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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: HYPT5;   MUHH2;   Marie Unna hereditary hypotrichosis 2
 primary_id: MESH:C567554
 alt_id: OMIM:612841
 xref: 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 like 3 ISO ClinVar Annotator: match by term: Hypotrichosis 5
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:15347323 PMID:23099647 PMID:25741868 NCBI chr 2:195,514,692...195,528,085
Ensembl chr 2:195,514,692...195,528,085 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21108
    disease of anatomical entity 18147
      integumentary system disease 3899
        hair disease 280
          hypotrichosis 144
            hypotrichosis 5 1
Path 2
Term Annotations click to browse term
  disease 21108
    disease of anatomical entity 18147
      nervous system disease 13987
        Neurologic Manifestations 9970
          sensory system disease 6867
            skin disease 3899
              hair disease 280
                hypotrichosis 144
                  hypotrichosis 5 1
paths to the root