ONTOLOGY REPORT - ANNOTATIONS


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;   Amelogenesis Imperfecta, Hypoplastic, and 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
 primary_id: MESH:C538241
 alt_id: OMIM:204690;   RDO:0004193;   RDO:0016138
 xref: ORDO:1031
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amelogenesis imperfecta type 1G term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fam20a FAM20A, golgi associated secretory pathway pseudokinase JBrowse link 10 97,962,467 98,017,171 RGD:7240710
RGD:8554872
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha JBrowse link 10 97,940,705 97,959,199 RGD:8554872

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Path 1
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  disease 14875
    Nutritional and Metabolic Diseases 4249
      disease of metabolism 4249
        calcium metabolism disease 262
          calcinosis 231
            nephrocalcinosis 19
              amelogenesis imperfecta type 1G 2
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        sensory system disease 4246
          mouth disease 660
            tooth disease 224
              teeth hard tissue disease 36
                dental enamel hypoplasia 30
                  amelogenesis imperfecta 28
                    amelogenesis imperfecta type 1G 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.