loading...| Preferred Name |
CRIGLER-NAJJAR SYNDROME, TYPE I |
|
| Synonyms |
HBLRCN1 |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/218800 |
|
| altLabel |
HBLRCN1 CRIGLER-NAJJAR SYNDROME HYPERBILIRUBINEMIA, CRIGLER-NAJJAR TYPE I |
|
| cui |
C5551003 C0010324 |
|
| Gene Locus |
2q37 |
|
| Gene Symbol |
UGT1 UGT1A1 BILIQTL1 GNT1 |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU031876 http://purl.bioontology.org/ontology/OMIM/MTHU031877 http://purl.bioontology.org/ontology/OMIM/MTHU037351 http://purl.bioontology.org/ontology/OMIM/MTHU037352 http://purl.bioontology.org/ontology/OMIM/MTHU013643 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
218800 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
CRIGLER-NAJJAR SYNDROME, TYPE I |
|
| Scope Statement |
Death in infancy secondary to kernicterus [MISCELLANEOUS] Very rare [MISCELLANEOUS] No response to phenobarbital [MISCELLANEOUS] Caused by mutation in the uridine diphosphate glycosyltransferase 1 gene (UGT1, 191740.0001) [MOLECULAR BASIS] |
|
| tui |
T047 |