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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:autosomal recessive woolly hair 3
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Accession:DOID:0111574 term browser browse the term
Definition:A familial woolly hair syndrome that has_material_basis_in homozygous or compound heterozygous mutation in KRT24 on chromosome 17q21.2. (DO)
Synonyms:exact_synonym: ARWH3;   AUTOSOMAL RECESSIVE HYPOTRICHOSIS WITH WOOLLY HAIR
 primary_id: OMIM:616760
For additional species annotation, visit the Alliance of Genome Resources.


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autosomal recessive woolly hair 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt25 keratin 25 ISO ClinVar Annotator: match by term: Autosomal Recessive Hypotrichosis with Woolly Hair
ClinVar Annotator: match by OMIM:616760
ClinVar
OMIM
PMID:24824130 PMID:26160856 PMID:26902920 NCBI chr10:87,225,361...87,238,659
Ensembl chr10:87,225,343...87,232,723
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17147
    disease of anatomical entity 16492
      integumentary system disease 2947
        hair disease 245
          hypotrichosis 120
            autosomal recessive woolly hair 3 1
Path 2
Term Annotations click to browse term
  disease 17147
    Developmental Disease 10919
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9449
        genetic disease 8952
          monogenic disease 7121
            autosomal genetic disease 6275
              autosomal recessive disease 3443
                Autosomal Recessive Woolly Hair 3
                  autosomal recessive woolly hair 3 1
paths to the root