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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: MIM:266300


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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:9302268 PMID:10631149 PMID:11933208 PMID:12839583 PMID:12851329 More... NCBI chr19:51,452,448...51,455,375
Ensembl chr19:51,453,239...51,454,192 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    sensory system disease 7376
      skin disease 4320
        pigmentation disease 311
          SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 1
Path 2
Term Annotations click to browse term
  disease 19137
    disease of anatomical entity 18450
      nervous system disease 14357
        Neurologic Manifestations 10449
          sensory system disease 7376
            skin disease 4320
              Skin Abnormalities 1321
                SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 1
paths to the root