DIGEORGE SYNDROME

DGCR

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

DGCR

DIGEORGE SYNDROME CHROMOSOME REGION

THIRD AND FOURTH PHARYNGEAL POUCH SYNDROME

DGS

CATCH22

TAKAO VCF SYNDROME

HYPOPLASIA OF THYMUS AND PARATHYROIDS

CHROMOSOME 22q11.2 DELETION SYNDROME

C0012236

C1861129

C5574896

22q11.2

DGCR

DGS

TBX1

CAFS

DORV

CTHM

VCFS

TGA

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Phenotype description, molecular basis known.

245210

188400

3

pound

DIGEORGE SYNDROME

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]

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

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]

T033

T047