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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;   RDO:0015655
 alt_id: OMIM:613330
For additional species annotation, visit the Alliance of Genome Resources.


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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 null
ClinVar Annotator: match by term: Spondylo-megaepiphyseal-metaphyseal dysplasia
OMIM
ClinVar
PMID:20004766, PMID:29704686 NCBI chr14:73,813,531...73,818,489
Ensembl chr14:73,813,528...73,815,757
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16096
    Developmental Diseases 9508
      bone development disease 1330
        osteochondrodysplasia 435
          Spondylo-Megaepiphyseal-Metaphyseal Dysplasia 1
Path 2
Term Annotations click to browse term
  disease 16096
    disease of anatomical entity 15346
      Skin and Connective Tissue Diseases 5474
        connective tissue disease 4072
          bone disease 3527
            bone development disease 1330
              osteochondrodysplasia 435
                Spondylo-Megaepiphyseal-Metaphyseal Dysplasia 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.