Details of Disease

General Information of Disease (ID: DIS1WMWE)

Disease Name Geleophysic dysplasia 3
Synonyms GELEOPHYSIC dysplasia 3; GPHYSD3
Disease Hierarchy
DISZOO1G: Geleophysic dysplasia
DIS1WMWE: Geleophysic dysplasia 3
Disease Identifiers
MONDO ID
MONDO_0054722
UMLS CUI
C4540511
OMIM ID
617809
MedGen ID
1615724

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
LTBP3 OTME98V7 Strong Autosomal dominant [1]
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References

1 Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia. J Med Genet. 2016 Jul;53(7):457-64. doi: 10.1136/jmedgenet-2015-103647. Epub 2016 Apr 11.