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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 hypomaturation type 2A2
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Accession:DOID:0110060 term browser browse the term
Definition:An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the matrix metalloproteinase-20 gene (MMP20). (DO)
Synonyms:exact_synonym: AI2A2;   amelogenesis imperfecta hypomaturation type IIA2;   amelogenesis imperfecta type IIA2;   amelogenesis imperfecta, pigmented hypomaturation type, 2
 xref: MESH:C567279;   MIM:612529;   MONDO:0012926


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amelogenesis imperfecta hypomaturation type 2A2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mmp20 matrix metallopeptidase 20 ISO
ISS 		CTD Direct Evidence: marker/mechanism
OMIM:612529
ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A2 | ClinVar Annotator: match by term: Amelogenesis imperfecta, hypomaturation type, IIA2 | ClinVar Annotator: match by term: Amelogenesis imperfecta, type IIA2 		OMIM
CTD
MouseDO
ClinVar		 PMID:15744043 PMID:16246936 PMID:18096894 PMID:19966041 PMID:21597265 More... NCBI chr 8:4,789,415...4,830,035
Ensembl chr 8:13,074,279...13,114,894 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13780
        genetic disease 13401
          monogenic disease 10835
            autosomal genetic disease 10302
              autosomal recessive disease 7090
                amelogenesis imperfecta hypomaturation type 2A2 1
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        Neurologic Manifestations 10446
          sensory system disease 7348
            mouth disease 1044
              tooth disease 468
                Tooth Abnormalities 301
                  dental enamel hypoplasia 110
                    amelogenesis imperfecta 58
                      Amelogenesis Imperfecta Hypomaturation Type 6
                        amelogenesis imperfecta hypomaturation type 2A2 1
paths to the root