Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

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 IV
go back to main search page
Accession:DOID:0070098 term browser browse the term
Definition:An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of the SLC45A2 gene on chromosome 5p13.2. (DO)
Synonyms:exact_synonym: OCA4;   SLC45A2-RELATED CONDITION;   oculocutaneous albinism type 4
 primary_id: MESH:C564696
 alt_id: MIM:606574;   OMIA:001821


show annotations for term's descendants           Sort by:
oculocutaneous albinism type IV term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Albinism, oculocutaneous, type IV ClinVar PMID:25326637 PMID:25741868 PMID:28492532 NCBI chr 3:31,606,475...31,755,097
Ensembl chr 3:11,208,512...11,354,588 		JBrowse link
G Mitf melanocyte inducing transcription factor ISO ClinVar Annotator: match by term: Oculocutaneous albinism type 4 ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:131,965,676...132,177,790
Ensembl chr 4:130,409,217...130,621,145 		JBrowse link
G Slc45a2 solute carrier family 45, member 2 ISO DNA:missense mutations, frameshift mutations:cds:multiple (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Albinism, oculocutaneous, type IV | ClinVar Annotator: match by term: Oculocutaneous albinism type 4 | ClinVar Annotator: match by term: SLC45A2-related condition		 OMIM
CTD
ClinVar
RGD		 PMID:11574907 PMID:14070830 PMID:14722913 PMID:14961451 PMID:15565285 More... RGD:1599921 NCBI chr 2:59,963,599...59,996,408
Ensembl chr 2:59,963,706...59,996,317 		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 IV 3
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 IV 3
paths to the root