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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 4
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Accession:DOID:0110701 term browser browse the term
Definition:A hypotrichosis that has_material_basis_in a autosomal dominant mutation of HR on chromosome 8p21.3. (DO)
Synonyms:exact_synonym: HYPT4;   MUHH1;   Marie Unna congenital hypotrichosis;   Marie Unna hereditary hypotrichosis;   Marie Unna hereditary hypotrichosis 1;   Marie Unna type hypotrichosis;   Marie Unna type hypotrichosis 1
 primary_id: MESH:C535912;   MESH:C567718
 alt_id: OMIM:146550
For additional species annotation, visit the Alliance of Genome Resources.


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hypotrichosis 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hr HR, lysine demethylase and nuclear receptor corepressor ISO ClinVar Annotator: match by OMIM:146550
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypotrichosis 4
ClinVar
CTD
PMID:10777357 PMID:10854110 PMID:11069461 PMID:17680008 PMID:19122663 PMID:19897589 PMID:20659777 PMID:20814945 NCBI chr15:52,241,801...52,261,276
Ensembl chr15:52,241,801...52,261,276
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17126
    sensory system disease 5580
      skin disease 2943
        hair disease 244
          hypotrichosis 119
            hypotrichosis 4 1
Path 2
Term Annotations click to browse term
  disease 17126
    Developmental Disease 10894
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9430
        genetic disease 8941
          monogenic disease 7120
            autosomal genetic disease 6275
              autosomal dominant disease 4449
                hypotrichosis 4 1
paths to the root