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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 6
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Accession:DOID:0110703 term browser browse the term
Definition:A hypotrichosis that has_material_basis_in a autosomal recessive mutation of DSG4 on chromosome 18q12.1. (DO)
Synonyms:exact_synonym: HTL;   HYPT6;   LAH;   LAH1;   MONILETHRIX-LIKE HYPOTRICHOSIS;   localized hypotrichosis, autosomal recessive;   localized hypotrichosis, autosomal recessive 1
 primary_id: MESH:C564312
 alt_id: OMIM:607903
For additional species annotation, visit the Alliance of Genome Resources.



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hypotrichosis 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsg4 desmoglein 4 ISO ClinVar Annotator: match by term: Hypotrichosis 6 OMIM
ClinVar
PMID:12705872 PMID:16439973 PMID:16543896 PMID:16575393 PMID:17392831 More... NCBI chr18:11,720,975...11,756,234
Ensembl chr18:11,720,975...11,756,234
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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
          hypotrichosis 129
            hypotrichosis 6 1
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 recessive disease 3496
                hypotrichosis 6 1
paths to the root