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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 II
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Accession:DOID:0070096 term browser browse the term
Definition:An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of the OCA2 gene on chromosome 15q12-q13. (DO)
Synonyms:exact_synonym: Albinoidism;   OCA2;   OCA2-RELATED CONDITION;   albinism 2;   albinism II;   oculocutaneous albinism type 2;   oculocutaneous albinism tyrosinase positive
 related_synonym: ALBINISM, BROWN OCULOCUTANEOUS;   ALBINISM, OCULOCUTANEOUS, TYPE II, MODIFIER OF;   BOCA;   BROWN OCULOCUTANEOUS ALBINISM
 primary_id: MESH:C537730
 alt_id: MIM:203200;   OMIA:002130
 xref: GARD:4038


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oculocutaneous albinism type II term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp5me ATP synthase membrane subunit e ISO ClinVar Annotator: match by term: Tyrosinase-positive oculocutaneous albinism ClinVar PMID:8394174 PMID:8595886 PMID:22334370 PMID:25741868 PMID:27588261 More... NCBI chr14:1,464,788...1,465,989
Ensembl chr14:1,319,868...1,321,013 		JBrowse link
G Mc1r melanocortin 1 receptor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ALBINISM, OCULOCUTANEOUS, TYPE II, MODIFIER OF | ClinVar Annotator: match by term: Tyrosinase-positive oculocutaneous albinism		 OMIM
CTD
ClinVar		 PMID:7581459 PMID:9032047 PMID:9302268 PMID:9571181 PMID:9665397 More... NCBI chr19:68,360,950...68,363,877
Ensembl chr19:51,453,239...51,454,192 		JBrowse link
G Oca2 OCA2 melanosomal transmembrane protein ISO DNA:deletion:exon:699-?-859+?del (human)
DNA:missense mutation:cds:p.G775D (human)
DNA:snps:cds, intron:p.N486Y, c.1045-15T>G (human)
DNA:deletion:exons, introns:IVS9+13636-IVS20-6592del (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: OCA2-related condition | ClinVar Annotator: match by term: Tyrosinase-positive oculocutaneous albinism		 OMIM
CTD
ClinVar
RGD		 PMID:1773534 PMID:7762554 PMID:7874125 PMID:7920637 PMID:8302318 More... RGD:9491820, RGD:9491821, RGD:9491830, RGD:9491836 NCBI chr 1:107,116,278...107,446,093
Ensembl chr 1:107,116,278...107,446,074 		JBrowse link
G Pde6b phosphodiesterase 6B ISO ClinVar Annotator: match by term: Tyrosinase-positive oculocutaneous albinism ClinVar PMID:8394174 PMID:8595886 PMID:22334370 PMID:25741868 PMID:27588261 More... NCBI chr14:1,468,302...1,511,435
Ensembl chr14:1,323,310...1,366,450 		JBrowse link
G Tyrp1 tyrosinase-related protein 1 ISO ClinVar Annotator: match by term: ALBINISM, OCULOCUTANEOUS, TYPE II, MODIFIER OF ClinVar PMID:8651291 PMID:9345097 PMID:18680187 PMID:25741868 PMID:28492532 NCBI chr 5:100,327,111...100,345,657
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 19140
    syndrome 11403
      oculocutaneous albinism 96
        Nonsyndromic Oculocutaneous Albinism 16
          oculocutaneous albinism type II 5
Path 2
Term Annotations click to browse term
  disease 19140
    Pathological Conditions, Signs and Symptoms 13626
      Signs and Symptoms 11222
        Neurologic Manifestations 10464
          sensory system disease 7381
            skin disease 4322
              pigmentation disease 312
                Hypopigmentation 174
                  Albinism 113
                    oculocutaneous albinism 96
                      Nonsyndromic Oculocutaneous Albinism 16
                        oculocutaneous albinism type II 5
paths to the root