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DO Term : Ehlers-Danlos syndrome arthrochalasia type 1 [DOID:0080727] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  An Ehlers-Danlos syndrome that is characterized by hypermobility in infants with dislocations of both hips at birth and has_material_basis_in heterozygous mutation in the COL1A1 gene on chromosome 17q21.
  • synonyms:
  • OMIM:130060,
  • 130060
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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





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