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DO Term : X-linked chondrodysplasia punctata 1 [DOID:0060292] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  A chondrodysplasia punctata that is characterized by maxillary hypoplasia, stippled chondrodystrophy, flat nasal tip and short columella, and that has_material_basis_in a mutation in the ARSE gene on chromosome Xp22.
  • synonyms:
  • OMIM:302950,
  • chondrodystrophia calcificans congenita,
  • ICD10CM:Q77.3,
  • MESH:C580533,
  • ORDO:35173,
  • 302950
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Disease

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Ontology

Ontology Term --> All ancestors

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