QC Dashboard - Phenotype Systems

Systems per disease

Left: the number of systems a disease appears in, counting a system as present if any phenotype falls under it (the facet's view). Right: the effective number of systems, exp of the Shannon entropy of phenotypes per system, which discounts a system that holds one stray finding. The gap between the two is how much the presence count overstates spread.

Which systems travel together

Every pair of systems, coloured by lift: the number of diseases in both, divided by the number expected if the two were independent. Red pairs co-occur more than chance, blue less; hover a cell for the count, lift and Jaccard index. Rows and columns are ordered by how many diseases each system has.

Strongest co-occurrence (lift, pairs with ≥ 25 diseases)

System	System	Diseases	Lift	Jaccard
Breast	Endocrine	28	4.07	0.07
Breast	Neoplasm	27	3.89	0.06
Blood	Cellular	168	3.15	0.20
Cellular	Immune	167	2.58	0.17
Respiratory	Voice	41	2.46	0.05
Cellular	Metabolism	214	2.44	0.17
Breast	Genitourinary	36	2.31	0.04
Blood	Immune	494	2.29	0.41
Cellular	Neoplasm	62	2.29	0.11
Prenatal and Birth	Respiratory	70	2.19	0.08
Endocrine	Genitourinary	222	2.18	0.21
Cellular	Respiratory	118	2.15	0.13

Most frequent pairs

System	System	Diseases	Lift	Jaccard
Musculoskeletal	Nervous System	1,408	1.21	0.56
Head and Neck	Musculoskeletal	1,056	1.52	0.52
Digestive	Nervous System	988	1.14	0.40
Eye	Nervous System	988	1.29	0.43
Head and Neck	Nervous System	988	1.23	0.42
Cardiovascular	Nervous System	898	1.01	0.34
Eye	Musculoskeletal	891	1.35	0.42
Digestive	Musculoskeletal	868	1.15	0.38
Metabolism	Nervous System	793	0.98	0.31
Growth	Musculoskeletal	789	1.42	0.39
Cardiovascular	Musculoskeletal	782	1.02	0.32
Cardiovascular	Digestive	766	1.33	0.39

Exact combinations of systems

An UpSet plot shows how often each exact set of systems recurs. Here 2,233 distinct combinations occur across 3,300 diseases, and 1,894 diseases (57.4%) have a combination shared by no other disease, so the plot below covers only the 30 most frequent combinations. The bar shows where the rest sit.

Diseases per system

System	Diseases	Share
Nervous System	2,110	64%
Musculoskeletal	1,824	55%
Cardiovascular	1,392	42%
Digestive	1,361	41%
Metabolism	1,260	38%
Head and Neck	1,254	38%
Eye	1,194	36%
Growth	1,003	30%
Integument	970	29%
Immune	928	28%
Genitourinary	873	26%
Respiratory	786	24%
Blood	766	23%
Constitutional	750	23%
Ear	748	23%
Limbs	698	21%
Neoplasm	388	12%
Endocrine	385	12%
Cellular	230	7%
Prenatal and Birth	134	4%
Voice	70	2%
Breast	59	2%
Thoracic Cavity	7	0%

Method

System: One of the 23 direct children of HP:0000118 (Phenotypic abnormality). A phenotype belongs to every system its HP term descends from, so an HP term under two branches counts once in each, exactly as the browser facet does.
Systems present: Number of systems with at least one phenotype.
Effective systems: exp(−Σ pᵢ ln pᵢ), where pᵢ is the share of the disease's system memberships held by system i. Equals the presence count when phenotypes are spread evenly, and approaches 1 when one system dominates.
Lift: Diseases in both systems ÷ (diseases in A × diseases in B ÷ all diseases).
Not counted: 395 phenotypes without an HP term and 31 whose term maps to no system (outside Phenotypic abnormality, or missing from the browser's category cache).

All diseases

Click a column header to sort. Dominant system shows the share of the disease's system memberships it holds.

