RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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.
Synonyms:
exact_synonym:
Bilirubin UDP glucuronyl transferase deficiency; Crigler Najar Syndrome; Crigler Najjar Syndrome, Type 1; Crigler Najjar Syndrome, Type I; Familial Nonhemolytic Unconjugated Hyperbilirubinemia; HBLRCN1; Hereditary Unconjugated Hyperbilirubinemia; hyperbilirubinemia, Crigler -Najjar type I
DNA:splice-site mutations ClinVar Annotator: match by term: Crigler-Najjar syndrome type 1 ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, CRIGLER-NAJJAR TYPE I ClinVar Annotator: match by term: Crigler Najjar syndrome, type 1 ClinVar Annotator: match by OMIM:218800 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, CRIGLER-NAJJAR TYPE I ClinVar Annotator: match by term: Crigler-Najjar syndrome type 1 ClinVar Annotator: match by term: Crigler Najjar syndrome, type 1
ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, CRIGLER-NAJJAR TYPE I ClinVar Annotator: match by term: Crigler-Najjar syndrome type 1 ClinVar Annotator: match by term: Crigler Najjar syndrome, type 1
ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, CRIGLER-NAJJAR TYPE I ClinVar Annotator: match by term: Crigler-Najjar syndrome type 1 ClinVar Annotator: match by term: Crigler Najjar syndrome, type 1
ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, CRIGLER-NAJJAR TYPE I ClinVar Annotator: match by term: Crigler-Najjar syndrome type 1 ClinVar Annotator: match by term: Crigler Najjar syndrome, type 1
ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, CRIGLER-NAJJAR TYPE I ClinVar Annotator: match by term: Crigler-Najjar syndrome type 1 ClinVar Annotator: match by term: Crigler Najjar syndrome, type 1
ClinVar Annotator: match by synonym: Crigler Najjar syndrome, type 1 ClinVar Annotator: match by term: Crigler-Najjar syndrome type 1 ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, CRIGLER-NAJJAR TYPE I ClinVar Annotator: match by term: Crigler Najjar syndrome, type 1
ClinVar Annotator: match by OMIM:606785 ClinVar Annotator: match by term: Crigler Najjar syndrome, type 2 ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, CRIGLER-NAJJAR TYPE II ClinVar Annotator: match by term: Crigler-Najjar syndrome, type II
ClinVar Annotator: match by term: Crigler-Najjar syndrome, type II ClinVar Annotator: match by term: Crigler Najjar syndrome, type 2 ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, CRIGLER-NAJJAR TYPE II
ClinVar Annotator: match by term: Crigler-Najjar syndrome, type II ClinVar Annotator: match by term: Crigler Najjar syndrome, type 2 ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, CRIGLER-NAJJAR TYPE II
ClinVar Annotator: match by term: Crigler-Najjar syndrome, type II ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, CRIGLER-NAJJAR TYPE II ClinVar Annotator: match by term: Crigler Najjar syndrome, type 2
ClinVar Annotator: match by term: Crigler-Najjar syndrome, type II ClinVar Annotator: match by term: Crigler Najjar syndrome, type 2 ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, CRIGLER-NAJJAR TYPE II
ClinVar Annotator: match by term: Crigler-Najjar syndrome, type II ClinVar Annotator: match by term: Crigler Najjar syndrome, type 2 ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, CRIGLER-NAJJAR TYPE II
ClinVar Annotator: match by synonym: Crigler-Najjar syndrome, type II ClinVar Annotator: match by term: Crigler Najjar syndrome, type 2 ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, CRIGLER-NAJJAR TYPE II ClinVar Annotator: match by term: Crigler-Najjar syndrome, type II
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