Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
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Preferred Name

DIGEORGE SYNDROME
Synonyms

DIGEORGE SYNDROME CHROMOSOME REGION

THIRD AND FOURTH PHARYNGEAL POUCH SYNDROME

CHROMOSOME 22q11.2 DELETION SYNDROME

CATCH22

DGCR

TAKAO VCF SYNDROME

DGS

HYPOPLASIA OF THYMUS AND PARATHYROIDS
ID

http://purl.bioontology.org/ontology/OMIM/188400
altLabel

DIGEORGE SYNDROME CHROMOSOME REGION

THIRD AND FOURTH PHARYNGEAL POUCH SYNDROME

CHROMOSOME 22q11.2 DELETION SYNDROME

CATCH22

DGCR

TAKAO VCF SYNDROME

DGS

HYPOPLASIA OF THYMUS AND PARATHYROIDS
cui

C5574896

C0012236

C1861129
Gene Locus

22q11.2
Gene Symbol

DORV

VCFS

CAFS

CTHM

TGA

DGS

DGCR

TBX1
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU063295

http://purl.bioontology.org/ontology/OMIM/MTHU036379

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

http://purl.bioontology.org/ontology/OMIM/MTHU015273

http://purl.bioontology.org/ontology/OMIM/MTHU009745

http://purl.bioontology.org/ontology/OMIM/MTHU015268

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU000691

http://purl.bioontology.org/ontology/OMIM/MTHU015260

http://purl.bioontology.org/ontology/OMIM/MTHU002079

http://purl.bioontology.org/ontology/OMIM/MTHU004212

http://purl.bioontology.org/ontology/OMIM/MTHU008324

http://purl.bioontology.org/ontology/OMIM/MTHU015280

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

http://purl.bioontology.org/ontology/OMIM/MTHU015274

http://purl.bioontology.org/ontology/OMIM/MTHU015654

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

http://purl.bioontology.org/ontology/OMIM/MTHU002370

http://purl.bioontology.org/ontology/OMIM/MTHU004827

http://purl.bioontology.org/ontology/OMIM/MTHU036661

http://purl.bioontology.org/ontology/OMIM/MTHU037173

http://purl.bioontology.org/ontology/OMIM/MTHU007687

http://purl.bioontology.org/ontology/OMIM/MTHU015276

http://purl.bioontology.org/ontology/OMIM/MTHU067427

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

http://purl.bioontology.org/ontology/OMIM/MTHU015261

http://purl.bioontology.org/ontology/OMIM/MTHU004095

http://purl.bioontology.org/ontology/OMIM/MTHU005530

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

http://purl.bioontology.org/ontology/OMIM/MTHU015284

http://purl.bioontology.org/ontology/OMIM/MTHU067426

http://purl.bioontology.org/ontology/OMIM/MTHU023815

http://purl.bioontology.org/ontology/OMIM/MTHU015095

http://purl.bioontology.org/ontology/OMIM/MTHU002108

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

http://purl.bioontology.org/ontology/OMIM/MTHU037174

http://purl.bioontology.org/ontology/OMIM/MTHU023818

http://purl.bioontology.org/ontology/OMIM/MTHU036908

http://purl.bioontology.org/ontology/OMIM/MTHU037172

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

http://purl.bioontology.org/ontology/OMIM/MTHU000241

http://purl.bioontology.org/ontology/OMIM/MTHU023816

http://purl.bioontology.org/ontology/OMIM/MTHU025960

http://purl.bioontology.org/ontology/OMIM/MTHU015257

http://purl.bioontology.org/ontology/OMIM/MTHU036366

http://purl.bioontology.org/ontology/OMIM/MTHU037171

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

http://purl.bioontology.org/ontology/OMIM/MTHU015258

http://purl.bioontology.org/ontology/OMIM/MTHU015285

http://purl.bioontology.org/ontology/OMIM/MTHU015256

http://purl.bioontology.org/ontology/OMIM/MTHU003212

http://purl.bioontology.org/ontology/OMIM/MTHU015278

http://purl.bioontology.org/ontology/OMIM/MTHU015269

http://purl.bioontology.org/ontology/OMIM/MTHU001442

http://purl.bioontology.org/ontology/OMIM/MTHU000250

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

http://purl.bioontology.org/ontology/OMIM/MTHU015272

http://purl.bioontology.org/ontology/OMIM/MTHU015279

http://purl.bioontology.org/ontology/OMIM/MTHU013899

http://purl.bioontology.org/ontology/OMIM/MTHU002670

http://purl.bioontology.org/ontology/OMIM/MTHU036896

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

Phenotype description, molecular basis known.
Moved from

245210
notation

188400
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

DIGEORGE SYNDROME
Scope Statement

Usually sporadic disorder resulting from de novo 22q11.2 deletion [MISCELLANEOUS]

