217266;ORPHA:217335;ORPHA:217340;ORPHA:217346;ORPHA:217377;ORPHA:217385;ORPHA:217390;ORPHA:217563;ORPHA:2176;ORPHA:217622;ORPHA:2177;ORPHA:218;ORPHA:2180;ORPHA:2181;ORPHA:2182;ORPHA:2183;ORPHA:2184;ORPHA:2185;ORPHA:2189;ORPHA:219;ORPHA:2195;ORPHA:2196;ORPHA:2197;ORPHA:2198;ORPHA:2199;ORPHA:22;ORPHA:220;ORPHA:2200;ORPHA:2201;ORPHA:2202;ORPHA:220295;ORPHA:2203;ORPHA:220386;ORPHA:220393;ORPHA:2204;ORPHA:220402;ORPHA:220460;ORPHA:220465;ORPHA:220493;ORPHA:220497;ORPHA:2206;ORPHA:2209;ORPHA:221;ORPHA:221008;ORPHA:221016;ORPHA:221054;ORPHA:221061;ORPHA:221074;ORPHA:221091;ORPHA:221098;ORPHA:2211;ORPHA:221120;ORPHA:221139;ORPHA:2213;ORPHA:2215;ORPHA:2216;ORPHA:2218;ORPHA:222;ORPHA:2220;ORPHA:2221;ORPHA:2222;ORPHA:2224;ORPHA:2228;ORPHA:2229;ORPHA:223;ORPHA:2232;ORPHA:2233;ORPHA:2234;ORPHA:2235;ORPHA:2237;ORPHA:2238;ORPHA:2239;ORPHA:2241;ORPHA:2246;ORPHA:2248;ORPHA:2249;ORPHA:2250;ORPHA:2251;ORPHA:225123;ORPHA:225147;ORPHA:225154;ORPHA:2252;ORPHA:2253;ORPHA:2254;ORPHA:2255;ORPHA:2256;ORPHA:2257;ORPHA:226;ORPHA:2260;ORPHA:2261;ORPHA:226307;ORPHA:226313;ORPHA:226316;ORPHA:2266;ORPHA:2268;ORPHA:2269;ORPHA:227;ORPHA:2271;ORPHA:2273;ORPHA:2274;ORPHA:227510;ORPHA:2278;ORPHA:227982;ORPHA:227990;ORPHA:228113;ORPHA:228116;ORPHA:228119;ORPHA:228123;ORPHA:228169;ORPHA:228190;ORPHA:2282;ORPHA:228240;ORPHA:228277;ORPHA:228302;ORPHA:228305;ORPHA:228308;ORPHA:228371;ORPHA:228384;ORPHA:228390;ORPHA:228396;ORPHA:228399;ORPHA:228402;ORPHA:228410;ORPHA:228415;ORPHA:228423;ORPHA:228426;ORPHA:2285;ORPHA:2287;ORPHA:2289;ORPHA:229;ORPHA:2290;ORPHA:2291;ORPHA:2295;ORPHA:2297;ORPHA:229717;ORPHA:2298;ORPHA:2299;ORPHA:23;ORPHA:230;ORPHA:2300;ORPHA:2301;ORPHA:2302;ORPHA:2305;ORPHA:2306;ORPHA:2307;ORPHA:2308;ORPHA:230800;ORPHA:230839;ORPHA:230851;ORPHA:2309;ORPHA:231;ORPHA:2310;ORPHA:2311;ORPHA:231111;ORPHA:231137;ORPHA:231140;ORPHA:231144;ORPHA:231147;ORPHA:231154;ORPHA:231160;ORPHA:231169;ORPHA:231178;ORPHA:231183;ORPHA:231214;ORPHA:231222;ORPHA:231226;ORPHA:231237;ORPHA:231242;ORPHA:231249;ORPHA:231393;ORPHA:2314;ORPHA:231401;ORPHA:231445;ORPHA:2315;ORPHA:231568;ORPHA:231580;ORPHA:2316;ORPHA:231625;ORPHA:231632;ORPHA:231720;ORPHA:231736;ORPHA:2318;ORPHA:2319;ORPHA:232;ORPHA:2321;ORPHA:2322;ORPHA:2323;ORPHA:2324;ORPHA:2325;ORPHA:2326;ORPHA:2328;ORPHA:233;ORPHA:2330;ORPHA:2331;ORPHA:2332;ORPHA:2334;ORPHA:2337;ORPHA:2339;ORPHA:234;ORPHA:2340;ORPHA:2342;ORPHA:2345;ORPHA:2347;ORPHA:2348;ORPHA:2349;ORPHA:235;ORPHA:2357;ORPHA:236;ORPHA:2363;ORPHA:2364;ORPHA:2368;ORPHA:2369;ORPHA:237;ORPHA:2370;ORPHA:2373;ORPHA:2374;ORPHA:2375;ORPHA:2377;ORPHA:2378;ORPHA:2379;ORPHA:2380;ORPHA:2382;ORPHA:238329;ORPHA:238446;ORPHA:238455;ORPHA:238459;ORPHA:238468;ORPHA:238578;ORPHA:238583;ORPHA:2386;ORPHA:238606;ORPHA:238624;ORPHA:2387;ORPHA:238722;ORPHA:238750;ORPHA:238769;ORPHA:2388;ORPHA:239;ORPHA:2394;ORPHA:2396;ORPHA:2398;ORPHA:2399;ORPHA:24;ORPHA:240;ORPHA:2400;ORPHA:240071;ORPHA:240085;ORPHA:240094;ORPHA:240103;ORPHA:240112;ORPHA:2406;ORPHA:2407;ORPHA:2408;ORPHA:2409;ORPHA:241;ORPHA:2410;ORPHA:2412;ORPHA:2414;ORPHA:242;ORPHA:2429;ORPHA:243;ORPHA:2430;ORPHA:2432;ORPHA:243343;ORPHA:2435;ORPHA:2437;ORPHA:2438;ORPHA:2439;ORPHA:244;ORPHA:2440;ORPHA:244242;ORPHA:244310;ORPHA:2444;ORPHA:245;ORPHA:2456;ORPHA:2457;ORPHA:246;ORPHA:2460;ORPHA:2461;ORPHA:2462;ORPHA:2463;ORPHA:2466;ORPHA:2470;ORPHA:2471;ORPHA:247234;ORPHA:247245;ORPHA:247257;ORPHA:247262;ORPHA:2473;ORPHA:247353;ORPHA:2475;ORPHA:247525;ORPHA:247585;ORPHA:247598;ORPHA:2476;ORPHA:247604;ORPHA:247691;ORPHA:2477;ORPHA:247768;ORPHA:247798;ORPHA:2478;ORPHA:247815;ORPHA:2479;ORPHA:248;ORPHA:2481;ORPHA:248111;ORPHA:2483;ORPHA:2484;ORPHA:2485;ORPHA:2487;ORPHA:2489;ORPHA:249;ORPHA:2491;ORPHA:2492;ORPHA:2494;ORPHA:2495;ORPHA:2496;ORPHA:2497;ORPHA:2499;ORPHA:25;ORPHA:2500;ORPHA:2501;ORPHA:2502;ORPHA:2505;ORPHA:2508;ORPHA:250923;ORPHA:250972;ORPHA:250977;ORPHA:250989;ORPHA:250994;ORPHA:250999;ORPHA:2510;ORPHA:251004;ORPHA:251009;ORPHA:251014;ORPHA:251019;ORPHA:251028;ORPHA:251038;ORPHA:251046;ORPHA:251056;ORPHA:251061;ORPHA:251066;ORPHA:251071;ORPHA:251076;ORPHA:2511;ORPHA:2512;ORPHA:251274;ORPHA:251282;ORPHA:2513;ORPHA:251347;ORPHA:251380;ORPHA:251383;ORPHA:251393;ORPHA:2514;ORPHA:2515;ORPHA:251510;ORPHA:2516;ORPHA:251623;ORPHA:251636;ORPHA:251639;ORPHA:251643;ORPHA:2518;ORPHA:2519;ORPHA:251909;ORPHA:251912;ORPHA:251915;ORPHA:251937;ORPHA:251992;ORPHA:252054;ORPHA:2521;ORPHA:252164;ORPHA:252183;ORPHA:2522;ORPHA:2523;ORPHA:2524;ORPHA:2526;ORPHA:2528;ORPHA:2533;ORPHA:2536;ORPHA:2538;ORPHA:254343;ORPHA:254346;ORPHA:254351;ORPHA:254361;ORPHA:254478;ORPHA:254504;ORPHA:254509;ORPHA:254516;ORPHA:254519;ORPHA:254525;ORPHA:254528;ORPHA:254531;ORPHA:254534;ORPHA:2547;ORPHA:254854;ORPHA:254857;ORPHA:254864;ORPHA:254875;ORPHA:254881;ORPHA:254886;ORPHA:254892;ORPHA:2549;ORPHA:254913;ORPHA:254930;ORPHA:255138;ORPHA:255182;ORPHA:2552;ORPHA:255210;ORPHA:2554;ORPHA:2556;ORPHA:2557;ORPHA:256;ORPHA:2560;ORPHA:2563;ORPHA:2564;ORPHA:257;ORPHA:2570;ORPHA:2571;ORPHA:2572;ORPHA:2573;ORPHA:2575;ORPHA:2576;ORPHA:2578;ORPHA:2579;ORPHA:258;ORPHA:2582;ORPHA:2583;ORPHA:2584;ORPHA:2585;ORPHA:2588;ORPHA:2589;ORPHA:2590;ORPHA:2591;ORPHA:2593;ORPHA:2596;ORPHA:2597;ORPHA:2598;ORPHA:26;ORPHA:2604;ORPHA:2608;ORPHA:2609;ORPHA:261;ORPHA:2611;ORPHA:261102;ORPHA:261112;ORPHA:261120;ORPHA:261144;ORPHA:261183;ORPHA:261190;ORPHA:261197;ORPHA:2612;ORPHA:261204;ORPHA:261211;ORPHA:261222;ORPHA:261229;ORPHA:261236;ORPHA:261243;ORPHA:261250;ORPHA:261265;ORPHA:261272;ORPHA:261279;ORPHA:261290;ORPHA:261295;ORPHA:2613;ORPHA:261304;ORPHA:261311;ORPHA:261318;ORPHA:261323;ORPHA:261330;ORPHA:261337;ORPHA:261344;ORPHA:261349;ORPHA:26137;ORPHA:2614;ORPHA:261476;ORPHA:261483;ORPHA:261494;ORPHA:261519;ORPHA:261524;ORPHA:261529;ORPHA:261534;ORPHA:261537;ORPHA:261552;ORPHA:261584;ORPHA:2616;ORPHA:261652;ORPHA:2617;ORPHA:2619;ORPHA:2623;ORPHA:2631;ORPHA:2632;ORPHA:263297;ORPHA:2633;ORPHA:2634;ORPHA:263410;ORPHA:263432;ORPHA:263455;ORPHA:263458;ORPHA:263463;ORPHA:263479;ORPHA:263487;ORPHA:263494;ORPHA:2635;ORPHA:263501;ORPHA:263508;ORPHA:263516;ORPHA:263534;ORPHA:2636;ORPHA:263665;ORPHA:2637;ORPHA:2639;ORPHA:264200;ORPHA:2643;ORPHA:264450;ORPHA:2645;ORPHA:264580;ORPHA:264675;ORPHA:2655;ORPHA:2658;ORPHA:2662;ORPHA:2663;ORPHA:2668;ORPHA:2669;ORPHA:267;ORPHA:2670;ORPHA:2671;ORPHA:2672;ORPHA:2673;ORPHA:2678;ORPHA:26790;ORPHA:26791;ORPHA:26792;ORPHA:26793;ORPHA:268;ORPHA:2680;ORPHA:268249;ORPHA:268261;ORPHA:2686;ORPHA:2688;ORPHA:268810;ORPHA:268882;ORPHA:268940;ORPHA:268943;ORPHA:268947;ORPHA:269;ORPHA:2690;ORPHA:2695;ORPHA:2697;ORPHA:2698;ORPHA:27;ORPHA:270;ORPHA:2701;ORPHA:2703;ORPHA:2704;ORPHA:2707;ORPHA:2709;ORPHA:2710;ORPHA:2712;ORPHA:2714;ORPHA:2715;ORPHA:2717;ORPHA:271861;ORPHA:2719;ORPHA:272;ORPHA:2720;ORPHA:2722;ORPHA:2724;ORPHA:2728;ORPHA:273;ORPHA:2730;ORPHA:2732;ORPHA:2736;ORPHA:274;ORPHA:2741;ORPHA:2743;ORPHA:2744;ORPHA:2745;ORPHA:2746;ORPHA:275;ORPHA:2750;ORPHA:2751;ORPHA:2753;ORPHA:2754;ORPHA:275543;ORPHA:275555;ORPHA:275761;ORPHA:275766;ORPHA:275864;ORPHA:275872;ORPHA:2759;ORPHA:276;ORPHA:2760;ORPHA:276152;ORPHA:276183;ORPHA:276193;ORPHA:276198;ORPHA:2762;ORPHA:276238;ORPHA:276241;ORPHA:276244;ORPHA:276280;ORPHA:276399;ORPHA:2764;ORPHA:276413;ORPHA:276422;ORPHA:276432;ORPHA:276435;ORPHA:276556;ORPHA:276575;ORPHA:276580;ORPHA:276608;ORPHA:276621;ORPHA:276630;ORPHA:2768;ORPHA:2769;ORPHA:277;ORPHA:2770;ORPHA:2771;ORPHA:2772;ORPHA:2773;ORPHA:2774;ORPHA:2776;ORPHA:2777;ORPHA:2779;ORPHA:2780;ORPHA:2785;ORPHA:2786;ORPHA:2788;ORPHA:2789;ORPHA:2790;ORPHA:2791;ORPHA:2792;ORPHA:2793;ORPHA:2795;ORPHA:2796;ORPHA:2798;ORPHA:279882;ORPHA:279914;ORPHA:279947;ORPHA:28;ORPHA:280;ORPHA:280062;ORPHA:280071;ORPHA:2801;ORPHA:2802;ORPHA:280200;ORPHA:280210;ORPHA:280219;ORPHA:280224;ORPHA:280229;ORPHA:280234;ORPHA:280333;ORPHA:280356;ORPHA:280365;ORPHA:280384;ORPHA:280397;ORPHA:2804;ORPHA:2806;ORPHA:280633;ORPHA:280679;ORPHA:2807;ORPHA:280763;ORPHA:280779;ORPHA:280785;ORPHA:280794;ORPHA:2808;ORPHA:280921;ORPHA:281;ORPHA:281090;ORPHA:281122;ORPHA:281127;ORPHA:2812;ORPHA:281201;ORPHA:2815;ORPHA:2818;ORPHA:2819;ORPHA:2820;ORPHA:2821;ORPHA:282166;ORPHA:2822;ORPHA:2824;ORPHA:2826;ORPHA:2828;ORPHA:2831;ORPHA:2833;ORPHA:2834;ORPHA:2835;ORPHA:2836;ORPHA:28378;ORPHA:2838;ORPHA:2839;ORPHA:284;ORPHA:2840;ORPHA:2841;ORPHA:284160;ORPHA:284169;ORPHA:284180;ORPHA:2842;ORPHA:284227;ORPHA:284271;ORPHA:284282;ORPHA:284289;ORPHA:2843;ORPHA:284324;ORPHA:284332;ORPHA:284339;ORPHA:284388;ORPHA:284400;ORPHA:284417;ORPHA:284426;ORPHA:284454;ORPHA:2847;ORPHA:2848;ORPHA:2849;ORPHA:284979;ORPHA:284984;ORPHA:285;ORPHA:2850;ORPHA:2855;ORPHA:2856;ORPHA:286;ORPHA:2863;ORPHA:2865;ORPHA:2866;ORPHA:2867;ORPHA:2868;ORPHA:2869;ORPHA:287;ORPHA:2871;ORPHA:2872;ORPHA:2874;ORPHA:2875;ORPHA:2876;ORPHA:2879;ORPHA:288;ORPHA:2880;ORPHA:2882;ORPHA:2884;ORPHA:2885;ORPHA:2886;ORPHA:2889;ORPHA:289;ORPHA:2890;ORPHA:2891;ORPHA:289157;ORPHA:289176;ORPHA:289266;ORPHA:289390;ORPHA:289483;ORPHA:289494;ORPHA:289504;ORPHA:289522;ORPHA:289548;ORPHA:289560;ORPHA:289596;ORPHA:2896;ORPHA:289601;ORPHA:2897;ORPHA:2898;ORPHA:289916;ORPHA:29;ORPHA:290;ORPHA:2900;ORPHA:2901;ORPHA:2902;ORPHA:2903;ORPHA:2905;ORPHA:2907;ORPHA:29072;ORPHA:29073;ORPHA:2908;ORPHA:2909;ORPHA:291;ORPHA:2911;ORPHA:2912;ORPHA:2916;ORPHA:2917;ORPHA:2919;ORPHA:292;ORPHA:2920;ORPHA:29207;ORPHA:2921;ORPHA:2924;ORPHA:2926;ORPHA:2928;ORPHA:2929;ORPHA:293;ORPHA:2930;ORPHA:293168;ORPHA:293173;ORPHA:293181;ORPHA:2932;ORPHA:293381;ORPHA:2934;ORPHA:2935;ORPHA:293603;ORPHA:293621;ORPHA:293707;ORPHA:293725;ORPHA:293807;ORPHA:293812;ORPHA:293843;ORPHA:293939;ORPHA:293948;ORPHA:293964;ORPHA:293967;ORPHA:293978;ORPHA:293987;ORPHA:294;ORPHA:2940;ORPHA:294023;ORPHA:2942;ORPHA:294415;ORPHA:294975;ORPHA:295;ORPHA:295000;ORPHA:295036;ORPHA:295044;ORPHA:295047;ORPHA:2953;ORPHA:2956;ORPHA:2958;ORPHA:2959;ORPHA:296;ORPHA:2962;ORPHA:2963;ORPHA:2964;ORPHA:2965;ORPHA:2968;ORPHA:2969;ORPHA:297;ORPHA:2970;ORPHA:2971;ORPHA:2972;ORPHA:2973;ORPHA:2975;ORPHA:2976;ORPHA:2978;ORPHA:298;ORPHA:2980;ORPHA:29822;ORPHA:2983;ORPHA:2985;ORPHA:2988;ORPHA:2989;ORPHA:2990;ORPHA:2994;ORPHA:2995;ORPHA:2997;ORPHA:30;ORPHA:3000;ORPHA:300179;ORPHA:3002;ORPHA:300298;ORPHA:3003;ORPHA:300305;ORPHA:300373;ORPHA:300385;ORPHA:3004;ORPHA:300493;ORPHA:3005;ORPHA:300536;ORPHA:300570;ORPHA:300573;ORPHA:3006;ORPHA:300605;ORPHA:300751;ORPHA:3008;ORPHA:3010;ORPHA:3011;ORPHA:3015;ORPHA:3016;ORPHA:3019;ORPHA:302;ORPHA:3021;ORPHA:3023;ORPHA:3027;ORPHA:3032;ORPHA:3033;ORPHA:3034;ORPHA:3035;ORPHA:3038;ORPHA:30391;ORPHA:3041;ORPHA:3042;ORPHA:3044;ORPHA:3047;ORPHA:3051;ORPHA:3052;ORPHA:3055;ORPHA:3057;ORPHA:306;ORPHA:3063;ORPHA:306511;ORPHA:306542;ORPHA:306550;ORPHA:306617;ORPHA:306669;ORPHA:306674;ORPHA:306682;ORPHA:306686;ORPHA:306692;ORPHA:306731;ORPHA:306734;ORPHA:306741;ORPHA:3068;ORPHA:307;ORPHA:3071;ORPHA:3074;ORPHA:3077;ORPHA:3078;ORPHA:3079;ORPHA:308;ORPHA:3080;ORPHA:3082;ORPHA:3085;ORPHA:308552;ORPHA:3088;ORPHA:309031;ORPHA:309108;ORPHA:309155;ORPHA:309162;ORPHA:309169;ORPHA:3092;ORPHA:309246;ORPHA:30925;ORPHA:309252;ORPHA:309256;ORPHA:309263;ORPHA:309271;ORPHA:309282;ORPHA:309288;ORPHA:3093;ORPHA:3095;ORPHA:3097;ORPHA:3098;ORPHA:309854;ORPHA:3099;ORPHA:31;ORPHA:3101;ORPHA:3102;ORPHA:3103;ORPHA:3104;ORPHA:3107;ORPHA:3109;ORPHA:3111;ORPHA:31112;ORPHA:3115;ORPHA:31150;ORPHA:312;ORPHA:31202;ORPHA:31204;ORPHA:31205;ORPHA:3121;ORPHA:3124;ORPHA:3129;ORPHA:313;ORPHA:3130;ORPHA:3132;ORPHA:3134;ORPHA:3137;ORPHA:313772;ORPHA:313781;ORPHA:3138;ORPHA:313855;ORPHA:313892;ORPHA:313906;ORPHA:313947;ORPHA:314;ORPHA:314034;ORPHA:3143;ORPHA:314389;ORPHA:3144;ORPHA:314404;ORPHA:314473;ORPHA:314478;ORPHA:3145;ORPHA:314575;ORPHA:314585;ORPHA:314588;ORPHA:314597;ORPHA:314603;ORPHA:314621;ORPHA:314632;ORPHA:314637;ORPHA:314647;ORPHA:314652;ORPHA:314655;ORPHA:314662;ORPHA:314679;ORPHA:314769;ORPHA:314795;ORPHA:314802;ORPHA:314811;ORPHA:314911;ORPHA:314918;ORPHA:314978;ORPHA:315;ORPHA:3151;ORPHA:3152;ORPHA:3156;ORPHA:3157;ORPHA:316;ORPHA:3162;ORPHA:3163;ORPHA:3164;ORPHA:3165;ORPHA:3166;ORPHA:3168;ORPHA:3169;ORPHA:317;ORPHA:3173;ORPHA:3175;ORPHA:3176;ORPHA:3177;ORPHA:318;ORPHA:3180;ORPHA:3181;ORPHA:31824;ORPHA:31825;ORPHA:31826;ORPHA:3186;ORPHA:3189;ORPHA:3191;ORPHA:319171;ORPHA:319182;ORPHA:319195;ORPHA:319199;ORPHA:319213;ORPHA:319218;ORPHA:319251;ORPHA:3193;ORPHA:319332;ORPHA:3194;ORPHA:319487;ORPHA:319514;ORPHA:3196;ORPHA:319671;ORPHA:319675;ORPHA:3197;ORPHA:3198;ORPHA:3199;ORPHA:32;ORPHA:320;ORPHA:3201;ORPHA:3202;ORPHA:3203;ORPHA:320355;ORPHA:320360;ORPHA:320365;ORPHA:320370;ORPHA:320375;ORPHA:320380;ORPHA:320385;ORPHA:320391;ORPHA:320396;ORPHA:3204;ORPHA:320401;ORPHA:320406;ORPHA:320411;ORPHA:3205;ORPHA:3206;ORPHA:3207;ORPHA:3208;ORPHA:321;ORPHA:3214;ORPHA:3216;ORPHA:3217;ORPHA:3218;ORPHA:3219;ORPHA:322;ORPHA:3222;ORPHA:3224;ORPHA:3225;ORPHA:3230;ORPHA:3232;ORPHA:3233;ORPHA:3235;ORPHA:3236;ORPHA:3237;ORPHA:3238;ORPHA:3239;ORPHA:324;ORPHA:3240;ORPHA:3241;ORPHA:3242;ORPHA:324262;ORPHA:324290;ORPHA:3243;ORPHA:324313;ORPHA:324410;ORPHA:324416;ORPHA:324422;ORPHA:324442;ORPHA:324525;ORPHA:324540;ORPHA:324575;ORPHA:324581;ORPHA:324588;ORPHA:3246;ORPHA:324604;ORPHA:324625;ORPHA:324636;ORPHA:324703;ORPHA:324708;ORPHA:324713;ORPHA:324723;ORPHA:324737;ORPHA:3248;ORPHA:324964;ORPHA:324972;ORPHA:325;ORPHA:3250;ORPHA:325124;ORPHA:3253;ORPHA:325345;ORPHA:3255;ORPHA:3258;ORPHA:326;ORPHA:3260;ORPHA:3261;ORPHA:3265;ORPHA:3266;ORPHA:3268;ORPHA:3269;ORPHA:327;ORPHA:3270;ORPHA:3275;ORPHA:328;ORPHA:3282;ORPHA:3283;ORPHA:3286;ORPHA:3287;ORPHA:329;ORPHA:329178;ORPHA:329224;ORPHA:329228;ORPHA:329249;ORPHA:329284;ORPHA:329308;ORPHA:329314;ORPHA:329329;ORPHA:329336;ORPHA:3294;ORPHA:329466;ORPHA:329475;ORPHA:329478;ORPHA:32960;ORPHA:329874;ORPHA:3299;ORPHA:329903;ORPHA:329918;ORPHA:329967;ORPHA:329971;ORPHA:33;ORPHA:330;ORPHA:330001;ORPHA:33001;ORPHA:330012;ORPHA:330015;ORPHA:330021;ORPHA:330050;ORPHA:330054;ORPHA:330058;ORPHA:330064;ORPHA:3301;ORPHA:3303;ORPHA:3304;ORPHA:3305;ORPHA:3306;ORPHA:33067;ORPHA:3307;ORPHA:3309;ORPHA:331;ORPHA:3310;ORPHA:33110;ORPHA:33111;ORPHA:3312;ORPHA:331206;ORPHA:331235;ORPHA:3314;ORPHA:3316;ORPHA:3318;ORPHA:3319;ORPHA:332;ORPHA:3320;ORPHA:33208;ORPHA:3322;ORPHA:33226;ORPHA:3325;ORPHA:3327;ORPHA:33276;ORPHA:3329;ORPHA:333;ORPHA:33314;ORPHA:33355;ORPHA:33364;ORPHA:3337;ORPHA:3338;ORPHA:3339;ORPHA:334;ORPHA:33402;ORPHA:33408;ORPHA:3342;ORPHA:3344;ORPHA:33445;ORPHA:3346;ORPHA:3347;ORPHA:3348;ORPHA:335;ORPHA:3350;ORPHA:3352;ORPHA:3353;ORPHA:33543;ORPHA:33572;ORPHA:33573;ORPHA:33574;ORPHA:33577;ORPHA:3361;ORPHA:3363;ORPHA:3366;ORPHA:3369;ORPHA:337;ORPHA:3374;ORPHA:3375;ORPHA:3376;ORPHA:3377;ORPHA:3378;ORPHA:3379;ORPHA:3380;ORPHA:3384;ORPHA:3385;ORPHA:3386;ORPHA:3392;ORPHA:340;ORPHA:3400;ORPHA:3403;ORPHA:3404;ORPHA:3405;ORPHA:3406;ORPHA:3408;ORPHA:3409;ORPHA:3411;ORPHA:3412;ORPHA:34145;ORPHA:3416;ORPHA:342;ORPHA:34217;ORPHA:3424;ORPHA:3426;ORPHA:3427;ORPHA:3429;ORPHA:343;ORPHA:3433;ORPHA:3434;ORPHA:3437;ORPHA:3439;ORPHA:3440;ORPHA:3447;ORPHA:3448;ORPHA:3449;ORPHA:345;ORPHA:34515;ORPHA:34516;ORPHA:3452;ORPHA:3453;ORPHA:3454;ORPHA:3455;ORPHA:3456;ORPHA:34587;ORPHA:3459;ORPHA:346;ORPHA:3463;ORPHA:3464;ORPHA:3465;ORPHA:3467;ORPHA:3469;ORPHA:347;ORPHA:3471;ORPHA:3472;ORPHA:3473;ORPHA:3474;ORPHA:348;ORPHA:349;ORPHA:35;ORPHA:35062;ORPHA:35069;ORPHA:35078;ORPHA:351;ORPHA:35107;ORPHA:35122;ORPHA:35125;ORPHA:35173;ORPHA:352328;ORPHA:352403;ORPHA:352447;ORPHA:352470;ORPHA:352479;ORPHA:352490;ORPHA:352530;ORPHA:352540;ORPHA:352577;ORPHA:352596;ORPHA:352641;ORPHA:352649;ORPHA:352665;ORPHA:352675;ORPHA:352682;ORPHA:352723;ORPHA:352731;ORPHA:353;ORPHA:353253;ORPHA:353277;ORPHA:353281;ORPHA:353284;ORPHA:353298;ORPHA:354;ORPHA:355;ORPHA:356;ORPHA:35612;ORPHA:35664;ORPHA:35687;ORPHA:35689;ORPHA:356961;ORPHA:356996;ORPHA:357001;ORPHA:35701;ORPHA:35704;ORPHA:357043;ORPHA:357058;ORPHA:35706;ORPHA:357074;ORPHA:35708;ORPHA:35710;ORPHA:357154;ORPHA:357175;ORPHA:357225;ORPHA:35737;ORPHA:358;ORPHA:35858;ORPHA:35878;ORPHA:35909;ORPHA:36;ORPHA:360;ORPHA:361;ORPHA:36234;ORPHA:36237;ORPHA:36238;ORPHA:36258;ORPHA:363400;ORPHA:363417;ORPHA:363424;ORPHA:363429;ORPHA:363432;ORPHA:363444;ORPHA:363454;ORPHA:363523;ORPHA:363528;ORPHA:363549;ORPHA:363558;ORPHA:363611;ORPHA:363618;ORPHA:363623;ORPHA:363654;ORPHA:363659;ORPHA:36367;ORPHA:363686;ORPHA:363700;ORPHA:363705;ORPHA:363710;ORPHA:363717;ORPHA:363722;ORPHA:363741;ORPHA:36386;ORPHA:36387;ORPHA:36397;ORPHA:364;ORPHA:364028;ORPHA:364055;ORPHA:36412;ORPHA:36426;ORPHA:364577;ORPHA:365;ORPHA:366;ORPHA:367;ORPHA:368;ORPHA:36899;ORPHA:369;ORPHA:36913;ORPHA:369837;ORPHA:369840;ORPHA:369847;ORPHA:369873;ORPHA:369891;ORPHA:369929;ORPHA:369939;ORPHA:369942;ORPHA:369950;ORPHA:37;ORPHA:370010;ORPHA:370022;ORPHA:370079;ORPHA:370091;ORPHA:370097;ORPHA:370103;ORPHA:370348;ORPHA:37042;ORPHA:370921;ORPHA:370924;ORPHA:370927;ORPHA:370930;ORPHA:370943;ORPHA:370968;ORPHA:370980;ORPHA:370997;ORPHA:371;ORPHA:371364;ORPHA:371428;ORPHA:37202;ORPHA:373;ORPHA:375;ORPHA:37553;ORPHA:376;ORPHA:37612;ORPHA:377;ORPHA:37748;ORPHA:379;ORPHA:38;ORPHA:380;ORPHA:381;ORPHA:382;ORPHA:384;ORPHA:388;ORPHA:38874;ORPHA:389;ORPHA:39041;ORPHA:391;ORPHA:391307;ORPHA:391372;ORPHA:391408;ORPHA:391411;ORPHA:391417;ORPHA:391428;ORPHA:391457;ORPHA:391474;ORPHA:391487;ORPHA:391641;ORPHA:391646;ORPHA:391665;ORPHA:391673;ORPHA:392;ORPHA:393;ORPHA:394;ORPHA:395;ORPHA:396;ORPHA:397;ORPHA:397596;ORPHA:397612;ORPHA:397685;ORPHA:397709;ORPHA:397715;ORPHA:397725;ORPHA:397744;ORPHA:397933;ORPHA:397941;ORPHA:397946;ORPHA:397951;ORPHA:397973;ORPHA:398063;ORPHA:398069;ORPHA:398079;ORPHA:39812;ORPHA:398124;ORPHA:398147;ORPHA:398156;ORPHA:398173;ORPHA:398189;ORPHA:399;ORPHA:399058;ORPHA:399081;ORPHA:399086;ORPHA:399096;ORPHA:399103;ORPHA:399180;ORPHA:399808;ORPHA:40;ORPHA:400;ORPHA:401768;ORPHA:401777;ORPHA:401780;ORPHA:401785;ORPHA:401795;ORPHA:401800;ORPHA:401805;ORPHA:401810;ORPHA:401815;ORPHA:401820;ORPHA:401830;ORPHA:401835;ORPHA:401840;ORPHA:401849;ORPHA:401866;ORPHA:401869;ORPHA:401874;ORPHA:401901;ORPHA:401911;ORPHA:401923;ORPHA:401935;ORPHA:401942;ORPHA:401945;ORPHA:401953;ORPHA:401973;ORPHA:401986;ORPHA:402075;ORPHA:402