RUBINSTEIN-TAYBI SYNDROME 1

BROAD THUMBS AND GREAT TOES, CHARACTERISTIC FACIES, AND MENTAL RETARDATION

http://purl.bioontology.org/ontology/OMIM/180849

BROAD THUMBS AND GREAT TOES, CHARACTERISTIC FACIES, AND MENTAL RETARDATION

RUBINSTEIN SYNDROME

RSTS

BROAD THUMB-HALLUX SYNDROME

RSTS1

C4551859

C0035934

16p13.3

MKHK1

CBP

CREBBP

RSTS1

http://purl.bioontology.org/ontology/OMIM/MTHU015765

http://purl.bioontology.org/ontology/OMIM/MTHU015752

http://purl.bioontology.org/ontology/OMIM/MTHU003093

http://purl.bioontology.org/ontology/OMIM/MTHU015762

http://purl.bioontology.org/ontology/OMIM/MTHU015753

http://purl.bioontology.org/ontology/OMIM/MTHU020953

http://purl.bioontology.org/ontology/OMIM/MTHU002993

http://purl.bioontology.org/ontology/OMIM/MTHU000068

http://purl.bioontology.org/ontology/OMIM/MTHU020954

http://purl.bioontology.org/ontology/OMIM/MTHU002155

http://purl.bioontology.org/ontology/OMIM/MTHU036340

http://purl.bioontology.org/ontology/OMIM/MTHU000581

http://purl.bioontology.org/ontology/OMIM/MTHU036568

http://purl.bioontology.org/ontology/OMIM/MTHU000197

http://purl.bioontology.org/ontology/OMIM/MTHU014897

http://purl.bioontology.org/ontology/OMIM/MTHU007695

http://purl.bioontology.org/ontology/OMIM/MTHU000576

http://purl.bioontology.org/ontology/OMIM/MTHU004213

http://purl.bioontology.org/ontology/OMIM/MTHU004639

http://purl.bioontology.org/ontology/OMIM/MTHU036369

http://purl.bioontology.org/ontology/OMIM/MTHU000848

http://purl.bioontology.org/ontology/OMIM/MTHU002392

http://purl.bioontology.org/ontology/OMIM/MTHU020955

http://purl.bioontology.org/ontology/OMIM/MTHU015751

http://purl.bioontology.org/ontology/OMIM/MTHU011176

http://purl.bioontology.org/ontology/OMIM/MTHU001158

http://purl.bioontology.org/ontology/OMIM/MTHU000566

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

http://purl.bioontology.org/ontology/OMIM/MTHU036357

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

http://purl.bioontology.org/ontology/OMIM/MTHU001907

http://purl.bioontology.org/ontology/OMIM/MTHU015756

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU026402

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

http://purl.bioontology.org/ontology/OMIM/MTHU004643

http://purl.bioontology.org/ontology/OMIM/MTHU015757

http://purl.bioontology.org/ontology/OMIM/MTHU004811

http://purl.bioontology.org/ontology/OMIM/MTHU001172

http://purl.bioontology.org/ontology/OMIM/MTHU015758

http://purl.bioontology.org/ontology/OMIM/MTHU005751

http://purl.bioontology.org/ontology/OMIM/MTHU015766

http://purl.bioontology.org/ontology/OMIM/MTHU010294

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

http://purl.bioontology.org/ontology/OMIM/MTHU015767

http://purl.bioontology.org/ontology/OMIM/MTHU036337

http://purl.bioontology.org/ontology/OMIM/MTHU037134

http://purl.bioontology.org/ontology/OMIM/MTHU036365

http://purl.bioontology.org/ontology/OMIM/MTHU015771

http://purl.bioontology.org/ontology/OMIM/MTHU011809

http://purl.bioontology.org/ontology/OMIM/MTHU000036

http://purl.bioontology.org/ontology/OMIM/MTHU015759

http://purl.bioontology.org/ontology/OMIM/MTHU004110

http://purl.bioontology.org/ontology/OMIM/MTHU037136

http://purl.bioontology.org/ontology/OMIM/MTHU020950

http://purl.bioontology.org/ontology/OMIM/MTHU000394

http://purl.bioontology.org/ontology/OMIM/MTHU015763

http://purl.bioontology.org/ontology/OMIM/MTHU031458

http://purl.bioontology.org/ontology/OMIM/MTHU012071

http://purl.bioontology.org/ontology/OMIM/MTHU020948

http://purl.bioontology.org/ontology/OMIM/MTHU000155

http://purl.bioontology.org/ontology/OMIM/MTHU000249

http://purl.bioontology.org/ontology/OMIM/MTHU015114

http://purl.bioontology.org/ontology/OMIM/MTHU020952

http://purl.bioontology.org/ontology/OMIM/MTHU011787

http://purl.bioontology.org/ontology/OMIM/MTHU000509

http://purl.bioontology.org/ontology/OMIM/MTHU036913

http://purl.bioontology.org/ontology/OMIM/MTHU026401

http://purl.bioontology.org/ontology/OMIM/MTHU015750

http://purl.bioontology.org/ontology/OMIM/MTHU000324

http://purl.bioontology.org/ontology/OMIM/MTHU001787

http://purl.bioontology.org/ontology/OMIM/MTHU015764

http://purl.bioontology.org/ontology/OMIM/MTHU007730

http://purl.bioontology.org/ontology/OMIM/MTHU000604

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

http://purl.bioontology.org/ontology/OMIM/MTHU051970

http://purl.bioontology.org/ontology/OMIM/MTHU005725

http://purl.bioontology.org/ontology/OMIM/MTHU000140

http://purl.bioontology.org/ontology/OMIM/MTHU007674

http://purl.bioontology.org/ontology/OMIM/MTHU000145

http://purl.bioontology.org/ontology/OMIM/MTHU015770

http://purl.bioontology.org/ontology/OMIM/MTHU015760

http://purl.bioontology.org/ontology/OMIM/MTHU036521

http://purl.bioontology.org/ontology/OMIM/MTHU000242

http://purl.bioontology.org/ontology/OMIM/MTHU000094

http://purl.bioontology.org/ontology/OMIM/MTHU012405

Phenotype description, molecular basis known.

180850

180849

3

pound

RUBINSTEIN-TAYBI SYNDROME 1

Incidence of 1 in 100,000 to 125,000 at birth [MISCELLANEOUS]

Truncating mutations in CREBBP found in 10% of patients [MISCELLANEOUS]

Variable severity [MISCELLANEOUS]

Caused by mutation in the CREB-binding protein gene (CREBBP, 600140.0001) [MOLECULAR BASIS]

De novo mutation in most cases [MISCELLANEOUS]

T047