Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  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 12
go back to main search page
Accession:DOID:0110709 term browser browse the term
Definition:A hypotrichosis that has_material_basis_in a autosomal dominant mutation of RPL21 on chromosome 13q12.2. (DO)
Synonyms:exact_synonym: HYPT12
 primary_id: OMIM:615885
 alt_id: RDO:9001602
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
hypotrichosis 12 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpl21 ribosomal protein L21 ISO ClinVar Annotator: match by term: Hypotrichosis 12 ClinVar
OMIM
PMID:19751230 PMID:21412954 NCBI chr12:9,996,919...9,999,998
Ensembl chr 3:91,870,208...91,870,690
Ensembl chr12:91,870,208...91,870,690
Ensembl chr  X:91,870,208...91,870,690
Ensembl chr13:91,870,208...91,870,690
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17150
    sensory system disease 5599
      skin disease 2948
        hair disease 245
          hypotrichosis 120
            hypotrichosis 12 1
Path 2
Term Annotations click to browse term
  disease 17150
    Developmental Disease 10920
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9451
        genetic disease 8954
          monogenic disease 7122
            autosomal genetic disease 6276
              autosomal dominant disease 4456
                hypotrichosis 12 1
paths to the root