823;ORPHA:403;ORPHA:40366;ORPHA:404;ORPHA:404443;ORPHA:404448;ORPHA:404451;ORPHA:404454;ORPHA:404473;ORPHA:404493;ORPHA:404499;ORPHA:405;ORPHA:407;ORPHA:408;ORPHA:409;ORPHA:40923;ORPHA:41;ORPHA:411493;ORPHA:411511;ORPHA:411515;ORPHA:411536;ORPHA:411543;ORPHA:411590;ORPHA:411593;ORPHA:411602;ORPHA:411629;ORPHA:411634;ORPHA:411641;ORPHA:411703;ORPHA:411709;ORPHA:411777;ORPHA:411986;ORPHA:412;ORPHA:412035;ORPHA:412057;ORPHA:412066;ORPHA:412069;ORPHA:412217;ORPHA:414;ORPHA:415;ORPHA:416;ORPHA:417;ORPHA:41751;ORPHA:419;ORPHA:42;ORPHA:420179;ORPHA:420485;ORPHA:420492;ORPHA:420556;ORPHA:420561;ORPHA:42062;ORPHA:420741;ORPHA:420794;ORPHA:422;ORPHA:423;ORPHA:423275;ORPHA:423296;ORPHA:423461;ORPHA:423479;ORPHA:424;ORPHA:424016;ORPHA:424019;ORPHA:424107;ORPHA:425;ORPHA:42642;ORPHA:42665;ORPHA:427;ORPHA:42775;ORPHA:428;ORPHA:429;ORPHA:43;ORPHA:43116;ORPHA:431329;ORPHA:431341;ORPHA:431344;ORPHA:431347;ORPHA:431361;ORPHA:432;ORPHA:43393;ORPHA:434179;ORPHA:435387;ORPHA:435628;ORPHA:435638;ORPHA:435651;ORPHA:435660;ORPHA:435804;ORPHA:435934;ORPHA:435938;ORPHA:436;ORPHA:436003;ORPHA:436141;ORPHA:436144;ORPHA:436159;ORPHA:436174;ORPHA:436245;ORPHA:436252;ORPHA:436271;ORPHA:436274;ORPHA:438114;ORPHA:438134;ORPHA:438178;ORPHA:438213;ORPHA:438216;ORPHA:438274;ORPHA:439;ORPHA:439167;ORPHA:439218;ORPHA:439224;ORPHA:439232;ORPHA:439254;ORPHA:439822;ORPHA:440354;ORPHA:440437;ORPHA:440713;ORPHA:440727;ORPHA:441;ORPHA:442582;ORPHA:442835;ORPHA:443167;ORPHA:443804;ORPHA:443811;ORPHA:444;ORPHA:444002;ORPHA:444013;ORPHA:444051;ORPHA:444072;ORPHA:444077;ORPHA:444099;ORPHA:444463;ORPHA:444490;ORPHA:445038;ORPHA:445062;ORPHA:446;ORPHA:447;ORPHA:447753;ORPHA:447757;ORPHA:447760;ORPHA:447788;ORPHA:447877;ORPHA:447896;ORPHA:447980;ORPHA:447997;ORPHA:448237;ORPHA:44890;ORPHA:449280;ORPHA:449285;ORPHA:449395;ORPHA:449400;ORPHA:449427;ORPHA:449432;ORPHA:449563;ORPHA:45;ORPHA:452;ORPHA:453499;ORPHA:453504;ORPHA:453510;ORPHA:453521;ORPHA:453533;ORPHA:45358;ORPHA:454;ORPHA:45448;ORPHA:45452;ORPHA:45453;ORPHA:454718;ORPHA:454750;ORPHA:454831;ORPHA:454836;ORPHA:454840;ORPHA:454887;ORPHA:455;ORPHA:456312;ORPHA:456328;ORPHA:457;ORPHA:457050;ORPHA:457077;ORPHA:457083;ORPHA:457193;ORPHA:457205;ORPHA:457212;ORPHA:457240;ORPHA:457260;ORPHA:457279;ORPHA:457284;ORPHA:457351;ORPHA:457359;ORPHA:457365;ORPHA:457395;ORPHA:457406;ORPHA:457485;ORPHA:458798;ORPHA:458803;ORPHA:459033;ORPHA:459056;ORPHA:459061;ORPHA:459070;ORPHA:459074;ORPHA:46;ORPHA:46059;ORPHA:461;ORPHA:46348;ORPHA:464;ORPHA:464282;ORPHA:464288;ORPHA:464306;ORPHA:464311;ORPHA:464318;ORPHA:464321;ORPHA:464329;ORPHA:464343;ORPHA:464370;ORPHA:464440;ORPHA:464453;ORPHA:464738;ORPHA:46486;ORPHA:46487;ORPHA:46488;ORPHA:465;ORPHA:46532;ORPHA:466;ORPHA:46627;ORPHA:466650;ORPHA:466677;ORPHA:466688;ORPHA:466722;ORPHA:466768;ORPHA:466791;ORPHA:466794;ORPHA:466926;ORPHA:466934;ORPHA:466943;ORPHA:466950;ORPHA:467166;ORPHA:46724;ORPHA:468620;ORPHA:468631;ORPHA:468661;ORPHA:468678;ORPHA:468699;ORPHA:468726;ORPHA:469;ORPHA:47;ORPHA:470;ORPHA:47045;ORPHA:47159;ORPHA:474;ORPHA:475;ORPHA:47612;ORPHA:476126;ORPHA:477;ORPHA:477673;ORPHA:477774;ORPHA:477781;ORPHA:477814;ORPHA:477817;ORPHA:477993;ORPHA:478;ORPHA:478029;ORPHA:48;ORPHA:480;ORPHA:480520;ORPHA:480536;ORPHA:480864;ORPHA:480880;ORPHA:480898;ORPHA:480907;ORPHA:481;ORPHA:48104;ORPHA:481152;ORPHA:482;ORPHA:482601;ORPHA:48372;ORPHA:48377;ORPHA:48431;ORPHA:48435;ORPHA:485;ORPHA:485350;ORPHA:485405;ORPHA:485421;ORPHA:486;ORPHA:48652;ORPHA:486815;ORPHA:48686;ORPHA:487;ORPHA:487796;ORPHA:487825;ORPHA:488;ORPHA:48818;ORPHA:488191;ORPHA:488232;ORPHA:488333;ORPHA:488434;ORPHA:488437;ORPHA:488594;ORPHA:488613;ORPHA:488618;ORPHA:488627;ORPHA:488632;ORPHA:488635;ORPHA:488642;ORPHA:488650;ORPHA:48918;ORPHA:49;ORPHA:49041;ORPHA:49042;ORPHA:492;ORPHA:493;ORPHA:49382;ORPHA:494;ORPHA:494344;ORPHA:494424;ORPHA:494444;ORPHA:494526;ORPHA:494541;ORPHA:495;ORPHA:49566;ORPHA:495818;ORPHA:495875;ORPHA:496641;ORPHA:496689;ORPHA:496756;ORPHA:496790;ORPHA:497764;ORPHA:49804;ORPHA:49827;ORPHA:498359;ORPHA:499;ORPHA:499009;ORPHA:499096;ORPHA:5;ORPHA:50;ORPHA:500;ORPHA:500055;ORPHA:500095;ORPHA:500144;ORPHA:500150;ORPHA:500159;ORPHA:500166;ORPHA:500180;ORPHA:500533;ORPHA:500545;ORPHA:501;ORPHA:502;ORPHA:502423;ORPHA:502430;ORPHA:502434;ORPHA:50251;ORPHA:503;ORPHA:504476;ORPHA:505;ORPHA:505216;ORPHA:505237;ORPHA:505248;ORPHA:505652;ORPHA:506;ORPHA:506353;ORPHA:506358;ORPHA:507;ORPHA:508;ORPHA:50809;ORPHA:508093;ORPHA:50810;ORPHA:50811;ORPHA:50812;ORPHA:50814;ORPHA:50815;ORPHA:50839;ORPHA:508410;ORPHA:508488;ORPHA:508498;ORPHA:508533;ORPHA:508542;ORPHA:509;ORPHA:50918;ORPHA:50942;ORPHA:50943;ORPHA:50944;ORPHA:50945;ORPHA:51;ORPHA:510;ORPHA:51083;ORPHA:511;ORPHA:51188;ORPHA:512;ORPHA:51208;ORPHA:512260;ORPHA:513436;ORPHA:513456;ORPHA:514;ORPHA:51608;ORPHA:51636;ORPHA:517;ORPHA:51890;ORPHA:52;ORPHA:520;ORPHA:52022;ORPHA:52047;ORPHA:52055;ORPHA:52056;ORPHA:521;ORPHA:521219;ORPHA:521258;ORPHA:521308;ORPHA:521390;ORPHA:521406;ORPHA:521411;ORPHA:521426;ORPHA:521445;ORPHA:522077;ORPHA:523;ORPHA:52368;ORPHA:524;ORPHA:52416;ORPHA:52417;ORPHA:52427;ORPHA:52429;ORPHA:52430;ORPHA:525;ORPHA:52503;ORPHA:525731;ORPHA:526;ORPHA:527497;ORPHA:528;ORPHA:528623;ORPHA:528647;ORPHA:529;ORPHA:52901;ORPHA:529665;ORPHA:529799;ORPHA:529808;ORPHA:529864;ORPHA:529962;ORPHA:529965;ORPHA:529970;ORPHA:53;ORPHA:530;ORPHA:53035;ORPHA:530838;ORPHA:530983;ORPHA:531;ORPHA:531151;ORPHA:53271;ORPHA:53296;ORPHA:533;ORPHA:53351;ORPHA:53372;ORPHA:534;ORPHA:53583;ORPHA:536;ORPHA:536467;ORPHA:536471;ORPHA:536516;ORPHA:536532;ORPHA:53693;ORPHA:53697;ORPHA:537;ORPHA:53715;ORPHA:53721;ORPHA:538;ORPHA:538934;ORPHA:54;ORPHA:540;ORPHA:54028;ORPHA:54057;ORPHA:541423;ORPHA:542306;ORPHA:542310;ORPHA:54247;ORPHA:54251;ORPHA:542592;ORPHA:542643;ORPHA:543;ORPHA:543470;ORPHA:54370;ORPHA:544254;ORPHA:544469;ORPHA:544482;ORPHA:544488;ORPHA:544503;ORPHA:545;ORPHA:54595;ORPHA:548;ORPHA:549;ORPHA:550;ORPHA:551;ORPHA:552;ORPHA:555402;ORPHA:555407;ORPHA:555877;ORPHA:555905;ORPHA:556;ORPHA:556030;ORPHA:556037;ORPHA:55654;ORPHA:556955;ORPHA:557003;ORPHA:558;ORPHA:55881;ORPHA:559;ORPHA:56;ORPHA:560;ORPHA:561;ORPHA:561854;ORPHA:562;ORPHA:562509;ORPHA:562528;ORPHA:562639;ORPHA:563;ORPHA:56304;ORPHA:56305;ORPHA:563609;ORPHA:563612;ORPHA:563991;ORPHA:564;ORPHA:564003;ORPHA:56425;ORPHA:565;ORPHA:565612;ORPHA:565624;ORPHA:565782;ORPHA:565899;ORPHA:566;ORPHA:566243;ORPHA:566943;ORPHA:567;ORPHA:567544;ORPHA:567546;ORPHA:567548;ORPHA:567983;ORPHA:568;ORPHA:568051;ORPHA:569;ORPHA:569274;ORPHA:57;ORPHA:570;ORPHA:570422;ORPHA:57145;ORPHA:57196;ORPHA:572;ORPHA:572013;ORPHA:572333;ORPHA:572798;ORPHA:573;ORPHA:574;ORPHA:575;ORPHA:576;ORPHA:576283;ORPHA:577;ORPHA:57782;ORPHA:578;ORPHA:579;ORPHA:58;ORPHA:580;ORPHA:581;ORPHA:582;ORPHA:583;ORPHA:583097;ORPHA:583861;ORPHA:584;ORPHA:585;ORPHA:586;ORPHA:588;ORPHA:589;ORPHA:589618;ORPHA:589821;ORPHA:589905;ORPHA:59;ORPHA:590;ORPHA:59135;ORPHA:59181;ORPHA:592;ORPHA:592574;ORPHA:59298;ORPHA:59303;ORPHA:59315;ORPHA:596;ORPHA:596448;ORPHA:597;ORPHA:598;ORPHA:599373;ORPHA:6;ORPHA:60;ORPHA:600;ORPHA:60015;ORPHA:60025;ORPHA:60026;ORPHA:60030;ORPHA:60032;ORPHA:60033;ORPHA:60039;ORPHA:60040;ORPHA:60041;ORPHA:602;ORPHA:603;ORPHA:606;ORPHA:609;ORPHA:61;ORPHA:610;ORPHA:611;ORPHA:614;ORPHA:615;ORPHA:616;ORPHA:617;ORPHA:618;ORPHA:618891;ORPHA:62;ORPHA:620102;ORPHA:621;ORPHA:622;ORPHA:623615;ORPHA:623626;ORPHA:623789;ORPHA:624;ORPHA:624166;ORPHA:624259;ORPHA:626;ORPHA:627;ORPHA:628;ORPHA:63;ORPHA:631;ORPHA:63259;ORPHA:63260;ORPHA:63273;ORPHA:63275;ORPHA:633;ORPHA:633228;ORPHA:634;ORPHA:63442;ORPHA:63446;ORPHA:63455;ORPHA:635;ORPHA:636;ORPHA:637;ORPHA:638;ORPHA:63862;ORPHA:64;ORPHA:640;ORPHA:641;ORPHA:641496;ORPHA:642;ORPHA:64280;ORPHA:643;ORPHA:644;ORPHA:646;ORPHA:646136;ORPHA:647;ORPHA:64734;ORPHA:64739;ORPHA:64741;ORPHA:64743;ORPHA:64744;ORPHA:64745;ORPHA:64752;ORPHA:64753;ORPHA:64754;ORPHA:64755;ORPHA:647799;ORPHA:648;ORPHA:648919;ORPHA:649;ORPHA:65;ORPHA:650;ORPHA:652;ORPHA:65282;ORPHA:65285;ORPHA:65286;ORPHA:65287;ORPHA:65288;ORPHA:653;ORPHA:654;ORPHA:655;ORPHA:656;ORPHA:65681;ORPHA:65682;ORPHA:65683;ORPHA:65684;ORPHA:65759;ORPHA:658549;ORPHA:659;ORPHA:660;ORPHA:661;ORPHA:662;ORPHA:663;ORPHA:664;ORPHA:664372;ORPHA:66518;ORPHA:66529;ORPHA:666;ORPHA:66624;ORPHA:66625;ORPHA:66627;ORPHA:66628;ORPHA:66629;ORPHA:66630;ORPHA:66631;ORPHA:66633;ORPHA:66634;ORPHA:66637;ORPHA:66661;ORPHA:667;ORPHA:668;ORPHA:67;ORPHA:67036;ORPHA:67041;ORPHA:67042;ORPHA:67043;ORPHA:67044;ORPHA:67045;ORPHA:67046;ORPHA:67047;ORPHA:67048;ORPHA:672;ORPHA:673;ORPHA:675;ORPHA:676;ORPHA:677;ORPHA:678;ORPHA:679;ORPHA:68;ORPHA:681;ORPHA:682;ORPHA:683;ORPHA:684;ORPHA:685082;ORPHA:69061;ORPHA:69063;ORPHA:69076;ORPHA:69077;ORPHA:69078;ORPHA:69085;ORPHA:69087;ORPHA:69125;ORPHA:69126;ORPHA:693661;ORPHA:693681;ORPHA:69663;ORPHA:69665;ORPHA:697160;ORPHA:69723;ORPHA:69735;ORPHA:69736;ORPHA:69744;ORPHA:69745;ORPHA:699;ORPHA:7;ORPHA:70;ORPHA:700;ORPHA:701;ORPHA:702;ORPHA:703;ORPHA:704;ORPHA:70472;ORPHA:70475;ORPHA:70476;ORPHA:705;ORPHA:70567;ORPHA:70568;ORPHA:70578;ORPHA:70588;ORPHA:70589;ORPHA:70591;ORPHA:70592;ORPHA:70593;ORPHA:70594;ORPHA:70595;ORPHA:707;ORPHA:708;ORPHA:709;ORPHA:71;ORPHA:710;ORPHA:712;ORPHA:71211;ORPHA:71212;ORPHA:71213;ORPHA:71267;ORPHA:71272;ORPHA:71273;ORPHA:71275;ORPHA:71276;ORPHA:71277;ORPHA:71289;ORPHA:713;ORPHA:71493;ORPHA:715;ORPHA:71505;ORPHA:71517;ORPHA:71518;ORPHA:71519;ORPHA:71526;ORPHA:71528;ORPHA:71529;ORPHA:716;ORPHA:718;ORPHA:72;ORPHA:720;ORPHA:721;ORPHA:722;ORPHA:723;ORPHA:724;ORPHA:725;ORPHA:726;ORPHA:727;ORPHA:728;ORPHA:729;ORPHA:73;ORPHA:730;ORPHA:731;ORPHA:732;ORPHA:73223;ORPHA:73224;ORPHA:73229;ORPHA:73230;ORPHA:73245;ORPHA:73246;ORPHA:73256;ORPHA:73263;ORPHA:73267;ORPHA:73272;ORPHA:73273;ORPHA:733;ORPHA:735;ORPHA:737;ORPHA:739;ORPHA:74;ORPHA:740;ORPHA:742;ORPHA:743;ORPHA:744;ORPHA:745;ORPHA:746;ORPHA:747;ORPHA:750;ORPHA:752;ORPHA:75233;ORPHA:75234;ORPHA:753;ORPHA:75325;ORPHA:75373;ORPHA:75374;ORPHA:75376;ORPHA:75377;ORPHA:75378;ORPHA:75382;ORPHA:75389;ORPHA:75392;ORPHA:75496;ORPHA:75497;ORPHA:755;ORPHA:75563;ORPHA:75564;ORPHA:75565;ORPHA:75566;ORPHA:75567;ORPHA:757;ORPHA:758;ORPHA:75840;ORPHA:75857;ORPHA:75858;ORPHA:760;ORPHA:761;ORPHA:763;ORPHA:764;ORPHA:765;ORPHA:766;ORPHA:767;ORPHA:769;ORPHA:770;ORPHA:772;ORPHA:77258;ORPHA:77259;ORPHA:77260;ORPHA:77261;ORPHA:77292;ORPHA:77293;ORPHA:77296;ORPHA:77297;ORPHA:77298;ORPHA:77299;ORPHA:773;ORPHA:77300;ORPHA:77301;ORPHA:774;ORPHA:776;ORPHA:778;ORPHA:779;ORPHA:781;ORPHA:782;ORPHA:783;ORPHA:785;ORPHA:786;ORPHA:79;ORPHA:790;ORPHA:79076;ORPHA:79078;ORPHA:79083;ORPHA:79084;ORPHA:79085;ORPHA:79086;ORPHA:79087;ORPHA:79094;ORPHA:79095;ORPHA:79096;ORPHA:79097;ORPHA:79098;ORPHA:79099;ORPHA:791;ORPHA:79100;ORPHA:79101;ORPHA:79102;ORPHA:79106;ORPHA:79107;ORPHA:79113;ORPHA:79124;ORPHA:79126;ORPHA:79127;ORPHA:79128;ORPHA:79129;ORPHA:79133;ORPHA:79134;ORPHA:79135;ORPHA:79136;ORPHA:79137;ORPHA:79138;ORPHA:79139;ORPHA:79140;ORPHA:79141;ORPHA:79144;ORPHA:79145;ORPHA:79147;ORPHA:79148;ORPHA:79149;ORPHA:79151;ORPHA:79152;ORPHA:79153;ORPHA:79154;ORPHA:79155;ORPHA:79156;ORPHA:79157;ORPHA:79159;ORPHA:792;ORPHA:79230;ORPHA:79233;ORPHA:79234;ORPHA:79235;ORPHA:79237;ORPHA:79238;ORPHA:79239;ORPHA:79240;ORPHA:79241;ORPHA:79242;ORPHA:79243;ORPHA:79244;ORPHA:79246;ORPHA:79255;ORPHA:79259;ORPHA:79273;ORPHA:79276;ORPHA:79277;ORPHA:79278;ORPHA:79279;ORPHA:79280;ORPHA:79281;ORPHA:79282;ORPHA:79283;ORPHA:79284;ORPHA:79292;ORPHA:79299;ORPHA:793;ORPHA:79301;ORPHA:79302;ORPHA:79303;ORPHA:79312;ORPHA:79314;ORPHA:79315;ORPHA:79318;ORPHA:79319;ORPHA:79320;ORPHA:79321;ORPHA:79322;ORPHA:79323;ORPHA:79324;ORPHA:79325;ORPHA:79326;ORPHA:79327;ORPHA:79328;ORPHA:79329;ORPHA:79330;ORPHA:79332;ORPHA:79333;ORPHA:79345;ORPHA:79350;ORPHA:79351;ORPHA:79394;ORPHA:79395;ORPHA:79396;ORPHA:79397;ORPHA:79399;ORPHA:794;ORPHA:79400;ORPHA:79401;ORPHA:79402;ORPHA:79403;ORPHA:79404;ORPHA:79405;ORPHA:79406;ORPHA:79408;ORPHA:79409;ORPHA:79410;ORPHA:79411;ORPHA:79414;ORPHA:79430;ORPHA:79431;ORPHA:79432;ORPHA:79433;ORPHA:79434;ORPHA:79435;ORPHA:79443;ORPHA:79444;ORPHA:79445;ORPHA:79452;ORPHA:79455;ORPHA:79456;ORPHA:79457;ORPHA:79473;ORPHA:79474;ORPHA:79476;ORPHA:79477;ORPHA:79478;ORPHA:79479;ORPHA:79480;ORPHA:79481;ORPHA:79492;ORPHA:79493;ORPHA:79499;ORPHA:79500;ORPHA:79501;ORPHA:79503;ORPHA:796;ORPHA:79644;ORPHA:797;ORPHA:798;ORPHA:799;ORPHA:8;ORPHA:80;ORPHA:800;ORPHA:803;ORPHA:805;ORPHA:806;ORPHA:808;ORPHA:809;ORPHA:81;ORPHA:810;ORPHA:811;ORPHA:812;ORPHA:813;ORPHA:816;ORPHA:818;ORPHA:819;ORPHA:82;ORPHA:820;ORPHA:821;ORPHA:822;ORPHA:824;ORPHA:827;ORPHA:828;ORPHA:829;ORPHA:83;ORPHA:832;ORPHA:833;ORPHA:83313;ORPHA:83317;ORPHA:834;ORPHA:83450;ORPHA:83451;ORPHA:83452;ORPHA:83453;ORPHA:83454;ORPHA:83461;ORPHA:83463;ORPHA:83465;ORPHA:83467;ORPHA:83468;ORPHA:83469;ORPHA:83471;ORPHA:83472;ORPHA:83473;ORPHA:83597;ORPHA:83600;ORPHA:83601;ORPHA:83617;ORPHA:83619;ORPHA:83620;ORPHA:83628;ORPHA:83629;ORPHA:838;ORPHA:839;ORPHA:84;ORPHA:840;ORPHA:84064;ORPHA:84081;ORPHA:84085;ORPHA:84090;ORPHA:841;ORPHA:84142;ORPHA:845;ORPHA:846;ORPHA:847;ORPHA:848;ORPHA:849;ORPHA:851;ORPHA:85112;ORPHA:85128;ORPHA:85138;ORPHA:85162;ORPHA:85163;ORPHA:85164;ORPHA:85165;ORPHA:85166;ORPHA:85167;ORPHA:85168;ORPHA:85169;ORPHA:85170;ORPHA:85172;ORPHA:85173;ORPHA:85174;ORPHA:85175;ORPHA:85179;ORPHA:85184;ORPHA:85188;ORPHA:85193;ORPHA:85194;ORPHA:85197;ORPHA:85198;ORPHA:85199;ORPHA:85201;ORPHA:85202;ORPHA:85203;ORPHA:85212;ORPHA:85273;ORPHA:85274;ORPHA:85275;ORPHA:85276;ORPHA:85277;ORPHA:85278;ORPHA:85279;ORPHA:85280;ORPHA:85282;ORPHA:85284;ORPHA:85285;ORPHA:85286;ORPHA:85287;ORPHA:85288;ORPHA:85290;ORPHA:85292;ORPHA:85293;ORPHA:85294;ORPHA:85295;ORPHA:85297;ORPHA:853;ORPHA:85317;ORPHA:85319;ORPHA:85320;ORPHA:85321;ORPHA:85322;ORPHA:85323;ORPHA:85324;ORPHA:85325;ORPHA:85326;ORPHA:85327;ORPHA:85329;ORPHA:85332;ORPHA:85334;ORPHA:85335;ORPHA:85336;ORPHA:85338;ORPHA:85408;ORPHA:85410;ORPHA:85414;ORPHA:85435;ORPHA:85436;ORPHA:85438;ORPHA:85443;ORPHA:85445;ORPHA:85446;ORPHA:85447;ORPHA:85448;ORPHA:85450;ORPHA:85451;ORPHA:85458;ORPHA:857;ORPHA:858;ORPHA:859;ORPHA:860;ORPHA:861;ORPHA:863;ORPHA:86309;ORPHA:867;ORPHA:86788;ORPHA:868;ORPHA:86812;ORPHA:86814;ORPHA:86816;ORPHA:86818;ORPHA:86820;ORPHA:86822;ORPHA:86839;ORPHA:86841;ORPHA:86843;ORPHA:86884;ORPHA:86893;ORPHA:869;ORPHA:86909;ORPHA:86918;ORPHA:86919;ORPHA:87;ORPHA:870;ORPHA:871;ORPHA:873;ORPHA:87503;ORPHA:87876;ORPHA:87884;ORPHA:88;ORPHA:881;ORPHA:882;ORPHA:884;ORPHA:886;ORPHA:88618;ORPHA:88619;ORPHA:88621;ORPHA:88628;ORPHA:88629;ORPHA:88630;ORPHA:88635;ORPHA:88639;ORPHA:88643;ORPHA:88644;ORPHA:88661;ORPHA:887;ORPHA:888;ORPHA:889;ORPHA:88917;ORPHA:88918;ORPHA:88919;ORPHA:890;ORPHA:891;ORPHA:892;ORPHA:893;ORPHA:894;ORPHA:895;ORPHA:896;ORPHA:897;ORPHA:898;ORPHA:89838;ORPHA:89842;ORPHA:89843;ORPHA:89844;ORPHA:899;ORPHA:89936;ORPHA:89937;ORPHA:89938;ORPHA:9;ORPHA:90;ORPHA:900;ORPHA:90000;ORPHA:90002;ORPHA:90003;ORPHA:90023;ORPHA:90024;ORPHA:90026;ORPHA:90033;ORPHA:90035;ORPHA:90036;ORPHA:90037;ORPHA:90038;ORPHA:90039;ORPHA:90042;ORPHA:90044;ORPHA:90045;ORPHA:90050;ORPHA:90058;ORPHA:90060;ORPHA:90062;ORPHA:90065;ORPHA:90068;ORPHA:90081;ORPHA:901;ORPHA:90103;ORPHA:90117;ORPHA:90153;ORPHA:90154;ORPHA:90156;ORPHA:90157;ORPHA:90158;ORPHA:90159;ORPHA:90160;ORPHA:90186;ORPHA:902;ORPHA:90280;ORPHA:90281;ORPHA:90283;ORPHA:90289;ORPHA:90291;ORPHA:903;ORPHA:90301;ORPHA:90307;ORPHA:90308;ORPHA:90321;ORPHA:90322;ORPHA:90324;ORPHA:90340;ORPHA:90342;ORPHA:90348;ORPHA:90349;ORPHA:90354;ORPHA:90362;ORPHA:90363;ORPHA:90368;ORPHA:904;ORPHA:905;ORPHA:906;ORPHA:90646;ORPHA:90647;ORPHA:90650;ORPHA:90652;ORPHA:90653;ORPHA:90654;ORPHA:90658;ORPHA:90673;ORPHA:90674;ORPHA:90695;ORPHA:90790;ORPHA:90791;ORPHA:90793;ORPHA:90794;ORPHA:90795;ORPHA:90796;ORPHA:90797;ORPHA:908;ORPHA:909;ORPHA:91;ORPHA:910;ORPHA:911;ORPHA:91130;ORPHA:91131;ORPHA:91132;ORPHA:91135;ORPHA:91138;ORPHA:91139;ORPHA:912;ORPHA:913;ORPHA:91347;ORPHA:91348;ORPHA:91349;ORPHA:91350;ORPHA:91351;ORPHA:91354;ORPHA:91355;ORPHA:91359;ORPHA:91387;ORPHA:91412;ORPHA:91414;ORPHA:91416;ORPHA:91495;ORPHA:915;ORPHA:91500;ORPHA:91546;ORPHA:91547;ORPHA:916;ORPHA:920;ORPHA:92050;ORPHA:921;ORPHA:922;ORPHA:926;ORPHA:927;ORPHA:929;ORPHA:93;ORPHA:930;ORPHA:931;ORPHA:93101;ORPHA:93108;ORPHA:93109;ORPHA:93110;ORPHA:93111;ORPHA:93126;ORPHA:93160;ORPHA:932;ORPHA:93256;ORPHA:93258;ORPHA:93259;ORPHA:93260;ORPHA:93262;ORPHA:93267;ORPHA:93271;ORPHA:93274;ORPHA:93283;ORPHA:93284;ORPHA:93296;ORPHA:93298;ORPHA:93299;ORPHA:93302;ORPHA:93304;ORPHA:93307;ORPHA:93308;ORPHA:93311;ORPHA:93314;ORPHA:93315;ORPHA:93316;ORPHA:93317;ORPHA:93320;ORPHA:93321;ORPHA:93322;ORPHA:93323;ORPHA:93324;ORPHA:93325;ORPHA:93328;ORPHA:93329;ORPHA:93333;ORPHA:93346;ORPHA:93351;ORPHA:93352;ORPHA:93356;ORPHA:93357;ORPHA:93360;ORPHA:93383;ORPHA:93384;ORPHA:93387;ORPHA:93388;ORPHA:93394;ORPHA:93396;ORPHA:93397;ORPHA:93399;ORPHA:93400;ORPHA:93402;ORPHA:93403;ORPHA:93404;ORPHA:93405;ORPHA:93406;ORPHA:93409;ORPHA:93473;ORPHA:93474;ORPHA:93476;ORPHA:935;ORPHA:93552;ORPHA:93585;ORPHA:93598;ORPHA:93599;ORPHA:93600;ORPHA:93672;ORPHA:939;ORPHA:93921;ORPHA:93924;ORPHA:93925;ORPHA:93928;ORPHA:93929;ORPHA:93930;ORPHA:93932;ORPHA:93941;ORPHA:93945;ORPHA:93946;ORPHA:93947;ORPHA:93950;ORPHA:93952;ORPHA:93958;ORPHA:94058;ORPHA:94063;ORPHA:94064;ORPHA:94065;ORPHA:94066;ORPHA:94068;ORPHA:94080;ORPHA:94083;ORPHA:94086;ORPHA:94088;ORPHA:94089;ORPHA:94090;ORPHA:94093;ORPHA:941;ORPHA:94122;ORPHA:94124;ORPHA:94125;ORPHA:94147;ORPHA:943;ORPHA:945;ORPHA:949;ORPHA:95;ORPHA:950;ORPHA:95159;ORPHA:952;ORPHA:95232;ORPHA:95409;ORPHA:95427;ORPHA:95428;ORPHA:95429;ORPHA:95430;ORPHA:95433;ORPHA:95434;ORPHA:95455;ORPHA:95459;ORPHA:95494;ORPHA:95496;ORPHA:955;ORPHA:95512;ORPHA:95513;ORPHA:95613;ORPHA:95619;ORPHA:95626;ORPHA:95699;ORPHA:957;ORPHA:95702;ORPHA:95706;ORPHA:95707;ORPHA:95712;ORPHA:95713;ORPHA:95715;ORPHA:95716;ORPHA:95717;ORPHA:95719;ORPHA:95720;ORPHA:958;ORPHA:959;ORPHA:96;ORPHA:96055;ORPHA:96061;ORPHA:96092;ORPHA:96097;ORPHA:96121;ORPHA:96123;ORPHA:96125;ORPHA:96129;ORPHA:96147;ORPHA:96148;ORPHA:96149;ORPHA:96167;ORPHA:96