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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 2
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Accession:DOID:0110699 term browser browse the term
Definition:A hypotrichosis that has_material_basis_in a autosomal dominant mutation of CDSN on chromosome 6p21.33. (DO)
Synonyms:exact_synonym: HTSS;   HTSS1;   HYPT2;   hypotrichosis simplex of scalp;   hypotrichosis simplex of the scalp 1;   hypotrichosis, Spanish type
 primary_id: MESH:C564143
 alt_id: OMIM:146520;   RDO:0008026;   RDO:0013197
For additional species annotation, visit the Alliance of Genome Resources.


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hypotrichosis 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdsn corneodesmosin ISO ClinVar Annotator: match by OMIM:146520
ClinVar Annotator: match by term: Hypotrichosis 2
OMIM
ClinVar
PMID:3652491 PMID:10793007 PMID:12754508 PMID:25741868 NCBI chr20:3,179,432...3,185,854 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17160
    sensory system disease 5603
      skin disease 2950
        hair disease 246
          hypotrichosis 120
            hypotrichosis 2 1
Path 2
Term Annotations click to browse term
  disease 17160
    Developmental Disease 10925
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9458
        genetic disease 8960
          monogenic disease 7128
            autosomal genetic disease 6280
              autosomal dominant disease 4456
                hypotrichosis 2 1
paths to the root