Human Phenotype Ontology 
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All (HP:0000001)help
Parent Node:
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Phenotypic abnormality (HP:0000118)help
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Abnormality of the thoracic cavity (HP:0045027)help
Term ID: 45027
Name: Abnormality of the thoracic cavity
Synonym:
Definition:
Comments:
Reference: HP:0045027
Genes and Diseases:
 
       Child Nodes:
........expandAbnormality of the mediastinum (HP:0045026) help
................... HP:0025421 Pneumomediastinum
................... HP:0100721 Mediastinal lymphadenopathy

 Sister Nodes: 
..expandAbnormal cellular phenotype (HP:0025354) help
..expandAbnormality of blood and blood-forming tissues (HP:0001871) help
..expandAbnormality of connective tissue (HP:0003549) help
..expandAbnormality of head or neck (HP:0000152) help
..expandAbnormality of limbs (HP:0040064) help
..expandAbnormality of metabolism/homeostasis (HP:0001939) help
..expandAbnormality of prenatal development or birth (HP:0001197) help
..expandAbnormality of the breast (HP:0000769) help
..expandAbnormality of the cardiovascular system (HP:0001626) help
..expandAbnormality of the digestive system (HP:0025031) help
..expandAbnormality of the ear (HP:0000598) help
..expandAbnormality of the endocrine system (HP:0000818) help
..expandAbnormality of the eye (HP:0000478) help
..expandAbnormality of the genitourinary system (HP:0000119) help
..expandAbnormality of the immune system (HP:0002715) help
..expandAbnormality of the integument (HP:0001574) help
..expandAbnormality of the musculature (HP:0003011) help
..expandAbnormality of the nervous system (HP:0000707) help
..expandAbnormality of the respiratory system (HP:0002086) help
..expandAbnormality of the skeletal system (HP:0000924) help
..expandAbnormality of the voice (HP:0001608) help
..expandConstitutional symptom (HP:0025142) help
..expandGrowth abnormality (HP:0001507) help
..expandNeoplasm (HP:0002664) help
..expandobsolete Abnormal test result (HP:0500014) 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:0045027HP:0045027Abnormality of the thoracic cavity0AKT1 CL E G H207391ORPHA:2495Meningioma54
HP:0045027HP:0045027Abnormality of the thoracic cavity0APOE CL E G H348613ORPHA:158029Sea-blue histiocytosis39
HP:0045027HP:0045027Abnormality of the thoracic cavity0BAP1 CL E G H8314950ORPHA:2495Meningioma184
HP:0045027HP:0045027Abnormality of the thoracic cavity0BCL10 CL E G H8915989ORPHA:52417MALT lymphoma18
HP:0045027HP:0045027Abnormality of the thoracic cavity0BCL2 CL E G H596990ORPHA:545Follicular lymphoma1
HP:0045027HP:0045027Abnormality of the thoracic cavity0BCL6 CL E G H6041001ORPHA:545Follicular lymphoma1
HP:0045027HP:0045027Abnormality of the thoracic cavity0BIRC3 CL E G H330591ORPHA:52417MALT lymphoma
HP:0045027HP:0045027Abnormality of the thoracic cavity0BRD4 CL E G H2347613575ORPHA:443167NUT midline carcinoma
HP:0045027HP:0045027Abnormality of the thoracic cavity0BTNL2 CL E G H562441142OMIM:612387Sarcoidosis, susceptibility to, 21
HP:0045027HP:0045027Abnormality of the thoracic cavity0CYBA CL E G H15352577ORPHA:379Chronic granulomatous disease27
HP:0045027HP:0045027Abnormality of the thoracic cavity0CYBB CL E G H15362578ORPHA:379Chronic granulomatous disease111
HP:0045027HP:0045027Abnormality of the thoracic cavity0CYBC1 CL E G H7941528672ORPHA:379Chronic granulomatous disease