168;ORPHA:96169;ORPHA:96170;ORPHA:96171;ORPHA:96172;ORPHA:96173;ORPHA:96175;ORPHA:96176;ORPHA:96177;ORPHA:96178;ORPHA:96179;ORPHA:96180;ORPHA:96181;ORPHA:96182;ORPHA:96183;ORPHA:96184;ORPHA:96186;ORPHA:96190;ORPHA:96191;ORPHA:96201;ORPHA:96253;ORPHA:96263;ORPHA:96264;ORPHA:963;ORPHA:96334;ORPHA:968;ORPHA:969;ORPHA:97;ORPHA:970;ORPHA:971;ORPHA:972;ORPHA:97214;ORPHA:97229;ORPHA:97230;ORPHA:97234;ORPHA:97240;ORPHA:97244;ORPHA:97261;ORPHA:97278;ORPHA:97279;ORPHA:97280;ORPHA:97282;ORPHA:97283;ORPHA:97285;ORPHA:97286;ORPHA:97287;ORPHA:97289;ORPHA:97290;ORPHA:97292;ORPHA:97297;ORPHA:973;ORPHA:97330;ORPHA:97332;ORPHA:97335;ORPHA:97336;ORPHA:97337;ORPHA:97339;ORPHA:97341;ORPHA:97349;ORPHA:97352;ORPHA:97355;ORPHA:97360;ORPHA:97362;ORPHA:974;ORPHA:97560;ORPHA:976;ORPHA:97685;ORPHA:977;ORPHA:978;ORPHA:98;ORPHA:980;ORPHA:981;ORPHA:983;ORPHA:98434;ORPHA:98673;ORPHA:98754;ORPHA:98755;ORPHA:98756;ORPHA:98757;ORPHA:98758;ORPHA:98759;ORPHA:98760;ORPHA:98761;ORPHA:98762;ORPHA:98763;ORPHA:98764;ORPHA:98765;ORPHA:98766;ORPHA:98767;ORPHA:98768;ORPHA:98769;ORPHA:98771;ORPHA:98772;ORPHA:98773;ORPHA:98784;ORPHA:98791;ORPHA:98793;ORPHA:98794;ORPHA:98795;ORPHA:98797;ORPHA:98798;ORPHA:988;ORPHA:98805;ORPHA:98806;ORPHA:98807;ORPHA:98808;ORPHA:98809;ORPHA:98810;ORPHA:98811;ORPHA:98813;ORPHA:98818;ORPHA:98820;ORPHA:98826;ORPHA:98848;ORPHA:98849;ORPHA:98850;ORPHA:98853;ORPHA:98855;ORPHA:98856;ORPHA:98863;ORPHA:98868;ORPHA:98870;ORPHA:98878;ORPHA:98879;ORPHA:98880;ORPHA:98881;ORPHA:98889;ORPHA:98890;ORPHA:98892;ORPHA:98895;ORPHA:98896;ORPHA:98897;ORPHA:989;ORPHA:98902;ORPHA:98905;ORPHA:98907;ORPHA:98908;ORPHA:98909;ORPHA:98911;ORPHA:98912;ORPHA:98913;ORPHA:98914;ORPHA:98915;ORPHA:98916;ORPHA:98919;ORPHA:98933;ORPHA:98934;ORPHA:98957;ORPHA:98960;ORPHA:98962;ORPHA:98963;ORPHA:98964;ORPHA:98969;ORPHA:98973;ORPHA:98974;ORPHA:98976;ORPHA:98977;ORPHA:990;ORPHA:99000;ORPHA:99013;ORPHA:99014;ORPHA:99015;ORPHA:99027;ORPHA:99050;ORPHA:99094;ORPHA:99095;ORPHA:991;ORPHA:99103;ORPHA:99104;ORPHA:99105;ORPHA:99106;ORPHA:99125;ORPHA:99147;ORPHA:99226;ORPHA:99228;ORPHA:99329;ORPHA:99330;ORPHA:994;ORPHA:99413;ORPHA:99429;ORPHA:99642;ORPHA:99646;ORPHA:99657;ORPHA:99688;ORPHA:99725;ORPHA:99734;ORPHA:99735;ORPHA:99736;ORPHA:99742;ORPHA:99745;ORPHA:99748;ORPHA:99750;ORPHA:99771;ORPHA:99772;ORPHA:99776;ORPHA:99798;ORPHA:998;ORPHA:99802;ORPHA:99803;ORPHA:99811;ORPHA:99812;ORPHA:99819;ORPHA:99824;ORPHA:99825;ORPHA:99826;ORPHA:99827;ORPHA:99828;ORPHA:99829;ORPHA:99832;ORPHA:99843;ORPHA:99845;ORPHA:99849;ORPHA:99852;ORPHA:99857;ORPHA:99867;ORPHA:99868;ORPHA:99879;ORPHA:99880;ORPHA:99885;ORPHA:99886;ORPHA:99889;ORPHA:999;ORPHA:99901;ORPHA:99921;ORPHA:99925;ORPHA:99926;ORPHA:99927;ORPHA:99928;ORPHA:99931;ORPHA:99939;ORPHA:99940;ORPHA:99944;ORPHA:99947;ORPHA:99948;ORPHA:99949;ORPHA:99950;ORPHA:99953;ORPHA:99956;ORPHA:99965;ORPHA:99966;ORPHA:99967;ORPHA:99969;ORPHA:99971;ORPHA:99976;ORPHA:99977;ORPHA:99978;ORPHA:99981	11592	1	0	0	0	11591	
MONDO:0000390	vitelliform macular dystrophy	subtree_only	13									OMIM:153700;OMIM:153840;OMIM:608161;OMIM:616151;OMIM:616152;ORPHA:1243;ORPHA:99000	28	3	10	0	0	25	
MONDO:0000764	epithelial-stromal TGFBI dystrophy	subtree_only	6									OMIM:121820;OMIM:121900;OMIM:122200;OMIM:602082;OMIM:607541;OMIM:608470;OMIM:608471;ORPHA:98960;ORPHA:98962;ORPHA:98963;ORPHA:98964	43	6	0	0	0	37	
MONDO:0000820	cerebral cavernous malformation	subtree_only	4									OMIM:116860;OMIM:603284;OMIM:603285;OMIM:619538;OMIM:621032;ORPHA:221061	40	4	0	0	0	36	
MONDO:0001236	appendiceal neoplasm	subtree_only	4									ORPHA:100079;ORPHA:26790	40	3	0	1	0	37	
MONDO:0001475	neutropenia	subtree_only	2									OMIM:162800;OMIM:193670;OMIM:202700;OMIM:214500;OMIM:216550;OMIM:232220;OMIM:232240;OMIM:257100;OMIM:300299;OMIM:302060;OMIM:604173;OMIM:607624;OMIM:608233;OMIM:610738;OMIM:610798;OMIM:612541;OMIM:613107;OMIM:615285;OMIM:616022;OMIM:617014;OMIM:618752;OMIM:619813;OMIM:620534;OMIM:620674;OMIM:621439;ORPHA:111;ORPHA:167;ORPHA:193;ORPHA:2686;ORPHA:2690;ORPHA:464370;ORPHA:486;ORPHA:51636;ORPHA:79259;ORPHA:79477;ORPHA:86788;ORPHA:90023	513	2	0	0	0	511	
MONDO:0001516	spinal muscular atrophy	subtree_only	36									OMIM:158580;OMIM:158590;OMIM:158600;OMIM:159950;OMIM:181405;OMIM:182960;OMIM:182970;OMIM:182980;OMIM:183020;OMIM:253300;OMIM:253400;OMIM:253550;OMIM:270685;OMIM:271150;OMIM:271200;OMIM:271220;OMIM:277470;OMIM:300489;OMIM:301830;OMIM:600175;OMIM:600794;OMIM:604320;OMIM:605726;OMIM:607088;OMIM:607596;OMIM:607641;OMIM:608634;OMIM:611067;OMIM:612389;OMIM:612390;OMIM:613376;OMIM:613811;OMIM:614678;OMIM:614751;OMIM:614881;OMIM:615048;OMIM:615290;OMIM:615575;OMIM:616081;OMIM:617026;OMIM:617721;OMIM:618291;OMIM:619112;OMIM:620080;OMIM:620528;OMIM:621078;OMIM:621094;ORPHA:100998;ORPHA:1145;ORPHA:1216;ORPHA:139536;ORPHA:209335;ORPHA:2254;ORPHA:2524;ORPHA:2590;ORPHA:276435;ORPHA:363454;ORPHA:70	461	30	5	1	0	431	
MONDO:0002305	thrombophilia	subtree_only	10									OMIM:134400;OMIM:176860;OMIM:188050;OMIM:188055;OMIM:274150;OMIM:300807;OMIM:301071;OMIM:612304;OMIM:612336;OMIM:612348;OMIM:612356;OMIM:613116;OMIM:613118;OMIM:614486;OMIM:614514;ORPHA:49566;ORPHA:54057;ORPHA:743;ORPHA:745;ORPHA:82;ORPHA:93585	142	9	1	0	0	133	
MONDO:0002320	congenital nervous system disorder	subtree_only	23									OMIM:116860;OMIM:117000;OMIM:121050;OMIM:125520;OMIM:135700;OMIM:136480;OMIM:139210;OMIM:142945;OMIM:142946;OMIM:147250;OMIM:147800;OMIM:148050;OMIM:157170;OMIM:157600;OMIM:157640;OMIM:157900;OMIM:158810;OMIM:160500;OMIM:161800;OMIM:163500;OMIM:164100;OMIM:173100;OMIM:176270;OMIM:180849;OMIM:182230;OMIM:182290;OMIM:188400;OMIM:192430;OMIM:193003;OMIM:193700;OMIM:201400;OMIM:204000;OMIM:204100;OMIM:206500;OMIM:207950;OMIM:209880;OMIM:213000;OMIM:214500;OMIM:216550;OMIM:217150;OMIM:217990;OMIM:220111;OMIM:220210;OMIM:221750;OMIM:221900;OMIM:225280;OMIM:235730;OMIM:236100;OMIM:236600;OMIM:236670;OMIM:243000;OMIM:243310;OMIM:247200;OMIM:253280;OMIM:253800;OMIM:254000;OMIM:254090;OMIM:254100;OMIM:254190;OMIM:254210;OMIM:254300;OMIM:255200;OMIM:255310;OMIM:255320;OMIM:255995;OMIM:256030;OMIM:256520;OMIM:257270;OMIM:257320;OMIM:257400;OMIM:258450;OMIM:259770;OMIM:262400;OMIM:262600;OMIM:262650;OMIM:262700;OMIM:269150;OMIM:269160;OMIM:277720;OMIM:277990;OMIM:300049;OMIM:300067;OMIM:300071;OMIM:300200;OMIM:300215;OMIM:300216;OMIM:300218;OMIM:300238;OMIM:300260;OMIM:300262;OMIM:300263;OMIM:300354;OMIM:300388;OMIM:300471;OMIM:300534;OMIM:300589;OMIM:300814;OMIM:300845;OMIM:300868;OMIM:300884;OMIM:300895;OMIM:300957;OMIM:300963;OMIM:300966;OMIM:300967;OMIM:301043;OMIM:301830;OMIM:304340;OMIM:306990;OMIM:307000;OMIM:307200;OMIM:308300;OMIM:309520;OMIM:310500;OMIM:310600;OMIM:310700;OMIM:310800;OMIM:312000;OMIM:314580;OMIM:530000;OMIM:545000;OMIM:600118;OMIM:600334;OMIM:600348;OMIM:601358;OMIM:601419;OMIM:601462;OMIM:601471;OMIM:601634;OMIM:602078;OMIM:602342;OMIM:602541;OMIM:602771;OMIM:603041;OMIM:603284;OMIM:603285;OMIM:603689;OMIM:604145;OMIM:604168;OMIM:604232;OMIM:604393;OMIM:604537;OMIM:604801;OMIM:605039;OMIM:605253;OMIM:605809;OMIM:605822;OMIM:606519;OMIM:606612;OMIM:606854;OMIM:607091;OMIM:607155;OMIM:607371;OMIM:607432;OMIM:607459;OMIM:607855;OMIM:608097;OMIM:608345;OMIM:608358;OMIM:608553;OMIM:608688;OMIM:608807;OMIM:608840;OMIM:608930;OMIM:608931;OMIM:609200;OMIM:609273;OMIM:609283;OMIM:609284;OMIM:609285;OMIM:609286;OMIM:609308;OMIM:609384;OMIM:609452;OMIM:609524;OMIM:609637;OMIM:610031;OMIM:610131;OMIM:610427;OMIM:610444;OMIM:610445;OMIM:610542;OMIM:610543;OMIM:610612;OMIM:610687;OMIM:610828;OMIM:610829;OMIM:611090;OMIM:611588;OMIM:611603;OMIM:611705;OMIM:611726;OMIM:611755;OMIM:611867;OMIM:612001;OMIM:612075;OMIM:612199;OMIM:612530;OMIM:612691;OMIM:612712;OMIM:612781;OMIM:612937;OMIM:613038;OMIM:613077;OMIM:613150;OMIM:613151;OMIM:613152;OMIM:613153;OMIM:613154;OMIM:613155;OMIM:613156;OMIM:613157;OMIM:613158;OMIM:613204;OMIM:613205;OMIM:613341;OMIM:613454;OMIM:613662;OMIM:613684;OMIM:613765;OMIM:613818;OMIM:613826;OMIM:613829;OMIM:613830;OMIM:613835;OMIM:613837;OMIM:613843;OMIM:613986;OMIM:614019;OMIM:614104;OMIM:614186;OMIM:614198;OMIM:614222;OMIM:614225;OMIM:614226;OMIM:614325;OMIM:614508;OMIM:614583;OMIM:614643;OMIM:614750;OMIM:614826;OMIM:614830;OMIM:615006;OMIM:615009;OMIM:615041;OMIM:615042;OMIM:615074;OMIM:615075;OMIM:615120;OMIM:615156;OMIM:615181;OMIM:615191;OMIM:615219;OMIM:615249;OMIM:615287;OMIM:615348;OMIM:615350;OMIM:615351;OMIM:615352;OMIM:615360;OMIM:615419;OMIM:615476;OMIM:615502;OMIM:615544;OMIM:615547;OMIM:615663;OMIM:615731;OMIM:615752;OMIM:615834;OMIM:615859;OMIM:615873;OMIM:615959;OMIM:615988;OMIM:616038;OMIM:616052;OMIM:616059;OMIM:616094;OMIM:616165;OMIM:616202;OMIM:616212;OMIM:616219;OMIM:616224;OMIM:616227;OMIM:616228;OMIM:616258;OMIM:616268;OMIM:616304;OMIM:616313;OMIM:616314;OMIM:616321;OMIM:616322;OMIM:616323;OMIM:616324;OMIM:616325;OMIM:616326;OMIM:616330;OMIM:616342;OMIM:616354;OMIM:616355;OMIM:616364;OMIM:616389;OMIM:616420;OMIM:616457;OMIM:616470;OMIM:616471;OMIM:616479;OMIM:616488;OMIM:616531;OMIM:616538;OMIM:616580;OMIM:616638;OMIM:616720;OMIM:616721;OMIM:616756;OMIM:616789;OMIM:616801;OMIM:616819;OMIM:616852;OMIM:616866;OMIM:616867;OMIM:616900;OMIM:616917;OMIM:616954;OMIM:617061;OMIM:617066;OMIM:617069;OMIM:617070;OMIM:617072;OMIM:617114;OMIM:617157;OMIM:617193;OMIM:617201;OMIM:617232;OMIM:617255;OMIM:617341;OMIM:617404;OMIM:617450;OMIM:617452;OMIM:617520;OMIM:617527;OMIM:617635;OMIM:617672;OMIM:617751;OMIM:617879;OMIM:617967;OMIM:617991;OMIM:618098;OMIM:618135;OMIM:618157;OMIM:618160;OMIM:618174;OMIM:618184;OMIM:618185;OMIM:618186;OMIM:618197;OMIM:618198;OMIM:618264;OMIM:618323;OMIM:618325;OMIM:618379;OMIM:618500;OMIM:618513;OMIM:618548;OMIM:618555;OMIM:618873;OMIM:618918;OMIM:618992;OMIM:619135;OMIM:619179;OMIM:619180;OMIM:619260;OMIM:619326;OMIM:619435;OMIM:619452;OMIM:619461;OMIM:619538;OMIM:619542;OMIM:619780;OMIM:619895;OMIM:620265;OMIM:620303;OMIM:620368;OMIM:620647;OMIM:620725;OMIM:620726;OMIM:620727;OMIM:620728;OMIM:620793;OMIM:621032;OMIM:621078;OMIM:621433;ORPHA:101070;ORPHA:101071;ORPHA:1048;ORPHA:1083;ORPHA:1084;ORPHA:1145;ORPHA:115;ORPHA:1166;ORPHA:1236;ORPHA:1398;ORPHA:1528;ORPHA:1568;ORPHA:157973;ORPHA:167;ORPHA:1671;ORPHA:168572;ORPHA:169186;ORPHA:171430;ORPHA:171433;ORPHA:171436;ORPHA:171439;ORPHA:171442;ORPHA:171445;ORPHA:171680;ORPHA:171829;ORPHA:171881;ORPHA:1762;ORPHA:177901;ORPHA:177904;ORPHA:177907;ORPHA:177910;ORPHA:178145;ORPHA:178148;ORPHA:178464;ORPHA:1875;ORPHA:1897;ORPHA:190;ORPHA:193;ORPHA:1931;ORPHA:1970;ORPHA:199296;ORPHA:199318;ORPHA:200;ORPHA:2053;ORPHA:206559;ORPHA:208441;ORPHA:208444;ORPHA:208447;ORPHA:2148;ORPHA:2152;ORPHA:2162;ORPHA:2177;ORPHA:2182;ORPHA:2185;ORPHA:220386;ORPHA:221061;ORPHA:2215;ORPHA:231720;ORPHA:2332;ORPHA:238722;ORPHA:2429;ORPHA:250977;ORPHA:250999;ORPHA:2510;ORPHA:2514;ORPHA:254881;ORPHA:254886;ORPHA:254892;ORPHA:2560;ORPHA:2570;ORPHA:258;ORPHA:2588;ORPHA:261330;ORPHA:261537;ORPHA:261552;ORPHA:263494;ORPHA:263516;ORPHA:2671;ORPHA:268261;ORPHA:268810;ORPHA:268940;ORPHA:268943;ORPHA:268947;ORPHA:272;ORPHA:2788;ORPHA:280200;ORPHA:280333;ORPHA:280679;ORPHA:2898;ORPHA:293707;ORPHA:293939;ORPHA:298;ORPHA:2995;ORPHA:300573;ORPHA:3051;ORPHA:3055;ORPHA:3079;ORPHA:3080;ORPHA:314034;ORPHA:3157;ORPHA:319332;ORPHA:324422;ORPHA:324604;ORPHA:3270;ORPHA:329178;ORPHA:329224;ORPHA:329314;ORPHA:3378;ORPHA:34515;ORPHA:3454;ORPHA:352470;ORPHA:352479;ORPHA:352490;ORPHA:352665;ORPHA:352682;ORPHA:353277;ORPHA:353281;ORPHA:353284;ORPHA:363611;ORPHA:363623;ORPHA:363686;ORPHA:369891;ORPHA:370968;ORPHA:370980;ORPHA:370997;ORPHA:371364;ORPHA:397709;ORPHA:398069;ORPHA:398079;ORPHA:401923;ORPHA:404448;ORPHA:404473;ORPHA:411986;ORPHA:424107;ORPHA:42775;ORPHA:444072;ORPHA:452;ORPHA:453499;ORPHA:453504;ORPHA:453510;ORPHA:457193;ORPHA:457240;ORPHA:457279;ORPHA:457485;ORPHA:459070;ORPHA:464;ORPHA:464282;ORPHA:464288;ORPHA:464306;ORPHA:464311;ORPHA:466688;ORPHA:466791;ORPHA:468678;ORPHA:468699;ORPHA:476126;ORPHA:480;ORPHA:480898;ORPHA:480907;ORPHA:481152;ORPHA:48431;ORPHA:486815;ORPHA:487825;ORPHA:488632;ORPHA:488635;ORPHA:488642;ORPHA:495818;ORPHA:495875;ORPHA:496641;ORPHA:500159;ORPHA:500166;ORPHA:500180;ORPHA:502434;ORPHA:505237;ORPHA:521426;ORPHA:531;ORPHA:536516;ORPHA:544503;ORPHA:551;ORPHA:561854;ORPHA:563609;ORPHA:563612;ORPHA:567;ORPHA:570;ORPHA:572013;ORPHA:588;ORPHA:589905;ORPHA:59135;ORPHA:597;ORPHA:598;ORPHA:609;ORPHA:610;ORPHA:631;ORPHA:63260;ORPHA:649;ORPHA:65;ORPHA:661;ORPHA:7;ORPHA:70472;ORPHA:70595;ORPHA:71213;ORPHA:739;ORPHA:75840;ORPHA:776;ORPHA:783;ORPHA:79107;ORPHA:79332;ORPHA:798;ORPHA:799;ORPHA:819;ORPHA:85194;ORPHA:85273;ORPHA:85274;ORPHA:85279;ORPHA:85280;ORPHA:85286;ORPHA:85287;ORPHA:85293;ORPHA:85317;ORPHA:85319;ORPHA:85322;ORPHA:85325;ORPHA:85326;ORPHA:85329;ORPHA:858;ORPHA:86812;ORPHA:86822;ORPHA:89844;ORPHA:899;ORPHA:90695;ORPHA:91495;ORPHA:916;ORPHA:93924;ORPHA:93925;ORPHA:95232;ORPHA:95494;ORPHA:95702;ORPHA:97240;ORPHA:97244;ORPHA:97297;ORPHA:98754;ORPHA:98793;ORPHA:98889;ORPHA:98892;ORPHA:98905;ORPHA:98909;ORPHA:98911;ORPHA:98912;ORPHA:98913	2920	23	0	0	0	2897	
MONDO:0002429	idiopathic interstitial pneumonia	subtree_only	10									OMIM:247610;OMIM:263000;ORPHA:1302;ORPHA:2032;ORPHA:79126;ORPHA:79127;ORPHA:79128	96	9	1	0	0	87	
MONDO:0004737	homocystinuria	subtree_only	40									OMIM:236200;OMIM:236250;OMIM:236270;OMIM:250940;OMIM:277380;OMIM:277400;OMIM:277410;OMIM:309541;OMIM:614857;OMIM:620940;OMIM:620952;ORPHA:2169;ORPHA:26;ORPHA:394;ORPHA:395;ORPHA:622;ORPHA:79282;ORPHA:79283;ORPHA:79284	309	40	0	0	0	269	
MONDO:0004739	urea cycle disorder	subtree_only	14									OMIM:207800;OMIM:207900;OMIM:210200;OMIM:215700;OMIM:237300;OMIM:237310;OMIM:238970;OMIM:311250;OMIM:603471;OMIM:605814;OMIM:606762;OMIM:615751;ORPHA:147;ORPHA:23;ORPHA:247525;ORPHA:247585;ORPHA:247598;ORPHA:35878;ORPHA:415;ORPHA:664;ORPHA:90;ORPHA:927	293	13	1	0	0	280	
MONDO:0004952	Hodgkins lymphoma	subtree_only	4									OMIM:236000;ORPHA:391;ORPHA:86893	40	4	0	0	0	36	
MONDO:0004959	plasma cell neoplasm	subtree_only	8									OMIM:254500;ORPHA:100024;ORPHA:100025;ORPHA:100026;ORPHA:29073	64	6	0	2	0	58	
MONDO:0004975	Alzheimer disease	subtree_only	7									OMIM:104300;OMIM:104310;OMIM:602096;OMIM:605055;OMIM:606889;OMIM:607822;OMIM:609636;OMIM:615080;ORPHA:1020	59	5	2	0	0	54	
MONDO:0004981	atrial fibrillation	subtree_only	7									OMIM:607554;OMIM:608583;OMIM:608988;OMIM:611493;OMIM:611494;OMIM:612201;OMIM:612240;OMIM:613055;OMIM:613980;OMIM:614022;OMIM:614049;OMIM:614050;OMIM:615377;OMIM:615378;OMIM:615770;OMIM:617280;ORPHA:334	48	7	0	0	0	41	
MONDO:0005003	chronic pancreatitis	subtree_only	5									OMIM:167800;OMIM:608189;ORPHA:103918;ORPHA:676	30	4	0	1	0	26	
MONDO:0005021	dilated cardiomyopathy	subtree_only	8									OMIM:115200;OMIM:181350;OMIM:212080;OMIM:253700;OMIM:300695;OMIM:300696;OMIM:301163;OMIM:302045;OMIM:302060;OMIM:310300;OMIM:500001;OMIM:530000;OMIM:535000;OMIM:600884;OMIM:601154;OMIM:601287;OMIM:601419;OMIM:601493;OMIM:601494;OMIM:604145;OMIM:604286;OMIM:604288;OMIM:604765;OMIM:605362;OMIM:605582;OMIM:606685;OMIM:607482;OMIM:607487;OMIM:608099;OMIM:608358;OMIM:608569;OMIM:609909;OMIM:609915;OMIM:610768;OMIM:611407;OMIM:611588;OMIM:611615;OMIM:611705;OMIM:611878;OMIM:611879;OMIM:611880;OMIM:612158;OMIM:612877;OMIM:612998;OMIM:612999;OMIM:613122;OMIM:613172;OMIM:613252;OMIM:613286;OMIM:613424;OMIM:613426;OMIM:613642;OMIM:613694;OMIM:613697;OMIM:613881;OMIM:614302;OMIM:614672;OMIM:614921;OMIM:615184;OMIM:615235;OMIM:615248;OMIM:615373;OMIM:615396;OMIM:615916;OMIM:616516;OMIM:616827;OMIM:618189;OMIM:619371;OMIM:619492;OMIM:619747;OMIM:619897;OMIM:620203;OMIM:620247;OMIM:620462;OMIM:620635;OMIM:620894;OMIM:621237;OMIM:621251;OMIM:621261;ORPHA:104;ORPHA:111;ORPHA:119;ORPHA:137675;ORPHA:154;ORPHA:206546;ORPHA:217622;ORPHA:219;ORPHA:261;ORPHA:300751;ORPHA:353;ORPHA:480;ORPHA:563;ORPHA:62;ORPHA:91131;ORPHA:98853;ORPHA:98855;ORPHA:98863;ORPHA:98909	541	8	0	0	0	533	
MONDO:0005027	epilepsy	subtree_only	27									OMIM:117100;OMIM:121200;OMIM:121201;OMIM:132090;OMIM:132100;OMIM:132300;OMIM:159600;OMIM:235730;OMIM:245570;OMIM:254770;OMIM:254780;OMIM:254800;OMIM:254900;OMIM:266100;OMIM:300088;OMIM:300423;OMIM:300491;OMIM:300607;OMIM:300643;OMIM:300672;OMIM:300673;OMIM:300868;OMIM:300884;OMIM:301044;OMIM:301058;OMIM:301091;OMIM:308350;OMIM:545000;OMIM:600512;OMIM:600513;OMIM:600669;OMIM:601068;OMIM:601764;OMIM:602066;OMIM:603204;OMIM:604218;OMIM:604233;OMIM:604364;OMIM:604403;OMIM:605021;OMIM:605375;OMIM:605751;OMIM:606777;OMIM:607208;OMIM:607681;OMIM:607745;OMIM:607876;OMIM:608096;OMIM:608105;OMIM:608217;OMIM:609304;OMIM:609446;OMIM:609800;OMIM:610003;OMIM:610090;OMIM:610353;OMIM:611087;OMIM:611630;OMIM:611631;OMIM:611726;OMIM:612126;OMIM:612164;OMIM:612437;OMIM:612621;OMIM:612949;OMIM:613339;OMIM:613402;OMIM:613477;OMIM:613608;OMIM:613720;OMIM:613721;OMIM:613722;OMIM:613863;OMIM:614018;OMIM:614322;OMIM:614417;OMIM:614498;OMIM:614558;OMIM:614959;OMIM:615005;OMIM:615006;OMIM:615127;OMIM:615338;OMIM:615369;OMIM:615400;OMIM:615473;OMIM:615476;OMIM:615697;OMIM:615705;OMIM:615744;OMIM:615833;OMIM:615859;OMIM:615871;OMIM:615905;OMIM:616056;OMIM:616139;OMIM:616172;OMIM:616187;OMIM:616211;OMIM:616230;OMIM:616339;OMIM:616341;OMIM:616346;OMIM:616366;OMIM:616409;OMIM:616421;OMIM:616436;OMIM:616457;OMIM:616461;OMIM:616540;OMIM:616640;OMIM:616645;OMIM:616647;OMIM:616756;OMIM:616949;OMIM:616981;OMIM:617020;OMIM:617065;OMIM:617080;OMIM:617105;OMIM:617106;OMIM:617113;OMIM:617116;OMIM:617118;OMIM:617132;OMIM:617153;OMIM:617162;OMIM:617166;OMIM:617276;OMIM:617281;OMIM:617290;OMIM:617339;OMIM:617350;OMIM:617389;OMIM:617391;OMIM:617393;OMIM:617452;OMIM:617599;OMIM:617665;OMIM:617711;OMIM:617771;OMIM:617829;OMIM:617830;OMIM:617904;OMIM:617929;OMIM:617933;OMIM:617935;OMIM:617938;OMIM:617976;OMIM:618004;OMIM:618008;OMIM:618012;OMIM:618067;OMIM:618074;OMIM:618075;OMIM:618141;OMIM:618201;OMIM:618285;OMIM:618298;OMIM:618328;OMIM:618374;OMIM:618379;OMIM:618396;OMIM:618437;OMIM:618468;OMIM:618482;OMIM:618548;OMIM:618557;OMIM:618559;OMIM:618580;OMIM:618663;OMIM:618721;OMIM:618744;OMIM:618792;OMIM:618876;OMIM:618910;OMIM:618916;OMIM:618959;OMIM:619124;OMIM:619191;OMIM:619317;OMIM:619340;OMIM:619561;OMIM:619605;OMIM:619606;OMIM:619777;OMIM:619814;OMIM:619881;OMIM:619913;OMIM:619970;OMIM:619983;OMIM:620028;OMIM:620033;OMIM:620115;OMIM:620145;OMIM:620149;OMIM:620352;OMIM:620504;OMIM:620537;OMIM:620681;OMIM:620719;OMIM:620755;OMIM:620772;OMIM:620774;OMIM:620783;OMIM:620806;OMIM:621250;OMIM:621304;OMIM:621468;OMIM:621475;OMIM:621500;ORPHA:101046;ORPHA:139426;ORPHA:139431;ORPHA:140927;ORPHA:163703;ORPHA:163721;ORPHA:163727;ORPHA:163985;ORPHA:1929;ORPHA:1934;ORPHA:1941;ORPHA:1942;ORPHA:1945;ORPHA:1947;ORPHA:1949;ORPHA:209370;ORPHA:2152;ORPHA:2382;ORPHA:261537;ORPHA:261552;ORPHA:263516;ORPHA:284282;ORPHA:289266;ORPHA:293181;ORPHA:3006;ORPHA:306;ORPHA:307;ORPHA:308;ORPHA:3173;ORPHA:324290;ORPHA:324422;ORPHA:352596;ORPHA:363549;ORPHA:363558;ORPHA:36387;ORPHA:404493;ORPHA:404499;ORPHA:411986;ORPHA:439218;ORPHA:442835;ORPHA:464282;ORPHA:500533;ORPHA:500545;ORPHA:501;ORPHA:505237;ORPHA:505652;ORPHA:544254;ORPHA:544503;ORPHA:551;ORPHA:599373;ORPHA:64280;ORPHA:697160;ORPHA:71277;ORPHA:725;ORPHA:79096;ORPHA:79097;ORPHA:79137;ORPHA:85294;ORPHA:86814;ORPHA:86909;ORPHA:93952;ORPHA:98784;ORPHA:98811;ORPHA:98818;ORPHA:98820	1247	24	3	0	0	1223	
