Other Known Biochemistry Disorders

Description  OMIM Number 
ADRENAL HYPOPLASIA, CONGENITAL; AHC 300200
ALAGILLE SYNDROME; AGS 118450
ALBRIGHT HEREDITARY OSTEODYSTROPHY; AHO PSEUDOHYPOPARATHYROIDISM, TYPE IA, INCLUDED; PHP; PHP1A, INCLUDED 103580
ALBUMIN; ALB DYSALBUMINEMIC HYPERTHYROXINEMIA, INCLUDED 103600
ANEMIA, FAMILIAL PYRIDOXINE-RESPONSIVE 206000
ANEMIA, HYPOCHROMIC 301300
ANGELMAN SYNDROME; AS 105830
ARTERIAL CALCIFICATION GENERALIZED OF INFANCY 208000
ASPHYXIATING THORACIC DYSTROPHY; ATD 208500
BANNAYAN-RILEY-RUVALCABA SYNDROME; BRRS 153480
BECKWITH-WIEDEMANN SYNDROME; BWS 130650
CARBONIC ANHYDRASE I; CA1 114800
CARBOXYPEPTIDASE N DEFICIENCY 212070
CATALASE; CAT ACATALASEMIA, INCLUDED 115500
CHEDIAK-HIGASHI SYNDROME; CHS1 LYSOSOMAL TRAFFICKING REGULATOR, INCLUDED; LYST, INCLUDED 214500
CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1; PFIC1 211600
CIRRHOSIS FAMILIAL 215600
COAGULATION FACTOR II; F2 176930
COFFIN-LOWRY SYNDROME; CLS 303600
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig 607143
COPROPORPHYRIA 121300
CRI-DU-CHAT SYNDROME 123450
CRIGLER-NAJJAR SYNDROME 218800
CYSTIC FIBROSIS; CF 219700
DELTA-AMINOLEVULINATE DEHYDRATASE; ALAD 125270
DIABETES MELLITUS INSULIN-DEPENDENT; IDDM 222100
DIGEORGE SYNDROME; DGS 188400
DUBOWITZ SYNDROME 223370
DYSKERATOSIS CONGENITA X-LINKED; DKC 305000
EOSINOPHILIC FASCIITIS 226350
EPIDERMODYSPLASIA VERRUCIFORMIS; EV 226400
EPILEPSY, CHILDHOOD ABSENCE, 1 600131
EPILEPSY, PARTIAL; EPT 600512
FACTOR VII DEFICIENCY 227500
FRAGILE SITE 10q25 136620
FRASER SYNDROME 219000
FRYNS SYNDROME; FRNS 229850
FUCOSYLTRANSFERASE 1; FUT1 211100
FUMARATE HYDRATASE; FH 136850
GIANT PLATELET SYNDROME 231200
GLOMUS TUMORS, MULTIPLE 138000
HERMANSKY-PUDLAK SYNDROME; HPS 203300
HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS 176670
HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME; HRD 241410
HYPOPLASTIC LEFT HEART SYNDROME 241550
MARSHALL SYNDROME 154780
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE I; MODY1 125850
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II; MODY2 125851
MECKEL SYNDROME; MKS 249000
MYASTHENIA GRAVIS; MG 254200
MYELOMA, MULTIPLE AMYLOIDOSIS, PRIMARY, INCLUDED; AL, INCLUDED 254500
NEUROFIBROMATOSIS, TYPE I; NF1 162200
NEUROFIBROMATOSIS, TYPE II; NF2 101000
PIEBALD TRAIT; PBT 172800
POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1; PKHD1 263200
POLYCYSTIC KIDNEYS 173900
PORPHYRIA CUTANEA TARDA 176100
PORPHYRIA VARIEGATA 176200
PORPHYRIA, ACUTE INTERMITTENT 176000
PORPHYRIA, CONGENITAL ERYTHROPOIETIC 263700
PRADER-WILLI SYNDROME; PWS 176270
PROTEASE INHIBITOR 1; PI 107400
PROTOPORPHYRIA, ERYTHROPOIETIC 177000
RENAL ADYSPLASIA 191830
RENAL HAMARTOMAS, NEPHROBLASTOMATOSIS, AND FETAL GIGANTISM 267000
RETICULOSIS, FAMILIAL HISTIOCYTIC 267700
RUBINSTEIN-TAYBI SYNDROME; RSTS 180849
SEX REVERSAL, AUTOSOMAL, 2; SRA2 154230
SMITH-LEMLI-OPITZ SYNDROME; SLOS 270400
SPHEROCYTOSIS, HEREDITARY; HS 182900
TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER; HHT 187300
TETRALOGY OF FALLOT 187500
TRICHOTHIODYSTROPHY NONPHOTOSENSITIVE 1; TTDN1 234050
TRISOMY 21 190685
TUBEROUS SCLEROSIS 1; TSC1 191100
URIC ACID CONCENTRATION SERUM QUANTITATIVE TRAIT LOCUS 1; UAQTL1 138900
VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF; CBAVD 277180
VELOCARDIOFACIAL SYNDROME 192430
WISKOTT-ALDRICH SYNDROME; WAS 301000
WOLF-HIRSCHHORN SYNDROME; WHS 194190
WOLFRAM SYNDROME 222300
ZELLWEGER SYNDROME; ZS 214100