mondo_id label omimps descendants mendelian susceptibility somatic infectious acquired unmapped_locus unspecified predisposers series_kind heterogeneity_axes dismech_entry_on_class dismech_grouping inherited_superclasses dismech_covered dismech_member_entries existing_grouping_overlap mondo_recipient_candidate recommendation member_entry_names MONDO:0021094 immunodeficiency disease OMIMPS:300755 322 182 14 0 1 0 42 83 0 MIXED_GENETIC_ACQUIRED MENDELIAN+RISK_LOCUS+ACQUIRED hereditary disease 28 16 Combined Immunodeficiencies IEIs (3); Combined Immunodeficiency with Syndromic Features IEIs (2) MONDO:0031520 familial severe combined immunodeficiency; MONDO:0016463 syndromic agammaglobulinemia GROUPING_CANDIDATE 22q11.2 Deletion Syndrome; Activated PI3K-delta syndrome; Ataxia-telangiectasia; Autosomal Dominant Hyper-IgE Syndrome; Cernunnos-XLF deficiency; Chronic Mucocutaneous Candidiasis; IKBKG ectodermal dysplasia with immunodeficiency; Inherited Ichthyosis; LRBA Deficiency; MHC class II deficiency; Netherton syndrome; STAT6 Gain-of-Function Disease; STK4 Deficiency; Wiskott-Aldrich syndrome; X-linked A MONDO:0004983 spermatogenic failure OMIMPS:258150 113 106 1 0 0 0 6 0 0 MENDELIAN_SERIES MENDELIAN+RISK_LOCUS hereditary disease 1 0 NO_DISMECH_BASIS MONDO:0015469 craniosynostosis OMIMPS:123100 106 34 0 0 0 0 25 47 2 MENDELIAN_SERIES MENDELIAN+RISK_LOCUS hereditary disease 12 6 FGFR-Related Skeletal Dysplasias (4); Heritable Thoracic Aortic Disease (1) MONDO:0015338 syndromic craniosynostosis COVERED_BY_GROUPING Apert Syndrome; Arboleda-Tham Syndrome; Crouzon Syndrome; Crouzon Syndrome with Acanthosis Nigricans; Muenke Syndrome; Shprintzen-Goldberg Syndrome MONDO:0005129 cataract OMIMPS:116200 80 35 0 0 0 5 15 25 0 MIXED_GENETIC_ACQUIRED MENDELIAN+RISK_LOCUS+ACQUIRED hereditary disease 0 0 NO_DISMECH_BASIS MONDO:0018555 hypogonadotropic hypogonadism OMIMPS:147950 87 56 0 0 0 0 7 24 0 MENDELIAN_SERIES MENDELIAN+RISK_LOCUS Congenital and Syndromic Hypogonadotropic Hypogonadism hereditary disease 9 6 Congenital and Syndromic Hypogonadotropic Hypogonadism (6); Digenic and Oligogenic Disorders (1) MONDO:0015770 congenital hypogonadotropic hypogonadism GROUPING_EXISTS Bosma Arhinia Microphthalmia Syndrome; Boucher-Neuhauser Syndrome; Cerebellar Ataxia-Hypogonadism Syndrome; FGFR1-Related Hypogonadotropic Hypogonadism; Schaaf-Yang Syndrome; Woodhouse-Sakati Syndrome MONDO:0005265 inflammatory bowel disease OMIMPS:266600 71 12 0 0 2 1 22 34 0 LOCUS_SERIES MENDELIAN+RISK_LOCUS+ACQUIRED hereditary disease 3 0 SINGLE_DISEASE MONDO:0015168 arthrogryposis multiplex congenita OMIMPS:617468 40 26 0 0 0 0 5 9 0 MENDELIAN_SERIES MENDELIAN+RISK_LOCUS Arthrogryposis Multiplex Congenita hereditary disease 3 3 Motor Neuron Disorders (1) GROUPING_CANDIDATE Marden-Walker Syndrome; Wieacker-Wolff Syndrome; X-Linked Infantile Spinal Muscular Atrophy MONDO:0000358 orofacial cleft OMIMPS:119530 31 9 0 0 0 0 12 10 1 LOCUS_SERIES MENDELIAN+RISK_LOCUS hereditary disease 3 1 SINGLE_DISEASE Zlotogora-Ogur Syndrome MONDO:0001384 myopia OMIMPS:160700 30 10 0 0 0 0 19 1 0 LOCUS_SERIES MENDELIAN+RISK_LOCUS hereditary disease 0 0 SINGLE_DISEASE MONDO:0000448 paraganglioma 29 7 0 0 0 0 0 22 0 MENDELIAN_SERIES MENDELIAN hereditary disease; hereditary neurological disease 0 0 MONDO:0017366 hereditary