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:SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2
go back to main search page
Accession:DOID:9003838 term browser browse the term
Definition:This pigment variation is a phenotype predominantly characterized by red hair and fair skin.
Synonyms:exact_synonym: BLOND HAIR/FAIR SKIN;   HAIR COLOR 2;   HCL2;   RED HAIR COLOR;   RHA;   RHC;   SHEP2
 pimary_id: OMIM:266300
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mc1r melanocortin 1 receptor ISO ClinVar Annotator: match by term: RED HAIR COLOR
ClinVar Annotator: match by term: Skin/hair/eye pigmentation, variation in, 2
ClinVar
OMIM
PMID:12839583 PMID:18067130 PMID:23522749 PMID:23647022 PMID:24335900 More... NCBI chr19:51,452,448...51,455,375 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17208
    sensory system disease 5611
      skin disease 2954
        pigmentation disease 221
          SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 1
Path 2
Term Annotations click to browse term
  disease 17208
    disease of anatomical entity 16554
      nervous system disease 12100
        sensory system disease 5611
          skin disease 2954
            pigmentation disease 221
              SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 1
paths to the root