Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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 dominant woolly hair
go back to main search page
Accession:DOID:0111573 term browser browse the term
Definition:A familial woolly hair syndrome that has_material_basis_in heterozygous mutation in KRT74 on chromosome 12q13.13. (DO)
Synonyms:exact_synonym: ADWH
 primary_id: OMIM:194300
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    sensory system disease 5680
      skin disease 2993
        hair disease 256
          familial woolly hair syndrome 6
            autosomal dominant woolly hair 0
Path 2
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        genetic disease 9033
          monogenic disease 7190
            autosomal genetic disease 6337
              autosomal dominant disease 4490
                autosomal dominant woolly hair 0
paths to the root