Term ID: |
3206 |
Name: |
Decreased activity of NADPH oxidase |
Synonym: |
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Definition: |
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Comments: |
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Reference: |
HP:0003206 |
Genes and Diseases: | | Child Nodes: | Sister Nodes: | Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: | HPO disease - gene - phenotype less frequent non-typical associations: | HP:0003206 | HP:0003206 | Decreased activity of NADPH oxidase | 0 | CYBA CL E G H | 1535 | 2577 | OMIM:233690 | GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE | . | | | 27 | | | HP:0003206 | HP:0003206 | Decreased activity of NADPH oxidase | 0 | CYBB CL E G H | 1536 | 2578 | OMIM:306400 | Chronic granulomatous disease, X-linked | . | | | 111 | | | HP:0003206 | HP:0003206 | Decreased activity of NADPH oxidase | 0 | NADK2 CL E G H | 133686 | 26404 | ORPHA:431361 | Progressive encephalopathy with leukodystrophy due to DECR deficiency | HP:0040282 - Frequent | | | 14 | | | HP:0003206 | HP:0003206 | Decreased activity of NADPH oxidase | 0 | NCF1 CL E G H | 653361 | 7660 | OMIM:233700 | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I | . | | | 13 | | | HP:0003206 | HP:0003206 | Decreased activity of NADPH oxidase | 0 | NCF2 CL E G H | 4688 | 7661 | OMIM:233710 | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II | . | | | 67 | | |
Genes (5) :CYBA CYBB NADK2 NCF1 NCF2
Diseases (5) :OMIM:233690 OMIM:306400 ORPHA:431361 OMIM:233700 OMIM:233710 |
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.
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