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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 term: Hypotrichosis 2 OMIM
ClinVar
PMID:3652491 PMID:10793007 PMID:12754508 PMID:25741868 NCBI chr20:3,179,432...3,185,854
Ensembl chr20:3,179,438...3,184,250
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    sensory system disease 6410
      skin disease 3782
        hair disease 257
          hypotrichosis 128
            hypotrichosis 2 1
Path 2
Term Annotations click to browse term
  disease 18156
    Developmental Disease 12940
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11670
        genetic disease 11174
          monogenic disease 8709
            autosomal genetic disease 7745
              autosomal dominant disease 5232
                hypotrichosis 2 1
paths to the root