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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 IB
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Accession:DOID:0070095 term browser browse the term
Definition:An oculocutaneous albinism that has_material_basis_in an autosomal recessive hypomorphic mutation of TYR on chromosome 11q14.3 with retention of some residual protein activity. (DO)
Synonyms:exact_synonym: OCA1B;   albinism, yellow mutant type;   oculocutaneous albinism type 1B;   yellow albinism
 narrow_synonym: OCA1-TS;   oculocutaneous albinism type I, temperature-sensitive
 primary_id: MESH:C537729
 alt_id: OMIM:606952


show annotations for term's descendants           Sort by:
oculocutaneous albinism type IB term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tyr tyrosinase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Oculocutaneous albinism type 1B | ClinVar Annotator: match by term: Yellow albinism		 CTD
ClinVar
OMIM		 PMID:666627 PMID:1429711 PMID:1642278 PMID:1676041 PMID:1711223 More... NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207 		JBrowse link
G Zdhhc15 zinc finger DHHC-type palmitoyltransferase 15 ISO ClinVar Annotator: match by term: Oculocutaneous albinism type 1B ClinVar PMID:25741868 NCBI chr  X:69,568,086...69,701,756
Ensembl chr  X:69,574,124...69,701,756 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    syndrome 10887
      oculocutaneous albinism 81
        Nonsyndromic Oculocutaneous Albinism 14
          Oculocutaneous Albinism Type I, Temperature-Sensitive 2
            oculocutaneous albinism type IB 2
Path 2
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      nervous system disease 14116
        Neurologic Manifestations 10102
          sensory system disease 7022
            skin disease 4047
              pigmentation disease 278
                Hypopigmentation 155
                  Albinism 98
                    oculocutaneous albinism 81
                      Nonsyndromic Oculocutaneous Albinism 14
                        Oculocutaneous Albinism Type I, Temperature-Sensitive 2
                          oculocutaneous albinism type IB 2
paths to the root