Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the lymph nodes (HP:0002733)help
Parent Node:
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Abnormal mediastinum morphology (HP:0045026)help
Parent Node:
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Lymphadenopathy (HP:0002716)help
..Starting node
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Mediastinal lymphadenopathy (HP:0100721)help
Term ID: 100721
Name: Mediastinal lymphadenopathy
Synonym: Swollen lymph nodes in center of chest; Swollen lymph nodes in centre of chest
Definition: Swelling of lymph nodes within the mediastinum, the central compartment of the thoracic cavities that contains the heart and the great vessels, the esophagus, and trachea and other structures including lymph nodes.
Comments:
Reference: HP:0100721
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandCervical lymphadenopathy (HP:0025289) help
..expandChronic noninfectious lymphadenopathy (HP:0002730) help
..expandFollicular hyperplasia (HP:0002729) help
..expandGeneralized lymphadenopathy (HP:0008940) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100721HP:0100721Mediastinal lymphadenopathy0APOE CL E G H348613ORPHA:158029Sea-blue histiocytosisHP:0040281 - Very frequent39
HP:0100721HP:0100721Mediastinal lymphadenopathy0BCL10 CL E G H8915989ORPHA:52417MALT lymphomaHP:0040283 - Occasional18
HP:0100721HP:0100721Mediastinal lymphadenopathy0BCL2 CL E G H596990ORPHA:545Follicular lymphomaHP:0040281 - Very frequent1
HP:0100721HP:0100721Mediastinal lymphadenopathy0BCL6 CL E G H6041001ORPHA:545Follicular lymphomaHP:0040281 - Very frequent1
HP:0100721HP:0100721Mediastinal lymphadenopathy0BIRC3 CL E G H330591ORPHA:52417MALT lymphomaHP:0040283 - Occasional
HP:0100721HP:0100721Mediastinal lymphadenopathy0BTNL2 CL E G H562441142OMIM:612387Sarcoidosis, susceptibility to, 21
HP:0100721HP:0100721Mediastinal lymphadenopathy0CYBA CL E G H15352577ORPHA:379Chronic granulomatous diseaseHP:0040281 - Very frequent27
HP:0100721HP:0100721Mediastinal lymphadenopathy0CYBB CL E G H15362578ORPHA:379Chronic granulomatous diseaseHP:0040281 - Very frequent111
HP:0100721HP:0100721Mediastinal lymphadenopathy0CYBC1 CL E G H7941528672ORPHA:379Chronic granulomatous diseaseHP:0040281 - Very frequent
HP:0100721HP:0100721Mediastinal lymphadenopathy0EIF2AK4 CL E G H44027519687ORPHA:199241Pulmonary capillary hemangiomatosisHP:0040282 - Frequent40
HP:0100721HP:0100721Mediastinal lymphadenopathy0EIF2AK4 CL E G H44027519687OMIM:234810PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD240
HP:0100721HP:0100721Mediastinal lymphadenopathy0EWSR1 CL E G H21303508ORPHA:83469Desmoplastic small round cell tumorHP:0040282 - Frequent
HP:0100721HP:0100721Mediastinal lymphadenopathy0FOXP1 CL E G H270863823ORPHA:52417MALT lymphomaHP:0040283 - Occasional184
HP:0100721HP:0100721Mediastinal lymphadenopathy0HLA-B CL E G H31064932ORPHA:397Giant cell arteritisHP:0040283 - Occasional4
HP:0100721HP:0100721Mediastinal lymphadenopathy0HLA-DPB1 CL E G H31154940ORPHA:133Chronic beryllium diseaseHP:0040283 - Occasional1
HP:0100721HP:0100721Mediastinal lymphadenopathy0HLA-DRB1 CL E G H31234948ORPHA:545Follicular lymphomaHP:0040281 - Very frequent2
HP:0100721HP:0100721Mediastinal lymphadenopathy0HLA-DRB1 CL E G H31234948ORPHA:397Giant cell arteritisHP:0040283 - Occasional2
HP:0100721HP:0100721Mediastinal lymphadenopathy0HLA-DRB1 CL E G H31234948OMIM:181000Sarcoidosis, susceptibility to, 12
HP:0100721HP:0100721Mediastinal lymphadenopathy0IGH CL E G H34925477ORPHA:545Follicular lymphomaHP:0040281 - Very frequent7
HP:0100721HP:0100721Mediastinal lymphadenopathy0IGH CL E G H34925477ORPHA:52417MALT lymphomaHP:0040283 - Occasional7
HP:0100721HP:0100721Mediastinal lymphadenopathy0IRF4 CL E G H36626119ORPHA:3452Whipple diseaseHP:0040281 - Very frequent1
HP:0100721HP:0100721Mediastinal lymphadenopathy0MAGT1 CL E G H8406128880OMIM:300853IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN17
HP:0100721HP:0100721Mediastinal lymphadenopathy0MALT1 CL E G H108926819ORPHA:52417MALT lymphomaHP:0040283 - Occasional6
HP:0100721HP:0100721Mediastinal lymphadenopathy0NCF1 CL E G H6533617660ORPHA:379Chronic granulomatous diseaseHP:0040281 - Very frequent13
HP:0100721HP:0100721Mediastinal lymphadenopathy0NCF2 CL E G H46887661ORPHA:379Chronic granulomatous diseaseHP:0040281 - Very frequent67
HP:0100721HP:0100721Mediastinal lymphadenopathy0NCF4 CL E G H46897662ORPHA:379Chronic granulomatous diseaseHP:0040281 - Very frequent37
HP:0100721HP:0100721Mediastinal lymphadenopathy0P4HA2 CL E G H89748547ORPHA:397Giant cell arteritisHP:0040283 - Occasional3
HP:0100721HP:0100721Mediastinal lymphadenopathy0PIK3CG CL E G H52948978OMIM:619802IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD972
HP:0100721HP:0100721Mediastinal lymphadenopathy0PRKCD CL E G H55809399OMIM:615559AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS310
HP:0100721HP:0100721Mediastinal lymphadenopathy0PTPN22 CL E G H261919652ORPHA:397Giant cell arteritisHP:0040283 - Occasional3
HP:0100721HP:0100721Mediastinal lymphadenopathy0RASGRP1 CL E G H101259878OMIM:618534IMMUNODEFICIENCY 64; IMD64
HP:0100721HP:0100721Mediastinal lymphadenopathy0TERT CL E G H701511730OMIM:614742PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1238
HP:0100721HP:0100721Mediastinal lymphadenopathy0WT1 CL E G H749012796ORPHA:83469Desmoplastic small round cell tumorHP:0040282 - Frequent177


Genes (29) :APOE BCL10 BCL2 BCL6 BIRC3 BTNL2 CYBA CYBB CYBC1 EIF2AK4 EWSR1 FOXP1 HLA-B HLA-DPB1 HLA-DRB1 IGH IRF4 MAGT1 MALT1 NCF1 NCF2 NCF4 P4HA2 PIK3CG PRKCD PTPN22 RASGRP1 TERT WT1

Diseases (17) :ORPHA:158029 ORPHA:52417 ORPHA:545 OMIM:612387 ORPHA:379 ORPHA:199241 OMIM:234810 ORPHA:83469 ORPHA:397 ORPHA:133 OMIM:181000 ORPHA:3452 OMIM:300853 OMIM:619802 OMIM:615559 OMIM:618534 OMIM:614742
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.