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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 autosomal recessive disease

is_a physical disorder

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

disease has location some skeletal joint

disease has basis in some Abnormality of prenatal development or birth

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