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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:oculocutaneous albinism type VII
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Accession:DOID:0070100 term browser browse the term
Definition:An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of C10orf11 on chromosome 10q22.2-q22.3. (DO)
Synonyms:exact_synonym: OCA7;   oculocutaneous albinism type 7
 primary_id: OMIM:615179


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oculocutaneous albinism type VII term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrmda leucine rich melanocyte differentiation associated ISO ClinVar Annotator: match by term: Oculocutaneous albinism type 7
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:23395477 PMID:25741868 PMID:26818737 PMID:28492532 PMID:29345414 More... NCBI chr15:1,223,098...2,284,764
Ensembl chr15:1,225,710...2,284,749 		JBrowse link
G Wdr45 WD repeat domain 45 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:14,776,280...14,782,202
Ensembl chr  X:14,776,293...14,782,202 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10889
      oculocutaneous albinism 81
        Nonsyndromic Oculocutaneous Albinism 14
          oculocutaneous albinism type VII 2
Path 2
Term Annotations click to browse term
  disease 18969
    Pathological Conditions, Signs and Symptoms 13345
      Signs and Symptoms 10821
        Neurologic Manifestations 10055
          sensory system disease 6961
            skin disease 3968
              pigmentation disease 278
                Hypopigmentation 155
                  Albinism 98
                    oculocutaneous albinism 81
                      Nonsyndromic Oculocutaneous Albinism 14
                        oculocutaneous albinism type VII 2
paths to the root