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Mondo Disease Ontology
| Preferred Name | Pfeiffer syndrome | |
| Synonyms |
Noack syndrome Pfeiffer type acrocephalosyndactyly acrocephalosyndactyly, type 5 craniofacial-skeletal-Dermatologic dysplasia ACS 5 acrocephalosyndactyly type V ACS5 type V Acrocephalosyndactyly acrocephalosyndactylia type V acrocephalosyndactyly type 5 Pfeiffer syndrome |
|
| Definitions |
Pfeiffer syndrome (PS) is a common form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations and various other associated manifestations. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0007043 |
|
| curated content resource |
https://search.clinicalgenome.org/kb/conditions/MONDO:0007043 |
|
| database_cross_reference |
Orphanet:710 SCTID:70410008 NCIT:C99100 NANDO:1200668 icd11.foundation:1075159878 MESH:D000168 MEDGEN:67390 NORD:1572 OMIM:101600 UMLS:C0220658 NANDO:2200976 DOID:14705 GARD:7380
|
|
| definition |
Pfeiffer syndrome (PS) is a common form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations and various other associated manifestations.
|
|
| has_exact_synonym |
acrocephalosyndactyly type V ACS5 type V Acrocephalosyndactyly acrocephalosyndactylia type V acrocephalosyndactyly type 5 Pfeiffer syndrome
|
|
| has_related_synonym |
Noack syndrome Pfeiffer type acrocephalosyndactyly acrocephalosyndactyly, type 5 craniofacial-skeletal-Dermatologic dysplasia ACS 5
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|
| IAO_0000233 | ||
| id |
MONDO:0007043
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|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#clingen http://purl.obolibrary.org/obo/mondo/mondo-simple#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_disorder http://purl.obolibrary.org/obo/mondo/mondo-simple#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_malformation_syndrome |
|
| label |
Pfeiffer syndrome
|
|
| notation |
MONDO:0007043
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|
| prefLabel |
Pfeiffer syndrome
|
|
| seeAlso |
https://rarediseases.info.nih.gov/diseases/7380/pfeiffer-syndrome |
|
| skos_exactMatch |
http://linkedlifedata.com/resource/umls/id/C0220658 http://purl.obolibrary.org/obo/DOID_14705 http://purl.obolibrary.org/obo/NCIT_C99100 http://purl.obolibrary.org/obo/Orphanet_710 http://identifiers.org/medgen/67390 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1075159878 |
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