loading...| Preferred Name |
Apert syndrome |
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| Synonyms |
type I Acrocephalosyndactyly Apert syndrome ACS1 acrocephalosyndactyly type I 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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| closeMatch | ||
| database_cross_reference |
NCIT:C99099 OMIM:101200 SCTID:205258009 GARD:5833 MESH:D000168 Orphanet:87 MedDRA:10002943 NORD:793 UMLS:C0001193 |
|
| 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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| exactMatch |
http://linkedlifedata.com/resource/umls/id/C0001193 http://identifiers.org/mesh/D000168 http://purl.obolibrary.org/obo/Orphanet_87 |
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| has_exact_synonym |
type I Acrocephalosyndactyly Apert syndrome ACS1 acrocephalosyndactyly type I 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 | ||
| id |
MONDO:0007041 |
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| in_subset |
http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#nord_rare http://purl.obolibrary.org/obo/mondo#orphanet_rare http://purl.obolibrary.org/obo/mondo#gard_rare http://purl.obolibrary.org/obo/mondo#ordo_malformation_syndrome |
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| label |
Apert syndrome |
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| notation |
MONDO:0007041 |
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| prefLabel |
Apert syndrome |
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| excluded_subClassOf | ||
| subClassOf |