loading...| Preferred Name |
Axenfeld-Rieger Syndrome, Type 3 |
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| Synonyms |
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| Definitions |
An autosomal dominant disorder of morphogenesis that results in abnormal development of the anterior segment of the eye, and results in blindness from glaucoma in approximately 50% of affected individuals. Features include posterior corneal embryotoxon, prominent Schwalbe line and iris adhesion to the Schwalbe line, hypertelorism, hypodontia, sensorineural deafness, redundant periumbilical skin, and cardiovascular defects such as patent ductus arteriosus and atrial septal defect. When associated with tooth anomalies, the disorder is known as Rieger syndrome. |
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| ID |
http://purl.obolibrary.org/obo/HIO_0000031 |
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| description |
An autosomal dominant disorder of morphogenesis that results in abnormal development of the anterior segment of the eye, and results in blindness from glaucoma in approximately 50% of affected individuals. Features include posterior corneal embryotoxon, prominent Schwalbe line and iris adhesion to the Schwalbe line, hypertelorism, hypodontia, sensorineural deafness, redundant periumbilical skin, and cardiovascular defects such as patent ductus arteriosus and atrial septal defect. When associated with tooth anomalies, the disorder is known as Rieger syndrome. |
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| created_by |
Jade Hotchkiss |
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| creation_date |
2019-05-27T19:24:49.818667Z |
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| curator note |
The link to OMIM does not work, but it is sited by other ontologies too. |
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| database cross reference |
OMIM:602482 |
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| definition source | ||
| existence in other ontologies |
Sufficient |
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| gene carrying contributing genetic variation | ||
| hasExactSynonym |
Anterior Chamber Cleavage Syndrome Rieger Syndrome Type 3 RIEG3 |
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| label |
Axenfeld-Rieger Syndrome, Type 3 |
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| prefixIRI |
HIO:0000031 |
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| prefLabel |
Axenfeld-Rieger Syndrome, Type 3 |
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| subClassOf |