Disease	Phenotypes	Systems present	Effective systems	Dominant system	Multi-system phenotypes
Fanconi_Anemia	183	20	15.3	Musculoskeletal (14%)	48
Rubinstein-Taybi Syndrome	22	17	14.9	Head and Neck (13%)	6
Kabuki Syndrome	28	16	14.6	Head and Neck (11%)	4
Bloom syndrome	20	15	13.7	Metabolism (14%)	6
Noonan Syndrome	40	17	13.6	Cardiovascular (16%)	7
Noonan Syndrome 6	48	17	13.5	Head and Neck (15%)	10
DEGCAGS Syndrome	56	16	13.4	Head and Neck (16%)	16
Sarcoidosis	40	16	13.4	Cardiovascular (14%)	12
MGAT2-congenital disorder of glycosylation	20	14	13.3	Musculoskeletal (12%)	3
Hereditary Orotic Aciduria	19	15	12.8	Genitourinary (14%)	6
Granulomatosis with Polyangiitis	66	16	12.5	Immune (20%)	20
Beare-Stevenson Cutis Gyrata Syndrome	62	18	12.4	Head and Neck (21%)	18
Wiedemann-Steiner Syndrome	25	15	12.0	Nervous System (20%)	3
MPDU1-congenital disorder of glycosylation	18	13	11.9	Eye (17%)	0
22q11.2 Duplication Syndrome	24	15	11.8	Nervous System (21%)	3
Rubella	15	14	11.8	Cardiovascular (19%)	8
Williams Syndrome	35	15	11.8	Nervous System (19%)	7
Congenital Vertebral-Cardiac-Renal Anomalies Syndrome	30	14	11.8	Musculoskeletal (19%)	5
Sanjad-Sakati Syndrome	16	13	11.8	Growth (13%)	4
PPP2R3C-Related Gonadal Dysgenesis Syndrome	28	14	11.7	Genitourinary (20%)	7
Myhre Syndrome	26	15	11.7	Head and Neck (18%)	6
Mulibrey Nanism	21	13	11.6	Genitourinary (14%)	7
Systemic Lupus Erythematosus	30	14	11.6	Immune (18%)	9
Meier-Gorlin syndrome	35	15	11.5	Musculoskeletal (24%)	10
MOGS-Congenital Disorder of Glycosylation	26	15	11.5	Head and Neck (18%)	5
Gaucher Disease	27	15	11.4	Musculoskeletal (20%)	10
Shashi-Pena Syndrome	17	13	11.3	Eye (14%)	3
Glycogen Storage Disease Type I	27	14	11.3	Metabolism (19%)	9
Giant Cell Arteritis	23	13	11.3	Eye (17%)	0
Formaldehyde Poisoning	23	13	11.3	Respiratory (17%)	9
Nijmegen breakage syndrome	10	12	11.3	Cellular (12%)	6
Transaldolase Deficiency	29	15	11.3	Genitourinary (19%)	7
Autosomal Recessive Osteopetrosis 1	32	15	11.2	Musculoskeletal (20%)	7
Hennekam lymphangiectasia-lymphedema syndrome 1	26	14	11.2	Digestive (16%)	8
CHOPS Syndrome	53	15	11.2	Nervous System (18%)	13
Mucolipidosis Type III Alpha/Beta	36	15	11.2	Musculoskeletal (24%)	8
CHARGE syndrome	28	13	11.1	Nervous System (20%)	5
Leptospirosis	16	12	11.1	Blood (13%)	5
Vici Syndrome	27	14	11.1	Nervous System (25%)	3
H Syndrome	19	13	11.1	Cardiovascular (14%)	8
Hypopigmentation, Organomegaly, and Delayed Myelination and Development	15	12	11.0	Immune (14%)	3
DK1-congenital disorder of glycosylation	15	12	11.0	Nervous System (17%)	2
Toxic Oil Syndrome	22	12	11.0	Respiratory (15%)	4
Toxic Shock Syndrome	16	12	11.0	Immune (18%)	5
Mucopolysaccharidosis-Plus Syndrome	34	13	11.0	Cardiovascular (16%)	12
TMEM165-Congenital Disorder of Glycosylation	35	14	10.9	Musculoskeletal (21%)	6
Yao Syndrome	18	13	10.9	Metabolism (19%)	6
Diamond-Blackfan Anemia 15 with Mandibulofacial Dysostosis	17	13	10.9	Head and Neck (23%)	5
Kawasaki Disease	40	14	10.9	Cardiovascular (19%)	15
PGM1-congenital disorder of glycosylation	34	12	10.9	Cardiovascular (16%)	3
Disabling Pansclerotic Morphea of Childhood	29	14	10.8	Immune (19%)	9
Mevalonate Kinase Deficiency	18	13	10.8	Immune (18%)	7
Alagille syndrome	31	13	10.7	Cardiovascular (20%)	7
Kilquist syndrome	9	11	10.7	Head and Neck (17%)	1
POEMS Syndrome	9	11	10.7	Cardiovascular (17%)	2
Sjogren's Syndrome	31	13	10.7	Immune (20%)	6
Sickle Cell Disease	21	12	10.7	Cardiovascular (13%)	7
Hennekam lymphangiectasia-lymphedema syndrome 2	17	12	10.7	Head and Neck (17%)	3
Boutonneuse fever	26	13	10.6	Integument (19%)	12
Sphingosine Phosphate Lyase Insufficiency Syndrome	25	13	10.6	Nervous System (20%)	4
Lethal Congenital Contracture Syndrome	44	16	10.6	Musculoskeletal (25%)	13
CINCA Syndrome	22	13	10.6	Immune (17%)	7
Schimke immuno-osseous dysplasia	19	12	10.5	Blood (17%)	4
Rosai-Dorfman Disease	15	12	10.5	Immune (18%)	4
47,XYY Syndrome	27	14	10.5	Nervous System (25%)	5
Prolidase Deficiency	24	13	10.4	Immune (24%)	9
Celiac Disease	22	12	10.4	Digestive (19%)	4
SECISBP2 Deficiency	11	11	10.4	Growth (14%)	1
Wilson Disease	73	15	10.3	Nervous System (28%)	16
Sandestig-Stefanova Syndrome	40	13	10.3	Head and Neck (17%)	6
COX14-Related COX Deficiency	16	12	10.3	Nervous System (21%)	3
Myasthenia Gravis	38	16	10.3	Immune (24%)	11
Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia	27	15	10.3	Blood (28%)	12
Bone Marrow Failure Syndrome 4	38	15	10.2	Blood (23%)	19
FBXL4-Related Mitochondrial DNA Depletion Syndrome	34	14	10.2	Nervous System (27%)	6
Cardiofacioneurodevelopmental Syndrome	43	13	10.2	Head and Neck (18%)	12
Trichothiodystrophy	27	13	10.2	Integument (26%)	5
Borjeson-Forssman-Lehmann syndrome	26	12	10.2	Nervous System (19%)	5
Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities	34	13	10.2	Musculoskeletal (24%)	12
Rocky Mountain spotted fever	25	12	10.1	Digestive (17%)	8
OTUD6B-Related Neurodevelopmental Disorder	34	15	10.1	Head and Neck (24%)	7
CLOVES Syndrome	35	13	10.1	Musculoskeletal (18%)	13
Eosinophilic granulomatosis with polyangiitis	25	12	10.1	Cardiovascular (18%)	9
8p Inverted Duplication Deletion Syndrome	54	14	10.1	Nervous System (25%)	8
Werner Syndrome	26	12	10.1	Neoplasm (19%)	6
Autosomal Agammaglobulinemia	31	16	10.0	Immune (31%)	17
Roberts Syndrome	43	15	10.0	Musculoskeletal (23%)	19
Glycogen Storage Disease Type IV	33	13	10.0	Digestive (20%)	6
Eosinophilia-Myalgia Syndrome	25	11	10.0	Nervous System (16%)	6
GM1 Gangliosidosis Type 1	19	12	10.0	Nervous System (20%)	4
Ritscher-Schinzel Syndrome	17	12	10.0	Nervous System (20%)	4
Tonne-Kalscheuer Syndrome	27	13	10.0	Musculoskeletal (19%)	8
Diphtheria	22	13	10.0	Nervous System (20%)	3
Combined immunodeficiency due to CD3gamma deficiency	48	16	9.9	Immune (32%)	29
Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome	26	12	9.9	Metabolism (19%)	5
Trichohepatoenteric Syndrome	15	11	9.9	Immune (17%)	1
X-linked Reticulate Pigmentary Disorder	22	13	9.9	Integument (26%)	7
Biotinidase Deficiency	28	13	9.9	Nervous System (25%)	6
ALG12-congenital disorder of glycosylation	16	11	9.9	Musculoskeletal (21%)	1
Fucosidosis	32	14	9.9	Musculoskeletal (24%)	6
Combined Oxidative Phosphorylation Deficiency 36	21	12	9.8	Metabolism (20%)	3
Cardiospondylocarpofacial syndrome	41	13	9.8	Musculoskeletal (19%)	7
Nijmegen Breakage Syndrome-like Disorder	28	12	9.8	Blood (18%)	9
Homocystinuria	40	13	9.8	Musculoskeletal (18%)	8
Biliary, Renal, Neurologic, and Skeletal Syndrome	25	11	9.8	Musculoskeletal (16%)	6
Beckwith-Wiedemann Syndrome	17	11	9.8	Digestive (15%)	10
RAPADILINO Syndrome	17	11	9.8	Musculoskeletal (19%)	7
Muscular Dystrophy, Congenital Hearing Loss, and Ovarian Insufficiency Syndrome	21	13	9.8	Musculoskeletal (30%)	2
PAICS Deficiency	11	10	9.7	Nervous System (18%)	0
Roifman-syndrome	10	10	9.7	Immune (18%)	1
HOIP Deficiency	26	13	9.7	Immune (22%)	10
Kyphoscoliotic Ehlers-Danlos Syndrome	24	12	9.7	Musculoskeletal (27%)	2
Dyskeratosis Congenita Autosomal Recessive 2	15	11	9.7	Blood (15%)	4
CD25 Deficiency	38	15	9.6	Immune (34%)	17
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome	23	12	9.6	Head and Neck (21%)	9
TFRC-related Combined Immunodeficiency	18	13	9.6	Blood (24%)	9
Hatipoglu Immunodeficiency Syndrome	25	12	9.6	Immune (25%)	6
Farber Disease	14	11	9.6	Musculoskeletal (24%)	2
Multisystem Inflammatory Syndrome in Children (MIS-C)	12	11	9.6	Cardiovascular (24%)	4
Hemochromatosis	19	11	9.6	Digestive (17%)	4
Townes-Brocks Syndrome 1	37	12	9.6	Genitourinary (23%)	6
Dyskeratosis Congenita Autosomal Recessive 6	15	11	9.6	Nervous System (21%)	3
Bone Fragility With Contractures Arterial Rupture And Deafness	41	12	9.6	Musculoskeletal (18%)	6
Bardet-Biedl syndrome	19	11	9.6	Eye (22%)	4
COG7-congenital disorder of glycosylation	20	11	9.6	Metabolism (21%)	3
Turner Syndrome	20	11	9.5	Cardiovascular (16%)	5
Pheochromocytoma and Paraganglioma	22	12	9.5	Nervous System (23%)	7
Sly syndrome	9	10	9.5	Cardiovascular (17%)	2
SOX11-Related Neurodevelopmental Disorder	32	12	9.5	Nervous System (26%)	6
Ataxia-telangiectasia	18	12	9.5	Nervous System (24%)	9
Microscopic Polyangiitis	24	11	9.5	Immune (18%)	7
Cernunnos-XLF deficiency	15	12	9.5	Blood (21%)	10
Cartilage-hair hypoplasia	32	13	9.5	Immune (23%)	15
Simpson-Golabi-Behmel Syndrome Type 1	18	12	9.5	Musculoskeletal (26%)	5
Berardinelli-Seip Congenital Lipodystrophy	46	12	9.4	Musculoskeletal (19%)	10
Maroteaux-Lamy syndrome	11	10	9.4	Cardiovascular (15%)	1
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, and Nephrocalcinosis	11	10	9.4	Genitourinary (15%)	2
Osteopetrosis	16	13	9.4	Musculoskeletal (31%)	7
Primary_Tonsillar_Lymphoma	8	10	9.4	Cardiovascular (15%)	5
Autosomal Dominant Hyper-IgE Syndrome	20	11	9.4	Immune (20%)	8
Loeys-Dietz Syndrome 4	27	12	9.4	Musculoskeletal (21%)	6
Pompe Disease	17	11	9.4	Musculoskeletal (24%)	4
CDK8-Related Disorder	70	14	9.4	Nervous System (23%)	12
Wolf-Hirschhorn_Syndrome	23	11	9.4	Nervous System (23%)	2
Polycythemia Vera	26	12	9.4	Blood (28%)	7
FAM111A-Related Skeletal Dysplasia	22	13	9.4	Musculoskeletal (28%)	8
Ulnar-Mammary Syndrome	20	10	9.3	Genitourinary (19%)	6
Fraser Syndrome	29	12	9.3	Head and Neck (29%)	6
Ablepharon-Macrostomia Syndrome	46	14	9.3	Head and Neck (24%)	12
Mosaic Variegated Aneuploidy Syndrome	25	12	9.3	Eye (17%)	7
PAX1-Related Otofaciocervical Syndrome	15	10	9.3	Head and Neck (16%)	3
Multiple Sulfatase Deficiency	31	13	9.3	Nervous System (22%)	7
Microcephalic Osteodysplastic Primordial Dwarfism Type II	23	11	9.3	Nervous System (20%)	6
AICA-ribosiduria	29	10	9.3	Musculoskeletal (16%)	2
Autoimmune Polyendocrine Syndrome Type 1	20	12	9.3	Endocrine (20%)	9
IKBKG ectodermal dysplasia with immunodeficiency	49	14	9.3	Immune (29%)	22
Neonatal Diabetes Mellitus With Congenital Hypothyroidism	25	11	9.3	Digestive (21%)	3
STAT5B Deficiency	26	12	9.3	Immune (27%)	15
Seizures-scoliosis-macrocephaly syndrome	62	16	9.3	Nervous System (28%)	12
Schaaf-Yang Syndrome	28	11	9.3	Musculoskeletal (19%)	4
Thymic Neuroendocrine Carcinoma	15	12	9.2	Neoplasm (24%)	7
Tangier_Disease	27	11	9.2	Cardiovascular (21%)	5
Musculocontractural Ehlers-Danlos Syndrome	40	12	9.2	Musculoskeletal (22%)	7
Loeys-Dietz Syndrome	38	13	9.2	Musculoskeletal (26%)	10
LIFR-Related Stuve-Wiedemann Syndrome	22	12	9.2	Musculoskeletal (32%)	3
Hantavirus Hemorrhagic Fever with Renal Syndrome	23	11	9.2	Blood (16%)	7
CODAS Syndrome	52	12	9.2	Musculoskeletal (19%)	10
RECON Progeroid Syndrome	32	13	9.2	Head and Neck (26%)	12
Adult-Onset Myasthenia Gravis	11	10	9.2	Musculoskeletal (17%)	4
Monkeypox	14	11	9.2	Immune (24%)	5
Hereditary Sensory and Autonomic Neuropathy Type 6	21	11	9.1	Nervous System (22%)	2
Johanson-Blizzard syndrome	13	10	9.1	Head and Neck (20%)	1
Diets-Jongmans Syndrome	30	12	9.1	Nervous System (26%)	7
PMM2-Congenital Disorder of Glycosylation	22	12	9.1	Nervous System (28%)	3
Yunis-Varon Syndrome	44	13	9.1	Musculoskeletal (24%)	16
Glycogen Storage Disease Due To Aldolase A Deficiency	10	10	9.1	Musculoskeletal (21%)	3
Chorioamnionitis	15	10	9.1	Cardiovascular (16%)	3
Lysinuric protein intolerance	16	10	9.1	Blood (16%)	2
CBL-related Disorder	9	10	9.1	Nervous System (23%)	2
Myiasis	18	10	9.1	Integument (22%)	8
Noonan Syndrome 11	25	11	9.1	Cardiovascular (19%)	4
Oculofaciocardiodental Syndrome	24	11	9.0	Head and Neck (20%)	5
Cushing Disease	14	10	9.0	Endocrine (18%)	2
Galactosialidosis	12	10	9.0	Cardiovascular (18%)	3
Eisenmenger Syndrome	17	11	9.0	Cardiovascular (26%)	6
Kearns-Sayre syndrome	19	11	9.0	Nervous System (26%)	4
Congenital Disorder of Glycosylation Type IIr	16	10	9.0	Digestive (18%)	3
Bannayan-Riley-Ruvalcaba Syndrome	28	12	9.0	Neoplasm (22%)	11
Alpha-mannosidosis	71	14	9.0	Musculoskeletal (24%)	15
Dermatomyositis	47	14	9.0	Integument (26%)	11
Say-Barber-Biesecker-Young-Simpson Syndrome	29	12	9.0	Musculoskeletal (21%)	5
Atransferrinemia	27	12	9.0	Cardiovascular (19%)	3
Focal Dermal Hypoplasia	25	12	9.0	Head and Neck (19%)	6
apparent mineralocorticoid excess	26	10	9.0	Genitourinary (20%)	4
Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3	40	12	9.0	Nervous System (24%)	6
MEGF8-related Carpenter Syndrome	18	11	9.0	Head and Neck (19%)	7
MSMO1 Deficiency	27	10	9.0	Eye (16%)	8
Autosomal Dominant Progressive External Ophthalmoplegia	23	12	8.9	Musculoskeletal (22%)	3
Heme Oxygenase 1 Deficiency	36	12	8.9	Metabolism (24%)	13
Sotos Syndrome	52	13	8.9	Nervous System (28%)	5
Behcet's Disease	24	12	8.9	Immune (22%)	8
Apert Syndrome	21	10	8.9	Musculoskeletal (18%)	6
Growth Restriction Hypoplastic Kidneys Alopecia And Distinctive Facies	13	10	8.9	Genitourinary (19%)	2
Brucellosis	20	11	8.9	Constitutional (21%)	6
Chromosome 18p Deletion Syndrome	13	11	8.9	Nervous System (28%)	3
Aspirin-Exacerbated Respiratory Disease	20	11	8.9	Respiratory (23%)	8
Emanuel Syndrome	15	10	8.9	Head and Neck (20%)	4
Type I Diabetes	16	10	8.9	Nervous System (20%)	4
HHV-8-Associated Multicentric Castleman Disease	13	10	8.9	Metabolism (24%)	3
Heavy Chain Disease	23	12	8.9	Digestive (20%)	9
COG1-congenital disorder of glycosylation	29	12	8.8	Musculoskeletal (29%)	5
Hepatitis C	14	11	8.8	Digestive (29%)	5
Short-rib thoracic dysplasia 21 without polydactyly	51	13	8.8	Musculoskeletal (29%)	13
Mitochondrial DNA Depletion Syndrome 14B (Cardioencephalomyopathic Type)	17	11	8.8	Musculoskeletal (24%)	3
Cystinosis	57	12	8.8	Metabolism (23%)	15
BRPF1-Related Intellectual Disability	71	14	8.8	Nervous System (24%)	11
Anauxetic dysplasia	25	13	8.8	Musculoskeletal (33%)	7
Thrombocytopenia 11 with Multiple Congenital Anomalies and Dysmorphic Facies	20	10	8.7	Blood (20%)	4
Bohring-Opitz syndrome	15	10	8.7	Nervous System (22%)	3
Menke-Hennekam Syndrome	46	13	8.7	Head and Neck (28%)	3
Barber-Say Syndrome	65	14	8.7	Head and Neck (34%)	12
Anaplastic Thyroid Carcinoma	11	10	8.7	Respiratory (25%)	5
Galactosemia	15	10	8.7	Nervous System (25%)	1
Graves' Disease	27	12	8.7	Nervous System (33%)	0
KBG Syndrome	23	12	8.7	Nervous System (25%)	5
Burkitt Lymphoma	6	9	8.7	Neoplasm (20%)	4
CHIME_syndrome	10	9	8.7	Nervous System (20%)	0
HPV-Negative Head and Neck Cancer	7	9	8.7	Digestive (20%)	3
Niemann-Pick Disease Type B	7	9	8.7	Growth (20%)	2
Schistosomiasis	6	9	8.7	Genitourinary (20%)	3
Cystic Fibrosis	26	11	8.7	Digestive (27%)	6
CTCF-related Neurodevelopmental Disorder	22	11	8.7	Nervous System (27%)	3
Ritscher-Schinzel Syndrome 1	47	13	8.7	Head and Neck (27%)	11
Fabry disease	24	10	8.7	Cardiovascular (25%)	6
6q16 Deletion Syndrome	46	12	8.7	Head and Neck (20%)	12
Cornelia de Lange Syndrome 4	15	10	8.7	Nervous System (21%)	3
FOXP1 Syndrome	46	13	8.7	Nervous System (34%)	6
Intellectual Developmental Disorder, X-Linked, Syndromic 37	34	11	8.7	Nervous System (26%)	4
FG Syndrome 1	56	11	8.6	Musculoskeletal (22%)	11
Shwachman-Diamond syndrome	18	10	8.6	Blood (20%)	6
Schnitzler Syndrome	13	10	8.6	Constitutional (20%)	5
Placental Abruption	12	10	8.6	Prenatal and Birth (27%)	3
COQ2-Related Primary Coenzyme Q10 Deficiency	22	10	8.6	Genitourinary (17%)	2
Combined Oxidative Phosphorylation Defect Type 37	13	10	8.6	Nervous System (24%)	3
Systemic Mastocytosis	12	10	8.6	Digestive (24%)	4
Crohn Disease	26	12	8.6	Digestive (29%)	10
Rheumatoid Arthritis	30	12	8.6	Musculoskeletal (28%)	8
Cri-du-Chat Syndrome	34	12	8.6	Nervous System (26%)	3
Scorpion Envenomation	19	10	8.6	Cardiovascular (24%)	2
Infantile-Onset Pompe Disease	20	11	8.6	Musculoskeletal (22%)	3
CAGSSS Syndrome	34	13	8.6	Musculoskeletal (27%)	8
Congenital Heart Defects and Skeletal Malformations Syndrome	32	12	8.6	Musculoskeletal (30%)	7
SNIP1-Related Neurodevelopmental Disorder	53	13	8.6	Nervous System (23%)	11
Trisomy 13	9	9	8.5	Cardiovascular (18%)	2
Van Maldergem Syndrome	20	10	8.5	Musculoskeletal (25%)	4
Morgagni-Stewart-Morel Syndrome	12	10	8.5	Nervous System (29%)	2
Babesiosis	25	10	8.5	Digestive (22%)	5
ZNF407-Related Neurodevelopmental Disorder	35	12	8.5	Musculoskeletal (22%)	12
Hurler syndrome	16	10	8.5	Musculoskeletal (26%)	6
Chromosome Xq Duplication	32	14	8.5	Nervous System (39%)	8
STAT6 Gain-of-Function Disease	15	13	8.5	Immune (38%)	9
Sialuria	11	9	8.5	Digestive (15%)	2
Stevens-Johnson Syndrome	10	9	8.5	Constitutional (15%)	1
Cardiac, Facial, and Digital Anomalies with Developmental Delay	66	11	8.5	Musculoskeletal (25%)	11
Israeli Tick Typhus	11	9	8.5	Blood (17%)	1
Methylmalonic Acidemia With Homocystinuria, Type cblJ	9	9	8.5	Genitourinary (17%)	3
Relapsing Fever	10	9	8.5	Blood (17%)	2
Alsahan-Harris Syndrome	15	10	8.5	Head and Neck (20%)	4
Alstrom Syndrome	17	10	8.5	Eye (20%)	3
MERRF Syndrome	23	12	8.5	Nervous System (35%)	3
ZTTK syndrome	23	11	8.5	Genitourinary (22%)	0
FILS Syndrome	10	9	8.4	Musculoskeletal (19%)	6
Immunodeficiency 120	15	12	8.4	Immune (33%)	9
Peroxisome Biogenesis Disorder 1B	14	10	8.4	Nervous System (25%)	2
Peroxisome Biogenesis Disorder 2B	14	10	8.4	Nervous System (25%)	2
Saul-Wilson Syndrome	14	10	8.4	Musculoskeletal (25%)	2
CHILD Syndrome	20	11	8.4	Musculoskeletal (28%)	5
Sheehan Syndrome	21	12	8.4	Metabolism (28%)	5
Garg-Mishra Progeroid Syndrome	38	11	8.4	Musculoskeletal (29%)	10
Acute Radiation Syndrome	27	10	8.4	Blood (21%)	6
Peroxisome Biogenesis Disorder 12A (Zellweger)	29	10	8.4	Nervous System (19%)	2
Bailey-Bloch Congenital Myopathy	57	14	8.4	Head and Neck (25%)	10
Chopra-Amiel-Gordon Syndrome	49	13	8.4	Nervous System (30%)	10
STT3A-Congenital Disorder of Glycosylation	40	11	8.4	Musculoskeletal (22%)	5
Nail-patella Syndrome	19	10	8.4	Musculoskeletal (21%)	5
Primrose Syndrome	24	11	8.4	Nervous System (25%)	4
Beta Thalassemia	18	11	8.4	Blood (29%)	5
ALG3-congenital disorder of glycosylation	17	10	8.4	Nervous System (25%)	2
Basel-Vanagaite-Smirin-Yosef Syndrome	80	12	8.4	Nervous System (24%)	16
COQ6-Related Steroid-Resistant Nephrotic Syndrome with Sensorineural Deafness	20	10	8.4	Metabolism (22%)	3
Severe Combined Immunodeficiency	28	14	8.3	Immune (38%)	13
Scrub typhus	25	10	8.3	Digestive (21%)	8
3p- Syndrome	44	12	8.3	Head and Neck (30%)	9
CTLA4 Haploinsufficiency	36	13	8.3	Immune (31%)	19
Amniotic Band Syndrome	29	10	8.3	Limbs (18%)	8
Ichthyosiform Erythroderma, Corneal Involvement, and Hearing Loss	20	10	8.3	Immune (19%)	6
Short Stature, Microcephaly, and Endocrine Dysfunction	10	9	8.3	Metabolism (20%)	4
Systemic AL Amyloidosis	13	9	8.3	Digestive (20%)	2
Chung-Jansen Syndrome	34	12	8.3	Nervous System (32%)	6
Arboleda-Tham Syndrome	32	10	8.3	Nervous System (25%)	3
Black Widow Spider Envenomation	16	9	8.3	Cardiovascular (20%)	4
RFT1-congenital disorder of glycosylation	19	10	8.3	Nervous System (29%)	1
Microcephalic Osteodysplastic Primordial Dwarfism Type I	17	11	8.3	Nervous System (35%)	3
Choriocarcinoma	12	9	8.2	Neoplasm (17%)	5
COG8-congenital disorder of glycosylation	32	11	8.2	Nervous System (26%)	10
Snyder-Robinson Syndrome	25	11	8.2	Musculoskeletal (27%)	1
Ulcerative Colitis	14	10	8.2	Digestive (23%)	7
Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency	10	9	8.2	Blood (21%)	3
Peroxisome Biogenesis Disorder	14	9	8.2	Nervous System (21%)	0
Wolcott-Rallison Syndrome	12	9	8.2	Musculoskeletal (21%)	2
Marfanoid-Progeroid-Lipodystrophy Syndrome	26	11	8.2	Head and Neck (25%)	6
Inherited Aplastic Anemia	14	10	8.2	Blood (28%)	4
Revesz Syndrome	15	10	8.2	Nervous System (28%)	2
Neurodevelopmental Disorder with Hypotonia, Feeding Difficulties, Facial Dysmorphism, and Brain Abnormalities	28	10	8.2	Nervous System (26%)	3
Systemic Sclerosis	20	11	8.2	Integument (32%)	5
Ataxia-Telangiectasia-Like Disorder 2	17	11	8.2	Nervous System (29%)	5
Dystrophic Epidermolysis Bullosa	15	10	8.2	Integument (26%)	4
Holoprosencephaly 9	25	11	8.2	Endocrine (23%)	6
Colchicine Poisoning	15	10	8.2	Blood (24%)	2
Primary Hypertrophic Osteoarthropathy	12	10	8.2	Integument (24%)	5
Gorlin Syndrome	29	10	8.2	Musculoskeletal (23%)	14
Baraitser-Winter Cerebrofrontofacial Syndrome	73	11	8.2	Head and Neck (27%)	12
Addison's Disease	12	9	8.2	Metabolism (23%)	1
Familial Cold Autoinflammatory Syndrome	8	9	8.2	Metabolism (23%)	3
Lichen Myxedematosus	9	9	8.2	Integument (23%)	2
Mitochondrial Trifunctional Protein Deficiency	13	9	8.2	Musculoskeletal (23%)	0
Auroneurodental Syndrome	34	11	8.1	Head and Neck (26%)	5
COX4I2-Related Pancreatic Insufficiency-Anemia-Hyperostosis Syndrome	25	11	8.1	Digestive (26%)	5
Geleophysic Dysplasia	25	10	8.1	Musculoskeletal (26%)	7
Zimmermann-Laband Syndrome	48	13	8.1	Head and Neck (31%)	12
B4GALT1-Congenital Disorder of Glycosylation	18	10	8.1	Nervous System (29%)	4
Intellectual Disability X-linked Syndromic 35	26	11	8.1	Nervous System (33%)	2
Hypotonia-cystinuria syndrome	15	9	8.1	Growth (18%)	2
CEDNIK Syndrome	42	13	8.1	Nervous System (34%)	7
Cutis Laxa Autosomal Recessive Type 2E	42	11	8.1	Head and Neck (26%)	12
Riley-Day Syndrome	19	10	8.1	Nervous System (29%)	2
Proteus syndrome	25	10	8.0	Eye (24%)	4
Facioscapulohumeral Muscular Dystrophy	22	10	8.0	Musculoskeletal (29%)	5
Mucous Membrane Pemphigoid	22	11	8.0	Head and Neck (32%)	5
ALG6-congenital disorder of glycosylation	28	12	8.0	Nervous System (38%)	3
Attenuated Mucopolysaccharidosis Type I	30	11	8.0	Musculoskeletal (26%)	4
DHRSX-Congenital Disorder of Glycosylation	15	9	8.0	Musculoskeletal (20%)	0
Blepharophimosis-Intellectual Disability Syndrome, MKB Type	34	10	8.0	Head and Neck (25%)	5
Wiedemann-Rautenstrauch Syndrome	48	13	8.0	Head and Neck (28%)	11
VEXAS Syndrome	12	10	8.0	Blood (26%)	5
X-linked Agammaglobulinemia	18	12	8.0	Immune (35%)	13
Lethal Polymalformative Syndrome, Boissel Type	29	11	8.0	Musculoskeletal (20%)	8
ALG1-congenital disorder of glycosylation	17	9	8.0	Nervous System (25%)	2
Autosomal Dominant Cutis Laxa 1	27	10	8.0	Cardiovascular (27%)	3
Idiopathic Multicentric Castleman Disease	22	10	8.0	Metabolism (27%)	5
A20 Haploinsufficiency	6	8	8.0	Constitutional (12%)	2
Leishmaniasis	6	8	8.0	Blood (12%)	1
Mitochondrial Complex I Deficiency, Nuclear Type 15	14	10	8.0	Metabolism (25%)	2
Microcephaly, Short Stature, and Impaired Glucose Metabolism 1	25	9	8.0	Nervous System (24%)	8
3-methylglutaconic_Aciduria_With_Deafness_Encephalopathy_And_Leigh-like_Syndrome	33	12	8.0	Nervous System (33%)	5
Bachmann-Bupp Syndrome	51	11	8.0	Nervous System (26%)	7
Fibrous Dysplasia	36	14	8.0	Musculoskeletal (41%)	13
3MC Syndrome	40	11	8.0	Musculoskeletal (25%)	12
MRPL44 Deficiency	32	10	8.0	Nervous System (24%)	2
Classical-like Ehlers-Danlos Syndrome	20	11	7.9	Integument (30%)	2
Syphilis	21	10	7.9	Immune (29%)	9
COX15-Related COX Deficiency	33	12	7.9	Nervous System (34%)	6
Antisynthetase Syndrome	12	9	7.9	Musculoskeletal (21%)	2
Dyskeratosis Congenita	12	9	7.9	Blood (21%)	2
HELLP Syndrome	22	10	7.9	Metabolism (29%)	2
Postinfectious Vasculitis	11	9	7.9	Cardiovascular (24%)	5
22q11.2 Deletion Syndrome	14	9	7.9	Head and Neck (19%)	1
Deeah Syndrome	19	10	7.9	Nervous System (33%)	2
Chromosome 17q12 Deletion Syndrome	21	10	7.9	Nervous System (26%)	2
PTEN Hamartoma Tumor Syndrome	15	11	7.9	Neoplasm (38%)	9
AA Amyloidosis	19	11	7.9	Digestive (31%)	5
Rothmund-Thomson Syndrome	17	10	7.9	Integument (28%)	8
Myopathy, Lactic Acidosis, and Sideroblastic Anemia	22	12	7.9	Musculoskeletal (33%)	4
Cadmium Poisoning	12	9	7.9	Genitourinary (22%)	6
EVEN-PLUS Syndrome	16	9	7.9	Nervous System (22%)	2
Multiple Mitochondrial Dysfunctions Syndrome 2	15	9	7.9	Metabolism (22%)	3
Propionic Acidemia	17	10	7.9	Nervous System (33%)	1
TNF Receptor-Associated Periodic Syndrome	10	9	7.9	Metabolism (22%)	6
Peroxisome Biogenesis Disorder 4B	13	9	7.9	Nervous System (27%)	2
Immunodeficiency 49	29	12	7.9	Immune (24%)	14
Tuberous Sclerosis Complex	38	12	7.8	Nervous System (29%)	12
Adult Refsum Disease	18	9	7.8	Eye (24%)	3
Hand Foot and Mouth Disease	17	9	7.8	Nervous System (24%)	4
Growth Hormone Insensitivity Syndrome	11	9	7.8	Immune (28%)	5
Lymphatic malformation 6	12	9	7.8	Metabolism (28%)	5
Aspartylglucosaminuria	41	12	7.8	Musculoskeletal (29%)	10
Autosomal Recessive Cutis Laxa Type 2A	19	10	7.8	Musculoskeletal (24%)	5
Langerhans Cell Histiocytosis	9	9	7.8	Digestive (23%)	3
Nicolaides-Baraitser Syndrome	30	12	7.8	Head and Neck (24%)	7
Rabson-Mendenhall Syndrome	21	10	7.8	Metabolism (23%)	5
Wiskott-Aldrich syndrome	29	12	7.8	Blood (30%)	16
RAB23-related Carpenter Syndrome	17	10	7.8	Musculoskeletal (26%)	6
THOC2-Related Intellectual Disability	27	11	7.8	Nervous System (33%)	2
Immunodeficiency 96	18	12	7.8	Blood (29%)	11
SPOP-Related Neurodevelopmental Disorder	63	13	7.8	Head and Neck (28%)	11
Hereditary Angioedema	19	10	7.8	Metabolism (32%)	11
Mitochondrial DNA Depletion Syndrome, Myopathic Form	22	11	7.7	Musculoskeletal (26%)	6
Actinomycosis	12	9	7.7	Respiratory (25%)	4
Adenosine Kinase Deficiency	15	9	7.7	Nervous System (25%)	1
Autoimmune Hemolytic Anemia	12	9	7.7	Blood (25%)	3
Familial hyperaldosteronism type I	12	9	7.7	Endocrine (25%)	3
Muckle-Wells Syndrome	10	9	7.7	Metabolism (25%)	4
Renal Tubular Acidosis Distal 4 with Hemolytic Anemia	12	9	7.7	Metabolism (25%)	3
Typhoidal Tularemia	12	9	7.7	Immune (25%)	3
ZNF341 Deficiency	29	11	7.7	Immune (33%)	15
Primary_Ciliary_Dyskinesia	30	11	7.7	Respiratory (31%)	8
Chromosome 18q Deletion Syndrome	14	9	7.7	Nervous System (29%)	0
Combined Oxidative Phosphorylation Defect Type 4	12	9	7.7	Nervous System (29%)	1
Ethylmalonic Encephalopathy	10	9	7.7	Nervous System (29%)	3
Stankiewicz-Isidor syndrome	12	9	7.7	Nervous System (29%)	2
Isolated Growth Hormone Deficiency	7	8	7.7	Endocrine (22%)	2
Linear Skin Defects with Multiple Congenital Anomalies 1	16	9	7.7	Eye (22%)	1
Unicentric Castleman Disease	8	8	7.7	Growth (22%)	1
Chuvash Polycythemia	15	10	7.7	Cardiovascular (30%)	4
IgG4-Related Disease	13	9	7.7	Digestive (21%)	6
Immunodeficiency 82 With Systemic Inflammation	15	10	7.7	Immune (27%)	6
Acrofacial Dysostosis Cincinnati Type	45	10	7.7	Musculoskeletal (25%)	15
COPA Syndrome	22	11	7.7	Respiratory (30%)	4
Cornelia de Lange Syndrome 5	20	10	7.7	Head and Neck (30%)	3
Hydrops-Lactic Acidosis-Sideroblastic Anemia-Multisystemic Failure Syndrome	14	8	7.7	Genitourinary (18%)	3
Methotrexate Toxicity	16	9	7.7	Blood (24%)	1
Periodontal Ehlers-Danlos Syndrome	13	9	7.7	Cardiovascular (24%)	3
Joubert syndrome	43	10	7.7	Nervous System (31%)	8
Hereditary Spherocytosis	28	10	7.7	Blood (30%)	4
Diethylene Glycol Poisoning	17	10	7.7	Nervous System (33%)	5
Hypermobile Ehlers-Danlos Syndrome	29	9	7.7	Nervous System (21%)	3
Takayasu Arteritis	52	14	7.6	Cardiovascular (40%)	5
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	41	13	7.6	Nervous System (33%)	6
Myotonic Dystrophy Type 1	11	9	7.6	Nervous System (31%)	2
Ogden syndrome	13	9	7.6	Nervous System (31%)	0
Tyrosinemia Type I	16	10	7.6	Digestive (32%)	3
Keutel Syndrome	14	9	7.6	Musculoskeletal (25%)	6
Juvenile Sialidosis Type 2	14	9	7.6	Nervous System (28%)	2
Botulism	20	9	7.6	Digestive (22%)	3
Immunodeficiency 11B with Atopic Dermatitis	25	12	7.6	Immune (39%)	16
STIM1 Deficiency	15	10	7.6	Immune (35%)	7
Developmental and Epileptic Encephalopathy 89	60	13	7.6	Nervous System (37%)	12
Junctional Epidermolysis Bullosa	12	9	7.6	Integument (27%)	2
Majeed Syndrome	9	9	7.6	Musculoskeletal (27%)	5
Mucopolysaccharidosis	8	8	7.6	Cardiovascular (20%)	1
Niemann-Pick Disease Type A	6	8	7.6	Cardiovascular (20%)	2
Trisomy 18	8	8	7.6	Musculoskeletal (20%)	2
Wilms Tumor	7	8	7.6	Digestive (20%)	3
Ovarian Hyperstimulation Syndrome	20	9	7.6	Digestive (23%)	2
African Tick-Bite Fever	10	8	7.6	Cardiovascular (17%)	2
Flinders Island Spotted Fever	10	8	7.6	Constitutional (17%)	2
Opitz G/BBB syndrome	11	8	7.6	Digestive (17%)	1
Triglyceride Storage Disease Type 1	9	9	7.6	Digestive (33%)	2
Neurofibromatosis Type 1	16	10	7.6	Neoplasm (28%)	9
SHORT Syndrome	29	10	7.5	Eye (23%)	6
Far Eastern Spotted Fever	9	8	7.5	Immune (18%)	2
IgA Vasculitis	6	8	7.5	Cardiovascular (18%)	4
Legionnaires Disease	10	8	7.5	Metabolism (18%)	1
Natural Killer Cell and Glucocorticoid Deficiency with DNA Repair Defect	8	8	7.5	Blood (18%)	3
DPM2-congenital disorder of glycosylation	32	11	7.5	Nervous System (31%)	2
Stromme Syndrome	27	10	7.5	Head and Neck (27%)	2
Alpha Thalassemia	12	9	7.5	Blood (24%)	4
Inborn Disorder of Methionine Cycle and Sulfur Amino Acid Metabolism	20	11	7.5	Nervous System (30%)	3
Lateral Meningocele Syndrome	33	11	7.5	Musculoskeletal (30%)	4
Alkaptonuria	30	11	7.5	Musculoskeletal (36%)	9
Coccidioidomycosis	14	9	7.5	Constitutional (22%)	4
USP9X Female-Restricted Syndromic Intellectual Disability	35	11	7.5	Nervous System (29%)	5
Gamma-Glutamylcysteine Synthetase Deficiency	11	9	7.5	Nervous System (31%)	4
Measles	9	9	7.5	Immune (31%)	5
Oculopharyngeal Muscular Dystrophy	12	9	7.5	Musculoskeletal (31%)	4
VPS51-Related Pontocerebellar Hypoplasia-CDG	12	9	7.5	Nervous System (31%)	3
Autoimmune Autonomic Ganglionopathy	11	8	7.4	Nervous System (21%)	3
Congenital Disorder of Glycosylation, Type IIw	18	10	7.4	Blood (32%)	4
Neurofibromatosis-Noonan Syndrome	12	8	7.4	Head and Neck (18%)	3
Andersen-Tawil Syndrome	22	10	7.4	Cardiovascular (30%)	5
Immunodeficiency 122	18	12	7.4	Immune (37%)	11
MELAS Syndrome	40	12	7.4	Nervous System (36%)	4
Activated PI3K-delta syndrome	11	10	7.4	Immune (33%)	7
