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RGD uses the Human Disease Ontology (DO, 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:geleophysic dysplasia 1
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Accession:DOID:0111725 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
For additional species annotation, visit the Alliance of Genome Resources.

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geleophysic dysplasia 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamtsl2 ADAMTS-like 2 ISO ClinVar Annotator: match by OMIM:231050
ClinVar Annotator: match by term: Geleophysic dysplasia 1
PMID:18677313, PMID:21415077, PMID:24014090, PMID:25741868, PMID:28492532, PMID:30195254 NCBI chr 3:5,624,473...5,654,890
Ensembl chr 3:5,624,506...5,654,910
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16096
    Pathological Conditions, Signs and Symptoms 8720
      Pathologic Processes 6125
        Growth Disorders 321
          geleophysic dysplasia 3
            geleophysic dysplasia 1 1
Path 2
Term Annotations click to browse term
  disease 16096
    disease of anatomical entity 15346
      musculoskeletal system disease 5713
        connective tissue disease 4072
          bone disease 3527
            bone development disease 1330
              osteochondrodysplasia 435
                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.