loading...| Preferred Name | velocardiofacial syndrome | |
| Synonyms |
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| 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. OMIM mapping confirmed by DO. [LS]. |
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| ID |
http://purl.obolibrary.org/obo/DOID_12583 |
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| comment |
OMIM mapping confirmed by DO. [LS]. |
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| 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. |
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| hasDbXref |
SNOMEDCT_US_2016_03_01:83092002 ICD10CM:Q93.81 SNOMEDCT_US_2016_03_01:205642004 MESH:D004062 OMIM:192430 ICD9CM:758.32 UMLS_CUI:C0220704 |
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| hasExactSynonym |
VCF-Velocardiofacial syndrome Shprintzen syndrome 22q11 Deletion Syndrome deletion 22q11.2 syndrome |
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| hasOBONamespace |
disease_ontology |
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| id |
DOID:12583 |
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| imported from | ||
| label |
velocardiofacial syndrome |
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| prefixIRI |
DOID:12583 |
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| prefLabel |
velocardiofacial syndrome |
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| subClassOf |