omimdefinitions

| Usher syndrome, type 1F, 602083 (3)
| Deafness, autosomal recessive 23, 609533 (3)
| * 605514 PROTOCADHERIN 15| PCDH15
| Myopia 15 (2)
| Cardiomyopathy, dilated, 1KK, 615248 (3)
| * 608517 MYOPALLADIN| MYPN
| Cardiomyopaty, familial restrictive 4, 615248 (3)
| * 129010 EARLY GROWTH RESPONSE 2| EGR2
| Charcot-Marie-Tooth disease, type 1D, 607678 (3)
| Dejerine-Sottas disease, 145900 (3)
| {Renal dysplasia, cystic, susceptibility to}, 601331 (3)
| {Nephrolithiasis, uric acid, susceptibility to}, 605990 (3)
| Diarrhea 4, malabsorptive, congenital, 610370 (3)
| * 609875 ATONAL, DROSOPHILA, HOMOLOG OF, 7| ATOH7
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6, 615156 (3)
| ?Seckel syndrome 8, 615807 (3)
| Facial paresis, hereditary congenital, 2 (2)
| Epilepsy, hot water, 1 (2)
| Hemolytic anemia due to hexokinase deficiency, 235700 (3)
| Neuropathy, hereditary motor and sensory, Russe type, 605285 (3)
| SBBYSS syndrome, 603736 (3)
| Genitopatellar syndrome, 606170 (3)
| Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency, 250850 (3)
| * 610550 METHIONINE ADENOSYLTRANSFERASE I, ALPHA| MAT1A
| Mental retardation, autosomal recessive, 8 (2)
| Hyperphenylalaninemia, BH4-deficient, D, 264070 (3)
| Hemophagocytic lymphohistiocytosis, familial, 2, 603553 (3)
| * 170280 PERFORIN 1| PRF1
| {Smoking as a quantitative trait locus 1} (2)
| {Migraine, with or without aura, susceptibility to, 12} (2)
| Pulmonary fibrosis, idiopathic, 178500 (3)
| Diamond-blackfan anemia 3, 610629 (3)
| Aortic aneurysm, familial thoracic 6, 611788 (3)
| Multisystemic smooth muscle dysfunction syndrome, 613834 (3)
| Moyamoya disease 5, 614042 (3)
| Brachyolmia 4 with mild epiphyseal and metaphyseal changes, 612847 (3)
| Atrial fibrillation, familial, 1 (2)
| * 614215 ACTIVATING SIGNAL COINTEGRATOR 1 COMPLEX, SUBUNIT 1| ASCC1
| Spondyloepiphyseal dysplasia with congenital joint dislocations, 143095 (3)
| Goldberg-Shprintzen megacolon syndrome, 609460 (3)
| Myopathy with extrapyramidal signs, 615673 (3)
| Combined oxidative phosphorylation deficiency 2, 610498 (3)
| Heterotaxy, visceral, 5, 270100 (3)
| Metachromatic leukodystrophy due to SAP-b deficiency, 249900 (3)
| Gaucher disease, atypical, 610539 (3)
| Combined SAP deficiency, 611721 (3)
| Krabbe disease, atypical, 611722 (3)
| Histiocytosis-lymphadenopathy plus syndrome, 602782 (3)
| Preeclampsia/eclampsia 4, 609404 (3)
| Cardiomyopathy, dilated, 1W, 611407 (3)
| Cardiomyopathy, familial hypertrophic, 15, 613255 (3)
| Spastic paraplegia 27, autosomal recessive (2)
| * 178630 SURFACTANT, PULMONARY-ASSOCIATED PROTEIN A1| SFTPA1
| Myopathy, myofibrillar, 4, 609452 (3)
| Cardiomyopathy, dilated 1C, 601493 (3)
| * 605906 LIM DOMAIN-BINDING 3| LDB3
| Polyposis, juvenile intestinal, 174900 (3)
| Polyposis syndrome, hereditary mixed, 2, 610069 (3)
| * 601299 BONE MORPHOGENETIC PROTEIN RECEPTOR, TYPE IA| BMPR1A
| Albinism, oculocutaneous, type VII, 615179 (3)
| Generalized epilepsy and paroxysmal dyskinesia, 609446 (3)
| Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694 (3)
| {Schizophrenia}, 181500 (2)
| {Systemic lupus erythematosus with nephritis, susceptibility to, 1} (2)
| {Sarcoidosis, susceptibility to, 3} (2)
| Chromosome 10q23 deletion syndrome (4)
| Cowden syndrome 4, 615107 (3)
| * 605391 MULTIPLE INOSITOL POLYPHOSPHATE PHOSPHATASE 1| MINPP1
| Nephrotic syndrome, type 3, 610725 (3)
| Retinitis pigmentosa 44, 613769 (3)
| [C-reactive protein QTL] (2)
| Urofacial syndrome 1, 236730 (3)
| {Inflammatory bowel disease 20} (2)
| Cone-rod dystrophy 15, 613660 (3)
| * 609502 CADHERIN-RELATED FAMILY, MEMBER 1| CDHR1
| Hermansky-Pudlak syndrome 1, 203300 (3)
| Agammaglobulinemia 4, 613502 (3)
| Neuropathy, motor and sensory, Russe type (2)
| Rhabdomyolysis, cerivastatin-induced (3)
| Focal facial dermal dysplasia 4, 614974 (3)
| Hyperinsulinism-hyperammonemia syndrome, 606762 (3)
| Cardiomyopathy, familial restrictive, 2 (2)
| Cataract, juvenile, with microcornea and glucosuria, 612018 (3)
| * 609044 G PROTEIN-COUPLED RECEPTOR 120| GPR120
| Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation, 152950 (3)
| Spastic paraplegia 9, autosomal dominant (2)
| {Diabetes mellitus, insulin-dependent, 24} (2)
| Wolman disease, 278000 (3)
| * 613497 LIPASE A, LYSOSOMAL ACID| LIPA
| Ichthyosis, congenital, autosomal recessive 8, 613943 (3)
| Cowden syndrome 1, 158350 (3)
| Lhermitte-Duclos syndrome, 158350 (3)
| Bannayan-Riley-Ruvalcaba syndrome, 153480 (3)
| {Meningioma}, 607174 (3)
| {Glioma susceptibility 2}, 613028 (3)
| Macrocephaly/autism syndrome, 605309 (3)
| PTEN hamartoma tumor syndrome (3)
| VATER association with macrocephaly and ventriculomegaly, 276950 (3)
| {Prostate cancer, somatic}, 176807 (3)
| Thyroid carcinoma, follicular, somatic, 188470 (3)

« Til de 100 forrige Til de 100 næste » 1 ... 31 32 33 34 35 36 37 ... 205

Handlinger tilknyttet webside

Send this