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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 amelogenesis imperfecta that has_material_basis_in homozygous or compound heterozygous mutation in the integrin beta-6 gene (ITGB6) on chromosome 2q24. (DO)
Synonyms:exact_synonym: AI1H;   amelogenesis imperfecta type IH
 primary_id: OMIM:616221
 alt_id: RDO:9001338
 xref: ICD10CM:K00.5


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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 1H
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9189626 PMID:14970781 PMID:16838342 PMID:24305999 PMID:24319098 More... NCBI chr 3:45,046,295...45,170,532
Ensembl chr 3:45,048,044...45,121,671 		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 1H 1
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 1H 1
paths to the root