Acute Tricyclic Antidepressant Poisoning	33	12	7.4	Cardiovascular (30%)	3
Acute Intermittent Porphyria	21	8	7.4	Metabolism (18%)	7
S-Adenosylhomocysteine Hydrolase Deficiency	38	12	7.3	Nervous System (36%)	3
Streptococcal Pharyngitis	9	9	7.3	Immune (25%)	5
Combined Oxidative Phosphorylation Deficiency 28	10	8	7.3	Metabolism (23%)	3
Green Tobacco Sickness	12	8	7.3	Digestive (23%)	1
Long-chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency	11	8	7.3	Metabolism (23%)	2
Myxedema	12	8	7.3	Cardiovascular (23%)	1
Peroxisome Biogenesis Disorder 3A (Zellweger)	13	8	7.3	Nervous System (23%)	0
Blastic Plasmacytoid Dendritic Cell Neoplasm	11	8	7.3	Blood (20%)	3
IL6ST-Related Stuve-Wiedemann Syndrome	12	10	7.3	Musculoskeletal (40%)	3
Opioid Use Disorder	19	9	7.3	Nervous System (30%)	1
Neurodevelopmental Disorder with Dysmorphic Facies and Distal Skeletal Anomalies	35	10	7.3	Nervous System (32%)	4
Far-East Scarlet-Like Fever	12	8	7.3	Digestive (24%)	3
Sweet Syndrome	11	8	7.3	Immune (24%)	4
Oculopharyngodistal Myopathy	11	9	7.3	Musculoskeletal (33%)	4
Agnathia-Otocephaly Complex	16	9	7.3	Head and Neck (32%)	3
GAPO Syndrome	28	11	7.3	Head and Neck (35%)	9
Pyruvate Dehydrogenase Deficiency	55	12	7.3	Nervous System (35%)	7
Mitochondrial DNA Depletion Syndrome 3 (Hepatocerebral Type)	26	11	7.3	Digestive (30%)	4
Mantle Cell Lymphoma	12	8	7.3	Blood (22%)	5
Microcephaly-Capillary Malformation Syndrome	29	12	7.3	Nervous System (41%)	4
LETM1-Related Childhood-Onset Neurodegeneration	37	12	7.3	Nervous System (37%)	5
Alpha-gal Syndrome	9	8	7.3	Digestive (19%)	4
Autosomal dominant polycystic liver disease	23	11	7.2	Digestive (39%)	7
Filippi Syndrome	23	8	7.2	Head and Neck (21%)	4
Autosomal Recessive Osteopetrosis 3	29	9	7.2	Head and Neck (24%)	4
Noonan Syndrome with Multiple Lentigines	12	8	7.2	Cardiovascular (25%)	0
Peroxisome Biogenesis Disorder 4A (Zellweger)	12	8	7.2	Nervous System (25%)	0
Preeclampsia	10	8	7.2	Metabolism (25%)	2
Reynolds Syndrome	10	8	7.2	Integument (25%)	2
Satoyoshi Syndrome	10	8	7.2	Digestive (25%)	2
Whipple Disease	10	8	7.2	Digestive (25%)	2
Rheumatoid Vasculitis	12	9	7.2	Cardiovascular (31%)	3
Anthrax	13	8	7.2	Digestive (18%)	4
THOC6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	33	10	7.2	Head and Neck (30%)	3
Keratitis-Ichthyosis-Deafness Syndrome	16	10	7.2	Integument (30%)	8
Becker Muscular Dystrophy	23	10	7.2	Musculoskeletal (34%)	6
Dorfman-Chanarin Disease	7	8	7.2	Digestive (30%)	2
Glycoprotein Storage Disease	7	8	7.2	Nervous System (30%)	2
Nephronophthisis	10	8	7.2	Genitourinary (30%)	0
Polymyositis	19	8	7.2	Musculoskeletal (20%)	1
Adams-Oliver Syndrome	9	8	7.2	Integument (27%)	2
Epidermolysis Bullosa	10	8	7.2	Integument (27%)	1
WAGR Syndrome	36	10	7.2	Nervous System (24%)	5
Pelger-Huet-like Anomaly and Episodic Fever with Abdominal Pain	18	10	7.2	Immune (28%)	9
Acquired Partial Lipodystrophy	15	9	7.2	Musculoskeletal (25%)	5
Spondyloenchondrodysplasia	14	9	7.2	Immune (25%)	6
Sweeney-Cox Syndrome	52	12	7.2	Head and Neck (35%)	15
Juvenile Idiopathic Arthritis	35	11	7.2	Musculoskeletal (34%)	11
Noonan Syndrome-like Disorder with Loose Anagen Hair	13	9	7.2	Integument (27%)	2
TARP syndrome	14	8	7.2	Head and Neck (27%)	1
Arthrochalasia Ehlers-Danlos Syndrome	39	11	7.2	Musculoskeletal (34%)	10
Coffin-Siris syndrome	20	10	7.2	Nervous System (35%)	2
MPI-congenital disorder of glycosylation	30	10	7.1	Digestive (30%)	8
Paraquat Poisoning	15	8	7.1	Digestive (22%)	3
Gastroenteropancreatic Neuroendocrine Neoplasm	9	9	7.1	Digestive (36%)	3
Combined Immunodeficiency Due To DOCK8 Deficiency	23	11	7.1	Immune (37%)	17
Auriculocondylar Syndrome	31	10	7.1	Head and Neck (33%)	7
Acute Lichenoid Pityriasis	21	10	7.1	Integument (35%)	4
Peroxisome Biogenesis Disorder 11A (Zellweger)	20	10	7.1	Nervous System (38%)	1
Spondyloepimetaphyseal Dysplasia Sponastrime Type	17	10	7.1	Musculoskeletal (36%)	6
Immunodeficiency 91 and Hyperinflammation	20	9	7.1	Blood (26%)	6
Human Monocytic Ehrlichiosis	16	9	7.1	Immune (27%)	6
Hantavirus Pulmonary Syndrome	16	8	7.1	Respiratory (25%)	4
Gitelman syndrome	14	8	7.1	Metabolism (25%)	2
COQ4-Related Neonatal Encephalomyopathy	23	10	7.1	Nervous System (38%)	2
Immunodeficiency 85 and Autoimmunity	11	9	7.1	Immune (32%)	6
Mandibulofacial dysostosis with microcephaly	19	9	7.1	Head and Neck (24%)	5
ALG9-congenital disorder of glycosylation	17	10	7.1	Nervous System (36%)	3
Ciguatera Fish Poisoning	21	9	7.1	Nervous System (26%)	2
Late-Onset Pompe Disease	18	8	7.1	Musculoskeletal (22%)	5
Pulmonary Alveolar Proteinosis With Hypogammaglobulinemia	13	9	7.1	Immune (30%)	7
Estrogen Resistance Syndrome	15	8	7.1	Endocrine (26%)	4
PRMT7-Related Short Stature-Brachydactyly Syndrome	19	9	7.1	Head and Neck (29%)	4
Congenital Dyserythropoietic Anemia	17	10	7.0	Blood (30%)	5
Hereditary Sensory and Autonomic Neuropathy Type 1A	14	9	7.0	Nervous System (29%)	2
Mullegama-Klein-Martinez Syndrome	26	9	7.0	Nervous System (33%)	3
ADNP-Related Syndrome	23	10	7.0	Nervous System (39%)	0
PET100-Related COX Deficiency	16	9	7.0	Metabolism (26%)	2
Bartter syndrome	19	9	7.0	Metabolism (29%)	2
RYR1-Related Myopathy	16	10	7.0	Musculoskeletal (41%)	1
Thanatophoric Dysplasia Type 2	22	9	7.0	Musculoskeletal (33%)	7
Autosomal Dominant Robinow Syndrome 3	63	11	7.0	Head and Neck (33%)	15
X-Linked Combined Immunodeficiency	17	11	7.0	Immune (39%)	12
COFS Syndrome	16	9	7.0	Nervous System (30%)	3
Weaver Syndrome	16	9	7.0	Musculoskeletal (30%)	4
Transketolase Deficiency	6	7	7.0	Cardiovascular (14%)	1
ALDH18A1-Related Spastic Paraplegia and Neurocutaneous Spectrum	19	9	7.0	Nervous System (28%)	5
Hereditary Hemorrhagic Telangiectasia	16	9	7.0	Cardiovascular (32%)	11
Marfan Syndrome	26	9	7.0	Cardiovascular (31%)	3
CARMIL2 Deficiency	36	11	7.0	Immune (38%)	23
Allan-Herndon-Dudley Syndrome	26	10	7.0	Nervous System (33%)	4
2q37 Microdeletion Syndrome	17	9	7.0	Nervous System (32%)	2
Von Hippel-Lindau Disease	8	9	7.0	Neoplasm (32%)	6
Congenital Disorder of Glycosylation, Type ICC	20	11	7.0	Immune (32%)	12
Aromatase Deficiency	25	9	7.0	Genitourinary (29%)	6
Budd-Chiari Syndrome	18	11	7.0	Digestive (41%)	7
ARPC1B Deficiency	15	10	7.0	Immune (37%)	8
Zellweger Spectrum Disorders	18	8	6.9	Nervous System (26%)	1
Holoprosencephaly 12 With or Without Pancreatic Agenesis	15	8	6.9	Digestive (24%)	2
Melioidosis	12	9	6.9	Immune (37%)	6
Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 2	11	8	6.9	Genitourinary (25%)	1
Proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome	10	8	6.9	Metabolism (25%)	2
Triosephosphate Isomerase Deficiency	11	8	6.9	Musculoskeletal (25%)	1
BPTF-Related Neurodevelopmental Disorder	44	9	6.9	Head and Neck (23%)	10
Costello Syndrome	17	8	6.9	Integument (24%)	4
Dermoid Cyst	11	8	6.9	Nervous System (27%)	4
Methylmalonic Acidemia	19	9	6.9	Nervous System (33%)	2
Spondylodysplastic Ehlers-Danlos Syndrome	20	8	6.9	Musculoskeletal (26%)	3
Hypophosphatasia	20	9	6.9	Musculoskeletal (36%)	2
Avoidant Restrictive Food Intake Disorder	13	8	6.9	Digestive (21%)	1
VPS4A-Related Neurodevelopmental Syndrome	24	10	6.9	Nervous System (39%)	4
Hyper-IgM Syndrome Type 1	13	9	6.9	Immune (31%)	7
Resistance to Thyroid Hormone Alpha	22	9	6.9	Head and Neck (22%)	5
Chronic Beryllium Disease	12	9	6.9	Respiratory (38%)	3
Lipoid Proteinosis	13	8	6.9	Nervous System (25%)	2
Menkes Disease	13	8	6.9	Nervous System (25%)	2
Plague	10	8	6.9	Immune (25%)	4
Amatoxin Poisoning	18	9	6.9	Digestive (29%)	3
Primary Ciliary Dyskinesia 9	12	9	6.9	Respiratory (35%)	3
Visceral Heterotaxy 9	13	8	6.9	Genitourinary (24%)	3
Chromosome 1p36 Deletion Syndrome	13	8	6.9	Nervous System (31%)	0
Inborn Disorder of Bile Acid Synthesis	11	8	6.9	Digestive (31%)	2
Kikuchi-Fujimoto Disease	8	8	6.9	Immune (31%)	4
MTHFD1 Deficiency	12	8	6.9	Immune (31%)	1
Undifferentiated Connective Tissue Syndrome	9	8	6.9	Immune (31%)	2
Carnitine-acylcarnitine Translocase Deficiency	20	8	6.9	Metabolism (27%)	2
Adult-Onset Still Disease	10	8	6.8	Immune (31%)	5
Diabetes mellitus	18	8	6.8	Metabolism (26%)	5
Congenital Diaphragmatic Hernia	21	9	6.8	Musculoskeletal (27%)	1
FGFR1-Related Hypogonadotropic Hypogonadism	13	8	6.8	Genitourinary (29%)	4
Wissler syndrome	12	8	6.8	Cardiovascular (29%)	5
Immunodeficiency 37	16	11	6.8	Immune (42%)	10
Craniofacial Microsomia	20	9	6.8	Head and Neck (33%)	6
Ebola Virus Disease (EVD)	17	8	6.8	Digestive (25%)	3
RNASEH1-Related Progressive External Ophthalmoplegia	17	9	6.8	Nervous System (32%)	4
Weiss-Kruszka Syndrome	17	9	6.8	Head and Neck (35%)	3
BMP2-Related Short Stature-Facial Dysmorphism-Skeletal Anomalies Syndrome	53	11	6.8	Head and Neck (30%)	7
Hemophilia B	18	10	6.8	Blood (40%)	8
Deficiency of the Interleukin-1 Receptor Antagonist	15	8	6.8	Musculoskeletal (26%)	4
Feingold Syndrome	12	8	6.8	Musculoskeletal (26%)	6
Mixed Phenotype Acute Leukemia	14	9	6.8	Blood (29%)	7
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	14	8	6.7	Metabolism (29%)	0
Cryoglobulinemic Vasculitis	10	8	6.7	Cardiovascular (29%)	3
G6PC3 Deficiency	10	8	6.7	Cardiovascular (29%)	4
Klinefelter Syndrome	13	8	6.7	Genitourinary (29%)	1
Murine typhus	23	8	6.7	Metabolism (29%)	5
Immunodeficiency 18	9	9	6.7	Immune (37%)	5
PRPS1 Deficiency Spectrum	17	9	6.7	Nervous System (37%)	2
Vein of Galen malformation	11	9	6.7	Cardiovascular (33%)	5
ZAP70 Deficiency	18	10	6.7	Immune (40%)	10
COA8-Related COX Deficiency	11	8	6.7	Nervous System (33%)	1
Intellectual Developmental Disorder, Autosomal Dominant 72	28	10	6.7	Nervous System (31%)	6
Medullary Thyroid Carcinoma	7	8	6.7	Endocrine (33%)	4
Mitochondrial Complex I Deficiency Nuclear Type 31	11	8	6.7	Nervous System (33%)	1
Adrenal Cortex Adenoma	18	9	6.7	Cardiovascular (30%)	4
Erdheim-Chester Disease	7	7	6.7	Constitutional (25%)	1
HPV-Positive Head and Neck Cancer	6	7	6.7	Digestive (25%)	2
Hereditary Congenital Facial Paresis 3	6	7	6.7	Ear (25%)	1
Hunter syndrome	13	8	6.7	Musculoskeletal (25%)	2
Kidney Sarcoma	5	7	6.7	Genitourinary (25%)	3
Laryngeal Squamous Cell Carcinoma	6	7	6.7	Respiratory (25%)	2
MMACHC-related Methylmalonic Aciduria and Homocystinuria, cblC Type	6	7	6.7	Nervous System (25%)	2
Meckel Syndrome	5	7	6.7	Musculoskeletal (25%)	2
Mitochondrial Complex I Deficiency, Nuclear Type 33	19	10	6.7	Nervous System (36%)	3
Neuroblastoma	7	7	6.7	Digestive (25%)	1
Bulimia Nervosa	24	9	6.7	Metabolism (27%)	5
Sifrim-Hitz-Weiss syndrome	15	8	6.7	Musculoskeletal (24%)	2
X-linked Hypohidrotic Ectodermal Dysplasia	12	8	6.7	Head and Neck (24%)	3
Methylmalonic Aciduria, cblA Type	41	9	6.7	Nervous System (32%)	3
Deficiency of Adenosine Deaminase 2	16	9	6.7	Blood (25%)	8
COX6B1-Related COX Deficiency	19	8	6.7	Nervous System (30%)	1
Lenz-Majewski hyperostotic dwarfism	16	8	6.7	Head and Neck (25%)	4
Marshall-Smith Syndrome	19	8	6.7	Head and Neck (25%)	1
Ricin Poisoning	26	8	6.7	Digestive (22%)	5
Essential Thrombocythemia	29	10	6.7	Blood (38%)	7
Idiopathic Hypereosinophilic Syndrome	17	8	6.7	Cardiovascular (33%)	6
IPEX Syndrome	17	10	6.7	Immune (39%)	11
3-M Syndrome	54	12	6.7	Musculoskeletal (36%)	18
Cowden Syndrome	13	9	6.7	Neoplasm (38%)	8
Cornelia de Lange syndrome	34	9	6.7	Head and Neck (30%)	12
Smith-Magenis Syndrome	29	11	6.7	Nervous System (45%)	2
SETD5 Haploinsufficiency Syndrome	40	12	6.7	Nervous System (41%)	6
Finnish Type Amyloidosis	10	8	6.6	Nervous System (33%)	4
Sitosterolemia	12	8	6.6	Blood (33%)	2
Bejel	14	8	6.6	Head and Neck (28%)	4
Cardiofaciocutaneous Syndrome	11	7	6.6	Cardiovascular (18%)	0
Diffuse Large B-Cell Lymphoma	7	7	6.6	Blood (18%)	3
Oroya fever	10	7	6.6	Constitutional (18%)	1
Thiamine-Responsive Megaloblastic Anemia Syndrome	9	7	6.6	Blood (18%)	2
IL21R Deficiency	13	9	6.6	Immune (38%)	7
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, and Brain Abnormalities	47	10	6.6	Nervous System (34%)	8
Hereditary Hemorrhagic Telangiectasia Type 5	10	8	6.6	Cardiovascular (29%)	7
Autosomal Recessive Robinow Syndrome	75	11	6.6	Head and Neck (34%)	16
Allopurinol-Induced Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis	6	7	6.6	Head and Neck (22%)	1
Familial Mediterranean Fever	7	7	6.6	Immune (22%)	2
Obesity Due to MC4R Pathway Disruption	6	7	6.6	Endocrine (22%)	3
Peripheral T-Cell Lymphoma	6	7	6.6	Cardiovascular (22%)	2
Tularemia	7	7	6.6	Constitutional (22%)	2
Waldenstrom Macroglobulinemia	4	7	6.6	Blood (22%)	3
CHD8-Related Neurodevelopmental Disorder with Overgrowth	36	11	6.6	Nervous System (40%)	2
Microcephaly, Short Stature, and Impaired Glucose Metabolism 2	21	9	6.6	Nervous System (36%)	3
Congenital Thrombotic Thrombocytopenic Purpura	7	7	6.6	Blood (20%)	3
Immunodeficiency 63 with Lymphoproliferation and Autoimmunity	11	9	6.6	Immune (40%)	6
Parvovirus B19 Infection	6	7	6.6	Blood (20%)	3
STRA6-related syndromic microphthalmia	10	7	6.6	Eye (20%)	0
Peutz-Jeghers syndrome	15	9	6.6	Digestive (28%)	9
Neurodegeneration Childhood-onset With Cerebellar Atrophy	38	13	6.6	Nervous System (49%)	7
Peters plus syndrome	24	8	6.6	Eye (28%)	3
Relapsing Polychondritis	15	7	6.6	Immune (24%)	5
Fragile X Syndrome	34	11	6.6	Nervous System (40%)	3
Lyme Disease	9	7	6.6	Nervous System (23%)	3
Mitochondrial Neurogastrointestinal Encephalomyopathy	10	7	6.6	Nervous System (23%)	2
Vascular Ehlers-Danlos Syndrome	11	8	6.6	Integument (31%)	1
Immunodeficiency 57	13	9	6.6	Immune (32%)	5
ALG11-congenital disorder of glycosylation	37	10	6.6	Nervous System (36%)	6
Mitochondrial Complex I Deficiency, Nuclear Type 1	15	9	6.6	Nervous System (37%)	3
X-linked Lymphoproliferative Disease Due To SH2D1A Deficiency	15	8	6.5	Immune (27%)	8
Arts syndrome	22	8	6.5	Nervous System (33%)	1
Intellectual Disability, Autosomal Dominant 48	29	10	6.5	Head and Neck (29%)	8
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	35	10	6.5	Nervous System (35%)	9
Polycystic Kidney Disease	23	9	6.5	Genitourinary (34%)	6
Cornelia de Lange Syndrome 1	16	8	6.5	Nervous System (35%)	1
Congenital Merosin-deficient Muscular Dystrophy 1A	47	12	6.5	Musculoskeletal (39%)	14
Bell's palsy	9	8	6.5	Head and Neck (25%)	5
Frias syndrome	19	8	6.5	Nervous System (26%)	4
Gonorrhea	13	9	6.5	Genitourinary (39%)	3
Vitamin D-Dependent Rickets Type 2A	15	9	6.5	Musculoskeletal (39%)	3
Hypomyelinating Leukodystrophy 4	29	11	6.5	Nervous System (43%)	6
Immunodeficiency 69	17	8	6.5	Immune (29%)	3
Acrodysostosis	13	7	6.5	Growth (21%)	1
Fountain Syndrome	13	7	6.5	Head and Neck (21%)	1
Immunodeficiency 118	8	9	6.5	Immune (43%)	4
Neuromyelitis Optica	11	7	6.5	Musculoskeletal (21%)	3
Severe Congenital Neutropenia 7, Autosomal Recessive	9	9	6.5	Immune (43%)	5
Developmental And Epileptic Encephalopathy 77	23	8	6.5	Nervous System (29%)	1
Lathosterolosis	19	8	6.5	Head and Neck (29%)	4
Neurodevelopmental Disorder with Poor Growth, Spastic Tetraplegia, and Hearing Loss	20	9	6.5	Nervous System (38%)	3
45,X/46,XY Mixed Gonadal Dysgenesis	35	10	6.5	Genitourinary (42%)	8
Fontaine Progeroid Syndrome	54	10	6.5	Head and Neck (29%)	18
Intellectual Disability, X-linked, Syndromic 33	28	10	6.5	Nervous System (32%)	3
Pemphigus Vulgaris	22	9	6.5	Integument (36%)	6
Intellectual Disability, Autosomal Dominant 30	15	9	6.5	Nervous System (41%)	1
Multiple Mitochondrial Dysfunctions Syndrome 1	15	8	6.5	Nervous System (32%)	4
SUCLA2-Related Mitochondrial DNA Depletion Syndrome	18	8	6.5	Nervous System (32%)	1
Familial Partial Lipodystrophy	11	8	6.5	Metabolism (36%)	3
Brucella Melitensis Brucellosis	9	7	6.4	Musculoskeletal (25%)	2
Carboxypeptidase N Deficiency	6	7	6.4	Metabolism (25%)	5
Congenital Leptin Deficiency	9	7	6.4	Endocrine (25%)	3
Eosinophilic Fasciitis	8	7	6.4	Integument (25%)	2
Follicular Lymphoma	8	7	6.4	Blood (25%)	3
Malaria	10	7	6.4	Nervous System (25%)	1
Middle East Respiratory Syndrome	10	7	6.4	Respiratory (25%)	2
NF1 Microdeletion Syndrome	9	7	6.4	Integument (25%)	2
Plasma Cell Neoplasm	8	7	6.4	Musculoskeletal (25%)	2
Sennetsu Fever	8	7	6.4	Immune (25%)	3
XFE Progeroid Syndrome	10	7	6.4	Nervous System (25%)	1
Neurodevelopmental Disorder with or without Anomalies of the Brain, Eye, or Heart	30	8	6.4	Nervous System (32%)	1
MEND Syndrome	18	9	6.4	Nervous System (37%)	1
Juvenile-Onset Diabetes Mellitus With Central and Peripheral Neurodegeneration	16	9	6.4	Nervous System (40%)	3
Psoriasis	16	9	6.4	Integument (40%)	4
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	16	7	6.4	Head and Neck (22%)	2
ACTH-Independent Macronodular Adrenal Hyperplasia 3	12	8	6.4	Endocrine (33%)	3
Barth syndrome	12	8	6.4	Cardiovascular (33%)	3
Donnai-Barrow syndrome	13	8	6.4	Nervous System (33%)	2
Leukoencephalopathy Progressive Infantile-onset With Or Without Deafness	13	8	6.4	Nervous System (33%)	1
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	44	11	6.4	Nervous System (34%)	5
Thrombocytopenia-Absent Radius Syndrome	14	8	6.4	Blood (33%)	5
Methanol Poisoning	14	8	6.4	Nervous System (31%)	2
X-linked Chondrodysplasia Punctata 2	12	8	6.4	Musculoskeletal (31%)	2
Antiphospholipid Syndrome	20	8	6.4	Cardiovascular (25%)	5
Mucopolysaccharidosis type X	24	11	6.4	Musculoskeletal (46%)	8
CTNNB1 Neurodevelopmental Disorder	49	11	6.4	Nervous System (43%)	4
Congenital Hypothyroidism	13	7	6.4	Digestive (24%)	4
WHIM Syndrome 1	15	9	6.4	Immune (32%)	10
Omodysplasia	22	9	6.4	Head and Neck (27%)	9
MTO1 Deficiency	19	8	6.4	Nervous System (32%)	3
Holocarboxylase Synthetase Deficiency	19	8	6.4	Metabolism (30%)	1
Osteogenesis Imperfecta Type I	14	9	6.4	Musculoskeletal (42%)	4
Immunodeficiency 76	12	9	6.3	Immune (38%)	8
Hereditary Hemorrhagic Telangiectasia Type 2	14	9	6.3	Cardiovascular (40%)	10
Organophosphate Poisoning	14	7	6.3	Nervous System (29%)	0
Combined Oxidative Phosphorylation Deficiency 35	23	10	6.3	Nervous System (45%)	5
Hereditary Hemorrhagic Telangiectasia Type 1	11	8	6.3	Cardiovascular (35%)	8
Acetaminophen Hepatotoxicity	10	7	6.3	Digestive (27%)	1
Amniotic Fluid Embolism	20	8	6.3	Respiratory (27%)	2
Cisplatin Toxicity	10	7	6.3	Blood (27%)	1
Cold Agglutinin Disease	8	7	6.3	Integument (27%)	3
Congenital Adrenal Hyperplasia	10	7	6.3	Genitourinary (27%)	1
Epidemic typhus	9	7	6.3	Nervous System (27%)	2
Familial Chylomicronemia Syndrome	6	7	6.3	Digestive (27%)	4
Griscelli Syndrome Type 2	8	7	6.3	Immune (27%)	2
Hypogonadotropic Hypogonadism 18 With or Without Anosmia	8	7	6.3	Genitourinary (27%)	3
Mixed Germ Cell Tumor	8	7	6.3	Metabolism (27%)	3
Mumps	8	7	6.3	Immune (27%)	3
Rickettsia Parkeri Spotted Fever	8	7	6.3	Immune (27%)	3
Yersinia Pseudotuberculosis Infectious Disease	8	7	6.3	Immune (27%)	4
Abetalipoproteinemia	40	8	6.3	Metabolism (29%)	1
Common Variable Immunodeficiency	13	8	6.3	Immune (31%)	9
Adenoid Cystic Carcinoma	7	7	6.3	Neoplasm (23%)	4
Infantile Liver Failure Syndrome 1	13	7	6.3	Digestive (23%)	0
Isolated Thyroid-stimulating Hormone Deficiency	11	7	6.3	Digestive (23%)	2
Jacobsen Syndrome	13	7	6.3	Eye (23%)	0
Neurodevelopmental Disorder with Central Hypotonia and Dysmorphic Facies	34	9	6.3	Nervous System (28%)	5
Wolfram Syndrome	29	11	6.3	Nervous System (47%)	3
Combined Oxidative Phosphorylation Defect Type 26	16	8	6.3	Nervous System (35%)	1
Gastric Adenocarcinoma	11	8	6.3	Digestive (35%)	5
Dermatosparaxis Ehlers-Danlos Syndrome	15	9	6.3	Musculoskeletal (36%)	6
Multiple Acyl-CoA Dehydrogenase Deficiency	15	7	6.3	Metabolism (27%)	0
GATA2 Deficiency	18	9	6.3	Immune (31%)	7
SDHA-Related Neurodegeneration With Ataxia and Optic Atrophy	14	8	6.3	Nervous System (38%)	2
Mitochondrial Complex I Deficiency, Nuclear Type 36	13	8	6.3	Nervous System (32%)	4
Combined oxidative phosphorylation deficiency 48	15	8	6.3	Eye (29%)	1
Down_syndrome	11	8	6.3	Nervous System (38%)	1
Fibrolamellar Hepatocellular Carcinoma	10	8	6.3	Digestive (38%)	3
Lead Poisoning	12	8	6.3	Nervous System (38%)	1
Renpenning syndrome	11	8	6.3	Nervous System (38%)	1
Arterial Tortuosity Syndrome	14	7	6.3	Cardiovascular (31%)	2
GM3 synthase deficiency	17	8	6.3	Nervous System (37%)	1
Diabetes Deafness Developmental Delay and Short Stature Syndrome	6	7	6.3	Nervous System (30%)	3
Inherited Porphyria	9	7	6.3	Digestive (30%)	1
Mucolipidosis Type II	10	7	6.3	Musculoskeletal (30%)	0
Multiple Myeloma	9	7	6.3	Musculoskeletal (30%)	1
Oral Cavity Squamous Cell Carcinoma	6	7	6.3	Head and Neck (30%)	3
PGM2L1 Deficiency	10	7	6.3	Nervous System (30%)	0
Human Granulocytic Anaplasmosis	11	7	6.3	Blood (21%)	3
COG4-Congenital Disorder of Glycosylation	22	9	6.3	Nervous System (40%)	2
ACAD9 Deficiency	9	7	6.2	Nervous System (33%)	0
Chronic Primary Adrenal Insufficiency	10	7	6.2	Metabolism (33%)	0
EFL1-related Shwachman-Diamond syndrome	6	7	6.2	Blood (33%)	3
Guillouet-Gordon Syndrome	8	7	6.2	Nervous System (33%)	1
Metaphyseal Chondrodysplasia, Jansen Type	14	7	6.2	Genitourinary (22%)	4
X-Linked Hypophosphatemia	15	10	6.2	Musculoskeletal (47%)	4
Congenital Myasthenic Syndrome 7	12	8	6.2	Nervous System (36%)	2
Sclerosteosis	10	8	6.2	Musculoskeletal (36%)	4
Stiff Person Syndrome	24	10	6.2	Nervous System (42%)	2
Staphylococcal Scalded Skin Syndrome	13	8	6.2	Integument (28%)	3
Sulfur Mustard Poisoning	20	8	6.2	Respiratory (30%)	7
Catatonia	16	8	6.2	Nervous System (39%)	2
Larsen-like Syndrome B3GAT3 Type	30	10	6.2	Musculoskeletal (43%)	5
Hereditary Elliptocytosis	18	8	6.2	Blood (35%)	4
Pseudohypoparathyroidism	14	7	6.2	Musculoskeletal (24%)	3
Hyper-IgM Syndrome Type 2	15	9	6.2	Immune (39%)	10
Pulmonary Hemosiderosis	30	10	6.2	Respiratory (35%)	3
Bainbridge-Ropers syndrome	31	9	6.2	Nervous System (38%)	2
Ayme-Gripp syndrome	11	7	6.2	Head and Neck (25%)	1
Central Congenital Hypothyroidism	9	7	6.2	Endocrine (25%)	3
Chronic Lymphocytic Leukemia	8	7	6.2	Blood (25%)	3
ISCU Myopathy	10	7	6.2	Metabolism (25%)	2
Pallister-Hall Syndrome	9	7	6.2	Endocrine (25%)	3
Ergotism	15	7	6.2	Cardiovascular (25%)	1
Immunodeficiency 93 and Hypertrophic Cardiomyopathy	14	8	6.2	Immune (29%)	5
Cohen Syndrome	12	7	6.2	Musculoskeletal (31%)	1
Dyskeratosis Congenita Autosomal Recessive 8	9	7	6.2	Integument (31%)	2
Ludwig's Angina	9	7	6.2	Head and Neck (31%)	3
Paroxysmal Nocturnal Hemoglobinuria	10	7	6.2	Blood (31%)	3
Cockayne Syndrome	36	9	6.2	Nervous System (34%)	4
Branchiooculofacial Syndrome	22	9	6.1	Head and Neck (41%)	4
Chlorophacinone Poisoning	18	9	6.1	Blood (40%)	8
Prader-Willi Syndrome	25	9	6.1	Nervous System (43%)	3
Ellis-van Creveld Syndrome	16	8	6.1	Musculoskeletal (33%)	5
Morquio syndrome	11	8	6.1	Musculoskeletal (42%)	1
Friedreich Ataxia	17	9	6.1	Nervous System (43%)	4
adrenoleukodystrophy	15	9	6.1	Nervous System (44%)	3
Immunodeficiency 92	13	9	6.1	Immune (44%)	6
Autoinflammation, immune dysregulation, and eosinophilia	17	9	6.1	Immune (40%)	7
Liddle syndrome	14	7	6.1	Cardiovascular (29%)	0
Hyperinsulinemic Hypoglycemia	17	8	6.1	Metabolism (32%)	2
Chondrodysplasia Blomstrand Type	14	7	6.1	Musculoskeletal (30%)	5
Camurati-Engelmann Disease	11	8	6.1	Musculoskeletal (38%)	5
Isobutyryl-CoA Dehydrogenase Deficiency	14	8	6.1	Metabolism (38%)	2
Mitochondrial Complex I Deficiency Nuclear Type 19	14	8	6.1	Nervous System (38%)	2
Pseudoxanthoma Elasticum	11	8	6.1	Cardiovascular (38%)	4
Carnitine Palmitoyltransferase II Deficiency	14	7	6.1	Musculoskeletal (27%)	1
Malignant Germ Cell Tumor of Ovary	12	7	6.1	Digestive (27%)	3
Autosomal Dominant Polycystic Kidney Disease	26	9	6.1	Genitourinary (41%)	7
Legius Syndrome	14	7	6.1	Nervous System (25%)	4
Cranioectodermal Dysplasia	18	8	6.1	Musculoskeletal (32%)	6
Neuromuscular Disease And Ocular Or Auditory Anomalies With Or Without Seizures	11	7	6.1	Eye (23%)	1
FADD-Related Immunodeficiency	14	7	6.1	Immune (31%)	2
Autosomal Recessive Spinocerebellar Ataxia 20	39	10	6.1	Nervous System (35%)	6
Hereditary Multiple Osteochondromas	13	7	6.1	Musculoskeletal (33%)	5
Porphyria due to ALA Dehydratase Deficiency	11	8	6.1	Metabolism (33%)	4
Astrakhan spotted fever	6	7	6.0	Cardiovascular (27%)	3
Hashimoto's Thyroiditis	11	7	6.0	Endocrine (27%)	0
Yaws	12	7	6.0	Musculoskeletal (28%)	6
Craniometaphyseal Dysplasia	21	8	6.0	Head and Neck (29%)	7
DPAGT1-congenital disorder of glycosylation	16	8	6.0	Nervous System (39%)	1
CATSHL Syndrome	29	10	6.0	Musculoskeletal (39%)	11
Ectodermal Dysplasia and Immunodeficiency 2	11	7	6.0	Immune (32%)	7
Ehlers-Danlos Syndrome	18	8	6.0	Integument (32%)	3
Primary Ciliary Dyskinesia 30	16	7	6.0	Respiratory (33%)	3
Congenital Sialidosis Type 2	3	6	6.0	Cardiovascular (17%)	2
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome	3	6	6.0	Cardiovascular (17%)	2
Immunodeficiency 79	7	7	6.0	Immune (33%)	4
Indian Tick Typhus	10	7	6.0	Metabolism (33%)	2
Invasive Non-Typhoidal Salmonellosis	8	7	6.0	Immune (33%)	3
Kaposi Sarcoma	5	6	6.0	Cardiovascular (17%)	1
Queensland Tick Typhus	8	7	6.0	Integument (33%)	3
Chromosome 2q32-q33 Deletion Syndrome	24	9	6.0	Nervous System (31%)	2
Immunodeficiency 131	10	8	6.0	Immune (40%)	6
Treacher Collins Syndrome	17	8	6.0	Head and Neck (40%)	3
Peroxisome Biogenesis Disorder 5B	21	9	6.0	Nervous System (41%)	1
Primary Myelofibrosis	29	8	6.0	Blood (38%)	8
Thanatophoric Dysplasia Type 1	19	9	6.0	Musculoskeletal (39%)	8
Combined Immunodeficiency Due To MALT1 Deficiency	23	10	6.0	Immune (44%)	12
TRAF3 Haploinsufficiency	12	8	6.0	Immune (37%)	10
KDM6B-Related Neurodevelopmental Disorder	27	8	6.0	Nervous System (33%)	3
Beck-Fahrner Syndrome	16	8	6.0	Nervous System (41%)	1
Hemophagocytic Lymphohistiocytosis	11	7	6.0	Immune (25%)	4
NGLY1-congenital disorder of deglycosylation	18	7	6.0	Nervous System (32%)	1
Combined Pituitary Hormone Deficiencies, Genetic Form	19	9	6.0	Endocrine (37%)	8
SRD5A3-Congenital Disorder of Glycosylation	20	8	6.0	Eye (33%)	3
ALG2-congenital disorder of glycosylation	13	7	6.0	Musculoskeletal (27%)	2
Terminal Osseous Dysplasia	12	7	6.0	Integument (27%)	3
Atopic Dermatitis	13	9	5.9	Integument (36%)	7
Chromosome 3q29 Microdeletion Syndrome	17	9	5.9	Nervous System (44%)	1
Juvenile Paget Disease	13	9	5.9	Musculoskeletal (44%)	5
Ring Chromosome 14 Syndrome	27	9	5.9	Nervous System (40%)	2
Autosomal Recessive Progressive External Ophthalmoplegia 1	17	8	5.9	Musculoskeletal (30%)	2
Blau Syndrome	11	7	5.9	Eye (31%)	2
Combined Oxidative Phosphorylation Deficiency 34	9	7	5.9	Metabolism (31%)	4
Imerslund-Grasbeck Syndrome Type 1	14	7	5.9	Metabolism (29%)	3
Oculogastrointestinal-neurodevelopmental syndrome	9	7	5.9	Nervous System (31%)	2
Androgen Insensitivity Syndrome	54	11	5.9	Genitourinary (45%)	8
Malonic Aciduria	16	7	5.9	Cardiovascular (24%)	1
Bosma Arhinia Microphthalmia Syndrome	38	9	5.9	Head and Neck (40%)	8
White-Sutton Syndrome	27	9	5.9	Nervous System (43%)	2
Diamond-Blackfan Anemia	8	7	5.9	Blood (29%)	5
Hermansky-Pudlak Syndrome	11	7	5.9	Eye (29%)	3
SURF1-Related Leigh Syndrome	14	8	5.9	Nervous System (43%)	0
Orofaciodigital Syndrome	19	7	5.9	Musculoskeletal (25%)	5
WAPL-Related Developmental Disorder	20	8	5.9	Nervous System (39%)	3
Vitamin D-Dependent Rickets Type 3	18	8	5.9	Musculoskeletal (32%)	7
Chromosome 17q12 Duplication Syndrome	22	9	5.9	Nervous System (46%)	1
MCM9-related gametogenic failure	8	7	5.9	Genitourinary (36%)	3
Mitochondrial Complex I Deficiency, Nuclear Type 32	10	7	5.9	Nervous System (36%)	1
Type 2 Diabetes Mellitus	10	7	5.9	Metabolism (36%)	1
HIDEA_Syndrome	13	7	5.9	Nervous System (36%)	1
Triple A Syndrome	12	7	5.9	Nervous System (36%)	2
DOORS Syndrome	11	7	5.9	Nervous System (33%)	3
MHC class II deficiency	34	11	5.8	Immune (47%)	17
Severe Congenital Neutropenia 1, Autosomal Dominant	13	8	5.8	Immune (38%)	7
Cleft Palate, Proliferative Retinopathy, and Developmental Delay	16	7	5.8	Head and Neck (30%)	3
Intellectual Disability Autosomal Dominant 52	55	10	5.8	Nervous System (45%)	4
Developmental and Epileptic Encephalopathy 82	37	9	5.8	Nervous System (43%)	4
Congenital Myelofibrosis with Anemia, Neutropenia, Developmental Delay, and Ocular Abnormalities	15	7	5.8	Blood (29%)	2
Zlotogora-Ogur Syndrome	13	7	5.8	Integument (29%)	4
Keratosis follicularis spinulosa decalvans	19	8	5.8	Integument (37%)	12
MED13L Syndrome	25	8	5.8	Nervous System (38%)	1
Aromatic L-amino acid decarboxylase deficiency	41	11	5.8	Nervous System (50%)	5
Peroxisome Biogenesis Disorder 11B	14	8	5.8	Nervous System (38%)	2
Autosomal Dominant Osteopetrosis Type II	19	9	5.8	Musculoskeletal (48%)	6
Orofaciodigital Syndrome Type I	21	8	5.8	Head and Neck (29%)	8
Combined Oxidative Phosphorylation Defect Type 21	18	9	5.8	Nervous System (44%)	4
X-linked Lymphoproliferative Disease Due To XIAP Deficiency	8	7	5.8	Immune (31%)	5
Prune Belly Syndrome	17	8	5.8	Genitourinary (42%)	2
TRMU-Related Acute Infantile Liver Failure	14	7	5.7	Digestive (27%)	1
Very Long-Chain Acyl-CoA Dehydrogenase Deficiency	15	6	5.7	Metabolism (27%)	0
Methylcobalamin Deficiency Type cblE	16	8	5.7	Nervous System (39%)	1
Autoimmune Gastritis	9	6	5.7	Digestive (25%)	2
Ectopic Pregnancy	10	6	5.7	Genitourinary (25%)	2
Parathyroid Hyperplasia	10	6	5.7	Musculoskeletal (25%)	3
Silver-Russell Syndrome	11	6	5.7	Growth (25%)	1
Smith-Lemli-Opitz syndrome	8	6	5.7	Musculoskeletal (25%)	3
Tuberculosis	10	7	5.7	Constitutional (33%)	2
Vitamin D-Dependent Rickets Type 1B	10	7	5.7	Metabolism (33%)	2
Kennedy Disease	15	8	5.7	Nervous System (44%)	1
Kleefstra Syndrome	15	8	5.7	Nervous System (44%)	1
Rickettsia helvetica spotted fever	8	6	5.7	Constitutional (20%)	2
