JSON

Crigler-Najjar Syndrome

Go to external page http://purl.bioontology.org/ontology/MESH/D003414

A familial form of congenital hyperbilirubinemia transmitted as an autosomal recessive trait. It is characterized by icterus and brain damage caused by a glucuronyl transferase deficiency in the liver and faulty bilirubin conjugation.

Instance info

Synonyms

Crigler-Najjar-Syndrom (DE), Crigler Najar Syndrome, Crigler-Najjar Syndrome, Type I, Crigler Najjar Syndrome, Type 1, Crigler Najjar Syndrome, Crigler-Najar Syndrome, Crigler Najjar Syndrome, Type I, Familial Nonhemolytic Unconjugated Hyperbilirubinemia, Hereditary Unconjugated Hyperbilirubinemia

AQL

BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI

DC

1

DX

19910101

HN

91(75); was see under HYPERBILIRUBINEMIA, HEREDITARY 1975-90

MDA

19990101

MMR

20130708

MN

C18.452.648.300.281,C16.320.565.300.281

OL

use HYPERBILIRUBINEMIA, HEREDITARY to search CRIGLER-NAJJAR SYNDROME 1966-74

PM

91; was see under HYPERBILIRUBINEMIA, HEREDITARY 1975-90

QB

http://purl.bioontology.org/ontology/MESH/Q000175,http://purl.bioontology.org/ontology/MESH/Q000097,http://purl.bioontology.org/ontology/MESH/Q000196,http://purl.bioontology.org/ontology/MESH/Q000150,http://purl.bioontology.org/ontology/MESH/Q000191,http://purl.bioontology.org/ontology/MESH/Q000139,http://purl.bioontology.org/ontology/MESH/Q000534,http://purl.bioontology.org/ontology/MESH/Q000235,http://purl.bioontology.org/ontology/MESH/Q000378,http://purl.bioontology.org/ontology/MESH/Q000532,http://purl.bioontology.org/ontology/MESH/Q000652,http://purl.bioontology.org/ontology/MESH/Q000453,http://purl.bioontology.org/ontology/MESH/Q000134,http://purl.bioontology.org/ontology/MESH/Q000178,http://purl.bioontology.org/ontology/MESH/Q000276,http://purl.bioontology.org/ontology/MESH/Q000451,http://purl.bioontology.org/ontology/MESH/Q000000981,http://purl.bioontology.org/ontology/MESH/Q000473,http://purl.bioontology.org/ontology/MESH/Q000517,http://purl.bioontology.org/ontology/MESH/Q000382,http://purl.bioontology.org/ontology/MESH/Q000601,http://purl.bioontology.org/ontology/MESH/Q000469,http://purl.bioontology.org/ontology/MESH/Q000821,http://purl.bioontology.org/ontology/MESH/Q000523,http://purl.bioontology.org/ontology/MESH/Q000401,http://purl.bioontology.org/ontology/MESH/Q000201,http://purl.bioontology.org/ontology/MESH/Q000662,http://purl.bioontology.org/ontology/MESH/Q000266,http://purl.bioontology.org/ontology/MESH/Q000145,http://purl.bioontology.org/ontology/MESH/Q000188,http://purl.bioontology.org/ontology/MESH/Q000628,http://purl.bioontology.org/ontology/MESH/Q000209,http://purl.bioontology.org/ontology/MESH/Q000208,http://purl.bioontology.org/ontology/MESH/Q000503

SIB

http://purl.bioontology.org/ontology/MESH/D007566,http://purl.bioontology.org/ontology/MESH/D005878

TERMUI

T009940,T811473,T841216,T009939,T841217,T841215,T839574

TH

GHR (2014),ORD (2010),OMIM (2013),UNK (19XX),NLM (2014),NLM (1975)

cui

C0010324

hasSTY

http://purl.bioontology.org/ontology/STY/T047

mapped from

http://purl.bioontology.org/ontology/MESH/C536213

tui

T047

Instance relations

Types