Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP 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 IC OMIM
ClinVar
PMID:14684688, PMID:16246937, PMID:17125728, PMID:19329462, PMID:20439930, PMID:21597265, PMID:28492532 NCBI chr14:21,194,635...21,219,529
Ensembl chr14:21,194,664...21,219,454
JBrowse link
G Mmp20 matrix metallopeptidase 20 ISO ClinVar Annotator: match by term: Amelogenesis Imperfecta, Recessive ClinVar NCBI chr 8:5,823,147...5,875,555
Ensembl chr 8:5,833,359...5,875,232
JBrowse link
G Wdr72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Amelogenesis Imperfecta, Recessive ClinVar PMID:25741868 NCBI chr 8:80,965,734...81,125,710
Ensembl chr 8:80,965,255...81,039,246
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Stomatognathic Diseases 981
      tooth disease 281
        teeth hard tissue disease 63
          dental enamel hypoplasia 55
            amelogenesis imperfecta 52
              amelogenesis imperfecta type 1C 3
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        sensory system disease 5213
          mouth disease 754
            tooth disease 281
              Tooth Abnormalities 148
                dental enamel hypoplasia 55
                  amelogenesis imperfecta 52
                    amelogenesis imperfecta type 1C 3
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.