loading...| Preferred Name |
velocardiofacial syndrome |
| Synonyms |
Shprintzen syndrome |
| Definitions |
A chromosomal deletion disease that has_material_basis_in deletion polymorphisms at chromosome location 22q11 and that is characterized by variable developmental problems and schizoid features. 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_2020_03_01:205642004 ICD9CM:758.32 MESH:D004062 |
| has exact synonym |
Shprintzen syndrome VCF-Velocardiofacial syndrome 22q11 Deletion Syndrome deletion 22q11.2 syndrome |
| id |
DOID:12583 |
| label |
velocardiofacial syndrome |
| notation |
DOID:12583 |
| prefLabel |
velocardiofacial syndrome |
| textual definition |
A chromosomal deletion disease that has_material_basis_in deletion polymorphisms at chromosome location 22q11 and that is characterized by variable developmental problems and schizoid features. |
| 引自 | |
| 有_obo_命名空间 |
disease_ontology |
| subClassOf |