granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
MONDO:0013507Mondo
Findings
No curated finding names granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
8 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.
- Abdominal painHPOHP:0002027
- 1 of 1 reported patient
- Anoperineal fistulaHPOHP:0005218
- 1 of 1 reported patient
- ColitisHPOHP:0002583
- 1 of 1 reported patient
- DiarrheaHPOHP:0002014
- 1 of 1 reported patient
- Elevated circulating C-reactive protein concentrationHPOHP:0011227
- 1 of 1 reported patient
- Elevated erythrocyte sedimentation rateHPOHP:0003565
- 1 of 1 reported patient
- Perioral eczemaHPOHP:0011127
- 1 of 1 reported patient
- Recurrent aphthous stomatitisHPOHP:0011107
- 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.
- NCF4HGNC:7662
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
1 name
Resolves to: granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- Also called
- chronic granulomatous disease 3, autosomal recessive