loading...| Preferred Name | Pfeiffer syndrome | |
| Synonyms |
Pfeiffer type acrocephalosyndactyly acrocephalosyndactyly, type 5 Noack syndrome craniofacial-skeletal-Dermatologic dysplasia ACS 5 type V Acrocephalosyndactyly Pfeiffer syndrome acrocephalosyndactyly type V acrocephalosyndactylia type V acrocephalosyndactyly type 5 ACS5 |
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| 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 |
SCTID:70410008 OMIM:101600 Orphanet:710 icd11.foundation:1075159878 MESH:D000168 NCIT:C99100 MEDGEN:67390 UMLS:C0220658 NANDO:2200976 NANDO:1200668 DOID:14705 GARD:7380 NORD:1572 |
|
| 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 |
type V Acrocephalosyndactyly Pfeiffer syndrome acrocephalosyndactyly type V acrocephalosyndactylia type V acrocephalosyndactyly type 5 ACS5 |
|
| has_related_synonym |
Pfeiffer type acrocephalosyndactyly acrocephalosyndactyly, type 5 Noack syndrome craniofacial-skeletal-Dermatologic dysplasia ACS 5 |
|
| IAO_0000233 | ||
| id |
MONDO:0007043 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#clingen 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#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_malformation_syndrome http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder |
|
| label |
Pfeiffer syndrome |
|
| notation |
MONDO:0007043 |
|
| preferred label |
Pfeiffer syndrome |
|
| prefLabel |
Pfeiffer syndrome |
|
| see also |
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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| subClassOf | ||
| excluded_subClassOf |