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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


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amelogenesis imperfecta type 1A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col17a1 collagen type XVII alpha 1 chain ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1A ClinVar PMID:16199547 PMID:16473856 PMID:17344927 PMID:20301304 PMID:21357940 More... NCBI chr 1:246,530,589...246,577,559
Ensembl chr 1:246,531,367...246,577,632 		JBrowse link
G Lamb3 laminin subunit beta 3 ISO ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, HYPOPLASTIC TYPE IA | ClinVar Annotator: match by term: Amelogenesis imperfecta type 1A | ClinVar Annotator: match by term: Amelogenesis imperfecta, type IA
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7550237 PMID:7698759 PMID:7706760 PMID:8824879 PMID:8983017 More... NCBI chr13:104,833,810...104,875,405
Ensembl chr13:104,833,873...104,875,405 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Stomatognathic Diseases 1347
      tooth disease 446
        teeth hard tissue disease 119
          dental enamel hypoplasia 110
            amelogenesis imperfecta 58
              amelogenesis imperfecta type 1A 2
Path 2
Term Annotations click to browse term
  disease 18969
    Pathological Conditions, Signs and Symptoms 13345
      Signs and Symptoms 10821
        Neurologic Manifestations 10055
          sensory system disease 6961
            mouth disease 1018
              tooth disease 446
                Tooth Abnormalities 284
                  dental enamel hypoplasia 110
                    amelogenesis imperfecta 58
                      amelogenesis imperfecta type 1A 2
paths to the root