omimdefinitions

| Cohen syndrome, 216550 (3)
| Retinitis pigmentosa 64, 614500 (3)
| * 614477 CHROMOSOME 8 OPEN READING FRAME 37| C8ORF37
| Leri pleonosteosis chromosome duplication syndrome (4)
| * 612392 NADH DEHYDROGENASE (UBIQUINONE) COMPLEX I, ASSEMBLY FACTOR 6| NDUFAF6
| Nablus mask-like facial syndrome (4)
| Klippel-Feil syndrome 1, autosomal dominant, 118100 (3)
| Microphthalmia, isolated 4, 613094 (3)
| Microphthalmia with coloboma 6, digenic, 613703 (3)
| Leber congenital amaurosis 17, 615360 (3)
| Pyruvate dehydrogenase phosphatase deficiency, 608782 (3)
| * 610635 COLLAGEN TRIPLE-HELIX REPEAT-CONTAINING PROTEIN 1| CTHRC1
| Klippel-Trenaunay-Weber syndrome (2)
| Miyoshi muscular dystrophy 2 (2)
| Nail disorder, nonsyndromic congenital, 10, (claw-shaped nails), 614157 (3)
| {Colorectal cancer, susceptibility to, 6} (2)
| Glaucoma 1D, primary open angle (2)
| [High density lipoprotein cholesterol level QTL 2] (2)
| [Lean body mass QTL 1] (2)
| Moyamoya disease 3 (2)
| Thyrotropin-releasing hormone resistance, generalized (3)
| * 603693 ZINC FINGER PROTEIN, MULTITYPE 2| ZFPM2
| Diaphragmatic hernia 3, 610187 (3)
| Hashimoto thyroiditis (2)
| Mungan syndrome (2)
| {Autoimmune thyroid disease, susceptibility to, 3}, 608175 (3)
| Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075 (3)
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 5, 613077 (3)
| * 604712 RIBONUCLEOTIDE REDUCTASE, M2 B| RRM2B
| [Bone size quantitative trait locus 3] (2)
| {Colorectal cancer, susceptibility to, 2} (2)
| Epilepsy, childhood absence, 1 (2)
| {Epilepsy, idiopathic generalized, susceptibility to, 1} (2)
| {Prostate cancer, hereditary, 10} (2)
| Seizures, benign neonatal, type 2, 121201 (3)
| Epilepsy, myoclonic, adult familial, 1 (2)
| Muscular dystrophy with epidermolysis bullosa simplex, 226670 (3)
| Epidermolysis bullosa simplex, Ogna type, 131950 (3)
| Epidermolysis bullosa simplex with pyloric atresia, 612138 (3)
| Muscular dystrophy, limb-girdle, type 2Q, 613723 (3)
| Cornelia de Lange syndrome 4, 614701 (3)
| Paget disease, juvenile, 239000 (3)
| * 603046 RING FINGER PROTEIN 139| RNF139
| ?Tibial hemimelia (2)
| Birk-Barel mental retardation dysmorphism syndrome, 612292 (3)
| * 611145 SOLUTE CARRIER FAMILY 30 (ZINC TRANSPORTER), MEMBER 8| SLC30A8
| Exostoses, multiple, type 1, 133700 (3)
| Chondrosarcoma, 215300 (3)
| Trichorhinophalangeal syndrome, type II (4)
| Mental retardation, autosomal recessive 40, 615599 (3)
| Trichorhinophalangeal syndrome, type I, 190350 (3)
| Trichorhinophalangeal syndrome, type III, 190351 (3)
| Burkitt lymphoma, 113970 (3)
| Spastic paraplegia 8, autosomal dominant, 603563 (3)
| Ritscher-Schinzel syndrome, 220210 (3)
| Keratoderma, palmoplantar, punctate type IB (2)
| {Age-related hearing impairment 1} (2)
| Thyroid dyshormonogenesis 3, 274700 (3)
| * 188450 THYROGLOBULIN| TG
| {Glioma susceptibility 7} (2)
| Ciliary dyskinesia, primary, 19, 614935 (3)
| Mitochondrial complex III deficiency, nuclear type 6, 615453 (3)
| ?Diarrhea 7, 615863 (3)
| Amelogenesis imperfecta, type III, 130900 (3)
| Brown-Vialetto-Van Laere syndrome 2, 614707 (3)
| Charcot-Marie-Tooth disease, type 4D, 601455 (3)
| Orofacial cleft 12 (2)
| 5-oxoprolinase deficiency, 260005 (3)
| Verheij syndrome, 615583 (3)
| Rothmund-Thomson syndrome, 268400 (3)
| RAPADILINO syndrome, 266280 (3)
| Baller-Gerold syndrome, 218600 (3)
| Acrodermatitis enteropathica, 201100 (3)
| Mental retardation, autosomal recessive 13, 613192 (3)
| Meleda disease, 248300 (3)
| {Autoimmune disease, susceptibility to, 3} (2)
| 46XY sex reversal 4 (4)
| Cerebral palsy, spastic quadriplegic, 2, 612900 (3)
| Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199 (3)
| Retinal cone dystrophy 3B, 610356 (3)
| Corneal dystrophy, Fuchs endothelial, 7 (2)
| Mental retardation, autosomal dominant 2, 614113 (3)
| Hyper-IgE recurrent infection syndrome, autosomal recessive, 243700 (3)
| {?Schizophrenia susceptibility 18}, 615232 (3)
| Polycythemia vera, 263300 (3)
| Thrombocythemia 3, 614521 (3)
| * 147796 JANUS KINASE 2| JAK2
| {Budd-Chiari syndrome}, 600880 (3)
| Leukemia, acute myelogenous, 601626 (3)
| Erythrocytosis, somatic, 133100 (3)
| Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050 (3)
| Hydrocephalus, nonsyndromic, autosomal recessive 2, 615219 (3)
| {Restless legs syndrome 3} (2)
| Nicolaides-Baraitser syndrome, 601358 (3)
| [Skin/hair/eye pigmentation 11, blue/nonblue eyes] (2)
| Albinism, oculocutaneous, type III, 203290 (3)
| * 115501 TYROSINASE-RELATED PROTEIN 1| TYRP1
| Mental retardation, autosomal recessive 16 (2)
| Friedreich ataxia 2 (2)
| Deafness, autosomal recessive 83 (2)

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