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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: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


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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
ClinVar		 PMID:25741868 PMID:30401460 NCBI chr10:91,130,303...91,148,829
Ensembl chr10:91,130,303...91,148,881 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10888
      Trichohepatoneurodevelopmental Syndrome 1
Path 2
Term Annotations click to browse term
  disease 18969
    Pathological Conditions, Signs and Symptoms 13343
      Signs and Symptoms 10819
        Neurologic Manifestations 10053
          sensory system disease 6962
            skin disease 3969
              Pruritus 15
                Trichohepatoneurodevelopmental Syndrome 1
paths to the root