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ONTOLOGY REPORT - ANNOTATIONS


Term:Opsismodysplasia
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Accession:DOID:9002202 term browser browse the term
Definition:Opsismodysplasia is a rare skeletal dysplasia involving delayed bone maturation. Clinical signs observed at birth include short limbs, small hands and feet, relative macrocephaly with a large anterior fontanel, and characteristic craniofacial abnormalities including a prominent brow, depressed nasal bridge, a small anteverted nose, and a relatively long philtrum. Death in utero or secondary to respiratory failure during the first few years of life has been reported, but there can be long-term survival. Typical radiographic findings include shortened long bones with delayed epiphyseal ossification, severe platyspondyly, metaphyseal cupping, and characteristic abnormalities of the metacarpals and phalanges.
Synonyms:exact_synonym: OPSMD
 primary_id: MESH:C537122;   OMIM:258480
 alt_id: RDO:0002894
For additional species annotation, visit the Alliance of Genome Resources.


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Opsismodysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Inppl1 inositol polyphosphate phosphatase-like 1 JBrowse link 1 166,898,177 166,912,524 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15639
    Developmental Diseases 8774
      bone development disease 1001
        osteochondrodysplasia 410
          Opsismodysplasia 1
Path 2
Term Annotations click to browse term
  disease 15639
    disease of anatomical entity 14969
      Skin and Connective Tissue Diseases 4236
        connective tissue disease 2786
          bone disease 2238
            bone development disease 1001
              osteochondrodysplasia 410
                Opsismodysplasia 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.