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ONTOLOGY REPORT - ANNOTATIONS


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 3 5,624,473 5,654,890 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 15620
    Pathological Conditions, Signs and Symptoms 8034
      Pathologic Processes 5088
        Growth Disorders 248
          Geleophysic Dysplasia 3
            Geleophysic Dysplasia 1 1
Path 2
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      Skin and Connective Tissue Diseases 4223
        connective tissue disease 2775
          bone disease 2227
            bone development disease 994
              osteochondrodysplasia 408
                acromicric dysplasia 5
                  Geleophysic Dysplasia 3
                    Geleophysic Dysplasia 1 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.