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 |