Uncertain Biochemical Etiology Disorders

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