omimdefinitions

| Gastric cancer, somatic, 137215 (3)
| Leukemia, acute myelogenous (3)
| Noonan syndrome 3, 609942 (3)
| Cardiofaciocutaneous syndrome 2, 615278 (3)
| Breast cancer, somatic, 114480 (3)
| SFM syndrome, somatic mosaic, 163200 (3)
| [Short sleeper], 612975 (3)
| Humoral hypercalcemia of malignancy (1)
| Brachydactyly, type E2, 613382 (3)
| * 113520 BRANCHED-CHAIN AMINOTRANSFERASE 1| BCAT1
| Mental retardation, autosomal dominant 6, 613970 (3)
| Diarrhea 6, 614616 (3)
| Meconium ileus, 614665 (3)
| * 604843 SOLUTE CARRIER ORGANIC ANION TRANSPORTER FAMILY, MEMBER 1B1| SLCO1B1
| Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission, 614388 (3)
| Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 (3)
| * 600935 POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 8| KCNJ8
| Alzheimer disease-5, 104300 (2)
| Charcot-Marie-Tooth disease, type 4H, 609311 (3)
| Ichthyosis, congenital, autosomal recessive 7, 615022 (3)
| {Stature QTL 3} (2)
| * 603313 ALG10, S. CEREVISIAE, HOMOLOG OF| ALG10
| Spastic paraplegia 26, autosomal recessive (2)
| Ectodermal dysplasia 7, hair/nail type (2)
| Warsaw breakage syndrome, 613398 (3)
| Arrhythmogenic right ventricular dysplasia 9, 609040 (3)
| Vesicoureteral reflux 7 (2)
| * 603834 NADH-UBIQUINONE OXIDOREDUCTASE 1 ALPHA SUBCOMPLEX, 9| NDUFA9
| Pallister-Killian syndrome (4)
| Cavitary optic disc anomalies (2)
| Pyloric stenosis, infantile hypertrophic 1 (2)
| Diamond-Blackfan anemia 10, 613309 (3)
| ?Myopathy, congenital, Compton-North, 612540 (3)
| Ichthyosis bullosa of Siemens, 146800 (3)
| Palmoplantar keratoderma, Bothnia type (2)
| Telangiectasia, hereditary hemorrhagic, type 2, 600376 (3)
| Scott syndrome, 262890 (3)
| IRAK4 deficiency, 607676 (3)
| * 606883 INTERLEUKIN 1 RECEPTOR-ASSOCIATED KINASE 4| IRAK4
| Fibrosis of extraocular muscles, congenital, 1, 135700 (3)
| * 608283 KINESIN FAMILY MEMBER 21A| KIF21A
| Parkinson disease 8, 607060 (3)
| Epilepsy, progressive myoclonic 1B, 612437 (3)
| Hypertriglyceridemia, transient infantile, 614480 (3)
| * 170710 PERIPHERIN| PRPH
| Osteogenesis imperfecta, type XV, 615220 (3)
| {Osteoporosis, early-onset, susceptibility to, autosomal dominant}, 615221 (3)
| Charcot-Marie-Tooth disease, axonal, type 2G (2)
| Lissencephaly 3, 611603 (3)
| Rickets, vitamin D-resistant, type IIA, 277440 (3)
| * 601769 VITAMIN D RECEPTOR| VDR
| {Restless legs syndrome 1} (2)
| Achalasia-addisonianism-alacrimia syndrome, 231550 (3)
| * 601300 ACTIVIN A RECEPTOR, TYPE IB| ACVR1B
| Persistent Mullerian duct syndrome, type II, 261550 (3)
| Diabetes insipidus, nephrogenic, 125800 (3)
| * 600442 AQUAPORIN 5| AQP5
| {Basal cell carcinoma, susceptibility to, 4} (2)
| Lethal congenital contractural syndrome 2, 607598 (3)
| Ectodermal dysplasia 9, hair/nail type, 614931 (3)
| Muscular dystrophy, congenital, due to ITGA7 deficiency, 613204 (3)
| Spastic paraplegia 10, autosomal dominant, 604187 (3)
| Epidermolytic hyperkeratosis, 113800 (3)
| Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602 (3)
| Ichthyosis histrix, Curth-Macklin type, 146590 (3)
| Palmoplantar keratoderma, nonepidermolytic, 600962 (3)
| Palmoplantar keratoderma, epidermolytic, 144200 (3)
| Keratosis palmoplantaris striata III, 607654 (3)
| Meesmann corneal dystrophy, 122100 (3)
| White sponge nevus 1, 193900 (3)
| Epidermolysis bullosa simplex, Dowling-Meara type, 131760 (3)
| Epidermolysis bullosa simplex, Koebner type, 131900 (3)
| Epidermolysis bullosa simplex, Weber-Cockayne type, 131800 (3)
| Epidermolysis bullosa simplex-MP, 131960 (3)
| Dowling-Degos disease 1, 179850 (3)
| Epidermylysis bullosa simplex-MCR, 609352 (3)
| Epidermolysis bullosa simplex, recessive 1, 601001 (3)
| Pachyonychia congenita 3, 615726 (3)
| Pachyonychia congenita 4, 615728 (3)
| Cirrhosis, cryptogenic, 215600 (3)
| * 148060 KERATIN 8| KRT8
| * 148070 KERATIN 18| KRT18
| {Cirrhosis, noncryptogenic, susceptibility to}, 215600 (3)
| ?Hypotrichosis 13, 615896 (3)
| Woolly hair, autosomal dominant, 194300 (3)
| Hypotrichosis 3, 613981 (3)
| {Pseudofolliculitis barbae, susceptibility to}, 612318 (3)
| Monilethrix, 158000 (3)
| * 602765 KERATIN 83| KRT83
| Ectodermal dysplasia 4, hair/nail type, 602032 (3)
| * 601928 KERATIN 86| KRT86
| Cataract 15, multiple types, 615274 (3)
| Anemia, hypochromic microcytic, 206100 (3)
| Cognitive impairment with or without cerebellar ataxia, 614306 (3)
| Epileptic encephalopathy, early infantile, 13, 614558 (3)
| Split-hand/foot malformation 6, 225300 (3)
| * 601617 RETINOL DEHYDROGENASE 5| RDH5
| Combined oxidative phosphorylation deficiency 3, 610505 (3)
| Deafness, autosomal dominant 48, 607841 (3)
| Enuresis, nocturnal, 2 (2)

« Til de 100 forrige Til de 100 næste » 1 ... 38 39 40 41 42 43 44 ... 205

Handlinger tilknyttet webside

Send this