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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 13
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Accession:DOID:0110710 term browser browse the term
Definition:A hypotrichosis that has_material_basis_in a autosomal dominant mutation of KRT71 on chromosome 12q13.13. (DO)
Synonyms:exact_synonym: HYPT13;   hypotrichosis with woolly hair
 primary_id: OMIM:615896
 alt_id: RDO:9001603
For additional species annotation, visit the Alliance of Genome Resources.


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hypotrichosis 13 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt71 keratin 71 ISO ClinVar Annotator: match by term: Hypotrichosis 13 ClinVar
OMIM
PMID:22592156 PMID:25741868 NCBI chr 7:132,873,532...132,898,975
Ensembl chr 7:132,873,540...132,882,325
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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 13 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 13 1
paths to the root