HP:0045027HP:0045027Abnormality of the thoracic cavity0DNAJC21 CL E G H13421827030ORPHA:811Shwachman-Diamond syndromeHP:0040283 - Occasional5
HP:0045027HP:0045027Abnormality of the thoracic cavity0EFEMP2 CL E G H300083219ORPHA:90349Autosomal recessive cutis laxa type 1HP:0040282 - Frequent45
HP:0045027HP:0045027Abnormality of the thoracic cavity0EFL1 CL E G H7963125789ORPHA:811Shwachman-Diamond syndromeHP:0040283 - Occasional1
HP:0045027HP:0045027Abnormality of the thoracic cavity0EIF2AK4 CL E G H44027519687ORPHA:199241Pulmonary capillary hemangiomatosis40
HP:0045027HP:0045027Abnormality of the thoracic cavity0EIF2AK4 CL E G H44027519687OMIM:234810PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD240
HP:0045027HP:0045027Abnormality of the thoracic cavity0EWSR1 CL E G H21303508ORPHA:83469Desmoplastic small round cell tumor
HP:0045027HP:0045027Abnormality of the thoracic cavity0FBLN5 CL E G H105163602ORPHA:90349Autosomal recessive cutis laxa type 1HP:0040282 - Frequent63
HP:0045027HP:0045027Abnormality of the thoracic cavity0FOXP1 CL E G H270863823ORPHA:52417MALT lymphoma184
HP:0045027HP:0045027Abnormality of the thoracic cavity0GLMN CL E G H1114614373ORPHA:83454Glomuvenous malformation37
HP:0045027HP:0045027Abnormality of the thoracic cavity0GNPTAB CL E G H7915829670ORPHA:576Mucolipidosis type IIHP:0040282 - Frequent240
HP:0045027HP:0045027Abnormality of the thoracic cavity0HLA-B CL E G H31064932ORPHA:397Giant cell arteritis4
HP:0045027HP:0045027Abnormality of the thoracic cavity0HLA-DPB1 CL E G H31154940ORPHA:133Chronic beryllium disease1
HP:0045027HP:0045027Abnormality of the thoracic cavity0HLA-DRB1 CL E G H31234948ORPHA:545Follicular lymphoma2
HP:0045027HP:0045027Abnormality of the thoracic cavity0HLA-DRB1 CL E G H31234948ORPHA:397Giant cell arteritis2
HP:0045027HP:0045027Abnormality of the thoracic cavity0HLA-DRB1 CL E G H31234948OMIM:181000Sarcoidosis, susceptibility to, 12
HP:0045027HP:0045027Abnormality of the thoracic cavity0IGH CL E G H34925477ORPHA:545Follicular lymphoma7
HP:0045027HP:0045027Abnormality of the thoracic cavity0IGH CL E G H34925477ORPHA:52417MALT lymphoma7
HP:0045027HP:0045027Abnormality of the thoracic cavity0IRF4 CL E G H36626119ORPHA:3452Whipple disease1
HP:0045027HP:0045027Abnormality of the thoracic cavity0LTBP1 CL E G H40526714ORPHA:90349Autosomal recessive cutis laxa type 1HP:0040282 - Frequent
HP:0045027HP:0045027Abnormality of the thoracic cavity0MAGT1 CL E G H8406128880OMIM:300853IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN17
HP:0045027HP:0045027Abnormality of the thoracic cavity0MALT1 CL E G H108926819ORPHA:52417MALT lymphoma6
HP:0045027HP:0045027Abnormality of the thoracic cavity0NAB2 CL E G H46657627ORPHA:2126Solitary fibrous tumor/hemangiopericytoma
HP:0045027HP:0045027Abnormality of the thoracic cavity0NCF1 CL E G H6533617660ORPHA:379Chronic granulomatous disease13
HP:0045027HP:0045027Abnormality of the thoracic cavity0NCF2 CL E G H46887661ORPHA:379Chronic granulomatous disease67
HP:0045027HP:0045027Abnormality of the thoracic cavity0NCF4 CL E G H46897662ORPHA:379Chronic granulomatous disease37
HP:0045027HP:0045027Abnormality of the thoracic cavity0NF2 CL E G H47717773ORPHA:2495Meningioma220
HP:0045027HP:0045027Abnormality of the thoracic cavity0NUTM1 CL E G H25664629919ORPHA:443167NUT midline carcinoma