Acute Lymphoblastic Leukemia	10	7	5.7	Blood (29%)	3
Charcot-Marie-Tooth Disease Dominant Intermediate B	6	6	5.7	Nervous System (29%)	1
Combined Immunodeficiency Due To GINS1 Deficiency	10	7	5.7	Blood (29%)	4
Granular Cell Tumor	4	6	5.7	Digestive (29%)	2
KINSSHIP Syndrome	6	6	5.7	Nervous System (29%)	1
MALT Lymphoma	4	6	5.7	Constitutional (29%)	3
Nager Acrofacial Dysostosis	10	7	5.7	Head and Neck (29%)	4
Oculocerebrodental Syndrome	7	6	5.7	Eye (29%)	0
Renal Cell Carcinoma	5	6	5.7	Constitutional (29%)	2
Scarlet Fever	5	6	5.7	Immune (29%)	2
Sengers syndrome	7	6	5.7	Cardiovascular (29%)	0
aceruloplasminemia	6	6	5.7	Nervous System (29%)	1
Raine Syndrome	25	8	5.7	Musculoskeletal (31%)	6
Short-Rib Polydactyly Syndrome	20	8	5.7	Musculoskeletal (38%)	6
Chylomicron Retention Disease	25	8	5.7	Metabolism (35%)	1
Cauda Equina Syndrome	9	6	5.7	Constitutional (23%)	4
Muggenthaler-Chowdhury-Chioza Syndrome	12	6	5.7	Eye (23%)	1
Progressive Familial Intrahepatic Cholestasis	21	9	5.7	Digestive (46%)	4
Achondroplasia	43	10	5.7	Musculoskeletal (42%)	18
Malan Syndrome	17	7	5.7	Musculoskeletal (28%)	1
ReNU Syndrome	34	9	5.7	Nervous System (42%)	3
Ainhum	7	6	5.7	Integument (22%)	2
Cushing's Syndrome	7	6	5.7	Cardiovascular (22%)	1
Glycogen Storage Disease Due To Lactate Dehydrogenase M-subunit Deficiency	7	6	5.7	Constitutional (22%)	2
Mitochondrial Complex I Deficiency, Nuclear Type 6	8	6	5.7	Digestive (22%)	1
Osteogenesis Imperfecta Type IX	14	8	5.7	Musculoskeletal (44%)	3
Postpoliomyelitis Syndrome	8	6	5.7	Constitutional (22%)	1
Rajab Interstitial Lung Disease With Brain Calcifications 1	8	6	5.7	Growth (22%)	1
Trench Fever	6	6	5.7	Cardiovascular (22%)	3
Phenylketonuria	26	11	5.7	Nervous System (52%)	4
Mediator Complex Neurodevelopmental Disorder	25	9	5.7	Nervous System (40%)	4
Niemann-Pick Disease Type C	22	9	5.7	Nervous System (40%)	5
5-Oxoprolinase Deficiency	6	6	5.7	Genitourinary (25%)	2
Acrodermatitis Enteropathica	7	6	5.7	Integument (25%)	1
Anal Canal Carcinoma	4	6	5.7	Cardiovascular (25%)	3
Anaplastic Large Cell Lymphoma	6	6	5.7	Cardiovascular (25%)	2
Carney-Stratakis syndrome	4	6	5.7	Digestive (25%)	3
Chronic Myelomonocytic Leukemia	5	6	5.7	Blood (25%)	2
Clear Cell Renal Cell Carcinoma	6	6	5.7	Genitourinary (25%)	2
Combined Oxidative Phosphorylation Defect Type 30	8	6	5.7	Metabolism (25%)	0
EBV-Associated Gastric Cancer	6	6	5.7	Constitutional (25%)	2
Ewing Sarcoma	7	6	5.7	Musculoskeletal (25%)	1
Familial Visceral Neuropathy 2	7	6	5.7	Digestive (25%)	1
Gestational Trophoblastic Neoplasm	5	6	5.7	Genitourinary (25%)	3
Kanzaki Disease	7	6	5.7	Ear (25%)	1
Lemierre Syndrome	7	6	5.7	Blood (25%)	1
Malignant Sertoli-Leydig Cell Tumor of Ovary	6	6	5.7	Digestive (25%)	2
NARP syndrome	6	6	5.7	Endocrine (25%)	2
Nasopharyngeal Carcinoma	6	6	5.7	Head and Neck (25%)	2
STING-Associated Vasculopathy with Onset in Infancy	6	6	5.7	Cardiovascular (25%)	2
Streptobacillary Rat-Bite Fever	6	6	5.7	Constitutional (25%)	2
Adamantinoma	8	7	5.7	Musculoskeletal (38%)	5
Anorexia Nervosa	13	7	5.7	Nervous System (38%)	0
Autosomal Dominant Hypercholesterolemia 3	10	7	5.7	Cardiovascular (38%)	3
Dientamoebiasis	10	7	5.7	Digestive (38%)	3
Dysostosis Multiplex, Ain-Naz Type	11	7	5.7	Musculoskeletal (38%)	2
Epithelioid Hemangioendothelioma	9	7	5.7	Neoplasm (38%)	4
Frontonasal Dysplasia	10	7	5.7	Head and Neck (38%)	3
Primary Polyarteritis Nodosa	12	7	5.7	Cardiovascular (38%)	1
Esophageal Atresia	15	8	5.6	Digestive (37%)	4
HHAT-related chondrodysplasia with 46,XY disorder of sex development	19	7	5.6	Eye (26%)	3
Combined Oxidative Phosphorylation Defect Type 23	14	7	5.6	Nervous System (36%)	0
Hallermann-Streiff Syndrome	13	7	5.6	Head and Neck (36%)	1
Pancreatic Ductal Adenocarcinoma	9	7	5.6	Digestive (36%)	5
Spondylometaphyseal Dysplasia with Corneal Dystrophy	11	7	5.6	Musculoskeletal (36%)	3
Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease	17	8	5.6	Nervous System (45%)	2
Warsaw breakage syndrome	18	8	5.6	Nervous System (45%)	1
Myofibrillar Myopathy	19	8	5.6	Musculoskeletal (41%)	3
PUS3-Related Neurodevelopmental Disorder	21	8	5.6	Nervous System (44%)	1
Immunodeficiency 60	14	7	5.6	Immune (36%)	10
Hartnup Disease	21	8	5.6	Nervous System (42%)	5
Spondyloepimetaphyseal Dysplasia Faden-Alkuraya Type	41	10	5.6	Musculoskeletal (40%)	14
Yersinia Enterocolitica Infectious Disease	11	7	5.6	Digestive (29%)	6
CAPRIN1 Related Neurodevelopmental Disorder	36	11	5.6	Nervous System (51%)	3
Chediak-Higashi Syndrome	16	7	5.6	Immune (30%)	6
PACS2-Related Developmental and Epileptic Encephalopathy	20	8	5.6	Nervous System (43%)	1
Centronuclear Myopathy	15	7	5.6	Musculoskeletal (38%)	1
Incontinentia Pigmenti	14	7	5.6	Integument (38%)	2
Borrelia Miyamotoi Disease	9	6	5.6	Metabolism (27%)	2
Chlamydia Pneumoniae Pneumonia	6	6	5.6	Immune (27%)	3
Genitopatellar Syndrome	10	6	5.6	Musculoskeletal (27%)	1
Sepsis	11	6	5.6	Cardiovascular (27%)	0
Immunodeficiency 97 With Autoinflammation	9	7	5.6	Immune (39%)	6
STK4 Deficiency	32	11	5.6	Immune (43%)	22
Severe X-linked Mitochondrial Encephalomyopathy	36	10	5.6	Nervous System (46%)	7
Spinocerebellar Ataxia, Autosomal Recessive 32	42	12	5.6	Nervous System (52%)	2
Campomelic Dysplasia	18	7	5.6	Musculoskeletal (38%)	3
Rienhoff Syndrome	25	7	5.6	Musculoskeletal (37%)	2
Atypical Hemolytic Uremic Syndrome	12	6	5.6	Metabolism (27%)	3
Familial Expansile Osteolysis	12	7	5.6	Musculoskeletal (40%)	3
Quebec Platelet Disorder	8	7	5.6	Blood (40%)	5
X-linked Syndromic Intellectual Disability, Turner Type	18	7	5.6	Nervous System (30%)	4
Autosomal Recessive Spondylometaphyseal Dysplasia, Megarbane Type	42	9	5.5	Musculoskeletal (45%)	8
COVID-19	9	6	5.5	Respiratory (29%)	5
LAMA5-Related Bent Bone Dysplasia	18	9	5.5	Musculoskeletal (44%)	7
Alpha-Methylacyl-CoA Racemase Deficiency	13	7	5.5	Nervous System (33%)	2
Epidermolysis Bullosa Simplex 7 With Nephropathy And Deafness	13	7	5.5	Genitourinary (33%)	2
ATR-X-Related Syndrome	17	6	5.5	Head and Neck (26%)	1
CD27-related lymphoproliferative and immune disorder	11	7	5.5	Immune (32%)	6
Neurofibromatosis	9	7	5.5	Neoplasm (32%)	6
Purine nucleoside phosphorylase deficiency	15	7	5.5	Nervous System (32%)	4
ALDH18A1-Related Autosomal Dominant Cutis Laxa Type 3	16	8	5.5	Musculoskeletal (35%)	3
Severe Neonatal-Onset Encephalopathy With Microcephaly	26	9	5.5	Nervous System (46%)	1
Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 3	14	8	5.5	Nervous System (47%)	1
Mabry Syndrome	18	9	5.5	Nervous System (50%)	2
Achondrogenesis Type IA	21	8	5.5	Musculoskeletal (39%)	6
MED13 Syndrome	28	8	5.5	Nervous System (44%)	3
RHYNS Syndrome	10	6	5.5	Endocrine (25%)	2
X-linked Dominant Chondrodysplasia Chassaing-Lacombe Type	9	6	5.5	Limbs (25%)	3
Autosomal Dominant Osteosclerosis Worth Type	17	7	5.5	Nervous System (28%)	7
Immunodeficiency 80 with or without Congenital Cardiomyopathy	17	7	5.5	Immune (31%)	10
10q22.3q23.3 Microduplication Syndrome	23	8	5.5	Head and Neck (42%)	2
Papillon-Lefevre Disease	11	6	5.5	Head and Neck (25%)	5
Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis	33	8	5.5	Musculoskeletal (40%)	7
EDAR-Related Hypohidrotic Ectodermal Dysplasia	15	8	5.5	Head and Neck (35%)	6
Cat-scratch Disease	6	7	5.5	Immune (42%)	5
Duane-Radial Ray Syndrome	27	8	5.5	Musculoskeletal (32%)	11
Immunodeficiency 61	7	7	5.5	Immune (42%)	3
Primary Coenzyme Q10 Deficiency	12	7	5.5	Nervous System (42%)	0
Small Intestine Cancer	8	7	5.5	Digestive (42%)	3
CDH2-Related ACOG Syndrome	27	7	5.5	Nervous System (38%)	2
Burn-McKeown Syndrome	27	9	5.5	Head and Neck (45%)	4
Amyloidosis	8	6	5.5	Nervous System (30%)	2
Bubonic Plague	9	6	5.5	Constitutional (30%)	1
CCDC115-CDG	14	8	5.5	Digestive (33%)	3
Colon Adenocarcinoma	6	6	5.5	Digestive (30%)	3
Ventricular Septal Defect	11	7	5.4	Cardiovascular (38%)	2
LPIN1-Related Recurrent Myoglobinuria	13	6	5.4	Metabolism (27%)	2
Nocardiosis	14	7	5.4	Respiratory (35%)	5
Autosomal Dominant Osteopetrosis Type I	18	7	5.4	Musculoskeletal (32%)	6
Cardiac Valvular Ehlers-Danlos Syndrome	30	7	5.4	Musculoskeletal (32%)	7
Good Syndrome	10	8	5.4	Immune (39%)	5
Neurooculorenal Syndrome	17	8	5.4	Nervous System (39%)	1
Multiple Mitochondrial Dysfunctions Syndrome 9B	18	8	5.4	Nervous System (43%)	2
LAT Deficiency	28	9	5.4	Immune (39%)	20
EDARADD-Related Hypohidrotic Ectodermal Dysplasia	13	8	5.4	Head and Neck (33%)	6
Perisylvian Polymicrogyria with Cerebellar Hypoplasia and Arthrogryposis	20	8	5.4	Nervous System (42%)	5
Aniridia	13	9	5.4	Eye (50%)	5
Brown-Vialetto-Van Laere Syndrome	11	7	5.4	Nervous System (40%)	3
Ependymoma	12	7	5.4	Nervous System (40%)	3
Inclusion Body Myositis	10	7	5.4	Musculoskeletal (40%)	5
Isovaleric Acidemia	15	7	5.4	Nervous System (40%)	0
Postural Orthostatic Tachycardia Syndrome	14	7	5.4	Nervous System (40%)	1
Fibrochondrogenesis	16	7	5.4	Musculoskeletal (35%)	4
Hypomyelinating Leukodystrophy 10	23	8	5.4	Musculoskeletal (31%)	5
Aneurysm-Osteoarthritis Syndrome	21	8	5.4	Cardiovascular (35%)	4
Neurodevelopmental Disorder With or Without Autism or Seizures	27	9	5.4	Nervous System (50%)	2
MyD88 Deficiency	16	10	5.3	Immune (54%)	8
Acatalasia	7	6	5.3	Head and Neck (33%)	2
Bacillary Angiomatosis	7	6	5.3	Integument (33%)	2
Carney Complex	6	6	5.3	Neoplasm (33%)	3
Chordoma	6	6	5.3	Constitutional (33%)	3
Floating-Harbor syndrome	8	6	5.3	Nervous System (33%)	1
HER2-Positive Colorectal Cancer	5	6	5.3	Digestive (33%)	3
MSI-High Colorectal Cancer	5	6	5.3	Digestive (33%)	3
Orofaciodigital Syndrome 17	8	6	5.3	Head and Neck (33%)	1
Periventricular Nodular Heterotopia	9	6	5.3	Nervous System (33%)	0
Pertussis	7	6	5.3	Respiratory (33%)	2
Pituitary Tumor	6	6	5.3	Nervous System (33%)	2
RNU12-related minor spliceopathy	7	6	5.3	Musculoskeletal (33%)	2
Rhinoscleroma	7	6	5.3	Respiratory (33%)	2
Spondyloepimetaphyseal Dysplasia Krakow Type	8	6	5.3	Musculoskeletal (33%)	1
Wieacker-Wolff Syndrome Spectrum	25	8	5.3	Musculoskeletal (34%)	7
Miller-Dieker Lissencephaly Syndrome	16	7	5.3	Nervous System (42%)	2
Schneckenbecken Dysplasia	18	8	5.3	Musculoskeletal (41%)	9
Anti-Glomerular Basement Membrane Disease	7	6	5.3	Genitourinary (33%)	4
Carbonic Anhydrase VA Deficiency	20	8	5.3	Metabolism (33%)	3
Danon disease	12	6	5.3	Cardiovascular (33%)	0
Hypereosinophilic syndrome	7	6	5.3	Immune (33%)	5
LDLR-Related Familial Hypercholesterolemia	9	6	5.3	Cardiovascular (33%)	3
Lipoic Acid Synthetase Deficiency	10	6	5.3	Nervous System (33%)	1
Multiple Mitochondrial Dysfunctions Syndrome 4	10	6	5.3	Nervous System (33%)	2
Peutz-Jeghers polyp	8	6	5.3	Digestive (33%)	3
Pyruvate Kinase Deficiency	8	6	5.3	Digestive (33%)	3
DYRK1A-related intellectual disability syndrome	22	8	5.3	Nervous System (44%)	2
Autosomal Recessive Multiple Pterygium Syndrome	14	7	5.3	Musculoskeletal (41%)	3
Elsahy-Waters Syndrome	15	7	5.3	Head and Neck (41%)	2
Factor XIII A Subunit Deficiency	9	7	5.3	Blood (41%)	5
Hyperphosphatemic Familial Tumoral Calcinosis	14	7	5.3	Musculoskeletal (41%)	3
Iron Poisoning	14	7	5.3	Digestive (41%)	2
Pancytopenia-Developmental Delay Syndrome	11	7	5.3	Blood (41%)	4
Severe X-linked Intellectual Disability Gustavson Type	14	7	5.3	Nervous System (41%)	2
Immunodeficiency 123 With HPV-related Verrucosis	7	6	5.3	Immune (29%)	5
Liver Cirrhosis	9	7	5.3	Digestive (43%)	3
Pachyonychia Congenita	10	7	5.3	Integument (43%)	4
Beta Mannosidosis	26	10	5.3	Nervous System (52%)	5
Autosomal Recessive Hypercholesterolemia	9	6	5.3	Cardiovascular (27%)	2
Inherited Threoninemia	10	6	5.3	Metabolism (27%)	1
Short-Chain Acyl-CoA Dehydrogenase Deficiency	10	6	5.3	Metabolism (27%)	1
COA5-Related Fatal Infantile Cardioencephalomyopathy	10	6	5.3	Metabolism (31%)	3
IRX5-related craniofacial dysostosis with osteopenia, intellectual disability, and dental anomalies	10	6	5.3	Musculoskeletal (31%)	3
Leukocyte Adhesion Deficiency 1	10	6	5.3	Immune (31%)	3
Cerebrocostomandibular Syndrome	15	7	5.3	Musculoskeletal (39%)	2
You-Hoover-Fong Syndrome	16	7	5.3	Nervous System (39%)	1
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	40	10	5.3	Nervous System (48%)	4
Stickler Syndrome Type 1	28	8	5.3	Musculoskeletal (38%)	4
Charcot-Marie-Tooth Disease Axonal Type 2C	7	6	5.3	Musculoskeletal (38%)	1
Esophageal Squamous Cell Carcinoma	5	6	5.3	Digestive (38%)	2
Joint Laxity, Short Stature, and Myopia	15	7	5.3	Musculoskeletal (38%)	1
KIF5B-Related Kyphomelic Dysplasia	6	6	5.3	Musculoskeletal (38%)	2
PCWH syndrome	7	6	5.3	Nervous System (38%)	1
PTCH1-related nevoid basal cell carcinoma syndrome	4	6	5.3	Neoplasm (38%)	3
Q Fever	5	6	5.3	Immune (38%)	3
USP8-related pituitary adenoma 4	6	6	5.3	Endocrine (38%)	1
Spondylo-ocular Syndrome	19	7	5.3	Eye (32%)	0
UCHL1-Related Neurodegeneration with Optic Atrophy and Spastic Paraplegia	21	8	5.3	Nervous System (44%)	2
Rosacea	9	6	5.3	Integument (31%)	6
CPLX1-Related Developmental and Epileptic Encephalopathy	29	8	5.3	Nervous System (42%)	1
Autoimmune Pulmonary Alveolar Proteinosis	15	8	5.3	Respiratory (47%)	2
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28	15	8	5.3	Musculoskeletal (47%)	2
Spinocerebellar Ataxia, Autosomal Recessive 31	15	8	5.3	Nervous System (47%)	2
Chronic Mucocutaneous Candidiasis	17	8	5.3	Immune (41%)	11
46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency	17	9	5.3	Genitourinary (53%)	2
Spinal Muscular Atrophy	36	8	5.3	Musculoskeletal (37%)	10
Osteogenesis Imperfecta Type IV	15	8	5.3	Musculoskeletal (48%)	6
MYH2-Related Myopathy	24	10	5.2	Musculoskeletal (55%)	7
2-Methylbutyryl-CoA Dehydrogenase Deficiency	11	6	5.2	Metabolism (27%)	3
Dominant Deafness-Onychodystrophy Syndrome	11	6	5.2	Integument (27%)	4
Japanese Spotted Fever	10	6	5.2	Blood (27%)	3
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	23	8	5.2	Musculoskeletal (45%)	6
Mast Cell Activation Syndrome	10	6	5.2	Cardiovascular (29%)	3
Hereditary Transthyretin Amyloidosis	16	6	5.2	Cardiovascular (33%)	2
Autosomal Recessive Hypophosphatemic Rickets 1	20	9	5.2	Musculoskeletal (50%)	4
Glutaryl-CoA Dehydrogenase Deficiency	13	8	5.2	Nervous System (50%)	2
Pancreatic Mucinous Cystadenoma	11	8	5.2	Digestive (50%)	5
Temtamy Preaxial Brachydactyly Syndrome	21	7	5.2	Musculoskeletal (31%)	8
Bone Marrow Failure Syndrome 6	5	6	5.2	Blood (30%)	3
DGAT1 Deficiency	7	6	5.2	Digestive (30%)	1
IFT140-related Recessive Ciliopathy	9	6	5.2	Eye (30%)	1
IGF1 Deficiency	8	6	5.2	Growth (30%)	1
MEDNIK syndrome	9	6	5.2	Integument (30%)	1
Rhizomelic Chondrodysplasia Punctata Type 5	7	6	5.2	Musculoskeletal (30%)	2
Timothy Syndrome	8	6	5.2	Cardiovascular (30%)	2
Vitamin D-Dependent Rickets Type 1A	9	6	5.2	Metabolism (30%)	1
Gnathodiaphyseal Dysplasia	10	7	5.2	Musculoskeletal (39%)	6
Vitamin K-Dependent Coagulation Factor Deficiency	26	9	5.2	Blood (47%)	6
Woodhouse-Sakati Syndrome	15	7	5.2	Nervous System (39%)	3
Immunodeficiency 32B	12	8	5.2	Immune (40%)	9
Acute Opioid Poisoning	10	6	5.2	Respiratory (36%)	1
Adult T-Cell Leukemia/Lymphoma	7	6	5.2	Immune (36%)	3
CHRNA1-Associated Fetal Hypo-akinesia Disorder of Prenatal Onset	8	6	5.2	Musculoskeletal (36%)	3
HER2-Positive Gastric Cancer	7	6	5.2	Digestive (36%)	3
Liberfarb syndrome	9	6	5.2	Musculoskeletal (36%)	1
Achondrogenesis Type II	24	7	5.2	Musculoskeletal (40%)	6
Classic Familial Adenomatous Polyposis	16	8	5.2	Neoplasm (41%)	10
Cocaine Intoxication	18	7	5.2	Cardiovascular (43%)	3
Immunodeficiency 98 With Autoinflammation	13	8	5.2	Blood (41%)	6
Axial Spondylometaphyseal Dysplasia	23	7	5.2	Musculoskeletal (38%)	8
Osteogenesis Imperfecta Type III	17	9	5.2	Musculoskeletal (50%)	5
Spondyloepiphyseal Dysplasia Congenita	19	8	5.2	Musculoskeletal (50%)	3
Grange syndrome	11	6	5.2	Musculoskeletal (33%)	4
Amyotrophic Lateral Sclerosis	46	9	5.1	Nervous System (44%)	11
Multiple Sclerosis	22	8	5.1	Nervous System (48%)	3
Phosphoglycerate Kinase 1 Deficiency	16	8	5.1	Nervous System (50%)	2
DECR Deficiency	22	8	5.1	Nervous System (46%)	5
Biliary Atresia	21	7	5.1	Digestive (42%)	9
Lesch-Nyhan Syndrome	23	8	5.1	Nervous System (44%)	4
Acute Erythroid Leukemia	9	7	5.1	Blood (43%)	3
Fowler Syndrome	14	7	5.1	Nervous System (35%)	5
SLC35A1-Congenital Disorder of Glycosylation	13	6	5.1	Nervous System (38%)	2
Craniodiaphyseal Dysplasia	22	7	5.1	Musculoskeletal (29%)	7
Gray Platelet Syndrome	8	6	5.1	Blood (33%)	2
Hepatosplenic T-cell Lymphoma	8	6	5.1	Blood (33%)	3
Inflammatory Myofibroblastic Tumor	8	6	5.1	Blood (33%)	2
Non-Small Cell Lung Cancer	9	6	5.1	Constitutional (33%)	3
Saethre-Chotzen Syndrome	7	6	5.1	Musculoskeletal (33%)	5
Seckel syndrome	9	6	5.1	Nervous System (33%)	2
VCP-Associated Multisystem Proteinopathy	10	6	5.1	Musculoskeletal (33%)	2
Dacryocystitis-Osteopoikilosis Syndrome	10	7	5.1	Musculoskeletal (46%)	3
Jervell and Lange-Nielsen Syndrome 1	11	7	5.1	Cardiovascular (46%)	2
Peroxisomal Acyl-CoA Oxidase Deficiency	13	7	5.1	Nervous System (46%)	0
Polycystic Kidney Disease 2	10	7	5.1	Genitourinary (46%)	3
SADDAN	10	6	5.1	Nervous System (31%)	3
Shprintzen-Goldberg Syndrome	10	7	5.1	Musculoskeletal (46%)	3
Glycogen Storage Disease Type IX	17	7	5.1	Metabolism (42%)	2
Listeriosis	11	6	5.1	Nervous System (36%)	3
PRPS1 Superactivity	12	6	5.1	Genitourinary (36%)	2
Autosomal Dominant Hypocalcemia 1	14	6	5.1	Metabolism (31%)	2
Multiple Epiphyseal Dysplasia, Beighton Type	13	6	5.1	Musculoskeletal (31%)	3
Cortisone Reductase Deficiency	16	7	5.1	Endocrine (44%)	0
D-2-Hydroxyglutaric Aciduria	13	7	5.1	Nervous System (44%)	3
Mitochondrial Complex I Deficiency, Nuclear Type 2	16	7	5.1	Nervous System (44%)	0
Oculodentodigital Dysplasia	22	7	5.1	Head and Neck (38%)	4
Familial Defective Apolipoprotein B-100	10	6	5.1	Cardiovascular (38%)	3
Noma	10	6	5.1	Head and Neck (38%)	3
Ankylosing Spondylitis	10	6	5.1	Musculoskeletal (29%)	5
Giant Axonal Neuropathy 1	27	9	5.1	Nervous System (43%)	1
Molybdenum Cofactor Deficiency Type A	11	7	5.1	Nervous System (40%)	3
Fibrodysplasia Ossificans Progressiva	21	9	5.0	Musculoskeletal (52%)	6
Neurodevelopmental Disorder with Microcephaly, Seizures, and Cortical Atrophy	22	9	5.0	Nervous System (52%)	3
Warburg micro syndrome	14	6	5.0	Nervous System (33%)	3
ABCC9-Related Intellectual Disability and Myopathy Syndrome	29	8	5.0	Nervous System (39%)	3
Claes-Jensen Type X-Linked Intellectual Disability	20	8	5.0	Nervous System (48%)	4
Atelosteogenesis Type I	20	6	5.0	Musculoskeletal (38%)	5
Familial Hypercholesterolemia	18	8	5.0	Cardiovascular (50%)	4
Portal_Hypertension_Noncirrhotic_2	13	6	5.0	Digestive (37%)	5
Galloway-Mowat syndrome	17	7	5.0	Nervous System (43%)	3
Kindler Epidermolysis Bullosa	11	7	5.0	Integument (47%)	4
Leigh Syndrome	14	7	5.0	Nervous System (47%)	1
Necrotizing Enterocolitis	13	7	5.0	Digestive (47%)	1
Serotonin Syndrome	15	7	5.0	Nervous System (47%)	0
Toxoplasmosis	12	7	5.0	Nervous System (47%)	3
Otofacial Neurodevelopmental Syndrome	20	7	5.0	Nervous System (41%)	1
FAS-related Autoimmune Lymphoproliferative Syndrome	10	7	5.0	Immune (38%)	9
Opsismodysplasia	28	9	5.0	Musculoskeletal (45%)	10
deafness-lymphedema-leukemia syndrome	12	7	5.0	Immune (35%)	7
Autosomal Dominant Robinow Syndrome 1	34	9	5.0	Head and Neck (46%)	7
Inborn Disorder of Cobalamin Metabolism and Transport	12	6	5.0	Metabolism (29%)	2
Schwartz-Jampel Syndrome	24	9	5.0	Musculoskeletal (48%)	3
Severe Combined Immunodeficiency Due To CORO1A Deficiency	31	8	5.0	Immune (43%)	19
Free Sialic Acid Storage Disease	18	9	5.0	Nervous System (55%)	3
Sanfilippo syndrome	18	7	5.0	Nervous System (39%)	0
Ageing Associated Decline in Intrinsic Capacity	10	6	5.0	Nervous System (40%)	0
BRAF-Mutant Papillary Thyroid Cancer	3	5	5.0	Cardiovascular (20%)	2
Chikungunya	4	5	5.0	Cardiovascular (20%)	1
Classic Hodgkin Lymphoma	4	5	5.0	Cardiovascular (20%)	1
Clear Cell Sarcoma	4	5	5.0	Cardiovascular (20%)	1
Combined Oxidative Phosphorylation Defect Type 24	9	6	5.0	Nervous System (40%)	1
Dihydropyrimidine Dehydrogenase Deficiency	8	6	5.0	Nervous System (40%)	2
Embryonal Rhabdomyosarcoma	4	5	5.0	Eye (20%)	1
Fetal Alcohol Spectrum Disorder	8	6	5.0	Head and Neck (40%)	1
Heparin-Induced Thrombocytopenia	7	6	5.0	Blood (40%)	2
Hodgkin Lymphoma	4	5	5.0	Cardiovascular (20%)	1
Lambert-Eaton Myasthenic Syndrome	8	6	5.0	Nervous System (40%)	2
Lymphoma	4	5	5.0	Cardiovascular (20%)	1
Malignant Atrophic Papulosis	6	6	5.0	Cardiovascular (40%)	4
Mitochondrial Complex I Deficiency, Nuclear Type 39	5	5	5.0	Blood (20%)	0
Postcricoid Region Cancer	4	5	5.0	Blood (20%)	1
RET Fusion-Positive Thyroid Cancer	3	5	5.0	Cardiovascular (20%)	2
X-linked Chondrodysplasia Punctata 1	8	6	5.0	Musculoskeletal (40%)	2
KCNH1 Associated Disorder	23	6	5.0	Musculoskeletal (29%)	5
Congenital Factor X Deficiency	14	8	5.0	Blood (48%)	8
Atelosteogenesis Type III	16	6	5.0	Musculoskeletal (38%)	4
Immunodeficiency 81	16	8	5.0	Immune (38%)	10
RUNX1 Familial Platelet Disorder with Associated Myeloid Malignancy	10	7	5.0	Blood (45%)	7
KMT2B-Related Dystonia	27	10	5.0	Nervous System (56%)	5
POLR-Related Leukodystrophy	20	8	5.0	Nervous System (50%)	4
Congenital Myasthenic Syndrome	21	7	5.0	Musculoskeletal (37%)	6
Ferguson-Bonni neurodevelopmental syndrome	15	6	5.0	Head and Neck (33%)	2
Kosaki_Overgrowth_Syndrome	15	6	4.9	Musculoskeletal (35%)	2
Diamond-Blackfan Anemia 14 with Mandibulofacial Dysostosis	13	6	4.9	Blood (27%)	2
Craniofacial-Deafness-Hand Syndrome	19	7	4.9	Head and Neck (38%)	7
Mitochondrial Complex I Deficiency, Nuclear Type 11	18	6	4.9	Nervous System (39%)	0
Alpha-1 Antitrypsin Deficiency	9	6	4.9	Digestive (36%)	2
Autosomal Dominant Robinow Syndrome 2	8	6	4.9	Musculoskeletal (36%)	3
NRAS Mutant Melanoma	6	6	4.9	Neoplasm (36%)	5
Pulmonary_hypertension	10	6	4.9	Cardiovascular (36%)	1
Tyrosinemia Type II	8	6	4.9	Nervous System (36%)	3
Bronchiectasis and Nasal Polyposis	10	6	4.9	Respiratory (36%)	2
Congenital Bile Acid Synthesis Defect 5	13	6	4.9	Digestive (41%)	3
Marinesco-Sjogren Syndrome	13	6	4.9	Nervous System (36%)	1
Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain Atrophy	35	10	4.9	Nervous System (54%)	3
Developmental and Epileptic Encephalopathy 14	17	8	4.9	Nervous System (52%)	2
Mitochondrial Complex I Deficiency, Nuclear Type 26	20	8	4.9	Nervous System (52%)	1
Infantile Hypercalcemia	16	7	4.9	Genitourinary (37%)	3
CYFIP2-Related Developmental and Epileptic Encephalopathy	20	8	4.9	Nervous System (52%)	4
Pseudopseudohypoparathyroidism	13	6	4.9	Musculoskeletal (33%)	5
Alport Syndrome	11	6	4.9	Genitourinary (38%)	2
Autoimmune Polyendocrinopathy	9	6	4.9	Endocrine (38%)	4
Giant Cell Hepatitis With Autoimmune Hemolytic Anemia	8	6	4.9	Digestive (38%)	4
Immunodeficiency 14B, Autosomal Recessive	6	6	4.9	Immune (38%)	5
LRBA Deficiency	7	6	4.9	Immune (38%)	3
Nerve Agent Poisoning	13	6	4.9	Nervous System (38%)	0
Arginase Deficiency	23	8	4.9	Nervous System (52%)	7
TANGO2 Deficiency Disorder	26	7	4.9	Nervous System (43%)	2
COX4I1-Related COX Deficiency	11	6	4.9	Nervous System (42%)	1
DEF6 Deficiency	6	6	4.9	Immune (42%)	5
Melorheostosis	10	6	4.9	Musculoskeletal (42%)	2
Nonimmune Chronic Idiopathic Neutropenia of Adults	7	6	4.9	Immune (42%)	4
Optic Atrophy 3	11	6	4.9	Eye (42%)	1
Trisomy X	11	6	4.9	Nervous System (42%)	1
Warburg-Cinotti Syndrome	13	6	4.9	Musculoskeletal (33%)	2
Complement Component 4A Deficiency	6	6	4.9	Immune (44%)	3
ECHS1 Deficiency	9	6	4.9	Nervous System (44%)	0
Encephalocraniocutaneous Lipomatosis	6	6	4.9	Nervous System (44%)	2
Familial Hypocalciuric Hypercalcemia 1	6	6	4.9	Metabolism (44%)	3
Hartsfield Syndrome	7	6	4.9	Nervous System (44%)	2
Mycetoma	8	6	4.9	Integument (44%)	1
Thymic Carcinoma	7	6	4.9	Respiratory (44%)	2
Gastrointestinal Lymphoma	11	7	4.9	Digestive (47%)	5
SPTBN4-Related Neurodevelopmental Disorder	22	8	4.8	Nervous System (48%)	1
DTYMK-Related Neurodegeneration	18	8	4.8	Nervous System (50%)	3
Constitutional Mismatch Repair Deficiency	11	6	4.8	Neoplasm (42%)	7
SOCS1 Haploinsufficiency	8	7	4.8	Immune (44%)	6
Severe Combined Immunodeficiency Due To CARD11 Deficiency	7	6	4.8	Immune (43%)	3
UGGT1-congenital disorder of glycosylation	12	6	4.8	Nervous System (43%)	1
UGP2-related developmental and epileptic encephalopathy 83	16	6	4.8	Head and Neck (30%)	3
Uterine Leiomyoma	11	6	4.8	Genitourinary (43%)	3
Fragile X-Associated Primary Ovarian Insufficiency	11	6	4.8	Genitourinary (36%)	3
IHH-Related Polysyndactyly	9	6	4.8	Musculoskeletal (36%)	5
Rhizomelic Chondrodysplasia Punctata, Plasmalogen-Synthesis Defect	9	6	4.8	Musculoskeletal (36%)	3
Transverse Myelitis	10	6	4.8	Nervous System (36%)	4
Adult-Onset Proximal Spinal Muscular Atrophy, Autosomal Dominant	14	7	4.8	Musculoskeletal (35%)	3
Hypomyelinating Leukodystrophy 14	27	8	4.8	Nervous System (52%)	5
Immunodeficiency 88	15	7	4.8	Immune (44%)	10
Citrin Deficiency	17	6	4.8	Metabolism (35%)	3
Temple-Baraitser Syndrome	11	5	4.8	Nervous System (31%)	2
Vogt-Koyanagi-Harada Disease	12	5	4.8	Eye (31%)	1
Snijders Blok-Campeau Syndrome	21	6	4.8	Nervous System (33%)	3
Hyperostosis Cranialis Interna	11	5	4.8	Head and Neck (27%)	4
Pfeiffer Syndrome	11	5	4.8	Head and Neck (27%)	4
Methylmalonyl-CoA Epimerase Deficiency	13	6	4.8	Metabolism (41%)	4
CDK19-Related Disorder	45	7	4.8	Nervous System (43%)	3
Aicardi-Goutieres Syndrome	30	9	4.8	Nervous System (51%)	7
Anencephaly	5	5	4.8	Nervous System (33%)	1
Breast Carcinoma	5	5	4.8	Constitutional (33%)	1
COA3-Related COX Deficiency	5	5	4.8	Growth (33%)	1
Cannabis Hyperemesis Syndrome	5	5	4.8	Digestive (33%)	1
Chromosome 16p12.2-p11.2 Deletion Syndrome	5	5	4.8	Nervous System (33%)	1
Chronic Neurovisceral Acid Sphingomyelinase Deficiency	4	5	4.8	Digestive (33%)	1
Colobomatous Microphthalmia-Rhizomelic Dysplasia Syndrome	4	5	4.8	Eye (33%)	1
Combined Saposin Deficiency	4	5	4.8	Nervous System (33%)	1
Congenital Tufting Enteropathy	5	5	4.8	Digestive (33%)	1
Cystic echinococcosis	5	5	4.8	Integument (33%)	1
Dengue	5	5	4.8	Blood (33%)	1
Dermatitis Herpetiformis	4	5	4.8	Integument (33%)	2
Gas Gangrene	6	5	4.8	Metabolism (33%)	0
Medulloblastoma	5	5	4.8	Nervous System (33%)	1
Monoclonal Mast Cell Activation Syndrome	5	5	4.8	Digestive (33%)	1
Neuromyelitis Optica Spectrum Disorder with Anti-AQP4 Antibodies	4	5	4.8	Immune (33%)	2
Ochoa syndrome	15	7	4.8	Genitourinary (50%)	3
Osteosarcoma	4	5	4.8	Musculoskeletal (33%)	2
Rhabdoid Tumor	5	5	4.8	Digestive (33%)	1
Septicemic Plague	4	5	4.8	Blood (33%)	1
Spotted fever rickettsiosis	5	5	4.8	Integument (33%)	1
X-Linked Infantile Spinal Muscular Atrophy	16	6	4.8	Musculoskeletal (31%)	0
Immunodeficiency 19	15	8	4.8	Immune (48%)	8
Arsenic Poisoning	7	5	4.8	Cardiovascular (25%)	1
CYB561-Related Orthostatic Hypotension	6	5	4.8	Cardiovascular (25%)	2
Complex Regional Pain Syndrome Type 1	8	5	4.8	Constitutional (25%)	0
Erysipelothrix Rhusiopathiae Infectious Disease	6	5	4.8	Cardiovascular (25%)	2
Hemolytic Disease of the Fetus and Newborn	7	5	4.8	Blood (25%)	1
MMADHC-related Disorder of Cobalamin Metabolism, cblD Type	6	5	4.8	Genitourinary (25%)	2
Secondary Erythromelalgia	6	5	4.8	Cardiovascular (25%)	2
Subcutaneous Panniculitis-like T-cell Lymphoma	6	5	4.8	Blood (25%)	2
Wolman Disease	13	7	4.8	Digestive (50%)	2
CANVAS	36	10	4.7	Nervous System (56%)	3
Embryonal Carcinoma	7	5	4.7	Neoplasm (30%)	3
Sea-Blue Histiocyte Syndrome	6	5	4.7	Immune (30%)	3
Amyotrophic Lateral Sclerosis 27, Juvenile	21	7	4.7	Musculoskeletal (35%)	5
Neurodevelopmental Disorder with Neuromuscular and Skeletal Abnormalities	25	8	4.7	Nervous System (46%)	2
Steel Syndrome	28	8	4.7	Musculoskeletal (39%)	12
Glanzmann Thrombasthenia	12	7	4.7	Blood (50%)	7
IFAP Syndrome 2	14	6	4.7	Eye (44%)	3
Combined Oxidative Phosphorylation Defect Type 13	25	9	4.7	Nervous System (55%)	3
Appendiceal Neoplasm	4	5	4.7	Digestive (29%)	2
BRAF V600E-Mutant Colorectal Cancer	5	5	4.7	Constitutional (29%)	2
Congenital Central Hypoventilation Syndrome	5	5	4.7	Nervous System (29%)	2
Familial Glucocorticoid Deficiency	7	5	4.7	Endocrine (29%)	0
Glutathione Synthetase Deficiency	6	5	4.7	Metabolism (29%)	1
Harderoporphyria	4	5	4.7	Digestive (29%)	2
Obesity	7	5	4.7	Constitutional (29%)	0
Pearson syndrome	6	5	4.7	Blood (29%)	1
Pyomyositis	6	5	4.7	Immune (29%)	1
Refeeding Syndrome	7	5	4.7	Cardiovascular (29%)	0
SCO2-Related Fatal Infantile Cardioencephalomyopathy	7	5	4.7	Musculoskeletal (29%)	0
Thymoma	6	5	4.7	Blood (29%)	1
Immunodeficiency 15A	13	7	4.7	Immune (46%)	9
Anthracycline-Induced Cardiomyopathy	10	5	4.7	Cardiovascular (27%)	1
Scurvy	6	5	4.7	Blood (27%)	3
familial hyperaldosteronism	8	5	4.7	Cardiovascular (27%)	2
CDKL5 Deficiency Disorder	37	9	4.7	Nervous System (55%)	4
Crouzon Syndrome	14	5	4.7	Eye (31%)	2
Long COVID	23	6	4.7	Nervous System (44%)	2
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome	24	6	4.7	Musculoskeletal (36%)	6
T-cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy	11	6	4.7	Immune (33%)	3
Sarcoglycanopathy	12	6	4.7	Musculoskeletal (44%)	4
KIF1A-Related Neurological Disorder	36	9	4.7	Nervous System (55%)	5
Hereditary Spastic Paraplegia 46	16	7	4.7	Nervous System (50%)	4
Carvajal Syndrome	8	6	4.7	Cardiovascular (46%)	3
Congenital Heart Defects, Multiple Types, 2	11	6	4.7	Cardiovascular (46%)	0
Congenital Laryngomalacia	10	6	4.7	Respiratory (46%)	1
Hereditary Pancreatitis	6	6	4.7	Digestive (46%)	5
