Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
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Preferred Name

VELOCARDIOFACIAL SYNDROME
Synonyms

VCFS

CHROMOSOME 22q11.2 DELETION SYNDROME

VCF SYNDROME

SHPRINTZEN VCF SYNDROME
ID

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

VCFS

CHROMOSOME 22q11.2 DELETION SYNDROME

VCF SYNDROME

SHPRINTZEN VCF SYNDROME
cui

C0220704
Gene Locus

22q11.2
Gene Symbol

DORV

VCFS

CAFS

CTHM

TGA

DGS

DGCR

TBX1
Has manifestation

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Overlapping features of DiGeorge syndrome [MISCELLANEOUS]
tui

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MEDDRA/10066430 MEDDRA CUI
http://purl.bioontology.org/ontology/ICD9CM/758.32 ICD9CM CUI
http://purl.bioontology.org/ontology/MDRGER/10066430 MDRGER CUI
http://purl.bioontology.org/ontology/MDRFRE/10066430 MDRFRE CUI
http://purl.bioontology.org/ontology/RCD/X00mm RCD CUI
http://purl.bioontology.org/ontology/MESH/D004062 MESH CUI
http://purl.bioontology.org/ontology/MSHFRE/D004062 MSHFRE CUI
http://purl.bioontology.org/ontology/ICD10CM/Q93.81 ICD10CM CUI
http://purl.bioontology.org/ontology/CSP/5004-0080 CRISP CUI
http://purl.bioontology.org/ontology/SNMI/D4-00805 SNMI CUI
http://purl.obolibrary.org/obo/MONDO_0008644 MONDO LOOM
http://purl.obolibrary.org/obo/OMIM_192430 CCO LOOM
http://purl.obolibrary.org/obo/DOID_12583 DTO LOOM
http://purl.obolibrary.org/obo/DOID_12583 DOID LOOM
http://purl.obolibrary.org/obo/DOID_12583 BAO LOOM
http://purl.obolibrary.org/obo/DOID_12583 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_12583 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_12583 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_12583 FNS-H LOOM
http://purl.bioontology.org/ontology/MEDDRA/10066430 MEDDRA LOOM
http://purl.bioontology.org/ontology/ICD9CM/758.32 ICD9CM LOOM
http://purl.bioontology.org/ontology/ICD9CM/758.32 NLMVS LOOM
http://identifiers.org/omim/192430 REXO LOOM
http://identifiers.org/omim/192430 GEXO LOOM
http://identifiers.org/omim/192430 RETO LOOM
http://purl.jp/bio/4/id/201106054120612147 IOBC LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q93.81 NLMVS LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q93.81 ICD10CM LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_12583 NATPRO LOOM
http://purl.bioontology.org/ontology/CSP/5004-0080 CRISP LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0220704 OCHV LOOM
http://purl.obolibrary.org/obo/MONDO_0008644 DOVES LOOM
http://purl.obolibrary.org/obo/MONDO_0008644 KTAO LOOM
rgo:13318 GAMUTS LOOM