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Uncombable Hair Syndrome 3 - Ontology Report - Rat Genome Database

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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:Uncombable Hair Syndrome 3
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Accession:DOID:9003784 term browser browse the term
Synonyms:exact_synonym: UHS3
 primary_id: MIM:617252

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Uncombable Hair Syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TCHH trichohyalin IAGP ClinVar Annotator: match by term: Uncombable hair syndrome 3 OMIM
ClinVar		 PMID:25741868 PMID:27866708 NCBI chr 1:152,106,317...152,115,444
Ensembl chr 1:152,106,317...152,115,444 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 151455
    syndrome 39471
      Uncombable Hair Syndrome 4
        Uncombable Hair Syndrome 3 1
Path 2
Term Annotations click to browse term
  disease 151455
    Pathological Conditions, Signs and Symptoms 70618
      Signs and Symptoms 46271
        Neurologic Manifestations 38616
          sensory system disease 27372
            skin disease 13669
              hair disease 998
                Uncombable Hair Syndrome 4
                  Uncombable Hair Syndrome 3 1
paths to the root