Comparative

Disease groups

2,194 disease groups, by OMIA group number.

OMIA group Name Species The chain reached Best score
1984 Retinal atrophy, progressive, TTC8-related 1 Human gene 34.0
1985 Dwarfism, GON4L-related 1 Animal disease only
1986 Severe combined immunodeficiency disease, autosomal, T cell-negative, B cell-negative, NK cell-positive, with sensitivity to ionizing radiation 1 Target evidence 57.5
1987 Tail, short and kinked (Japanese bobtail) 1 Target evidence 50.7
1988 Copper toxicosis, COMMD1-related 1 Animal disease only
1989 Onychomadesis, symmetrical 1 Human disease 9.0
1990 Cancer, TP53-related 5 Drug 84.9
1991 Stillbirth 1 Human gene 26.5
1993 Ichthyosis, generic 4 Human disease 15.0
1994 Rex coat, plaice type 1 Animal disease only
1996 Achondroplasia-1 1 Animal disease only
1997 Achondroplasia-2 1 Animal disease only
1998 Dwarfism, Dahlem 1 Animal disease only
2002 Furless 1 Animal disease only
2003 Pelt-loss 1 Animal disease only
2004 Chondrodystrophy with femoral luxation 1 Animal disease only
2007 Agenesis, renal 4 Human disease 15.0
2011 B-cell deficiency 1 Human disease 7.5
2012 Glioma, predisposition to 3 Human disease 9.0
2013 Skeletal atavism 1 Human disease 9.0
2014 Enteritis, necrotic, susceptibility/resistance to 1 Animal disease only
2015 Dental hypomineralization 1 Target evidence 58.3
2016 Van den Ende-Gupta syndrome 1 Target evidence 61.1
2017 Glaucoma 3, primary congenital 1 Human disease 14.0
2018 Stiff skin syndrome 1 Human disease 9.0
2020 Ligneous membranitis 1 Drug 69.5
2022 Arthrogryposis multiplex congenita, CHRNB1-related 1 Human gene 34.0
2023 Cystinuria, type B 1 Target evidence 83.5
2025 Erratic 1 Animal disease only
2026 Wobbly 1 Animal disease only
2028 Myeloperoxidase deficiency 1 Drug 63.4
2029 Retinitis pigmentosa 1 1 Target evidence 59.7
2030 Cataract and non-ketotic hyperglycinaemia 1 Human disease 9.0
2031 Lundehund syndrome 1 Animal disease only
2032 Neuropathy, sensory, RETREG1-related 1 Human gene 34.0
2034 Cerebellar cortical degeneration, SNX14-related 1 Target evidence 57.0
2035 Abortion (embryonic lethality), OBFC1-related 1 Human gene 29.0
2036 Abortion (embryonic lethality), TTF1-related 1 Animal disease only
2037 Abortion (embryonic lethality), RABGGTB-related 1 Animal disease only
2038 Abortion (embryonic lethality), RNF20-related 1 Animal disease only
2039 Abortion (embryonic lethality), MYH6-related 1 Animal disease only
2040 Abortion (embryonic lethality), SNAPC4-related 1 Animal disease only
2041 Abortion (embryonic lethality), RPIA-related 1 Target evidence 55.4
2042 Abortion (embryonic lethality), EXOSC4-related 1 Animal disease only
2043 Abortion (embryonic lethality), MED22-related 1 Animal disease only
2044 Ataxia telangiectasia, ATM-related 2 Human disease 35.0
2045 Bardet-Biedl syndrome 4 1 Human gene 34.0
2046 Glaucoma, primary open angle 1 Animal disease only
2047 XX sex reversal, SRY-related 3 Human disease 20.0
2048 Hypocalcaemia, predisposition to 1 Human disease 29.0