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hypotrichosis 5 - 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:hypotrichosis 5
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Accession:DOID:0110702 term browser browse the term
Definition:A hypotrichosis that has_material_basis_in a mutation on chromosome 1p21.1-q21.3. (DO)
Synonyms:exact_synonym: EPS8L3-RELATED CONDITION;   HYPT5;   MUHH2;   Marie Unna hereditary hypotrichosis 2
 xref: MESH:C567554;   MIM:612841;   MONDO:0013017

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hypotrichosis 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eps8l3 EPS8 signaling adaptor L3 ISO ClinVar Annotator: match by term: EPS8L3-related condition | ClinVar Annotator: match by term: Hypotrichosis 5 OMIM
ClinVar		 PMID:15347323 PMID:23099647 PMID:25741868 PMID:28492532 NCBI chrNW_004936704:1,241,341...1,251,702 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14641
    disease of anatomical entity 14330
      integumentary system disease 3910
        hair disease 301
          hypotrichosis 128
            hypotrichosis 5 1
Path 2
Term Annotations click to browse term
  disease 14641
    disease of anatomical entity 14330
      nervous system disease 12614
        Neurologic Manifestations 9431
          sensory system disease 6685
            skin disease 3910
              hair disease 301
                hypotrichosis 128
                  hypotrichosis 5 1
paths to the root