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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:25741868 PMID:30401460 NCBI chr10:91,130,303...91,148,829
Ensembl chr10:91,130,303...91,148,881
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    syndrome 9456
      Trichohepatoneurodevelopmental Syndrome 1
Path 2
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      nervous system disease 13079
        central nervous system disease 11253
          brain disease 10538
            disease of mental health 7449
              Neurodevelopmental Disorders 6102
                Trichohepatoneurodevelopmental Syndrome 1
paths to the root