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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 1E
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Accession:DOID:0110058 term browser browse the term
Definition:An amelogenesis imperfecta that has_material_basis_in X-linked dominant mutation in the gene encoding amelogenin (AMELX). (DO)
Synonyms:exact_synonym: AI1E;   AIH1;   AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, WITH SNOW-CAPPED TEETH;   AMELX-RELATED CONDITION;   Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 1;   Amelogenesis Imperfecta, Type 1E, with Snow-Capped Teeth;   amelogenesis imperfecta hypomaturationtype with snow-capped teeth;   amelogenesis imperfecta type IE;   amelogenesis imperfecta, X-linked 1
 broad_synonym: X-linked enamel hypoplasia
 primary_id: MESH:C538243;   MESH:C564463
 alt_id: MIM:301200



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amelogenesis imperfecta type 1E term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amelx amelogenin, X-linked ISO
ISS
CTD Direct Evidence: marker/mechanism
OMIM:301200
ClinVar Annotator: match by term: AMELX-related condition | ClinVar Annotator: match by term: Amelogenesis imperfecta type 1E | ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1E, with snow-capped teeth
OMIM
CTD
MouseDO
ClinVar
PMID:1483698 PMID:1916828 PMID:1967204 PMID:3169793 PMID:4623931 More... NCBI chr  X:25,076,362...25,087,660 JBrowse link
G Arhgap6 Rho GTPase activating protein 6 ISO ClinVar Annotator: match by term: AMELX-related condition | ClinVar Annotator: match by term: Amelogenesis imperfecta type 1E | ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1E, with snow-capped teeth ClinVar PMID:1483698 PMID:1916828 PMID:1967204 PMID:3169793 PMID:4623931 More... NCBI chr  X:24,953,464...25,490,003 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    Stomatognathic Diseases 1375
      tooth disease 466
        teeth hard tissue disease 121
          dental enamel hypoplasia 110
            amelogenesis imperfecta 58
              amelogenesis imperfecta type 1E 2
Path 2
Term Annotations click to browse term
  disease 19139
    Pathological Conditions, Signs and Symptoms 13623
      Signs and Symptoms 11213
        Neurologic Manifestations 10448
          sensory system disease 7376
            mouth disease 1045
              tooth disease 466
                Tooth Abnormalities 298
                  dental enamel hypoplasia 110
                    amelogenesis imperfecta 58
                      amelogenesis imperfecta type 1E 2
paths to the root