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hypotrichosis 12 - 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 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
 xref: MIM:615885;   MONDO:0014384;   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 19140
    disease of anatomical entity 18453
      integumentary system disease 4322
        hair disease 331
          hypotrichosis 150
            hypotrichosis 12 1
Path 2
Term Annotations click to browse term
  disease 19140
    disease of anatomical entity 18453
      nervous system disease 14363
        Neurologic Manifestations 10464
          sensory system disease 7381
            skin disease 4322
              hair disease 331
                hypotrichosis 150
                  hypotrichosis 12 1
paths to the root