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DO Term : X-linked chondrodysplasia punctata 2 [DOID:0080352] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  A chondrodysplasia puncata that has_material_basis_in mutation in the gene encoding delta(8)-delta(7) sterol isomerase emopamil-binding protein on chromosome Xp11.
  • synonyms:
  • OMIM:302960,
  • 302960,
  • Happle syndrome,
  • Conradi-Hunermann Syndrome
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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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