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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 the CDSN gene 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


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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 PMID:28492532 NCBI chr12:819,488...824,015
Ensembl chr12:820,467...823,986 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17774
    disease of anatomical entity 15146
      integumentary system disease 3751
        hair disease 314
          hypotrichosis 136
            hypotrichosis 2 1
Path 2
Term Annotations click to browse term
  disease 17774
    disease of anatomical entity 15146
      nervous system disease 13207
        Neurologic Manifestations 9572
          sensory system disease 6587
            skin disease 3751
              hair disease 314
                hypotrichosis 136
                  hypotrichosis 2 1
paths to the root