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DO Term : lethal congenital contracture syndrome 3 [DOID:0060653] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A lethal congenital contracture syndrome that has_material_basis_in homozygous mutation in the PIP5K1C gene on chromosome 19p13.
  • synonyms:
  • ORDO:137783,
  • Israeli Bedouin type B multiple contracture syndrome,
  • OMIM:611369,
  • 611369
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents