Axenfeld-rieger syndrome, type 3

Preferred Label : Axenfeld-rieger syndrome, type 3;

Symbol : RIEG3;

CISMeF acronym : RIEG3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Axenfeld-rieger anomaly with cardiac defects and/or sensorineural hearing loss; Anterior chamber cleavage syndrome; Rieger syndrome, type 3;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the forkhead box C1 gene (FOXC1, 601090.0001);

Prefixed ID : #602482;

Détails

Origin ID

602482;

UMLS CUI

C2678503;

Automatic exact mappings (from CISMeF team)
- Axenfeld-Rieger syndrome [MeSH Supplementary Concept]
- FOXC1 wt Allele [NCIt concept]
Broader ORDO disease(s)
- Rieger anomaly [ORDO Disease]
Currated CISMeF NLP mapping
- Axenfeld-Rieger anomaly with cardiac defects and sensorineural hearing loss [MeSH concept]
- Axenfeld-Rieger anomaly with cardiac defects and sensorineural hearing loss [MeSH Supplementary Concept]
- Axenfeld-Rieger syndrome type 3 [DO Concept]
- Axenfeld-Rieger syndrome, type 3 [MeSH concept]
DO Cross reference
- Axenfeld-Rieger syndrome type 3 [DO Concept]
Genes related to phenotype
- Forkhead box c1 [OMIM gene]
HPO term(s)
- Atrial septal defect [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cerebellar vermis hypoplasia [HPO term]
- Concave nasal ridge [HPO term]
- Ectopia pupillae [HPO term]
- Glaucoma [HPO term]
- Heterogeneous [HPO term]
- Hypertelorism [HPO term]
- Hypodontia [HPO term]
- Hypoplasia of the iris [HPO term]
- Malar flattening [HPO term]
- Microdontia [HPO term]
- Midface retrusion [HPO term]
- Patent ductus arteriosus [HPO term]
- Posterior embryotoxon [HPO term]
- Prominent eyes [HPO term]
- Proptosis [HPO term]
- Sensorineural hearing impairment [HPO term]
ORDO concept(s)
- Axenfeld anomaly [ORDO Disease]
- Axenfeld-Rieger syndrome [ORDO Disease]
- Rieger anomaly [ORDO Disease]
See also inter- (CISMeF)
- Anterior chamber cleavage syndrome [MedDRA Preferred Term]
- Anterior chamber cleavage syndrome (disorder) [Inactive SNOMED CT concept]
- Anterior segment mesenchymal dysgenesis [MeSH concept]
- Axenfeld anomaly [Disease (Nov.)]
- Rieger syndrome [Disease (Nov.)]
- anterior chamber cleavage syndrome [SNOMED Notion]
- anterior segment mesenchymal dysgenesis [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Axenfeld-Rieger syndrome type 3 [DO Concept]
- Axenfeld-Rieger syndrome, type 3 [MeSH concept]
Validated automatic mappings to NTBT
- anterior chamber cleavage syndrome [Disease (Nov.)]

Position du mot-clé dans l'(les) arborescence(s) :

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