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ONTOLOGY REPORT - ANNOTATIONS


Term:X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2
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Accession:DOID:0110059 term browser browse the term
Definition:An amelogenesis imperfecta associated with mutation in a gene in the Xq22-q28 region. (DO)
Synonyms:exact_synonym: AIH3;   AMELOGENESIS IMPERFECTA 3, HYPOPLASTIC TYPE;   ENAMEL HYPOPLASIA, X-LINKED;   amelogenesis imperfecta type IE X-linked 2
 primary_id: OMIM:301201;   RDO:0008662
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Burnett Schwartz Berberian Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lrp1 LDL receptor related protein 1 JBrowse link 7 70,846,313 70,927,028 RGD:8554872
KERATOSIS PILARIS ATROPHICANS term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lrp1 LDL receptor related protein 1 JBrowse link 7 70,846,313 70,927,028 RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15590
    Stomatognathic Diseases 867
      tooth disease 238
        teeth hard tissue disease 38
          dental enamel hypoplasia 32
            amelogenesis imperfecta 30
              X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 1
                Burnett Schwartz Berberian Syndrome + 1
Path 2
Term Annotations click to browse term
  disease 15590
    disease of anatomical entity 14919
      nervous system disease 10196
        sensory system disease 4659
          mouth disease 678
            tooth disease 238
              Tooth Abnormalities 112
                dental enamel hypoplasia 32
                  amelogenesis imperfecta 30
                    X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 1
                      Burnett Schwartz Berberian Syndrome + 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.