Hearing Loss Disease Portal


 
Switch to table view
Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Term ID:4799
Name:Granulomatous Disease, Chronic
Definition:A defect of leukocyte function in which phagocytic cells ingest but fail to digest bacteria, resulting in recurring bacterial infections with granuloma formation. When chronic granulomatous disease is caused by mutations in the CYBB gene, the condition is inherited in an X-linked recessive pattern. When chronic granulomatous disease is caused by CYBA, NCF1, NCF2, or NCF4 gene mutations, the condition is inherited in an autosomal recessive pattern.
Alternative IDs:
ParentIDs:MESH:D010585|MESH:D040181
TreeNumbers:C15.378.553.774.535 |C16.320.322.233 |C20.673.774.535
Synonyms:Autosomal Recessive Chronic Granulomatous Disease |Chronic Granulomatous Disease |Chronic Granulomatous Diseases |Disease, Chronic Granulomatous |Diseases, Chronic Granulomatous |Granulomatous Diseases, Chronic |X Linked Chronic Granulomatous Disease |X-Linked
Slim Mappings:Blood disease|Genetic disease (inborn)|Immune system disease
Reference: MedGen: D006105
MeSH: D006105
OMIM:

Genes:
Phenotypes
Disease Causing ClinVar Variants