granulomatous disease, chronic, X-linked
MONDO:0010600Mondo
Findings
No curated finding names granulomatous disease, chronic, X-linked yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- X-linked recessive inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
10 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Air bronchogramHPOHP:0033662
- 1 of 1 reported patient
- AscitesHPOHP:0001541
- 1 of 1 reported patient
- AtelectasisHPOHP:0100750
- 1 of 1 reported patient
- CoughHPOHP:0012735
- 1 of 1 reported patient
- FeverHPOHP:0001945
- 1 of 1 reported patient
- GranulomaHPOHP:0032252
- 1 of 1 reported patient
- HepatomegalyHPOHP:0002240
- 1 of 1 reported patient
- OsteomyelitisHPOHP:0002754
- 1 of 1 reported patient
- Pleural effusionHPOHP:0002202
- 1 of 1 reported patient
- Recurrent pneumoniaHPOHP:0006532
- 1 of 1 reported patient
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CYBBHGNC:2578
- Definitive · Ambry Genetics · X-linked · 2018
- Definitive · G2P · X-linked · 2018
- Definitive · Natera · X-linked recessive · 2022
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2023
Where it sits
- A kind of
Other names
8 names
Resolves to: granulomatous disease, chronic, X-linked
- Also called
- CGDchronic granulomatous disease, atypicalchronic granulomatous disease, X-linkedchronic granulomatous disease, X-linked, X-linked recessivecytochrome B-negative granulomatous disease, chronic, X-linkedcytochrome B-positive granulomatous disease, chronic, X-linkedgranulomatous disease, chronic, autosomal dominant typegranulomatous disease, chronic, X-linked, variant