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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 RPL21 on chromosome 13q12.2. (DO)
Synonyms:exact_synonym: HYPT12
 primary_id: OMIM:615885
 alt_id: RDO:9001602
For additional species annotation, visit the Alliance of Genome Resources.


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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 ClinVar
OMIM
PMID:19751230 PMID:21412954 NCBI chr12:8,268,641...8,272,290
Ensembl chr12:8,267,196...8,272,281
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    sensory system disease 5611
      skin disease 2954
        hair disease 246
          hypotrichosis 120
            hypotrichosis 12 1
Path 2
Term Annotations click to browse term
  disease 17205
    Developmental Disease 10918
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9457
        genetic disease 8960
          monogenic disease 7128
            autosomal genetic disease 6276
              autosomal dominant disease 4460
                hypotrichosis 12 1
paths to the root