HP:0045027HP:0045027Abnormality of the thoracic cavity0P4HA2 CL E G H89748547ORPHA:397Giant cell arteritis3
HP:0045027HP:0045027Abnormality of the thoracic cavity0PDGFB CL E G H51558800ORPHA:2495Meningioma9
HP:0045027HP:0045027Abnormality of the thoracic cavity0PIK3CA CL E G H52908975ORPHA:2495Meningioma162
HP:0045027HP:0045027Abnormality of the thoracic cavity0PIK3CG CL E G H52948978OMIM:619802IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD972
HP:0045027HP:0045027Abnormality of the thoracic cavity0PORCN CL E G H6484017652ORPHA:2092Focal dermal hypoplasia20
HP:0045027HP:0045027Abnormality of the thoracic cavity0PRKCD CL E G H55809399OMIM:615559AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS310
HP:0045027HP:0045027Abnormality of the thoracic cavity0PTPN22 CL E G H261919652ORPHA:397Giant cell arteritis3
HP:0045027HP:0045027Abnormality of the thoracic cavity0RASGRP1 CL E G H101259878OMIM:618534IMMUNODEFICIENCY 64; IMD64
HP:0045027HP:0045027Abnormality of the thoracic cavity0RHBDF2 CL E G H7965120788ORPHA:2198Palmoplantar keratoderma-esophageal carcinoma syndrome80
HP:0045027HP:0045027Abnormality of the thoracic cavity0SBDS CL E G H5111919440ORPHA:811Shwachman-Diamond syndromeHP:0040283 - Occasional26
HP:0045027HP:0045027Abnormality of the thoracic cavity0SMARCB1 CL E G H659811103ORPHA:2495Meningioma87
HP:0045027HP:0045027Abnormality of the thoracic cavity0SMARCE1 CL E G H660511109ORPHA:2495Meningioma47
HP:0045027HP:0045027Abnormality of the thoracic cavity0SMO CL E G H660811119ORPHA:2495Meningioma22
HP:0045027HP:0045027Abnormality of the thoracic cavity0SRP54 CL E G H672911301ORPHA:811Shwachman-Diamond syndromeHP:0040283 - Occasional
HP:0045027HP:0045027Abnormality of the thoracic cavity0STAT6 CL E G H677811368ORPHA:2126Solitary fibrous tumor/hemangiopericytoma1
HP:0045027HP:0045027Abnormality of the thoracic cavity0SUFU CL E G H5168416466ORPHA:2495Meningioma124
HP:0045027HP:0045027Abnormality of the thoracic cavity0TERT CL E G H701511730ORPHA:2495Meningioma238
HP:0045027HP:0045027Abnormality of the thoracic cavity0TERT CL E G H701511730OMIM:614742PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1238
HP:0045027HP:0045027Abnormality of the thoracic cavity0TRAF7 CL E G H8423120456ORPHA:2495Meningioma
HP:0045027HP:0045027Abnormality of the thoracic cavity0WT1 CL E G H749012796ORPHA:83469Desmoplastic small round cell tumor177
HP:0045027HP:0045026Abnormal mediastinum morphology1AKT1 CL E G H207391ORPHA:2495MeningiomaHP:0040284 - Very rare54
HP:0045027HP:0045026Abnormal mediastinum morphology1APOE CL E G H348613ORPHA:158029Sea-blue histiocytosis39
HP:0045027HP:0045026Abnormal mediastinum morphology1BAP1 CL E G H8314950ORPHA:2495MeningiomaHP:0040284 - Very rare184
HP:0045027HP:0045026Abnormal mediastinum morphology1BCL10 CL E G H8915989ORPHA:52417MALT lymphoma18
HP:0045027HP:0045026Abnormal mediastinum morphology1BCL2 CL E G H596990ORPHA:545Follicular lymphoma1
HP:0045027HP:0045026Abnormal mediastinum morphology1BCL6 CL E G H6041001ORPHA:545Follicular lymphoma1
HP:0045027HP:0045026Abnormal mediastinum morphology1BIRC3 CL E G H330591ORPHA:52417MALT lymphoma
HP:0045027HP:0045026Abnormal mediastinum morphology1BRD4 CL E G H2347613575ORPHA:443167NUT midline carcinomaHP:0040282 - Frequent
HP:0045027HP:0045026Abnormal mediastinum morphology1BTNL2 CL E G H562441142OMIM:612387Sarcoidosis, susceptibility to, 21
HP:0045027HP:0045026Abnormal mediastinum morphology1CYBA CL E G H15352577ORPHA:379Chronic granulomatous disease27