Kasabach-Merritt Syndrome	8	6	4.7	Blood (46%)	2
Lymphogranuloma Venereum	8	6	4.7	Digestive (46%)	2
Obstructive Sleep Apnea	8	6	4.7	Nervous System (46%)	1
Pancreatic Agenesis	10	6	4.7	Digestive (46%)	1
Primary Pigmented Nodular Adrenocortical Disease	10	6	4.7	Endocrine (46%)	1
SUFU-related nevoid basal cell carcinoma syndrome	5	6	4.7	Neoplasm (46%)	5
Immunodeficiency 62	16	7	4.7	Immune (41%)	13
Axenfeld-Rieger_syndrome	12	6	4.7	Eye (42%)	0
Combined Immunodeficiency Due to CTPS1 Deficiency	7	6	4.7	Immune (42%)	3
Intracranial berry aneurysm	9	6	4.7	Nervous System (42%)	2
pseudotumor cerebri	10	6	4.7	Eye (42%)	2
Congenital Zika Syndrome	15	7	4.7	Nervous System (47%)	3
PRR12-Related Neuroocular Syndrome	27	7	4.7	Eye (45%)	1
SAPHO Syndrome	11	6	4.7	Immune (33%)	7
Cyclic Hematopoiesis	8	6	4.6	Immune (43%)	6
DONSON-Related Microcephalic Primordial Dwarfism	9	6	4.6	Musculoskeletal (43%)	4
IFNAR2 Deficiency	10	6	4.6	Immune (43%)	4
Multiple Mitochondrial Dysfunctions Syndrome 5	13	6	4.6	Nervous System (43%)	1
Methylmalonate Semialdehyde Dehydrogenase Deficiency	12	6	4.6	Metabolism (35%)	5
Immunodeficiency 64	13	6	4.6	Blood (35%)	9
Hereditary von Willebrand Disease	9	7	4.6	Blood (50%)	6
Brachyolmia-Amelogenesis Imperfecta Syndrome	34	7	4.6	Cardiovascular (32%)	7
3-Hydroxyacyl-CoA Dehydrogenase Deficiency	11	6	4.6	Metabolism (40%)	3
Spinal Muscular Atrophy with Respiratory Distress Type 1	13	6	4.6	Nervous System (40%)	2
Bethlem myopathy	34	8	4.6	Musculoskeletal (52%)	9
Renal Coloboma Syndrome	20	7	4.6	Genitourinary (46%)	2
Autoimmune Pancreatitis	11	7	4.6	Digestive (50%)	5
Odontochondrodysplasia	12	7	4.6	Musculoskeletal (50%)	4
Peeling Skin Syndrome	11	7	4.6	Integument (50%)	3
Peroxisome Biogenesis Disorder 6B	16	7	4.6	Nervous System (50%)	0
Adenovirus Respiratory Infection	9	6	4.6	Respiratory (46%)	2
Argininosuccinic Aciduria	13	6	4.6	Nervous System (46%)	0
Duane Retraction Syndrome 3 With Or Without Deafness	12	5	4.6	Eye (31%)	1
GM1 Gangliosidosis Type 2	12	6	4.6	Nervous System (46%)	1
Spina Bifida Cystica	11	6	4.6	Nervous System (46%)	2
Vitiligo	9	6	4.6	Integument (46%)	2
Congestive Splenomegaly	9	5	4.6	Blood (33%)	4
RARB-related syndromic microphthalmia	22	7	4.6	Nervous System (44%)	1
Campylobacter fetus Infectious Disease	7	5	4.6	Immune (33%)	2
GNPTG-Mucolipidosis	9	5	4.6	Nervous System (33%)	0
Muenke Syndrome	6	5	4.6	Musculoskeletal (33%)	3
Neurofibroma	5	5	4.6	Neoplasm (33%)	2
ORAI1 Deficiency	6	5	4.6	Immune (33%)	3
Perivascular Epithelioid Cell Neoplasm	6	5	4.6	Respiratory (33%)	3
Psoriasis 14, Pustular	6	5	4.6	Integument (33%)	3
Renal Tubular Acidosis, Distal, 3, With or Without Sensorineural Hearing Loss	9	5	4.6	Genitourinary (33%)	0
Thallium Poisoning	8	5	4.6	Digestive (33%)	1
GOLGA2-Related Golgin A2 Deficiency	11	6	4.6	Nervous System (38%)	1
Charcot-Marie-Tooth disease, axonal, type 2T	33	7	4.6	Nervous System (42%)	8
3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency	17	6	4.6	Metabolism (39%)	1
Aggressive NK-cell Leukemia	9	5	4.6	Blood (33%)	2
Congenital Cranial Dysinnervation Disorder with Absent Corneal Reflex and Developmental Delay	12	5	4.6	Ear (33%)	0
Crouzon Syndrome with Acanthosis Nigricans	10	5	4.6	Head and Neck (33%)	2
Glycogen Storage Disease Type VI	11	5	4.6	Metabolism (33%)	1
IMAGe Syndrome	11	5	4.6	Genitourinary (33%)	1
Lowe syndrome	10	5	4.6	Genitourinary (33%)	2
Multiple System Atrophy	10	7	4.6	Nervous System (54%)	3
Charcot-Marie-Tooth Disease Type 4B3	16	7	4.5	Nervous System (50%)	3
Osteoglophonic Dysplasia	25	7	4.5	Head and Neck (41%)	6
Spondyloepiphyseal Dysplasia, Nishimura Type	15	6	4.5	Musculoskeletal (45%)	5
Endomyocardial Fibrosis	15	6	4.5	Cardiovascular (47%)	3
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2	15	7	4.5	Musculoskeletal (37%)	3
MBD5 Haploinsufficiency Syndrome	23	7	4.5	Nervous System (48%)	3
MICPCH Syndrome	27	7	4.5	Nervous System (50%)	4
Cerebellar Ataxia-Hypogonadism Syndrome	23	6	4.5	Nervous System (42%)	3
Canavan disease	21	6	4.5	Nervous System (39%)	2
Combined Oxidative Phosphorylation Deficiency 51	16	7	4.5	Nervous System (53%)	1
Developmental And Epileptic Encephalopathy 80	16	7	4.5	Nervous System (53%)	1
Calvarial Doughnut Lesions-Bone Fragility Syndrome	11	7	4.5	Musculoskeletal (53%)	3
Central Core Myopathy	14	7	4.5	Musculoskeletal (53%)	1
Hypomyelinating Leukodystrophy 7	13	7	4.5	Nervous System (53%)	2
Li-Fraumeni Syndrome	8	7	4.5	Neoplasm (53%)	6
Deafness Dystonia and Cerebral Hypomyelination	20	8	4.5	Nervous System (56%)	2
Charcot-Marie-Tooth Disease Type 1E	9	5	4.5	Musculoskeletal (30%)	1
MITF Waardenburg-Tietz Spectrum	9	5	4.5	Eye (30%)	1
Paroxysmal Extreme Pain Disorder	8	5	4.5	Constitutional (30%)	2
Renal Tubular Acidosis, Distal, 2, With Progressive Sensorineural Hearing Loss	9	5	4.5	Genitourinary (30%)	1
SHH Holoprosencephaly Spectrum	30	6	4.5	Nervous System (44%)	5
Angelman Syndrome	35	7	4.5	Nervous System (53%)	2
Glomerulonephritis	14	6	4.5	Genitourinary (42%)	4
Osteogenesis Imperfecta Type II	18	7	4.5	Musculoskeletal (52%)	3
Charcot-Marie-Tooth Disease Dominant Intermediate E	10	5	4.5	Genitourinary (27%)	1
Carbamoyl Phosphate Synthetase I Deficiency	17	7	4.5	Nervous System (48%)	3
Cleidocranial Dysplasia	23	8	4.5	Musculoskeletal (39%)	10
Neurodevelopmental Disorder With Absent Speech and Movement and Behavioral Abnormalities	24	8	4.5	Nervous System (56%)	1
Acquired Angioedema	5	6	4.5	Metabolism (50%)	4
POT1 Tumor Predisposition Syndrome	5	6	4.5	Neoplasm (50%)	4
Paget Disease of Bone	7	6	4.5	Musculoskeletal (50%)	3
FGFR2-Related Bent Bone Dysplasia	13	6	4.5	Musculoskeletal (47%)	4
Aortic Valve Stenosis	19	8	4.5	Cardiovascular (54%)	6
O'Donnell-Luria-Rodan Syndrome	40	8	4.5	Nervous System (48%)	5
Alveolar capillary dysplasia with misalignment of pulmonary veins	6	5	4.5	Cardiovascular (38%)	2
Aromatase Excess Syndrome	7	5	4.5	Endocrine (38%)	1
Chromophobe Renal Cell Carcinoma	5	5	4.5	Genitourinary (38%)	3
Chronic Kidney Disease	7	5	4.5	Metabolism (38%)	1
Cleft Lip/Palate	7	5	4.5	Head and Neck (38%)	1
Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome	7	5	4.5	Eye (38%)	1
Drug- or Toxin-Induced Pulmonary Arterial Hypertension	6	5	4.5	Cardiovascular (38%)	2
Glomus Tumor	7	5	4.5	Constitutional (38%)	1
Hypoplasminogenemia	7	5	4.5	Head and Neck (38%)	1
Invasive Candidiasis	5	5	4.5	Immune (38%)	2
Keipert syndrome	7	5	4.5	Nervous System (38%)	1
Leprosy	5	5	4.5	Integument (38%)	2
Migraine	7	5	4.5	Nervous System (38%)	1
Myeloproliferative Neoplasm, Unclassifiable	5	5	4.5	Blood (38%)	2
Neurohypophyseal Diabetes Insipidus	7	5	4.5	Genitourinary (38%)	1
Ovarian High-Grade Serous Carcinoma	6	5	4.5	Digestive (38%)	2
Rh Deficiency Syndrome	5	5	4.5	Blood (38%)	2
Sandhoff Disease	6	5	4.5	Nervous System (38%)	1
Short Stature, Dauber-Argente Type	6	5	4.5	Musculoskeletal (38%)	1
Tay-Sachs Disease AB Variant	6	5	4.5	Nervous System (38%)	1
Yolk Sac Tumor	5	5	4.5	Genitourinary (38%)	3
Acute Ackee Fruit Intoxication	14	5	4.4	Metabolism (33%)	1
Pasteurellosis	10	5	4.4	Immune (33%)	5
Marden-Walker Syndrome	15	6	4.4	Musculoskeletal (37%)	3
Chromosome 3q29 Microduplication Syndrome	12	6	4.4	Nervous System (47%)	2
Ehlers-Danlos Syndrome, COL5A1-related	12	6	4.4	Integument (47%)	2
McLeod Neuroacanthocytosis Syndrome	14	6	4.4	Nervous System (47%)	1
Uveal Coloboma-Cleft Lip and Palate-Intellectual Disability Syndrome	14	6	4.4	Eye (47%)	1
Segmental arterial mediolysis	9	6	4.4	Cardiovascular (46%)	4
TMEM199-CDG	12	6	4.4	Metabolism (46%)	1
Vertebral Artery Insufficiency	10	6	4.4	Nervous System (46%)	3
Weill-Marchesani syndrome	12	6	4.4	Eye (46%)	1
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	26	7	4.4	Musculoskeletal (41%)	1
3-hydroxyisobutyryl-CoA hydrolase deficiency	16	6	4.4	Nervous System (47%)	2
Hypochondrogenesis	17	7	4.4	Musculoskeletal (55%)	5
Medullary Sponge Kidney	12	7	4.4	Genitourinary (50%)	6
Amyotrophic Lateral Sclerosis Type 1	16	7	4.4	Nervous System (47%)	3
Hepatitis B	10	5	4.4	Digestive (38%)	3
16p11.2 Deletion Syndrome	25	7	4.4	Nervous System (52%)	2
Spondyloepimetaphyseal Dysplasia Bieganski Type	14	6	4.4	Nervous System (41%)	2
PUM1-Associated Developmental Disability, Ataxia, and Seizure Syndrome	23	7	4.4	Nervous System (52%)	1
Chronic Pancreatitis	5	5	4.4	Digestive (43%)	2
Cutaneous larva migrans	5	5	4.4	Integument (43%)	2
D-Bifunctional Protein Deficiency	7	5	4.4	Nervous System (43%)	0
Esophageal Carcinoma	4	5	4.4	Digestive (43%)	2
Gastroesophageal Reflux Disease	5	5	4.4	Digestive (43%)	2
Gastrointestinal Stromal Tumor	5	5	4.4	Digestive (43%)	1
Hearing Loss Autosomal Dominant 34 With or Without Inflammation	6	5	4.4	Ear (43%)	1
IgA Pemphigus	8	6	4.4	Integument (43%)	4
Leukocyte Adhesion Deficiency Type II	5	5	4.4	Immune (43%)	2
Mitochondrial Complex I Deficiency, Nuclear Type 22	6	5	4.4	Nervous System (43%)	1
Osteogenesis Imperfecta Type XII	6	5	4.4	Musculoskeletal (43%)	1
Osteogenesis Imperfecta Type XVI	6	5	4.4	Musculoskeletal (43%)	1
Osteootohepatoenteric Syndrome	7	5	4.4	Digestive (43%)	0
PAX3-Related Waardenburg Syndrome	7	5	4.4	Integument (43%)	0
Peripartum Cardiomyopathy	7	5	4.4	Cardiovascular (43%)	0
Reversible Infantile Cytochrome c Oxidase Deficiency	6	5	4.4	Musculoskeletal (43%)	1
Southern Tick-Associated Rash Illness	6	5	4.4	Constitutional (43%)	1
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	6	5	4.4	Genitourinary (43%)	1
Cerebrotendinous xanthomatosis	48	8	4.4	Nervous System (54%)	9
Bone Giant Cell Tumor	9	6	4.4	Musculoskeletal (50%)	3
DOCK2 Deficiency	8	6	4.4	Immune (50%)	2
Jervell and Lange-Nielsen Syndrome 2	11	6	4.4	Cardiovascular (50%)	1
Multiminicore Disease	12	6	4.4	Musculoskeletal (50%)	0
Myeloperoxidase Deficiency	7	6	4.4	Immune (50%)	5
Pacak-Zhuang syndrome	6	5	4.4	Nervous System (33%)	3
Hereditary methemoglobinemia	13	6	4.4	Nervous System (50%)	2
Pelvic Inflammatory Disease	13	6	4.4	Genitourinary (50%)	3
Hypobetalipoproteinemia	18	6	4.4	Metabolism (42%)	1
Perrault Syndrome	20	6	4.4	Genitourinary (38%)	1
Abdominal Aortic Aneurysm	7	5	4.4	Cardiovascular (40%)	3
Craniometadiaphyseal Osteosclerosis with Hip Dysplasia	8	5	4.4	Musculoskeletal (40%)	2
Rhizomelic Chondrodysplasia Punctata Type 1	8	5	4.4	Musculoskeletal (40%)	1
Acrocallosal Syndrome	16	5	4.3	Musculoskeletal (30%)	6
Chronic Myeloid Leukemia, BCR-ABL1 Positive	7	5	4.3	Blood (36%)	3
Dry Eye Disease	7	6	4.3	Eye (50%)	4
Fanconi-Bickel Syndrome	11	6	4.3	Metabolism (50%)	3
Frank-Ter Haar Syndrome	10	5	4.3	Musculoskeletal (36%)	1
Glycogen Storage Disease Type 0b	8	5	4.3	Cardiovascular (36%)	3
HSD10 Mitochondrial Disease	13	6	4.3	Nervous System (50%)	1
Hemophilia A	7	5	4.3	Blood (36%)	2
Hypercatabolic Hypoproteinemia	7	5	4.3	Immune (36%)	2
Sturge-Weber Syndrome	8	5	4.3	Nervous System (36%)	2
Susac Syndrome	9	5	4.3	Nervous System (36%)	1
WFS1-Related Disorder	10	5	4.3	Ear (42%)	2
Nipah Virus Disease	14	6	4.3	Nervous System (47%)	3
Chronic Recurrent Multifocal Osteomyelitis	5	5	4.3	Immune (33%)	4
Erythropoietic Protoporphyria	8	5	4.3	Digestive (33%)	1
Hepatic veno-occlusive disease-immunodeficiency syndrome	6	5	4.3	Digestive (33%)	1
Intellectual Disability, Anterior Maxillary Protrusion, and Strabismus	8	5	4.3	Head and Neck (33%)	1
Madras Motor Neuron Disease	7	5	4.3	Musculoskeletal (33%)	2
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive 4	7	5	4.3	Musculoskeletal (33%)	1
GPD1 Deficiency	16	6	4.3	Digestive (40%)	3
Reticular Dysgenesis	14	7	4.3	Blood (38%)	6
NAD(P)HX Dehydratase Deficiency	13	5	4.3	Nervous System (40%)	2
CHST3-Related Skeletal Dysplasia	29	7	4.3	Musculoskeletal (48%)	10
Alopecia-Intellectual Disability Syndrome 4	15	5	4.3	Nervous System (42%)	3
Intellectual Developmental Disorder Autosomal Recessive 67	16	7	4.3	Nervous System (56%)	1
Brachyolmia	19	7	4.3	Musculoskeletal (52%)	8
Charcot-Marie-Tooth disease type 4D	28	8	4.3	Nervous System (52%)	5
Hajdu-Cheney Syndrome	11	6	4.3	Musculoskeletal (40%)	4
ACTA1-Related Nemaline Myopathy	14	6	4.3	Musculoskeletal (50%)	4
Intellectual Disability, Autosomal Recessive 43	16	6	4.3	Nervous System (45%)	3
Pycnodysostosis	21	7	4.3	Head and Neck (38%)	8
Salivary Gland Polymorphous Adenocarcinoma	5	5	4.3	Digestive (29%)	5
Mitochondrial DNA Depletion Syndrome 7	15	7	4.3	Nervous System (56%)	1
Cerebral Palsy	24	8	4.3	Nervous System (52%)	5
ARHGDIA-Related Steroid-Resistant Nephrotic Syndrome	16	6	4.2	Genitourinary (47%)	1
Immunodeficiency 73B	9	6	4.2	Immune (47%)	6
Glycogen Storage Disease Due To Phosphoglycerate Mutase Deficiency	9	5	4.2	Metabolism (33%)	3
Multiple Endocrine Neoplasia Type 1	6	5	4.2	Endocrine (33%)	4
Neonatal Lupus Erythematosus	11	5	4.2	Blood (33%)	1
Senior-Loken Syndrome	12	5	4.2	Eye (33%)	0
UBA5-Related Developmental and Epileptic Encephalopathy	19	8	4.2	Nervous System (56%)	3
Periodic Fever, Immunodeficiency, and Thrombocytopenia Syndrome	12	6	4.2	Immune (44%)	6
Congenital Fibrosis of the Extraocular Muscles	19	5	4.2	Eye (35%)	6
SARS1-Related Neurodevelopmental Disorder	16	7	4.2	Nervous System (53%)	2
GNE Myopathy	13	6	4.2	Musculoskeletal (50%)	3
Immunodeficiency 101 (Varicella Zoster Virus-Specific)	11	6	4.2	Nervous System (50%)	5
Hereditary Fructose Intolerance	15	6	4.2	Digestive (47%)	4
Kallmann Syndrome	11	5	4.2	Genitourinary (43%)	3
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete ISG15 Deficiency	12	5	4.2	Immune (43%)	2
Mitochondrial Complex I Deficiency, Nuclear Type 17	20	7	4.2	Nervous System (55%)	2
Diffuse Nonepidermolytic Palmoplantar Keratoderma	15	6	4.2	Integument (48%)	8
Bazex-Dupre-Christol Syndrome	17	6	4.2	Integument (52%)	6
Autosomal Recessive Limb-Girdle Muscular Dystrophy	10	6	4.2	Musculoskeletal (50%)	4
Charcot-Marie-Tooth Disease Type 4C	14	6	4.2	Nervous System (50%)	0
UNC13A-Related Congenital NDD with Epilepsy	12	6	4.2	Nervous System (50%)	1
ALPK3-Related Hypertrophic Cardiomyopathy	34	9	4.2	Cardiovascular (60%)	3
Autosomal dominant Charcot-Marie-Tooth disease type 2K	15	6	4.2	Musculoskeletal (38%)	1
Cori Forbes Disease	9	5	4.2	Metabolism (44%)	0
Esophageal Adenocarcinoma	6	5	4.2	Digestive (44%)	2
Familial_Episodic_Pain_Syndrome_With_Predominantly_Lower_Limb_Involvement	7	5	4.2	Constitutional (44%)	2
Glycogen Storage Disease XV	8	5	4.2	Musculoskeletal (44%)	1
MT-ATP6/MT-ATP8-Related Infantile Hypertrophic Cardiomyopathy	9	5	4.2	Cardiovascular (44%)	0
Non-functional Pancreatic Neuroendocrine Tumor	5	5	4.2	Digestive (44%)	4
Paralytic Poliomyelitis	7	5	4.2	Nervous System (44%)	2
Proteasome-Associated Autoinflammatory Syndrome	7	5	4.2	Musculoskeletal (44%)	2
Pyrimidine 5-Nucleotidase Deficiency	7	5	4.2	Blood (44%)	1
Tetanus	6	5	4.2	Musculoskeletal (44%)	3
Type B Insulin Resistance Syndrome	8	5	4.2	Metabolism (44%)	1
X-Linked Nephrogenic Diabetes Insipidus	17	5	4.2	Genitourinary (44%)	1
CAMLG-CDG	23	7	4.2	Nervous System (52%)	3
Eiken Syndrome	14	6	4.2	Musculoskeletal (50%)	4
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity	15	6	4.2	Nervous System (53%)	2
Acute Flaccid Myelitis	11	5	4.2	Nervous System (38%)	5
Glycogen Storage Disease Type VII	13	5	4.2	Musculoskeletal (38%)	3
PHF21A Related Neurodevelopmental Disorder	19	5	4.2	Nervous System (41%)	3
Hereditary Sensory and Autonomic Neuropathy Type 2	10	5	4.2	Nervous System (42%)	2
Hidradenitis Suppurativa	9	5	4.2	Integument (42%)	3
Bacterial meningitis	9	6	4.1	Nervous System (55%)	2
Gastric Cancer H. pylori Associated	7	6	4.1	Digestive (55%)	3
AFG2A-Related Encephalopathy	20	7	4.1	Nervous System (54%)	3
EAST Syndrome	9	5	4.1	Nervous System (40%)	1
Multisystemic smooth muscle dysfunction syndrome	8	5	4.1	Cardiovascular (40%)	2
Oculoglandular Tularemia	5	5	4.1	Immune (40%)	3
Spinal Cord Ischemia	8	5	4.1	Nervous System (40%)	2
IKK2 Deficiency	7	5	4.1	Immune (46%)	2
Sclerosing Cholangitis	10	5	4.1	Digestive (46%)	3
Sjogren-Larsson Syndrome	11	5	4.1	Nervous System (46%)	2
Tay-Sachs Disease	28	7	4.1	Nervous System (50%)	5
Osteogenesis Imperfecta Type VII	12	5	4.1	Musculoskeletal (47%)	4
Autosomal Recessive Ataxia Beauce Type	33	7	4.1	Nervous System (51%)	2
DICER1 Tumor Predisposition Syndrome	6	5	4.1	Neoplasm (46%)	5
IgG4-Related Sclerosing Cholangitis	7	5	4.1	Digestive (46%)	4
Psoriatic Arthritis	8	5	4.1	Musculoskeletal (46%)	3
Acquired Epidermolysis Bullosa	12	6	4.1	Integument (53%)	3
Carbon Monoxide Poisoning	14	6	4.1	Nervous System (53%)	1
HNRNPU-Related Developmental and Epileptic Encephalopathy	13	6	4.1	Nervous System (53%)	1
Okur-Chung Neurodevelopmental Syndrome	12	6	4.1	Nervous System (53%)	2
Selective IgA Deficiency	9	6	4.1	Immune (53%)	4
Superior Mesenteric Artery Syndrome	13	6	4.1	Digestive (53%)	2
Emery-Dreifuss Muscular Dystrophy	16	6	4.1	Musculoskeletal (40%)	4
Idiopathic Pulmonary Arterial Hypertension	10	5	4.1	Cardiovascular (38%)	3
Stickler Syndrome Type 6	12	5	4.1	Eye (38%)	1
Acute Motor and Sensory Axonal Neuropathy	10	6	4.1	Nervous System (54%)	3
Charcot-Marie-Tooth Disease Type X	12	6	4.1	Nervous System (54%)	1
Glycogen Storage Disease Type 0a	10	6	4.1	Metabolism (54%)	3
Ichthyotic_Keratoderma_Spasticity_Hypomyelination_And_Dysmorphic_Facial_Features	12	6	4.1	Nervous System (54%)	1
Infective Endocarditis	9	6	4.1	Cardiovascular (54%)	3
Mowat-Wilson syndrome	10	6	4.1	Nervous System (54%)	2
Osteogenesis Imperfecta Type XV	11	6	4.1	Musculoskeletal (54%)	2
Pontocerebellar Hypoplasia	11	6	4.1	Nervous System (54%)	1
Rheumatic Heart Disease	11	6	4.1	Cardiovascular (54%)	2
Spondylocostal Dysostosis	9	6	4.1	Musculoskeletal (54%)	4
Tetralogy of Fallot	12	6	4.1	Cardiovascular (54%)	1
3-Hydroxy-3-Methylglutaric Aciduria	15	5	4.1	Nervous System (38%)	1
Primary Aldosteronism	13	5	4.1	Cardiovascular (38%)	3
Craniopharyngioma	17	6	4.1	Nervous System (46%)	5
Xeroderma Pigmentosum	12	5	4.1	Nervous System (40%)	3
Renal Artery Obstruction	10	5	4.1	Genitourinary (43%)	4
Hypertensive Heart Disease	17	6	4.1	Cardiovascular (45%)	3
Diastrophic Dysplasia	22	6	4.1	Musculoskeletal (43%)	8
Brachyphalangy-Polydactyly-Tibial Aplasia Syndrome	13	5	4.1	Musculoskeletal (33%)	5
Hereditary Spastic Paraplegia 49	15	5	4.0	Nervous System (44%)	3
Spondylometaphyseal Dysplasia Corner Fracture Type	14	7	4.0	Musculoskeletal (59%)	3
Sialidosis type 1	20	6	4.0	Nervous System (46%)	3
Baller-Gerold Syndrome	10	5	4.0	Musculoskeletal (41%)	7
Congenital Myasthenic Syndrome 6	12	5	4.0	Musculoskeletal (47%)	3
Cyanide Poisoning	15	5	4.0	Nervous System (47%)	0
Immunodeficiency 128	10	6	4.0	Immune (53%)	5
Neonatal Severe Encephalopathy with Lactic Acidosis and Brain Abnormalities	14	6	4.0	Nervous System (53%)	2
Kniest Dysplasia	20	6	4.0	Musculoskeletal (52%)	3
Dyssegmental Dysplasia	15	6	4.0	Musculoskeletal (52%)	5
Beta-Ketothiolase Deficiency	16	5	4.0	Nervous System (38%)	0
Aortitis	8	5	4.0	Cardiovascular (36%)	1
Cranial Neuralgia	7	5	4.0	Constitutional (36%)	4
Atelosteogenesis Type II	30	6	4.0	Musculoskeletal (45%)	11
CFAP418-related retinal ciliopathy	7	5	4.0	Eye (50%)	1
COX16-Related COX Deficiency	4	4	4.0	Cardiovascular (25%)	0
COX5A-Related COX Deficiency	3	4	4.0	Cardiovascular (25%)	1
Collagenous Sprue	7	5	4.0	Digestive (50%)	1
Complement Component 2 Deficiency	5	5	4.0	Immune (50%)	1
Crigler-Najjar Syndrome	3	4	4.0	Digestive (25%)	1
Dominant Beta-Thalassemia	6	5	4.0	Blood (50%)	1
Drug-Induced Methemoglobinemia	4	4	4.0	Blood (25%)	0
Epithelioid Sarcoma	3	4	4.0	Cardiovascular (25%)	1
Gaucher Disease Due To Saposin C Deficiency	2	4	4.0	Blood (25%)	1
Granuloma Inguinale	3	4	4.0	Genitourinary (25%)	1
Hydatidiform Mole	3	4	4.0	Blood (25%)	1
Immunodeficiency 70	2	4	4.0	Blood (25%)	2
Immunodeficiency 86	4	5	4.0	Immune (50%)	2
Kashin-Beck Disease	7	5	4.0	Musculoskeletal (50%)	1
Mitochondrial Complex I Deficiency, Nuclear Type 18	14	6	4.0	Nervous System (50%)	2
Osteogenesis Imperfecta Type XX	7	5	4.0	Musculoskeletal (50%)	1
Pontiac Fever	8	5	4.0	Constitutional (50%)	0
Pouchitis	5	5	4.0	Digestive (50%)	2
Robinow Syndrome, Autosomal Recessive 2	3	4	4.0	Eye (25%)	1
Snakebite envenoming	4	4	4.0	Blood (25%)	0
Sterol Carrier Protein 2 Deficiency	18	7	4.0	Nervous System (59%)	3
Stickler Syndrome Type 5	8	5	4.0	Eye (50%)	0
Tatton-Brown-Rahman overgrowth syndrome	4	4	4.0	Cardiovascular (25%)	0
Thyroid Follicular Carcinoma	3	4	4.0	Constitutional (25%)	1
Trimethylaminuria	3	4	4.0	Constitutional (25%)	1
angioosteohypertrophic syndrome	4	4	4.0	Cardiovascular (25%)	0
Mayer-Rokitansky-Kuster-Hauser_Syndrome	17	7	4.0	Genitourinary (58%)	2
Behr Syndrome	28	7	4.0	Nervous System (55%)	3
Familial Visceral Amyloidosis	13	5	4.0	Metabolism (39%)	5
Intellectual Disability X-linked 102	27	9	4.0	Nervous System (62%)	2
Asparagine synthetase deficiency	12	6	4.0	Nervous System (53%)	2
BBOX1-Related Carnitine Biosynthesis Deficiency	14	6	4.0	Nervous System (53%)	1
Loeys-Dietz Syndrome 6	13	5	4.0	Cardiovascular (46%)	0
Potocki-Lupski Syndrome	12	5	4.0	Nervous System (46%)	1
SCUBE3-Related Short Stature Syndrome	10	5	4.0	Musculoskeletal (46%)	2
Duchenne Muscular Dystrophy	17	6	4.0	Musculoskeletal (39%)	1
Primary Ciliary Dyskinesia 47 and Lissencephaly	12	5	4.0	Nervous System (43%)	2
Bernard-Soulier Syndrome	15	7	4.0	Blood (58%)	7
Hypoparathyroidism-Deafness-Renal Disease Syndrome	23	6	4.0	Genitourinary (52%)	4
Dent Disease	17	6	3.9	Genitourinary (41%)	5
Developmental And Epileptic Encephalopathy 38	21	6	3.9	Nervous System (55%)	1
Familial Nonmedullary Thyroid Carcinoma	12	6	3.9	Endocrine (41%)	10
CNS Vasculitis	34	8	3.9	Nervous System (57%)	5
Adult Polyglucosan Body Disease	23	7	3.9	Nervous System (56%)	4
Maple Syrup Urine Disease	17	6	3.9	Nervous System (53%)	2
CALFAN Syndrome	11	5	3.9	Nervous System (46%)	0
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	11	5	3.9	Nervous System (46%)	0
Influenza	10	5	3.9	Respiratory (46%)	1
Klippel-Feil Syndrome	9	5	3.9	Musculoskeletal (46%)	2
Marshall Syndrome	11	5	3.9	Eye (46%)	0
Patent Ductus Arteriosus	8	5	3.9	Cardiovascular (46%)	2
Van Buchem Disease	8	5	3.9	Musculoskeletal (46%)	3
Juvenile Polyposis Syndrome	10	5	3.9	Digestive (47%)	6
Neurodevelopmental Disorder with Microcephaly, Impaired Language, and Gait Abnormalities	23	8	3.9	Nervous System (57%)	4
Choroid Plexus Neoplasm	13	6	3.9	Nervous System (56%)	3
Myocarditis	13	6	3.9	Cardiovascular (56%)	3
Retinitis Pigmentosa With or Without Situs Inversus	13	5	3.9	Eye (40%)	2
TP63-Related Ectodermal Dysplasia Spectrum	12	5	3.9	Integument (40%)	2
X-linked Dystonia-Parkinsonism	16	7	3.9	Nervous System (59%)	5
Larsen Syndrome	12	5	3.9	Musculoskeletal (47%)	3
Mitochondrial Complex II Deficiency, Nuclear Type 1	9	5	3.9	Nervous System (50%)	1
Pancreatic Neuroendocrine Tumor	7	5	3.9	Digestive (50%)	3
Pneumococcal Meningitis	8	5	3.9	Nervous System (50%)	2
Pneumonic Plague	9	5	3.9	Respiratory (50%)	1
VPS53-Related Pontocerebellar Hypoplasia Type 2E	7	5	3.9	Nervous System (50%)	2
Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy	8	4	3.9	Musculoskeletal (33%)	3
Stickler Syndrome Type 2	11	4	3.9	Eye (33%)	1
Greig Cephalopolysyndactyly Syndrome	13	5	3.9	Musculoskeletal (38%)	8
Immunodeficiency Common Variable 4	8	5	3.9	Immune (42%)	7
WWOX-Related Developmental and Epileptic Encephalopathy	24	6	3.9	Nervous System (54%)	1
EDEM3-Congenital Disorder of Glycosylation	15	5	3.9	Head and Neck (50%)	1
46,XY complete gonadal dysgenesis	11	6	3.9	Genitourinary (57%)	3
Central Nervous System Teratoma	7	4	3.9	Digestive (29%)	0
Congenital Sodium Diarrhea	7	4	3.9	Digestive (29%)	0
Glycogen Storage Disease Due to Muscle Beta-Enolase Deficiency	6	4	3.9	Constitutional (29%)	1
Ovarian Mucinous Carcinoma	4	4	3.9	Digestive (29%)	3
Silent Sinus Syndrome	8	4	3.9	Eye (31%)	3
Spirillary Rat-Bite Fever	5	4	3.9	Immune (29%)	2
Mitochondrial Complex I Deficiency, Nuclear Type 13	9	6	3.9	Nervous System (58%)	2
Osteogenesis Imperfecta Type XIII	9	6	3.9	Musculoskeletal (58%)	3
Typhoid Fever	9	6	3.9	Digestive (58%)	2
Houge-Janssens Syndrome	14	5	3.9	Nervous System (50%)	3
DLG4-Related Synaptopathy	32	7	3.8	Nervous System (58%)	1
Hereditary Spastic Paraplegia 77	24	6	3.8	Nervous System (53%)	5
Immunodeficiency 105	4	4	3.8	Immune (36%)	3
Aconitine Poisoning	14	5	3.8	Cardiovascular (47%)	1
Hereditary Xanthinuria	11	5	3.8	Genitourinary (47%)	4
Medium Chain Acyl-CoA Dehydrogenase Deficiency	14	5	3.8	Nervous System (47%)	1
Boucher-Neuhauser Syndrome	22	5	3.8	Nervous System (44%)	5
Hereditary Hyperekplexia	25	6	3.8	Nervous System (43%)	5
Hypomyelinating Leukodystrophy 15	18	6	3.8	Nervous System (55%)	3
Acute Alcohol Sensitivity	4	4	3.8	Digestive (40%)	1
Anal Canal Adenocarcinoma	3	4	3.8	Digestive (40%)	1
Avascular Necrosis of Femoral Head, Primary, 2	4	4	3.8	Musculoskeletal (40%)	1
Benign Paroxysmal Positional Vertigo	5	4	3.8	Digestive (40%)	0
CDH1-Related Hereditary Diffuse Gastric Cancer	3	4	3.8	Neoplasm (40%)	2
COA6-Related Fatal Infantile Cardioencephalomyopathy	4	4	3.8	Metabolism (40%)	1
Cervical Adenocarcinoma	3	4	3.8	Genitourinary (40%)	2
Chickenpox	4	4	3.8	Integument (40%)	1
Chronic Inflammatory Demyelinating Polyneuropathy	4	4	3.8	Nervous System (40%)	1
Combined oxidative phosphorylation deficiency 42	5	4	3.8	Metabolism (40%)	0
Desmoplastic Small Round Cell Tumor	5	4	3.8	Digestive (40%)	0
Dilated Cardiomyopathy 1X	4	4	3.8	Cardiovascular (40%)	1
Endometrial Carcinoma	4	4	3.8	Genitourinary (40%)	1
Gorham-Stout disease	3	4	3.8	Musculoskeletal (40%)	2
Gout	4	4	3.8	Musculoskeletal (40%)	1
Hereditary Hemorrhagic Telangiectasia Type 4	3	4	3.8	Cardiovascular (40%)	2
Hydrolethalus Syndrome 2	4	4	3.8	Nervous System (40%)	1
KLC4-Related Early-Childhood-Onset Neurodegeneration	4	4	3.8	Nervous System (40%)	1
Lipoyl Transferase 1 Deficiency	5	4	3.8	Nervous System (40%)	0
Medulloblastoma, SHH-Activated	4	4	3.8	Nervous System (40%)	1
Merkel Cell Carcinoma	2	4	3.8	Neoplasm (40%)	2
Mitochondrial Complex I Deficiency, Nuclear Type 34	4	4	3.8	Eye (40%)	1
Neuromyelitis Optica Spectrum Disorder	3	4	3.8	Immune (40%)	2
Paraneoplastic Pemphigus	4	4	3.8	Integument (40%)	1
Pelger-Huet Anomaly	4	4	3.8	Nervous System (40%)	1
Polycystic echinococcosis	3	4	3.8	Digestive (40%)	2
Primary Carnitine Deficiency	10	4	3.8	Cardiovascular (40%)	0
Sarcoma Of Cervix Uteri	3	4	3.8	Genitourinary (40%)	2
Sneddon syndrome	3	4	3.8	Cardiovascular (40%)	2
Testicular Germ Cell Tumor	4	4	3.8	Genitourinary (40%)	1
Vitamin D-Dependent Rickets Type 2B	5	4	3.8	Metabolism (40%)	0
Alcohol Use Disorder	23	6	3.8	Nervous System (56%)	2
Christianson Syndrome	22	6	3.8	Nervous System (56%)	2
Charcot-Marie-Tooth Disease X-linked Recessive 4	13	5	3.8	Nervous System (50%)	1
Chiari Malformation Type I	12	5	3.8	Nervous System (50%)	2
Local Anesthetic Systemic Toxicity	15	5	3.8	Nervous System (44%)	1
TUBGCP6-related Microcephaly and Chorioretinopathy	12	5	3.8	Nervous System (50%)	1
Hereditary Spastic Paraplegia 7	14	6	3.8	Nervous System (56%)	2
BRCA-Mutant Prostate Cancer	4	4	3.8	Constitutional (33%)	2
Central Nervous System Germ Cell Tumor	6	4	3.8	Endocrine (33%)	0
Cutaneous Melanoma	5	4	3.8	Constitutional (33%)	1
Desmoid Tumor	5	4	3.8	Digestive (33%)	1
Erysipelas	5	4	3.8	Constitutional (33%)	1
Flea-Borne Spotted Fever	5	4	3.8	Integument (33%)	1
GNAS-related pituitary adenoma 3	3	4	3.8	Endocrine (33%)	2
Heart Failure	6	4	3.8	Constitutional (33%)	0
Hepatitis A	4	4	3.8	Digestive (33%)	2
Malignant Mesothelioma	5	4	3.8	Constitutional (33%)	1
Melanoma_in_Congenital_Melanocytic_Nevus	5	4	3.8	Integument (33%)	1
Placenta Previa	5	4	3.8	Blood (33%)	1
Punctate Palmoplantar Keratoderma	3	4	3.8	Integument (33%)	3
Rickettsialpox	4	4	3.8	Immune (33%)	2
Siberian Tick Typhus	4	4	3.8	Immune (33%)	2
Sinonasal Undifferentiated Carcinoma	5	4	3.8	Eye (33%)	1
Spondyloepimetaphyseal Dysplasia Short Limb Abnormal Calcification Syndrome	15	5	3.8	Musculoskeletal (50%)	3
Thromboangiitis obliterans	6	4	3.8	Cardiovascular (33%)	0
Ulceroglandular Tularemia	4	4	3.8	Cardiovascular (33%)	2
Cholera	13	5	3.8	Cardiovascular (38%)	0
Autosomal Recessive Spinocerebellar Ataxia 16	23	8	3.8	Nervous System (64%)	5
TRAPPC12-Related Encephalopathy	29	7	3.8	Nervous System (60%)	4
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	21	7	3.8	Nervous System (62%)	0
Cogan Syndrome	17	4	3.8	Cardiovascular (41%)	5
Birt-Hogg-Dube Syndrome	5	4	3.7	Neoplasm (38%)	3
Chronic Canaliculitis	6	4	3.7	Head and Neck (38%)	2
EML1-related Ribbon-like Subcortical Heterotopia	14	5	3.7	Nervous System (50%)	2
Heyn-Sproul-Jackson syndrome	5	4	3.7	Head and Neck (38%)	2
Melkersson-Rosenthal syndrome	4	4	3.7	Head and Neck (38%)	3
Paranasal Sinus Squamous Cell Carcinoma	6	4	3.7	Head and Neck (38%)	2
Lathyrism	12	5	3.7	Nervous System (41%)	5
Propofol Infusion Syndrome	16	5	3.7	Metabolism (41%)	1
Siderius Type X-Linked Intellectual Disability	15	5	3.7	Head and Neck (41%)	1
3-Phosphoglycerate Dehydrogenase Deficiency	14	6	3.7	Nervous System (59%)	2
Bleeding Disorder of Unknown Cause	10	6	3.7	Blood (59%)	5
Caroli disease	11	6	3.7	Digestive (59%)	5
Cyclosporiasis	10	5	3.7	Digestive (50%)	2
Hypomyelinating Leukodystrophy 12	9	5	3.7	Nervous System (50%)	2
Hypotrichosis with Juvenile Macular Dystrophy	10	5	3.7	Eye (50%)	2
Maculopapular Cutaneous Mastocytosis	9	5	3.7	Integument (50%)	3
