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Mondo Disease Ontology
Last uploaded:
November 25, 2024
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| Preferred Name | acrocephalosyndactyly | |
| Synonyms |
acrocephalosyndactylia ACS acrocephalosyndactyly |
|
| Definitions |
Acrocephalosyndactyly (ACS) syndromes represent a group of inherited congenital malformation disorders characterized by craniosynostosis and fusion or webbing of the fingers or toes, often with other associated manifestations. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0019796 |
|
| database_cross_reference |
UMLS:C1510455 SCTID:268262006 MEDGEN:267602 Orphanet:946 NCIT:C34348 MedDRA:10000590 ICD9:755.55 DOID:12960
|
|
| definition |
Acrocephalosyndactyly (ACS) syndromes represent a group of inherited congenital malformation disorders characterized by craniosynostosis and fusion or webbing of the fingers or toes, often with other associated manifestations.
|
|
| has_exact_synonym |
acrocephalosyndactylia ACS acrocephalosyndactyly
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|
| IAO_0000233 | ||
| id |
MONDO:0019796
|
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| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#disease_grouping |
|
| label |
acrocephalosyndactyly
|
|
| notation |
MONDO:0019796
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|
| prefLabel |
acrocephalosyndactyly
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| skos_closeMatch | ||
| skos_exactMatch |
http://purl.obolibrary.org/obo/NCIT_C34348 http://identifiers.org/medgen/267602 http://purl.obolibrary.org/obo/DOID_12960 |
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| treeView | ||
| subClassOf |
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