Details of Disease

General Information of Disease (ID: DISEED6L)

Disease Name Ischio-vertebral syndrome
Synonyms ischio-vertebral dysplasia; ischio-spinal dysostosis
Definition
Ischio-vertebral syndrome is a very rare, poorly-defined bone disease characterized by ischial aplasia or hypoplasia, vertebral anomalies (vertebral malsegmentation, kyphoscoliosis), and in some patients, non-distinctive facial dysmorphism.
Disease Hierarchy
DIS6SVEE: Syndromic disease
DISYKSRF: Genetic disease
DISHPNVX: Dysplasia
DISEED6L: Ischio-vertebral syndrome
Disease Identifiers
MONDO ID
MONDO_0019413
UMLS CUI
C4274732
MedGen ID
903166
Orphanet ID
85200
SNOMED CT ID
715654001

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
BMPER OTBYON4H Supportive Autosomal recessive [1]
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References

1 Extending the phenotype of BMPER-related skeletal dysplasias to ischiospinal dysostosis. Orphanet J Rare Dis. 2016 Jan 4;11:1. doi: 10.1186/s13023-015-0380-0.