FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Axenfeld-Rieger syndrome type 1 ID (Ontology) DOID:0110120 (Human Disease)
Definition An Axenfeld-Rieger syndrome that has_material_basis_in heterozygous mutation in the homeobox transcription factor gene PITX2 on chromosome 4q25.
Also Known As "RIEG1" ; "Rieger syndrome type 1"
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 Genes
 Axenfeld-Rieger syndrome type 1       1
 for disease ribbon | Axenfeld-Rieger syndrome type 1       1
 model of | Axenfeld-Rieger syndrome type 1       1
Spanning Tree (Parents/Children)
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autosomal dominant disease__
eye disease_________________|
                            Axenfeld-Rieger syndrome
                             |__Axenfeld-Rieger syndrome type 1  1 rec.
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Synonyms
  • "RIEG1" EXACT OMO:0003012
    "Rieger syndrome type 1" EXACT
Secondary IDs
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ICD10CM:Q13.8
MIM:180500