Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

Preferred Name	CRIGLER-NAJJAR SYNDROME, TYPE I
Synonyms	HYPERBILIRUBINEMIA, CRIGLER-NAJJAR TYPE I
ID	http://purl.bioontology.org/ontology/OMIM/218800
altLabel	HYPERBILIRUBINEMIA, CRIGLER-NAJJAR TYPE I CRIGLER-NAJJAR SYNDROME HBLRCN1
cui	C0010324
Gene Locus	2q37
Gene Symbol	UGT1A1 GNT1 BILIQTL1 UGT1
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU037351 http://purl.bioontology.org/ontology/OMIM/MTHU013641 http://purl.bioontology.org/ontology/OMIM/MTHU013646 http://purl.bioontology.org/ontology/OMIM/MTHU031878 http://purl.bioontology.org/ontology/OMIM/MTHU031876 http://purl.bioontology.org/ontology/OMIM/MTHU013643 http://purl.bioontology.org/ontology/OMIM/MTHU011942 http://purl.bioontology.org/ontology/OMIM/MTHU037352 http://purl.bioontology.org/ontology/OMIM/MTHU013642 http://purl.bioontology.org/ontology/OMIM/MTHU013647 http://purl.bioontology.org/ontology/OMIM/MTHU031877
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	218800
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	CRIGLER-NAJJAR SYNDROME, TYPE I
tui	T047

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/ICD10/E80.5	International Classification of Diseases, Version 10	CUI
http://purl.bioontology.org/ontology/MESH/D003414	Medical Subject Headings	CUI
http://purl.bioontology.org/ontology/ICD10CM/E80.5	International Classification of Diseases, Version 10 - Clinical Modification	CUI
http://purl.bmicc.cn/ontology/ICD10CN/E80.5	International Classification of Diseases, 10th Edition, China	CUI