Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
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Preferred Name

APERT SYNDROME
Synonyms

APERT-CROUZON DISEASE
ID

http://purl.bioontology.org/ontology/OMIM/101200
altLabel

APERT-CROUZON DISEASE

ACROCEPHALOSYNDACTYLY, TYPE I

VOGT CEPHALODACTYLY

ACS I

ACS II

ACROCEPHALOSYNDACTYLY, TYPE II

ACS1
cui

C1863389

C1863391

C0001193
Gene Locus

10q26
Gene Symbol

TK14

JWS

BEK

CFD1

FGFR2

BBDS
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU009017

http://purl.bioontology.org/ontology/OMIM/MTHU000511

http://purl.bioontology.org/ontology/OMIM/MTHU019817

http://purl.bioontology.org/ontology/OMIM/MTHU024444

http://purl.bioontology.org/ontology/OMIM/MTHU002514

http://purl.bioontology.org/ontology/OMIM/MTHU019814

http://purl.bioontology.org/ontology/OMIM/MTHU041141

http://purl.bioontology.org/ontology/OMIM/MTHU000061

http://purl.bioontology.org/ontology/OMIM/MTHU001174

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

http://purl.bioontology.org/ontology/OMIM/MTHU007210

http://purl.bioontology.org/ontology/OMIM/MTHU005790

http://purl.bioontology.org/ontology/OMIM/MTHU019802

http://purl.bioontology.org/ontology/OMIM/MTHU019803

http://purl.bioontology.org/ontology/OMIM/MTHU041139

http://purl.bioontology.org/ontology/OMIM/MTHU017073

http://purl.bioontology.org/ontology/OMIM/MTHU011564

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

http://purl.bioontology.org/ontology/OMIM/MTHU036355

http://purl.bioontology.org/ontology/OMIM/MTHU001601

http://purl.bioontology.org/ontology/OMIM/MTHU001061

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU008770

http://purl.bioontology.org/ontology/OMIM/MTHU024439

http://purl.bioontology.org/ontology/OMIM/MTHU024437

http://purl.bioontology.org/ontology/OMIM/MTHU036353

http://purl.bioontology.org/ontology/OMIM/MTHU024436

http://purl.bioontology.org/ontology/OMIM/MTHU001627

http://purl.bioontology.org/ontology/OMIM/MTHU019808

http://purl.bioontology.org/ontology/OMIM/MTHU000259

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

http://purl.bioontology.org/ontology/OMIM/MTHU019809

http://purl.bioontology.org/ontology/OMIM/MTHU001511

http://purl.bioontology.org/ontology/OMIM/MTHU000048

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

http://purl.bioontology.org/ontology/OMIM/MTHU019813

http://purl.bioontology.org/ontology/OMIM/MTHU001611

http://purl.bioontology.org/ontology/OMIM/MTHU019810

http://purl.bioontology.org/ontology/OMIM/MTHU019811

http://purl.bioontology.org/ontology/OMIM/MTHU024441

http://purl.bioontology.org/ontology/OMIM/MTHU004672

http://purl.bioontology.org/ontology/OMIM/MTHU019806

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

http://purl.bioontology.org/ontology/OMIM/MTHU009125

http://purl.bioontology.org/ontology/OMIM/MTHU004088

http://purl.bioontology.org/ontology/OMIM/MTHU012611

http://purl.bioontology.org/ontology/OMIM/MTHU036338

http://purl.bioontology.org/ontology/OMIM/MTHU000051

http://purl.bioontology.org/ontology/OMIM/MTHU002185

http://purl.bioontology.org/ontology/OMIM/MTHU000066

http://purl.bioontology.org/ontology/OMIM/MTHU013648

http://purl.bioontology.org/ontology/OMIM/MTHU041140

http://purl.bioontology.org/ontology/OMIM/MTHU000257

http://purl.bioontology.org/ontology/OMIM/MTHU024440

http://purl.bioontology.org/ontology/OMIM/MTHU014444

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

http://purl.bioontology.org/ontology/OMIM/MTHU004934
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

101200
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

APERT SYNDROME
Scope Statement

Caused by mutation in the fibroblast growth factor receptor-2 gene (FGFR2, 176943.0010) [MOLECULAR BASIS]

Paternal age effect [MISCELLANEOUS]

De novo mutation in most cases [MISCELLANEOUS]
tui

T047

T019
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MSHFRE/D000168 MSHFRE CUI
http://purl.bioontology.org/ontology/MESH/C566327 MESH CUI
http://purl.bioontology.org/ontology/SNMI/D4-00C04 SNMI CUI
http://purl.bioontology.org/ontology/MESH/D000168 MESH CUI
http://purl.bioontology.org/ontology/MDRGER/10002943 MDRGER CUI
http://purl.bioontology.org/ontology/MEDDRA/10002943 MEDDRA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/205258009 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SCTSPA/205258009 SCTSPA CUI
http://purl.bioontology.org/ontology/MSHFRE/D000168 MSHFRE CUI
http://purl.bioontology.org/ontology/ICD10CM/Q87.0 ICD10CM CUI
http://purl.bioontology.org/ontology/MDRFRE/10002943 MDRFRE CUI
http://purl.bioontology.org/ontology/MESH/D000168 MESH CUI
http://purl.obolibrary.org/obo/MONDO_0007041 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0007041 MONDO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0001193 OCHV LOOM
http://purl.obolibrary.org/obo/DERMO_0000623 DERMO LOOM
http://www.owl-ontologies.com/NPOntology.owl#Apert_syndrome NATPRO LOOM
http://purl.obolibrary.org/obo/MONDO_0007041 DOVES LOOM
http://radlex.org/RID/RID35015 RADLEX LOOM
http://www.orpha.net/ORDO/Orphanet_87 ORDO LOOM
http://www.owl-ontologies.com/unnamed.owl#RID17906 DERMLEX LOOM
http://www.gamuts.net/entity#Apert_syndrome GAMUTS LOOM
http://identifiers.org/omim/101200 REXO LOOM
http://identifiers.org/omim/101200 GEXO LOOM
http://identifiers.org/omim/101200 RETO LOOM
http://purl.org/skeletome/bonedysplasia#Apert_syndrome BDO LOOM
http://www.co-ode.org/ontologies/galen#ApertSyndrome GALEN LOOM
http://www.limics.org/hrdo/rdfns#pat_id_261 HRDO LOOM
http://purl.obolibrary.org/obo/OMIM_101200 CCO LOOM