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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 III
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Accession:DOID:0070097 term browser browse the term
Definition:An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of the TYRP1 gene on chromosome 9p23. (DO)
Synonyms:exact_synonym: OCA3;   Oculocutaneous Albinism Type 3;   ROCA;   Rufous OCA;   TYRP1-RELATED CONDITION;   albinism 3;   albinism III;   rufous oculocutaneous albinism;   xanthism
 primary_id: MESH:C537189
 alt_id: OMIM:203290
 xref: GARD:4039


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oculocutaneous albinism type III term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tyrp1 tyrosinase-related protein 1 ISO ClinVar Annotator: match by term: Oculocutaneous albinism type 3 | ClinVar Annotator: match by term: TYRP1-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8651291 PMID:9345097 PMID:9536098 PMID:15996218 PMID:16199547 More... NCBI chr 5:95,280,982...95,299,516
Ensembl chr 5:95,280,982...95,299,516 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10833
      oculocutaneous albinism 81
        Nonsyndromic Oculocutaneous Albinism 14
          oculocutaneous albinism type III 1
Path 2
Term Annotations click to browse term
  disease 21128
    Pathological Conditions, Signs and Symptoms 13331
      Signs and Symptoms 10807
        Neurologic Manifestations 10039
          sensory system disease 6940
            skin disease 3960
              pigmentation disease 277
                Hypopigmentation 155
                  Albinism 98
                    oculocutaneous albinism 81
                      Nonsyndromic Oculocutaneous Albinism 14
                        oculocutaneous albinism type III 1
paths to the root