Term ID: 2955
Name: Granulomatosis
Synonym:
Definition: A granulomatous inflammation leading to multiple granuloma formation, which is a specific type of inflammation. A granuloma is a focal compact collection of inflammatory cells, mononuclear cells predominating, usually as a result of the persistence of a non-degradable product and of active cell mediated hypersensitivity.
Comments:
Reference: HP:0002955
Genes and Diseases: Child Nodes: ........Hepatic granulomatosis (HP:0011955) ........Non-caseating epithelioid cell granulomatosis (HP:0012220) ........Lipogranulomatosis (HP:0040139) ........Cerebral granulomatosis (HP:0100313) Sister Nodes: ..Abnormal macrophage count (HP:0030326) ..Bone-marrow foam cells (HP:0004333) ..Hemophagocytosis (HP:0012156) ..Histiocytosis (HP:0100727) ..Sea-blue histiocytosis (HP:0001982) Input HPO ID HPO term Distance Gene Gene id entrez HGNC ID DiseaseId DiseaseName Frequency Onset HGMD variants ClinVar variants HP:0002955 HP:0002955 Granulomatosis 0 ASAH1 CL E G H 427 735 OMIM:228000 Farber lipogranulomatosis 78 HP:0002955 HP:0002955 Granulomatosis 0 CTLA4 CL E G H 1493 2505 ORPHA:900 Granulomatosis with polyangiitis HP:0040281 - Very frequent 10 HP:0002955 HP:0002955 Granulomatosis 0 CYBA CL E G H 1535 2577 OMIM:233690 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE . 27 HP:0002955 HP:0002955 Granulomatosis 0 CYBB CL E G H 1536 2578 OMIM:306400 Chronic granulomatous disease, X-linked . 111 HP:0002955 HP:0002955 Granulomatosis 0 HLA-DPA1 CL E G H 3113 4938 ORPHA:900 Granulomatosis with polyangiitis HP:0040281 - Very frequent HP:0002955 HP:0002955 Granulomatosis 0 HLA-DPB1 CL E G H 3115 4940 ORPHA:900 Granulomatosis with polyangiitis HP:0040281 - Very frequent 1 HP:0002955 HP:0002955 Granulomatosis 0 NCF1 CL E G H 653361 7660 OMIM:233700 Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I . 13 HP:0002955 HP:0002955 Granulomatosis 0 NCF2 CL E G H 4688 7661 OMIM:233710 Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II . 67 HP:0002955 HP:0002955 Granulomatosis 0 PRTN3 CL E G H 5657 9495 ORPHA:900 Granulomatosis with polyangiitis HP:0040281 - Very frequent HP:0002955 HP:0002955 Granulomatosis 0 PTPN22 CL E G H 26191 9652 ORPHA:900 Granulomatosis with polyangiitis HP:0040281 - Very frequent 3 HP:0002955 HP:0100313 Cerebral granulomatosis 1 CL E G H HP:0002955 HP:0012220 Non-caseating epithelioid cell granulomatosis 1 CL E G H HP:0002955 HP:0011955 Hepatic granulomatosis 1 CL E G H HP:0002955 HP:0040139 Lipogranulomatosis 1 ASAH1 CL E G H 427 735 OMIM:228000 Farber lipogranulomatosis . 78
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.
