omimdefinitions

| ?Polydactyly, postaxial, type A6, 615226 (3)
| Myasthenia, limb-girdle, familial, 254300 (3)
| Fetal akinesia deformation sequence, 208150 (3)
| {Congestive heart failure and beta-blocker response, modifier of} (3)
| Oculoauricular syndrome, 612109 (3)
| Tooth agenesis, selective, 1, with or without orofacial cleft, 106600 (3)
| Orofacial cleft 5, 608874 (3)
| Ectodermal dysplasia 3, Witkop type, 189500 (3)
| Spondylo-megaepiphyseal-metaphyseal dysplasia, 613330 (3)
| Wolfram syndrome, 222300 (3)
| Deafness, autosomal dominant 6/14/38, 600965 (3)
| Wolfram-like syndrome, autosomal dominant, 614296 (3)
| * 606201 WFS1 GENE| WFS1
| ?Cataract 41, 116400 (3)
| {Blepharospasm, primary benign}, 606798 (3)
| Dystonia, primary cervical (3)
| {Attention deficit-hyperactivity disorder, susceptibility to}, 143465 (3)
| Craniosynostosis, Adelaide type (2)
| Ellis-van Creveld syndrome, 225500 (3)
| Weyers acrodental dysostosis, 193530 (3)
| * 607261 EVC2 GENE| EVC2
| Primary lateral sclerosis, adult, 1 (2)
| {Uric acid concentration, serum, QTL 2}, 612076 (3)
| * 606142 SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER
| {Systemic lupus erythematosus, susceptibility to, 3} (2)
| Microtia with nasolacrimal duct imperforation and eye coloboma (1)
| Spastic paraplegia 38, autosomal dominant (2)
| {Intelligence QTL1} (2)
| Cone-rod dystrophy 18, 615374 (3)
| Hyperphenylalaninemia, BH4-deficient, C, 261630 (3)
| Pulmonary alveolar microlithiasis, 265100 (3)
| ?Testicular microlithiasis, 610441 (3)
| Joubert syndrome 9, 612285 (3)
| Meckel syndrome 6, 612284 (3)
| COACH syndrome, 216360 (3)
| Huntington disease-like 3 (2)
| Retinitis pigmentosa 41, 612095 (3)
| Cone-rod dystrophy 12, 612657 (3)
| Stargardt disease 4, 603786 (3)
| Macular dystrophy, retinal, 2, 608051 (3)
| {Stature QTL 13} (2)
| * 185490 SUPEROXIDE DISMUTASE 3| SOD3
| Adams-Oliver syndrome 3, 614814 (3)
| Pontocerebellar hypoplasia type 2D, 613811 (3)
| {Nasopharyngeal carcinoma 1} (2)
| Epilepsy, partial, with pericentral spikes (2)
| {Obesity, susceptibility to, BMIQ7} (2)
| {Alzheimer disease, late-onset}, 104300 (3)
| Pyruvate dehydrogenase lipoic acid synthetase deficiency, 614462 (3)
| {Leprosy, protection against}, 613223 (3)
| * 601194 TOLL-LIKE RECEPTOR 1| TLR1
| ?{Parkinson disease 5, susceptibility to}, 613643 (3)
| ?Neurodegeneration with optic atrophy, childhood onset, 615491 (3)
| Nephronophthisis 13, 614377 (3)
| Cranioectodermal dysplasia 4, 614378 (3)
| Short-rib thoracic dysplasia 5 with or without polydactyly, 614376 (3)
| Deafness, autosomal recessive 25, 613285 (3)
| {Alcohol dependence, susceptibility to}, 103780 (3)
| Narcolepsy 2 (2)
| Preeclampsia/eclampsia 5, 614595 (3)
| Central hypoventilation syndrome, congenital, with or without Hirschsprung disease, 209880 (3)
| {Neuroblastoma, susceptibility to, 2}, 613013 (3)
| * 603851 PAIRED-LIKE HOMEOBOX 2B| PHOX2B
| Retinitis pigmentosa 49, 613756 (3)
| {Mental health wellness-1} (2)
| Stargardt disease 4 (2)
| {Mental health wellness-2} (2)
| {Psoriasis susceptibility 3} (2)
| {Macroglobulinemia, Waldenstrom, susceptibility to, 2} (2)
| * 604332 CYSTEINE-RICH HYDROPHOBIC DOMAIN PROTEIN 2| CHIC2
| [AFP deficiency, congenital] (1)
| [Hereditary persistence of alpha-fetoprotein] (3)
| Analbuminemia (3)
| [Dysalbuminemic hyperthyroxinemia] (3)
| [Dysalbuminemic hyperzincemia], 194470 (1)
| Microcephaly 8, primary, autosomal recessive, 614673 (3)
| {Graves disease, susceptibility to, 3} (3)
| Retinal arterial macroaneurysm with supravalvular pulmonic stenosis, 614224 (3)
| Myopia 9 (2)
| Muscular dystrophy, limb-girdle, type 2E, 604286 (3)
| * 191306 KINASE INSERT DOMAIN RECEPTOR| KDR
| {Hemangioma, capillary infantile, susceptibility to}, 602089 (3)
| Piebaldism, 172800 (3)
| * 164920 V-KIT HARDY-ZUCKERMAN 4 FELINE SARCOMA VIRAL ONCOGENE HOMOLOG| KIT
| Mast cell disease, 154800 (3)
| Leukemia, acute myeloid, 601626 (3)
| Germ cell tumors, 273300 (3)
| * 173490 PLATELET-DERIVED GROWTH FACTOR RECEPTOR, ALPHA| PDGFRA
| Hypereosinophilic syndrome, idiopathic, resistant to imatinib, 607685 (3)
| Congenital disorder of glycosylation, type Iq, 612379 (3)
| Kahrizi syndrome, 612713 (3)
| Bone marrow failure syndrome 1, 614675 (3)
| Total anomalous pulmonary venous return (2)
| Congenital disorder of glycosylation, type IIk, 614727 (3)
| Mental retardation, autosomal recessive 31 (2)
| Deafness, autosomal dominant 27 (2)
| Deafness, autosomal recessive 55 (2)
| {Bone mineral density QTL 12, osteoporosis}, 612560 (3)
| {Autoimmune disease, susceptibility to, 4} (2)
| * 158375 MUCIN 7, SALIVARY| MUC7

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