Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
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Preferred Name

PFEIFFER SYNDROME
Synonyms

ACS5
ID

http://purl.bioontology.org/ontology/OMIM/101600
altLabel

ACS5

ACS V

ACROCEPHALOSYNDACTYLY, TYPE V

CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA

NOACK SYNDROME
cui

C0220658
Gene Locus

10q26
Gene Symbol

TK14

JWS

BEK

CFD1

FGFR2

BBDS
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU019777

http://purl.bioontology.org/ontology/OMIM/MTHU019778

http://purl.bioontology.org/ontology/OMIM/MTHU000263

http://purl.bioontology.org/ontology/OMIM/MTHU002014

http://purl.bioontology.org/ontology/OMIM/MTHU012282

http://purl.bioontology.org/ontology/OMIM/MTHU019773

http://purl.bioontology.org/ontology/OMIM/MTHU019776

http://purl.bioontology.org/ontology/OMIM/MTHU013660

http://purl.bioontology.org/ontology/OMIM/MTHU002499

http://purl.bioontology.org/ontology/OMIM/MTHU002599

http://purl.bioontology.org/ontology/OMIM/MTHU001542

http://purl.bioontology.org/ontology/OMIM/MTHU000512

http://purl.bioontology.org/ontology/OMIM/MTHU017720

http://purl.bioontology.org/ontology/OMIM/MTHU003865

http://purl.bioontology.org/ontology/OMIM/MTHU000579

http://purl.bioontology.org/ontology/OMIM/MTHU014446

http://purl.bioontology.org/ontology/OMIM/MTHU007642

http://purl.bioontology.org/ontology/OMIM/MTHU000389

http://purl.bioontology.org/ontology/OMIM/MTHU066984

http://purl.bioontology.org/ontology/OMIM/MTHU019779

http://purl.bioontology.org/ontology/OMIM/MTHU019774

http://purl.bioontology.org/ontology/OMIM/MTHU005346

http://purl.bioontology.org/ontology/OMIM/MTHU019775

http://purl.bioontology.org/ontology/OMIM/MTHU036356

http://purl.bioontology.org/ontology/OMIM/MTHU001173
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

101600
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

PFEIFFER SYNDROME
Scope Statement

Caused by mutation in the fibroblast growth factor receptor-1 gene (FGFR1, 136350.0001) [MOLECULAR BASIS]

Type 3: craniosynostosis, early demise, sporadic [MISCELLANEOUS]

Caused by mutation in the fibroblast growth factor receptor-2 gene (FGFR2, 176943.0012) [MOLECULAR BASIS]

Type 2: cloverleaf skull, elbow ankylosis, early demise, sporadic [MISCELLANEOUS]

Three subtypes of Pfeiffer syndrome have been described - Type 1: 'mild' autosomal dominant [MISCELLANEOUS]

De novo mutation in most cases [MISCELLANEOUS]
tui

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/SNMI/D4-00C02 SNMI CUI
http://purl.bioontology.org/ontology/RCD/X50Hz RCD CUI
http://purl.bioontology.org/ontology/SCTSPA/70410008 SCTSPA CUI
http://purl.bioontology.org/ontology/MDRGER/10082289 MDRGER CUI
http://purl.bioontology.org/ontology/MDRFRE/10082289 MDRFRE CUI
http://purl.bioontology.org/ontology/SNOMEDCT/70410008 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MSHFRE/D000168 MSHFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10082289 MEDDRA CUI
http://purl.bioontology.org/ontology/MESH/D000168 MESH CUI
http://purl.obolibrary.org/obo/MONDO_0007043 EFO LOOM
http://purl.obolibrary.org/obo/DOID_14705 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0007043 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0007043 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0007043 HSPO LOOM
http://purl.obolibrary.org/obo/MONDO_0007043 DOVES LOOM
http://www.gamuts.net/entity#Pfeiffer_syndrome GAMUTS LOOM
http://identifiers.org/omim/101600 REXO LOOM
http://identifiers.org/omim/101600 GEXO LOOM
http://identifiers.org/omim/101600 RETO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0265303 OCHV LOOM
http://purl.bioontology.org/ontology/SNMI/D4-00C02 SNMI LOOM
http://www.limics.org/hrdo/rdfns#pat_id_234 HRDO LOOM
http://id.nlm.nih.gov/mesh/D000168 MDM LOOM
http://purl.obolibrary.org/obo/DOID_14705 DTO LOOM
http://purl.obolibrary.org/obo/DOID_14705 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_14705 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_14705 FNS-H LOOM
http://www.orpha.net/ORDO/Orphanet_710 ORDO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#25882 OCHV LOOM
http://purl.obolibrary.org/obo/OMIM_101600 CCO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10082289 MEDDRA LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_14705 NATPRO LOOM