lethal congenital contracture syndrome

Summary

DOID:0060558 - lethal congenital contracture syndrome

Disease Ontology 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.

Synonyms:

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: mybpc1, erbb3, gle1, pip5k1c

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0017436 - lethal congenital contracture syndrome

MONDO:0017436 - lethal congenital contracture syndrome

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), physical disorder (is_a), spinal disease (is_a), syndrome (is_a)