| 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 |
