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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 IA
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Accession:DOID:0070094 term browser browse the term
Definition:An oculocutaneous albinism that has_material_basis_in an autosomal recessive null mutation of TYR on chromosome 11q14.3 with no residual protein activity. (DO)
Synonyms:exact_synonym: ATN;   OCA1;   OCA1A;   Oculocutaneous Albinism Type 1;   albinism 1;   albinism I;   oculocutaneous albinism type 1A;   oculocutaneous albinism, type I;   oculocutaneous albinism, tyrosinase negative
 primary_id: MESH:C537728
 alt_id: OMIM:203100
 xref: NCI:C168731


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oculocutaneous albinism type IA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tyr tyrosinase treatment ISO DNA:missense mutation:exon: p.I151S(human)
DNA:mutations:multiple:
DNa:mutations:cds:p.R77Q,p.P310insC,p.D383N(human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Oculocutaneous albinism type 1 | ClinVar Annotator: match by term: Tyrosinase-negative oculocutaneous albinism		 CTD
ClinVar
OMIM
RGD		 PMID:666627 PMID:1429711 PMID:1642278 PMID:1676041 PMID:1711223 More... RGD:8694334, RGD:8694335, RGD:8694335, RGD:8694337, RGD:8694340 NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207 		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 IA 1
Path 2
Term Annotations click to browse term
  disease 18976
    Pathological Conditions, Signs and Symptoms 13376
      Signs and Symptoms 10866
        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 IA 1
paths to the root