Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


Term:amelogenesis imperfecta type 1G
go back to main search page
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
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15620
    Stomatognathic Diseases 866
      tooth disease 239
        teeth hard tissue disease 40
          dental enamel hypoplasia 32
            amelogenesis imperfecta 30
              amelogenesis imperfecta type 1G 2
Path 2
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      nervous system disease 10219
        sensory system disease 4681
          mouth disease 677
            tooth disease 239
              Tooth Abnormalities 112
                dental enamel hypoplasia 32
                  amelogenesis imperfecta 30
                    amelogenesis imperfecta type 1G 2
paths to the root

NHLBI Logo

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