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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:neonatal jaundice
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Accession:DOID:2383 term browser browse the term
Definition:A pigmentation disease characterized by a high level of bilirubin in the blood, causing a yellowing of the skin and other tissues of a newborn infant. (DO)
Synonyms:exact_synonym: icterus gravis neonatorum;   neonatal icterus;   physiological neonatal jaundice;   severe jaundice in neonate;   severe jaundice in newborn
 primary_id: MESH:D007567
 xref: EFO:1000739;   ICD10CM:P59.9;   NCI:C99246
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
neonatal jaundice term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6pd glucose-6-phosphate dehydrogenase ISO DNA:point mutation: :563C>T (human) RGD PMID:24460025 RGD:10449116 NCBI chr  X:152,201,081...152,220,863
Ensembl chr  X:152,201,098...152,220,801 		JBrowse link
G Nr1i2 nuclear receptor subfamily 1, group I, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22371261 NCBI chr11:62,460,213...62,496,665
Ensembl chr11:62,460,213...62,496,658 		JBrowse link
Dubin-Johnson syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc2 ATP binding cassette subfamily C member 2 susceptibility ISO
IMP		 CTD Direct Evidence: marker/mechanism
DNA:missense mutation, deletions:cds:multiple (human)
ClinVar Annotator: match by term: ABCC2-related condition | ClinVar Annotator: match by term: Dubin-Johnson syndrome		 OMIM
CTD
ClinVar
RGD		 PMID:9185779 PMID:9425227 PMID:9536098 PMID:9878557 PMID:10053008 More... RGD:1598616, RGD:69812, RGD:150429696 NCBI chr 1:242,664,657...242,723,239
Ensembl chr 1:242,664,657...242,723,238 		JBrowse link
G Abcc3 ATP binding cassette subfamily C member 3 IEP RGD PMID:14731123 RGD:1598620 NCBI chr10:79,296,681...79,342,749
Ensembl chr10:79,296,693...79,342,595 		JBrowse link
G Rdx radixin ISS OMIM:237500 MouseDO NCBI chr 8:52,379,494...52,437,673
Ensembl chr 8:52,379,494...52,437,678 		JBrowse link
G Slco1a1 solute carrier organic anion transporter family, member 1a1 IEP RGD PMID:14731123 RGD:1598620 NCBI chr 4:174,877,045...174,950,900
Ensembl chr 4:174,876,593...174,950,873 		JBrowse link
G Slco1a4 solute carrier organic anion transporter family, member 1a4 IEP RGD PMID:14731123 RGD:1598620 NCBI chr 4:174,710,004...174,764,810
Ensembl chr 4:174,710,004...175,254,573 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    sensory system disease 7331
      skin disease 4309
        pigmentation disease 307
          neonatal jaundice 9
            Breastfeeding Jaundice 0
            Dubin-Johnson syndrome 6
            kernicterus due to isoimmunization 0
            perinatal jaundice due to hepatocellular damage 0
Path 2
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      nervous system disease 14334
        Neurologic Manifestations 10420
          sensory system disease 7331
            skin disease 4309
              pigmentation disease 307
                neonatal jaundice 9
                  Breastfeeding Jaundice 0
                  Dubin-Johnson syndrome 6
                  kernicterus due to isoimmunization 0
                  perinatal jaundice due to hepatocellular damage 0
paths to the root