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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 1G
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Accession:DOID:0110066 term browser browse the term
Definition:An amelogenesis imperfecta that has_material_basis_in homozygous or compound heterozygous mutation in the FAM20A gene on chromosome 17q24. (DO)
Synonyms:exact_synonym: AI1G;   AIGFS;   AMELOGENESIS IMPERFECTA AND GINGIVAL FIBROMATOSIS SYNDROME;   AMELOGENESIS IMPERFECTA, HYPOPLASTIC, WITH NEPHROCALCINOSIS;   ERS;   absent enamel, nephrocalcinosis and apparently normal calcium metabolism;   amelogenesis imperfecta nephrocalcinosis;   amelogenesis imperfecta type IG;   enamel renal syndrome;   enamel-renal-gingival syndrome;   generalized enamel hypoplasia and renal dysfunction;   hypoplastic amelogenesis imperfecta and nephrocalcinosis
 primary_id: MESH:C538241
 alt_id: OMIM:204690
 xref: ORDO:1031

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amelogenesis imperfecta type 1G term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam20a FAM20A golgi associated secretory pathway pseudokinase ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1G | ClinVar Annotator: match by term: Generalized enamel hypoplasia and renal dysfunction OMIM
ClinVar		 PMID:18597613 PMID:21549343 PMID:21990045 PMID:23434854 PMID:23468644 More... NCBI chrNW_004936541:7,867,856...7,916,145
Ensembl chrNW_004936541:7,867,303...7,916,154 		JBrowse link
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1G | ClinVar Annotator: match by term: Generalized enamel hypoplasia and renal dysfunction ClinVar PMID:21990045 PMID:23434854 PMID:23468644 PMID:24196488 PMID:25741868 More... NCBI chrNW_004936541:7,845,876...7,863,677
Ensembl chrNW_004936541:7,845,676...7,863,709 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    Stomatognathic Diseases 1245
      tooth disease 408
        teeth hard tissue disease 111
          dental enamel hypoplasia 104
            amelogenesis imperfecta 56
              amelogenesis imperfecta type 1G 2
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14116
      nervous system disease 12340
        Neurologic Manifestations 9046
          sensory system disease 6279
            mouth disease 930
              tooth disease 408
                Tooth Abnormalities 269
                  dental enamel hypoplasia 104
                    amelogenesis imperfecta 56
                      amelogenesis imperfecta type 1G 2
paths to the root