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DO Term : Axenfeld-Rieger syndrome type 1 [DOID:0110120] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  An Axenfeld-Rieger syndrome that has_material_basis_in heterozygous mutation in the homeobox transcription factor gene PITX2 on chromosome 4q25.
  • synonyms:
  • OMIM:180500,
  • Rieger syndrome type 1,
  • 180500,
  • ICD10CM:Q13.8,
  • RIEG1
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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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