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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 2
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Accession:DOID:9001368 term browser browse the term
Definition:A condition characterized by silvery, blond, or straw-colored scalp hair that is dry, frizzy, and wiry, has a characteristic sheen, stands away from the scalp in multiple directions, and is impossible to comb. (OMIM)
Synonyms:exact_synonym: UHS2
 primary_id: OMIM:617251


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Uncombable Hair Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgm3 transglutaminase 3 ISO ClinVar Annotator: match by term: Uncombable hair syndrome 2 ClinVar
OMIM		 PMID:24183230 PMID:27866708 NCBI chr 3:117,228,661...117,264,078
Ensembl chr 3:117,228,661...117,264,075 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10833
      Uncombable Hair Syndrome 4
        Uncombable Hair Syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 21128
    Pathological Conditions, Signs and Symptoms 13331
      Signs and Symptoms 10807
        Neurologic Manifestations 10039
          sensory system disease 6940
            skin disease 3960
              hair disease 328
                Uncombable Hair Syndrome 4
                  Uncombable Hair Syndrome 2 1
paths to the root