velocardiofacial syndrome
http://purl.obolibrary.org/obo/MONDO_0008644
A chromosomal disease that has material basis in deletion polymorphisms at chromosome location 22q11 and is characterized by variable developmental problems and schizoid features. [ DOID:12583 PMID:PMID%3A+19243607 ]
Term info
- UMLS:CN205308 (MONDO:equivalentTo)
- MESH:D004062 (MONDO:directSiblingOf)
- DOID:12583 (MONDO:equivalentTo)
- OMIM:192430 (MONDO:equivalentTo)
- ICD9:758.32 (DOID:12583)
A chromosomal disease that has material basis in deletion polymorphisms at chromosome location 22q11 and is characterized by variable developmental problems and schizoid features.
http://purl.obolibrary.org/obo/DOID_12583, http://linkedlifedata.com/resource/umls/id/CN205308, https://omim.org/entry/192430
22q11 deletion syndrome, deletion 22q11.2 syndrome, velocardiofacial syndrome, VCF syndrome, Shprintzen VCF syndrome, VCF-velocardiofacial syndrome
Shprintzen syndrome, chromosome 22Q11.2 deletion syndrome
MONDO:0008644