Details of Disease

General Information of Disease (ID: DIS1Z0LO)

Disease Name Calvarial doughnut lesions-bone fragility syndrome
Synonyms doughnut lesions of skull, familial; calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia; familial doughnut lesions of skull
Definition This syndrome is characterized by multiple doughnut-shaped hyperostotic or osteosclerotic lesions of the calvaria.
Disease Hierarchy
DISEOED3: Osteogenesis imperfecta and a reduction of bone mineral density.
DIS1Z0LO: Calvarial doughnut lesions-bone fragility syndrome
Disease Identifiers
MONDO ID
MONDO_0007470
MESH ID
C565089
UMLS CUI
C1852022
OMIM ID
126550
MedGen ID
377572
Orphanet ID
85192
SNOMED CT ID
720598005

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
SGMS2 OT3NHO99 Strong Autosomal dominant [1]
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References

1 Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2. JCI Insight. 2019 Apr 4;4(7):e126180. doi: 10.1172/jci.insight.126180. eCollection 2019 Apr 4.