loading...| Preferred Name |
velocardiofacial syndrome |
| Synonyms |
Shprintzen syndrome |
| Definitions |
A chromosomal deletion disease that has_material_basis_in da 1.5- to 3.0-Mb hemizygous deletion of chromosome 22q11.2 and that is characterized by variable developmental problems and schizoid features. Haploinsufficiency of the TBX1 gene in particular is responsible for most of the physical malformations. OMIM mapping confirmed by DO. [LS]. |
| ID |
http://purl.obolibrary.org/obo/DOID_12583 |
| comment |
OMIM mapping confirmed by DO. [LS]. |
| database_cross_reference |
OMIM:192430 ICD10CM:Q93.81 UMLS_CUI:C0220704 SNOMEDCT_US_2022_09_01:205642004 ICD9CM:758.32 MESH:D004062 |
| definition |
A chromosomal deletion disease that has_material_basis_in da 1.5- to 3.0-Mb hemizygous deletion of chromosome 22q11.2 and that is characterized by variable developmental problems and schizoid features. Haploinsufficiency of the TBX1 gene in particular is responsible for most of the physical malformations. |
| has exact synonym |
Shprintzen syndrome VCF-Velocardiofacial syndrome |
| has_obo_namespace |
disease_ontology |
| id |
DOID:12583 |
| label |
velocardiofacial syndrome |
| notation |
DOID:12583 |
| prefLabel |
velocardiofacial syndrome |
| subClassOf |