HP:0045027HP:0045026Abnormal mediastinum morphology1CYBB CL E G H15362578ORPHA:379Chronic granulomatous disease111
HP:0045027HP:0045026Abnormal mediastinum morphology1CYBC1 CL E G H7941528672ORPHA:379Chronic granulomatous disease
HP:0045027HP:0045026Abnormal mediastinum morphology1EIF2AK4 CL E G H44027519687ORPHA:199241Pulmonary capillary hemangiomatosis40
HP:0045027HP:0045026Abnormal mediastinum morphology1EIF2AK4 CL E G H44027519687OMIM:234810PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD240
HP:0045027HP:0045026Abnormal mediastinum morphology1EWSR1 CL E G H21303508ORPHA:83469Desmoplastic small round cell tumor
HP:0045027HP:0045026Abnormal mediastinum morphology1FOXP1 CL E G H270863823ORPHA:52417MALT lymphoma184
HP:0045027HP:0045026Abnormal mediastinum morphology1GLMN CL E G H1114614373ORPHA:83454Glomuvenous malformationHP:0040284 - Very rare37
HP:0045027HP:0045026Abnormal mediastinum morphology1HLA-B CL E G H31064932ORPHA:397Giant cell arteritis4
HP:0045027HP:0045026Abnormal mediastinum morphology1HLA-DPB1 CL E G H31154940ORPHA:133Chronic beryllium disease1
HP:0045027HP:0045026Abnormal mediastinum morphology1HLA-DRB1 CL E G H31234948ORPHA:545Follicular lymphoma2
HP:0045027HP:0045026Abnormal mediastinum morphology1HLA-DRB1 CL E G H31234948ORPHA:397Giant cell arteritis2
HP:0045027HP:0045026Abnormal mediastinum morphology1HLA-DRB1 CL E G H31234948OMIM:181000Sarcoidosis, susceptibility to, 12
HP:0045027HP:0045026Abnormal mediastinum morphology1IGH CL E G H34925477ORPHA:545Follicular lymphoma7
HP:0045027HP:0045026Abnormal mediastinum morphology1IGH CL E G H34925477ORPHA:52417MALT lymphoma7
HP:0045027HP:0045026Abnormal mediastinum morphology1IRF4 CL E G H36626119ORPHA:3452Whipple disease1
HP:0045027HP:0045026Abnormal mediastinum morphology1MAGT1 CL E G H8406128880OMIM:300853IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN17
HP:0045027HP:0045026Abnormal mediastinum morphology1MALT1 CL E G H108926819ORPHA:52417MALT lymphoma6
HP:0045027HP:0045026Abnormal mediastinum morphology1NAB2 CL E G H46657627ORPHA:2126Solitary fibrous tumor/hemangiopericytomaHP:0040284 - Very rare
HP:0045027HP:0045026Abnormal mediastinum morphology1NCF1 CL E G H6533617660ORPHA:379Chronic granulomatous disease13
HP:0045027HP:0045026Abnormal mediastinum morphology1NCF2 CL E G H46887661ORPHA:379Chronic granulomatous disease67
HP:0045027HP:0045026Abnormal mediastinum morphology1NCF4 CL E G H46897662ORPHA:379Chronic granulomatous disease37
HP:0045027HP:0045026Abnormal mediastinum morphology1NF2 CL E G H47717773ORPHA:2495MeningiomaHP:0040284 - Very rare220
HP:0045027HP:0045026Abnormal mediastinum morphology1NUTM1 CL E G H25664629919ORPHA:443167NUT midline carcinomaHP:0040282 - Frequent
HP:0045027HP:0045026Abnormal mediastinum morphology1P4HA2 CL E G H89748547ORPHA:397Giant cell arteritis3
HP:0045027HP:0045026Abnormal mediastinum morphology1PDGFB CL E G H51558800ORPHA:2495MeningiomaHP:0040284 - Very rare9
HP:0045027HP:0045026Abnormal mediastinum morphology1PIK3CA CL E G H52908975ORPHA:2495MeningiomaHP:0040284 - Very rare162
HP:0045027HP:0045026Abnormal mediastinum morphology1PIK3CG CL E G H52948978OMIM:619802IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD972
HP:0045027HP:0045026Abnormal mediastinum morphology1PORCN CL E G H6484017652ORPHA:2092Focal dermal hypoplasiaHP:0040283 - Occasional20
