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RGD DISEASE ONTOLOGY - ANNOTATIONS

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.

Term:Hyperbilirubinemia, Transient Familial Neonatal
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Accession:DOID:9000599 term browser browse the term
Synonyms:exact_synonym: HBLRTFN
 narrow_synonym: LUCEY-DRISCOLL SYNDROME BREAST MILK JAUNDICE
 primary_id: MESH:C562692;   RDO:0012294
 alt_id: OMIM:237900



show annotations for term's descendants           Sort by:
Hyperbilirubinemia, Transient Familial Neonatal term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ugt1a1 UDP glucuronosyltransferase family 1 member A1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Transient familial neonatal hyperbilirubinemia
OMIM
CTD
ClinVar
PMID:8706880 PMID:9630669 PMID:9784835 PMID:9929972 PMID:10412811 More... NCBI chr 9:88,801,344...88,808,465
Ensembl chr 9:88,713,184...88,808,465
JBrowse link
G Ugt1a2 UDP glucuronosyltransferase 1 family, polypeptide A2 ISO ClinVar Annotator: match by term: Transient familial neonatal hyperbilirubinemia ClinVar PMID:8706880 PMID:9630669 PMID:9784835 PMID:9929972 PMID:10412811 More... NCBI chr 9:88,791,216...88,808,465
Ensembl chr 9:88,713,184...88,808,465
JBrowse link
G Ugt1a3 UDP glycosyltransferase 1 family, polypeptide A3 ISO ClinVar Annotator: match by term: Transient familial neonatal hyperbilirubinemia ClinVar PMID:8706880 PMID:9630669 PMID:9784835 PMID:9929972 PMID:10412811 More... NCBI chr 9:88,780,328...88,808,465
Ensembl chr 9:88,713,184...88,808,465
JBrowse link
G Ugt1a5 UDP glucuronosyltransferase family 1 member A5 ISO ClinVar Annotator: match by term: Transient familial neonatal hyperbilirubinemia ClinVar PMID:8706880 PMID:9630669 PMID:9784835 PMID:9929972 PMID:10412811 More... NCBI chr 9:88,762,250...88,808,465
Ensembl chr 9:88,713,184...88,808,465
JBrowse link
G Ugt1a6 UDP glucuronosyltransferase family 1 member A6 ISO ClinVar Annotator: match by term: Transient familial neonatal hyperbilirubinemia ClinVar PMID:8706880 PMID:9630669 PMID:9784835 PMID:9929972 PMID:10412811 More... NCBI chr 9:88,747,213...88,808,465
Ensembl chr 9:88,713,184...88,808,465
JBrowse link
G Ugt1a9 UDP glucuronosyltransferase family 1 member A9 ISO ClinVar Annotator: match by term: Transient familial neonatal hyperbilirubinemia ClinVar PMID:8706880 PMID:9630669 PMID:9784835 PMID:9929972 PMID:10412811 More... NCBI chr 9:88,696,981...88,808,465
Ensembl chr 9:88,713,184...88,808,465
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21120
    Pathological Conditions, Signs and Symptoms 13299
      Pathologic Processes 7942
        bilirubin metabolic disorder 72
          Hereditary Hyperbilirubinemia 16
            Hyperbilirubinemia, Transient Familial Neonatal 6
Path 2
Term Annotations click to browse term
  disease 21120
    Developmental Disease 18439
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18300
        genetic disease 18244
          inherited metabolic disorder 6206
            bilirubin metabolic disorder 72
              Hereditary Hyperbilirubinemia 16
                Hyperbilirubinemia, Transient Familial Neonatal 6
paths to the root