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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 1A
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Accession:DOID:0110054 term browser browse the term
Definition:An amelogenesis imperfecta that has_material_basis_in heterozygous mutation in the beta-3 laminin gene (LAMB3) on chromosome 1q32. (DO)
Synonyms:exact_synonym: AI1A;   AMELOGENESIS IMPERFECTA, HYPOPLASTIC TYPE IA;   AMELOGENESIS IMPERFECTA, TYPE IA;   Amelogenesis Imperfecta Local Hypoplastic Form;   Hypoplastic type amelogenesis imperfecta;   Local, hypoplastic type of amelogenesis imperfecta;   generalized microdontia
 primary_id: MESH:C538240
 alt_id: OMIM:104530;   RDO:0004192
For additional species annotation, visit the Alliance of Genome Resources.


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amelogenesis imperfecta type 1A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lamb3 laminin subunit beta 3 ISO ClinVar Annotator: match by OMIM:104530
ClinVar Annotator: match by term: Amelogenesis imperfecta, type IA
ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, HYPOPLASTIC TYPE IA
OMIM
ClinVar
PMID:7698759 PMID:7706760 PMID:8824879 PMID:8983017 PMID:9205497 PMID:9242513 PMID:9326326 PMID:9767254 PMID:10577906 PMID:11023379 PMID:11296269 PMID:11298117 PMID:11451332 PMID:11689492 PMID:12813757 PMID:15311214 PMID:15538630 PMID:15663509 PMID:16439963 PMID:16473856 PMID:16674655 PMID:17476356 PMID:21801158 PMID:22931927 PMID:23632796 PMID:23958762 PMID:25708563 PMID:25741868 PMID:25950805 PMID:27062385 PMID:27375110 PMID:28492532 PMID:28830826 PMID:30544381 NCBI chr13:112,031,614...112,073,187
Ensembl chr13:112,031,594...112,073,186
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17129
    Stomatognathic Diseases 993
      tooth disease 295
        teeth hard tissue disease 69
          dental enamel hypoplasia 61
            amelogenesis imperfecta 53
              amelogenesis imperfecta type 1A 1
Path 2
Term Annotations click to browse term
  disease 17129
    disease of anatomical entity 16476
      nervous system disease 12074
        sensory system disease 5584
          mouth disease 771
            tooth disease 295
              Tooth Abnormalities 155
                dental enamel hypoplasia 61
                  amelogenesis imperfecta 53
                    amelogenesis imperfecta type 1A 1
paths to the root