Details of Disease

General Information of Disease (ID: DISI1AJK)

Disease Name Spondylometaphyseal dysplasia with corneal dystrophy
Synonyms SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY; SMDCD; spondylometaphyseal dysplasia with corneal dystrophy
Disease Hierarchy
DISYKSRF: Genetic disease
DISI1AJK: Spondylometaphyseal dysplasia with corneal dystrophy
Disease Identifiers
MONDO ID
MONDO_0030074
UMLS CUI
C5394555
OMIM ID
618961
MedGen ID
1714019
Orphanet ID
589435
SNOMED CT ID
1269226006

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
PLCB3 OT0OMDEM Limited Unknown [1]
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References

1 Defect in phosphoinositide signalling through a homozygous variant in PLCB3 causes a new form of spondylometaphyseal dysplasia with corneal dystrophy. J Med Genet. 2018 Feb;55(2):122-130. doi: 10.1136/jmedgenet-2017-104827. Epub 2017 Nov 9.