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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;   ROCA;   albinism 3;   albinism III;   oculocutaneous albinism type 3;   rufous OCA;   rufous oculocutaneous albinism;   xanthism
 broad_synonym: TYRP1-related condition
 xref: GARD:4039;   MESH:C537189;   MIM:203290;   MONDO:0008747


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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Oculocutaneous albinism type 3 | ClinVar Annotator: match by term: Rufous OCA | ClinVar Annotator: match by term: TYRP1-related condition | ClinVar Annotator: match by term: Xanthism		 OMIM
CTD
ClinVar		 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 19139
    syndrome 11404
      oculocutaneous albinism 96
        Nonsyndromic Oculocutaneous Albinism 16
          oculocutaneous albinism type III 1
Path 2
Term Annotations click to browse term
  disease 19139
    Pathological Conditions, Signs and Symptoms 13625
      Signs and Symptoms 11221
        Neurologic Manifestations 10463
          sensory system disease 7383
            skin disease 4322
              pigmentation disease 312
                Hypopigmentation 174
                  Albinism 113
                    oculocutaneous albinism 96
                      Nonsyndromic Oculocutaneous Albinism 16
                        oculocutaneous albinism type III 1
paths to the root