Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

DIGEORGE SYNDROME

Synonyms

DGCR

ID

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

altLabel

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

cui

C0012236

C1861129

C1414025

Gene Locus

22q11.2

Gene Symbol

DGCR

DGS

TBX1

CAFS

DORV

CTHM

VCFS

TGA

Has manifestation

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/MTHU015282

http://purl.bioontology.org/ontology/OMIM/MTHU015288

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/MTHU027517

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

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

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

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU015259

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/MTHU015267

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

http://purl.bioontology.org/ontology/OMIM/MTHU015265

http://purl.bioontology.org/ontology/OMIM/MTHU015263

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU015281

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

http://purl.bioontology.org/ontology/OMIM/MTHU015275

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

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU015271

http://purl.bioontology.org/ontology/OMIM/MTHU015277

http://purl.bioontology.org/ontology/OMIM/MTHU027518

http://purl.bioontology.org/ontology/OMIM/MTHU015283

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

http://purl.bioontology.org/ontology/OMIM/MTHU015289

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/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/MTHU015262

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

http://purl.bioontology.org/ontology/OMIM/MTHU031489

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/MTHU023818

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

http://purl.bioontology.org/ontology/OMIM/MTHU015270

http://purl.bioontology.org/ontology/OMIM/MTHU015264

MIMTYPEMEANING

Phenotype description, molecular basis known.

Moved from

245210

notation

188400

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

DIGEORGE SYNDROME

tui

T028

T047

Delete Subject Author Type Created
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