Human Phenotype Ontology 
Grandparent Node:
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Abnormal respiratory system morphology (HP:0012252)help
Parent Node:
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Abnormal lung morphology (HP:0002088)help
..Starting node
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Hemoptysis (HP:0002105)help
Term ID: 2105
Name: Hemoptysis
Synonym: Coughing up blood; Coughing up blood or blood-stained mucus; Haemoptysis
Definition: Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs.
Comments:
Reference: HP:0002105
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal lung lobation (HP:0002101) help
..expandAbnormal pleura morphology (HP:0002103) help
..expandAbnormal pulmonary interstitial morphology (HP:0006530) help
..expandAbnormal pulmonary lymphatics (HP:0006529) help
..expandAbnormal subpleural morphology (HP:0031630) help
..expandAbnormality of the pulmonary vasculature (HP:0004930) help
..expandAplasia/Hypoplasia of the lungs (HP:0006703) help
..expandAtelectasis (HP:0100750) help
..expandBronchogenic cyst (HP:0100730) help
..expandBronchopulmonary sequestration (HP:0010960) help
..expandChronic lung disease (HP:0006528) help
..expandEmphysema (HP:0002097) help
..expandHypersensitivity pneumonitis (HP:0006516) help
..expandIntraalveolar nodular calcifications (HP:0006514) help
..expandIntraalveolar phospholipid accumulation (HP:0006517) help
..expandLung abscess (HP:0025044) help
..expandMultiple pulmonary cysts (HP:0005948) help
..expandNeoplasm of the lung (HP:0100526) help
..expandPneumothorax (HP:0002107) help
..expandPulmonary edema (HP:0100598) help
..expandPulmonary fibrosis (HP:0002206) help
..expandPulmonary granulomatosis (HP:0030250) help
..expandPulmonary hemorrhage (HP:0040223) help
..expandPulmonary infiltrates (HP:0002113) help
..expandPulmonary opacity (HP:0031457) help
..expandPulmonary pneumatocele (HP:0025419) help
..expandRespiratory tract infection (HP:0011947) help
..expandUnilateral primary pulmonary dysgenesis (HP:0006549) 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:0002105HP:0002105Hemoptysis0ACTA2 CL E G H59130ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional94
HP:0002105HP:0002105Hemoptysis0ACVRL1 CL E G H94175ORPHA:774Hereditary hemorrhagic telangiectasiaHP:0040283 - Occasional178
HP:0002105HP:0002105Hemoptysis0BTNL2 CL E G H562441142ORPHA:797SarcoidosisHP:0040284 - Very rare1
HP:0002105HP:0002105Hemoptysis0BTNL2 CL E G H562441142OMIM:612387Sarcoidosis, susceptibility to, 21
HP:0002105HP:0002105Hemoptysis0C4A CL E G H7201323ORPHA:117Behçet diseaseHP:0040283 - Occasional1
HP:0002105HP:0002105Hemoptysis0CCR1 CL E G H12301602ORPHA:117Behçet diseaseHP:0040283 - Occasional
HP:0002105HP:0002105Hemoptysis0CEACAM3 CL E G H10841815ORPHA:586Cystic fibrosis
HP:0002105HP:0002105Hemoptysis0CEACAM6 CL E G H46801818ORPHA:586Cystic fibrosis1
HP:0002105HP:0002105Hemoptysis0CFTR CL E G H10801884ORPHA:586Cystic fibrosis1371
HP:0002105HP:0002105Hemoptysis0CFTR CL E G H10801884OMIM:219700Cystic fibrosis1371
HP:0002105HP:0002105Hemoptysis0CFTR CL E G H10801884ORPHA:60033Idiopathic bronchiectasisHP:0040282 - Frequent1371
HP:0002105HP:0002105Hemoptysis0CLCA4 CL E G H228022018ORPHA:586Cystic fibrosis
HP:0002105HP:0002105Hemoptysis0CLEC7A CL E G H6458114558ORPHA:1334Chronic mucocutaneous candidiasisHP:0040283 - Occasional3
HP:0002105HP:0002105Hemoptysis0COL3A1 CL E G H12812201OMIM:130050Ehlers-Danlos syndrome, Vascular type749
HP:0002105HP:0002105Hemoptysis0COL3A1 CL E G H12812201ORPHA:286Vascular Ehlers-Danlos syndromeHP:0040283 - Occasional749
HP:0002105HP:0002105Hemoptysis0COL5A1 CL E G H12892209OMIM:130000Ehlers-danlos syndrome, type I660
