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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;   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.


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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: Enamel-renal syndrome
ClinVar Annotator: match by term: Amelogenesis imperfecta and gingival fibromatosis syndrome
OMIM
ClinVar
PMID:18597613 PMID:21549343 PMID:21990045 PMID:23434854 PMID:23468644 PMID:24196488 PMID:25741868 NCBI chr10:97,962,467...98,017,171
Ensembl chr10:97,962,693...98,018,014
JBrowse link
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha ISO ClinVar Annotator: match by term: Enamel-renal syndrome
ClinVar Annotator: match by term: Amelogenesis imperfecta and gingival fibromatosis syndrome
ClinVar PMID:21990045 PMID:23434854 PMID:23468644 PMID:24196488 PMID:25741868 NCBI chr10:97,940,705...97,959,199
Ensembl chr10:97,940,705...97,957,336
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    Stomatognathic Diseases 971
      tooth disease 285
        teeth hard tissue disease 64
          dental enamel hypoplasia 56
            amelogenesis imperfecta 53
              amelogenesis imperfecta type 1G 2
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        sensory system disease 5176
          mouth disease 750
            tooth disease 285
              Tooth Abnormalities 149
                dental enamel hypoplasia 56
                  amelogenesis imperfecta 53
                    amelogenesis imperfecta type 1G 2
paths to the root