loading...| Preferred Name |
Axenfeld-Rieger syndrome |
|
| Synonyms |
Rieger syndrome |
|
| Definitions |
Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_782 |
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| alternative_term |
Rieger syndrome Axenfeld syndrome |
|
| definition |
Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=782 |
|
| has_age_of_onset |
Infancy Neonatal |
|
| has_inheritance |
Autosomal dominant |
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| hasDbXref |
OMIM:602482 OMIM:180500 ICD-10:Q13.8 UMLS:C3495488 OMIM:601499 MedDRA:10059255 MeSH:C535679 ICD-11:LD2F.1Y |
|
| label |
Axenfeld-Rieger syndrome |
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| notation |
ORPHA:782 |
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| part_of |
http://www.orpha.net/ORDO/Orphanet_95495 http://www.orpha.net/ORDO/Orphanet_98638 http://www.orpha.net/ORDO/Orphanet_117573 http://www.orpha.net/ORDO/Orphanet_102285 |
|
| prefixIRI |
ORDO:Orphanet_782 |
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| prefLabel |
Axenfeld-Rieger syndrome |
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| present_in |
Europe AND has_point_prevalence_average_value : 0.5 AND has_point_prevalence_range : 1-9 / 1 000 000 |
|
| treeView |
http://www.orpha.net/ORDO/Orphanet_95495 http://www.orpha.net/ORDO/Orphanet_98638 http://www.orpha.net/ORDO/Orphanet_117573 http://www.orpha.net/ORDO/Orphanet_102285 |
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| subClassOf |