JSON

Pfeiffer syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0007043

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. [ Orphanet:710 ]

Synonyms: Pfeiffer syndrome ACS5 type V Acrocephalosyndactyly acrocephalosyndactyly type 5 acrocephalosyndactylia type V acrocephalosyndactyly type V

This is just here as a test because I lose it

Term information

database cross reference
  • OMIM:101600 (Orphanet:710/e)
  • Orphanet:710 (OMIM:101600)
  • NCIT:C99100 (MONDO:equivalentTo)
  • DOID:14705 (MONDO:equivalentTo)
  • NORD:1572 (MONDO:NORD)
  • SCTID:70410008 (MONDO:equivalentTo)
  • MESH:D000168 (MONDO:directSiblingOf)
  • UMLS:C0220658 (Orphanet:710)
  • GARD:7380 (Orphanet:710)
Subsets

gard_rare, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare, clingen

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4948

exactMatch

http://purl.obolibrary.org/obo/NCIT_C99100

https://omim.org/entry/101600

http://www.orpha.net/ORDO/Orphanet_710

http://purl.obolibrary.org/obo/DOID_14705

http://identifiers.org/snomedct/70410008

http://linkedlifedata.com/resource/umls/id/C0220658

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0015368

has related synonym

acrocephalosyndactyly, type 5

Noack syndrome

craniofacial-skeletal-Dermatologic dysplasia

ACS 5

Pfeiffer type acrocephalosyndactyly

id

MONDO:0007043

seeAlso

https://rarediseases.info.nih.gov/diseases/7380/pfeiffer-syndrome

https://search.clinicalgenome.org/kb/conditions/MONDO:0007043

Term relations