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DO Term : cranioectodermal dysplasia 1 [DOID:0080803] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A cranioectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the IFT122 gene on chromosome 3q21.
  • synonyms:
  • 218330,
  • OMIM:218330
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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