omimdefinitions

| Macular dystrophy, North Carolina type (2)
| Calcification of joints and arteries, 211800 (3)
| Leber congenital amaurosis 5, 604537 (3)
| Split-hand/foot malformation with long bone deficiency 2 (2)
| {Obesity, susceptibility to, BMIQ18}, 615457 (3)
| Congenital disorder of glycosylation, type IIf, 603585 (3)
| * 611776 NADH DEHYDROGENASE (UBIQUINONE) COMPLEX I, ASSEMBLY FACTOR 4| NDUFAF4
| Pontocerebellar hypoplasia, type 6, 611523 (3)
| Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), 615471 (3)
| Lymphedema, hereditary, IB (2)
| * 603128 SINGLE-MINDED, DROSOPHILA, HOMOLOG OF, 1| SIM1
| Polymicrogyria, bilateral occipital (2)
| Epilespy, generalized, with febrile seizures plus, type 8 (2)
| Charcot-Marie-Tooth disease, type 4J, 611228 (3)
| Amyotrophic lateral sclerosis 11, 612577 (3)
| Yunis-Varon syndrome, 216340 (3)
| * 606845 GOLGI-ASSOCIATED PDZ AND COILED-COIL DOMAINS-CONTAINING PROTEIN| GOPC
| Mental retardation, autosomal recessive, 6, 611092 (3)
| ?Heterotaxy, visceral, 3, autosomal (2)
| {Diabetes mellitus, insulin-dependent, 15} (2)
| Cardiomyopathy, dilated, 1JJ, 615235 (3)
| [Longevity 2] (2)
| Microphthalmia, syndromic 8 (2)
| {Menarche, age at, QTL2} (2)
| Osteopetrosis, autosomal recessive 5, 259720 (3)
| Coenzyme Q10 deficiency, primary, 3, 614652 (3)
| Polycystic liver disease, 174050 (3)
| Mental retardation, anterior maxillary protrusion, and strabismus, 613671 (3)
| {Psoriasis susceptibility 13}, 614070 (3)
| ?Candidiasis, familial, 8, 615527 (3)
| Immunodeficiency-centromeric instability-facial anomalies syndrome-2, 614069 (3)
| Craniometaphyseal dysplasia, autosomal recessive (2)
| {Pulmonary function} (2)
| Metaphyseal chondrodysplasia, Schmid type, 156500 (3)
| ?Ehlers-Danlos syndrome, musculocontractural type 2, 615539 (3)
| * 189990 V-MYB AVIAN MYELOBLASTOSIS VIRAL ONCOGENE HOMOLOG| MYB
| * 173335 ECTONUCLEOTIDE PYROPHOSPHATASE/PHOSPHODIESTERASE 1| ENPP1
| {Obesity, susceptibility to}, 601665 (3)
| Arterial calcification, generalized, of infancy, 1, 208000 (3)
| Hypophosphatemic rickets, autosomal recessive, 2, 613312 (3)
| Cole disease, 615522 (3)
| IgA nephropathy, susceptibility to, 1 (2)
| Muscular dystrophy, congenital merosin-deficient, 607855 (3)
| * 156225 LAMININ, ALPHA-2| LAMA2
| {Hepatic fibrosis susceptibility due to Schistosoma mansoni infection} (2)
| Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, 615441 (3)
| Sudden infant death with dysgenesis of the testes syndrome, 608800 (3)
| Arthropathy, progressive pseudorheumatoid, of childhood, 208230 (3)
| * 603400 WNT1-INDUCIBLE SIGNALING PATHWAY PROTEIN 3| WISP3
| Febrile seizures, familial, 5 (2)
| [Fasting insulin level quantitative trait locus 1] (2)
| Cardiomyopathy, dilated, 1P, 609909 (3)
| Cardiomyopathy, familial hypertrophic, 18, 613874 (3)
| Ciliary dyskinesia, primary, 11, 612649 (3)
| Mitchell-Riley syndrome, 615710 (3)
| Oculodentodigital dysplasia, 164200 (3)
| Syndactyly, type III, 186100 (3)
| Hypoplastic left heart syndrome 1, 241550 (3)
| Atrioventricular septal defect 3, 600309 (3)
| Oculodentodigital dysplasia, autosomal recessive, 257850 (3)
| * 121014 GAP JUNCTION PROTEIN, ALPHA-1| GJA1
| Fetal hemoglobin quantitative trait locus 2 (2)
| Argininemia, 207800 (3)
| Cardiomyopathy, dilated, 1F and limb-girdle muscular dystrophy type 1D (2)
| Deafness, autosomal dominant 10, 601316 (3)
| Cardiomyopathy, dilated, 1J, 605362 (3)
| [Hematocrit/hemoglobin quantitative trait locus 1] (2)
| Retinitis pigmentosa 63 (2)
| {Rheumatoid arthritis, susceptibility to} (2)
| {Systemic lupus erythematosus, susceptibility to, 13} (2)
| * 107470 INTERFERON-GAMMA RECEPTOR 1| IFNGR1
| BCG infection, generalized familial, 209950 (3)
| {H. pylori infection, susceptibility to}, 600263 (3)
| {Tuberculosis, susceptibility to}, 607948 (3)
| {Mycobacterium tuberculosis infection, protection against}, 607948 (3)
| {Hepatitis B virus infection, susceptibility to}, 610424 (3)
| {Major affective disorder 6} (2)
| [High density lipoprotein cholesterol level QTL 8] (3)
| Spastic paraplegia 25, autosomal recessive (2)
| [Body mass index QTL3] (2)
| {Lung cancer susceptibility} (2)
| Mental retardation, autosomal recessive 18, 614249 (3)
| Joubert syndrome-3, 608629 (3)
| Ventricular septal defect 2, 614431 (3)
| Atrial septal defect 8, 614433 (3)
| Mean platelet volume QTL5 (2)
| Rhizomelic chondrodysplasia punctata, type 1, 215100 (3)
| Peroxisome biogenesis disorder 9B, 614879 (3)
| * 607566 EPM2A GENE| EPM2A
| Spinocerebellar ataxia, autosomal recessive 13, 614831 (3)
| * 603044 PLEOMORPHIC ADENOMA GENE-LIKE 1| PLAGL1
| Hemophagocytic lymphohistiocytosis, familial, 4, 603552 (3)
| Chromosome 6q25-q25 deletion syndrome (4)
| Thyroid dyshormonogenesis 4, 274800 (3)
| {Stature QTL 1} (2)
| Peroxisome biogenesis disorder 10A (Zellweger), 614882 (3)
| Dyschromatosis universalis hereditaria 1 (2)
| [Bone mineral density QTL 11] (2)
| {Diabetes mellitus, insulin-dependent, 21} (2)
| Combined oxidative phosphorylation deficiency 11, 614922 (3)

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