Details of Disease

General Information of Disease (ID: DIS4P7XS)

Disease Name Geleophysic dysplasia 1
Synonyms GPHYSD1; GELEOPHYSIC dysplasia 1; ADAMTSL2 geleophysic dysplasia; geleophysic dysplasia caused by mutation in ADAMTSL2; Geleophysic dysplasia type 1; geleophysic dysplasia 1
Definition Any geleophysic dysplasia in which the cause of the disease is a mutation in the ADAMTSL2 gene.
Disease Hierarchy
DISZOO1G: Geleophysic dysplasia
DIS4P7XS: Geleophysic dysplasia 1
Disease Identifiers
MONDO ID
MONDO_0009269
UMLS CUI
C3278147
OMIM ID
231050
MedGen ID
479777

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
ADAMTSL2 OTAXNV2U Strong Autosomal recessive [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.