Pulmonary Veno-Occlusive Disease and/or Pulmonary Capillary Haemangiomatosis	8	5	3.7	Respiratory (50%)	3
Charlevoix-Saguenay spastic ataxia	15	5	3.7	Nervous System (53%)	2
X-Linked Lissencephaly With Abnormal Genitalia (ARX-Related)	15	5	3.7	Nervous System (53%)	1
EGFR-Mutant Non-Small Cell Lung Cancer	8	5	3.7	Respiratory (46%)	5
Short-Rib Thoracic Dysplasia 6 With or Without Polydactyly	9	5	3.7	Musculoskeletal (46%)	4
Splenic Marginal Zone Lymphoma	7	5	3.7	Blood (46%)	5
Charcot-Marie-Tooth Disease Type 2	8	4	3.7	Musculoskeletal (33%)	1
Omphalocele	7	4	3.7	Cardiovascular (33%)	2
Immunodeficiency 102	14	6	3.7	Immune (47%)	12
Isolated Anophthalmia-Microphthalmia Syndrome	17	6	3.7	Eye (58%)	2
Mandibulofacial Dysostosis with Alopecia	9	4	3.7	Head and Neck (42%)	3
CAPOS Syndrome	25	6	3.7	Nervous System (56%)	0
Hypothalamic Hamartoma with Gelastic Seizures	12	5	3.7	Nervous System (54%)	1
MECP2 Duplication Syndrome	11	5	3.7	Nervous System (54%)	2
Neurodevelopmental Disorder with Microcephaly, Hypotonia, and Absent Language	11	5	3.7	Nervous System (54%)	1
Thanatophoric Dysplasia	10	5	3.7	Musculoskeletal (54%)	3
BCKDK Deficiency	15	6	3.7	Nervous System (56%)	2
Cholesteatoma	6	5	3.7	Ear (56%)	2
Developmental and Epileptic Encephalopathy 50	17	6	3.7	Nervous System (56%)	1
Guillain-Barre Syndrome	8	5	3.7	Nervous System (56%)	1
Immunodeficiency 35	5	5	3.7	Immune (56%)	2
Methylcobalamin Deficiency Type cblG	9	5	3.7	Nervous System (56%)	0
Platelet-type Bleeding Disorder 12	5	5	3.7	Blood (56%)	3
RCBTB1-Related Retinopathy	9	5	3.7	Eye (56%)	0
Restrictive Cardiomyopathy	9	5	3.7	Cardiovascular (56%)	0
Siddiqi Syndrome	9	5	3.7	Nervous System (56%)	0
Sinoatrial Node Dysfunction and Deafness	8	5	3.7	Cardiovascular (56%)	1
Stickler Syndrome Type 4	9	5	3.7	Eye (56%)	0
Fructose-1,6-Bisphosphatase Deficiency	13	4	3.7	Metabolism (43%)	1
Specific Antibody Deficiency	9	5	3.7	Immune (47%)	6
Hereditary Spastic Paraplegia 3A	21	6	3.7	Nervous System (52%)	7
Neurosarcoidosis	15	6	3.7	Nervous System (60%)	4
Cystinuria	19	7	3.7	Genitourinary (43%)	11
Alpers-Huttenlocher Syndrome	17	5	3.6	Nervous System (53%)	2
Hereditary Pheochromocytoma-Paraganglioma Syndrome	5	4	3.6	Neoplasm (36%)	3
Huppke-Brendel syndrome	11	5	3.6	Nervous System (55%)	0
MCM8-related gametogenic failure	8	5	3.6	Genitourinary (55%)	3
Metatropic Dysplasia	16	6	3.6	Musculoskeletal (57%)	5
Mitochondrial Complex I Deficiency Nuclear Type 23	9	5	3.6	Nervous System (55%)	2
Multiple Endocrine Neoplasia Type 2	6	4	3.6	Neoplasm (36%)	4
Naxos disease	8	5	3.6	Cardiovascular (55%)	3
Onchocerciasis	8	4	3.6	Integument (36%)	3
Pitt-Hopkins Syndrome	9	5	3.6	Nervous System (55%)	1
SLC35A2-congenital disorder of glycosylation	11	5	3.6	Nervous System (55%)	0
Ullrich congenital muscular dystrophy	31	8	3.6	Musculoskeletal (60%)	10
Acromesomelic Dysplasia Demirhan Type	22	6	3.6	Limbs (43%)	15
Citrullinemia Type I	13	5	3.6	Nervous System (53%)	2
Thrombophilia	10	5	3.6	Blood (53%)	3
Chronic Granulomatous Disease	11	6	3.6	Immune (59%)	6
Acquired Thrombotic Thrombocytopenic Purpura	9	4	3.6	Nervous System (40%)	1
Autosomal Dominant Optic Atrophy Plus	9	4	3.6	Eye (40%)	1
Carnitine Palmitoyltransferase 1A Deficiency	10	4	3.6	Metabolism (40%)	0
Charcot-Marie-Tooth Disease Axonal Type 2P	9	4	3.6	Nervous System (40%)	1
Glycogen Storage Disease Type V	9	4	3.6	Musculoskeletal (40%)	1
Juvenile Myelomonocytic Leukemia	6	4	3.6	Blood (40%)	3
Hypochondroplasia	31	5	3.6	Musculoskeletal (49%)	13
Acute Myeloid Leukemia, Core Binding Factor	6	4	3.6	Blood (43%)	1
Atrial Fibrillation	7	4	3.6	Constitutional (43%)	0
B-Lymphoblastic Leukemia/Lymphoma With Recurrent Genetic Abnormality	4	4	3.6	Blood (43%)	2
Bjornstad Syndrome	6	4	3.6	Integument (43%)	1
Congenital Aural Atresia	5	4	3.6	Ear (43%)	2
Congenital Hypomyelinating Neuropathy	5	4	3.6	Nervous System (43%)	1
Fallopian Tube Cancer	6	4	3.6	Digestive (43%)	1
Gilbert's Syndrome	5	4	3.6	Digestive (43%)	2
HROB-related gametogenic failure	8	4	3.6	Endocrine (43%)	5
Hereditary Sensory Neuropathy Type 1D	6	4	3.6	Nervous System (43%)	1
Hyperlipidemia	7	4	3.6	Metabolism (43%)	0
Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development	7	4	3.6	Nervous System (43%)	0
Lane Hamilton Syndrome	5	4	3.6	Respiratory (43%)	1
Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 1	6	4	3.6	Nervous System (43%)	1
Mucolipidosis Type IV	6	4	3.6	Eye (43%)	1
Osteochondritis of Tarsal/Metatarsal Bone	5	4	3.6	Musculoskeletal (43%)	2
Ovarian Endometrioid Carcinoma	4	4	3.6	Genitourinary (43%)	3
PAPA Syndrome	6	4	3.6	Integument (43%)	1
Paratyphoid Fever	6	4	3.6	Digestive (43%)	1
Peroxisome Biogenesis Disorder 6A (Zellweger)	7	4	3.6	Nervous System (43%)	0
Polycystic Ovary Syndrome	6	4	3.6	Integument (43%)	1
Primary Bile Acid Malabsorption	7	4	3.6	Metabolism (43%)	0
Sezary Syndrome	4	4	3.6	Integument (43%)	3
Hereditary Pulmonary Alveolar Proteinosis	15	5	3.6	Respiratory (56%)	1
Cole-Carpenter syndrome	11	5	3.6	Head and Neck (40%)	4
MSTO1-Related Mitochondrial Myopathy	19	6	3.6	Nervous System (55%)	1
Pulmonary Embolism	13	5	3.6	Cardiovascular (40%)	2
Spondylocarpotarsal Synostosis Syndrome	16	5	3.6	Musculoskeletal (50%)	6
AGAT Deficiency	18	4	3.6	Nervous System (41%)	4
Anterior Spinal Artery Syndrome	6	4	3.6	Nervous System (44%)	3
Autoimmune Lymphoproliferative Syndrome	4	4	3.6	Immune (44%)	4
CCN2-Related Kyphomelic Dysplasia	6	4	3.6	Musculoskeletal (44%)	3
Charcot-Marie-Tooth Disease Type 4K	8	4	3.6	Nervous System (44%)	1
Congenital Isolated Hyperinsulinism	7	4	3.6	Metabolism (44%)	2
Deoxyhypusine Synthase Deficiency	7	4	3.6	Nervous System (44%)	1
Immune Thrombocytopenia	4	4	3.6	Blood (44%)	3
Mitochondrial Complex I Deficiency Nuclear Type 3	8	4	3.6	Nervous System (44%)	1
Neuralgic Amyotrophy	7	4	3.6	Musculoskeletal (44%)	2
Protein S Deficiency	6	4	3.6	Blood (44%)	2
Splenic artery aneurysm	5	4	3.6	Cardiovascular (44%)	3
TUBGCP4-related Microcephaly and Chorioretinopathy	7	4	3.6	Eye (44%)	1
Testicular Sex Cord-Stromal Neoplasm	6	4	3.6	Genitourinary (44%)	2
Adenine Phosphoribosyltransferase Deficiency	23	6	3.6	Genitourinary (55%)	6
Immunodeficiency 25	6	4	3.6	Immune (46%)	3
Visceral heterotaxy	7	4	3.6	Cardiovascular (46%)	4
CLCN2-Related Leukoencephalopathy	21	5	3.6	Nervous System (55%)	1
Spinocerebellar Ataxia Type 36	16	6	3.6	Nervous System (61%)	2
Leber Hereditary Optic Neuropathy	16	5	3.6	Eye (50%)	1
Diaphyseal Medullary Stenosis with Malignant Fibrous Histiocytoma	13	5	3.6	Musculoskeletal (53%)	6
Sorbitol Dehydrogenase Deficiency	12	4	3.5	Musculoskeletal (33%)	3
Asthma	11	4	3.5	Constitutional (36%)	0
E-Cigarette or Vaping Product Use-Associated Lung Injury	12	5	3.5	Respiratory (54%)	1
Ichthyosis Vulgaris	10	5	3.5	Integument (47%)	5
Isoniazid Toxicity	10	4	3.5	Digestive (36%)	1
Juvenile Amyotrophic Lateral Sclerosis	10	5	3.5	Nervous System (54%)	2
Pyruvate Carboxylase Deficiency Disease	13	5	3.5	Nervous System (54%)	0
Skeletal Fluorosis	9	5	3.5	Musculoskeletal (54%)	4
Spastic Paraparesis-Cataracts-Speech Delay Syndrome	10	5	3.5	Nervous System (47%)	4
Agenesis of the Corpus Callosum with Peripheral Neuropathy	20	4	3.5	Nervous System (46%)	3
PUS7-Related Neurodevelopmental Disorder	20	6	3.5	Nervous System (59%)	1
EYA1-Related Branchiootorenal Spectrum Disorder	16	4	3.5	Ear (44%)	2
Developmental and Epileptic Encephalopathy 8	26	6	3.5	Nervous System (58%)	4
Antley-Bixler Syndrome, FGFR2-Related	6	4	3.5	Head and Neck (38%)	2
Cerebral Cavernous Malformation	4	4	3.5	Cardiovascular (38%)	3
Chondrodysplasia With Joint Dislocations gPAPP Type	6	4	3.5	Head and Neck (38%)	2
GPR101-related pituitary adenoma 2	4	4	3.5	Endocrine (38%)	3
Prostate Adenocarcinoma	5	4	3.5	Constitutional (38%)	3
TUBB8-related Oocyte Maturation Defect	7	4	3.5	Genitourinary (38%)	1
Osteogenesis Imperfecta Type V	16	5	3.5	Musculoskeletal (50%)	6
ACAN-Related Short Stature Spectrum	11	5	3.5	Musculoskeletal (57%)	3
Congenital Prothrombin Deficiency	9	5	3.5	Blood (57%)	3
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2	10	5	3.5	Nervous System (57%)	3
SLC44A1-Related Childhood-Onset Neurodegeneration	11	5	3.5	Nervous System (57%)	3
Autosomal Recessive Dopa-Responsive Dystonia	32	8	3.5	Nervous System (67%)	1
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7	25	5	3.5	Musculoskeletal (47%)	7
Langer Mesomelic Dysplasia	9	5	3.5	Musculoskeletal (44%)	7
Alexander Disease	24	6	3.5	Nervous System (61%)	4
Intellectual Developmental Disorder, X-Linked 114	26	6	3.5	Nervous System (61%)	2
MEF2C-Related Disorder	16	6	3.5	Nervous System (62%)	0
Urea Cycle Disorder	14	5	3.5	Nervous System (56%)	2
Acute Megakaryoblastic Leukemia	4	4	3.5	Blood (50%)	1
Aneurysmal Bone Cyst	5	4	3.5	Musculoskeletal (50%)	1
Cervical Cancer	4	4	3.5	Genitourinary (50%)	2
Cholangiocarcinoma	5	4	3.5	Digestive (50%)	1
Congenital Chloride Diarrhea	6	4	3.5	Metabolism (50%)	0
Hereditary Sensory and Autonomic Neuropathy Type 1C	6	4	3.5	Nervous System (50%)	0
Hutchinson-Gilford Progeria Syndrome	6	4	3.5	Integument (50%)	0
Hypokalemic Periodic Paralysis	4	4	3.5	Musculoskeletal (50%)	2
Infantile_Myofibromatosis	5	4	3.5	Neoplasm (50%)	1
Isolated Pierre Robin Syndrome	5	4	3.5	Head and Neck (50%)	1
Labyrinthitis	6	4	3.5	Ear (50%)	0
Livedoid vasculopathy	4	4	3.5	Integument (50%)	2
Meningeal Melanocytoma	11	4	3.5	Nervous System (50%)	1
Osmotic Demyelination Syndrome	3	4	3.5	Nervous System (50%)	2
Osteonecrosis	5	4	3.5	Musculoskeletal (50%)	1
Primary Erythermalgia	5	4	3.5	Constitutional (50%)	1
Pseudomyxoma Peritonei	4	4	3.5	Digestive (50%)	2
Renal Agenesis	6	4	3.5	Genitourinary (50%)	0
SCO1-Related COX Deficiency	5	4	3.5	Nervous System (50%)	1
Seasonal Coronavirus Infection	5	4	3.5	Respiratory (50%)	1
Synovial Sarcoma	5	4	3.5	Neoplasm (50%)	1
Vulvar Adenocarcinoma	5	4	3.5	Integument (50%)	1
Vulvar Carcinoma	5	4	3.5	Integument (50%)	1
15q11q13 Microduplication Syndrome	18	6	3.5	Nervous System (61%)	0
Spondyloepimetaphyseal Dysplasia Aggrecan Type	18	5	3.5	Musculoskeletal (56%)	7
Ataxia With Oculomotor Apraxia Type 2	22	5	3.5	Nervous System (56%)	1
Charcot-Marie-Tooth Disease Recessive Intermediate D	10	4	3.5	Nervous System (46%)	1
Combined Oxidative Phosphorylation Defect Type 7	9	4	3.5	Nervous System (46%)	2
Intellectual Disability Autosomal Recessive 65	10	4	3.5	Nervous System (46%)	1
AIP-related pituitary adenoma predisposition	6	4	3.4	Nervous System (42%)	4
Digitalis Poisoning	12	5	3.4	Cardiovascular (58%)	0
Immunodeficiency 28	8	5	3.4	Immune (58%)	3
Nemaline Myopathy	9	5	3.4	Musculoskeletal (58%)	3
Osteogenesis Imperfecta Type XIV	10	5	3.4	Musculoskeletal (58%)	2
Pericarditis	11	5	3.4	Cardiovascular (58%)	1
Laryngotracheoesophageal Cleft	14	5	3.4	Respiratory (59%)	3
3-Methylglutaconic Aciduria Type I	8	5	3.4	Nervous System (60%)	2
CAPN5-Related Vitreoretinopathy	8	5	3.4	Eye (60%)	2
Clostridioides difficile Infection	8	5	3.4	Digestive (60%)	2
Fetal Growth Restriction	10	5	3.4	Prenatal and Birth (60%)	0
Osteogenesis Imperfecta Type XIX	8	5	3.4	Musculoskeletal (60%)	2
Shashi X-Linked Intellectual Disability Syndrome	10	5	3.4	Head and Neck (60%)	0
Endophthalmitis	9	6	3.4	Eye (64%)	4
Metaphyseal Chondrodysplasia, Schmid Type	14	5	3.4	Musculoskeletal (46%)	8
Takotsubo Cardiomyopathy	19	6	3.4	Cardiovascular (64%)	3
IgA Nephropathy	10	5	3.4	Genitourinary (47%)	7
Immunodeficiency 89 and Autoimmunity	7	4	3.4	Immune (50%)	3
Hemicrania Continua	10	4	3.4	Eye (38%)	2
Fatal Familial Insomnia	19	7	3.4	Nervous System (67%)	2
46,XY partial gonadal dysgenesis	22	6	3.4	Genitourinary (63%)	5
Aspergillosis	11	5	3.4	Respiratory (57%)	3
Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1A	10	5	3.4	Musculoskeletal (57%)	4
Usmani-Riazuddin Syndrome, Autosomal Dominant	13	5	3.4	Nervous System (57%)	1
Cholesteryl Ester Storage Disease	6	4	3.4	Digestive (44%)	2
Deafness, Congenital Heart Defects, and Posterior Embryotoxon	8	4	3.4	Cardiovascular (44%)	1
Dystroglycanopathy	9	4	3.4	Nervous System (44%)	0
GYG1-Related Disorder of Glycogen Metabolism	8	4	3.4	Musculoskeletal (44%)	1
Hairy Cell Leukemia	5	4	3.4	Immune (44%)	3
IFAP Syndrome 1	7	4	3.4	Integument (44%)	2
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	8	4	3.4	Digestive (44%)	1
Metabolic Dysfunction-Associated Steatotic Liver Disease	7	4	3.4	Digestive (44%)	2
Aflatoxin-Related Hepatocellular Carcinoma	6	4	3.4	Digestive (50%)	2
Anaerobic Pneumonia	6	4	3.4	Respiratory (50%)	2
Bullous Pemphigoid	6	4	3.4	Integument (50%)	2
CD16 Deficiency	4	4	3.4	Immune (50%)	2
Cervical Artery Dissection	5	4	3.4	Nervous System (50%)	3
Congenital Insensitivity to Pain	6	4	3.4	Nervous System (50%)	2
FGFR-Altered Cholangiocarcinoma	6	4	3.4	Digestive (50%)	2
Fibrocartilaginous Embolism	6	4	3.4	Nervous System (50%)	2
Glucose-Galactose Malabsorption	7	4	3.4	Digestive (50%)	1
Heritable Pulmonary Arterial Hypertension	6	4	3.4	Cardiovascular (50%)	2
Human Papillomavirus Infection	4	4	3.4	Neoplasm (50%)	4
IDH-Mutant Cholangiocarcinoma	6	4	3.4	Digestive (50%)	2
Light Chain Deposition Disease	6	4	3.4	Genitourinary (50%)	2
Limb-Girdle Muscular Dystrophy, Autosomal Dominant	6	4	3.4	Musculoskeletal (50%)	2
Lupus Nephritis	5	4	3.4	Genitourinary (50%)	3
Malignant hyperthermia of anesthesia	8	4	3.4	Metabolism (50%)	0
McKusick-Kaufman syndrome	7	4	3.4	Genitourinary (50%)	1
ROS1-Rearranged Non-Small Cell Lung Cancer	5	4	3.4	Respiratory (50%)	3
Retinal Arterial Tortuosity	4	4	3.4	Eye (50%)	2
Retinoblastoma	6	4	3.4	Eye (50%)	2
Schindler Disease	7	4	3.4	Nervous System (50%)	1
Selective IgM Deficiency	5	4	3.4	Immune (50%)	3
Sinoatrial Block	7	4	3.4	Cardiovascular (50%)	1
Skraban-Deardorff Syndrome	17	4	3.4	Nervous System (42%)	2
Jeune Asphyxiating Thoracic Dystrophy	17	6	3.4	Musculoskeletal (59%)	5
Leri-Weill Dyschondrosteosis	14	5	3.3	Musculoskeletal (48%)	9
Pilarowski-Bjornsson syndrome	11	4	3.3	Nervous System (46%)	2
Brain Abnormalities, Neurodegeneration, and Dysosteosclerosis	22	6	3.3	Nervous System (59%)	4
Hereditary Breast and Ovarian Cancer Syndrome	10	4	3.3	Neoplasm (53%)	8
Developmental Malformations-Deafness-Dystonia Syndrome	11	4	3.3	Nervous System (50%)	1
Luscan-Lumish Syndrome	11	4	3.3	Nervous System (50%)	1
Rhizomelic Dysplasia, Ain-Naz Type	22	6	3.3	Musculoskeletal (55%)	8
SNF8-Related Neurodevelopmental Disorder	13	5	3.3	Nervous System (56%)	2
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome	18	5	3.3	Eye (47%)	1
Adenylosuccinate Lyase Deficiency	20	4	3.3	Head and Neck (40%)	4
ADPRS-Related Stress-Induced Neurodegeneration	23	6	3.3	Nervous System (64%)	2
Odonto-Onycho-Dermal Dysplasia	13	4	3.3	Integument (53%)	4
Amyotrophic Lateral Sclerosis-Parkinsonism-Dementia Complex	12	5	3.2	Nervous System (62%)	1
Bile Duct Cyst	8	5	3.2	Digestive (62%)	5
Idiopathic Gastroparesis	11	5	3.2	Digestive (62%)	2
Myopathic Ehlers-Danlos Syndrome	12	5	3.2	Musculoskeletal (62%)	1
Ocular Melanoma	10	5	3.2	Eye (62%)	3
Persistent Truncus Arteriosus	12	5	3.2	Cardiovascular (62%)	1
Fanconi Renotubular Syndrome	13	5	3.2	Metabolism (45%)	7
IRF2BPL-Related Neurodevelopmental Disorder with Regression	23	6	3.2	Nervous System (65%)	3
12p12.1 Microdeletion Syndrome	12	4	3.2	Nervous System (50%)	1
Charcot-Marie-Tooth Disease Type 2B2	12	4	3.2	Nervous System (50%)	2
Exstrophy-Epispadias Complex	11	4	3.2	Genitourinary (50%)	3
Ornithine Carbamoyltransferase Deficiency	13	4	3.2	Nervous System (47%)	2
Kariminejad Neurodevelopmental Syndrome	14	5	3.2	Head and Neck (60%)	1
Cherubism	8	4	3.2	Head and Neck (50%)	2
Evans Syndrome	8	4	3.2	Blood (50%)	3
Familial Adenomatous Polyposis	6	4	3.2	Neoplasm (50%)	4
Mal De Debarquement	10	4	3.2	Nervous System (50%)	0
Neuropathy Hereditary Motor And Sensory Type VIc With Optic Atrophy	9	4	3.2	Nervous System (50%)	1
Progressive Bulbar Palsy	8	4	3.2	Nervous System (50%)	2
RTN4IP1-Related Optic Atrophy	10	4	3.2	Nervous System (50%)	0
FOXG1 Disorder	36	6	3.2	Nervous System (67%)	2
Neurodevelopmental Disorder with Hearing Loss and Spasticity	21	5	3.2	Nervous System (58%)	2
TUBB4A-related Neurologic Disorder	20	6	3.2	Nervous System (65%)	3
Double Outlet Right Ventricle	17	5	3.2	Cardiovascular (61%)	1
Blue Rubber Bleb Nevus Syndrome	17	4	3.2	Cardiovascular (50%)	2
SCN1B-Related Developmental and Epileptic Encephalopathy	17	6	3.2	Nervous System (65%)	2
COL11A2-Related Skeletal Spectrum	10	4	3.2	Head and Neck (46%)	1
Mitchell-Riley Syndrome	15	5	3.2	Digestive (62%)	1
Idiopathic Pulmonary Fibrosis	9	5	3.2	Respiratory (64%)	2
Spondylometaphyseal Dysplasia, Schmidt Type	16	5	3.2	Musculoskeletal (56%)	7
BLOC1S1-related Complex Neurodevelopmental Disorder with Leukodystrophy	12	4	3.2	Nervous System (54%)	1
Dandy-Walker Syndrome	11	4	3.2	Nervous System (54%)	2
Giardiasis	12	4	3.2	Digestive (54%)	2
Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly	9	4	3.2	Musculoskeletal (54%)	4
SLC12A5-Related Developmental and Epileptic Encephalopathy	15	6	3.2	Nervous System (67%)	2
Alveolar Soft Part Sarcoma	4	4	3.2	Neoplasm (57%)	3
Androgenetic Alopecia	6	4	3.2	Integument (57%)	1
Balkan Endemic Nephropathy	5	4	3.2	Genitourinary (57%)	2
Cervical Dystonia	5	4	3.2	Nervous System (57%)	1
Choroideremia-Deafness-Obesity Syndrome	7	4	3.2	Eye (57%)	0
DSP Cardiomyopathy	5	4	3.2	Cardiovascular (57%)	2
Hemimegalencephaly	6	4	3.2	Nervous System (57%)	1
Hereditary Spastic Paraplegia 5A	6	4	3.2	Nervous System (57%)	1
Hypomyelinating Leukodystrophy 23	7	4	3.2	Nervous System (57%)	0
Meacham syndrome	7	4	3.2	Genitourinary (57%)	0
Osteogenesis Imperfecta Type XVIII	6	4	3.2	Musculoskeletal (57%)	1
THUMPD1-Related Neurodevelopmental Disorder with Speech Delay and Variable Ocular Anomalies	7	4	3.2	Nervous System (57%)	0
TTN-Related Myopathy, Dominant-Negative TTNsv	6	4	3.2	Musculoskeletal (57%)	1
Chondrodysplasia Punctata, Tibial-metacarpal Type	13	5	3.2	Musculoskeletal (59%)	4
Multiple Epiphyseal Dysplasia	14	5	3.2	Musculoskeletal (59%)	3
Spinocerebellar Ataxia 43	16	5	3.2	Nervous System (59%)	1
ACys Amyloidosis	6	4	3.2	Nervous System (56%)	2
Charcot-Marie-Tooth Disease Axonal Type 2Z	9	4	3.2	Nervous System (56%)	0
Congenital Pulmonary Airway Malformation	6	4	3.2	Respiratory (56%)	3
Hepatocellular Carcinoma	7	4	3.2	Digestive (56%)	2
Kufor-Rakeb syndrome	6	4	3.2	Nervous System (56%)	2
Platelet-type Bleeding Disorder 22	5	4	3.2	Blood (56%)	2
Pulmonary Alveolar Microlithiasis	8	4	3.2	Respiratory (56%)	1
Spondyloepimetaphyseal Dysplasia Guo-Campeau Type	7	4	3.2	Musculoskeletal (56%)	2
Distal Hereditary Motor Neuronopathy, Autosomal Recessive	9	4	3.1	Musculoskeletal (42%)	3
Leber Optic Atrophy and Dystonia	15	4	3.1	Nervous System (50%)	1
Aicardi Syndrome	18	5	3.1	Nervous System (62%)	2
Familial Exudative Vitreoretinopathy	20	6	3.1	Eye (64%)	6
Dravet_syndrome	49	7	3.1	Nervous System (69%)	2
Pelizaeus-Merzbacher Disease	17	5	3.1	Nervous System (63%)	2
Spastic Paraplegia 81	15	5	3.1	Nervous System (63%)	3
GRIN2B-Related Developmental and Epileptic Encephalopathy	13	5	3.1	Nervous System (62%)	2
Lissencephaly Spectrum Disorders	13	5	3.1	Nervous System (62%)	2
Neurodevelopmental Disorder with Severe Motor Impairment and Absent Language	14	5	3.1	Nervous System (62%)	1
Buschke-Ollendorff Syndrome	10	4	3.1	Musculoskeletal (50%)	2
Combined Immunodeficiency Due To Moesin Deficiency	6	4	3.1	Immune (50%)	4
Hypertensive Retinopathy	7	4	3.1	Eye (50%)	4
Myalgic Encephalomyelitis/Chronic Fatigue Syndrome	10	4	3.1	Nervous System (50%)	2
Histiocytoid Cardiomyopathy	15	6	3.1	Cardiovascular (69%)	1
Uveitis	11	6	3.1	Eye (69%)	4
Acrocapitofemoral Dysplasia	39	7	3.1	Musculoskeletal (52%)	23
DeSanto-Shinawi syndrome	11	4	3.1	Nervous System (55%)	0
Idiopathic Phalangeal Acro-osteolysis	7	4	3.1	Musculoskeletal (55%)	4
Spastic Paraplegia 90A, Autosomal Dominant	9	4	3.1	Nervous System (55%)	2
Taurine transporter deficiency	10	4	3.1	Eye (55%)	1
Neurodevelopmental Disorder with Microcephaly, Movement Abnormalities, and Seizures	21	5	3.1	Nervous System (61%)	1
Congenital Heart Disease	19	6	3.1	Cardiovascular (68%)	3
Delpire-McNeill Syndrome	11	4	3.1	Nervous System (58%)	1
Pelvic Organ Prolapse	9	4	3.1	Genitourinary (58%)	3
Familial Isolated Vitamin E Deficiency	18	5	3.1	Nervous System (61%)	0
Hereditary Sensory and Autonomic Neuropathy Type 1E	18	6	3.1	Nervous System (68%)	1
Familial Hemiplegic Migraine	39	6	3.0	Nervous System (68%)	2
GLUT1 Deficiency Syndrome	20	6	3.0	Nervous System (68%)	4
Brachydactyly Type E1	8	4	3.0	Limbs (43%)	6
Charcot-Marie-Tooth Disease Dominant Intermediate G	14	4	3.0	Nervous System (56%)	2
Scapuloperoneal Spinal Muscular Atrophy	11	4	3.0	Musculoskeletal (56%)	5
Acquired Immunodeficiency Syndrome	2	3	3.0	Immune (33%)	1
Appendiceal Neuroendocrine Tumor	1	3	3.0	Endocrine (33%)	1
CDH23-associated pituitary adenoma 5	1	3	3.0	Endocrine (33%)	1
COX10-Related COX Deficiency	3	3	3.0	Metabolism (33%)	0
Chancroid	2	3	3.0	Cardiovascular (33%)	1
Clear Cell Ovarian Carcinoma	2	3	3.0	Blood (33%)	1
Congenital Epulis	3	3	3.0	Digestive (33%)	0
Dimethylglycine Dehydrogenase Deficiency	3	3	3.0	Constitutional (33%)	0
Dubin-Johnson Syndrome	2	3	3.0	Digestive (33%)	1
EDN3/EDNRB Waardenburg-Shah	2	3	3.0	Digestive (33%)	1
Endometrial Endometrioid Adenocarcinoma	3	3	3.0	Blood (33%)	0
FLNA Intestinal Pseudoobstruction	3	3	3.0	Digestive (33%)	0
Glanders	2	3	3.0	Immune (33%)	1
Isolated Growth Hormone Deficiency Type IA	3	3	3.0	Growth (33%)	0
Malignant Peripheral Nerve Sheath Tumor	3	3	3.0	Constitutional (33%)	0
Mitochondrial Complex I Deficiency, Nuclear Type 14	3	3	3.0	Cardiovascular (33%)	0
Optic Atrophy 13 With Retinal and Foveal Abnormalities	10	5	3.0	Eye (67%)	2
Palmoplantar Keratoderma-Deafness Syndrome	2	3	3.0	Ear (33%)	1
Papillary Thyroid Carcinoma	2	3	3.0	Cardiovascular (33%)	1
Platelet-type Bleeding Disorder 20	8	5	3.0	Blood (67%)	3
Primary Sclerosing Cholangitis	4	3	3.0	Constitutional (33%)	2
Rotor Syndrome	2	3	3.0	Digestive (33%)	1
Solitary Fibrous Tumor	3	3	3.0	Metabolism (33%)	0
erythromelalgia	2	3	3.0	Cardiovascular (33%)	1
Adult-Onset Dystonia-Parkinsonism	33	7	3.0	Nervous System (70%)	4
Congenital Total Pulmonary Venous Return Anomaly	12	4	3.0	Cardiovascular (50%)	2
Acute Myeloid Leukemia with CEBPA Somatic Mutations	9	4	3.0	Blood (54%)	3
KDM1A-Related Neurodevelopmental Disorder	12	4	3.0	Head and Neck (54%)	1
Karyomegalic Interstitial Nephritis	10	4	3.0	Genitourinary (54%)	3
CPT1C-Related Hereditary Spastic Paraplegia	22	4	3.0	Nervous System (55%)	6
Ethylene Glycol Poisoning	9	3	3.0	Genitourinary (36%)	2
Aflatoxicosis	8	4	3.0	Digestive (60%)	2
Dentici-Novelli neurodevelopmental syndrome	8	4	3.0	Nervous System (60%)	1
Epilepsy of Infancy with Migrating Focal Seizures	8	4	3.0	Nervous System (60%)	1
FLVCR1-Related Retinopathy with or without Ataxia	10	4	3.0	Eye (60%)	0
Greenberg Dysplasia	7	4	3.0	Musculoskeletal (60%)	3
NAGA Deficiency Type 3	10	4	3.0	Nervous System (60%)	0
Paraneoplastic Neurological Syndromes	10	4	3.0	Nervous System (60%)	0
Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis	10	3	3.0	Nervous System (40%)	0
Congenital Hydrocephalus	15	4	3.0	Nervous System (57%)	5
FG Syndrome 4	8	3	3.0	Digestive (38%)	0
Hand-Foot-Genital Syndrome	5	3	3.0	Limbs (38%)	3
SMAD6-related craniosynostosis	5	3	3.0	Head and Neck (38%)	3
Frasier Syndrome	11	5	2.9	Genitourinary (67%)	4
Immunodeficiency 67	10	5	2.9	Immune (67%)	4
Rabies	12	5	2.9	Nervous System (67%)	3
Hypertrophic Cardiomyopathy 4	15	6	2.9	Cardiovascular (71%)	2
Testicular Seminoma	5	3	2.9	Genitourinary (43%)	2
Infantile Cerebellar-Retinal Degeneration	13	4	2.9	Nervous System (60%)	1
Holt-Oram syndrome	9	3	2.9	Cardiovascular (42%)	3
Autosomal Recessive Optic Atrophy OPA7 Type	12	4	2.9	Eye (58%)	0
Complex Hereditary Spastic Paraplegia	10	4	2.9	Nervous System (58%)	2
Hypertrophic Cardiomyopathy	10	4	2.9	Cardiovascular (58%)	2
N-Acetylglutamate Synthase Deficiency	11	4	2.9	Nervous System (58%)	1
Temtamy Syndrome	12	4	2.9	Nervous System (58%)	0
ADan amyloidosis	8	4	2.9	Nervous System (62%)	0
Dilated Cardiomyopathy	8	4	2.9	Cardiovascular (62%)	0
Glioma	7	4	2.9	Nervous System (62%)	1
Hirschsprung Disease	7	4	2.9	Digestive (62%)	1
Left Ventricular Noncompaction 10	8	4	2.9	Cardiovascular (62%)	0
Left Ventricular Noncompaction 8	7	4	2.9	Cardiovascular (62%)	1
MED11-Related Disorder	6	4	2.9	Nervous System (62%)	1
Meckel Diverticulum	5	4	2.9	Digestive (62%)	2
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial IRF8 Deficiency	6	4	2.9	Immune (62%)	2
Mixed Neuronal-Glial Tumor	6	4	2.9	Nervous System (62%)	2
Neutral Lipid Storage Myopathy	6	4	2.9	Musculoskeletal (62%)	2
Osteogenesis Imperfecta Type X	6	4	2.9	Musculoskeletal (62%)	2
Osteogenesis Imperfecta Type XI	7	4	2.9	Musculoskeletal (62%)	1
Progressive Supranuclear Palsy	15	4	2.9	Nervous System (62%)	1
Progressive_Retinal_Dystrophy_Due_To_Retinol_Transport_Defect	7	4	2.9	Eye (62%)	1
Social Anxiety Disorder	8	4	2.9	Nervous System (62%)	0
Monomelic Amyotrophy	10	3	2.9	Musculoskeletal (38%)	3
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G	13	3	2.9	Nervous System (44%)	3
Hereditary Spastic Paraplegia	14	4	2.9	Nervous System (59%)	3
Metaphyseal dysplasia, Spahr type	9	4	2.9	Musculoskeletal (53%)	6
Distal Hereditary Motor Neuronopathy Type 2A	8	3	2.9	Nervous System (44%)	1
Humeroradial Synostosis	9	4	2.9	Musculoskeletal (50%)	7
TRIO-Related Neurodevelopmental Disorder	14	4	2.9	Nervous System (61%)	3
Spondylometaphyseal Dysplasia Kozlowski Type	20	5	2.9	Musculoskeletal (62%)	9
Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome	10	3	2.9	Eye (40%)	0
Charcot-Marie-Tooth disease, axonal, type 2JJ	5	3	2.9	Musculoskeletal (40%)	0
Chemotherapy-Induced Diarrhea	4	3	2.9	Digestive (40%)	1
Distal Hereditary Motor Neuronopathy, Autosomal Dominant	8	3	2.9	Musculoskeletal (40%)	2
Hemophilia	3	3	2.9	Blood (40%)	1
Jackson-Weiss Syndrome	6	3	2.9	Limbs (40%)	4
Marginal Zone Lymphoma	2	3	2.9	Cardiovascular (40%)	2
Methylmalonic Aciduria and Homocystinuria cblL Type	4	3	2.9	Metabolism (40%)	1
Mucopolysaccharidosis type IX	3	3	2.9	Metabolism (40%)	2
NDP-Related Vitreoretinopathy	5	3	2.9	Eye (40%)	0
PHARC syndrome	5	3	2.9	Eye (40%)	0
Penttinen_Premature_Aging_Syndrome	4	3	2.9	Integument (40%)	1
Peripheral Artery Disease	4	3	2.9	Constitutional (40%)	1
Podoconiosis	5	3	2.9	Integument (40%)	0
Primary Biliary Cholangitis	4	3	2.9	Digestive (40%)	1
Raynaud Disease	5	3	2.9	Cardiovascular (40%)	0
Schwannomatosis	3	3	2.9	Neoplasm (40%)	2
Sideroblastic Anemia 3	4	3	2.9	Blood (40%)	1
SQSTM1-Related Childhood-Onset Neurodegeneration	18	5	2.9	Nervous System (65%)	2
Spinocerebellar Ataxia Type 31	12	5	2.8	Nervous System (69%)	1
ALK-Rearranged Non-Small Cell Lung Cancer	2	3	2.8	Neoplasm (50%)	2
Acute Hypotension	3	3	2.8	Cardiovascular (50%)	1
Adenomyosis	6	3	2.8	Genitourinary (50%)	2
Angiosarcoma	3	3	2.8	Neoplasm (50%)	1
Autosomal Dominant Nonsyndromic Hearing Loss 17	4	3	2.8	Ear (50%)	0
Bladder Urothelial Carcinoma	3	3	2.8	Genitourinary (50%)	1
COX18-Related COX Deficiency	4	3	2.8	Nervous System (50%)	0
Central Precocious Puberty	4	3	2.8	Endocrine (50%)	0
Charcot-Marie-Tooth Disease	4	3	2.8	Nervous System (50%)	0
Cone-rod dystrophy and hearing loss 1	4	3	2.8	Genitourinary (50%)	0
Congenital Lactase Deficiency	4	3	2.8	Metabolism (50%)	0
Cyanosis Transient Neonatal	4	3	2.8	Blood (50%)	0
Dieulafoy Lesion	2	3	2.8	Cardiovascular (50%)	1
Distal Hereditary Motor Neuronopathy Type 5B	7	3	2.8	Limbs (50%)	5
Essential Hypertension	4	3	2.8	Cardiovascular (50%)	0
FGFR-Altered Urothelial Carcinoma	3	3	2.8	Genitourinary (50%)	1
Fallopian tube benign neoplasm	4	3	2.8	Genitourinary (50%)	0
Generalized Resistance to Thyroid Hormone	4	3	2.8	Endocrine (50%)	0
Gestational Diabetes Mellitus	5	3	2.8	Metabolism (50%)	0
Hypercholanemia Familial 2	8	3	2.8	Metabolism (50%)	0
Immunodeficiency 65 (IRF9 Deficiency)	2	3	2.8	Immune (50%)	2
Intrahepatic Cholestasis of Pregnancy	4	3	2.8	Metabolism (50%)	0
Large Cell Neuroendocrine Carcinoma	2	3	2.8	Neoplasm (50%)	2
Liposarcoma	3	3	2.8	Neoplasm (50%)	1
Lung Carcinoma	4	3	2.8	Respiratory (50%)	0
Lymphatic filariasis	4	3	2.8	Metabolism (50%)	0
Lymphomatoid Granulomatosis	4	3	2.8	Respiratory (50%)	0
Medulloblastoma, WNT-Activated	4	3	2.8	Nervous System (50%)	0
Mixed Connective Tissue Disease	4	3	2.8	Musculoskeletal (50%)	0
Mucoepidermoid Carcinoma	2	3	2.8	Head and Neck (50%)	1
Mycoplasma Pneumoniae Pneumonia	3	3	2.8	Respiratory (50%)	1
Otomycosis	3	3	2.8	Ear (50%)	1
Penile Cancer	3	3	2.8	Genitourinary (50%)	1
Pilocytic Astrocytoma	3	3	2.8	Nervous System (50%)	1
Pneumocystis Pneumonia	3	3	2.8	Respiratory (50%)	1
Polymyalgia Rheumatica	4	3	2.8	Constitutional (50%)	0
SOX10 Neurocristopathy Spectrum	3	3	2.8	Nervous System (50%)	1
Semicircular Canal Dehiscence Syndrome	8	3	2.8	Ear (50%)	0
Squamous Cell Carcinoma of Penis	3	3	2.8	Genitourinary (50%)	1
TLR3 Deficiency	2	3	2.8	Immune (50%)	2
Transitional Cell Carcinoma	2	3	2.8	Genitourinary (50%)	2
capillary leak syndrome	4	3	2.8	Metabolism (50%)	0
Adult-Onset Autosomal Dominant Demyelinating Leukodystrophy	14	5	2.8	Nervous System (69%)	2
Intellectual Disability, Autosomal Dominant 6	15	5	2.8	Nervous System (69%)	1
Rett Syndrome	14	5	2.8	Nervous System (69%)	1
