loading...| Preferred Name |
apert syndrome |
|
| Synonyms |
type I Acrocephalosyndactyly ACS1 acrocephalosyndactyly type I apert syndrome acrocephalosyndactyly type 1 ACS 2 syndactylic oxycephaly acrocephalosyndactyly, type 2 Vogt Cephalodactyly apert-Crouzon disease acrocephalo-syndactyly type 1 acrocephalosyndactyly, type 1 ACS 1 |
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| Definitions |
Apert syndrome (AS) is a frequent form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0007041 |
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| has_exact_synonym |
type I Acrocephalosyndactyly ACS1 acrocephalosyndactyly type I apert syndrome acrocephalosyndactyly type 1 |
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| has_related_synonym |
ACS 2 syndactylic oxycephaly acrocephalosyndactyly, type 2 Vogt Cephalodactyly apert-Crouzon disease acrocephalo-syndactyly type 1 acrocephalosyndactyly, type 1 ACS 1 |
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| IAO_0000233 | ||
| label |
apert syndrome |
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| prefixIRI |
MONDO:0007041 |
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| prefLabel |
apert syndrome |
|
| textual definition |
Apert syndrome (AS) is a frequent form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly. |
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| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0019796 http://purl.obolibrary.org/obo/MONDO_0018187 |