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Diseases

Distal 22Q11.2 Microdeletion Syndrome

distal 22q11.2 microdeletion syndrome

Entity Type
Diseases
Relation Groups
1
Relation Preview
4

Basic Information

Grouped by core information, identifiers, and descriptions.

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Core Information

Disease Name
Distal 22Q11.2 Microdeletion Syndrome
Standard Disease Name
distal 22q11.2 microdeletion syndrome
MeSH Tree
No data
ICD-10
Q93.5

Identifiers

DO ID
No data
MeSH ID
C567511
OMIM ID
611867
UMLS ID
C2678480
HPO ID
No data

Description and Extensions

Description
Distal 22q11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 22, with a highly variable phenotype characterized by pr
Related

Direct relations and traceable candidates grouped by relation type.

Related Targets

target disease4 Targets
01
BCR
BCR activator of RhoGEF and GTPase
BCR activator of RhoGEF and GTPase
02
CRKL
CRK like proto-oncogene, adaptor protein
CRK like proto-oncogene, adaptor protein
04
MAPK1
mitogen-activated protein kinase 1
mitogen-activated protein kinase 1