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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: LRMDA-RELATED CONDITION;   OCA7;   oculocutaneous albinism type 7
 primary_id: MIM: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: LRMDA-related condition | ClinVar Annotator: match by term: Oculocutaneous albinism type 7 OMIM
ClinVar		 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
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19134
    syndrome 11397
      oculocutaneous albinism 93
        Nonsyndromic Oculocutaneous Albinism 13
          oculocutaneous albinism type VII 1
Path 2
Term Annotations click to browse term
  disease 19134
    Pathological Conditions, Signs and Symptoms 13617
      Signs and Symptoms 11204
        Neurologic Manifestations 10440
          sensory system disease 7375
            skin disease 4319
              pigmentation disease 309
                Hypopigmentation 171
                  Albinism 110
                    oculocutaneous albinism 93
                      Nonsyndromic Oculocutaneous Albinism 13
                        oculocutaneous albinism type VII 1
paths to the root