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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
For additional species annotation, visit the Alliance of Genome Resources.



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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 NCBI chr10:80,064,489...80,069,891
Ensembl chr10:80,064,489...80,069,872
JBrowse link
G Enam enamelin ISO ClinVar Annotator: match by OMIM:104500
ClinVar Annotator: match by term: Amelogenesis imperfecta - hypoplastic autosomal dominant - local
ClinVar Annotator: match by term: Amelogenesis Imperfecta, Dominant
OMIM
ClinVar
RGD
PMID:11487571 PMID:11978766 PMID:14684688 PMID:16246937 PMID:17125728 More... RGD:1598908 NCBI chr14:19,556,729...19,581,433
Ensembl chr14:19,556,729...19,581,425
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17251
    Stomatognathic Diseases 1012
      tooth disease 300
        teeth hard tissue disease 69
          dental enamel hypoplasia 61
            amelogenesis imperfecta 53
              amelogenesis imperfecta type 1B 2
Path 2
Term Annotations click to browse term
  disease 17251
    disease of anatomical entity 16595
      nervous system disease 12130
        sensory system disease 5658
          mouth disease 786
            tooth disease 300
              Tooth Abnormalities 156
                dental enamel hypoplasia 61
                  amelogenesis imperfecta 53
                    amelogenesis imperfecta type 1B 2
paths to the root