MONDO:0005041	glaucoma	subtree_only	5									OMIM:137750;OMIM:137760;OMIM:177700;OMIM:231300;OMIM:600975;OMIM:601631;OMIM:601682;OMIM:610535;OMIM:613086;OMIM:613100;OMIM:617272;OMIM:617315;OMIM:618880;ORPHA:94058;ORPHA:98976;ORPHA:98977	71	3	1	1	0	68	
MONDO:0005045	hypertrophic cardiomyopathy	subtree_only	10									OMIM:115150;OMIM:115195;OMIM:115196;OMIM:115197;OMIM:130650;OMIM:151100;OMIM:154230;OMIM:160900;OMIM:163950;OMIM:192600;OMIM:201475;OMIM:218040;OMIM:231680;OMIM:233420;OMIM:273250;OMIM:300018;OMIM:400044;OMIM:600858;OMIM:601493;OMIM:605275;OMIM:607080;OMIM:607487;OMIM:607721;OMIM:608751;OMIM:608758;OMIM:609016;OMIM:609942;OMIM:610733;OMIM:610773;OMIM:611431;OMIM:611553;OMIM:611554;OMIM:612098;OMIM:612124;OMIM:612965;OMIM:613080;OMIM:613224;OMIM:613243;OMIM:613251;OMIM:613255;OMIM:613690;OMIM:613706;OMIM:613707;OMIM:613762;OMIM:613765;OMIM:613838;OMIM:613873;OMIM:613874;OMIM:613876;OMIM:614279;OMIM:614676;OMIM:615248;OMIM:615278;OMIM:615279;OMIM:615280;OMIM:615355;OMIM:616067;OMIM:616425;OMIM:616559;OMIM:616564;OMIM:617047;OMIM:617506;OMIM:618052;OMIM:618499;OMIM:618624;OMIM:619087;OMIM:619402;OMIM:619745;OMIM:620236;OMIM:620734;OMIM:621270;ORPHA:116;ORPHA:1340;ORPHA:137605;ORPHA:168563;ORPHA:242;ORPHA:26791;ORPHA:26793;ORPHA:2701;ORPHA:273;ORPHA:3071;ORPHA:5;ORPHA:500;ORPHA:589821;ORPHA:648;ORPHA:85443;ORPHA:91130;ORPHA:983	957	10	0	0	0	947	
MONDO:0005062	lymphoma	subtree_only	4									OMIM:113970;OMIM:137245;OMIM:151400;OMIM:153600;OMIM:236000;OMIM:247640;OMIM:254400;OMIM:254500;OMIM:605027;OMIM:618398;ORPHA:100024;ORPHA:100025;ORPHA:100026;ORPHA:2584;ORPHA:29073;ORPHA:3162;ORPHA:33111;ORPHA:33226;ORPHA:391;ORPHA:48686;ORPHA:52416;ORPHA:52417;ORPHA:543;ORPHA:545;ORPHA:86884;ORPHA:86893;ORPHA:97285	215	4	0	0	0	211	
MONDO:0005138	lung carcinoma	subtree_only	4									OMIM:182280;OMIM:601200;ORPHA:64741	13	4	0	0	0	9	
MONDO:0005149	pulmonary hypertension	subtree_only	10									OMIM:178600;OMIM:265400;OMIM:613845;OMIM:615342;OMIM:615343;OMIM:615344;OMIM:620777;OMIM:621248;ORPHA:275766;ORPHA:422;ORPHA:52047;ORPHA:70591;ORPHA:97214	197	10	0	0	0	187	
MONDO:0005180	Parkinson disease	subtree_only	12									OMIM:168600;OMIM:168601;OMIM:260300;OMIM:600116;OMIM:605543;OMIM:605909;OMIM:606324;OMIM:606693;OMIM:607060;OMIM:612953;OMIM:614203;OMIM:615528;OMIM:615530;OMIM:616361;OMIM:616710;OMIM:616840;OMIM:620482;ORPHA:171695;ORPHA:199351;ORPHA:2828;ORPHA:306674;ORPHA:314632;ORPHA:411602	182	11	1	0	0	171	
MONDO:0005201	restrictive cardiomyopathy	subtree_only	9									OMIM:108770;OMIM:115210;OMIM:230800;OMIM:232300;OMIM:607685;OMIM:612422;OMIM:615248;OMIM:615745;OMIM:619433;OMIM:621314;ORPHA:1344;ORPHA:308552;ORPHA:3260;ORPHA:330001;ORPHA:365;ORPHA:724;ORPHA:75565;ORPHA:75566;ORPHA:77259;ORPHA:85443;ORPHA:85445;ORPHA:85451	397	9	0	0	0	388	
MONDO:0005340	alopecia areata	subtree_only	5									OMIM:104000	7	5	0	0	0	2	
MONDO:0005380	osteonecrosis	subtree_only	5									OMIM:150600;OMIM:165700;OMIM:165800;OMIM:181440;OMIM:182260;OMIM:230800;OMIM:274270;OMIM:608805;OMIM:612462;OMIM:613116;OMIM:613118;OMIM:617383;ORPHA:1675;ORPHA:2380;ORPHA:2764;ORPHA:3314;ORPHA:399180;ORPHA:563991;ORPHA:564003;ORPHA:57196;ORPHA:77259;ORPHA:79444;ORPHA:82;ORPHA:86820;ORPHA:97332;ORPHA:97335;ORPHA:97336;ORPHA:97337	308	5	0	0	0	303	
MONDO:0005382	bone Paget disease	subtree_only	7									OMIM:167250;OMIM:239000;OMIM:602080;OMIM:606263;OMIM:616833;ORPHA:2801	75	7	0	0	0	68	
MONDO:0005453	congenital heart disease	subtree_only	19									OMIM:106700;OMIM:108800;OMIM:108900;OMIM:109730;OMIM:169100;OMIM:187500;OMIM:241550;OMIM:265380;OMIM:601493;OMIM:601494;OMIM:604169;OMIM:607411;OMIM:607941;OMIM:609470;OMIM:611363;OMIM:611878;OMIM:612794;OMIM:613087;OMIM:613424;OMIM:613426;OMIM:613854;OMIM:614089;OMIM:614429;OMIM:614430;OMIM:614431;OMIM:614432;OMIM:614433;OMIM:614435;OMIM:614474;OMIM:614475;OMIM:614954;OMIM:614980;OMIM:615092;OMIM:615373;OMIM:615396;OMIM:615779;OMIM:616028;OMIM:617035;OMIM:617039;OMIM:617912;OMIM:619657;OMIM:620294;ORPHA:1209;ORPHA:1329;ORPHA:1330;ORPHA:1354;ORPHA:1478;ORPHA:1479;ORPHA:1666;ORPHA:185;ORPHA:2041;ORPHA:210122;ORPHA:2248;ORPHA:3303;ORPHA:3384;ORPHA:3426;ORPHA:46627;ORPHA:860;ORPHA:99103;ORPHA:99104;ORPHA:99105;ORPHA:99106;ORPHA:99125	420	16	2	1	0	404	
MONDO:0005492	urticaria	subtree_only	3									OMIM:106100;OMIM:125630;OMIM:154800;OMIM:155900;OMIM:178995;OMIM:191850;OMIM:191950;OMIM:610618;OMIM:619360;OMIM:619361;OMIM:619363;OMIM:619366;OMIM:619367;ORPHA:100050;ORPHA:100057;ORPHA:139402;ORPHA:2483;ORPHA:280785;ORPHA:280794;ORPHA:528623;ORPHA:528647;ORPHA:64745;ORPHA:79455;ORPHA:79456;ORPHA:79457	154	3	0	0	0	151	
MONDO:0005803	hyperinsulinemic hypoglycemia	subtree_only	17									OMIM:256450;OMIM:601820;OMIM:602485;OMIM:606762;OMIM:609968;OMIM:609975;OMIM:610021;OMIM:620211;ORPHA:263455;ORPHA:263458;ORPHA:276556;ORPHA:276575;ORPHA:276580;ORPHA:276608;ORPHA:324575;ORPHA:35878;ORPHA:411593;ORPHA:71212;ORPHA:79299;ORPHA:79644	139	16	1	0	0	123	
MONDO:0005923	Pneumocystis infectious disease	subtree_only	3									ORPHA:723	23	2	0	1	0	21	
MONDO:0006009	viral encephalitis	subtree_only	11									OMIM:260470;ORPHA:1930;ORPHA:2806;ORPHA:297;ORPHA:79139;ORPHA:83600	182	8	3	0	0	174	
MONDO:0006058	Wilms tumor	subtree_only	7									OMIM:194070;OMIM:194071;OMIM:194090;OMIM:601363;OMIM:601583;OMIM:616806;OMIM:621332;ORPHA:654	32	6	0	1	0	26	
MONDO:0006541	epidermolysis bullosa	subtree_only	10									OMIM:131705;OMIM:131750;OMIM:131760;OMIM:131800;OMIM:131850;OMIM:131900;OMIM:131950;OMIM:131960;OMIM:173650;OMIM:226500;OMIM:226600;OMIM:226650;OMIM:226670;OMIM:226700;OMIM:226730;OMIM:245660;OMIM:601001;OMIM:604129;OMIM:604536;OMIM:609057;OMIM:609352;OMIM:609638;OMIM:612138;OMIM:614748;OMIM:615028;OMIM:615425;OMIM:616487;OMIM:617294;OMIM:619555;OMIM:619588;OMIM:619594;OMIM:619599;OMIM:619783;OMIM:619784;OMIM:619785;OMIM:619786;OMIM:619787;OMIM:619816;OMIM:619817;ORPHA:158668;ORPHA:158673;ORPHA:158676;ORPHA:158681;ORPHA:158684;ORPHA:158687;ORPHA:231568;ORPHA:2325;ORPHA:2407;ORPHA:251393;ORPHA:257;ORPHA:2907;ORPHA:2908;ORPHA:46487;ORPHA:79396;ORPHA:79397;ORPHA:79399;ORPHA:79400;ORPHA:79401;ORPHA:79402;ORPHA:79403;ORPHA:79404;ORPHA:79405;ORPHA:79406;ORPHA:79408;ORPHA:79409;ORPHA:79410;ORPHA:79411;ORPHA:89838;ORPHA:89842;ORPHA:89843	454	8	1	1	0	446	
MONDO:0007239	epidermolytic ichthyosis	subtree_only	7									OMIM:113800;OMIM:607602;OMIM:620148;OMIM:620150;OMIM:620707;ORPHA:312	32	6	1	0	0	26	
MONDO:0011429	juvenile idiopathic arthritis	subtree_only	35									ORPHA:85408;ORPHA:85410;ORPHA:85414;ORPHA:85435;ORPHA:85436;ORPHA:85438	103	35	0	0	0	68	
MONDO:0013600	insomnia	subtree_only	3									OMIM:600072;ORPHA:466	39	1	2	0	0	38	
MONDO:0015128	primary adrenal insufficiency	subtree_only	12									OMIM:201710;OMIM:201810;OMIM:201910;OMIM:202010;OMIM:202110;OMIM:202150;OMIM:202200;OMIM:202355;OMIM:231550;OMIM:240200;OMIM:300200;OMIM:607398;OMIM:609197;OMIM:613571;OMIM:614736;OMIM:617825;ORPHA:289548;ORPHA:361;ORPHA:85138;ORPHA:869;ORPHA:90790;ORPHA:90791;ORPHA:90793;ORPHA:90794;ORPHA:90795;ORPHA:95409;ORPHA:95699;ORPHA:95702	360	12	0	0	0	348	
MONDO:0015150	complex hereditary spastic paraplegia	subtree_only	10									OMIM:182815;OMIM:256840;OMIM:270685;OMIM:270700;OMIM:270750;OMIM:275900;OMIM:303350;OMIM:601162;OMIM:604360;OMIM:607584;OMIM:608220;OMIM:609041;OMIM:609195;OMIM:609541;OMIM:609727;OMIM:611225;OMIM:611252;OMIM:611302;OMIM:612020;OMIM:612335;OMIM:613096;OMIM:613162;OMIM:613206;OMIM:614409;OMIM:614898;OMIM:615031;OMIM:615033;OMIM:615035;OMIM:615043;OMIM:615658;OMIM:615683;OMIM:615685;OMIM:615686;OMIM:616281;OMIM:616451;OMIM:616586;OMIM:616680;OMIM:616756;OMIM:616907;OMIM:617225;OMIM:617296;OMIM:619621;OMIM:619686;OMIM:619735;OMIM:620323;OMIM:620512;ORPHA:100996;ORPHA:100998;ORPHA:101000;ORPHA:101003;ORPHA:101004;ORPHA:101005;ORPHA:101006;ORPHA:101007;ORPHA:101009;ORPHA:139480;ORPHA:139578;ORPHA:171617;ORPHA:171622;ORPHA:209951;ORPHA:2466;ORPHA:2818;ORPHA:2819;ORPHA:2820;ORPHA:2821;ORPHA:2822;ORPHA:2826;ORPHA:319199;ORPHA:320360;ORPHA:320365;ORPHA:320370;ORPHA:320375;ORPHA:320380;ORPHA:320385;ORPHA:320391;ORPHA:320396;ORPHA:320401;ORPHA:320406;ORPHA:329308;ORPHA:329475;ORPHA:397946;ORPHA:401780;ORPHA:401795;ORPHA:401800;ORPHA:401805;ORPHA:401810;ORPHA:401815;ORPHA:401820;ORPHA:401830;ORPHA:401835;ORPHA:431329;ORPHA:447753;ORPHA:447757;ORPHA:447760;ORPHA:459056;ORPHA:464282;ORPHA:468661;ORPHA:477673;ORPHA:488594;ORPHA:496689;ORPHA:506353;ORPHA:513436;ORPHA:521390	558	9	1	0	0	549	
MONDO:0015151	muscular dystrophy, limb-girdle, autosomal dominant	subtree_only	6									OMIM:181350;OMIM:603511;OMIM:608423;OMIM:609115;OMIM:609200;OMIM:613530;OMIM:618129;ORPHA:34516;ORPHA:98911	138	6	0	0	0	132	
MONDO:0015152	autosomal recessive limb-girdle muscular dystrophy	subtree_only	10									OMIM:226670;OMIM:253600;OMIM:253601;OMIM:253700;OMIM:254110;OMIM:601287;OMIM:601954;OMIM:604286;OMIM:607155;OMIM:608099;OMIM:608807;OMIM:609308;OMIM:611307;OMIM:611588;OMIM:613157;OMIM:613158;OMIM:613723;OMIM:613818;OMIM:615352;OMIM:615356;OMIM:616052;OMIM:616094;OMIM:616812;OMIM:616827;OMIM:617072;OMIM:617232;OMIM:618135;OMIM:618138;OMIM:618848;OMIM:619566;OMIM:620375;OMIM:620793;ORPHA:119;ORPHA:1878;ORPHA:206549;ORPHA:206559;ORPHA:219;ORPHA:254361;ORPHA:257;ORPHA:267;ORPHA:268;ORPHA:280333;ORPHA:34515;ORPHA:352479;ORPHA:353;ORPHA:363623;ORPHA:369840;ORPHA:62;ORPHA:86812	333	10	0	0	0	323	
MONDO:0015168	arthrogryposis multiplex congenita	subtree_only	5									OMIM:201550;OMIM:208085;OMIM:208100;OMIM:208150;OMIM:208155;OMIM:208158;OMIM:217150;OMIM:248700;OMIM:300073;OMIM:301041;OMIM:301127;OMIM:301830;OMIM:314580;OMIM:600920;OMIM:611890;OMIM:613404;OMIM:616258;OMIM:616286;OMIM:616287;OMIM:616866;OMIM:616867;OMIM:617468;OMIM:618186;OMIM:618388;OMIM:618389;OMIM:618393;OMIM:618484;OMIM:618766;OMIM:618947;OMIM:619334;ORPHA:1143;ORPHA:1145;ORPHA:1149;ORPHA:1150;ORPHA:2215;ORPHA:2460;ORPHA:2461;ORPHA:2547;ORPHA:2680;ORPHA:2697;ORPHA:319332;ORPHA:3454;ORPHA:994	544	5	0	0	0	539	
MONDO:0015362	neuronopathy, distal hereditary motor, autosomal dominant	subtree_only	8									OMIM:158580;OMIM:158590;OMIM:182960;OMIM:270685;OMIM:600175;OMIM:600794;OMIM:607641;OMIM:608634;OMIM:613376;OMIM:614751;OMIM:615575;OMIM:617721;OMIM:619112;OMIM:620080;OMIM:620528;OMIM:621078;OMIM:621094;ORPHA:100998;ORPHA:1216;ORPHA:139536	197	7	1	0	0	190	
MONDO:0015363	neuronopathy, distal hereditary motor, autosomal recessive	subtree_only	9									OMIM:604320;OMIM:605726;OMIM:607088;OMIM:611067;OMIM:614881;OMIM:618912;OMIM:619216;OMIM:620011;OMIM:620402;OMIM:620542;OMIM:620854;ORPHA:496756	144	8	0	1	0	136	
MONDO:0015364	hereditary sensory and autonomic neuropathy	subtree_only	10									OMIM:147430;OMIM:162400;OMIM:201300;OMIM:207740;OMIM:243000;OMIM:256800;OMIM:272430;OMIM:300614;OMIM:310470;OMIM:608654;OMIM:610313;OMIM:613115;OMIM:613640;OMIM:613708;OMIM:614116;OMIM:614213;OMIM:614575;OMIM:614653;OMIM:615548;OMIM:615632;OMIM:616488;OMIM:617055;ORPHA:1545;ORPHA:2926;ORPHA:36386;ORPHA:453510;ORPHA:504476;ORPHA:642;ORPHA:64752;ORPHA:970	343	10	0	0	0	333	
MONDO:0015461	short rib-polydactyly syndrome	subtree_only	19									OMIM:208500;OMIM:218330;OMIM:225500;OMIM:263520;OMIM:266920;OMIM:269860;OMIM:611263;OMIM:613091;OMIM:613610;OMIM:613819;OMIM:614091;OMIM:614099;OMIM:614376;OMIM:614378;OMIM:615503;OMIM:615630;OMIM:615633;OMIM:615636;OMIM:616300;OMIM:616546;OMIM:617088;OMIM:617102;OMIM:617405;OMIM:617866;OMIM:617895;OMIM:617925;OMIM:619479;OMIM:621180;OMIM:621260;OMIM:621337;ORPHA:1515;ORPHA:289;ORPHA:397715;ORPHA:474;ORPHA:93271	579	19	0	0	0	560	
MONDO:0015518	infantile bilateral striatal necrosis	subtree_only	5									OMIM:271930;OMIM:500003;ORPHA:225147;ORPHA:225154	88	3	0	2	0	85	
MONDO:0015626	Charcot-Marie-Tooth disease	subtree_only	4									OMIM:118200;OMIM:118210;OMIM:118220;OMIM:118300;OMIM:145900;OMIM:182960;OMIM:214400;OMIM:300905;OMIM:302800;OMIM:302801;OMIM:302802;OMIM:310490;OMIM:311070;OMIM:500013;OMIM:600882;OMIM:601098;OMIM:601152;OMIM:601382;OMIM:601455;OMIM:601472;OMIM:601596;OMIM:604563;OMIM:605253;OMIM:605285;OMIM:605588;OMIM:605589;OMIM:606071;OMIM:606482;OMIM:606483;OMIM:606595;OMIM:607677;OMIM:607678;OMIM:607684;OMIM:607706;OMIM:607731;OMIM:607734;OMIM:607736;OMIM:607791;OMIM:607831;OMIM:608323;OMIM:608340;OMIM:608673;OMIM:609260;OMIM:609311;OMIM:610100;OMIM:611228;OMIM:613287;OMIM:613641;OMIM:614228;OMIM:614436;OMIM:614455;OMIM:614895;OMIM:615025;OMIM:615185;OMIM:615284;OMIM:615376;OMIM:615490;OMIM:616039;OMIM:616155;OMIM:616280;OMIM:616491;OMIM:616625;OMIM:616668;OMIM:616684;OMIM:616687;OMIM:616688;OMIM:616924;OMIM:617017;OMIM:617087;OMIM:617882;OMIM:618036;OMIM:618279;OMIM:618400;OMIM:619519;OMIM:619574;OMIM:619742;OMIM:619764;OMIM:620068;OMIM:620111;OMIM:620378;OMIM:621095;OMIM:621466;OMIM:621485;OMIM:621488;ORPHA:101075;ORPHA:101076;ORPHA:101077;ORPHA:101078;ORPHA:101081;ORPHA:101082;ORPHA:101085;ORPHA:101097;ORPHA:352675;ORPHA:435387;ORPHA:466768;ORPHA:488333;ORPHA:90658;ORPHA:98856;ORPHA:99014;ORPHA:99939;ORPHA:99940;ORPHA:99944;ORPHA:99947;ORPHA:99948;ORPHA:99949;ORPHA:99950;ORPHA:99953;ORPHA:99956	466	4	0	0	0	462	
MONDO:0015760	T-cell non-Hodgkin lymphoma	subtree_only	6									OMIM:254400;OMIM:618398;ORPHA:2584;ORPHA:33111;ORPHA:86884	60	6	0	0	0	54	
MONDO:0015797	UV-sensitive syndrome	subtree_only	4									OMIM:600630;OMIM:614621;OMIM:614640	11	4	0	0	0	7	
MONDO:0015802	autosomal dominant non-syndromic intellectual disability	subtree_only	7									OMIM:612337;OMIM:613443;OMIM:616311;OMIM:616351;OMIM:616944;OMIM:616977;OMIM:617600;OMIM:617601;OMIM:617635;OMIM:617752;OMIM:617787;OMIM:617788;OMIM:617798;OMIM:617799;OMIM:617808;OMIM:617831;OMIM:617854;OMIM:618009;OMIM:618050;OMIM:618106;OMIM:618522;OMIM:618587;OMIM:618793;OMIM:618825;OMIM:620450;ORPHA:502434	461	7	0	0	0	454	
MONDO:0015947	inherited ichthyosis	subtree_only	9									OMIM:113800;OMIM:146590;OMIM:146600;OMIM:146700;OMIM:146800;OMIM:212400;OMIM:242100;OMIM:242300;OMIM:242500;OMIM:256500;OMIM:270300;OMIM:308100;OMIM:308205;OMIM:601277;OMIM:602400;OMIM:604777;OMIM:606545;OMIM:607602;OMIM:607626;OMIM:607936;OMIM:609165;OMIM:609796;OMIM:612281;OMIM:613943;OMIM:615022;OMIM:615023;OMIM:615024;OMIM:616265;OMIM:617115;OMIM:617320;OMIM:617571;OMIM:617574;OMIM:618084;OMIM:619016;OMIM:620148;OMIM:620150;OMIM:620507;OMIM:620707;ORPHA:100976;ORPHA:2273;ORPHA:263534;ORPHA:281122;ORPHA:281127;ORPHA:312;ORPHA:455;ORPHA:457;ORPHA:461;ORPHA:59303;ORPHA:634;ORPHA:79394;ORPHA:79503;ORPHA:91132	366	9	0	0	0	357	
MONDO:0016028	erythromelalgia	subtree_only	2									OMIM:133020;ORPHA:529864;ORPHA:90026	36	2	0	0	0	34	
MONDO:0016075	filariasis	subtree_only	3									ORPHA:2035;ORPHA:231	48	3	0	0	0	45	
MONDO:0016227	hereditary episodic ataxia	subtree_only	6									OMIM:108500;OMIM:160120;OMIM:606552;OMIM:606554;OMIM:611907;OMIM:612656;OMIM:613855;OMIM:616055;OMIM:618924;ORPHA:209967;ORPHA:209970;ORPHA:211067;ORPHA:37612;ORPHA:401953;ORPHA:79135;ORPHA:79136;ORPHA:97	96	6	0	0	0	90	
MONDO:0016295	neuronal ceroid lipofuscinosis	subtree_only	7									OMIM:162350;OMIM:204200;OMIM:204300;OMIM:204500;OMIM:256730;OMIM:256731;OMIM:600143;OMIM:601780;OMIM:609055;OMIM:610003;OMIM:610127;OMIM:610951;OMIM:611726;OMIM:614706;OMIM:615362;ORPHA:1947;ORPHA:263516;ORPHA:314632	168	7	0	0	0	161	
MONDO:0016525	familial hyperaldosteronism	subtree_only	8									OMIM:103900;OMIM:605635;OMIM:613677;OMIM:615474;OMIM:617027;ORPHA:251274;ORPHA:369929;ORPHA:403;ORPHA:404	60	6	1	1	0	54	
MONDO:0016586	systemic mastocytosis	subtree_only	12									ORPHA:98848;ORPHA:98849;ORPHA:98850	73	12	0	0	0	61	
MONDO:0016587	arrhythmogenic right ventricular cardiomyopathy	subtree_only	9									OMIM:107970;OMIM:601214;OMIM:602086;OMIM:602087;OMIM:604400;OMIM:604401;OMIM:604772;OMIM:607450;OMIM:609040;OMIM:610193;OMIM:610476;OMIM:611528;OMIM:615616;OMIM:618920;ORPHA:34217	79	9	0	0	0	70	
MONDO:0016643	frontonasal dysplasia	subtree_only	10									OMIM:136760;OMIM:155145;OMIM:229400;OMIM:603671;OMIM:613451;OMIM:613456;ORPHA:1521;ORPHA:1791;ORPHA:1827;ORPHA:1993;ORPHA:228390;ORPHA:306542;ORPHA:391474;ORPHA:398156;ORPHA:488437	218	10	0	0	0	208	
MONDO:0016648	multiple epiphyseal dysplasia	subtree_only	14									OMIM:132400;OMIM:132450;OMIM:226900;OMIM:600204;OMIM:600969;OMIM:607078;OMIM:607131;OMIM:609324;OMIM:614135;OMIM:617719;ORPHA:166002;ORPHA:166016;ORPHA:166024;ORPHA:93307;ORPHA:93308;ORPHA:93311	195	12	2	0	0	183	
MONDO:0016729	mixed neuronal-glial tumor	subtree_only	6									ORPHA:251937;ORPHA:251992;ORPHA:65285;ORPHA:73256	71	5	1	0	0	66	
MONDO:0016812	dopa-responsive dystonia	subtree_only	6									OMIM:128230;OMIM:605407;OMIM:612716;OMIM:619911;ORPHA:101150;ORPHA:70594;ORPHA:98808	103	5	0	1	0	98	
