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:amelogenesis imperfecta type 2A6
go back to main search page
Accession:DOID:0080960 term browser browse the term
Definition:An amelogenesis imperfecta that is characterized by enamel of normal thickness that is hypomineralized and has a mottled appearance and that has_material_basis_in homozygous mutation in the G protein-coupled receptor-68 (GPR68) on chromosome 14q32. (DO)
Synonyms:exact_synonym: AI2A6;   Amelogenesis Imperfecta Hypomaturation Type, 2A6;   Amelogenesis Imperfecta, Hypomaturation Type, IIA6
 primary_id: MIM:617217
 alt_id: DOID:9006208

GViewer not supported for the selected species.

show annotations for term's descendants           Sort by:
amelogenesis imperfecta type 2A6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpr68 G protein-coupled receptor 68 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta, hypomaturation type, IIa6 OMIM
ClinVar		 PMID:25741868 PMID:27693231 NCBI chrNW_004624734:11,338,233...11,370,239
Ensembl chrNW_004624734:11,360,053...11,368,757 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14212
    Developmental Disease 12486
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11722
        genetic disease 11443
          monogenic disease 9835
            autosomal genetic disease 9440
              autosomal recessive disease 6458
                amelogenesis imperfecta type 2A6 1
Path 2
Term Annotations click to browse term
  disease 14212
    disease of anatomical entity 13927
      nervous system disease 12263
        Neurologic Manifestations 9155
          sensory system disease 6499
            mouth disease 943
              tooth disease 430
                Tooth Abnormalities 281
                  dental enamel hypoplasia 104
                    amelogenesis imperfecta 56
                      Amelogenesis Imperfecta Hypomaturation Type 6
                        amelogenesis imperfecta type 2A6 1
paths to the root