lethal congenital contracture syndrome

lethal congenital contracture syndrome

http://purl.obolibrary.org/obo/DOID_0060558

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. [ http://purl.obolibrary.org/obo/ECO_0007645 url:https://www.ncbi.nlm.nih.gov/pubmed/22610851 ]

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database cross reference

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

Subsets

DO_rare_slim

has obo namespace

disease_ontology

DOID:0060558

Term relations

Subclass of:

autosomal recessive disease
syndrome
physical disorder
has material basis in some autosomal recessive inheritance
disease has basis in some Abnormality of prenatal development or birth
disease has location some skeletal joint