pheochromocytoma-paraganglioma NO_DISMECH_BASIS MONDO:0005180 Parkinson disease OMIMPS:168600 27 14 0 0 0 0 9 4 3 MENDELIAN_SERIES MENDELIAN+RISK_LOCUS Parkinson's Disease hereditary disease; hereditary neurological disease 5 3 GROUPING_CANDIDATE Kufor-Rakeb syndrome; PARK7-Related Early-Onset Parkinson Disease; PRKN-Related Juvenile Parkinson Disease MONDO:0020836 autism, susceptiblity to OMIMPS:209850 26 0 26 0 0 0 0 0 0 SUSCEPTIBILITY_SERIES RISK_LOCUS inherited disease susceptibility 2 0 SINGLE_DISEASE MONDO:0005803 hyperinsulinemic hypoglycemia OMIMPS:256450 26 8 0 0 0 0 0 18 0 MENDELIAN_SERIES MENDELIAN hereditary disease; inborn errors of metabolism 1 0 MONDO:0017182 familial hyperinsulinism; MONDO:0019010 congenital isolated hyperinsulinism NO_DISMECH_BASIS MONDO:0016537 lymphoproliferative syndrome OMIMPS:308240 23 11 0 0 0 0 2 10 0 MENDELIAN_SERIES MENDELIAN+RISK_LOCUS hereditary disease 5 3 Immune Dysregulation IEIs (3) COVERED_BY_GROUPING CD27-related lymphoproliferative and immune disorder; CTLA4 Haploinsufficiency; FAS-related Autoimmune Lymphoproliferative Syndrome MONDO:0003037 hypotrichosis OMIMPS:605389 21 13 0 0 0 0 4 4 0 MENDELIAN_SERIES MENDELIAN+RISK_LOCUS hereditary disease 1 1 GROUPING_DEFERRED Hypotrichosis with Juvenile Macular Dystrophy MONDO:0018677 visceral heterotaxy OMIMPS:306955 20 14 0 0 0 0 3 3 0 MENDELIAN_SERIES MENDELIAN+RISK_LOCUS Visceral heterotaxy hereditary disease 0 0 NO_DISMECH_BASIS MONDO:0016296 holoprosencephaly OMIMPS:236100 20 11 0 0 0 0 5 4 0 MENDELIAN_SERIES MENDELIAN+RISK_LOCUS Hedgehog Pathway Holoprosencephaly hereditary disease; hereditary neurological disease 3 3 Hedgehog Pathway Holoprosencephaly (3) GROUPING_EXISTS Holoprosencephaly 12 With or Without Pancreatic Agenesis; Holoprosencephaly 9; SHH_Holoprosencephaly_Spectrum MONDO:0005150 age-related macular degeneration OMIMPS:603075 15 10 0 0 0 0 3 2 3 MENDELIAN_SERIES MENDELIAN+RISK_LOCUS Age-Related Macular Degeneration hereditary disease; hereditary neurological disease; inherited retinal dystrophy 0 0 NO_DISMECH_BASIS MONDO:0015279 chronic mucocutaneous candidiasis OMIMPS:114580 12 5 1 0 0 0 6 0 0 LOCUS_SERIES MENDELIAN+RISK_LOCUS Chronic Mucocutaneous Candidiasis hereditary disease; hereditary skin disorder 5 1 SINGLE_DISEASE Chronic Mucocutaneous Candidiasis MONDO:0007915 systemic lupus erythematosus OMIMPS:601744 12 8 0 0 0 0 0 4 19 SUSCEPTIBILITY_SERIES MENDELIAN+RISK_LOCUS Neuropsychiatric Systemic Lupus Erythematosus;Systemic Lupus Erythematosus hereditary disease; hereditary disorder of connective tissue 0 0 SINGLE_DISEASE MONDO:0019165 central precocious puberty OMIMPS:176400 11 2 0 0 0 3 0 6 0 MIXED_GENETIC_ACQUIRED MENDELIAN+ACQUIRED Central Precocious Puberty hereditary disease 0 0 NO_DISMECH_BASIS MONDO:0015486 keratoconus OMIMPS:148300 11 2 0 0 0 0 7 2 0 LOCUS_SERIES MENDELIAN+RISK_LOCUS hereditary disease 0 0 SINGLE_DISEASE MONDO:0005349 otosclerosis OMIMPS:166800 11 1 0 0 0 0 10 0 0 LOCUS_SERIES MENDELIAN+RISK_LOCUS hereditary disease; hereditary otorhinolaryngologic disease; inherited auditory system disease 0 0 SINGLE_DISEASE MONDO:0005115 temporal lobe epilepsy OMIMPS:600512 9 4 0 0 0 0 4 1 0 MENDELIAN_SERIES MENDELIAN+RISK_LOCUS Temporal Lobe Epilepsy familial partial epilepsy; hereditary disease; hereditary neurological disease 0 0 MONDO:0017704 familial partial