rieger syndrome 2

Preferred Label : rieger syndrome 2;

CISMeF synonym : syndrome de Rieger, type 2; syndrome d'Axenfeld-Rieger, type 2;

CISMeF acronym : RGS2;

MeSH synonym : rieger syndrome, type 2; rieger syndrome type 2; Axenfeld-Rieger syndrome type 2; Axenfeld-Rieger syndrome, type 2;

Details

Origin ID

C535680;

UMLS CUI

C1832229;

Automatic exact mappings (from CISMeF team)
- RGS2 Gene [NCIt concept]
- Regulator of G-Protein Signaling 2 [NCIt concept]
- Regulator of g protein signaling 2 [OMIM gene]
Currated CISMeF NLP mapping
- Axenfeld-Rieger syndrome type 2 [DO Concept]
- Axenfeld-rieger syndrome, type 2 [OMIM Phenotype]
MeSH term(s) associated for indexing
- anterior eye segment [MeSH Descriptor]
- eye abnormalities [MeSH Descriptor]
Record concept(s)
- Rieger syndrome 2 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Axenfeld-Rieger syndrome type 2 [DO Concept]
- Axenfeld-rieger syndrome, type 2 [OMIM Phenotype]

Keyword's position in hierarchy(ies) :

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