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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:SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2
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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
 primary_id: OMIM:266300
For additional species annotation, visit the Alliance of Genome Resources.



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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 OMIM
ClinVar
PMID:12839583 PMID:17072629 PMID:18067130 PMID:23522749 PMID:23647022 More... NCBI chr19:51,452,448...51,455,375
Ensembl chr19:51,453,239...51,454,192
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18154
    sensory system disease 6409
      skin disease 3783
        pigmentation disease 450
          SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 1
Path 2
Term Annotations click to browse term
  disease 18154
    disease of anatomical entity 17529
      nervous system disease 13192
        sensory system disease 6409
          skin disease 3783
            pigmentation disease 450
              SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 1
paths to the root