MONDO:0016980	ATR-X-related syndrome	subtree_only	17									OMIM:301040;OMIM:309580;ORPHA:847	140	13	2	2	0	127	
MONDO:0017198	osteopetrosis	subtree_only	16									OMIM:155950;OMIM:166450;OMIM:166600;OMIM:224300;OMIM:259700;OMIM:259710;OMIM:259720;OMIM:259730;OMIM:265800;OMIM:300373;OMIM:607634;OMIM:611490;OMIM:611497;OMIM:612301;OMIM:612840;OMIM:615085;OMIM:615198;OMIM:618107;OMIM:620366;OMIM:621449;ORPHA:1782;ORPHA:210110;ORPHA:2485;ORPHA:2777;ORPHA:2780;ORPHA:2785;ORPHA:53;ORPHA:667;ORPHA:763;ORPHA:85179	426	15	0	1	0	411	
MONDO:0017255	panuveitis	subtree_only	9									ORPHA:209956;ORPHA:280921;ORPHA:3437;ORPHA:79098	69	8	1	0	0	61	
MONDO:0017265	autosomal recessive congenital ichthyosis	subtree_only	7									OMIM:146800;OMIM:242100;OMIM:242300;OMIM:242500;OMIM:601277;OMIM:602400;OMIM:604777;OMIM:606545;OMIM:607936;OMIM:612281;OMIM:613943;OMIM:615022;OMIM:615023;OMIM:615024;OMIM:617115;OMIM:617320;OMIM:617571;OMIM:617574;ORPHA:100976;ORPHA:281122;ORPHA:281127;ORPHA:455;ORPHA:457;ORPHA:79394;ORPHA:91132	101	7	0	0	0	94	
MONDO:0017276	frontotemporal dementia	subtree_only	4									OMIM:167320;OMIM:172700;OMIM:600274;OMIM:600795;OMIM:607485;OMIM:615422;OMIM:615424;OMIM:616437;OMIM:619733;ORPHA:100069;ORPHA:100070;ORPHA:275864;ORPHA:52430	169	4	0	0	0	165	
MONDO:0017278	autoimmune polyendocrinopathy	subtree_only	9									OMIM:240300;OMIM:269200;ORPHA:227982;ORPHA:227990;ORPHA:3143;ORPHA:3453	117	9	0	0	0	108	
MONDO:0017610	epidermolysis bullosa simplex	subtree_only	5									OMIM:131760;OMIM:131800;OMIM:131900;OMIM:131950;OMIM:131960;OMIM:226670;OMIM:601001;OMIM:604536;OMIM:609057;OMIM:609352;OMIM:609638;OMIM:612138;OMIM:615028;OMIM:615425;OMIM:616487;OMIM:617294;OMIM:619555;OMIM:619588;OMIM:619594;OMIM:619599;ORPHA:158668;ORPHA:158681;ORPHA:158684;ORPHA:158687;ORPHA:2325;ORPHA:257;ORPHA:79396;ORPHA:79397;ORPHA:79399;ORPHA:79400;ORPHA:79401;ORPHA:89838	235	5	0	0	0	230	
MONDO:0017611	pituitary tumor	subtree_only	6									OMIM:102200;OMIM:219090;OMIM:300943;OMIM:617540;OMIM:617686;ORPHA:199244;ORPHA:251623;ORPHA:2965;ORPHA:300385;ORPHA:314769;ORPHA:91347;ORPHA:91348;ORPHA:91349;ORPHA:96253;ORPHA:99725	256	6	0	0	0	250	
MONDO:0017612	junctional epidermolysis bullosa	subtree_only	12									OMIM:226650;OMIM:226700;OMIM:226730;OMIM:245660;OMIM:614748;OMIM:619783;OMIM:619784;OMIM:619785;OMIM:619786;OMIM:619787;OMIM:619816;OMIM:619817;ORPHA:2407;ORPHA:251393;ORPHA:79402;ORPHA:79403;ORPHA:79404;ORPHA:79405;ORPHA:79406	179	10	0	2	0	169	
MONDO:0017675	punctate palmoplantar keratoderma	subtree_only	3									OMIM:101850;OMIM:148600;OMIM:175860;OMIM:614936;ORPHA:38;ORPHA:79501	43	2	1	0	0	41	
MONDO:0017774	hypobetalipoproteinemia	subtree_only	18									OMIM:200100;OMIM:246700;OMIM:605019;OMIM:615558;ORPHA:14;ORPHA:71	84	17	1	0	0	67	
MONDO:0018087	viral hemorrhagic fever	subtree_only	16									ORPHA:319213;ORPHA:319218;ORPHA:319251;ORPHA:340;ORPHA:99824;ORPHA:99826;ORPHA:99827	204	16	0	0	0	188	
MONDO:0018102	corneal dystrophy	subtree_only	6									OMIM:105120;OMIM:121800;OMIM:121820;OMIM:121850;OMIM:121900;OMIM:122000;OMIM:122100;OMIM:122200;OMIM:122400;OMIM:127600;OMIM:136800;OMIM:148190;OMIM:153890;OMIM:204870;OMIM:217500;OMIM:217600;OMIM:217700;OMIM:217800;OMIM:300779;OMIM:602082;OMIM:607541;OMIM:608470;OMIM:608471;OMIM:609140;OMIM:609141;OMIM:610048;OMIM:610158;OMIM:612868;OMIM:613267;OMIM:613268;OMIM:613270;OMIM:615225;OMIM:615523;OMIM:618031;OMIM:618767;OMIM:619871;OMIM:620763;ORPHA:2334;ORPHA:293381;ORPHA:293603;ORPHA:293621;ORPHA:85448;ORPHA:98957;ORPHA:98960;ORPHA:98962;ORPHA:98963;ORPHA:98964;ORPHA:98969;ORPHA:98973;ORPHA:98974	172	6	0	0	0	166	
MONDO:0018151	coenzyme Q10 deficiency	subtree_only	8									OMIM:607426;OMIM:612016;OMIM:614650;OMIM:614651;OMIM:614652;OMIM:614654;OMIM:616276;OMIM:616733;OMIM:619028;OMIM:620402;ORPHA:139485	177	7	0	1	0	170	
MONDO:0018233	otopalatodigital syndrome spectrum disorder	subtree_only	8									OMIM:304120;OMIM:305620;OMIM:309350;OMIM:311300;OMIM:617137;ORPHA:1826;ORPHA:2484;ORPHA:90650;ORPHA:90652	316	8	0	0	0	308	
MONDO:0018276	muscular dystrophy-dystroglycanopathy	subtree_only	9									OMIM:236670;OMIM:253280;OMIM:253800;OMIM:606612;OMIM:608840;OMIM:609308;OMIM:611588;OMIM:612937;OMIM:613150;OMIM:613151;OMIM:613152;OMIM:613153;OMIM:613154;OMIM:613155;OMIM:613156;OMIM:613157;OMIM:613158;OMIM:613818;OMIM:614643;OMIM:614830;OMIM:615041;OMIM:615042;OMIM:615181;OMIM:615249;OMIM:615287;OMIM:615350;OMIM:615351;OMIM:615352;OMIM:616052;OMIM:616094;OMIM:616538;OMIM:618135;OMIM:618992;ORPHA:206559;ORPHA:263494;ORPHA:272;ORPHA:280333;ORPHA:329178;ORPHA:352479;ORPHA:363623;ORPHA:370968;ORPHA:370997;ORPHA:86812;ORPHA:899	363	9	0	0	0	354	
MONDO:0018307	neurodegeneration with brain iron accumulation	subtree_only	12									OMIM:234200;OMIM:241080;OMIM:256600;OMIM:300894;OMIM:604290;OMIM:606159;OMIM:606693;OMIM:610217;OMIM:612953;OMIM:614298;OMIM:615643;OMIM:617916;OMIM:617917;OMIM:620669;ORPHA:157846;ORPHA:157850;ORPHA:199351;ORPHA:216866;ORPHA:216873;ORPHA:289560;ORPHA:306674;ORPHA:314632;ORPHA:329284;ORPHA:329308;ORPHA:3464;ORPHA:35069;ORPHA:397725;ORPHA:48818;ORPHA:496756	396	12	0	0	0	384	
MONDO:0018612	congenital hypothyroidism	subtree_only	13									OMIM:218700;OMIM:225250;OMIM:228355;OMIM:274400;OMIM:274500;OMIM:274600;OMIM:274700;OMIM:274800;OMIM:274900;OMIM:275100;OMIM:275200;OMIM:300888;OMIM:301033;OMIM:301035;OMIM:607200;OMIM:609698;OMIM:609893;OMIM:614450;OMIM:618573;ORPHA:171706;ORPHA:1910;ORPHA:226307;ORPHA:226313;ORPHA:226316;ORPHA:705;ORPHA:90673;ORPHA:90674;ORPHA:95715;ORPHA:95716;ORPHA:95717;ORPHA:99832	184	12	0	1	0	172	
MONDO:0018646	sclerosing cholangitis	subtree_only	10									OMIM:602114;OMIM:607626;OMIM:617394;ORPHA:171;ORPHA:59303	91	9	0	1	0	82	
MONDO:0018660	hemophilia	subtree_only	3									OMIM:134500;OMIM:306700;OMIM:306900;OMIM:612416;ORPHA:169802;ORPHA:169805;ORPHA:177926;ORPHA:329;ORPHA:98878;ORPHA:98879	62	3	0	0	0	59	
MONDO:0018762	non-acquired combined pituitary hormone deficiency	subtree_only	14									OMIM:142945;OMIM:142946;OMIM:146510;OMIM:147250;OMIM:157170;OMIM:221750;OMIM:236100;OMIM:241800;OMIM:262700;OMIM:301043;OMIM:609637;OMIM:610828;OMIM:610829;OMIM:612079;OMIM:612530;OMIM:614226;OMIM:615849;OMIM:618500;OMIM:619895;ORPHA:157954;ORPHA:2162;ORPHA:220386;ORPHA:231720;ORPHA:250999;ORPHA:280200;ORPHA:293978;ORPHA:672;ORPHA:93924;ORPHA:93925	512	11	2	1	0	501	
MONDO:0018778	intermediate Charcot-Marie-Tooth disease	subtree_only	5									OMIM:118200;OMIM:214400;OMIM:606482;OMIM:606483;OMIM:607677;OMIM:607706;OMIM:607736;OMIM:607791;OMIM:608323;OMIM:608340;OMIM:613641;OMIM:614455;OMIM:615185;OMIM:615376;OMIM:616039;OMIM:617882;OMIM:620378;ORPHA:101082;ORPHA:99948	137	5	0	0	0	132	
MONDO:0018838	lissencephaly spectrum disorders	subtree_only	12									OMIM:243310;OMIM:247200;OMIM:256520;OMIM:257320;OMIM:300067;OMIM:300215;OMIM:600118;OMIM:607432;OMIM:611603;OMIM:614019;OMIM:614222;OMIM:614225;OMIM:614583;OMIM:615191;OMIM:615663;OMIM:616038;OMIM:616212;OMIM:616342;OMIM:617255;OMIM:618174;OMIM:618325;OMIM:618873;ORPHA:1083;ORPHA:1084;ORPHA:1528;ORPHA:171680;ORPHA:2148;ORPHA:2510;ORPHA:2671;ORPHA:2995;ORPHA:352682;ORPHA:370997;ORPHA:452;ORPHA:531;ORPHA:572013;ORPHA:86822;ORPHA:89844;ORPHA:95232	477	12	0	0	0	465	
MONDO:0018901	left ventricular noncompaction	subtree_only	6									OMIM:601493;OMIM:601494;OMIM:604169;OMIM:609470;OMIM:611878;OMIM:613424;OMIM:613426;OMIM:615092;OMIM:615373;OMIM:615396	53	6	0	0	0	47	
MONDO:0018910	oculocutaneous albinism	subtree_only	11									OMIM:113750;OMIM:203100;OMIM:203200;OMIM:203290;OMIM:606574;OMIM:606952;OMIM:615179;OMIM:615312;OMIM:619165;ORPHA:352731;ORPHA:370091;ORPHA:370097;ORPHA:79431;ORPHA:79432;ORPHA:79433;ORPHA:79434;ORPHA:79435	62	10	1	0	0	52	
MONDO:0018912	Cushing syndrome	subtree_only	7									OMIM:219080;OMIM:219090;OMIM:615954;OMIM:620990;ORPHA:189427;ORPHA:96253;ORPHA:99889	130	7	0	0	0	123	
MONDO:0018993	Charcot-Marie-Tooth disease type 2	subtree_only	8									OMIM:118210;OMIM:600882;OMIM:601472;OMIM:605588;OMIM:605589;OMIM:606071;OMIM:606595;OMIM:607677;OMIM:607684;OMIM:607731;OMIM:607736;OMIM:607831;OMIM:608673;OMIM:609260;OMIM:610100;OMIM:613287;OMIM:614228;OMIM:614436;OMIM:615025;OMIM:615490;OMIM:616155;OMIM:616280;OMIM:616491;OMIM:616625;OMIM:616668;OMIM:616687;OMIM:616688;OMIM:616924;OMIM:617017;OMIM:618036;OMIM:618400;ORPHA:101097;ORPHA:435387;ORPHA:466768;ORPHA:488333;ORPHA:98856;ORPHA:99939;ORPHA:99940;ORPHA:99944;ORPHA:99947	277	8	0	0	0	269	
MONDO:0018995	Charcot-Marie-Tooth disease type 4	subtree_only	6									OMIM:214400;OMIM:601382;OMIM:601455;OMIM:601596;OMIM:604563;OMIM:605253;OMIM:605285;OMIM:609311;OMIM:611228;OMIM:614895;OMIM:615284;OMIM:616684;ORPHA:99948;ORPHA:99949;ORPHA:99950;ORPHA:99953;ORPHA:99956	183	6	0	0	0	177	
MONDO:0019010	congenital isolated hyperinsulinism	subtree_only	7									OMIM:601820;OMIM:602485;OMIM:606762;OMIM:609975;OMIM:610021;ORPHA:263455;ORPHA:276556;ORPHA:276575;ORPHA:276580;ORPHA:324575;ORPHA:35878;ORPHA:71212;ORPHA:79299;ORPHA:79644	116	7	0	0	0	109	
MONDO:0019011	Charcot-Marie-Tooth disease type 1	subtree_only	6									OMIM:118200;OMIM:118220;OMIM:118300;OMIM:601098;OMIM:607678;OMIM:607734;ORPHA:101081;ORPHA:101082;ORPHA:101085;ORPHA:90658	131	6	0	0	0	125	
MONDO:0019064	hereditary spastic paraplegia	subtree_only	14									OMIM:182600;OMIM:182601;OMIM:182815;OMIM:248900;OMIM:256840;OMIM:270685;OMIM:270700;OMIM:270750;OMIM:270800;OMIM:275900;OMIM:300266;OMIM:300750;OMIM:303350;OMIM:312920;OMIM:600361;OMIM:600363;OMIM:601162;OMIM:603563;OMIM:604187;OMIM:604360;OMIM:604805;OMIM:605229;OMIM:605280;OMIM:607152;OMIM:607259;OMIM:607584;OMIM:608220;OMIM:609041;OMIM:609195;OMIM:609340;OMIM:609541;OMIM:609727;OMIM:610244;OMIM:610250;OMIM:610357;OMIM:611225;OMIM:611252;OMIM:611302;OMIM:611945;OMIM:612020;OMIM:612319;OMIM:612335;OMIM:612539;OMIM:612936;OMIM:613096;OMIM:613162;OMIM:613206;OMIM:613364;OMIM:613647;OMIM:613744;OMIM:614066;OMIM:614067;OMIM:614409;OMIM:614898;OMIM:615030;OMIM:615031;OMIM:615033;OMIM:615035;OMIM:615043;OMIM:615491;OMIM:615625;OMIM:615658;OMIM:615681;OMIM:615683;OMIM:615685;OMIM:615686;OMIM:616281;OMIM:616282;OMIM:616451;OMIM:616586;OMIM:616680;OMIM:616756;OMIM:616907;OMIM:617046;OMIM:617225;OMIM:617296;OMIM:618418;OMIM:618768;OMIM:618770;OMIM:619027;OMIM:619621;OMIM:619686;OMIM:619735;OMIM:619966;OMIM:620106;OMIM:620221;OMIM:620323;OMIM:620379;OMIM:620416;OMIM:620417;OMIM:620512;OMIM:620538;OMIM:620606;OMIM:620607;OMIM:620911;OMIM:620938;ORPHA:100984;ORPHA:100985;ORPHA:100986;ORPHA:100988;ORPHA:100989;ORPHA:100991;ORPHA:100993;ORPHA:100994;ORPHA:100995;ORPHA:100996;ORPHA:100997;ORPHA:100998;ORPHA:100999;ORPHA:101000;ORPHA:101001;ORPHA:101003;ORPHA:101004;ORPHA:101005;ORPHA:101006;ORPHA:101007;ORPHA:101008;ORPHA:101009;ORPHA:101010;ORPHA:101011;ORPHA:139480;ORPHA:139578;ORPHA:171607;ORPHA:171612;ORPHA:171617;ORPHA:171622;ORPHA:171629;ORPHA:171863;ORPHA:209951;ORPHA:2429;ORPHA:2466;ORPHA:2818;ORPHA:2819;ORPHA:2820;ORPHA:2821;ORPHA:2822;ORPHA:2826;ORPHA:306511;ORPHA:319199;ORPHA:320355;ORPHA:320360;ORPHA:320365;ORPHA:320370;ORPHA:320375;ORPHA:320380;ORPHA:320385;ORPHA:320391;ORPHA:320396;ORPHA:320401;ORPHA:320406;ORPHA:320411;ORPHA:329308;ORPHA:329475;ORPHA:397946;ORPHA:401780;ORPHA:401785;ORPHA:401795;ORPHA:401800;ORPHA:401805;ORPHA:401810;ORPHA:401815;ORPHA:401820;ORPHA:401830;ORPHA:401835;ORPHA:401840;ORPHA:401849;ORPHA:431329;ORPHA:444099;ORPHA:447753;ORPHA:447757;ORPHA:447760;ORPHA:459056;ORPHA:464282;ORPHA:466722;ORPHA:468661;ORPHA:477673;ORPHA:488594;ORPHA:496689;ORPHA:506353;ORPHA:513436;ORPHA:521390;ORPHA:99013;ORPHA:99015	715	14	0	0	0	701	
MONDO:0019065	amyloidosis	subtree_only	8									OMIM:104300;OMIM:105120;OMIM:105150;OMIM:105200;OMIM:105210;OMIM:105250;OMIM:117300;OMIM:176500;OMIM:605714;OMIM:613955;OMIM:617920;OMIM:620657;OMIM:620658;OMIM:620659;ORPHA:100006;ORPHA:100008;ORPHA:271861;ORPHA:314652;ORPHA:324703;ORPHA:324708;ORPHA:324713;ORPHA:324723;ORPHA:330001;ORPHA:439224;ORPHA:439232;ORPHA:439254;ORPHA:442582;ORPHA:49804;ORPHA:85443;ORPHA:85445;ORPHA:85446;ORPHA:85447;ORPHA:85448;ORPHA:85450;ORPHA:85451;ORPHA:85458	354	8	0	0	0	346	
MONDO:0019118	inherited retinal dystrophy	subtree_only	8									OMIM:108985;OMIM:120300;OMIM:120400;OMIM:120970;OMIM:126600;OMIM:126700;OMIM:136550;OMIM:136880;OMIM:136900;OMIM:152950;OMIM:153700;OMIM:153800;OMIM:153840;OMIM:153870;OMIM:153890;OMIM:169150;OMIM:172870;OMIM:180020;OMIM:180100;OMIM:180104;OMIM:180105;OMIM:180210;OMIM:192315;OMIM:204000;OMIM:204100;OMIM:210370;OMIM:215500;OMIM:216800;OMIM:216900;OMIM:217800;OMIM:225280;OMIM:228980;OMIM:248190;OMIM:248200;OMIM:251270;OMIM:257270;OMIM:258100;OMIM:258870;OMIM:262300;OMIM:264420;OMIM:267760;OMIM:268000;OMIM:268060;OMIM:268130;OMIM:300029;OMIM:300071;OMIM:300085;OMIM:300155;OMIM:300424;OMIM:300476;OMIM:300600;OMIM:300834;OMIM:301148;OMIM:303100;OMIM:303110;OMIM:303700;OMIM:304020;OMIM:309100;OMIM:310500;OMIM:312550;OMIM:312600;OMIM:312612;OMIM:312700;OMIM:400004;OMIM:600059;OMIM:600105;OMIM:600110;OMIM:600132;OMIM:600138;OMIM:600624;OMIM:600790;OMIM:600852;OMIM:600977;OMIM:601414;OMIM:601718;OMIM:601777;OMIM:602093;OMIM:602772;OMIM:603075;OMIM:603649;OMIM:603786;OMIM:604116;OMIM:604232;OMIM:604290;OMIM:604393;OMIM:604537;OMIM:605549;OMIM:605670;OMIM:606068;OMIM:607475;OMIM:607476;OMIM:607921;OMIM:608051;OMIM:608133;OMIM:608161;OMIM:608194;OMIM:608380;OMIM:608553;OMIM:608688;OMIM:608850;OMIM:608895;OMIM:608970;OMIM:609033;OMIM:609913;OMIM:609923;OMIM:610149;OMIM:610282;OMIM:610283;OMIM:610356;OMIM:610359;OMIM:610381;OMIM:610445;OMIM:610478;OMIM:610599;OMIM:610612;OMIM:610698;OMIM:611131;OMIM:611755;OMIM:611809;OMIM:611953;OMIM:612095;OMIM:612165;OMIM:612572;OMIM:612657;OMIM:612712;OMIM:612775;OMIM:612943;OMIM:613093;OMIM:613105;OMIM:613194;OMIM:613216;OMIM:613341;OMIM:613411;OMIM:613428;OMIM:613464;OMIM:613575;OMIM:613581;OMIM:613582;OMIM:613587;OMIM:613617;OMIM:613660;OMIM:613731;OMIM:613750;OMIM:613756;OMIM:613757;OMIM:613758;OMIM:613767;OMIM:613769;OMIM:613794;OMIM:613801;OMIM:613809;OMIM:613810;OMIM:613826;OMIM:613827;OMIM:613829;OMIM:613835;OMIM:613837;OMIM:613843;OMIM:613856;OMIM:613861;OMIM:613862;OMIM:613983;OMIM:614180;OMIM:614181;OMIM:614186;OMIM:614494;OMIM:614500;OMIM:614559;OMIM:614565;OMIM:615058;OMIM:615147;OMIM:615163;OMIM:615233;OMIM:615360;OMIM:615374;OMIM:615434;OMIM:615458;OMIM:615565;OMIM:615725;OMIM:615780;OMIM:615860;OMIM:615922;OMIM:615973;OMIM:616079;OMIM:616118;OMIM:616151;OMIM:616152;OMIM:616170;OMIM:616188;OMIM:616394;OMIM:616469;OMIM:616502;OMIM:616517;OMIM:616544;OMIM:616562;OMIM:617023;OMIM:617111;OMIM:617123;OMIM:617175;OMIM:617304;OMIM:617433;OMIM:617460;OMIM:617781;OMIM:617871;OMIM:617879;OMIM:618173;OMIM:618220;OMIM:618345;OMIM:618513;OMIM:618555;OMIM:618613;OMIM:618697;OMIM:618826;OMIM:619007;OMIM:619260;OMIM:619531;OMIM:619614;OMIM:619845;OMIM:619977;OMIM:620102;OMIM:620228;OMIM:620342;OMIM:620422;OMIM:620762;OMIM:620996;OMIM:621259;OMIM:621280;OMIM:621548;ORPHA:1021;ORPHA:1243;ORPHA:1435;ORPHA:1471;ORPHA:1574;ORPHA:16;ORPHA:178333;ORPHA:180;ORPHA:1871;ORPHA:1872;ORPHA:1897;ORPHA:2196;ORPHA:2253;ORPHA:247691;ORPHA:250977;ORPHA:2518;ORPHA:2526;ORPHA:3088;ORPHA:364055;ORPHA:414;ORPHA:41751;ORPHA:423479;ORPHA:48818;ORPHA:52427;ORPHA:59181;ORPHA:65;ORPHA:67042;ORPHA:75373;ORPHA:75376;ORPHA:75378;ORPHA:75382;ORPHA:791;ORPHA:792;ORPHA:827;ORPHA:85128;ORPHA:88628;ORPHA:98969;ORPHA:99000	708	8	0	0	0	700	
MONDO:0019142	inherited porphyria	subtree_only	9									OMIM:121300;OMIM:176000;OMIM:176100;OMIM:176200;OMIM:177000;OMIM:263700;OMIM:300752;OMIM:612740;OMIM:618015;OMIM:618892;OMIM:620483;OMIM:620704;OMIM:620711;ORPHA:100924;ORPHA:79273;ORPHA:79276;ORPHA:79277;ORPHA:79278;ORPHA:79473;ORPHA:95159	246	8	0	1	0	238	
MONDO:0019181	non-syndromic X-linked intellectual disability	subtree_only	6									OMIM:300046;OMIM:300047;OMIM:300062;OMIM:300115;OMIM:300143;OMIM:300210;OMIM:300271;OMIM:300324;OMIM:300355;OMIM:300387;OMIM:300419;OMIM:300428;OMIM:300433;OMIM:300436;OMIM:300454;OMIM:300498;OMIM:300505;OMIM:300518;OMIM:300558;OMIM:300577;OMIM:300659;OMIM:300705;OMIM:300716;OMIM:300802;OMIM:300803;OMIM:300844;OMIM:300848;OMIM:300849;OMIM:300850;OMIM:300851;OMIM:300852;OMIM:300919;OMIM:300923;OMIM:300928;OMIM:300958;OMIM:300978;OMIM:300982;OMIM:300983;OMIM:300984;OMIM:300997;OMIM:301013;OMIM:301024;OMIM:301095;OMIM:301107;OMIM:301111;OMIM:301116;OMIM:301134;OMIM:309530;OMIM:309541;OMIM:309548;OMIM:309549;ORPHA:100973;ORPHA:397933	280	6	0	0	0	274	
MONDO:0019220	inborn disorder of cobalamin metabolism and transport	subtree_only	12									OMIM:193090;OMIM:236270;OMIM:243320;OMIM:250940;OMIM:251100;OMIM:251110;OMIM:261000;OMIM:261100;OMIM:275350;OMIM:277380;OMIM:277400;OMIM:277410;OMIM:309541;OMIM:613646;OMIM:614857;OMIM:618882;OMIM:620940;OMIM:620952;ORPHA:2169;ORPHA:26;ORPHA:28;ORPHA:332;ORPHA:35858;ORPHA:622;ORPHA:79282;ORPHA:79283;ORPHA:79284;ORPHA:859	280	12	0	0	0	268	
MONDO:0019222	inborn disorder of methionine cycle and sulfur amino acid metabolism	subtree_only	16									OMIM:219500;OMIM:236200;OMIM:236250;OMIM:236270;OMIM:250850;OMIM:250940;OMIM:252150;OMIM:252160;OMIM:272300;OMIM:277380;OMIM:277400;OMIM:277410;OMIM:309541;OMIM:606664;OMIM:613752;OMIM:614300;OMIM:614857;OMIM:615501;OMIM:618148;OMIM:620940;OMIM:620952;OMIM:621373;ORPHA:212;ORPHA:2169;ORPHA:26;ORPHA:394;ORPHA:395;ORPHA:622;ORPHA:79282;ORPHA:79283;ORPHA:79284;ORPHA:833;ORPHA:88618	437	15	1	0	0	422	
MONDO:0019249	mucopolysaccharidosis	subtree_only	8									OMIM:252900;OMIM:252920;OMIM:252930;OMIM:252940;OMIM:253000;OMIM:253010;OMIM:253200;OMIM:253220;OMIM:309900;OMIM:601492;OMIM:607014;OMIM:607015;OMIM:607016;OMIM:619698;ORPHA:579;ORPHA:580;ORPHA:581;ORPHA:582;ORPHA:583;ORPHA:584;ORPHA:67041;ORPHA:93473;ORPHA:93474;ORPHA:93476	405	8	0	0	0	397	
