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ONTOLOGY REPORT - ANNOTATIONS


Term:Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
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Accession:DOID:9008170 term browser browse the term
Definition:Spondylo-megaepiphyseal-metaphyseal dysplasia is a rare autosomal recessive skeletal dysplasia characterized by disproportionate short stature with a short and stiff neck and trunk; relatively long limbs that may show flexion contractures of the distal joints; delayed and impaired ossification of the vertebral bodies and the presence of large epiphyseal ossification centers and wide growth plates in the long tubular bones; and numerous pseudoepiphyses of the short tubular bones in hands and feet. Spondylo-megaepiphyseal-metaphyseal dysplasia is caused by homozygous inactivating mutations in the NKX3-2 gene on chromosome 4p15. (OMIM)
Synonyms:exact_synonym: SMMD
 primary_id: MESH:C567639;   RDO:0015655
 alt_id: OMIM:613330
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Spondylo-Megaepiphyseal-Metaphyseal Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nkx3-2 NK3 homeobox 2 JBrowse link 14 73,813,531 73,818,489 RGD:7240710
RGD:8554872

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  disease 15603
    Developmental Diseases 8772
      bone development disease 1001
        osteochondrodysplasia 410
          Spondylo-Megaepiphyseal-Metaphyseal Dysplasia 1
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Term Annotations click to browse term
  disease 15603
    disease of anatomical entity 14934
      Skin and Connective Tissue Diseases 4236
        connective tissue disease 2790
          bone disease 2242
            bone development disease 1001
              osteochondrodysplasia 410
                Spondylo-Megaepiphyseal-Metaphyseal Dysplasia 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.