lethal congenital contracture syndrome

Term ID

DOID:0060558

Synonyms

Definition

A syndrome characterized by congenital nonprogressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. https://www.ncbi.nlm.nih.gov/pubmed/22610851

References

GARD:12643
ICD10CM:Q68.8
MIM:PS253310
ORDO:294965

Ontology

Human Disease ( DOID:0060558 )

Relationships

is a type of: autosomal recessive disease physical disorder syndrome

autosomal recessive disease physical disorder syndrome Show first 5 Terms
has subtype: lethal congenital contracture syndrome 1 lethal congenital contracture syndrome 2 lethal congenital contracture syndrome 3 lethal congenital contracture syndrome 4

lethal congenital contracture syndrome 1 lethal congenital contracture syndrome 2 lethal congenital contracture syndrome 3 lethal congenital contracture syndrome 4 Show first 5 Terms

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Alliance (1)

Genes Involved

Zebrafish Models