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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:amelogenesis imperfecta type 1B
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Accession:DOID:0110052 term browser browse the term
Definition:An amelogenesis imperfecta that has_material_basis_in heterozygous mutation in the enamelin gene (ENAM) on chromosome 4q13. (DO)
Synonyms:exact_synonym: AI1B;   AIH2;   amelogenesis imperfecta type IB;   hereditary localized enamel hypoplasia;   hypoplastic local amelogenesis imperfecta, autosomal dominant
 related_synonym: amelogenesis imperfecta, dominant
 primary_id: MESH:C562879
 alt_id: OMIM:104500


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amelogenesis imperfecta type 1B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DLX3 distal-less homeobox 3 ISO ClinVar Annotator: match by term: Amelogenesis Imperfecta, Dominant ClinVar PMID:28492532 NCBI chr 9:26,018,101...26,022,964
Ensembl chr 9:26,017,689...26,022,736 		JBrowse link
G ENAM enamelin ISO ClinVar Annotator: match by term: Amelogenesis Imperfecta, Dominant | ClinVar Annotator: match by term: Amelogenesis imperfecta - hypoplastic autosomal dominant - local | ClinVar Annotator: match by term: Amelogenesis imperfecta type 1B OMIM
ClinVar		 PMID:11487571 PMID:11978766 PMID:14684688 PMID:16246937 PMID:17125728 More... NCBI chr13:59,934,299...59,948,279
Ensembl chr13:59,934,299...59,947,949 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    Stomatognathic Diseases 1298
      tooth disease 432
        teeth hard tissue disease 115
          dental enamel hypoplasia 106
            amelogenesis imperfecta 58
              amelogenesis imperfecta type 1B 2
Path 2
Term Annotations click to browse term
  disease 17773
    Pathological Conditions, Signs and Symptoms 12020
      Signs and Symptoms 9897
        Neurologic Manifestations 9572
          sensory system disease 6589
            mouth disease 974
              tooth disease 432
                Tooth Abnormalities 280
                  dental enamel hypoplasia 106
                    amelogenesis imperfecta 58
                      amelogenesis imperfecta type 1B 2
paths to the root