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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;   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: OMIM:301200


show annotations for term's descendants           Sort by:
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		 ClinVar Annotator: match by term: Amelogenesis imperfecta type 1E | ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1E, with snow-capped teeth
CTD Direct Evidence: marker/mechanism
OMIM:301200		 OMIM
ClinVar
CTD
MouseDO		 PMID:1483698 PMID:1916828 PMID:1967204 PMID:3169793 PMID:4623931 More... NCBI chr  X:25,076,362...25,087,660
Ensembl chr  X:25,076,362...25,087,660 		JBrowse link
G Arhgap6 Rho GTPase activating protein 6 ISO 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
Ensembl chr  X:24,953,464...25,488,663 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Stomatognathic Diseases 1347
      tooth disease 446
        teeth hard tissue disease 119
          dental enamel hypoplasia 110
            amelogenesis imperfecta 58
              amelogenesis imperfecta type 1E 2
Path 2
Term Annotations click to browse term
  disease 18969
    Pathological Conditions, Signs and Symptoms 13345
      Signs and Symptoms 10821
        Neurologic Manifestations 10055
          sensory system disease 6961
            mouth disease 1018
              tooth disease 446
                Tooth Abnormalities 284
                  dental enamel hypoplasia 110
                    amelogenesis imperfecta 58
                      amelogenesis imperfecta type 1E 2
paths to the root