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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 the KRT71 gene on chromosome 12q13.13. (DO)
Synonyms:exact_synonym: HYPT13;   hypotrichosis with woolly hair
 primary_id: OMIM:615896


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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
ISS		 ClinVar Annotator: match by term: Hypotrichosis 13
OMIM:615896		 OMIM
ClinVar
MouseDO		 PMID:22592156 PMID:25741868 NCBI chr 7:132,873,532...132,898,975
Ensembl chr 7:132,873,540...132,882,325 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      integumentary system disease 4047
        hair disease 328
          hypotrichosis 148
            hypotrichosis 13 1
Path 2
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      nervous system disease 14116
        Neurologic Manifestations 10102
          sensory system disease 7022
            skin disease 4047
              hair disease 328
                hypotrichosis 148
                  hypotrichosis 13 1
paths to the root