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Metadata
ID DOID:0060558
Name lethal congenital contracture syndrome
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
Xrefs

GARD:12643

ICD10CM:Q68.8

MIM:PS253310

ORDO:294965

Subsets

DO_rare_slim

Parent Relationships

is_a syndrome

is_a physical disorder

is_a autosomal recessive disease

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