Description |
OMIM Number |
5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR |
607093 |
ANGELMAN SYNDROME; AS |
105830 |
ARTERIAL CALCIFICATION GENERALIZED OF INFANCY |
208000 |
AUTISTIC DISORDER |
209850 |
BREAST CANCER, TYPE 1; BRCA1 |
113705 |
CALCINOSIS, TUMORAL, WITH HYPERPHOSPHATEMIA |
211900 |
CEREBELLAR HYPOPLASIA |
213000 |
CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1; PFIC1 |
211600 |
COAGULATION FACTOR II; F2 |
176930 |
CRI-DU-CHAT SYNDROME |
123450 |
CRIGLER-NAJJAR SYNDROME |
218800 |
CYSTIC FIBROSIS; CF |
219700 |
DEAFNESS AUTOSOMAL RECESSIVE 39; DFNB39 |
608265 |
DEAFNESS AUTOSOMAL RECESSIVE 49; DFNB49 |
610153 |
DEAFNESS, AUTOSOMAL RECESSIVE 28; DFNB28 |
609823 |
DELETED IN AZOOSPERMIA; DAZ |
400003 |
DIGEORGE SYNDROME; DGS |
188400 |
ENDOGLIN; ENG |
131195 |
FACTOR V DEFICIENCY |
227400 |
FACTOR X DEFICIENCY |
227600 |
HERMANSKY-PUDLAK SYNDROME 2; HPS2 |
608233 |
HERMANSKY-PUDLAK SYNDROME; HPS |
203300 |
HYDATIDIFORM MOLE |
231090 |
IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 2 |
605258 |
IMMUNOOSSEOUS DYSPLASIA |
242900 |
ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY |
611283 |
LETTERER-SIWE DISEASE |
246400 |
MECKEL SYNDROME; MKS |
249000 |
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME; MVA |
257300 |
NEPHROSIS 1, CONGENITAL, FINNISH TYPE; NPHS1 |
256300 |
NEUROFIBROMATOSIS, TYPE II; NF2 |
101000 |
NEURONAL INTRANUCLEAR INCLUSION DISEASE |
603472 |
NODAL RHYTHM |
163800 |
OBESITY |
601665 |
PARKINSON DISEASE 1 |
168600 |
PEARSON MARROW-PANCREAS SYNDROME |
557000 |
POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1; PKHD1 |
263200 |
SMITH-MAGENIS SYNDROME; SMS |
182290 |
TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER; HHT |
187300 |
TETRALOGY OF FALLOT |
187500 |
THROMBOCYTOPENIA |
188000 |
TRICHOTHIODYSTROPHY; TTD ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH RETARDATION, INCLUDED |
601675 |
VITILIGO |
193200 |