Rieger Syndrome Type 1

Preferred Label : Rieger Syndrome Type 1;

NCIt definition : A rare autosomal dominant syndrome linked to mutations in the PITX2 gene. It is characterized by abnormalities in the anterior chamber of the eye and underdevelopment of the teeth.;

Details

Origin ID

C75015;

UMLS CUI

C3714873;

CISMeF manual mappings
- Irido-trabecular dysgenesis (disorder) [SNOMED CT concept]
- Rieger eye malformation sequence (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Axenfeld-Rieger Syndrome, Type 1 [MeSH concept]
- Axenfeld-Rieger syndrome [ORDO Disease]
- Axenfeld-Rieger syndrome [MeSH concept]
- Axenfeld-Rieger syndrome [MeSH Supplementary Concept]
- Axenfeld-Rieger syndrome (disorder) [SNOMED CT concept]
- Axenfeld-Rieger syndrome type 1 [DO Concept]
- Axenfeld-rieger syndrome, type 1 [OMIM Phenotype]
- Rieger syndrome [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Axenfeld-rieger syndrome, type 1 [OMIM Phenotype]
disease_has_associated_gene
- PITX2 Gene [NCIt concept]
- PITX2 wt Allele [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- PITX2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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