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DO Term : Prieto syndrome [DOID:0060805] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A syndromic X-linked intellectual disability characterized by intellectual disability, facial dysmorphism, patella luxation, clinodactyly, subcortical cerebral atrophy, and abnormal growth of the teeth that has_material_basis_in hemizygous mutation in the WNK3 gene on chromosome Xp11.
  • synonyms:
  • 309610,
  • Prieto-Badia-Mulas syndrome,
  • X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome,
  • ORDO:2958,
  • OMIM:309610
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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