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Term:Geleophysic Dysplasia 1
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Accession:DOID:9004585 term browser browse the term
Definition:Geleophysic dysplasia-1 is an autosomal recessive disorder characterized by severe short stature, short hands and feet, joint limitations, and skin thickening. Radiologic features include delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies. Affected individuals have characteristic facial features including a 'happy' face with full cheeks, shortened nose, hypertelorism, long and flat philtrum, and thin upper lip. Other distinctive features include progressive cardiac valvular thickening often leading to an early death, toe walking, tracheal stenosis, respiratory insufficiency, and lysosomal-like storage vacuoles in various tissues. GPHYSD1 is caused by homozygous or compound heterozygous mutation in the ADAMTSL2 gene on chromosome 9q34. (OMIM)
Synonyms:exact_synonym: GPHYSD1;   Musladin-Lueke syndrome
 primary_id: OMIM:231050
 alt_id: OMIA:001509;   RDO:0008302
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Geleophysic Dysplasia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADAMTSL2 ADAMTS like 2 JBrowse link 1 273,119,826 273,155,412 RGD:7240710

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Path 1
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  disease 11968
    Pathological Conditions, Signs and Symptoms 6874
      Pathologic Processes 4576
        Growth Disorders 223
          Geleophysic Dysplasia 3
            Geleophysic Dysplasia 1 1
Path 2
Term Annotations click to browse term
  disease 11968
    disease of anatomical entity 11624
      Skin and Connective Tissue Diseases 3588
        connective tissue disease 2323
          bone disease 1802
            bone development disease 971
              osteochondrodysplasia 399
                acromicric dysplasia 5
                  Geleophysic Dysplasia 3
                    Geleophysic Dysplasia 1 1
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