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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 12
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Accession:DOID:0110709 term browser browse the term
Definition:A hypotrichosis that has_material_basis_in a autosomal dominant mutation of the RPL21 gene on chromosome 13q12.2. (DO)
Synonyms:exact_synonym: HYPT12;   hypotrichosis type 12
 primary_id: OMIM:615885
 xref: ORDO:55654


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hypotrichosis 12 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpl21 ribosomal protein L21 ISO ClinVar Annotator: match by term: Hypotrichosis 12 OMIM
ClinVar		 PMID:19751230 PMID:21412954 NCBI chr12:8,268,641...8,272,278
Ensembl chr12:8,267,196...8,272,281
Ensembl chr 3:8,267,196...8,272,281
Ensembl chr13:8,267,196...8,272,281 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      integumentary system disease 3968
        hair disease 328
          hypotrichosis 148
            hypotrichosis 12 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        Neurologic Manifestations 10055
          sensory system disease 6961
            skin disease 3968
              hair disease 328
                hypotrichosis 148
                  hypotrichosis 12 1
paths to the root