omimdefinitions

| {Autism susceptibility 1} (2)
| ?Split-hand/foot malformation 1 with sensorineural hearing loss, 220600 (3)
| {Inflammatory bowel disease 11} (2)
| Polydactyly, postaxial, type A4 (2)
| Lysyl hydroxylase 3 deficiency, 612394 (3)
| Lissencephaly 2 (Norman-Roberts type), 257320 (3)
| ?Premature ovarian failure 8, 615723 (3)
| Hemochromatosis, type 3, 604250 (3)
| Diarrhea 1, secretory chloride, congenital, 214700 (3)
| Spinocerebellar ataxia 18 (2)
| ?Neutrophil chemotactic repsonse, abnormal (2)
| MEDNIK syndrome, 609313 (3)
| Spastic paraplegia 50, autosomal recessive, 612936 (3)
| Ehlers-Danlos syndrome, type VIIB, 130060 (3)
| Osteogenesis imperfecta, type IV, 166220 (3)
| Osteogenesis imperfecta, type III, 259420 (3)
| Osteogenesis imperfecta, type II, 166210 (3)
| * 120160 COLLAGEN, TYPE I, ALPHA-2| COL1A2
| Ehlers-Danlos syndrome, cardiac valvular form, 225320 (3)
| * 605325 CYTOCHROME P450, SUBFAMILY IIIA, POLYPEPTIDE 5| CYP3A5
| Deafness, autosomal recessive 61, 613865 (3)
| Mean platelet volume QTL6 (2)
| Cardiomyopathy, dilated, 1Q (2)
| {Autism, susceptibility to, 9} (2)
| Congenital disorder of glycosylation, type IIi, 613612 (3)
| Deafness, autosomal recessive 14 (2)
| Deafness, autosomal recessive 17 (2)
| * 164860 MET PROTOONCOGENE| MET
| Hepatocellular carcinoma, childhood type, 114550 (3)
| Pendred syndrome, 274600 (3)
| * 605646 SOLUTE CARRIER FAMILY 26, MEMBER 4| SLC26A4
| Speech-language disorder-1, 602081 (3)
| {Alcohol dependence}, 103780 (3)
| Dihydrolipoamide dehydrogenase deficiency, 246900 (3)
| * 601500 SMOOTHENED, DROSOPHILA, HOMOLOG OF| SMOH
| Erythrocytosis due to bisphosphoglycerate mutase deficiency, 222800 (3)
| ?Lipodystrophy, congenital generalized, type 3, 612526 (3)
| Pulmonary hypertension, primary, 3, 615343 (3)
| ?Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome, 606721 (3)
| Exudative vitreoretinopathy 5, 613310 (3)
| Lissencephaly 5, 615191 (3)
| * 602421 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR| CFTR
| Congenital bilateral absence of vas deferens, 277180 (3)
| Sweat chloride elevation without CF (3)
| {Pancreatitis, idiopathic}, 167800 (3)
| {Hypertrypsinemia, neonatal} (3)
| {Bronchiectasis with or without elevated sweat chloride 1, modifier of}, 211400 (3)
| Hyperlysinemia, 238700 (3)
| Saccharopinuria, 268700 (1)
| Obesity, morbid, due to leptin deficiency, 614962 (3)
| * 176891 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, ZETA-1| PTPRZ1
| {Stature QTL 2} (2)
| Retinitis pigmentosa 10, 180105 (3)
| Leber congenital amaurosis 11, 613837 (3)
| Colorblindness, tritan, 190900 (3)
| {Melanoma, cutaneous malignant, susceptibility to, 10}, 615848 (3)
| {Basal cell carcinoma, susceptibility to, 6} (2)
| Joubert syndrome 15, 614464 (3)
| Myopathy, myofibrillar, 5, 609524 (3)
| Myopathy, distal, 4, 614065 (3)
| {Inflammatory bowel disease 14}, 612245 (3)
| {Systemic lupus erythematosus, susceptibility to, 10}, 612251 (3)
| Maturity-onset diabetes of the young, type IX, 612225 (3)
| * 167413 PAIRED BOX GENE 4| PAX4
| Diabetes mellitus, ketosis-prone, 612227 (3)
| Biliary cirrhosis, primary, 4 (2)
| Photoparoxysmal response 3 (2)
| Bile acid synthesis defect, congenital, 2, 235555 (3)
| Spinocerebellar ataxia 32 (2)
| ?Coffin-Siris syndrome (2)
| * 603406 TRIPARTITE MOTIF-CONTAINING PROTEIN 24| TRIM24
| Alopecia, neurologic defects, and endocrinopathy syndrome, 612079 (3)
| Muscular dystrophy, limb-girdle, type 1F, 608423 (3)
| Deafness, autosomal dominant 50, 613074 (3)
| Hypospadias 3, autosomal (2)
| [Body mass index QTL1] (2)
| {Chordoma, susceptibility to} (4)
| [Blood group, Kell], 110900 (3)
| Renal tubular acidosis, distal, autosomal recessive, 602722 (3)
| Sengers syndrome, 212350 (3)
| Cataract 38, autosomal recessive, 614691 (3)
| * 164757 V-RAF MURINE SARCOMA VIRAL ONCOGENE HOMOLOG B1| BRAF
| Colorectal cancer, somatic (3)
| Adenocarcinoma of lung, somatic, 211980 (3)
| Nonsmall cell lung cancer, somatic (3)
| Cardiofaciocutaneous syndrome, 115150 (3)
| Noonan syndrome 7, 613706 (3)
| LEOPARD syndrome 3, 613707 (3)
| Ghosal hematodiaphyseal syndrome, 231095 (3)
| ?Thromboxane synthase deficiency, 614158 (1)
| [Phenylthiocarbamide tasting], 171200 (3)
| Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458 (3)
| Neuronopathy, distal hereditary motor, type I (2)
| Deafness, autosomal recessive 13 (2)
| Otosclerosis 2 (2)
| Myotonia congenita, recessive, 255700 (3)
| Myotonia congenita, dominant, 160800 (3)
| * 118425 CHLORIDE CHANNEL 1, SKELETAL MUSCLE| CLCN1
| Weaver syndrome, 277590 (3)
| Premature ovarian failure 5, 611548 (3)

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