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DO Term : distal arthrogryposis type 2A [DOID:0111605] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A Freeman-Sheldon syndrome that has_material_basis_in heterozygous mutation in the MYH3 gene on chromosome 17p13.1.
  • synonyms:
  • distal arthrogryposis type 2A (Freeman-Sheldon),
  • DA2A,
  • OMIM:193700,
  • 193700
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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