APERT SYNDROME

ACROCEPHALOSYNDACTYLY, TYPE II

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

ACROCEPHALOSYNDACTYLY, TYPE II

ACS II

ACS1

ACS I

VOGT CEPHALODACTYLY

ACROCEPHALOSYNDACTYLY, TYPE I

APERT-CROUZON DISEASE

C0001193

C1863389

C1863391

10q26

TK14

FGFR2

BEK

BBDS

JWS

CFD1

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Phenotype description, molecular basis known.

101200

3

pound

APERT SYNDROME

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

De novo mutation in most cases [MISCELLANEOUS]

Paternal age effect [MISCELLANEOUS]

T019

T047