Cerebral Amyloid Angiopathy	9	3	2.8	Nervous System (50%)	5
Charcot-Marie-Tooth Disease Axonal Type 2S	10	3	2.8	Nervous System (46%)	1
CRADD-Related Thin Lissencephaly	23	6	2.8	Nervous System (71%)	1
46,XX Gonadal Dysgenesis	9	4	2.8	Genitourinary (64%)	2
Chronic_Obstructive_Pulmonary_Disease	11	4	2.8	Respiratory (64%)	0
Clouston Syndrome	8	4	2.8	Integument (64%)	3
Congenital Myasthenic Syndrome 18	10	4	2.8	Nervous System (64%)	1
Inherited Ichthyosis	9	4	2.8	Integument (64%)	2
MCM3AP-Related Peripheral Neuropathy	11	4	2.8	Nervous System (64%)	0
Neuronal Ceroid Lipofuscinosis 3	16	4	2.8	Nervous System (56%)	0
SETBP1 Haploinsufficiency Disorder	11	4	2.8	Nervous System (64%)	0
Torsion Dystonia 6	7	4	2.8	Nervous System (64%)	3
pantothenate kinase-associated neurodegeneration	9	4	2.8	Nervous System (64%)	2
Cystic Leukoencephalopathy Without Megalencephaly	9	4	2.8	Nervous System (62%)	3
CHEK2-related Cancer Predisposition	5	3	2.8	Neoplasm (50%)	5
Blount Disease	7	3	2.8	Limbs (42%)	5
Action Myoclonus-Renal Failure Syndrome	13	4	2.8	Nervous System (60%)	2
Isolated Sulfite Oxidase Deficiency	19	5	2.8	Nervous System (65%)	3
SETD1B-Related Neurodevelopmental Disorder	21	6	2.8	Nervous System (73%)	1
3-Methylcrotonyl-CoA Carboxylase Deficiency	6	3	2.7	Metabolism (50%)	0
Acute Myeloid Leukemia, IDH-Mutated	5	3	2.7	Blood (50%)	1
Adult Granulosa Cell Tumor of Ovary	4	3	2.7	Genitourinary (50%)	2
Arsenic-Related Cancers	6	3	2.7	Neoplasm (50%)	0
Autoimmune Hepatitis	5	3	2.7	Digestive (50%)	1
Charcot-Marie-Tooth Disease Type 4	6	3	2.7	Nervous System (50%)	0
Cutaneous Squamous Cell Carcinoma	4	3	2.7	Integument (50%)	2
Dracunculiasis	6	3	2.7	Constitutional (50%)	0
Empty Nose Syndrome	11	3	2.7	Nervous System (50%)	1
Hepatic Fibrinogen Storage Disease	6	3	2.7	Digestive (50%)	0
Hereditary Leiomyomatosis and Renal Cell Cancer	3	3	2.7	Neoplasm (50%)	3
KRAS G12C-Mutant Non-Small Cell Lung Cancer	3	3	2.7	Neoplasm (50%)	3
Malignant Non-Dysgerminomatous Germ Cell Tumor Of Ovary	5	3	2.7	Digestive (50%)	1
Normal Pressure Hydrocephalus	5	3	2.7	Nervous System (50%)	1
Preterm Premature Rupture of the Membranes	6	3	2.7	Prenatal and Birth (50%)	0
Rhabdoid Tumor Predisposition Syndrome 2	4	3	2.7	Neoplasm (50%)	2
Sarcopenia	6	3	2.7	Musculoskeletal (50%)	0
Schwannoma	5	3	2.7	Ear (50%)	1
Shigellosis	5	3	2.7	Digestive (50%)	1
Urticaria	3	3	2.7	Integument (50%)	2
Vulvodynia	6	3	2.7	Constitutional (50%)	0
PRKAG2 Cardiac Syndrome	15	4	2.7	Cardiovascular (59%)	2
Carotid Stenosis	5	3	2.7	Cardiovascular (43%)	2
Cervical Squamous Cell Carcinoma	5	3	2.7	Blood (43%)	2
Cronkhite-Canada syndrome	6	3	2.7	Digestive (43%)	1
Dupuytren Contracture	4	3	2.7	Limbs (43%)	3
Hereditary Arterial and Articular Multiple Calcification Syndrome	6	3	2.7	Cardiovascular (43%)	1
Interleukin-10 Receptor Deficiency	4	3	2.7	Digestive (43%)	2
Mesomelic Dysplasia, Kantaputra Type	4	3	2.7	Limbs (43%)	3
Adult-Onset Ataxia and Polyneuropathy	17	4	2.7	Nervous System (67%)	1
Alcohol-Associated Liver Disease	6	4	2.7	Digestive (67%)	3
Cardiomyopathy Dilated 2H	8	4	2.7	Cardiovascular (67%)	1
Coronary Arterial Fistulas	8	4	2.7	Cardiovascular (67%)	1
Gallbladder Cancer	7	4	2.7	Digestive (67%)	2
Krabbe Disease	8	4	2.7	Nervous System (67%)	1
Osteogenesis Imperfecta Type VI	8	4	2.7	Musculoskeletal (67%)	1
Osteogenesis Imperfecta Type XVII	8	4	2.7	Musculoskeletal (67%)	1
Periodontitis	6	4	2.7	Head and Neck (67%)	3
Phelan-McDermid Syndrome	9	4	2.7	Nervous System (67%)	0
Pyoderma Gangrenosum	8	4	2.7	Integument (67%)	1
Sagittal Sinus Thrombosis	7	4	2.7	Nervous System (67%)	1
Small Intestinal Bacterial Overgrowth	8	4	2.7	Digestive (67%)	1
Spondyloepimetaphyseal Dysplasia Strudwick Type	17	4	2.7	Musculoskeletal (61%)	6
Huntington Disease	43	9	2.7	Nervous System (77%)	5
Acute Disseminated Encephalomyelitis	15	5	2.7	Nervous System (71%)	2
Spondylo-megaepiphyseal-metaphyseal Dysplasia	13	5	2.7	Musculoskeletal (71%)	4
Parenti-Mignot Neurodevelopmental Syndrome	8	3	2.7	Nervous System (56%)	1
Renal Nutcracker Syndrome	7	3	2.7	Genitourinary (56%)	2
Chorea-acanthocytosis	13	5	2.7	Nervous System (71%)	1
IREB2-Related Neurodegeneration	14	5	2.7	Nervous System (71%)	0
Neurodegeneration With Brain Iron Accumulation	12	5	2.7	Nervous System (71%)	2
Distal Myopathy 6, Adult-Onset, Autosomal Dominant	10	4	2.7	Musculoskeletal (64%)	4
Acromesomelic Dysplasia Maroteaux Type	18	4	2.7	Musculoskeletal (59%)	9
Spinocerebellar ataxia 27B	13	3	2.7	Nervous System (54%)	0
Bilateral Microtia-Deafness-Cleft Palate Syndrome	10	4	2.7	Ear (67%)	1
Denys-Drash Syndrome	9	4	2.7	Genitourinary (67%)	3
Infantile Parkinsonism-Dystonia	12	4	2.7	Nervous System (67%)	0
Nonketotic Hyperglycinemia	12	4	2.7	Nervous System (67%)	0
Periventricular Nodular Heterotopia 9	10	4	2.7	Nervous System (67%)	1
Persistent Mullerian Duct Syndrome	9	4	2.7	Genitourinary (67%)	3
SPTAN1-Related Developmental and Epileptic Encephalopathy	9	4	2.7	Nervous System (67%)	2
Autosomal Recessive Spastic Ataxia 9	22	6	2.7	Nervous System (74%)	1
Intellectual Disability Autosomal Dominant 34	22	6	2.7	Nervous System (74%)	1
Allergic Cutaneous Vasculitis	5	3	2.6	Cardiovascular (50%)	2
Aquarium Granuloma	7	3	2.6	Integument (50%)	1
Capillary Malformation-Arteriovenous Malformation Syndrome	6	3	2.6	Cardiovascular (50%)	2
Cerebral Proliferative Angiopathy	5	3	2.6	Nervous System (50%)	2
Cor Pulmonale	7	3	2.6	Respiratory (50%)	1
MET Exon 14 Skipping Non-Small Cell Lung Cancer	4	3	2.6	Neoplasm (50%)	4
Meester-Loeys Syndrome	8	3	2.6	Musculoskeletal (50%)	0
Minimal Change Disease	7	3	2.6	Metabolism (50%)	1
Progressive Muscular Atrophy	7	3	2.6	Nervous System (50%)	1
RET-Rearranged Non-Small Cell Lung Cancer	4	3	2.6	Neoplasm (50%)	4
Small Cell Lung Cancer	4	3	2.6	Neoplasm (50%)	4
LAMB1-Related Cobblestone Lissencephaly	15	4	2.6	Nervous System (67%)	4
Porphyria-Related Leukoencephalopathy	14	3	2.6	Nervous System (53%)	1
TUBGCP2-related Lissencephaly Spectrum Disorder	19	4	2.6	Nervous System (68%)	2
CACNA1E-Related Developmental and Epileptic Encephalopathy	21	5	2.6	Nervous System (70%)	2
Arterial Calcification of Infancy	8	3	2.6	Cardiovascular (44%)	1
Bart-Pumphrey Syndrome	8	3	2.6	Ear (44%)	1
Cooks Syndrome	5	3	2.6	Limbs (44%)	4
Endometriosis	7	3	2.6	Constitutional (44%)	2
Scimitar Syndrome	6	3	2.6	Cardiovascular (44%)	3
Parkinson's Disease	19	6	2.6	Nervous System (75%)	1
Biotin-Thiamine-Responsive Basal Ganglia Disease	15	5	2.6	Nervous System (72%)	2
Platelet-type Bleeding Disorder 16	14	5	2.6	Blood (72%)	3
Acute Myeloid Leukemia, FLT3-Mutated	6	3	2.6	Blood (57%)	1
Autosomal Recessive Nonsyndromic Hearing Loss 98	7	3	2.6	Ear (57%)	0
Czech dysplasia	5	3	2.6	Musculoskeletal (57%)	2
Ficolin 3 Deficiency	5	3	2.6	Immune (57%)	2
HOXC13-Related Pure Hair-Nail Ectodermal Dysplasia	7	3	2.6	Integument (57%)	0
Human Metapneumovirus Infection	5	3	2.6	Respiratory (57%)	2
Metaphyseal anadysplasia	5	3	2.6	Musculoskeletal (57%)	2
Osteogenesis Imperfecta Type VIII	5	3	2.6	Musculoskeletal (57%)	1
Retinitis Pigmentosa 59	16	4	2.6	Eye (65%)	1
Usher Syndrome Type 1	7	3	2.6	Eye (57%)	0
Spinocerebellar Ataxia Type 1	20	4	2.6	Nervous System (67%)	1
Autosomal Dominant Cerebellar Ataxia	17	4	2.6	Nervous System (63%)	2
Machado-Joseph Disease	14	4	2.6	Nervous System (69%)	2
Arterial Dissection-Lentiginosis Syndrome	5	3	2.6	Nervous System (60%)	0
Arthrogryposis Multiplex Congenita	5	3	2.6	Musculoskeletal (60%)	0
Autoimmune Enteropathy	5	3	2.6	Digestive (60%)	0
Autosomal Dominant Aplasia and Myelodysplasia	4	3	2.6	Blood (60%)	1
BRAF V600 Mutant Melanoma	3	3	2.6	Neoplasm (60%)	2
BRAF V600E-Mutant Non-Small Cell Lung Cancer	3	3	2.6	Neoplasm (60%)	2
Brittle Cornea Syndrome	10	3	2.6	Eye (60%)	0
Bronchiectasis With Or Without Elevated Sweat Chloride 1	4	3	2.6	Respiratory (60%)	1
COX6A2-Related COX Deficiency	4	3	2.6	Musculoskeletal (60%)	1
Campylobacteriosis	8	3	2.6	Digestive (60%)	1
Dental Caries	3	3	2.6	Head and Neck (60%)	2
Diabetic Retinopathy	6	3	2.6	Eye (60%)	2
Erythrokeratodermia Variabilis	3	3	2.6	Integument (60%)	2
Hereditary intrinsic factor deficiency	5	3	2.6	Blood (60%)	0
Hypokalemic Tubulopathy and Deafness	4	3	2.6	Metabolism (60%)	1
Intermediate Charcot-Marie-Tooth Disease	5	3	2.6	Nervous System (60%)	0
Isolated Glycerol Kinase Deficiency	5	3	2.6	Metabolism (60%)	0
Keratosis Pilaris Atrophicans	6	3	2.6	Integument (60%)	3
Klebsiella Pneumonia	3	3	2.6	Immune (60%)	2
Kummell Disease	4	3	2.6	Musculoskeletal (60%)	1
Microcytic Anemia With Liver Iron Overload	4	3	2.6	Metabolism (60%)	1
Microvillus Inclusion Disease	5	3	2.6	Digestive (60%)	0
Mitochondrial Complex I Deficiency, Nuclear Type 12	5	3	2.6	Nervous System (60%)	0
Nestor-Guillermo progeria syndrome	5	3	2.6	Musculoskeletal (60%)	0
Nevus of Ota	4	3	2.6	Eye (60%)	1
Osteogenesis Imperfecta Type XXI	4	3	2.6	Musculoskeletal (60%)	1
Pica	5	3	2.6	Nervous System (60%)	0
Pneumococcal Pneumonia	4	3	2.6	Respiratory (60%)	1
Psittacosis	4	3	2.6	Respiratory (60%)	1
RAB5C-Related Neurodevelopmental Disorder with Macrocephaly	4	3	2.6	Nervous System (60%)	1
Rhinovirus Infection	5	3	2.6	Respiratory (60%)	0
Rumination Disorder	4	3	2.6	Nervous System (60%)	1
Waardenburg Syndrome Type 2F	10	3	2.6	Integument (60%)	0
X-linked Mendelian Susceptibility to Mycobacterial Diseases due to CYBB Deficiency	4	3	2.6	Immune (60%)	1
Ebstein Anomaly	14	5	2.6	Cardiovascular (73%)	1
Neonatal Epileptic Encephalopathy Due to Glutaminase Deficiency	13	3	2.6	Nervous System (56%)	3
Congenital Myasthenic Syndrome 15	8	3	2.6	Musculoskeletal (50%)	2
Focal Segmental Glomerulosclerosis	8	3	2.6	Metabolism (50%)	2
Lynch Syndrome	10	3	2.6	Neoplasm (50%)	5
Acute Promyelocytic Leukemia, PML-RARA	9	4	2.6	Blood (70%)	1
Deafness-Dystonia-Optic Neuronopathy Syndrome	9	4	2.6	Nervous System (70%)	1
GALNT2-Congenital Disorder of Glycosylation	10	4	2.6	Nervous System (70%)	0
GFI1B-related platelet-type bleeding disorder	7	4	2.6	Blood (70%)	2
Leukoencephalopathy With Vanishing White Matter	9	4	2.6	Nervous System (70%)	1
Lymphangioleiomyomatosis	8	4	2.6	Respiratory (70%)	2
Twin to Twin Transfusion Syndrome	9	4	2.6	Prenatal and Birth (70%)	1
Hereditary Spastic Paraplegia 11	12	4	2.6	Nervous System (69%)	1
Primary Central Nervous System Lymphoma	11	4	2.6	Nervous System (69%)	2
Acute Myeloid Leukemia, NPM1-Mutated	7	3	2.6	Blood (56%)	2
Alopecia-Intellectual Disability Syndrome 1	6	3	2.6	Integument (56%)	3
Netherton syndrome	7	3	2.6	Integument (56%)	2
Otopalatodigital Spectrum Disorders	8	3	2.6	Musculoskeletal (56%)	1
SEPSECS Deficiency	6	3	2.6	Nervous System (56%)	2
GRIN1-Related Neurodevelopmental Disorder	19	5	2.5	Nervous System (73%)	2
Progressive Pseudorheumatoid Arthropathy of Childhood	13	4	2.5	Musculoskeletal (69%)	3
Acromesomelic Dysplasia PRKG2 Type	7	3	2.5	Musculoskeletal (55%)	4
Moyamoya Disease	7	3	2.5	Nervous System (55%)	3
Atrioventricular Septal Defect	16	4	2.5	Cardiovascular (71%)	1
CNGB1-Related Retinopathy	14	4	2.5	Eye (71%)	3
Dilated Cardiomyopathy 1A	15	4	2.5	Cardiovascular (71%)	2
Split Hand-Foot Malformation	7	3	2.5	Limbs (46%)	6
TUBB3-related Tubulinopathy	13	3	2.5	Nervous System (63%)	4
46,XY Sex Reversal 5	13	3	2.5	Genitourinary (62%)	3
Autosomal Recessive Congenital Ichthyosis	7	3	2.5	Integument (62%)	1
Carotid Artery Occlusion	6	3	2.5	Cardiovascular (62%)	2
Central Retinal Artery Occlusion	6	3	2.5	Eye (62%)	1
Dilated Cardiomyopathy 1GG	7	3	2.5	Cardiovascular (62%)	1
High Altitude Pulmonary Edema	6	3	2.5	Respiratory (62%)	2
Neuronal Ceroid Lipofuscinosis 7	8	3	2.5	Nervous System (62%)	0
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	8	3	2.5	Nervous System (62%)	0
TUBA4A-related Disorder	7	3	2.5	Nervous System (62%)	1
Acne Vulgaris	6	3	2.5	Integument (60%)	4
Acromesomelic Dysplasia Grebe Type	8	3	2.5	Musculoskeletal (50%)	6
Early-onset Generalized Limb-onset Dystonia	9	3	2.5	Nervous System (60%)	1
Fibromyalgia	10	3	2.5	Nervous System (60%)	0
Keratoderma Hereditarium Mutilans	8	3	2.5	Integument (60%)	2
Visual Snow Syndrome	13	3	2.5	Nervous System (50%)	1
46,XY Sex Reversal 11	16	4	2.5	Genitourinary (68%)	3
Developmental And Epileptic Encephalopathy 46	19	5	2.4	Nervous System (75%)	1
Paraneoplastic Cerebellar Degeneration	12	4	2.4	Nervous System (71%)	2
Spinocerebellar Ataxia Type 6	12	4	2.4	Nervous System (71%)	2
Multiple Synostoses Syndrome	8	3	2.4	Musculoskeletal (58%)	4
Spondyloepimetaphyseal Dysplasia Missouri Type	8	3	2.4	Musculoskeletal (58%)	4
DENND5A-Related Developmental and Epileptic Encephalopathy	18	4	2.4	Nervous System (71%)	2
PPM-X Syndrome	18	4	2.4	Nervous System (71%)	2
TUBB2A/TUBB2B-related Cortical Malformation	19	4	2.4	Nervous System (71%)	1
Genetic Developmental and Epileptic Encephalopathy	11	4	2.4	Nervous System (73%)	0
Hao-Fountain syndrome	11	4	2.4	Nervous System (73%)	0
Myocardial Infarction	10	4	2.4	Cardiovascular (73%)	1
ornithine aminotransferase deficiency	11	4	2.4	Eye (73%)	0
Optic Neuritis	13	4	2.4	Eye (72%)	5
Fuhrmann Syndrome	9	3	2.4	Musculoskeletal (53%)	6
Brachydactyly Type B1	9	3	2.4	Limbs (47%)	8
VAMP2-Related Neurodevelopmental Disorder	23	4	2.4	Nervous System (72%)	1
Childhood-Onset Striatonigral Degeneration	15	5	2.4	Nervous System (76%)	2
Familial Digital Arthropathy-Brachydactyly	10	3	2.4	Musculoskeletal (53%)	7
Bird Fancier's Lung	6	3	2.4	Respiratory (67%)	0
Charcot-Marie-Tooth Disease Type 1	6	3	2.4	Nervous System (67%)	0
Charcot-Marie-Tooth Disease-Hearing Loss-Intellectual Disability Syndrome	6	3	2.4	Nervous System (67%)	0
Coffin-Lowry syndrome	6	3	2.4	Nervous System (67%)	0
Congenital Hypofibrinogenemia	5	3	2.4	Blood (67%)	1
Contact Dermatitis	4	3	2.4	Integument (67%)	2
Episodic Ataxia	6	3	2.4	Nervous System (67%)	0
Focal Articular Cartilage Defect of the Knee	4	3	2.4	Musculoskeletal (67%)	2
Folliculitis	5	3	2.4	Integument (67%)	1
Hereditary Gingival Fibromatosis	5	3	2.4	Head and Neck (67%)	1
Hereditary Hyperferritinemia with Congenital Cataracts	6	3	2.4	Eye (67%)	0
Hereditary Neuropathy with Liability to Pressure Palsies	6	3	2.4	Nervous System (67%)	0
Hypersensitivity pneumonitis	5	3	2.4	Respiratory (67%)	1
Lichtenstein-Knorr Syndrome	6	3	2.4	Nervous System (67%)	0
NUP62-Related Infantile Bilateral Striatal Necrosis	5	3	2.4	Nervous System (67%)	1
Osteoporosis	5	3	2.4	Musculoskeletal (67%)	1
Panic Disorder	6	3	2.4	Nervous System (67%)	0
Parkinson Disease, Mitochondrial	6	3	2.4	Nervous System (67%)	0
Paroxysmal Familial Ventricular Fibrillation	4	3	2.4	Cardiovascular (67%)	2
Primary Lateral Sclerosis	4	3	2.4	Nervous System (67%)	2
SLC13A5 Citrate Transporter Disorder	11	3	2.4	Nervous System (67%)	1
TACO1-Related COX Deficiency	6	3	2.4	Nervous System (67%)	0
TUBG1-related Tubulinopathy	9	3	2.4	Nervous System (67%)	2
Urinary Bladder Small Cell Neuroendocrine Carcinoma	4	3	2.4	Genitourinary (67%)	2
MOGAD	13	3	2.4	Nervous System (67%)	2
Fibromuscular Dysplasia	10	3	2.4	Cardiovascular (62%)	3
Osteochondrosis	9	3	2.4	Musculoskeletal (62%)	4
Autosomal Recessive Ataxia Due to Ubiquinone Deficiency	15	4	2.4	Nervous System (73%)	0
L-2-Hydroxyglutaric Aciduria	15	4	2.4	Nervous System (72%)	3
Familial Sick Sinus Syndrome	8	3	2.3	Cardiovascular (67%)	1
MED17-Related Disorder	6	3	2.3	Nervous System (67%)	2
Nontuberculous Mycobacterial Lung Disease	9	3	2.3	Respiratory (67%)	0
Rhabdoid Tumor Predisposition Syndrome 1	6	3	2.3	Neoplasm (67%)	3
Thunderstorm Asthma	7	3	2.3	Respiratory (67%)	2
KLHL24-Related Hypertrophic Cardiomyopathy	15	5	2.3	Cardiovascular (78%)	3
Atrial Septal Defect	11	4	2.3	Cardiovascular (75%)	1
Autosomal Recessive Non-Syndromic Intellectual Disability	10	4	2.3	Nervous System (75%)	1
Epidermolytic Hyperkeratosis 2	11	4	2.3	Integument (75%)	1
Panuveitis	9	4	2.3	Eye (75%)	3
Spinocerebellar Ataxia Type 8	10	4	2.3	Nervous System (75%)	2
Tetrahydrobiopterin Deficiency	11	4	2.3	Nervous System (75%)	1
Brachydactyly Type A1	14	3	2.3	Musculoskeletal (50%)	10
Ataxia With Oculomotor Apraxia Type 1	15	3	2.3	Nervous System (69%)	1
THG1L-Related Disorder	10	3	2.3	Nervous System (69%)	2
Hyperprolinemia Type 2	13	3	2.3	Nervous System (64%)	1
Nasu-Hakola Disease	12	3	2.3	Nervous System (64%)	2
Brain arteriovenous malformation	8	3	2.3	Nervous System (67%)	3
Oculocutaneous Albinism	11	3	2.3	Eye (67%)	1
Dilated Cardiomyopathy 1P	14	4	2.3	Cardiovascular (75%)	2
Basal Cell Carcinoma	7	3	2.2	Integument (70%)	3
Combined Oxidative Phosphorylation Defect Type 15	8	3	2.2	Nervous System (70%)	1
Familial Long QT Syndrome	8	3	2.2	Cardiovascular (70%)	2
NDE1-related Microcephaly-Lissencephaly	8	3	2.2	Nervous System (70%)	1
Neuronal Ceroid Lipofuscinosis 2	9	3	2.2	Nervous System (70%)	1
Porokeratosis	7	3	2.2	Integument (70%)	3
Silicosis	9	3	2.2	Respiratory (70%)	1
Traveler's Diarrhea	10	3	2.2	Digestive (70%)	1
Asherman_Syndrome	7	3	2.2	Genitourinary (71%)	0
Auto-Brewery Syndrome	7	3	2.2	Nervous System (71%)	0
Autosomal Dominant Cerebellar Ataxia Type III	6	3	2.2	Nervous System (71%)	1
Bronchopulmonary Dysplasia	6	3	2.2	Respiratory (71%)	1
Brugada syndrome	5	3	2.2	Cardiovascular (71%)	2
Eosinophilic Esophagitis	5	3	2.2	Digestive (71%)	2
Generalized Anxiety Disorder	7	3	2.2	Nervous System (71%)	0
Genital Lichen Sclerosus	7	3	2.2	Genitourinary (71%)	0
Hyperkalemic Periodic Paralysis	6	3	2.2	Musculoskeletal (71%)	1
IFNAR1 Deficiency	5	3	2.2	Immune (71%)	2
Ischemic Stroke	5	3	2.2	Nervous System (71%)	2
Koolen-de Vries syndrome	7	3	2.2	Nervous System (71%)	0
Late Complement Component Deficiency	6	3	2.2	Immune (71%)	1
MED27-Related Disorder	6	3	2.2	Nervous System (71%)	1
Malignant Peritoneal Mesothelioma	6	3	2.2	Digestive (71%)	1
Metachromatic Leukodystrophy	6	3	2.2	Nervous System (71%)	1
Migraine with aura	6	3	2.2	Nervous System (71%)	1
Myelodysplastic Syndrome	5	3	2.2	Blood (71%)	2
Osteogenesis Imperfecta Type XXII	6	3	2.2	Musculoskeletal (71%)	1
PLS3-Related X-Linked Osteoporosis	7	3	2.2	Musculoskeletal (71%)	0
Parainfluenza Virus Infection	6	3	2.2	Respiratory (71%)	1
Progressive Familial Heart Block	5	3	2.2	Cardiovascular (71%)	2
SYT1-Associated Neurodevelopmental Disorder	7	3	2.2	Nervous System (71%)	0
Schnyder Corneal Dystrophy	6	3	2.2	Eye (71%)	1
Striate Palmoplantar Keratoderma Type 2	12	3	2.2	Integument (71%)	2
TUBB/TUBB5-related Microcephaly	5	3	2.2	Nervous System (71%)	1
Tooth Agenesis	6	3	2.2	Head and Neck (71%)	1
Usher Syndrome Type 4	6	3	2.2	Eye (71%)	1
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency	13	4	2.2	Genitourinary (77%)	0
Intellectual Disability X-linked 100	11	4	2.2	Nervous System (77%)	1
Hypertrophic Cardiomyopathy 3	14	4	2.2	Cardiovascular (76%)	3
UGDH-related developmental and epileptic encephalopathy 84	15	4	2.2	Nervous System (76%)	2
Traumatic Brain Injury	11	3	2.1	Nervous System (73%)	2
Familial Vesicoureteral Reflux	16	4	2.1	Genitourinary (78%)	2
Manganism	17	4	2.1	Nervous System (78%)	1
Autosomal Recessive Spinocerebellar Ataxia 15	23	4	2.1	Nervous System (76%)	2
Cone-rod dystrophy and hearing loss 2	10	3	2.1	Eye (73%)	1
Developmental Delay, Hypotonia, Musculoskeletal Defects, and Behavioral Abnormalities	11	3	2.1	Nervous System (73%)	0
Developmental and Epileptic Encephalopathy 116	10	3	2.1	Nervous System (73%)	1
KATNB1-related Cortical Malformation	9	3	2.1	Nervous System (73%)	1
Oculomotor Nerve Palsy	10	3	2.1	Eye (73%)	1
RYR2 CPVT	9	3	2.1	Cardiovascular (73%)	2
Spinocerebellar Ataxia Type 23	10	3	2.1	Nervous System (73%)	1
Spondyloepimetaphyseal Dysplasia Maroteaux Type	9	3	2.1	Musculoskeletal (73%)	2
Developmental and Epileptic Encephalopathy 55	11	3	2.1	Nervous System (71%)	2
Distal Myopathy 7, Adult-Onset, X-Linked	10	3	2.1	Musculoskeletal (71%)	4
Spastic Paraplegia 89 Autosomal Recessive	11	3	2.1	Nervous System (71%)	2
Spinocerebellar Ataxia Type 2	13	3	2.1	Nervous System (71%)	1
Autosomal Dominant Mendelian Susceptibility To Mycobacterial Diseases Due To Partial IFNgammaR1 Deficiency	11	4	2.1	Immune (79%)	3
Autosomal Dominant Sensory Ataxia 1	13	4	2.1	Nervous System (79%)	1
Brody Myopathy	14	4	2.1	Musculoskeletal (79%)	0
Exfoliation Syndrome	14	4	2.1	Eye (79%)	0
Neuronal Intranuclear Inclusion Disease	14	4	2.1	Nervous System (79%)	0
CADASIL Type 1	12	3	2.1	Nervous System (71%)	4
Syndromic X-linked Intellectual Disability 94	27	4	2.1	Nervous System (76%)	2
Byssinosis	7	3	2.1	Respiratory (75%)	1
Corneal Dystrophy	6	3	2.1	Eye (75%)	2
Dilated Cardiomyopathy 1II	7	3	2.1	Cardiovascular (75%)	1
Disorder of Catecholamine Synthesis	8	3	2.1	Nervous System (75%)	0
Epidermolysis Bullosa Simplex	7	3	2.1	Integument (75%)	1
Keratoconus	6	3	2.1	Eye (75%)	2
Left ventricular noncompaction	6	3	2.1	Cardiovascular (75%)	2
Major Depressive Disorder	8	3	2.1	Nervous System (75%)	0
Postpartum Depression	8	3	2.1	Nervous System (75%)	0
X-Linked Spondyloepiphyseal Dysplasia Tarda	6	3	2.1	Musculoskeletal (75%)	2
X-linked Dilated Cardiomyopathy	7	3	2.1	Cardiovascular (75%)	1
GRIN2A-Related Epileptic Encephalopathy and Intellectual Disability	18	4	2.1	Nervous System (79%)	1
SLC1A2-Related Developmental and Epileptic Encephalopathy	17	3	2.1	Nervous System (72%)	1
Spinocerebellar Ataxia 48	21	5	2.1	Nervous System (82%)	1
PARK7-Related Early-Onset Parkinson Disease	11	3	2.1	Nervous System (75%)	1
Mitochondrial Complex I Deficiency Nuclear Type 21	14	4	2.1	Nervous System (80%)	1
RHOBTB2-Related Developmental and Epileptic Encephalopathy	13	4	2.1	Nervous System (80%)	1
ATP6V0C-Related Epilepsy	28	4	2.1	Nervous System (79%)	1
Alveolar Rhabdomyosarcoma	2	2	2.0	Eye (50%)	0
Amelogenesis Imperfecta	4	2	2.0	Head and Neck (50%)	4
Arteriosclerotic Retinopathy	1	2	2.0	Cardiovascular (50%)	1
Autosomal Recessive Cerebellar Ataxia-Saccadic Intrusion Syndrome	6	2	2.0	Eye (50%)	0
Autosomal Recessive Nonsyndromic Hearing Loss 102	2	2	2.0	Ear (50%)	0
Bacterial Vaginosis	2	2	2.0	Genitourinary (50%)	0
Brachydactyly Type C	7	2	2.0	Limbs (50%)	7
Brachydactyly Type D	5	2	2.0	Limbs (50%)	5
Carotid web	3	2	2.0	Cardiovascular (50%)	3
Constitutional Megaloblastic Anemia With Severe Neurologic Disease	4	2	2.0	Blood (50%)	0
Cutaneous collagenous vasculopathy	3	2	2.0	Cardiovascular (50%)	3
Darier Disease	6	2	2.0	Integument (50%)	0
Dental Fluorosis	3	2	2.0	Head and Neck (50%)	3
Dermatofibrosarcoma Protuberans	2	2	2.0	Integument (50%)	0
Developmental Stuttering	2	2	2.0	Constitutional (50%)	0
Distal Hereditary Motor Neuronopathy Type 9	4	2	2.0	Musculoskeletal (50%)	0
Dorsalgia	1	2	2.0	Constitutional (50%)	1
Furunculosis	2	2	2.0	Immune (50%)	2
HAO1-Related Glycolate Oxidase Deficiency	1	2	2.0	Genitourinary (50%)	1
IRIDA Syndrome	8	2	2.0	Blood (50%)	0
Isolated Sedoheptulokinase Deficiency	2	2	2.0	Genitourinary (50%)	2
Juvenile Temporal Arteritis	2	2	2.0	Integument (50%)	0
Lone Star Virus Infection	1	2	2.0	Immune (50%)	1
MYO6_Hearing_Loss	4	2	2.0	Cardiovascular (50%)	0
Mesomelia-Synostoses Syndrome	2	2	2.0	Limbs (50%)	2
Mesomelic Dysplasia, Savarirayan Type	3	2	2.0	Limbs (50%)	3
Mitochondrial Complex I Deficiency, Nuclear Type 24	1	2	2.0	Cellular (50%)	1
Mitochondrial Spastic Paraplegia	2	2	2.0	Musculoskeletal (50%)	2
Multiple Epiphyseal Dysplasia, Al-Gazali Type	3	2	2.0	Head and Neck (50%)	1
NTRK Fusion-Positive Cancer	2	2	2.0	Constitutional (50%)	0
Niemann-Pick Disease Type E	2	2	2.0	Digestive (50%)	0
Polycystic Kidney Disease 3	2	2	2.0	Digestive (50%)	0
Post-SSRI Sexual Dysfunction	9	2	2.0	Genitourinary (50%)	1
Post-Traumatic Epilepsy	2	2	2.0	Metabolism (50%)	0
Preaxial Digit Brachydactyly-Webbed Fingers	3	2	2.0	Limbs (50%)	3
RAB33B-Related Smith-McCort Dysplasia 2	2	2	2.0	Growth (50%)	0
Soil-transmitted helminthiases	2	2	2.0	Blood (50%)	0
Thymus Neoplasm	4	2	2.0	Blood (50%)	0
Verruga Peruana	2	2	2.0	Constitutional (50%)	0
ZRS-Related Limb Malformation	12	2	2.0	Limbs (50%)	12
Brachydactyly Type A2	11	2	2.0	Musculoskeletal (52%)	10
Brachydactyly Type B2	7	2	2.0	Musculoskeletal (54%)	6
Du Pan Syndrome	7	2	2.0	Musculoskeletal (54%)	6
Hypertrophic Cardiomyopathy 8	14	4	2.0	Cardiovascular (81%)	2
TUBA1A-related Tubulinopathy	14	4	2.0	Nervous System (81%)	2
Autosomal Recessive Primary Microcephaly	10	3	2.0	Nervous System (77%)	2
L1 Syndrome	11	3	2.0	Nervous System (77%)	2
MEPAN Syndrome	9	2	2.0	Nervous System (56%)	0
Premenstrual Dysphoric Disorder	13	3	2.0	Nervous System (77%)	0
SZT2-Related Developmental and Epileptic Encephalopathy	12	3	2.0	Nervous System (77%)	1
Viral Encephalitis	11	3	2.0	Nervous System (77%)	2
Choroiditis	17	4	2.0	Eye (81%)	4
46,XX testicular disorder of sex development	8	3	2.0	Genitourinary (78%)	1
Alternating Hemiplegia of Childhood	9	3	2.0	Nervous System (78%)	0
Corticobasal Syndrome	9	3	2.0	Nervous System (78%)	0
Dilated Cardiomyopathy 2A	8	3	2.0	Cardiovascular (78%)	1
KRT1 Keratinopathies	7	3	2.0	Integument (78%)	2
Neurodevelopmental Disorder with Hypotonia and Speech Delay, With or Without Seizures	9	3	2.0	Nervous System (78%)	0
Short QT Syndrome	7	3	2.0	Cardiovascular (78%)	2
Torsade de Pointes Syndrome With Short Coupling Interval	7	3	2.0	Cardiovascular (78%)	2
neuroferritinopathy	8	3	2.0	Nervous System (78%)	1
Auditory Neuropathy	7	2	2.0	Nervous System (57%)	0
Immunodeficiency 74, COVID-19-Related, X-Linked	5	2	2.0	Respiratory (57%)	2
KIT Mutant Melanoma	4	2	2.0	Neoplasm (57%)	3
MUTYH-Associated Polyposis	4	2	2.0	Neoplasm (57%)	3
Membranous nephropathy	6	2	2.0	Metabolism (57%)	1
Neutrophil Immunodeficiency Syndrome	4	2	2.0	Immune (57%)	3
Pendred Syndrome	7	2	2.0	Ear (57%)	0
Congenital Renal Artery Stenosis	4	2	2.0	Cardiovascular (60%)	1
Dilated Cardiomyopathy 1J	5	2	2.0	Cardiovascular (60%)	0
Maleylacetoacetate Isomerase Deficiency	3	2	2.0	Metabolism (60%)	2
TRIM28-Related Wilms Tumor Predisposition	3	2	2.0	Genitourinary (60%)	2
Transient Neonatal Pustular Melanosis	3	2	2.0	Integument (60%)	2
Usher Syndrome Type 3	5	2	2.0	Eye (60%)	0
Autosomal Recessive Nonsyndromic Hearing Loss 32	8	2	1.9	Genitourinary (62%)	0
Erb Palsy	5	2	1.9	Musculoskeletal (62%)	3
Leber-like Hereditary Optic Neuropathy, Autosomal Recessive 1	8	2	1.9	Eye (62%)	0
Autosomal Dominant Dopa-Responsive Dystonia	13	3	1.9	Nervous System (79%)	1
Pinta	12	3	1.9	Integument (79%)	2
Primary Cutaneous Amyloidosis	11	2	1.9	Integument (64%)	0
ANK2-Related Complex Neurodevelopmental Disorder	8	3	1.9	Nervous System (80%)	1
Asbestosis	9	3	1.9	Respiratory (80%)	1
Bronchiectasis	9	3	1.9	Respiratory (80%)	1
Duane Retraction Syndrome	10	3	1.9	Eye (80%)	0
Fuchs Endothelial Corneal Dystrophy	9	3	1.9	Eye (80%)	1
Hypertrophic Cardiomyopathy 26	9	3	1.9	Cardiovascular (80%)	1
KCNA2-Related Developmental and Epileptic Encephalopathy	8	3	1.9	Nervous System (80%)	1
LRRK2-Related Parkinson Disease	10	3	1.9	Nervous System (80%)	0
Li-Ghorbani-Weisz-Hubshman Syndrome	10	3	1.9	Nervous System (80%)	0
Mitral Valve Prolapse	8	3	1.9	Cardiovascular (80%)	2
Peroxisome Biogenesis Disorder 8B	9	3	1.9	Nervous System (80%)	1
Posterior Polymorphous Corneal Dystrophy	9	3	1.9	Eye (80%)	1
Autosomal Recessive Nonsyndromic Hearing Loss 70	3	2	1.9	Ear (67%)	0
Autosomal Recessive Nonsyndromic Hearing Loss 97	3	2	1.9	Ear (67%)	0
Blepharophimosis-Impaired Intellectual Development Syndrome	6	2	1.9	Head and Neck (67%)	0
CKD-Mineral Bone Disorder	5	2	1.9	Musculoskeletal (67%)	1
COXFA4-Related COX Deficiency	3	2	1.9	Nervous System (67%)	0
Catamenial Pneumothorax	6	2	1.9	Respiratory (67%)	0
Cataract 13 With Adult I Phenotype	3	2	1.9	Eye (67%)	0
Chagas disease	9	2	1.9	Cardiovascular (67%)	0
Chemotherapy-Induced Neutropenia	2	2	1.9	Immune (67%)	1
Combined Malonic and Methylmalonic Aciduria	3	2	1.9	Nervous System (67%)	0
Coronary Artery Disease	3	2	1.9	Cardiovascular (67%)	0
Dilated Cardiomyopathy 1I	3	2	1.9	Cardiovascular (67%)	0
Ethmoid Sinus Adenocarcinoma	2	2	1.9	Head and Neck (67%)	1
Familial Renal Glucosuria	2	2	1.9	Metabolism (67%)	1
Hearing Loss Autosomal Dominant 83	3	2	1.9	Ear (67%)	0
Hearing Loss Autosomal Recessive 108	3	2	1.9	Ear (67%)	0
Hepatitis D	2	2	1.9	Digestive (67%)	1
Hepatitis E	2	2	1.9	Digestive (67%)	1
Hereditary Sensory and Autonomic Neuropathy	6	2	1.9	Nervous System (67%)	0
Hypotrichosis 4	9	2	1.9	Integument (67%)	3
Jet Lag	6	2	1.9	Nervous System (67%)	0
Konzo	6	2	1.9	Nervous System (67%)	3
Leber Congenital Amaurosis with Early-Onset Deafness	3	2	1.9	Eye (67%)	0
MSI-High Endometrial Cancer	3	2	1.9	Constitutional (67%)	0
Osteoarthritis	3	2	1.9	Musculoskeletal (67%)	0
PIK3CA-Mutant Breast Cancer	2	2	1.9	Neoplasm (67%)	1
Posterior Myocardial Infarction	3	2	1.9	Cardiovascular (67%)	0
Pre-Descemet Corneal Dystrophy	3	2	1.9	Eye (67%)	0
Primary Cutaneous Aggressive Epidermotropic CD8+ T-cell Lymphoma	3	2	1.9	Integument (67%)	0
SLC26A6-Related Hyperoxaluria and Nephrolithiasis	2	2	1.9	Genitourinary (67%)	1
Scabies	2	2	1.9	Integument (67%)	1
Spasmodic Dysphonia	5	2	1.9	Voice (67%)	1
Subacute Inflammatory Demyelinating Polyneuropathy	3	2	1.9	Nervous System (67%)	0
Tooth and Nail Syndrome	6	2	1.9	Head and Neck (67%)	0
Trichotillomania	3	2	1.9	Nervous System (67%)	0
Familial Sleep-Related Hypermotor Epilepsy	17	4	1.9	Nervous System (83%)	1
Gerstmann-Straussler-Scheinker Syndrome	16	4	1.9	Nervous System (83%)	2
Congenital Glaucoma	13	3	1.9	Eye (80%)	2
Coronary Artery Congenital Malformation	13	3	1.9	Cardiovascular (80%)	2
