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DO Term : distal arthrogryposis type 1C [DOID:0112190] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A distal arthrogryposis type 1 characterized by congenital contractures, scoliosis, and short stature that has_material_basis_in heterozygous or homozygous mutation in the MYLPF gene on chromosome 16p11.2.
  • synonyms:
  • OMIM:619110,
  • DA1C,
  • 619110
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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