loading...| Preferred Name | acrocephalosyndactyly | |
| Synonyms |
acrocephalosyndactyly acrocephalosyndactylia ACS |
|
| 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 |
Orphanet:946 MedDRA:10000590 NCIT:C34348 UMLS:C1510455 ICD9:755.55 SCTID:268262006 MEDGEN:267602 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 |
acrocephalosyndactyly acrocephalosyndactylia ACS |
|
| IAO_0000233 | ||
| id |
MONDO:0019796 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#disease_grouping |
|
| label |
acrocephalosyndactyly |
|
| notation |
MONDO:0019796 |
|
| preferred label |
acrocephalosyndactyly |
|
| prefLabel |
acrocephalosyndactyly |
|
| skos_closeMatch | ||
| skos_exactMatch |
http://purl.obolibrary.org/obo/NCIT_C34348 http://identifiers.org/medgen/267602 http://purl.obolibrary.org/obo/DOID_12960 |
|
| subClassOf |