Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP 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:hypotrichosis 6
go back to main search page
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;   Hypotrichosis, Localized, Autosomal Recessive;   Hypotrichosis, Localized, Autosomal Recessive 1;   LAH;   LAH1;   MONILETHRIX-LIKE HYPOTRICHOSIS
 primary_id: MESH:C564312
 alt_id: OMIM:607903;   RDO:0013321
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
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, PMID:25741868, PMID:28492532 NCBI chr18:12,056,113...12,092,858
Ensembl chr18:12,056,113...12,092,858
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    sensory system disease 5213
      skin disease 2758
        hair disease 262
          hypotrichosis 127
            hypotrichosis 6 1
Path 2
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        genetic disease 7859
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal recessive disease 2564
                hypotrichosis 6 1
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.