MONDO:0019502	autosomal recessive non-syndromic intellectual disability	subtree_only	10									OMIM:249500;OMIM:607417;OMIM:607596;OMIM:608443;OMIM:611090;OMIM:611091;OMIM:611092;OMIM:611093;OMIM:611095;OMIM:611096;OMIM:611097;OMIM:611107;OMIM:613192;OMIM:614020;OMIM:614202;OMIM:614208;OMIM:614249;OMIM:614300;OMIM:614329;OMIM:614333;OMIM:614340;OMIM:614341;OMIM:614342;OMIM:614343;OMIM:614344;OMIM:614345;OMIM:614346;OMIM:614347;OMIM:614499;OMIM:614678;OMIM:615802;OMIM:615817;OMIM:615942;OMIM:615979;OMIM:616081;OMIM:616116;OMIM:616193;OMIM:616459;OMIM:616460;OMIM:616739;OMIM:616887;OMIM:617028;OMIM:617125;OMIM:617169;OMIM:617188;OMIM:617270;OMIM:617323;OMIM:617432;OMIM:617773;OMIM:617816;OMIM:618095;OMIM:618103;OMIM:618109;OMIM:618221;OMIM:618295;OMIM:618302;OMIM:618383;OMIM:618402;OMIM:618504;OMIM:618665;OMIM:619717;OMIM:619827;OMIM:619931;OMIM:619988;OMIM:620237;OMIM:620393;OMIM:620653;OMIM:620700;OMIM:620779;OMIM:621100;ORPHA:2254	426	9	1	0	0	417	
MONDO:0019503	anterior segment dysgenesis	subtree_only	7									OMIM:107250;OMIM:137600;OMIM:156600;OMIM:206700;OMIM:269400;OMIM:601631;OMIM:602482;OMIM:604229;OMIM:610256;OMIM:612582;OMIM:617315;OMIM:617319;ORPHA:1065;ORPHA:566;ORPHA:69736;ORPHA:708;ORPHA:83461;ORPHA:96125	214	7	0	0	0	207	
MONDO:0019586	X-linked nonsyndromic hearing loss	subtree_only	3									OMIM:300030;OMIM:300066;OMIM:300614;OMIM:300914;OMIM:304400;OMIM:304500	28	3	0	0	0	25	
MONDO:0019623	hereditary angioedema	subtree_only	19									OMIM:106100;OMIM:610618;OMIM:619360;OMIM:619361;OMIM:619363;OMIM:619366;OMIM:619367;ORPHA:100050;ORPHA:528623;ORPHA:528647	63	19	0	0	0	44	
MONDO:0019787	autoimmune enteropathy	subtree_only	5									OMIM:304790;OMIM:614162;ORPHA:37042;ORPHA:391487	134	4	1	0	0	130	
MONDO:0019792	autosomal dominant cerebellar ataxia type I	subtree_only	7									OMIM:109150;OMIM:117360;OMIM:133190;OMIM:164400;OMIM:183090;OMIM:600223;OMIM:601338;OMIM:604121;OMIM:604326;OMIM:605259;OMIM:605361;OMIM:606658;OMIM:607136;OMIM:607346;OMIM:607454;OMIM:607458;OMIM:608687;OMIM:608703;OMIM:608768;OMIM:610245;OMIM:610246;OMIM:613908;OMIM:613909;OMIM:614153;OMIM:614756;OMIM:615945;OMIM:616053;OMIM:617770;OMIM:620719;ORPHA:101108;ORPHA:101109;ORPHA:101110;ORPHA:101111;ORPHA:1171;ORPHA:1955;ORPHA:208513;ORPHA:276183;ORPHA:276193;ORPHA:276198;ORPHA:276238;ORPHA:276241;ORPHA:276244;ORPHA:314404;ORPHA:314647;ORPHA:363710;ORPHA:423275;ORPHA:98755;ORPHA:98756;ORPHA:98757;ORPHA:98759;ORPHA:98760;ORPHA:98762;ORPHA:98763;ORPHA:98764;ORPHA:98765;ORPHA:98768;ORPHA:98769;ORPHA:98771;ORPHA:98772;ORPHA:98773	489	7	0	0	0	482	
MONDO:0019793	autosomal dominant cerebellar ataxia type III	subtree_only	6									OMIM:117210;OMIM:183086;OMIM:600224;OMIM:604432;OMIM:609306;OMIM:613371;OMIM:615957;OMIM:616410;OMIM:616795;OMIM:617769;OMIM:618087;ORPHA:101112;ORPHA:211017;ORPHA:217012;ORPHA:423296;ORPHA:458798;ORPHA:458803;ORPHA:98758;ORPHA:98766;ORPHA:98767	133	5	1	0	0	128	
MONDO:0019806	primary progressive aphasia	subtree_only	2									OMIM:600274;OMIM:607485;ORPHA:100069;ORPHA:100070	62	2	0	0	0	60	
MONDO:0020074	progressive myoclonus epilepsy	subtree_only	6									OMIM:254780;OMIM:254800;OMIM:254900;OMIM:545000;OMIM:604218;OMIM:610003;OMIM:611726;OMIM:612437;OMIM:614018;OMIM:616187;OMIM:616230;OMIM:616540;OMIM:616640;OMIM:618876;OMIM:619191;OMIM:620681;ORPHA:1947;ORPHA:263516;ORPHA:308;ORPHA:324290;ORPHA:501;ORPHA:551	189	6	0	0	0	183	
MONDO:0020088	familial partial lipodystrophy	subtree_only	11									OMIM:151660;OMIM:604367;OMIM:608600;OMIM:613877;OMIM:615238;OMIM:615980;OMIM:620679;OMIM:620683;ORPHA:2348;ORPHA:280356;ORPHA:280365;ORPHA:435651;ORPHA:435660;ORPHA:79083;ORPHA:79084;ORPHA:79085	176	11	0	0	0	165	
MONDO:0020108	autoimmune hemolytic anemia	subtree_only	4									ORPHA:1959;ORPHA:56425;ORPHA:90033;ORPHA:90035;ORPHA:90036;ORPHA:90037	47	3	0	1	0	44	
MONDO:0020213	stromal corneal dystrophy	subtree_only	5									OMIM:121800;OMIM:121850;OMIM:121900;OMIM:122200;OMIM:204870;OMIM:217600;OMIM:217800;OMIM:607541;OMIM:608471;OMIM:610048;OMIM:612868;ORPHA:98957;ORPHA:98962;ORPHA:98963;ORPHA:98964;ORPHA:98969	60	5	0	0	0	55	
MONDO:0020283	uveitis	subtree_only	11									OMIM:251270;OMIM:605808;OMIM:616171;OMIM:616335;ORPHA:179;ORPHA:209956;ORPHA:209959;ORPHA:2518;ORPHA:263479;ORPHA:279914;ORPHA:280921;ORPHA:3437;ORPHA:79098	163	11	0	0	0	152	
MONDO:0020366	congenital glaucoma	subtree_only	13									OMIM:231300;OMIM:600975;OMIM:601682;OMIM:613086;OMIM:617272;OMIM:617315;ORPHA:98976	29	11	1	1	0	18	
MONDO:0020380	autosomal dominant cerebellar ataxia	subtree_only	4									OMIM:109150;OMIM:117210;OMIM:117360;OMIM:125370;OMIM:133190;OMIM:164400;OMIM:164500;OMIM:183086;OMIM:183090;OMIM:193003;OMIM:600223;OMIM:600224;OMIM:601338;OMIM:603516;OMIM:604121;OMIM:604326;OMIM:604432;OMIM:605259;OMIM:605361;OMIM:606658;OMIM:607136;OMIM:607346;OMIM:607454;OMIM:607458;OMIM:608687;OMIM:608703;OMIM:608768;OMIM:609306;OMIM:610245;OMIM:610246;OMIM:613371;OMIM:613908;OMIM:613909;OMIM:614153;OMIM:614756;OMIM:615945;OMIM:615957;OMIM:616053;OMIM:616410;OMIM:616795;OMIM:617018;OMIM:617691;OMIM:617769;OMIM:617770;OMIM:618087;OMIM:618093;OMIM:619806;OMIM:620158;OMIM:620174;OMIM:620719;OMIM:620947;OMIM:621535;ORPHA:101;ORPHA:101108;ORPHA:101109;ORPHA:101110;ORPHA:101111;ORPHA:101112;ORPHA:1171;ORPHA:1955;ORPHA:208513;ORPHA:211017;ORPHA:217012;ORPHA:276183;ORPHA:276193;ORPHA:276198;ORPHA:276238;ORPHA:276241;ORPHA:276244;ORPHA:314404;ORPHA:314647;ORPHA:363710;ORPHA:423275;ORPHA:423296;ORPHA:458798;ORPHA:458803;ORPHA:497764;ORPHA:94147;ORPHA:98755;ORPHA:98756;ORPHA:98757;ORPHA:98758;ORPHA:98759;ORPHA:98760;ORPHA:98761;ORPHA:98762;ORPHA:98763;ORPHA:98764;ORPHA:98765;ORPHA:98766;ORPHA:98767;ORPHA:98768;ORPHA:98769;ORPHA:98771;ORPHA:98772;ORPHA:98773	565	4	0	0	0	561	
MONDO:0020642	polycystic kidney disease	subtree_only	23									OMIM:173900;OMIM:263200;OMIM:600666;OMIM:613095;OMIM:617610;OMIM:618061;OMIM:620056;OMIM:620903;ORPHA:730;ORPHA:731	116	22	0	1	0	94	
MONDO:0021042	glioma	subtree_only	7									OMIM:162091;OMIM:162260;OMIM:615670;ORPHA:2086;ORPHA:251623;ORPHA:251636;ORPHA:251639;ORPHA:251643;ORPHA:252164;ORPHA:252183;ORPHA:360;ORPHA:93921	137	4	3	0	0	133	
MONDO:0021061	neurofibromatosis	subtree_only	9									OMIM:101000;OMIM:162091;OMIM:162200;OMIM:162210;OMIM:162260;OMIM:193520;OMIM:601321;OMIM:613675;OMIM:615670;ORPHA:137634;ORPHA:363700;ORPHA:636;ORPHA:637;ORPHA:638;ORPHA:93921;ORPHA:97685	312	8	1	0	0	304	
MONDO:0021187	hyperlipidemia	subtree_only	7									OMIM:143470;OMIM:143890;OMIM:144010;OMIM:144250;OMIM:144650;OMIM:207750;OMIM:238600;OMIM:603776;OMIM:614025;OMIM:615947;OMIM:617347;ORPHA:140905;ORPHA:209902;ORPHA:391665;ORPHA:412	82	7	0	0	0	75	
MONDO:0021944	auditory neuropathy	subtree_only	7									OMIM:300614;OMIM:601071;OMIM:609129;OMIM:619832;OMIM:620384	27	7	0	0	0	20	
MONDO:0024574	von Willebrand disease (hereditary or acquired)	subtree_only	3									OMIM:153670;OMIM:177820;OMIM:193400;OMIM:277480;OMIM:314560;OMIM:613554;ORPHA:903;ORPHA:99147	61	3	0	0	0	58	
MONDO:0025445	Wieacker-Wolff syndrome (spectrum)	subtree_only	25									OMIM:301041;OMIM:314580;ORPHA:3454	86	24	1	0	0	62	
MONDO:0033352	neuropathy, congenital hypomelinating	subtree_only	5									OMIM:605253;OMIM:618184;OMIM:618186	69	4	1	0	0	65	
MONDO:0100038	complex neurodevelopmental disorder	subtree_only	20									OMIM:108500;OMIM:141500;OMIM:176270;OMIM:183086;OMIM:209850;OMIM:245570;OMIM:300088;OMIM:300607;OMIM:300672;OMIM:300868;OMIM:300884;OMIM:301044;OMIM:301058;OMIM:308350;OMIM:312750;OMIM:607208;OMIM:609304;OMIM:612164;OMIM:612949;OMIM:613402;OMIM:613454;OMIM:613477;OMIM:613720;OMIM:613721;OMIM:613722;OMIM:613970;OMIM:614254;OMIM:614498;OMIM:614558;OMIM:614959;OMIM:615006;OMIM:615338;OMIM:615369;OMIM:615473;OMIM:615476;OMIM:615547;OMIM:615744;OMIM:615763;OMIM:615828;OMIM:615833;OMIM:615859;OMIM:615871;OMIM:615905;OMIM:616056;OMIM:616078;OMIM:616139;OMIM:616211;OMIM:616339;OMIM:616341;OMIM:616346;OMIM:616366;OMIM:616409;OMIM:616457;OMIM:616645;OMIM:616647;OMIM:616875;OMIM:616981;OMIM:617008;OMIM:617020;OMIM:617065;OMIM:617105;OMIM:617106;OMIM:617113;OMIM:617132;OMIM:617153;OMIM:617162;OMIM:617166;OMIM:617171;OMIM:617276;OMIM:617281;OMIM:617339;OMIM:617350;OMIM:617389;OMIM:617391;OMIM:617599;OMIM:617665;OMIM:617711;OMIM:617771;OMIM:617804;OMIM:617820;OMIM:617829;OMIM:617830;OMIM:617904;OMIM:617929;OMIM:617933;OMIM:617938;OMIM:617976;OMIM:618004;OMIM:618008;OMIM:618012;OMIM:618067;OMIM:618141;OMIM:618201;OMIM:618285;OMIM:618298;OMIM:618328;OMIM:618374;OMIM:618379;OMIM:618396;OMIM:618437;OMIM:618468;OMIM:618548;OMIM:618557;OMIM:618559;OMIM:618580;OMIM:618663;OMIM:618721;OMIM:618744;OMIM:618792;OMIM:618910;OMIM:618916;OMIM:618917;OMIM:618959;OMIM:619124;OMIM:619317;OMIM:619340;OMIM:619561;OMIM:619605;OMIM:619606;OMIM:619777;OMIM:619814;OMIM:619881;OMIM:619913;OMIM:619970;OMIM:619983;OMIM:620028;OMIM:620033;OMIM:620115;OMIM:620145;OMIM:620149;OMIM:620352;OMIM:620504;OMIM:620537;OMIM:620772;OMIM:620774;OMIM:620783;OMIM:620806;OMIM:621250;OMIM:621304;OMIM:621468;OMIM:621475;ORPHA:163985;ORPHA:168782;ORPHA:177901;ORPHA:177904;ORPHA:177907;ORPHA:177910;ORPHA:1934;ORPHA:2382;ORPHA:289266;ORPHA:324422;ORPHA:398069;ORPHA:411986;ORPHA:439218;ORPHA:468620;ORPHA:505652;ORPHA:544503;ORPHA:561854;ORPHA:599373;ORPHA:739;ORPHA:778;ORPHA:97;ORPHA:98754;ORPHA:98758;ORPHA:98793;ORPHA:98818	1029	18	2	0	0	1011	
MONDO:0100062	genetic developmental and epileptic encephalopathy	subtree_only	11									OMIM:300088;OMIM:300607;OMIM:300672;OMIM:300868;OMIM:300884;OMIM:301044;OMIM:301058;OMIM:308350;OMIM:607208;OMIM:609304;OMIM:612164;OMIM:612949;OMIM:613402;OMIM:613477;OMIM:613720;OMIM:613721;OMIM:613722;OMIM:614498;OMIM:614558;OMIM:614959;OMIM:615006;OMIM:615338;OMIM:615369;OMIM:615473;OMIM:615476;OMIM:615744;OMIM:615833;OMIM:615859;OMIM:615871;OMIM:615905;OMIM:616056;OMIM:616139;OMIM:616211;OMIM:616339;OMIM:616341;OMIM:616346;OMIM:616366;OMIM:616409;OMIM:616457;OMIM:616645;OMIM:616647;OMIM:616981;OMIM:617020;OMIM:617065;OMIM:617105;OMIM:617106;OMIM:617113;OMIM:617132;OMIM:617153;OMIM:617162;OMIM:617166;OMIM:617276;OMIM:617281;OMIM:617339;OMIM:617350;OMIM:617389;OMIM:617391;OMIM:617599;OMIM:617665;OMIM:617711;OMIM:617771;OMIM:617829;OMIM:617830;OMIM:617904;OMIM:617929;OMIM:617933;OMIM:617938;OMIM:617976;OMIM:618004;OMIM:618008;OMIM:618012;OMIM:618067;OMIM:618141;OMIM:618201;OMIM:618285;OMIM:618298;OMIM:618328;OMIM:618374;OMIM:618379;OMIM:618396;OMIM:618437;OMIM:618468;OMIM:618548;OMIM:618557;OMIM:618559;OMIM:618580;OMIM:618663;OMIM:618721;OMIM:618744;OMIM:618792;OMIM:618910;OMIM:618916;OMIM:618959;OMIM:619124;OMIM:619317;OMIM:619340;OMIM:619561;OMIM:619605;OMIM:619606;OMIM:619777;OMIM:619814;OMIM:619881;OMIM:619913;OMIM:619970;OMIM:619983;OMIM:620028;OMIM:620033;OMIM:620115;OMIM:620145;OMIM:620149;OMIM:620352;OMIM:620504;OMIM:620537;OMIM:620772;OMIM:620774;OMIM:620783;OMIM:620806;OMIM:621250;OMIM:621304;OMIM:621468;OMIM:621475;ORPHA:163985;ORPHA:2382;ORPHA:324422;ORPHA:411986;ORPHA:439218;ORPHA:505652;ORPHA:544503;ORPHA:599373	803	9	0	2	0	794	
MONDO:0100126	P5CS deficiency	subtree_only	19									OMIM:219150;OMIM:601162;OMIM:616586;OMIM:616603;ORPHA:35664;ORPHA:447753;ORPHA:447757;ORPHA:447760	162	15	2	2	0	147	
MONDO:0100234	paroxysmal familial ventricular fibrillation	subtree_only	4									OMIM:603829;OMIM:612956	6	3	0	1	0	3	
MONDO:0100247	multiple congenital anomalies-hypotonia-seizures syndrome	subtree_only	17									OMIM:300868;OMIM:614080;OMIM:615398;OMIM:618548;ORPHA:280633;ORPHA:369837	354	10	4	3	0	344	
MONDO:0100254	CACNA1A-related complex neurodevelopmental disorder	subtree_only	10									OMIM:108500;OMIM:141500;OMIM:183086;OMIM:617106;ORPHA:97;ORPHA:98758	89	9	0	1	0	80	
MONDO:0100288	enhanced S-cone syndrome	subtree_only	7									OMIM:268100;OMIM:621371	29	5	1	1	0	24	
MONDO:0100313	focal segmental glomerulosclerosis	subtree_only	8									OMIM:603278;OMIM:603965;OMIM:613237;OMIM:614131;OMIM:616002;OMIM:616032;OMIM:616220	30	6	1	1	0	24	
MONDO:0100368	RPE65-related recessive retinopathy	subtree_only	6									OMIM:204100;OMIM:613794	22	4	1	1	0	18	
MONDO:0100444	RLBP1-related retinopathy	subtree_only	7									OMIM:136880;OMIM:607475;OMIM:607476;ORPHA:52427;ORPHA:85128	46	6	1	0	0	40	
MONDO:0700092	neurodevelopmental disorder	subtree_only	10									OMIM:104290;OMIM:108500;OMIM:135500;OMIM:139210;OMIM:141500;OMIM:148050;OMIM:152950;OMIM:156200;OMIM:176270;OMIM:180849;OMIM:182290;OMIM:183086;OMIM:194050;OMIM:209850;OMIM:210710;OMIM:210720;OMIM:216550;OMIM:235730;OMIM:245570;OMIM:249500;OMIM:251200;OMIM:251270;OMIM:269150;OMIM:277990;OMIM:300046;OMIM:300047;OMIM:300055;OMIM:300062;OMIM:300088;OMIM:300114;OMIM:300115;OMIM:300123;OMIM:300143;OMIM:300148;OMIM:300200;OMIM:300210;OMIM:300218;OMIM:300238;OMIM:300260;OMIM:300262;OMIM:300263;OMIM:300271;OMIM:300324;OMIM:300354;OMIM:300355;OMIM:300387;OMIM:300419;OMIM:300422;OMIM:300423;OMIM:300428;OMIM:300433;OMIM:300434;OMIM:300436;OMIM:300454;OMIM:300471;OMIM:300472;OMIM:300486;OMIM:300498;OMIM:300505;OMIM:300518;OMIM:300523;OMIM:300534;OMIM:300558;OMIM:300577;OMIM:300578;OMIM:300607;OMIM:300659;OMIM:300672;OMIM:300676;OMIM:300699;OMIM:300705;OMIM:300709;OMIM:300712;OMIM:300716;OMIM:300749;OMIM:300799;OMIM:300802;OMIM:300803;OMIM:300831;OMIM:300844;OMIM:300848;OMIM:300849;OMIM:300850;OMIM:300851;OMIM:300852;OMIM:300855;OMIM:300858;OMIM:300860;OMIM:300861;OMIM:300868;OMIM:300884;OMIM:300886;OMIM:300895;OMIM:300911;OMIM:300912;OMIM:300919;OMIM:300923;OMIM:300928;OMIM:300957;OMIM:300958;OMIM:300966;OMIM:300967;OMIM:300968;OMIM:300978;OMIM:300982;OMIM:300983;OMIM:300984;OMIM:300986;OMIM:300997;OMIM:300998;OMIM:301008;OMIM:301013;OMIM:301024;OMIM:301025;OMIM:301030;OMIM:301039;OMIM:301040;OMIM:301044;OMIM:301058;OMIM:301066;OMIM:301076;OMIM:301094;OMIM:301095;OMIM:301107;OMIM:301111;OMIM:301116;OMIM:301118;OMIM:301134;OMIM:301900;OMIM:303600;OMIM:304050;OMIM:304340;OMIM:305450;OMIM:308350;OMIM:309500;OMIM:309510;OMIM:309520;OMIM:309530;OMIM:309541;OMIM:309545;OMIM:309548;OMIM:309549;OMIM:309555;OMIM:309580;OMIM:309583;OMIM:309585;OMIM:309590;OMIM:309610;OMIM:309620;OMIM:309800;OMIM:311200;OMIM:311510;OMIM:312750;OMIM:314580;OMIM:601358;OMIM:602342;OMIM:604317;OMIM:604321;OMIM:604804;OMIM:605013;OMIM:605039;OMIM:607196;OMIM:607208;OMIM:607417;OMIM:607596;OMIM:608393;OMIM:608443;OMIM:608716;OMIM:608885;OMIM:609304;OMIM:610543;OMIM:611090;OMIM:611091;OMIM:611092;OMIM:611093;OMIM:611095;OMIM:611096;OMIM:611097;OMIM:611107;OMIM:611816;OMIM:612164;OMIM:612313;OMIM:612337;OMIM:612580;OMIM:612581;OMIM:612621;OMIM:612703;OMIM:612900;OMIM:612949;OMIM:613192;OMIM:613402;OMIM:613443;OMIM:613454;OMIM:613477;OMIM:613670;OMIM:613676;OMIM:613684;OMIM:613720;OMIM:613721;OMIM:613722;OMIM:613970;OMIM:614019;OMIM:614020;OMIM:614104;OMIM:614113;OMIM:614202;OMIM:614208;OMIM:614228;OMIM:614249;OMIM:614254;OMIM:614255;OMIM:614256;OMIM:614257;OMIM:614300;OMIM:614325;OMIM:614329;OMIM:614333;OMIM:614340;OMIM:614341;OMIM:614342;OMIM:614343;OMIM:614344;OMIM:614345;OMIM:614346;OMIM:614347;OMIM:614498;OMIM:614499;OMIM:614558;OMIM:614563;OMIM:614673;OMIM:614678;OMIM:614820;OMIM:614852;OMIM:614959;OMIM:615006;OMIM:615009;OMIM:615074;OMIM:615075;OMIM:615095;OMIM:615338;OMIM:615369;OMIM:615414;OMIM:615473;OMIM:615476;OMIM:615493;OMIM:615502;OMIM:615516;OMIM:615547;OMIM:615722;OMIM:615744;OMIM:615763;OMIM:615802;OMIM:615817;OMIM:615828;OMIM:615829;OMIM:615833;OMIM:615834;OMIM:615859;OMIM:615871;OMIM:615873;OMIM:615905;OMIM:615942;OMIM:615979;OMIM:616051;OMIM:616056;OMIM:616078;OMIM:616080;OMIM:616081;OMIM:616116;OMIM:616139;OMIM:616171;OMIM:616193;OMIM:616211;OMIM:616268;OMIM:616311;OMIM:616335;OMIM:616339;OMIM:616341;OMIM:616346;OMIM:616351;OMIM:616355;OMIM:616364;OMIM:616366;OMIM:616393;OMIM:616402;OMIM:616409;OMIM:616457;OMIM:616459;OMIM:616460;OMIM:616486;OMIM:616521;OMIM:616579;OMIM:616580;OMIM:616645;OMIM:616647;OMIM:616681;OMIM:616739;OMIM:616789;OMIM:616863;OMIM:616875;OMIM:616887;OMIM:616917;OMIM:616944;OMIM:616973;OMIM:616975;OMIM:616977;OMIM:616981;OMIM:617008;OMIM:617020;OMIM:617028;OMIM:617061;OMIM:617062;OMIM:617065;OMIM:617090;OMIM:617105;OMIM:617106;OMIM:617113;OMIM:617125;OMIM:617132;OMIM:617153;OMIM:617157;OMIM:617162;OMIM:617166;OMIM:617169;OMIM:617171;OMIM:617183;OMIM:617188;OMIM:617268;OMIM:617270;OMIM:617276;OMIM:617281;OMIM:617323;OMIM:617333;OMIM:617339;OMIM:617350;OMIM:617389;OMIM:617391;OMIM:617393;OMIM:617432;OMIM:617450;OMIM:617452;OMIM:617481;OMIM:617493;OMIM:617516;OMIM:617519;OMIM:617520;OMIM:617523;OMIM:617527;OMIM:617532;OMIM:617599;OMIM:617600;OMIM:617601;OMIM:617635;OMIM:617665;OMIM:617668;OMIM:617694;OMIM:617709;OMIM:617710;OMIM:617711;OMIM:617751;OMIM:617752;OMIM:617755;OMIM:617771;OMIM:617773;OMIM:617787;OMIM:617788;OMIM:617796;OMIM:617798;OMIM:617799;OMIM:617800;OMIM:617802;OMIM:617804;OMIM:617807;OMIM:617808;OMIM:617816;OMIM:617820;OMIM:617829;OMIM:617830;OMIM:617831;OMIM:617836;OMIM:617854;OMIM:617862;OMIM:617863;OMIM:617864;OMIM:617865;OMIM:617903;OMIM:617904;OMIM:617913;OMIM:617914;OMIM:617929;OMIM:617933;OMIM:617938;OMIM:617976;OMIM:617977;OMIM:617982;OMIM:617983;OMIM:617984;OMIM:617985;OMIM:618004;OMIM:618008;OMIM:618009;OMIM:618012;OMIM:618050;OMIM:618056;OMIM:618067;OMIM:618076;OMIM:618088;OMIM:618089;OMIM:618090;OMIM:618092;OMIM:618095;OMIM:618103;OMIM:618106;OMIM:618109;OMIM:618141;OMIM:618156;OMIM:618179;OMIM:618195;OMIM:618201;OMIM:618221;OMIM:618285;OMIM:618292;OMIM:618295;OMIM:618298;OMIM:618302;OMIM:618328;OMIM:618351;OMIM:618354;OMIM:618356;OMIM:618367;OMIM:618374;OMIM:618379;OMIM:618383;OMIM:618396;OMIM:618402;OMIM:618425;OMIM:618428;OMIM:618430;OMIM:618437;OMIM:618443;OMIM:618468;OMIM:618480;OMIM:618492;OMIM:618497;OMIM:618504;OMIM:618505;OMIM:618522;OMIM:618547;OMIM:618548;OMIM:618557;OMIM:618559;OMIM:618569;OMIM:618571;OMIM:618572;OMIM:618577;OMIM:618580;OMIM:618587;OMIM:618603;OMIM:618622;OMIM:618651;OMIM:618659;OMIM:618663;OMIM:618665;OMIM:618707;OMIM:618709;OMIM:618718;OMIM:618721;OMIM:618730;OMIM:618731;OMIM:618732;OMIM:618741;OMIM:618744;OMIM:618760;OMIM:618792;OMIM:618793;OMIM:618797;OMIM:618825;OMIM:618828;OMIM:618829;OMIM:618859;OMIM:618862;OMIM:618879;OMIM:618890;OMIM:618910;OMIM:618916;OMIM:618917;OMIM:618922;OMIM:618959;OMIM:619005;OMIM:619026;OMIM:619