HP:0045027HP:0045026Abnormal mediastinum morphology1PRKCD CL E G H55809399OMIM:615559AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS310
HP:0045027HP:0045026Abnormal mediastinum morphology1PTPN22 CL E G H261919652ORPHA:397Giant cell arteritis3
HP:0045027HP:0045026Abnormal mediastinum morphology1RASGRP1 CL E G H101259878OMIM:618534IMMUNODEFICIENCY 64; IMD64
HP:0045027HP:0045026Abnormal mediastinum morphology1RHBDF2 CL E G H7965120788ORPHA:2198Palmoplantar keratoderma-esophageal carcinoma syndromeHP:0040282 - Frequent80
HP:0045027HP:0045026Abnormal mediastinum morphology1SMARCB1 CL E G H659811103ORPHA:2495MeningiomaHP:0040284 - Very rare87
HP:0045027HP:0045026Abnormal mediastinum morphology1SMARCE1 CL E G H660511109ORPHA:2495MeningiomaHP:0040284 - Very rare47
HP:0045027HP:0045026Abnormal mediastinum morphology1SMO CL E G H660811119ORPHA:2495MeningiomaHP:0040284 - Very rare22
HP:0045027HP:0045026Abnormal mediastinum morphology1STAT6 CL E G H677811368ORPHA:2126Solitary fibrous tumor/hemangiopericytomaHP:0040284 - Very rare1
HP:0045027HP:0045026Abnormal mediastinum morphology1SUFU CL E G H5168416466ORPHA:2495MeningiomaHP:0040284 - Very rare124
HP:0045027HP:0045026Abnormal mediastinum morphology1TERT CL E G H701511730ORPHA:2495MeningiomaHP:0040284 - Very rare238
HP:0045027HP:0045026Abnormal mediastinum morphology1TERT CL E G H701511730OMIM:614742PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1238
HP:0045027HP:0045026Abnormal mediastinum morphology1TRAF7 CL E G H8423120456ORPHA:2495MeningiomaHP:0040284 - Very rare
HP:0045027HP:0045026Abnormal mediastinum morphology1WT1 CL E G H749012796ORPHA:83469Desmoplastic small round cell tumor177
HP:0045027HP:0034502Narrow mediastinum2 CL E G H
HP:0045027HP:0034501Widened mediastinum2 CL E G H
HP:0045027HP:0025421Pneumomediastinum2 CL E G H
HP:0045027HP:0100721Mediastinal lymphadenopathy2APOE CL E G H348613ORPHA:158029Sea-blue histiocytosisHP:0040281 - Very frequent39
HP:0045027HP:0100721Mediastinal lymphadenopathy2BCL10 CL E G H8915989ORPHA:52417MALT lymphomaHP:0040283 - Occasional18
HP:0045027HP:0100721Mediastinal lymphadenopathy2BCL2 CL E G H596990ORPHA:545Follicular lymphomaHP:0040281 - Very frequent1
HP:0045027HP:0100721Mediastinal lymphadenopathy2BCL6 CL E G H6041001ORPHA:545Follicular lymphomaHP:0040281 - Very frequent1
HP:0045027HP:0100721Mediastinal lymphadenopathy2BIRC3 CL E G H330591ORPHA:52417MALT lymphomaHP:0040283 - Occasional
HP:0045027HP:0100721Mediastinal lymphadenopathy2BTNL2 CL E G H562441142OMIM:612387Sarcoidosis, susceptibility to, 21
HP:0045027HP:0100721Mediastinal lymphadenopathy2CYBA CL E G H15352577ORPHA:379Chronic granulomatous diseaseHP:0040281 - Very frequent27
HP:0045027HP:0100721Mediastinal lymphadenopathy2CYBB CL E G H15362578ORPHA:379Chronic granulomatous diseaseHP:0040281 - Very frequent111
HP:0045027HP:0100721Mediastinal lymphadenopathy2CYBC1 CL E G H7941528672ORPHA:379Chronic granulomatous diseaseHP:0040281 - Very frequent
HP:0045027HP:0100721Mediastinal lymphadenopathy2EIF2AK4 CL E G H44027519687ORPHA:199241Pulmonary capillary hemangiomatosisHP:0040282 - Frequent40
HP:0045027HP:0100721Mediastinal lymphadenopathy2EIF2AK4 CL E G H44027519687OMIM:234810PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD240
HP:0045027HP:0100721Mediastinal lymphadenopathy2EWSR1 CL E G H21303508ORPHA:83469Desmoplastic small round cell tumorHP:0040282 - Frequent
