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RGD uses the Human Disease Ontology (DO, 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:Trichohepatoneurodevelopmental Syndrome
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Accession:DOID:9007682 term browser browse the term
Synonyms:exact_synonym: THNS;   global developmental delay with dysmorphic features, liver dysfunction, pruritus, and woolly hair
 primary_id: OMIM:618268
For additional species annotation, visit the Alliance of Genome Resources.

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Trichohepatoneurodevelopmental Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc47 coiled-coil domain containing 47 ISO ClinVar Annotator: match by term: Trichohepatoneurodevelopmental syndrome OMIM
PMID:30401460 NCBI chr10:94,388,425...94,406,949
Ensembl chr10:94,388,430...94,406,949
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    syndrome 7003
      Trichohepatoneurodevelopmental Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        central nervous system disease 9045
          brain disease 8370
            disease of mental health 6047
              Neurodevelopmental Disorders 4619
                Trichohepatoneurodevelopmental Syndrome 1
paths to the root


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.