Early-Infantile Developmental and Epileptic Encephalopathy	13	3	1.9	Nervous System (80%)	1
SLC6A1-Related Neurodevelopmental Disorder	15	3	1.9	Nervous System (80%)	0
Developmental And Epileptic Encephalopathy 16	19	4	1.8	Nervous System (84%)	0
Salla Disease	15	3	1.8	Nervous System (81%)	1
Aminoacylase 1 Deficiency	11	3	1.8	Nervous System (82%)	0
Benign Neonatal Seizures	11	3	1.8	Nervous System (82%)	0
CASQ2 CPVT	9	3	1.8	Cardiovascular (82%)	2
Cardiac Sarcoidosis	9	3	1.8	Cardiovascular (82%)	2
Cerebellar Ataxia, Intellectual Disability, and Dysequilibrium Syndrome	11	3	1.8	Nervous System (82%)	0
Dilated Cardiomyopathy 1CC	10	3	1.8	Cardiovascular (82%)	1
Dilated Cardiomyopathy 2B	9	3	1.8	Cardiovascular (82%)	2
Hypertrophic Cardiomyopathy 10	10	3	1.8	Cardiovascular (82%)	1
Idiopathic Interstitial Pneumonia	10	3	1.8	Respiratory (82%)	1
arrhythmogenic right ventricular cardiomyopathy	9	3	1.8	Cardiovascular (82%)	2
Camptodactyly	5	2	1.8	Musculoskeletal (71%)	2
Dopa-Responsive Dystonia	6	2	1.8	Nervous System (71%)	1
Irritable Bowel Syndrome	6	2	1.8	Digestive (71%)	1
KRT74-Related Pure Hair-Nail Ectodermal Dysplasia	6	2	1.8	Integument (71%)	1
Neuronal Ceroid Lipofuscinosis	7	2	1.8	Nervous System (71%)	0
Succinic Semialdehyde Dehydrogenase Deficiency	21	4	1.8	Nervous System (86%)	0
Autosomal dominant striatal neurodegeneration	11	3	1.8	Nervous System (83%)	1
Cardiac Arrhythmia, Ankyrin-B-Related	10	3	1.8	Cardiovascular (83%)	2
Congenital Sucrase-Isomaltase Deficiency	11	3	1.8	Digestive (83%)	1
Developmental and Epileptic Encephalopathy 81	12	3	1.8	Nervous System (83%)	0
Early-Onset Autosomal Dominant Alzheimer Disease	12	3	1.8	Nervous System (83%)	0
GNAO1-Related Developmental and Epileptic Encephalopathy	12	3	1.8	Nervous System (83%)	0
Hypertrophic Cardiomyopathy 1	10	3	1.8	Cardiovascular (83%)	2
Hypertrophic Cardiomyopathy 7	10	3	1.8	Cardiovascular (83%)	2
TCF20-Associated Neurodevelopmental Disorder	12	3	1.8	Nervous System (83%)	0
TTC19-related mitochondrial complex III deficiency	12	3	1.8	Nervous System (83%)	0
Agoraphobia	4	2	1.8	Nervous System (75%)	0
Ameloblastoma	3	2	1.8	Head and Neck (75%)	1
Autosomal Dominant Nonsyndromic Hearing Loss 41	4	2	1.8	Ear (75%)	0
Autosomal Recessive Nonsyndromic Hearing Loss 77	8	2	1.8	Ear (75%)	0
Binge Eating Disorder	4	2	1.8	Nervous System (75%)	0
Chemotherapy-Induced Nausea and Vomiting	4	2	1.8	Digestive (75%)	0
Choroid Plexus Carcinoma	4	2	1.8	Nervous System (75%)	0
DNM1 Encephalopathy	4	2	1.8	Nervous System (75%)	0
Deployment-Related Constrictive Bronchiolitis	4	2	1.8	Respiratory (75%)	0
Dilated Cardiomyopathy 1R	4	2	1.8	Cardiovascular (75%)	0
ER-Positive Breast Cancer	3	2	1.8	Neoplasm (75%)	1
Familial Atrial Fibrillation	3	2	1.8	Cardiovascular (75%)	1
Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine	4	2	1.8	Nervous System (75%)	0
HER2-Positive Breast Cancer	3	2	1.8	Neoplasm (75%)	1
Hereditary Spastic Paraplegia 48	6	2	1.8	Nervous System (75%)	2
Hospital-Acquired Acute Kidney Injury	7	2	1.8	Metabolism (75%)	1
Hypertrophic Cardiomyopathy 13	3	2	1.8	Cardiovascular (75%)	1
Hypertrophic Cardiomyopathy 9	3	2	1.8	Cardiovascular (75%)	1
Mercury Poisoning	4	2	1.8	Nervous System (75%)	0
Osteogenesis Imperfecta Type XXIII	6	2	1.8	Musculoskeletal (75%)	2
Pemphigus Erythematosus	3	2	1.8	Integument (75%)	1
Primary Hyperoxaluria Type 3	3	2	1.8	Genitourinary (75%)	1
Schinzel-Giedion syndrome	4	2	1.8	Nervous System (75%)	0
Skin Fragility-Woolly Hair Syndrome	3	2	1.8	Integument (75%)	1
Thiopurine S-methyltransferase Deficiency	3	2	1.8	Blood (75%)	1
Triple-Negative Breast Cancer	3	2	1.8	Neoplasm (75%)	1
Usmani-Riazuddin Syndrome, Autosomal Recessive	7	2	1.8	Nervous System (75%)	1
Uveal Melanoma	3	2	1.8	Eye (75%)	1
ADGRG1-related Bilateral Frontoparietal Polymicrogyria	13	3	1.7	Nervous System (85%)	0
CRB1 Retinal Dystrophies	11	3	1.7	Eye (85%)	1
Microphthalmia with Coloboma	13	3	1.7	Eye (85%)	0
NR5A1-related sex development disorder	12	3	1.7	Genitourinary (85%)	1
PKP2_Cardiomyopathy	11	3	1.7	Cardiovascular (85%)	2
Hypertrophic Cardiomyopathy 30, Atrial	9	2	1.7	Cardiovascular (78%)	0
FICUS syndrome	14	2	1.7	Nervous System (79%)	0
Autosomal Dominant Cerebellar Ataxia Deafness and Narcolepsy	20	3	1.7	Nervous System (85%)	0
CN-Related Developmental and Epileptic Encephalopathy	14	3	1.7	Nervous System (86%)	0
Leber Congenital Amaurosis 9	13	3	1.7	Eye (86%)	1
Myoclonus-Dystonia Syndrome	12	3	1.7	Nervous System (86%)	1
SYNGAP1-Related Developmental and Epileptic Encephalopathy	14	3	1.7	Nervous System (86%)	0
TUBA8-related Polymicrogyria with Optic Nerve Hypoplasia	13	3	1.7	Nervous System (86%)	1
Acute Respiratory Distress Syndrome	4	2	1.6	Respiratory (80%)	1
Autosomal Dominant Nonsyndromic Hearing Loss 4B	5	2	1.6	Ear (80%)	0
Childhood Occipital Visual Epilepsy	5	2	1.6	Nervous System (80%)	0
Developmental And Epileptic Encephalopathy 40	5	2	1.6	Nervous System (80%)	0
Diffuse Midline Glioma, H3 K27-Altered	5	2	1.6	Nervous System (80%)	0
FGF12-Related Developmental and Epileptic Encephalopathy	5	2	1.6	Nervous System (80%)	0
Hearing Loss Autosomal Dominant 75	5	2	1.6	Ear (80%)	0
Hereditary Spastic Paraplegia 44	4	2	1.6	Nervous System (80%)	1
Hypertrophic Cardiomyopathy 11	4	2	1.6	Cardiovascular (80%)	1
Hypertrophic Cardiomyopathy 20	4	2	1.6	Cardiovascular (80%)	1
KRT85-Related Pure Hair-Nail Ectodermal Dysplasia	4	2	1.6	Integument (80%)	1
Krabbe Disease Due To Saposin A Deficiency	5	2	1.6	Nervous System (80%)	0
Leber Congenital Amaurosis 10	9	2	1.6	Eye (80%)	1
Meniere's Disease	5	2	1.6	Ear (80%)	0
Mobitz Type I Atrioventricular Block	4	2	1.6	Cardiovascular (80%)	1
Mycosis Fungoides	4	2	1.6	Integument (80%)	1
Pediatric Acute-onset Neuropsychiatric Syndrome	5	2	1.6	Nervous System (80%)	0
Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal Infections	5	2	1.6	Nervous System (80%)	0
Primary Hyperoxaluria Type 1	4	2	1.6	Genitourinary (80%)	1
Primary Hyperoxaluria Type 2	4	2	1.6	Genitourinary (80%)	1
Primary Triglyceride Deposit Cardiomyovasculopathy	5	2	1.6	Cardiovascular (80%)	0
Progressive Cardiac Conduction Disease	4	2	1.6	Cardiovascular (80%)	1
RPE65-Related Retinopathy	9	2	1.6	Eye (80%)	1
Retrograde Cricopharyngeus Dysfunction	5	2	1.6	Digestive (80%)	0
SNAP25-Related Developmental and Epileptic Encephalopathy	5	2	1.6	Nervous System (80%)	0
STAT2 Deficiency	4	2	1.6	Immune (80%)	1
Stiff Skin Syndrome	5	2	1.6	Integument (80%)	0
TUBB1-related Macrothrombocytopenia	5	2	1.6	Blood (80%)	0
Taeniasis/cysticercosis	4	2	1.6	Nervous System (80%)	1
Thomsen and Becker disease	5	2	1.6	Musculoskeletal (80%)	0
Thoracic Aortic Aneurysm	10	2	1.6	Cardiovascular (80%)	0
UV-Sensitive Syndrome	4	2	1.6	Integument (80%)	1
Neurodevelopmental Disorder with Early-Onset Parkinsonism and Behavioral Abnormalities	27	3	1.6	Nervous System (86%)	1
Autosomal Dominant Nonsyndromic Hearing Loss 9	15	3	1.6	Ear (87%)	0
FOLR1-Related Cerebral Folate Transport Deficiency	13	3	1.6	Nervous System (87%)	1
Atrial Standstill	9	2	1.6	Cardiovascular (82%)	2
Coal Workers Pneumoconiosis	10	2	1.6	Respiratory (82%)	1
Hypomyelinating Leukodystrophy 27	9	2	1.6	Nervous System (82%)	2
Juvenile Neuronal Ceroid Lipofuscinosis	11	2	1.6	Nervous System (82%)	0
SLC25A12-Related Developmental and Epileptic Encephalopathy	10	2	1.6	Nervous System (82%)	1
Atypical Teratoid/Rhabdoid Tumor	6	2	1.6	Nervous System (83%)	0
COX20-Related COX Deficiency	6	2	1.6	Nervous System (83%)	0
Chronic Intestinal Pseudoobstruction	6	2	1.6	Digestive (83%)	0
DEPDC5-Related Epilepsy	6	2	1.6	Nervous System (83%)	0
Essential Tremor	6	2	1.6	Nervous System (83%)	0
Familial Progressive Hyperpigmentation With Or Without Hypopigmentation	6	2	1.6	Integument (83%)	0
Glaucoma	5	2	1.6	Eye (83%)	1
Hemiconvulsion-Hemiplegia-Epilepsy Syndrome	5	2	1.6	Nervous System (83%)	1
Hyperprolinemia Type 1	6	2	1.6	Nervous System (83%)	0
Hypertrophic Cardiomyopathy 21	5	2	1.6	Cardiovascular (83%)	1
Idiopathic Spontaneous Coronary Artery Dissection	6	2	1.6	Cardiovascular (83%)	0
Jeavons Syndrome	6	2	1.6	Nervous System (83%)	0
KCNQ2 Developmental and Epileptic Encephalopathy	6	2	1.6	Nervous System (83%)	0
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete IL12B Deficiency	5	2	1.6	Immune (83%)	1
Neuronal Ceroid Lipofuscinosis 1	6	2	1.6	Nervous System (83%)	0
Nizon-Isidor Syndrome	6	2	1.6	Nervous System (83%)	0
Patent Ductus Arteriosus 3	5	2	1.6	Cardiovascular (83%)	1
Pemphigus Foliaceus	5	2	1.6	Integument (83%)	1
Photosensitive Occipital Lobe Epilepsy	6	2	1.6	Nervous System (83%)	0
Primary Progressive Apraxia of Speech	5	2	1.6	Nervous System (83%)	1
Progressive Myoclonus Epilepsy	6	2	1.6	Nervous System (83%)	0
Stromal Corneal Dystrophy	5	2	1.6	Eye (83%)	1
Trehalase Deficiency	5	2	1.6	Digestive (83%)	1
Hereditary Diffuse Leukoencephalopathy with Spheroids	11	2	1.5	Nervous System (85%)	2
Advanced Sleep Phase Syndrome	6	2	1.5	Nervous System (86%)	1
Autosomal Dominant Cerebellar Ataxia Type I	7	2	1.5	Nervous System (86%)	0
Autosomal Dominant Non-Syndromic Intellectual Disability	7	2	1.5	Nervous System (86%)	0
Autosomal Recessive Nonsyndromic Hearing Loss 35	7	2	1.5	Ear (86%)	0
Autosomal Recessive Nonsyndromic Hearing Loss 93	7	2	1.5	Ear (86%)	0
Childhood Absence Epilepsy	6	2	1.5	Nervous System (86%)	1
Chronic Lymphocytic Inflammation With Pontine Perivascular Enhancement Responsive To Steroids	7	2	1.5	Nervous System (86%)	0
Conduct Disorder	7	2	1.5	Nervous System (86%)	0
Delayed Sleep Phase Syndrome	6	2	1.5	Nervous System (86%)	1
Dextro-Transposition of the Great Arteries	7	2	1.5	Cardiovascular (86%)	0
Dowling-Degos Disease	6	2	1.5	Integument (86%)	1
EEFSEC Deficiency	6	2	1.5	Nervous System (86%)	1
FLNC-Related Dilated Cardiomyopathy	6	2	1.5	Cardiovascular (86%)	1
Infantile Spasms	7	2	1.5	Nervous System (86%)	0
MYPN-Related Cardiomyopathy	7	2	1.5	Cardiovascular (86%)	0
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete IL12RB1 Deficiency	6	2	1.5	Immune (86%)	1
Optic Atrophy 14	6	2	1.5	Eye (86%)	1
PNPO Deficiency	7	2	1.5	Nervous System (86%)	0
Platelet-type Bleeding Disorder 15	7	2	1.5	Blood (86%)	0
Respiratory Syncytial Virus Infection	7	2	1.5	Respiratory (86%)	0
Spastic Ataxia	6	2	1.5	Nervous System (86%)	1
Spinocerebellar Ataxia Type 15/16	7	2	1.5	Nervous System (86%)	0
Tyrosinemia Type III	7	2	1.5	Nervous System (86%)	0
Undetermined Early-Onset Epileptic Encephalopathy	7	2	1.5	Nervous System (86%)	0
Usher Syndrome Type 2	7	2	1.5	Eye (86%)	0
Lafora_Disease	19	3	1.5	Nervous System (90%)	1
Adult-Type Hypolactasia	7	2	1.5	Digestive (88%)	1
Autoimmune Encephalitis	8	2	1.5	Nervous System (88%)	0
Autosomal dominant Charcot-Marie-Tooth disease type 2W	8	2	1.5	Nervous System (88%)	0
Coarctation of the Aorta	7	2	1.5	Cardiovascular (88%)	1
Cone Dystrophy	7	2	1.5	Eye (88%)	1
Coronary Vasospasm	7	2	1.5	Cardiovascular (88%)	1
Creatine Transporter Deficiency	8	2	1.5	Nervous System (88%)	0
Dentin Dysplasia Type II	7	2	1.5	Head and Neck (88%)	1
Dilated Cardiomyopathy 1FF	7	2	1.5	Cardiovascular (88%)	1
Dilated Cardiomyopathy 1W	8	2	1.5	Cardiovascular (88%)	0
Hypertrophic Cardiomyopathy 14	7	2	1.5	Cardiovascular (88%)	1
Hypertrophic Cardiomyopathy 2	7	2	1.5	Cardiovascular (88%)	1
KCNB1-Related Developmental and Epileptic Encephalopathy	8	2	1.5	Nervous System (88%)	0
NEUROD2-Related Developmental and Epileptic Encephalopathy	8	2	1.5	Nervous System (88%)	0
PRKN-Related Juvenile Parkinson Disease	8	2	1.5	Nervous System (88%)	0
Pentanucleotide Repeat Familial Adult Myoclonus Epilepsy	8	2	1.5	Nervous System (88%)	0
Self-Limited Epilepsy with Centrotemporal Spikes	8	2	1.5	Nervous System (88%)	0
Achromatopsia	8	2	1.4	Eye (89%)	1
CRX-Related Retinopathy	8	2	1.4	Eye (89%)	1
Congenital Primary Megaureter	8	2	1.4	Genitourinary (89%)	1
Cytomegalovirus Retinitis	8	2	1.4	Eye (89%)	1
Dilated Cardiomyopathy 1BB	8	2	1.4	Cardiovascular (89%)	1
Dilated Cardiomyopathy 1Z	8	2	1.4	Cardiovascular (89%)	1
Febrile Infection-Related Epilepsy Syndrome	9	2	1.4	Nervous System (89%)	0
Hypoplastic Left Heart Syndrome	9	2	1.4	Cardiovascular (89%)	0
Inherited Retinal Dystrophy	8	2	1.4	Eye (89%)	1
Multiple Mitochondrial Dysfunctions Syndrome 6	9	2	1.4	Nervous System (89%)	0
Self-Limited Epilepsy with Autonomic Seizures	9	2	1.4	Nervous System (89%)	0
Spaceflight Associated Neuro-Ocular Syndrome	9	2	1.4	Eye (89%)	0
Autosomal Dominant Optic Atrophy	9	2	1.4	Eye (90%)	1
Blue Cone Monochromacy	9	2	1.4	Eye (90%)	1
CACNA1A-Related Disorder	10	2	1.4	Nervous System (90%)	0
Dilated Cardiomyopathy 1AA	9	2	1.4	Cardiovascular (90%)	1
EYS-Related Retinitis Pigmentosa	9	2	1.4	Eye (90%)	1
GUCA1A-Related Retinopathy	9	2	1.4	Eye (90%)	1
RP1-Related Retinopathy	9	2	1.4	Eye (90%)	1
STXBP1 Encephalopathy	10	2	1.4	Nervous System (90%)	0
ATF6-Related Retinopathy	10	2	1.4	Eye (91%)	1
GUCY2D-Related Retinopathy	10	2	1.4	Eye (91%)	1
Epilepsy	29	3	1.3	Nervous System (93%)	0
Anti-NMDA Receptor Encephalitis	12	2	1.3	Nervous System (92%)	0
Autism Spectrum Disorder	12	2	1.3	Nervous System (92%)	0
Autosomal Dominant Epilepsy with Auditory Features	11	2	1.3	Nervous System (92%)	1
Bilateral Striopallidodentate Calcinosis	12	2	1.3	Nervous System (92%)	0
Limbic Encephalitis	12	2	1.3	Nervous System (92%)	0
Neuropsychiatric Systemic Lupus Erythematosus	11	2	1.3	Nervous System (92%)	1
RPGR-Related Retinopathy	11	2	1.3	Eye (92%)	1
Sick Sinus Syndrome 2, Autosomal Dominant	12	2	1.3	Cardiovascular (92%)	1
GABRB3-Related Developmental and Epileptic Encephalopathy	14	2	1.3	Nervous System (93%)	0
Pick Disease	14	2	1.3	Nervous System (93%)	0
CACNA1F-Related Retinopathy	14	2	1.3	Eye (93%)	1
Guanidinoacetate Methyltransferase Deficiency	16	2	1.3	Nervous System (94%)	0
Stargardt Disease	15	2	1.3	Eye (94%)	1
AIPL1-Related Retinopathy	8	1	1.0	Eye (100%)	0
Achoo Syndrome	1	1	1.0	Constitutional (100%)	0
Acoustic Neuroma	3	1	1.0	Ear (100%)	0
Acute Annular Outer Retinopathy	6	1	1.0	Eye (100%)	0
Acute Macular Neuroretinopathy	3	1	1.0	Eye (100%)	0
Acute Post-Surgical Pain	3	1	1.0	Constitutional (100%)	0
Adult Neuronal Ceroid Lipofuscinosis	11	1	1.0	Nervous System (100%)	0
Adult-Onset Foveomacular Vitelliform Dystrophy	5	1	1.0	Eye (100%)	0
Age-Related Macular Degeneration	7	1	1.0	Eye (100%)	0
Akinetopsia	2	1	1.0	Nervous System (100%)	0
Aland Islands Eye Disease	12	1	1.0	Eye (100%)	0
Alopecia Areata	5	1	1.0	Integument (100%)	0
Alzheimer Disease	7	1	1.0	Nervous System (100%)	0
Aminoglycoside-Induced Hearing Loss	2	1	1.0	Ear (100%)	0
Antisocial Personality Disorder	4	1	1.0	Nervous System (100%)	0
Aortic Valve Disease 2	7	1	1.0	Cardiovascular (100%)	0
Attention Deficit-Hyperactivity Disorder	3	1	1.0	Nervous System (100%)	0
Autism, Susceptibility to, X-Linked 3	3	1	1.0	Nervous System (100%)	0
Autoimmune Retinopathy	6	1	1.0	Eye (100%)	0
Autosomal Dominant Nonsyndromic Hearing Loss 11	3	1	1.0	Ear (100%)	0
Autosomal Dominant Nonsyndromic Hearing Loss 12	6	1	1.0	Ear (100%)	0
Autosomal Dominant Nonsyndromic Hearing Loss 25	3	1	1.0	Ear (100%)	0
Autosomal Dominant Nonsyndromic Hearing Loss 2A	3	1	1.0	Ear (100%)	0
Autosomal Dominant Nonsyndromic Hearing Loss 2B	2	1	1.0	Ear (100%)	0
Autosomal Dominant Nonsyndromic Hearing Loss 37	4	1	1.0	Ear (100%)	0
Autosomal Dominant Nonsyndromic Hearing Loss 3A	5	1	1.0	Ear (100%)	0
Autosomal Dominant Nonsyndromic Hearing Loss 47	2	1	1.0	Ear (100%)	0
Autosomal Dominant Nonsyndromic Hearing Loss 50	3	1	1.0	Ear (100%)	0
Autosomal Dominant Nonsyndromic Hearing Loss 53	2	1	1.0	Ear (100%)	0
Autosomal Dominant Nonsyndromic Hearing Loss 68	6	1	1.0	Ear (100%)	0
Autosomal Dominant Nonsyndromic Hearing Loss 7	6	1	1.0	Ear (100%)	0
Autosomal Recessive Nonsyndromic Hearing Loss 103	5	1	1.0	Ear (100%)	0
Autosomal Recessive Nonsyndromic Hearing Loss 104	4	1	1.0	Ear (100%)	0
Autosomal Recessive Nonsyndromic Hearing Loss 115	3	1	1.0	Ear (100%)	0
Autosomal Recessive Nonsyndromic Hearing Loss 123	1	1	1.0	Ear (100%)	0
Autosomal Recessive Nonsyndromic Hearing Loss 124	5	1	1.0	Ear (100%)	0
Autosomal Recessive Nonsyndromic Hearing Loss 15	5	1	1.0	Ear (100%)	0
Autosomal Recessive Nonsyndromic Hearing Loss 22	7	1	1.0	Ear (100%)	0
Autosomal Recessive Nonsyndromic Hearing Loss 26	2	1	1.0	Ear (100%)	0
Autosomal Recessive Nonsyndromic Hearing Loss 28	2	1	1.0	Ear (100%)	0
Autosomal Recessive Nonsyndromic Hearing Loss 30	6	1	1.0	Ear (100%)	0
Autosomal Recessive Nonsyndromic Hearing Loss 31	2	1	1.0	Ear (100%)	0
Autosomal Recessive Nonsyndromic Hearing Loss 48	5	1	1.0	Ear (100%)	0
Autosomal Recessive Nonsyndromic Hearing Loss 79	3	1	1.0	Ear (100%)	0
Autosomal Recessive Nonsyndromic Hearing Loss 88	3	1	1.0	Ear (100%)	0
BBSome-related retinitis pigmentosa	9	1	1.0	Eye (100%)	0
BEST1 Bestrophinopathies	23	1	1.0	Eye (100%)	0
BEST1-Related Dominant Retinopathy	6	1	1.0	Eye (100%)	0
Benign Familial Infantile Epilepsy	4	1	1.0	Nervous System (100%)	0
Benign Prostatic Hyperplasia	6	1	1.0	Genitourinary (100%)	0
Bietti Crystalline Dystrophy	4	1	1.0	Eye (100%)	0
Bipolar Disorder	6	1	1.0	Nervous System (100%)	0
Bleeding disorder, platelet-type, 21	5	1	1.0	Blood (100%)	0
Body Dysmorphic Disorder	5	1	1.0	Nervous System (100%)	0
Borderline Personality Disorder	8	1	1.0	Nervous System (100%)	0
Breast Fibroadenoma	1	1	1.0	Breast (100%)	0
Breast Implant-Associated Anaplastic Large Cell Lymphoma	1	1	1.0	Breast (100%)	0
Buruli ulcer	1	1	1.0	Integument (100%)	0
CERKL-Related Retinopathy	6	1	1.0	Eye (100%)	0
CHD2-Related Developmental and Epileptic Encephalopathy	10	1	1.0	Nervous System (100%)	0
COL11A2-Related Hearing Loss	1	1	1.0	Ear (100%)	0
COX11-Related COX Deficiency	1	1	1.0	Nervous System (100%)	0
COX8A-Related COX Deficiency	2	1	1.0	Nervous System (100%)	0
CYCS-Related Thrombocytopenia	1	1	1.0	Blood (100%)	0
Cardiomyopathy Dilated 100	1	1	1.0	Cardiovascular (100%)	0
Central Areolar Choroidal Dystrophy	6	1	1.0	Eye (100%)	0
Central Serous Chorioretinopathy	10	1	1.0	Eye (100%)	0
Chondrosarcoma	1	1	1.0	Neoplasm (100%)	0
Choroideremia	4	1	1.0	Eye (100%)	0
Chromoblastomycosis	2	1	1.0	Integument (100%)	0
Chronic Insomnia Disorder	3	1	1.0	Nervous System (100%)	0
Chronic Traumatic Encephalopathy	4	1	1.0	Nervous System (100%)	0
Congenital Bilateral Absence of Vas Deferens	5	1	1.0	Genitourinary (100%)	0
Congenital Stationary Night Blindness	7	1	1.0	Eye (100%)	0
Cough Variant Asthma	3	1	1.0	Respiratory (100%)	0
Dementia with Lewy Bodies	4	1	1.0	Nervous System (100%)	0
Dentatorubral-Pallidoluysian Atrophy	6	1	1.0	Nervous System (100%)	0
Developmental and Epileptic Encephalopathy 19	12	1	1.0	Nervous System (100%)	0
Developmental and Epileptic Encephalopathy with Spike-Wave Activation in Sleep	9	1	1.0	Nervous System (100%)	0
Diffuse Astrocytoma	4	1	1.0	Nervous System (100%)	0
Dilated Cardiomyopathy 1B	4	1	1.0	Cardiovascular (100%)	0
Dilated Cardiomyopathy 1D	2	1	1.0	Cardiovascular (100%)	0
Dilated Cardiomyopathy 1DD	3	1	1.0	Cardiovascular (100%)	0
Dilated Cardiomyopathy 1E	4	1	1.0	Cardiovascular (100%)	0
Dilated Cardiomyopathy 1EE	3	1	1.0	Cardiovascular (100%)	0
Dilated Cardiomyopathy 1G	3	1	1.0	Cardiovascular (100%)	0
Dilated Cardiomyopathy 1HH	2	1	1.0	Cardiovascular (100%)	0
Dilated Cardiomyopathy 1JJ	4	1	1.0	Cardiovascular (100%)	0
Dilated Cardiomyopathy 1NN	3	1	1.0	Cardiovascular (100%)	0
Dilated Cardiomyopathy 1O	5	1	1.0	Cardiovascular (100%)	0
Dilated Cardiomyopathy 1S	2	1	1.0	Cardiovascular (100%)	0
Dilated Cardiomyopathy 1U	2	1	1.0	Cardiovascular (100%)	0
Dilated Cardiomyopathy 1V	2	1	1.0	Cardiovascular (100%)	0
Dilated Cardiomyopathy 1Y	4	1	1.0	Cardiovascular (100%)	0
Dilated Cardiomyopathy 2E	2	1	1.0	Cardiovascular (100%)	0
Dilated Cardiomyopathy 2G	2	1	1.0	Cardiovascular (100%)	0
Dilated Cardiomyopathy 2J	4	1	1.0	Cardiovascular (100%)	0
Dissociative Identity Disorder	5	1	1.0	Nervous System (100%)	0
Dysembryoplastic Neuroepithelial Tumor	1	1	1.0	Nervous System (100%)	0
Dyslexia	4	1	1.0	Nervous System (100%)	0
Enhanced S-Cone Syndrome	7	1	1.0	Eye (100%)	0
Epilepsy with Generalized Tonic-Clonic Seizures Alone	6	1	1.0	Nervous System (100%)	0
Epilepsy with Myoclonic Absences	6	1	1.0	Nervous System (100%)	0
Epilepsy with Myoclonic-Atonic Seizures	7	1	1.0	Nervous System (100%)	0
FASTKD5-Related COX Deficiency	3	1	1.0	Nervous System (100%)	0
FOXE3-Related Anterior Segment Dysgenesis	7	1	1.0	Eye (100%)	0
Familial Congenital Mirror Movements	3	1	1.0	Nervous System (100%)	0
Familial Focal Epilepsy With Variable Foci	4	1	1.0	Nervous System (100%)	0
Familial Thoracic Aortic Aneurysm and Aortic Dissection	2	1	1.0	Cardiovascular (100%)	0
Fibrosarcoma	1	1	1.0	Neoplasm (100%)	0
Focal Cortical Dysplasia Type II	5	1	1.0	Nervous System (100%)	0
Fragile X-Associated Tremor Ataxia Syndrome	10	1	1.0	Nervous System (100%)	0
Frontotemporal Dementia	4	1	1.0	Nervous System (100%)	0
GABRG2-Related Epilepsy	7	1	1.0	Nervous System (100%)	0
GJB2-GJB6 Digenic Nonsyndromic Hearing Loss	1	1	1.0	Ear (100%)	0
GM1 Gangliosidosis Type 3	4	1	1.0	Nervous System (100%)	0
Gambling Disorder	2	1	1.0	Nervous System (100%)	0
Gastric Ulcer	1	1	1.0	Digestive (100%)	0
Generalized Epilepsy with Febrile Seizures Plus	7	1	1.0	Nervous System (100%)	0
Glioblastoma, IDH-Wildtype	5	1	1.0	Nervous System (100%)	0
HCN1-Related Developmental and Epileptic Encephalopathy	7	1	1.0	Nervous System (100%)	0
HFM1-related gametogenic failure	3	1	1.0	Genitourinary (100%)	0
Hailey-Hailey Disease	4	1	1.0	Integument (100%)	0
Hashimoto Encephalopathy	9	1	1.0	Nervous System (100%)	0
Hearing Loss Autosomal Dominant 72	3	1	1.0	Ear (100%)	0
Hearing Loss Autosomal Dominant 76	3	1	1.0	Ear (100%)	0
Hearing Loss Autosomal Dominant 78	2	1	1.0	Ear (100%)	0
Hearing Loss Autosomal Dominant 82	3	1	1.0	Ear (100%)	0
Hearing Loss Autosomal Dominant 84	4	1	1.0	Ear (100%)	0
Hearing Loss Autosomal Recessive 100	2	1	1.0	Ear (100%)	0
Hearing Loss Autosomal Recessive 106	4	1	1.0	Ear (100%)	0
Hearing Loss Autosomal Recessive 116	5	1	1.0	Ear (100%)	0
Hearing Loss Autosomal Recessive 120	3	1	1.0	Ear (100%)	0
Hepatoblastoma	2	1	1.0	Digestive (100%)	0
Human African trypanosomiasis	1	1	1.0	Nervous System (100%)	0
Huntington disease-like 2	4	1	1.0	Nervous System (100%)	0
Hypertrophic Cardiomyopathy 15	4	1	1.0	Cardiovascular (100%)	0
Hypertrophic Cardiomyopathy 17	5	1	1.0	Cardiovascular (100%)	0
Hypertrophic Cardiomyopathy 25	7	1	1.0	Cardiovascular (100%)	0
IDH-Mutant Astrocytoma	4	1	1.0	Nervous System (100%)	0
IDH-Mutant and 1p/19q-Codeleted Oligodendroglioma	3	1	1.0	Nervous System (100%)	0
IRF1 Deficiency	4	1	1.0	Immune (100%)	0
Idiopathic Hypersomnia	4	1	1.0	Nervous System (100%)	0
Idiopathic Triglyceride Deposit Cardiomyovasculopathy	3	1	1.0	Cardiovascular (100%)	0
Immunodeficiency 127	2	1	1.0	Immune (100%)	0
Intellectual Disability, Autosomal Dominant 11	1	1	1.0	Nervous System (100%)	0
Intermittent Explosive Disorder	4	1	1.0	Nervous System (100%)	0
Isolated Woolly Hair	6	1	1.0	Integument (100%)	0
Juvenile Absence Epilepsy	7	1	1.0	Nervous System (100%)	0
Juvenile Myoclonic Epilepsy	5	1	1.0	Nervous System (100%)	0
Juvenile Open Angle Glaucoma	5	1	1.0	Eye (100%)	0
KCNV2-Related Retinopathy	4	1	1.0	Eye (100%)	0
Kleine-Levin Syndrome	6	1	1.0	Nervous System (100%)	0
LCA5-Related Retinopathy	5	1	1.0	Eye (100%)	0
Landau-Kleffner Syndrome	7	1	1.0	Nervous System (100%)	0
Leber Congenital Amaurosis 13	6	1	1.0	Eye (100%)	0
Leiomyosarcoma	2	1	1.0	Neoplasm (100%)	0
Lennox-Gastaut Syndrome	10	1	1.0	Nervous System (100%)	0
Lichen Simplex Chronicus	1	1	1.0	Integument (100%)	0
Lysosomal Acid Phosphatase Deficiency	1	1	1.0	Nervous System (100%)	0
MAN2C1-congenital disorder of deglycosylation 2	3	1	1.0	Nervous System (100%)	0
MERTK-Related Retinopathy	7	1	1.0	Eye (100%)	0
Malnutrition-Related Diabetes Mellitus	1	1	1.0	Metabolism (100%)	0
Marchiafava-Bignami Disease	9	1	1.0	Nervous System (100%)	0
Meningioma	2	1	1.0	Nervous System (100%)	0
Mesial Temporal Lobe Epilepsy with Hippocampal Sclerosis	2	1	1.0	Nervous System (100%)	0
Monilethrix	3	1	1.0	Integument (100%)	0
Myoclonic Epilepsy in Infancy	4	1	1.0	Nervous System (100%)	0
Narcolepsy	5	1	1.0	Nervous System (100%)	0
Narcolepsy-Cataplexy Syndrome	5	1	1.0	Nervous System (100%)	0
Noise Induced Hearing Loss	3	1	1.0	Ear (100%)	0
Non-24-Hour Sleep-Wake Rhythm Disorder	3	1	1.0	Nervous System (100%)	0
Non-Syndromic X-Linked Intellectual Disability	6	1	1.0	Nervous System (100%)	0
North Carolina Macular Dystrophy	7	1	1.0	Eye (100%)	0
Northern Epilepsy	5	1	1.0	Nervous System (100%)	0
OPTN-related Open Angle Glaucoma	4	1	1.0	Eye (100%)	0
Obsessive-Compulsive Disorder	5	1	1.0	Nervous System (100%)	0
Oligoastrocytoma	4	1	1.0	Nervous System (100%)	0
Oppositional Defiant Disorder	7	1	1.0	Nervous System (100%)	0
Otosclerosis	5	1	1.0	Ear (100%)	0
PCDH19 Clustering Epilepsy	10	1	1.0	Nervous System (100%)	0
PDE6A-Related Retinopathy	4	1	1.0	Eye (100%)	0
PET117-Related COX Deficiency	2	1	1.0	Nervous System (100%)	0
PRPF31-Related Retinopathy	5	1	1.0	Eye (100%)	0
PRPH2-Related Retinopathy	3	1	1.0	Eye (100%)	0
Papular xanthoma	2	1	1.0	Integument (100%)	0
Paroxysmal Dyskinesia	11	1	1.0	Nervous System (100%)	0
Pars Planitis	7	1	1.0	Eye (100%)	0
Photosensitive Epilepsy	5	1	1.0	Nervous System (100%)	0
Piebaldism	3	1	1.0	Integument (100%)	0
Pigment Dispersion Syndrome	6	1	1.0	Eye (100%)	0
Pineoblastoma	3	1	1.0	Nervous System (100%)	0
Placenta Accreta Spectrum	1	1	1.0	Blood (100%)	0
Platelet-Type von Willebrand Disease	5	1	1.0	Blood (100%)	0
Platelet-type Bleeding Disorder 19	4	1	1.0	Blood (100%)	0
Platelet-type bleeding disorder 18	2	1	1.0	Blood (100%)	0
Platelet-type bleeding disorder 8	3	1	1.0	Blood (100%)	0
Pleuropulmonary Blastoma	5	1	1.0	Respiratory (100%)	0
Post-Traumatic Stress Disorder	4	1	1.0	Nervous System (100%)	0
Primary Progressive Aphasia	2	1	1.0	Nervous System (100%)	0
Progressive Myoclonic Epilepsy Type 7	8	1	1.0	Nervous System (100%)	0
Progressive Myoclonic Epilepsy Type 8	4	1	1.0	Nervous System (100%)	0
Proliferative Vitreoretinopathy	4	1	1.0	Eye (100%)	0
Prurigo Nodularis	2	1	1.0	Integument (100%)	0
Pyridoxine-Dependent Epilepsy	8	1	1.0	Nervous System (100%)	0
RDH5-Related Retinopathy	7	1	1.0	Eye (100%)	0
REM Sleep Behavior Disorder	3	1	1.0	Nervous System (100%)	0
RHO-Related Retinopathy	8	1	1.0	Eye (100%)	0
RLBP1-Related Retinopathy	7	1	1.0	Eye (100%)	0
RP2-Related Retinopathy	6	1	1.0	Eye (100%)	0
Rasmussen Encephalitis	5	1	1.0	Nervous System (100%)	0
Reelin Pathway Lissencephaly	7	1	1.0	Nervous System (100%)	0
Restless Legs Syndrome	3	1	1.0	Nervous System (100%)	0
Retinopathy of Prematurity	5	1	1.0	Eye (100%)	0
Ring Chromosome 20 Syndrome	9	1	1.0	Nervous System (100%)	0
SCN2A-Related Developmental and Epileptic Encephalopathy	10	1	1.0	Nervous System (100%)	0
SCN8A-Related Developmental and Epileptic Encephalopathy	7	1	1.0	Nervous System (100%)	0
SETD1A-Related Early-Onset Epilepsy	8	1	1.0	Nervous System (100%)	0
SLC26A1-Related Oxalate Transporter Deficiency	2	1	1.0	Genitourinary (100%)	0
SLC45A1-Related Neuronal Glucose Transporter Deficiency	4	1	1.0	Nervous System (100%)	0
SRPX2-related Speech-Epilepsy-Polymicrogyria	6	1	1.0	Nervous System (100%)	0
STAG3-related gametogenic failure	4	1	1.0	Genitourinary (100%)	0
STX1B-Related Epilepsy	2	1	1.0	Nervous System (100%)	0
SYCE1-related gametogenic failure	5	1	1.0	Genitourinary (100%)	0
SYCP2-related spermatogenic failure	5	1	1.0	Genitourinary (100%)	0
SYCP3-related spermatogenic failure	3	1	1.0	Genitourinary (100%)	0
SYN1-Related Neurodevelopmental Disorder	2	1	1.0	Nervous System (100%)	0
Schizophrenia	3	1	1.0	Nervous System (100%)	0
Scott Syndrome	2	1	1.0	Blood (100%)	0
Seborrheic Dermatitis	4	1	1.0	Integument (100%)	0
Secondary Hypertension	1	1	1.0	Cardiovascular (100%)	0
Semantic Dementia	4	1	1.0	Nervous System (100%)	0
Spermatogenic Failure 18	6	1	1.0	Genitourinary (100%)	0
Spermatogenic failure 43	5	1	1.0	Genitourinary (100%)	0
Spermatogenic failure 98	5	1	1.0	Genitourinary (100%)	0
Spinocerebellar ataxia type 17	10	1	1.0	Nervous System (100%)	0
Stickler Syndrome Type 1 Nonsyndromic Ocular	8	1	1.0	Eye (100%)	0
Subacute Delirium	8	1	1.0	Nervous System (100%)	0
TBX6-Associated Congenital Scoliosis	2	1	1.0	Musculoskeletal (100%)	0
TEX11-related spermatogenic failure	2	1	1.0	Genitourinary (100%)	0
TGFBI Corneal Dystrophies	6	1	1.0	Eye (100%)	0
TMLHE Deficiency	3	1	1.0	Nervous System (100%)	0
Taurodontism	5	1	1.0	Head and Neck (100%)	0
Temporal Lobe Epilepsy	2	1	1.0	Nervous System (100%)	0
Thyroid dyshormonogenesis 5	4	1	1.0	Endocrine (100%)	0
Tourette Syndrome	9	1	1.0	Nervous System (100%)	0
Trachoma	1	1	1.0	Eye (100%)	0
Triglyceride Storage Disease Type 2	1	1	1.0	Growth (100%)	0
UNC13A-Related NDD with Seizures and Movement Disorder	6	1	1.0	Nervous System (100%)	0
Uner Tan Syndrome	2	1	1.0	Nervous System (100%)	0
Unverricht-Lundborg Disease	9	1	1.0	Nervous System (100%)	0
Volumetric Muscle Loss	4	1	1.0	Musculoskeletal (100%)	0
X-linked Nonsyndromic Hearing Loss	3	1	1.0	Ear (100%)	0
X-linked Retinoschisis	5	1	1.0	Eye (100%)	0
YWHAG Syndrome	13	1	1.0	Nervous System (100%)	0
Foodborne trematodiases	0	0	0.0	—	0

Phenotype Systems

Diseases

Systems

Median systems per disease

Median effective systems

Unique combinations

Multi-system phenotypes