Send us a Message



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

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 1C
go back to main search page
Accession:DOID:0110056 term browser browse the term
Definition:An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the enamelin gene (ENAM). (DO)
Synonyms:exact_synonym: AI1C;   Amelogenesis Imperfecta, Local Hypoplastic Type, Autosomal Recessive;   amelogenesis imperfecta type IC;   hypoplastic amelogenesis imperfecta, with or without openbite malocclusion, autosomal recessive
 related_synonym: amelogenesis imperfecta, recessive
 primary_id: MESH:C567147
 alt_id: OMIM:204650
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
amelogenesis imperfecta type 1C term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Enam enamelin ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1C OMIM
ClinVar
PMID:14684688 PMID:16246937 PMID:17125728 PMID:19329462 PMID:20439930 More... NCBI chr14:19,556,729...19,581,433
Ensembl chr14:19,556,729...19,581,425
JBrowse link
G Mmp20 matrix metallopeptidase 20 ISO ClinVar Annotator: match by term: Amelogenesis Imperfecta, Recessive ClinVar NCBI chr 8:4,789,415...4,830,035
Ensembl chr 8:4,789,415...4,830,035
JBrowse link
G Wdr72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Amelogenesis Imperfecta, Recessive ClinVar PMID:25741868 NCBI chr 8:74,838,338...75,020,938
Ensembl chr 8:74,838,318...75,018,229
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    Stomatognathic Diseases 1190
      tooth disease 316
        teeth hard tissue disease 72
          dental enamel hypoplasia 64
            amelogenesis imperfecta 55
              amelogenesis imperfecta type 1C 3
Path 2
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      nervous system disease 13193
        sensory system disease 6410
          mouth disease 867
            tooth disease 316
              Tooth Abnormalities 174
                dental enamel hypoplasia 64
                  amelogenesis imperfecta 55
                    amelogenesis imperfecta type 1C 3
paths to the root