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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, 1
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Accession:DOID:9000752 term browser browse the term
Synonyms:exact_synonym: BEY2;   BROWN EYE COLOR 2;   EYCL3;   EYE COLOR 3;   EYE COLOR, BLUE/NONBLUE;   EYE COLOR, BROWN/BLUE;   HAIR COLOR 3;   HCL3;   SHEP1;   SKIN/HAIR/EYE PIGMENTATION 1, BLOND/BROWN HAIR;   SKIN/HAIR/EYE PIGMENTATION 1, BLUE/BROWN EYES;   SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
 broad_synonym: HERC2-RELATED CONDITION
 primary_id: MIM:227220;   RDO:9001117


show annotations for term's descendants           Sort by:
Skin/Hair/Eye Pigmentation, Variation In, 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: HERC2-related condition | ClinVar Annotator: match by term: SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES OMIM
ClinVar		 PMID:17236130 PMID:17952075 PMID:18172690 PMID:18252221 PMID:18252222 More... NCBI chr 1:106,904,789...107,110,997
Ensembl chr 1:106,880,084...107,108,134 		JBrowse link
G Irf4 interferon regulatory factor 4 ISO ClinVar Annotator: match by term: SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES ClinVar PMID:25741868 NCBI chr17:33,721,800...33,742,570
Ensembl chr17:33,721,811...33,740,070 		JBrowse link
G Oca2 OCA2 melanosomal transmembrane protein ISO ClinVar Annotator: match by term: SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES OMIM
ClinVar		 PMID:1773534 PMID:7762554 PMID:7874125 PMID:8302318 PMID:8980282 More... NCBI chr 1:107,116,278...107,446,093
Ensembl chr 1:107,116,278...107,446,074 		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, 1 3
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, 1 3
paths to the root