epilepsy; MONDO:0100576 hereditary generalized epilepsy NO_DISMECH_BASIS MONDO:0019037 progressive supranuclear palsy OMIMPS:601104 8 2 0 0 0 0 2 4 0 MENDELIAN_SERIES MENDELIAN+RISK_LOCUS Progressive Supranuclear Palsy hereditary disease; hereditary neurological disease; inherited neurodegenerative disorder 0 0 NO_DISMECH_BASIS MONDO:0016820 Moyamoya disease OMIMPS:252350 8 4 0 0 0 0 4 0 0 MENDELIAN_SERIES MENDELIAN+RISK_LOCUS Moyamoya Disease hereditary disease; hereditary neurological disease 0 0 NO_DISMECH_BASIS MONDO:0005081 preeclampsia OMIMPS:189800 8 2 0 0 0 0 3 3 0 LOCUS_SERIES MENDELIAN+RISK_LOCUS Preeclampsia hereditary disease 0 0 SINGLE_DISEASE MONDO:0006248 hydatidiform mole OMIMPS:231090 7 4 0 0 0 0 0 3 0 MENDELIAN_SERIES MENDELIAN Hydatidiform Mole hereditary disease 0 0 NO_DISMECH_BASIS MONDO:0005083 psoriasis OMIMPS:177900 6 2 0 0 0 0 0 4 12 SUSCEPTIBILITY_SERIES MENDELIAN+RISK_LOCUS Psoriasis hereditary disease; hereditary skin disorder 1 1 SINGLE_DISEASE Psoriasis 14, Pustular MONDO:0005388 primary biliary cholangitis OMIMPS:109720 5 0 0 0 0 0 5 0 0 LOCUS_SERIES RISK_LOCUS Primary Biliary Cholangitis cirrhosis, familial; hereditary disease 0 0 SINGLE_DISEASE MONDO:0005382 bone Paget disease OMIMPS:167250 5 3 0 0 0 0 2 0 0 MENDELIAN_SERIES MENDELIAN+RISK_LOCUS hereditary disease 0 0 NO_DISMECH_BASIS MONDO:0004822 bronchiectasis OMIMPS:211400 4 2 0 0 0 0 1 1 0 MENDELIAN_SERIES MENDELIAN+RISK_LOCUS Bronchiectasis hereditary disease 0 0 NO_DISMECH_BASIS MONDO:0019415 fetal and neonatal alloimmune thrombocytopenia OMIMPS:621264 3 3 0 0 0 0 0 0 0 MENDELIAN_SERIES MENDELIAN hereditary disease 0 0 NO_DISMECH_BASIS MONDO:0016215 spastic quadriplegic cerebral palsy OMIMPS:612900 3 3 0 0 0 0 0 0 0 MENDELIAN_SERIES MENDELIAN hereditary disease; hereditary neurological disease 0 0 NO_DISMECH_BASIS MONDO:0009813 chronic recurrent multifocal osteomyelitis OMIMPS:609628 3 2 0 0 0 0 1 0 0 MENDELIAN_SERIES MENDELIAN+RISK_LOCUS hereditary disease; hereditary disorder of connective tissue 0 0 NO_DISMECH_BASIS MONDO:0000334 multinodular goiter OMIMPS:138800 3 0 0 0 0 0 3 0 0 LOCUS_SERIES RISK_LOCUS hereditary disease 0 0 SINGLE_DISEASE MONDO:0100280 Waldenstrom macroglobulinemia OMIMPS:153600 2 0 2 0 0 0 0 0 0 SUSCEPTIBILITY_SERIES RISK_LOCUS Waldenstrom Macroglobulinemia hereditary disease; inborn errors of metabolism 0 0 SINGLE_DISEASE MONDO:0007275 carpal tunnel syndrome OMIMPS:115430 2 2 0 0 0 0 0 0 0 MENDELIAN_SERIES MENDELIAN hereditary disease; hereditary neurological disease; hereditary neuromuscular disease; hereditary peripheral neuropathy 0 0 NO_DISMECH_BASIS MONDO:0005130 celiac disease OMIMPS:212750 1 0 0 0 0 0 0 1 13 SUSCEPTIBILITY_SERIES RISK_LOCUS Celiac Disease hereditary disease 1 0 SINGLE_DISEASE MONDO:0019201 thyrotoxic periodic paralysis OMIMPS:188580 0 0 0 0 0 0 0 0 3 SUSCEPTIBILITY_SERIES RISK_LOCUS familial periodic paralysis; hereditary disease; hereditary neurological disease; inborn errors of metabolism 0 0 SINGLE_DISEASE MONDO:0005445 visceral leishmaniasis OMIMPS:608207 0 0 0 0 0 0 0 0 3 SUSCEPTIBILITY_SERIES RISK_LOCUS Leishmaniasis hereditary disease 0 0 SINGLE_DISEASE MONDO:0005342 IgA glomerulonephritis 0 0 0 0 0 0 0 0 1 SPARSE RISK_LOCUS IgA Nephropathy hereditary disease; hereditary nephritis; inherited kidney disorder 0 0 NO_DISMECH_BASIS