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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: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
 alt_id: MIM:613330


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Spondylo-Megaepiphyseal-Metaphyseal Dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NKX3-2 NK3 homeobox 2 ISO ClinVar Annotator: match by term: Spondylo-megaepiphyseal-metaphyseal dysplasia OMIM
ClinVar		 PMID:20004766 PMID:25741868 PMID:28492532 PMID:29704686 NCBI chr 8:9,179,061...9,183,340
Ensembl chr 8:9,179,232...9,182,892 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15393
    Developmental Disease 13424
      bone development disease 2314
        osteochondrodysplasia 860
          Spondylo-Megaepiphyseal-Metaphyseal Dysplasia 1
Path 2
Term Annotations click to browse term
  disease 15393
    disease of anatomical entity 15087
      musculoskeletal system disease 7874
        connective tissue disease 5420
          bone disease 3919
            bone development disease 2314
              osteochondrodysplasia 860
                Spondylo-Megaepiphyseal-Metaphyseal Dysplasia 1
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