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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 1F
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Accession:DOID:0110065 term browser browse the term
Definition:Autosomal recessive amelogenesis imperfecta characterized by hypoplastic enamel that may be absent, pitted, or of varying thickness. (OMIM)
Synonyms:exact_synonym: AI1F;   AMELOGENESIS IMPERFECTA, HYPOPLASTIC TYPE IF;   amelogenesis imperfecta type IF
 primary_id: OMIM:616270
 alt_id: RDO:9001337
For additional species annotation, visit the Alliance of Genome Resources.


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amelogenesis imperfecta type 1F term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ambn ameloblastin ISO ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, TYPE IF OMIM
ClinVar
PMID:24858907, PMID:26502894 NCBI chr14:21,239,887...21,252,534
Ensembl chr14:21,240,398...21,252,538
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    Stomatognathic Diseases 976
      tooth disease 279
        teeth hard tissue disease 63
          dental enamel hypoplasia 55
            amelogenesis imperfecta 52
              amelogenesis imperfecta type 1F 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        sensory system disease 5162
          mouth disease 750
            tooth disease 279
              Tooth Abnormalities 148
                dental enamel hypoplasia 55
                  amelogenesis imperfecta 52
                    amelogenesis imperfecta type 1F 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.