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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.

Term:Granulomatosis
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Accession:HP:0002955 term browser browse the term
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.
Comment:This finding can be demonstrated by tissue biopsy. A granuloma is a compact (organized) collection of mature mononuclear phagocytes (macrophages and/or epithelioid cells) which may or may not be accompanied by accessory features such as necrosis or the infiltration of other inflammatory leukocytes (Adams DO. The granulomatous inflammatory response. Am J Pathol 1976:84:163-192).
Synonyms:xref: SNOMEDCT_US:443138004;   SNOMEDCT_US:44328006;   UMLS:C0521173



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Granulomatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTLA4 cytotoxic T-lymphocyte associated protein 4 IAGP HPO ORPHA:900 NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965
JBrowse link
G CYBA cytochrome b-245 alpha chain IAGP HPO OMIM:233690 NCBI chr16:88,643,289...88,651,053
Ensembl chr16:88,643,275...88,651,083
JBrowse link
G CYBB cytochrome b-245 beta chain IAGP HPO OMIM:306400 NCBI chr  X:37,780,059...37,813,461
Ensembl chr  X:37,780,018...37,813,461
JBrowse link
G HLA-B major histocompatibility complex, class I, B susceptibility IAGP DNA:polymorphisms:cds:HLA-B-7, HLA-B-8 RGD PMID:23808178 RGD:7364872 NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067
JBrowse link
G HLA-DPA1 major histocompatibility complex, class II, DP alpha 1 IAGP HPO ORPHA:900 NCBI chr 6:33,064,569...33,080,748
Ensembl chr 6:33,064,569...33,080,775
JBrowse link
G HLA-DPB1 major histocompatibility complex, class II, DP beta 1 IAGP HPO ORPHA:900 NCBI chr 6:33,075,990...33,089,696
Ensembl chr 6:33,075,990...33,089,696
JBrowse link
G NCF1 neutrophil cytosolic factor 1 IAGP HPO OMIM:233700 NCBI chr 7:74,774,011...74,789,315
Ensembl chr 7:74,774,011...74,789,315
JBrowse link
G NCF2 neutrophil cytosolic factor 2 IAGP HPO OMIM:233710 NCBI chr 1:183,555,562...183,601,849
Ensembl chr 1:183,554,461...183,590,905
JBrowse link
G PRTN3 proteinase 3 IAGP HPO ORPHA:900 NCBI chr19:840,999...848,175
Ensembl chr19:840,999...848,175
JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 IAGP HPO ORPHA:900 NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753
JBrowse link
Lipogranulomatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASAH1 N-acylsphingosine amidohydrolase 1 IAGP HPO OMIM:228000 NCBI chr 8:18,055,992...18,084,961
Ensembl chr 8:18,055,992...18,084,998
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21509
    Phenotypic abnormality 21500
      Abnormality of blood and blood-forming tissues 2629
        Abnormal leukocyte morphology 774
          Abnormal myeloid leukocyte morphology 381
            Abnormal macrophage morphology 48
              Granulomatosis 11
                Cerebral granulomatosis 0
                Gastrointestinal granulomatosis 0
                Hepatic granulomatosis 0
                Lipogranulomatosis 1
                Non-caseating epithelioid cell granulomatosis 0
                Urinary bladder granulomatosis 0
Path 2
Term Annotations click to browse term
  Human phenotype 21509
    Phenotypic abnormality 21500
      Abnormality of the immune system 2692
        Abnormal immune system morphology 801
          Abnormal cellular immune system morphology 774
            Abnormal leukocyte morphology 774
              Abnormal myeloid leukocyte morphology 381
                Abnormal macrophage morphology 48
                  Granulomatosis 11
                    Cerebral granulomatosis 0
                    Gastrointestinal granulomatosis 0
                    Hepatic granulomatosis 0
                    Lipogranulomatosis 1
                    Non-caseating epithelioid cell granulomatosis 0
                    Urinary bladder granulomatosis 0
paths to the root