Comparative

Disease groups

423 disease groups whose chain reached target evidence, by OMIA group number.

OMIA group Name Species The chain reached Best score
595 Leukocyte adhesion deficiency, type I 5 Drug 84.0
625 Mannosidosis, alpha 7 Target evidence 95.0
626 Mannosidosis, beta 5 Target evidence 63.9
627 Maple syrup urine disease, BCKDHA-related 1 Target evidence 63.4
628 Marfan syndrome, FBN1-related 4 Target evidence 88.0
629 Megacolon 5 Drug 64.7
640 Menkes disease 2 Target evidence 88.9
649 Microphthalmia 11 Target evidence 35.3
664 Mucopolysaccharidosis I 4 Target evidence 84.7
665 Mucopolysaccharidosis IIID 1 Target evidence 62.3
666 Mucopolysaccharidosis VI 2 Target evidence 87.5
667 Mucopolysaccharidosis VII 2 Target evidence 92.8
679 Muscular dystrophy 7 Target evidence 58.0
683 Muscular hypertrophy (double muscling) 16 Drug 54.1
690 Myoclonus epilepsy of Lafora 5 Target evidence 61.8
698 Myotonia 8 Target evidence 81.1
702 Nanomelia 1 Target evidence 55.3
706 Necrotising myelopathy, IBA57-related 1 Target evidence 56.7
716 Neurofibromatosis, generic 3 Target evidence 90.9
725 Niemann-Pick disease, type C1 3 Target evidence 88.1
755 Osteopetrosis 7 Target evidence 37.0
770 Tremor, X-linked, PLP1-related 4 Target evidence 69.9
785 Hyperkalemic Periodic Paralysis, HYPP 1 Drug 78.5
809 Polycythemia 4 Drug 88.2
810 Polydactyly 19 Target evidence 62.2
819 Prekallikrein deficiency 2 Drug 64.9
827 Myeloencephalopathy, progressive degenerative, PNPLA8-related 2 Target evidence 57.6
831 Retinal atrophy, progressive, X-linked, type 1 1 Target evidence 53.9
837 Vitamin D-deficiency rickets, type IA 3 Target evidence 68.7
841 Pulmonary hypertension 8 Drug 63.9
844 Pyruvate kinase deficiency of erythrocyte 2 Drug 87.1
881 Retinal atrophy - Rod-cone dysplasia, CRX related 2 Target evidence 59.0
899 Severe combined immunodeficiency disease, X-linked 3 Drug 72.4
938 Spinal dysraphism 2 Target evidence 34.8
944 Spongiform encephalopathy, susceptibility/resistance to 58 Target evidence 48.7
963 Syndactyly 9 Target evidence 64.0
975 Tail, short 5 Target evidence 54.3
978 Orofaciodigital syndrome, C2CD3-related 1 Target evidence 57.1
979 Talpid-3 1 Target evidence 56.9
1000 Thrombasthenia 3 Drug 89.5
1009 Hemimelia, tibial 2 Target evidence 33.9
1033 Urolithiasis 30 Target evidence 62.4
1054 Vitamin-K-dependent blood coagulation factors deficiency 3 Drug 64.3
1056 Von Willebrand disease, generic 6 Drug 65.4
1057 Von Willebrand disease I 2 Drug 62.1
1058 Von Willebrand disease III 4 Drug 65.4
1071 Wilson disease 7 Target evidence 95.2
1081 Muscular dystrophy, Duchenne type 4 Drug 92.4
1097 Necrotising encephalopathy, subacute, of Leigh 3 Target evidence 64.0
1106 Axonopathy 1 Target evidence 58.7