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DOID:0111375 - fetal akinesia deformation sequence syndrome
Disease Ontology Definition:A syndrome characterized by decreased fetal movements, intrauterine growth restriction, joint contractures, and developmental anomalies, including lung hypoplasia, cleft palate, and cryptorchidism that often has_material_basis_in mutation in a gene associated with the neuromuscular junction.
Synonyms: arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome, FADS, fetal akinesia sequence, foetal akinesia deformation sequence syndrome, foetal akinesia sequence, Pena-Shokeir syndrome type 1
Xenbase Genes
:
musk,
rapsn,
dok7
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
monogenic disease (is_a),
syndrome (is_a)