056;OMIM:619072;OMIM:619075;OMIM:619076;OMIM:619083;OMIM:619091;OMIM:619092;OMIM:619103;OMIM:619121;OMIM:619124;OMIM:619157;OMIM:619179;OMIM:619180;OMIM:619188;OMIM:619239;OMIM:619244;OMIM:619264;OMIM:619268;OMIM:619286;OMIM:619306;OMIM:619311;OMIM:619317;OMIM:619320;OMIM:619323;OMIM:619333;OMIM:619340;OMIM:619373;OMIM:619383;OMIM:619453;OMIM:619470;OMIM:619480;OMIM:619503;OMIM:619512;OMIM:619517;OMIM:619561;OMIM:619576;OMIM:619580;OMIM:619605;OMIM:619606;OMIM:619616;OMIM:619639;OMIM:619651;OMIM:619653;OMIM:619680;OMIM:619685;OMIM:619690;OMIM:619699;OMIM:619701;OMIM:619717;OMIM:619725;OMIM:619777;OMIM:619797;OMIM:619814;OMIM:619827;OMIM:619833;OMIM:619841;OMIM:619854;OMIM:619873;OMIM:619876;OMIM:619877;OMIM:619880;OMIM:619881;OMIM:619908;OMIM:619910;OMIM:619913;OMIM:619922;OMIM:619927;OMIM:619931;OMIM:619934;OMIM:619955;OMIM:619970;OMIM:619971;OMIM:619972;OMIM:619983;OMIM:619988;OMIM:619989;OMIM:619995;OMIM:620001;OMIM:620023;OMIM:620024;OMIM:620027;OMIM:620028;OMIM:620029;OMIM:620033;OMIM:620038;OMIM:620047;OMIM:620066;OMIM:620070;OMIM:620071;OMIM:620073;OMIM:620075;OMIM:620083;OMIM:620094;OMIM:620113;OMIM:620114;OMIM:620115;OMIM:620145;OMIM:620149;OMIM:620157;OMIM:620183;OMIM:620191;OMIM:620194;OMIM:620210;OMIM:620224;OMIM:620237;OMIM:620242;OMIM:620250;OMIM:620270;OMIM:620292;OMIM:620317;OMIM:620330;OMIM:620352;OMIM:620371;OMIM:620393;OMIM:620428;OMIM:620439;OMIM:620445;OMIM:620450;OMIM:620455;OMIM:620489;OMIM:620494;OMIM:620502;OMIM:620504;OMIM:620515;OMIM:620537;OMIM:620653;OMIM:620688;OMIM:620700;OMIM:620719;OMIM:620732;OMIM:620746;OMIM:620747;OMIM:620771;OMIM:620772;OMIM:620774;OMIM:620779;OMIM:620782;OMIM:620783;OMIM:620784;OMIM:620785;OMIM:620789;OMIM:620790;OMIM:620806;OMIM:620820;OMIM:620851;OMIM:620852;OMIM:620888;OMIM:620910;OMIM:620937;OMIM:620985;OMIM:620988;OMIM:621012;OMIM:621016;OMIM:621021;OMIM:621034;OMIM:621060;OMIM:621067;OMIM:621068;OMIM:621100;OMIM:621102;OMIM:621122;OMIM:621150;OMIM:621152;OMIM:621154;OMIM:621182;OMIM:621199;OMIM:621201;OMIM:621212;OMIM:621250;OMIM:621263;OMIM:621265;OMIM:621285;OMIM:621302;OMIM:621304;OMIM:621328;OMIM:621344;OMIM:621354;OMIM:621372;OMIM:621377;OMIM:621379;OMIM:621382;OMIM:621390;OMIM:621393;OMIM:621421;OMIM:621436;OMIM:621455;OMIM:621456;OMIM:621460;OMIM:621468;OMIM:621474;OMIM:621475;OMIM:621482;OMIM:621506;OMIM:621507;OMIM:621533;OMIM:621539;OMIM:621552;ORPHA:100973;ORPHA:127;ORPHA:137831;ORPHA:1436;ORPHA:1568;ORPHA:163937;ORPHA:163956;ORPHA:163971;ORPHA:163976;ORPHA:163979;ORPHA:163985;ORPHA:168577;ORPHA:168782;ORPHA:1762;ORPHA:177901;ORPHA:177904;ORPHA:177907;ORPHA:177910;ORPHA:192;ORPHA:1920;ORPHA:193;ORPHA:1934;ORPHA:2131;ORPHA:2152;ORPHA:2254;ORPHA:2332;ORPHA:2379;ORPHA:2382;ORPHA:251019;ORPHA:2512;ORPHA:251383;ORPHA:2514;ORPHA:2518;ORPHA:2526;ORPHA:2588;ORPHA:261537;ORPHA:261552;ORPHA:2637;ORPHA:268261;ORPHA:2750;ORPHA:276432;ORPHA:289266;ORPHA:289483;ORPHA:2898;ORPHA:293707;ORPHA:293939;ORPHA:2958;ORPHA:3051;ORPHA:3052;ORPHA:3055;ORPHA:3063;ORPHA:3077;ORPHA:3078;ORPHA:3079;ORPHA:3080;ORPHA:3095;ORPHA:314034;ORPHA:3242;ORPHA:324313;ORPHA:324410;ORPHA:324422;ORPHA:329224;ORPHA:329228;ORPHA:3454;ORPHA:3459;ORPHA:352490;ORPHA:352665;ORPHA:353277;ORPHA:353281;ORPHA:353284;ORPHA:356996;ORPHA:363611;ORPHA:363654;ORPHA:363686;ORPHA:364028;ORPHA:369891;ORPHA:391372;ORPHA:397933;ORPHA:398069;ORPHA:401777;ORPHA:401923;ORPHA:404448;ORPHA:404473;ORPHA:411986;ORPHA:412069;ORPHA:420561;ORPHA:439218;ORPHA:453499;ORPHA:453504;ORPHA:457193;ORPHA:457240;ORPHA:457260;ORPHA:457279;ORPHA:464288;ORPHA:464306;ORPHA:464311;ORPHA:466791;ORPHA:468620;ORPHA:468678;ORPHA:476126;ORPHA:480907;ORPHA:485350;ORPHA:487825;ORPHA:488613;ORPHA:488635;ORPHA:494344;ORPHA:495818;ORPHA:496790;ORPHA:50;ORPHA:500055;ORPHA:500159;ORPHA:500166;ORPHA:500545;ORPHA:502434;ORPHA:505237;ORPHA:505652;ORPHA:52055;ORPHA:521426;ORPHA:544254;ORPHA:544469;ORPHA:544488;ORPHA:544503;ORPHA:561854;ORPHA:572798;ORPHA:576283;ORPHA:59;ORPHA:599373;ORPHA:67045;ORPHA:739;ORPHA:776;ORPHA:778;ORPHA:783;ORPHA:798;ORPHA:819;ORPHA:847;ORPHA:85273;ORPHA:85274;ORPHA:85275;ORPHA:85277;ORPHA:85279;ORPHA:85280;ORPHA:85282;ORPHA:85285;ORPHA:85286;ORPHA:85287;ORPHA:85288;ORPHA:85290;ORPHA:85293;ORPHA:85317;ORPHA:85319;ORPHA:85320;ORPHA:85322;ORPHA:85323;ORPHA:85324;ORPHA:85325;ORPHA:85326;ORPHA:85327;ORPHA:85329;ORPHA:85332;ORPHA:85335;ORPHA:85338;ORPHA:904;ORPHA:93932;ORPHA:93945;ORPHA:93946;ORPHA:93947;ORPHA:93950;ORPHA:93952;ORPHA:94083;ORPHA:95702;ORPHA:97;ORPHA:97297;ORPHA:98754;ORPHA:98758;ORPHA:98793;ORPHA:98818;ORPHA:99742	2941	10	0	0	0	2931	
MONDO:0700374	CFAP418-related ciliopathy	subtree_only	7									OMIM:614500;OMIM:617406	30	5	0	2	0	25	
MONDO:0700380	RHO-related retinopathy	subtree_only	6									OMIM:610445;OMIM:613731	16	5	1	0	0	11	
MONDO:0800031	central hypoventilation syndrome, congenital	subtree_only	5									OMIM:209880;OMIM:619482;OMIM:619483;ORPHA:661	54	4	1	0	0	50	
MONDO:0800444	Birt-Hogg-Dube syndrome	subtree_only	5									OMIM:135150;OMIM:620459;ORPHA:122	32	4	1	0	0	28	
MONDO:1040001	TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations	subtree_only	12									OMIM:103285;OMIM:106260;OMIM:129400;OMIM:604292;OMIM:605289;ORPHA:1071;ORPHA:978	177	11	1	0	0	166	
MONDO:1060123	GRIN1-related complex neurodevelopmental disorder	subtree_only	19									OMIM:614254;OMIM:617820;OMIM:619814	64	17	1	1	0	47	
MONDO:1060223	RNU12-related minor spliceopathy disorder	subtree_only	7									OMIM:603116;OMIM:620208;ORPHA:85199	72	0	2	5	0	72	
MONDO:0000330	endemic typhus	mapped_but_unannotated	23																
MONDO:0000565	infective endocarditis	mapped_but_unannotated	9																
MONDO:0000645	fallopian tube benign neoplasm	mapped_but_unannotated	4																
MONDO:0001280	choroiditis	mapped_but_unannotated	17																
MONDO:0001325	penile cancer	mapped_but_unannotated	3																
MONDO:0001569	acoustic neuroma	mapped_but_unannotated	3																
MONDO:0001633	central retinal artery occlusion	mapped_but_unannotated	6																
MONDO:0002158	fallopian tube cancer	mapped_but_unannotated	6																
MONDO:0002571	primary central nervous system lymphoma	mapped_but_unannotated	11																
MONDO:0002687	superior mesenteric artery syndrome	mapped_but_unannotated	13																
MONDO:0003125	testicular sex cord-stromal neoplasm	mapped_but_unannotated	6																
MONDO:0003669	testicular seminoma	mapped_but_unannotated	5																
MONDO:0004334	non-functional pancreatic neuroendocrine tumor	mapped_but_unannotated	5																
MONDO:0004958	oral cavity squamous cell carcinoma	mapped_but_unannotated	6																
MONDO:0005005	clear cell renal carcinoma	mapped_but_unannotated	6																
MONDO:0005058	leiomyosarcoma	mapped_but_unannotated	2																
MONDO:0005077	pertussis	mapped_but_unannotated	7																
MONDO:0005130	celiac disease	mapped_but_unannotated	22																
MONDO:0005153	cervical adenocarcinoma	mapped_but_unannotated	3																
MONDO:0005215	vulvar carcinoma	mapped_but_unannotated	5																
MONDO:0005440	embryonal carcinoma	mapped_but_unannotated	7																
MONDO:0005504	diphtheria	mapped_but_unannotated	22																
MONDO:0005505	dysembryoplastic neuroepithelial tumor	mapped_but_unannotated	1																
MONDO:0005595	laryngeal squamous cell carcinoma	mapped_but_unannotated	6																
MONDO:0005601	ovarian mucinous adenocarcinoma	mapped_but_unannotated	4																
MONDO:0005674	bone giant cell tumor	mapped_but_unannotated	9																
MONDO:0005725	cyclosporiasis	mapped_but_unannotated	10																
MONDO:0005744	yolk sac tumor	mapped_but_unannotated	5																
MONDO:0005754	epilepsy with generalized tonic-clonic seizures	mapped_but_unannotated	3																
MONDO:0005774	glanders	mapped_but_unannotated	2																
MONDO:0005888	ornithosis	mapped_but_unannotated	4																
MONDO:0005916	placenta accreta	mapped_but_unannotated	1																
MONDO:0005952	scarlet fever	mapped_but_unannotated	5																
MONDO:0006143	cervical squamous cell carcinoma	mapped_but_unannotated	5																
MONDO:0006210	fibrolamellar hepatocellular carcinoma	mapped_but_unannotated	9																
MONDO:0006335	ovarian endometrioid adenocarcinoma	mapped_but_unannotated	4																
MONDO:0007074	ainhum	mapped_but_unannotated	7																
MONDO:0007385	idiopathic spontaneous coronary artery dissection	mapped_but_unannotated	6																
MONDO:0007899	lichen sclerosus et atrophicus	mapped_but_unannotated	7																
MONDO:0008705	lysosomal acid phosphatase deficiency	mapped_but_unannotated	1																
MONDO:0009412	scurvy	mapped_but_unannotated	6																
MONDO:0009718	myxedema	mapped_but_unannotated	12																
MONDO:0010098	taurodontism	mapped_but_unannotated	5																
MONDO:0010118	inherited threoninemia	mapped_but_unannotated	10																
MONDO:0010777	cardiomyopathy, infantile hypertrophic	mapped_but_unannotated	9																
MONDO:0010781	ataxia and polyneuropathy, adult-onset	mapped_but_unannotated	9																
MONDO:0010796	Parkinson disease, mitochondrial	mapped_but_unannotated	6																
MONDO:0010888	adenomyosis	mapped_but_unannotated	6																
MONDO:0011441	complex regional pain syndrome type 1	mapped_but_unannotated	8																
MONDO:0011644	pars planitis	mapped_but_unannotated	7																
MONDO:0011662	pathological gambling	mapped_but_unannotated	2																
MONDO:0011882	skin fragility-woolly hair-palmoplantar keratoderma syndrome	mapped_but_unannotated	3																
MONDO:0013317	torsade-de-pointes syndrome with short coupling interval	mapped_but_unannotated	7																
MONDO:0015166	acute myeloid leukemia with t(8;21)(q22;q22) translocation	mapped_but_unannotated	6																
MONDO:0015175	autoimmune pancreatitis	mapped_but_unannotated	10																
MONDO:0015254	schistosomiasis	mapped_but_unannotated	5																
MONDO:0015459	nasopharyngeal carcinoma	mapped_but_unannotated	6																
MONDO:0015523	epithelioid hemangioendothelioma	mapped_but_unannotated	9																
MONDO:0015528	congenital epulis	mapped_but_unannotated	3																
MONDO:0015798	inflammatory myofibroblastic tumor	mapped_but_unannotated	8																
MONDO:0015811	primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma	mapped_but_unannotated	3																
MONDO:0015864	mixed germ cell tumor	mapped_but_unannotated	8																
MONDO:0016096	malignant non-dysgerminomatous germ cell tumor of ovary	mapped_but_unannotated	5																
MONDO:0016280	sarcoma of cervix uteri	mapped_but_unannotated	3																
MONDO:0016499	autoimmune autonomic ganglionopathy	mapped_but_unannotated	11																
MONDO:0016686	diffuse astrocytoma	mapped_but_unannotated	4																
MONDO:0016691	pilocytic astrocytoma	mapped_but_unannotated	3																
MONDO:0016702	oligoastrocytoma	mapped_but_unannotated	4																
MONDO:0016718	choroid plexus carcinoma	mapped_but_unannotated	4																
MONDO:0016746	meningeal melanocytoma	mapped_but_unannotated	11																
MONDO:0016984	nevus of Ota	mapped_but_unannotated	4																
MONDO:0017124	noma	mapped_but_unannotated	10																
MONDO:0017137	onchocerciasis	mapped_but_unannotated	8																
MONDO:0017149	drug- or toxin-induced pulmonary arterial hypertension	mapped_but_unannotated	6																
MONDO:0017299	acute annular outer retinopathy	mapped_but_unannotated	6																
MONDO:0017387	epithelioid sarcoma	mapped_but_unannotated	3																
MONDO:0017392	pre-descemet corneal dystrophy	mapped_but_unannotated	3																
MONDO:0017781	12p12.1 microdeletion syndrome	mapped_but_unannotated	12																
MONDO:0017795	ameloblastoma	mapped_but_unannotated	3																
MONDO:0017803	primary progressive apraxia of speech	mapped_but_unannotated	5																
MONDO:0017816	primary systemic amyloidosis	mapped_but_unannotated	13																
MONDO:0017827	malignant peripheral nerve sheath tumor	mapped_but_unannotated	3																
MONDO:0017862	paraquat poisoning	mapped_but_unannotated	15																
MONDO:0017879	hantavirus pulmonary syndrome	mapped_but_unannotated	16																
MONDO:0017885	chromophobe renal cell carcinoma	mapped_but_unannotated	4																
MONDO:0017894	acute myeloid leukemia with CEBPA somatic mutations	mapped_but_unannotated	9																
MONDO:0018076	tuberculosis	mapped_but_unannotated	10																
MONDO:0018171	malignant germ cell tumor of ovary	mapped_but_unannotated	12																
MONDO:0018181	staphylococcal scalded skin syndrome	mapped_but_unannotated	13																
MONDO:0018315	X-linked osteoporosis with fractures	mapped_but_unannotated	7																
MONDO:0018324	adult-onset myasthenia gravis	mapped_but_unannotated	9																
MONDO:0018327	glomus tumor	mapped_but_unannotated	6																
MONDO:0018352	squamous cell carcinoma of penis	mapped_but_unannotated	3																
MONDO:0018484	semicircular canal dehiscence syndrome	mapped_but_unannotated	8																
MONDO:0018500	cutaneous larva migrans	mapped_but_unannotated	5																
MONDO:0018523	pancreatic mucinous cystadenoma	mapped_but_unannotated	11																
MONDO:0018554	pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis	mapped_but_unannotated	8																
MONDO:0018593	primary polyarteritis nodosa	mapped_but_unannotated	12																
MONDO:0018615	hemicrania continua	mapped_but_unannotated	10																
MONDO:0018616	central serous chorioretinopathy	mapped_but_unannotated	9																
MONDO:0018626	paratyphoid fever	mapped_but_unannotated	6																
MONDO:0018635	idiopathic phalangeal acro-osteolysis	mapped_but_unannotated	7																
MONDO:0018645	IgG4-related sclerosing cholangitis	mapped_but_unannotated	7																
MONDO:0018666	hepatoblastoma	mapped_but_unannotated	2																
MONDO:0018687	progressive muscular atrophy	mapped_but_unannotated	7																
MONDO:0018741	paracetamol poisoning	mapped_but_unannotated	10																
MONDO:0018754	cyanide poisoning	mapped_but_unannotated	15																
MONDO:0018805	bile duct cyst	mapped_but_unannotated	8																
MONDO:0018815	aneurysmal bone cyst	mapped_but_unannotated	5																
MONDO:0018872	acute megakaryoblastic leukemia	mapped_but_unannotated	4																
MONDO:0018935	hairy cell leukemia	mapped_but_unannotated	5																
MONDO:0018984	Oroya fever	mapped_but_unannotated	10																
MONDO:0019140	acute ackee fruit intoxication	mapped_but_unannotated	6																
MONDO:0019147	myiasis	mapped_but_unannotated	17																
MONDO:0019359	Rocky mountain spotted fever	mapped_but_unannotated	25																
MONDO:0019450	lissencephaly with cerebellar hypoplasia	mapped_but_unannotated	7																
MONDO:0019462	splenic marginal zone lymphoma	mapped_but_unannotated	7																
MONDO:0019466	lymphomatoid granulomatosis	mapped_but_unannotated	4																
MONDO:0019467	CD4+/CD56+ hematodermic neoplasm	mapped_but_unannotated	10																
MONDO:0019470	aggressive NK-cell leukemia	mapped_but_unannotated	9																
MONDO:0019471	adult T-cell leukemia/lymphoma	mapped_but_unannotated	7																
MONDO:0019474	hepatosplenic T-cell lymphoma	mapped_but_unannotated	8																
MONDO:0019484	hypothalamic hamartomas with gelastic seizures	mapped_but_unannotated	12																
MONDO:0019485	idiopathic hemiconvulsion-hemiplegia syndrome	mapped_but_unannotated	5																
MONDO:0019487	epilepsy with myoclonic absences	mapped_but_unannotated	6																
MONDO:0019669	hypochondrogenesis	mapped_but_unannotated	17																
MONDO:0019730	light chain deposition disease	mapped_but_unannotated	6																
MONDO:0019753	localized Castleman disease	mapped_but_unannotated	8																
MONDO:0019805	twin to twin transfusion syndrome	mapped_but_unannotated	9																
MONDO:0019993	congenital renal artery stenosis	mapped_but_unannotated	4																
MONDO:0020307	self-limited epilepsy with autonomic seizures	mapped_but_unannotated	9																
MONDO:0020308	childhood occipital visual epilepsy	mapped_but_unannotated	5																
MONDO:0020325	anaplastic large cell lymphoma	mapped_but_unannotated	5																
MONDO:0020348	acute motor and sensory axonal neuropathy	mapped_but_unannotated	10																
MONDO:0020476	mesial temporal lobe epilepsy with hippocampal sclerosis	mapped_but_unannotated	2																
MONDO:0020516	thymic neuroendocrine carcinoma	mapped_but_unannotated	15																
MONDO:0020541	maligant granulosa cell tumor of ovary	mapped_but_unannotated	4																
MONDO:0020542	malignant Sertoli-Leydig cell tumor of ovary	mapped_but_unannotated	6																
MONDO:0020743	mixed phenotype acute leukemia	mapped_but_unannotated	14																
MONDO:0024336	vulvar adenocarcinoma	mapped_but_unannotated	5																
MONDO:0027664	cisplatin toxicity	mapped_but_unannotated	10																
MONDO:0027677	isoniazid toxicity	mapped_but_unannotated	10																
MONDO:0033954	monoclonal mast cell activation syndrome	mapped_but_unannotated	5																
MONDO:0035534	DONSON-related microcephaly-short stature-limb abnormalities spectrum	mapped_but_unannotated	9																
MONDO:0035540	pheochromocytoma-paraganglioma	mapped_but_unannotated	25																
MONDO:0035605	B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality	mapped_but_unannotated	4																
MONDO:0035663	neuromyelitis optica spectrum disorder with anti-AQP4 antibodies	mapped_but_unannotated	4																
