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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 1H
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Accession:DOID:0110064 term browser browse the term
Definition:An autosomal recessive amelogenesis imperfecta characterized by hypoplastic and hypomineralized tooth enamel that may be rough, pitted, and/or discolored. (OMIM)
Synonyms:exact_synonym: AI1H;   amelogenesis imperfecta type IH
 primary_id: OMIM:616221
 alt_id: RDO:9001338
 xref: ICD10CM:K00.5
For additional species annotation, visit the Alliance of Genome Resources.


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amelogenesis imperfecta type 1H term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itgb6 integrin subunit beta 6 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta, type IH OMIM
ClinVar
PMID:24305999, PMID:24319098 NCBI chr 3:46,652,624...46,775,362
Ensembl chr 3:46,652,623...46,726,958
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Stomatognathic Diseases 981
      tooth disease 281
        teeth hard tissue disease 63
          dental enamel hypoplasia 55
            amelogenesis imperfecta 52
              amelogenesis imperfecta type 1H 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        sensory system disease 5213
          mouth disease 754
            tooth disease 281
              Tooth Abnormalities 148
                dental enamel hypoplasia 55
                  amelogenesis imperfecta 52
                    amelogenesis imperfecta type 1H 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.