HP:0045027HP:0100721Mediastinal lymphadenopathy2FOXP1 CL E G H270863823ORPHA:52417MALT lymphomaHP:0040283 - Occasional184
HP:0045027HP:0100721Mediastinal lymphadenopathy2HLA-B CL E G H31064932ORPHA:397Giant cell arteritisHP:0040283 - Occasional4
HP:0045027HP:0100721Mediastinal lymphadenopathy2HLA-DPB1 CL E G H31154940ORPHA:133Chronic beryllium diseaseHP:0040283 - Occasional1
HP:0045027HP:0100721Mediastinal lymphadenopathy2HLA-DRB1 CL E G H31234948ORPHA:545Follicular lymphomaHP:0040281 - Very frequent2
HP:0045027HP:0100721Mediastinal lymphadenopathy2HLA-DRB1 CL E G H31234948ORPHA:397Giant cell arteritisHP:0040283 - Occasional2
HP:0045027HP:0100721Mediastinal lymphadenopathy2HLA-DRB1 CL E G H31234948OMIM:181000Sarcoidosis, susceptibility to, 12
HP:0045027HP:0100721Mediastinal lymphadenopathy2IGH CL E G H34925477ORPHA:545Follicular lymphomaHP:0040281 - Very frequent7
HP:0045027HP:0100721Mediastinal lymphadenopathy2IGH CL E G H34925477ORPHA:52417MALT lymphomaHP:0040283 - Occasional7
HP:0045027HP:0100721Mediastinal lymphadenopathy2IRF4 CL E G H36626119ORPHA:3452Whipple diseaseHP:0040281 - Very frequent1
HP:0045027HP:0100721Mediastinal lymphadenopathy2MAGT1 CL E G H8406128880OMIM:300853IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN17
HP:0045027HP:0100721Mediastinal lymphadenopathy2MALT1 CL E G H108926819ORPHA:52417MALT lymphomaHP:0040283 - Occasional6
HP:0045027HP:0100721Mediastinal lymphadenopathy2NCF1 CL E G H6533617660ORPHA:379Chronic granulomatous diseaseHP:0040281 - Very frequent13
HP:0045027HP:0100721Mediastinal lymphadenopathy2NCF2 CL E G H46887661ORPHA:379Chronic granulomatous diseaseHP:0040281 - Very frequent67
HP:0045027HP:0100721Mediastinal lymphadenopathy2NCF4 CL E G H46897662ORPHA:379Chronic granulomatous diseaseHP:0040281 - Very frequent37
HP:0045027HP:0100721Mediastinal lymphadenopathy2P4HA2 CL E G H89748547ORPHA:397Giant cell arteritisHP:0040283 - Occasional3
HP:0045027HP:0100721Mediastinal lymphadenopathy2PIK3CG CL E G H52948978OMIM:619802IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD972
HP:0045027HP:0100721Mediastinal lymphadenopathy2PRKCD CL E G H55809399OMIM:615559AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS310
HP:0045027HP:0100721Mediastinal lymphadenopathy2PTPN22 CL E G H261919652ORPHA:397Giant cell arteritisHP:0040283 - Occasional3
HP:0045027HP:0100721Mediastinal lymphadenopathy2RASGRP1 CL E G H101259878OMIM:618534IMMUNODEFICIENCY 64; IMD64
HP:0045027HP:0100721Mediastinal lymphadenopathy2TERT CL E G H701511730OMIM:614742PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1238
HP:0045027HP:0100721Mediastinal lymphadenopathy2WT1 CL E G H749012796ORPHA:83469Desmoplastic small round cell tumorHP:0040282 - Frequent177


Genes (54) :AKT1 APOE BAP1 BCL10 BCL2 BCL6 BIRC3 BRD4 BTNL2 CYBA CYBB CYBC1 DNAJC21 EFEMP2 EFL1 EIF2AK4 EWSR1 FBLN5 FOXP1 GLMN GNPTAB HLA-B HLA-DPB1 HLA-DRB1 IGH IRF4 LTBP1 MAGT1 MALT1 NAB2 NCF1 NCF2 NCF4 NF2 NUTM1 P4HA2 PDGFB PIK3CA PIK3CG PORCN PRKCD PTPN22 RASGRP1 RHBDF2 SBDS SMARCB1 SMARCE1 SMO SRP54 STAT6 SUFU TERT TRAF7 WT1

Diseases (26) :ORPHA:2495 ORPHA:158029 ORPHA:52417 ORPHA:545 ORPHA:443167 OMIM:612387 ORPHA:379 ORPHA:811 ORPHA:90349 ORPHA:199241 OMIM:234810 ORPHA:83469 ORPHA:83454 ORPHA:576 ORPHA:397 ORPHA:133 OMIM:181000 ORPHA:3452 OMIM:300853 ORPHA:2126 OMIM:619802 ORPHA:2092 OMIM:615559 OMIM:618534 ORPHA:2198 OMIM:614742
 

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