A contiguous gene syndrome involving deletion of the DiGeorge syndrome chromosome region (DGCR) involving mutations in TUP-like enhancer of split 1 (TUPLE1, 600237) and DiGeorge critical region gene 2 (DGCR2, 600594) [MOLECULAR BASIS]

Incidence is estimated to be between 1 in 2,000 and 1 in 7,000 live births [MISCELLANEOUS]

Hernia occurs in 22% of adults [MISCELLANEOUS]

22q11.2 deletion can present with a variety of phenotypes including velocardiofacial syndrome (192430) [MISCELLANEOUS]
tui

T047

T033
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C566051 MESH CUI
http://purl.bioontology.org/ontology/SNMI/D4-01532 SNMI CUI
http://purl.bioontology.org/ontology/SCTSPA/767263007 SCTSPA CUI
http://purl.bioontology.org/ontology/MEDDRA/10043664 MEDDRA CUI
http://purl.bioontology.org/ontology/NDFRT/N0000000971 NDFRT CUI
http://purl.bioontology.org/ontology/MDRFRE/10043664 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10084363 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10012979 MDRFRE CUI
http://purl.bioontology.org/ontology/CSP/0427-9991 CRISP CUI
http://purl.bioontology.org/ontology/ICD9CM/279.11 ICD9CM CUI
http://purl.bioontology.org/ontology/MEDDRA/10012979 MEDDRA CUI
http://purl.bioontology.org/ontology/MEDDRA/10084363 MEDDRA CUI
http://purl.bioontology.org/ontology/LNC/LA26660-3 LOINC CUI
http://purl.bioontology.org/ontology/MESH/D004062 MESH CUI
http://purl.bioontology.org/ontology/MSHFRE/D004062 MSHFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10043664 MDRGER CUI
http://purl.bioontology.org/ontology/ICD10/D82.1 ICD10 CUI
http://purl.bioontology.org/ontology/MDRGER/10084363 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10012979 MDRGER CUI
http://purl.bioontology.org/ontology/SNOMEDCT/767263007 SNOMEDCT CUI
http://purl.bioontology.org/ontology/RCD/C3911 RCD CUI
http://purl.bioontology.org/ontology/ICD10CM/D82.1 ICD10CM CUI
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.621.207.103.500 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.482.249.500 RH-MESH LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_11198 NATPRO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.180.019.500 RH-MESH LOOM
http://purl.obolibrary.org/obo/DOID_11198 CLO LOOM
http://purl.obolibrary.org/obo/DOID_11198 DOID LOOM
http://purl.obolibrary.org/obo/DOID_11198 BAO LOOM
http://purl.obolibrary.org/obo/DOID_11198 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_11198 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_11198 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_11198 FNS-H LOOM
http://identifiers.org/omim/188400 REXO LOOM
http://identifiers.org/omim/188400 GEXO LOOM
http://identifiers.org/omim/188400 RETO LOOM
http://purl.bioontology.org/ontology/RCTV2/C391100 RCTV2 LOOM
rgo:13283 GAMUTS LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C14.240.400.021.500 RH-MESH LOOM
http://purl.jp/bio/4/id/200906099894098000 IOBC LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C15.604.451.249.500 RH-MESH LOOM
http://purl.obolibrary.org/obo/OMIM_188400 CCO LOOM
http://purl.obolibrary.org/obo/OMIT_0005332 OMIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.240.400.021.500 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.077.019.500 RH-MESH LOOM
http://purl.bioontology.org/ontology/LNC/LA26660-3 LOINC LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C19.642.482.500.500 RH-MESH LOOM
http://purl.bioontology.org/ontology/MESH/D004062 MESH LOOM
http://purl.obolibrary.org/obo/MONDO_0008564 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0008564 DOVES LOOM
http://purl.obolibrary.org/obo/MONDO_0008564 KTAO LOOM
http://www.phoc.org.cn/pmo/class/PMO_00039954 PMAPP-PMO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D004062 RH-MESH LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0012236 OCHV LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#3934 OCHV LOOM
http://purl.obolibrary.org/obo/GSSO_006995 GSSO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.660.207.103.500 RH-MESH LOOM
http://purl.bioontology.org/ontology/RCD/C3911 RCD LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.260.019.500 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C14.280.400.044.500 RH-MESH LOOM