MONDO:0044067	candidiasis, invasive	mapped_but_unannotated	5																
MONDO:0044627	acute macular neuroretinopathy	mapped_but_unannotated	3																
MONDO:0044705	paranasal sinus squamous cell carcinoma	mapped_but_unannotated	6																
MONDO:0044739	Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome	mapped_but_unannotated	6																
MONDO:0100115	acute flaccid myelitis	mapped_but_unannotated	10																
MONDO:0100116	Middle East respiratory syndrome	mapped_but_unannotated	10																
MONDO:0700393	idiopathic triglyceride deposit cardiomyovasculopathy	mapped_but_unannotated	3																
MONDO:0850046	amniotic fluid embolism	mapped_but_unannotated	14																
MONDO:0850112	breast implant-associated anaplastic large cell lymphoma	mapped_but_unannotated	1																
MONDO:0859565	atrioventricular septal defect	mapped_but_unannotated	7																
MONDO:0957452	segmental arterial mediolysis	mapped_but_unannotated	9																
MONDO:0975898	post-selective serotonin reuptake inhibitor sexual dysfunction	mapped_but_unannotated	9																
MONDO:0979258	cerebral proliferative angiopathy	mapped_but_unannotated	5																
MONDO:0979323	carotid web	mapped_but_unannotated	2																
MONDO:0000082	pelvic organ prolapse	unmapped	9																
MONDO:0000262	otomycosis	unmapped	3																
MONDO:0000288	polycystic echinococcosis	unmapped	3																
MONDO:0000327	Buruli ulcer disease	unmapped	1																
MONDO:0000341	paralytic poliomyelitis	unmapped	7																
MONDO:0000409	chorioamnionitis	unmapped	15																
MONDO:0000481	cervical dystonia	unmapped	5																
MONDO:0000485	spasmodic dystonia	unmapped	5																
MONDO:0000495	oppositional defiant disorder	unmapped	7																
MONDO:0000521	salivary gland carcinoma	unmapped	5																
MONDO:0000548	ovarian clear cell cancer	unmapped	2																
MONDO:0000660	akinetopsia	unmapped	1																
MONDO:0000690	body dysmorphic disorder	unmapped	5																
MONDO:0000705	Clostridium difficile colitis	unmapped	8																
MONDO:0000755	ectopic pregnancy	unmapped	10																
MONDO:0000878	cytomegalovirus retinitis	unmapped	8																
MONDO:0000890	Zika virus congenital syndrome	unmapped	14																
MONDO:0000922	pelvic inflammatory disease	unmapped	13																
MONDO:0000956	small intestine cancer	unmapped	8																
MONDO:0000979	pinta disease	unmapped	1																
MONDO:0000989	mumps infectious disease	unmapped	8																
MONDO:0001044	esophageal atresia	unmapped	15																
MONDO:0001103	giardiasis	unmapped	11																
MONDO:0001126	gastric ulcer	unmapped	1																
MONDO:0001156	borderline personality disorder	unmapped	8																
MONDO:0001159	multiple personality disorder	unmapped	4																
MONDO:0001200	secondary hypertension	unmapped	1																
MONDO:0001247	social phobia	unmapped	8																
MONDO:0001249	trachoma	unmapped	1																
MONDO:0001290	allergic cutaneous vasculitis	unmapped	5																
MONDO:0001301	rumination disorder	unmapped	4																
MONDO:0001302	hypertensive heart disease	unmapped	13																
MONDO:0001427	Dieulafoy lesion	unmapped	2																
MONDO:0001441	pica disease	unmapped	5																
MONDO:0001491	cough variant asthma	unmapped	3																
MONDO:0001577	respiratory syncytial virus infectious disease	unmapped	7																
MONDO:0001612	carotid stenosis	unmapped	5																
MONDO:0001631	vertebral artery insufficiency	unmapped	10																
MONDO:0001707	cardiac sarcoidosis	unmapped	9																
MONDO:0001714	bejel	unmapped	8																
MONDO:0001856	splenic artery aneurysm	unmapped	5																
MONDO:0001942	generalized anxiety disorder	unmapped	7																
MONDO:0002008	labyrinthitis	unmapped	6																
MONDO:0002056	breast fibroadenoma	unmapped	1																
MONDO:0002418	ethmoid sinus adenocarcinoma	unmapped	2																
MONDO:0002447	endometrial carcinoma	unmapped	4																
MONDO:0002492	acute kidney injury	unmapped	7																
MONDO:0002529	skin squamous cell carcinoma	unmapped	4																
MONDO:0002594	monkeypox	unmapped	14																
MONDO:0002695	sagittal sinus thrombosis	unmapped	7																
MONDO:0002926	clear cell sarcoma	unmapped	4																
MONDO:0002930	kidney sarcoma	unmapped	5																
MONDO:0003036	mucoepidermoid carcinoma	unmapped	2																
MONDO:0003245	aflatoxin-related hepatocellular carcinoma	unmapped	6																
MONDO:0003672	posterior myocardial infarction	unmapped	3																
MONDO:0003865	acral lentiginous melanoma	unmapped	4																
MONDO:0003940	Kummell disease	unmapped	4																
MONDO:0004277	gonorrhea	unmapped	13																
MONDO:0004450	carotid artery occlusion	unmapped	6																
MONDO:0004525	scabies	unmapped	2																
MONDO:0004619	measles	unmapped	9																
MONDO:0004629	subacute delirium	unmapped	8																
MONDO:0004635	postcricoid region cancer	unmapped	4																
MONDO:0004699	gastrointestinal lymphoma	unmapped	11																
MONDO:0004784	allergic asthma	unmapped	7																
MONDO:0004846	placental abruption	unmapped	12																
MONDO:0004971	adenoid cystic carcinoma	unmapped	7																
MONDO:0004979	asthma	unmapped	10																
MONDO:0005011	Crohn disease	unmapped	26																
MONDO:0005012	cutaneous melanoma	unmapped	12																
MONDO:0005030	fetal growth restriction	unmapped	10																
MONDO:0005036	gastric adenocarcinoma	unmapped	11																
MONDO:0005052	irritable bowel syndrome	unmapped	6																
MONDO:0005057	large cell neuroendocrine carcinoma	unmapped	2																
MONDO:0005061	lung adenocarcinoma	unmapped	7																
MONDO:0005068	myocardial infarction	unmapped	10																
MONDO:0005082	prostate adenocarcinoma	unmapped	5																
MONDO:0005101	ulcerative colitis	unmapped	14																
MONDO:0005114	pneumococcal infection	unmapped	4																
MONDO:0005133	endometriosis	unmapped	7																
MONDO:0005146	post-traumatic stress disorder	unmapped	4																
MONDO:0005161	human papilloma virus infection	unmapped	4																
MONDO:0005174	acute hypotension	unmapped	3																
MONDO:0005178	osteoarthritis	unmapped	3																
MONDO:0005184	pancreatic ductal adenocarcinoma	unmapped	9																
MONDO:0005211	ovarian serous adenocarcinoma	unmapped	6																
MONDO:0005231	hepatitis C virus infection	unmapped	12																
MONDO:0005266	diabetic retinopathy	unmapped	6																
MONDO:0005276	dental caries	unmapped	3																
MONDO:0005279	pulmonary embolism	unmapped	12																
MONDO:0005300	chronic kidney disease	unmapped	7																
MONDO:0005301	multiple sclerosis	unmapped	22																
MONDO:0005306	ankylosing spondylitis	unmapped	10																
MONDO:0005316	bacterial vaginosis	unmapped	2																
MONDO:0005341	skin basal cell carcinoma	unmapped	7																
MONDO:0005344	hepatitis B virus infection	unmapped	10																
MONDO:0005351	anorexia nervosa	unmapped	13																
MONDO:0005352	conduct disorder	unmapped	7																
MONDO:0005356	coronary vasospasm	unmapped	7																
MONDO:0005386	peripheral arterial disease	unmapped	4																
MONDO:0005391	restless legs syndrome	unmapped	3																
MONDO:0005393	gout	unmapped	4																
MONDO:0005396	thoracic aortic aneurysm	unmapped	9																
MONDO:0005404	myalgic encephalomeyelitis/chronic fatigue syndrome	unmapped	10																
MONDO:0005406	gestational diabetes	unmapped	4																
MONDO:0005411	gallbladder cancer	unmapped	7																
MONDO:0005425	podoconiosis	unmapped	5																
MONDO:0005452	bulimia nervosa	unmapped	9																
MONDO:0005480	contact dermatitis	unmapped	4																
MONDO:0005489	dyslexia	unmapped	4																
MONDO:0005494	triple-negative breast carcinoma	unmapped	2																
MONDO:0005530	opiate dependence	unmapped	19																
MONDO:0005546	fibromyalgia	unmapped	10																
MONDO:0005556	lupus nephritis	unmapped	5																
MONDO:0005582	binge eating disorder	unmapped	3																
MONDO:0005610	Kashin-Beck disease	unmapped	7																
MONDO:0005611	bladder transitional cell carcinoma	unmapped	3																
MONDO:0005665	Bell's palsy	unmapped	5																
MONDO:0005668	bird fancier's lung	unmapped	6																
MONDO:0005688	campylobacteriosis	unmapped	4																
MONDO:0005693	cauda equina syndrome	unmapped	9																
MONDO:0005700	chickenpox	unmapped	4																
MONDO:0005709	common cold	unmapped	5																
MONDO:0005779	hand, foot and mouth disease	unmapped	17																
MONDO:0005784	hantavirus hemorrhagic fever with renal syndrome	unmapped	23																
MONDO:0005788	hepatitis E virus infection	unmapped	2																
MONDO:0005790	hepatitis A virus infection	unmapped	4																
MONDO:0005867	Mycoplasma pneumoniae pneumonia	unmapped	3																
MONDO:0005885	optic neuritis	unmapped	12																
MONDO:0005904	pericarditis	unmapped	11																
MONDO:0005929	postpartum depression	unmapped	8																
MONDO:0005937	REM sleep behavior disorder	unmapped	3																
MONDO:0005960	silicosis	unmapped	9																
MONDO:0006018	Wissler syndrome	unmapped	12																
MONDO:0006019	yaws	unmapped	12																
MONDO:0006061	cervical artery dissection	unmapped	5																
MONDO:0006192	endometrial endometrioid adenocarcinoma	unmapped	3																
MONDO:0006235	granular cell tumor	unmapped	4																
MONDO:0006244	HER2 positive breast carcinoma	unmapped	2																
MONDO:0006345	palmar fibromatosis	unmapped	4																
MONDO:0006354	parathyroid hyperplasia	unmapped	9																
MONDO:0006365	Peutz-Jeghers polyp	unmapped	8																
MONDO:0006411	sinonasal undifferentiated carcinoma	unmapped	5																
MONDO:0006474	transitional cell carcinoma	unmapped	2																
MONDO:0006512	estrogen-receptor positive breast cancer	unmapped	2																
MONDO:0006530	cholesteatoma	unmapped	6																
MONDO:0006544	erythema infectiosum	unmapped	6																
MONDO:0006552	folliculitis	unmapped	5																
MONDO:0006576	Ludwig's angina	unmapped	9																
MONDO:0006585	neurodermatitis	unmapped	1																
MONDO:0006604	rosacea	unmapped	9																
MONDO:0006608	seborrheic dermatitis	unmapped	4																
MONDO:0006650	anterior spinal artery syndrome	unmapped	6																
MONDO:0006654	anthracosis	unmapped	10																
MONDO:0006656	aortitis	unmapped	8																
MONDO:0006670	bacterial meningitis	unmapped	9																
MONDO:0006688	byssinosis	unmapped	7																
MONDO:0006692	central pontine myelinolysis	unmapped	3																
MONDO:0006722	dental fluorosis	unmapped	3																
MONDO:0006733	dry eye syndrome	unmapped	7																
MONDO:0006746	endomyocardial fibrosis	unmapped	15																
MONDO:0006760	fetal erythroblastosis	unmapped	7																
MONDO:0006797	hypertensive retinopathy	unmapped	7																
MONDO:0006823	Klinefelter syndrome	unmapped	13																
MONDO:0006835	lipoid nephrosis	unmapped	7																
MONDO:0006945	renal artery obstruction	unmapped	10																
MONDO:0006955	rheumatic heart disease	unmapped	11																
MONDO:0008661	vitiligo	unmapped	9																
MONDO:0011438	acne	unmapped	6																
MONDO:0012268	AIDS	unmapped	2																
MONDO:0013098	noise induced hearing loss	unmapped	3																
MONDO:0019735	polymyalgia rheumatica	unmapped	4																
MONDO:0020384	Niemann-Pick disease type E	unmapped	2																
MONDO:0020688	spinal cord ischemia	unmapped	8																
MONDO:0020744	Mobitz type I atrioventricular block	unmapped	4																
MONDO:0020806	sinoatrial block	unmapped	7																
MONDO:0021553	transverse myelitis	unmapped	10																
MONDO:0021661	coronary atherosclerosis	unmapped	3																
MONDO:0021722	vulvodynia	unmapped	5																
MONDO:0022653	cardiomyopathy due to anthracyclines	unmapped	3																
MONDO:0022666	cassavism	unmapped	6																
MONDO:0023152	fibrocartilaginous embolism	unmapped	6																
MONDO:0023176	formaldehyde poisoning	unmapped	21																
MONDO:0024250	acute lichenoid pityriasis	unmapped	21																
MONDO:0024377	circadian rhythm sleep disorder, delayed sleep phase type	unmapped	6																
MONDO:0024381	circadian rhythm sleep disorder, jet lag type	unmapped	6																
MONDO:0024608	dientamoebiasis	unmapped	10																
MONDO:0026045	prurigo nodularis	unmapped	2																
MONDO:0031014	autoimmune gastritis	unmapped	9																
MONDO:0037251	congestive splenomegaly	unmapped	9																
MONDO:0040679	urothelial carcinoma	unmapped	3																
MONDO:0041996	thallium poisoning	unmapped	8																
MONDO:0042495	arteriosclerotic retinopathy	unmapped	1																
MONDO:0043230	ciguatera fish poisoning	unmapped	21																
MONDO:0043264	post-traumatic epilepsy	unmapped	2																
MONDO:0043267	rheumatoid vasculitis	unmapped	12																
MONDO:0043339	lathyrism	unmapped	12																
MONDO:0043512	traumatic encephalopathy	unmapped	4																
MONDO:0043523	cadmium poisoning	unmapped	12																
MONDO:0043693	alcoholic liver disease	unmapped	6																
MONDO:0043985	central nervous system lupus	unmapped	11																
MONDO:0044092	collagenous sprue	unmapped	7																
MONDO:0044884	tonsillar lymphoma	unmapped	8																
MONDO:0044923	acute myeloid leukemia with mutated NPM1	unmapped	7																
MONDO:0044926	oropharyngeal carcinoma	unmapped	6																
MONDO:0045047	neurosarcoidosis	unmapped	14																
MONDO:0100001	alpha-gal syndrome	unmapped	9																
MONDO:0100014	autoimmune retinopathy	unmapped	6																
MONDO:0100021	photosensitive occipital lobe epilepsy	unmapped	6																
MONDO:0100061	PRPS1 deficiency disorder	unmapped	17																
MONDO:0100094	cannabinoid hyperemesis syndrome	unmapped	5																
MONDO:0100096	COVID-19	unmapped	9																
MONDO:0100099	retrograde cricopharyngeus dysfunction	unmapped	4																
MONDO:0100135	Dravet syndrome	unmapped	49																
MONDO:0100144	Uner Tan Syndrome	unmapped	2																
MONDO:0100163	COVID-19–associated multisystem inflammatory syndrome in children	unmapped	12																
MONDO:0100197	parainfluenza infectious disease	unmapped	6																
MONDO:0100222	A20 haploinsufficiency	unmapped	6																
MONDO:0100233	long COVID-19	unmapped	23																
MONDO:0100371	acute hepatitis C virus infection	unmapped	5																
MONDO:0100415	acute myeloid leukemia, FLT3 internal tandem duplication	unmapped	6																
MONDO:0100513	TRAF3 haploinsufficiency	unmapped	12																
MONDO:0100595	furunculosis	unmapped	2																
MONDO:0400000	small intestinal bacterial overgrowth	unmapped	8																
MONDO:0400003	skeletal fluorosis	unmapped	9																
MONDO:0400005	refeeding syndrome	unmapped	7																
MONDO:0700215	NTRK fusion positive cancer	unmapped	2																
MONDO:0700271	CHEK2-related cancer predisposition	unmapped	3																
MONDO:0700296	aflatoxicosis	unmapped	8																
MONDO:0700303	Erb palsy	unmapped	5																
MONDO:0700354	HMGB1-related brachyphalangy, polydactyly and tibial aplasia syndrome	unmapped	13																
MONDO:0800124	Lane Hamilton syndrome	unmapped	5																
MONDO:0800385	iron poisoning	unmapped	14																
MONDO:0800386	organophosphate poisoning	unmapped	14																
MONDO:0800387	sulfur mustard poisoning	unmapped	20																
MONDO:0800400	RP1-related dominant retinopathy	unmapped	9																
MONDO:0850110	melanoma in congenital melanocytic nevus	unmapped	5																
MONDO:0850196	medulloblastoma WNT activated	unmapped	4																
MONDO:0850197	medulloblastoma SHH activated	unmapped	4																
MONDO:0850335	IDH-wildtype glioblastoma	unmapped	5																
MONDO:0859592	IDH-mutant and 1p/19q-codeleted oligodendroglioma	unmapped	3																
MONDO:0956994	astrocytoma, IDH-mutant, grade 2	unmapped	4																
MONDO:0957524	COX deficiency, benign infantile mitochondrial myopathy	unmapped	6																
MONDO:0971031	auto-brewery syndrome	unmapped	7																
MONDO:1010179	type 5 diabetes mellitus	unmapped	1																
MONDO:1010182	premenstrual dysphoric disorder	unmapped	13																
MONDO:1040024	myelin oligodendrocyte glycoprotein antibody-associated disease	unmapped	11																
MONDO:1060148	empty nose syndrome	unmapped	11																
MONDO:1060166	giant cell hepatitis with autoimmune hemolytic anemia	unmapped	8																
MONDO:1060171	diffuse midline glioma, H3 K27-altered	unmapped	5																
MONDO:1060194	FAS-related autoimmune lymphoproliferative immune disorder	unmapped	10																
MONDO:1060198	ischemic stroke	unmapped	5																
MONDO:1060229	green tobacco sickness	unmapped	12																
MONDO:1060231	AIP-related pituitary adenoma predisposition	unmapped	6																
MONDO:7770002	avoidant/restrictive food intake disorder	unmapped	6