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Kidney Tissue Atlas Ontology
Last uploaded:
March 16, 2024
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| Id | http://purl.obolibrary.org/obo/MONDO_0008644
http://purl.obolibrary.org/obo/MONDO_0008644
|
|---|---|
| Preferred Name | velocardiofacial syndrome |
| Definitions |
A chromosomal disease that has material basis in deletion polymorphisms at chromosome location 22q11 and is characterized by variable developmental problems and schizoid features.
|
| Synonyms |
chromosome 22Q11.2 deletion syndrome
Vcf syndrome
Shprintzen Vcf syndrome
VCF-velocardiofacial syndrome
22q11 deletion syndrome
velocardiofacial syndrome
Shprintzen syndrome
deletion 22q11.2 syndrome
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| label |
velocardiofacial syndrome
|
|---|---|
| prefLabel |
velocardiofacial syndrome
|
| exactMatch | |
| database_cross_reference |
UMLS:CN205308
ICD9:758.32
DOID:12583
OMIM:192430
ICD10:Q93.81
|
| notation |
MONDO:0008644
|
| has related synonym |
chromosome 22Q11.2 deletion syndrome
Vcf syndrome
Shprintzen Vcf syndrome
|
| id |
MONDO:0008644
|
| textual definition |
A chromosomal disease that has material basis in deletion polymorphisms at chromosome location 22q11 and is characterized by variable developmental problems and schizoid features.
|
| subClassOf | |
| imported from | |
| closeMatch | |
| type | |
| has exact synonym |
VCF-velocardiofacial syndrome
22q11 deletion syndrome
velocardiofacial syndrome
Shprintzen syndrome
deletion 22q11.2 syndrome
|
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