Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

RUBINSTEIN-TAYBI SYNDROME 1
Synonyms

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

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

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

RSTS1

BROAD THUMB-HALLUX SYNDROME

RUBINSTEIN SYNDROME
cui

C0035934
Gene Locus

16p13.3
Gene Symbol

CREBBP

RSTS1

CBP
Has manifestation

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

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

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

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

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

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU020958

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU000759

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

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

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

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

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

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU058286

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

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

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

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

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

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

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU054554

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU015772

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

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

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

Phenotype description, molecular basis known.
Moved from

180850
notation

180849
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

RUBINSTEIN-TAYBI SYNDROME 1
tui

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/ICD10CM/Q87.2 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://purl.bioontology.org/ontology/MESH/D012415 Medical Subject Headings CUI