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DO Term : fetal akinesia deformation sequence syndrome [DOID:0111375] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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:
  • foetal akinesia deformation sequence syndrome,
  • PS208150,
  • arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome,
  • FADS,
  • fetal akinesia sequence,
  • Pena-Shokeir syndrome type 1,
  • OMIM:PS208150,
  • GARD:9634,
  • SNOMEDCT_US_2023_03_01:401138005,
  • ORDO:994,
  • foetal akinesia sequence,
  • NCI:C129071,
  • MESH:C536647,
  • UMLS_CUI:C1276035
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Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents