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Preferred Name

VELOCARDIOFACIAL SYNDROME
Synonyms

VCF SYNDROME
ID

http://purl.bioontology.org/ontology/OMIM/192430
altLabel

VCF SYNDROME

SHPRINTZEN VCF SYNDROME

CHROMOSOME 22q11.2 DELETION SYNDROME

VCFS
cui

C0220704
Gene Locus

22q11.2
Gene Symbol

DGCR

DGS

TBX1

CAFS

DORV

CTHM

VCFS

TGA
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU037191

http://purl.bioontology.org/ontology/OMIM/MTHU015097

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

http://purl.bioontology.org/ontology/OMIM/MTHU015089

http://purl.bioontology.org/ontology/OMIM/MTHU036821

http://purl.bioontology.org/ontology/OMIM/MTHU015107

http://purl.bioontology.org/ontology/OMIM/MTHU014120

http://purl.bioontology.org/ontology/OMIM/MTHU015093

http://purl.bioontology.org/ontology/OMIM/MTHU015099

http://purl.bioontology.org/ontology/OMIM/MTHU015091

http://purl.bioontology.org/ontology/OMIM/MTHU015103

http://purl.bioontology.org/ontology/OMIM/MTHU015101

http://purl.bioontology.org/ontology/OMIM/MTHU009191

http://purl.bioontology.org/ontology/OMIM/MTHU003629

http://purl.bioontology.org/ontology/OMIM/MTHU000133

http://purl.bioontology.org/ontology/OMIM/MTHU037192

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

http://purl.bioontology.org/ontology/OMIM/MTHU012111

http://purl.bioontology.org/ontology/OMIM/MTHU008495

http://purl.bioontology.org/ontology/OMIM/MTHU013398

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

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU015088

http://purl.bioontology.org/ontology/OMIM/MTHU005627

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

http://purl.bioontology.org/ontology/OMIM/MTHU015092

http://purl.bioontology.org/ontology/OMIM/MTHU015098

http://purl.bioontology.org/ontology/OMIM/MTHU015096

http://purl.bioontology.org/ontology/OMIM/MTHU015090

http://purl.bioontology.org/ontology/OMIM/MTHU015094

http://purl.bioontology.org/ontology/OMIM/MTHU015102

http://purl.bioontology.org/ontology/OMIM/MTHU015108

http://purl.bioontology.org/ontology/OMIM/MTHU015106

http://purl.bioontology.org/ontology/OMIM/MTHU015100

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU015104

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU067430
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

192430
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

VELOCARDIOFACIAL SYNDROME
Scope Statement

A contiguous gene syndrome caused by deletion (1.5Mb - 3.0Mb) of 22q11.2 [MOLECULAR BASIS]

Overlapping features of DiGeorge syndrome [MISCELLANEOUS]

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

T047
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/MONDO_0008644 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q93.81 International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类，第10版-临床修改 CUI
http://purl.bioontology.org/ontology/ICD10CM/Q93.81 International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类，第10版-临床修改 LOOM
http://purl.bioontology.org/ontology/MESH/D004062 Medical Subject Headings / 医学主题词表 CUI
http://purl.obolibrary.org/obo/DOID_12583 BioAssay Ontology / 生物活性分析本体 LOOM
http://purl.obolibrary.org/obo/DOID_12583 Human Disease Ontology / 人类疾病本体 LOOM