HP:0002105HP:0002105Hemoptysis0COL5A2 CL E G H12902210OMIM:130010Ehlers-Danlos syndrome, classic type, 2325
HP:0002105HP:0002105Hemoptysis0CTLA4 CL E G H14932505ORPHA:900Granulomatosis with polyangiitisHP:0040282 - Frequent10
HP:0002105HP:0002105Hemoptysis0DCTN4 CL E G H5116415518ORPHA:586Cystic fibrosis
HP:0002105HP:0002105Hemoptysis0DNASE1L3 CL E G H17762959ORPHA:36412Hypocomplementemic urticarial vasculitisHP:0040282 - Frequent3
HP:0002105HP:0002105Hemoptysis0EDNRA CL E G H19093179ORPHA:586Cystic fibrosis3
HP:0002105HP:0002105Hemoptysis0EIF2AK4 CL E G H44027519687ORPHA:199241Pulmonary capillary hemangiomatosisHP:0040282 - Frequent40
HP:0002105HP:0002105Hemoptysis0ELN CL E G H20063327ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional172
HP:0002105HP:0002105Hemoptysis0ENG CL E G H20223349ORPHA:774Hereditary hemorrhagic telangiectasiaHP:0040283 - Occasional186
HP:0002105HP:0002105Hemoptysis0ENG CL E G H20223349OMIM:187300Telangiectasia, hereditary hemorrhagic, type 1186
HP:0002105HP:0002105Hemoptysis0ERAP1 CL E G H5175218173ORPHA:117Behçet diseaseHP:0040283 - Occasional1
HP:0002105HP:0002105Hemoptysis0F5 CL E G H21533542ORPHA:326Congenital factor V deficiencyHP:0040284 - Very rare159
HP:0002105HP:0002105Hemoptysis0FAS CL E G H35511920ORPHA:117Behçet diseaseHP:0040283 - Occasional59
HP:0002105HP:0002105Hemoptysis0FBN1 CL E G H22003603ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional1361
HP:0002105HP:0002105Hemoptysis0FCGR2A CL E G H22123616OMIM:219700Cystic fibrosis6
HP:0002105HP:0002105Hemoptysis0FOXE3 CL E G H23013808ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional23
HP:0002105HP:0002105Hemoptysis0GCLC CL E G H27294311ORPHA:586Cystic fibrosis2
HP:0002105HP:0002105Hemoptysis0GDF2 CL E G H26584217ORPHA:774Hereditary hemorrhagic telangiectasiaHP:0040283 - Occasional8
HP:0002105HP:0002105Hemoptysis0GIMAP5 CL E G H5534018005OMIM:619463PORTAL HYPERTENSION, NONCIRRHOTIC, 2; NCPH2
HP:0002105HP:0002105Hemoptysis0GSTM3 CL E G H29474635ORPHA:586Cystic fibrosis1
HP:0002105HP:0002105Hemoptysis0HEY2 CL E G H234934881ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional
HP:0002105HP:0002105Hemoptysis0HFE CL E G H30774886ORPHA:586Cystic fibrosis38
HP:0002105HP:0002105Hemoptysis0HLA-B CL E G H31064932ORPHA:117Behçet diseaseHP:0040283 - Occasional4
HP:0002105HP:0002105Hemoptysis0HLA-B CL E G H31064932ORPHA:3287Takayasu arteritisHP:0040283 - Occasional4
HP:0002105HP:0002105Hemoptysis0HLA-DPA1 CL E G H31134938ORPHA:900Granulomatosis with polyangiitisHP:0040282 - Frequent
HP:0002105HP:0002105Hemoptysis0HLA-DPB1 CL E G H31154940ORPHA:900Granulomatosis with polyangiitisHP:0040282 - Frequent1
HP:0002105HP:0002105Hemoptysis0HLA-DRB1 CL E G H31234948ORPHA:747Autoimmune pulmonary alveolar proteinosisHP:0040284 - Very rare2
HP:0002105HP:0002105Hemoptysis0HLA-DRB1 CL E G H31234948ORPHA:797SarcoidosisHP:0040284 - Very rare2
HP:0002105HP:0002105Hemoptysis0HLA-DRB1 CL E G H31234948OMIM:181000Sarcoidosis, susceptibility to, 12
HP:0002105HP:0002105Hemoptysis0HMOX1 CL E G H31625013ORPHA:586Cystic fibrosis3
HP:0002105HP:0002105Hemoptysis0IFNG CL E G H34585438ORPHA:805Tuberous sclerosis complexHP:0040283 - Occasional23
HP:0002105HP:0002105Hemoptysis0IFNGR1 CL E G H34595439ORPHA:117Behçet diseaseHP:0040283 - Occasional60
HP:0002105HP:0002105Hemoptysis0IL10 CL E G H35865962ORPHA:117Behçet diseaseHP:0040283 - Occasional2
HP:0002105HP:0002105Hemoptysis0IL12A CL E G H35925969ORPHA:117Behçet diseaseHP:0040283 - Occasional
HP:0002105HP:0002105Hemoptysis0IL12A-AS1 CL E G H10192837649094ORPHA:117Behçet diseaseHP:0040283 - Occasional
HP:0002105HP:0002105Hemoptysis0IL12B CL E G H35935970ORPHA:3287Takayasu arteritisHP:0040283 - Occasional31
HP:0002105HP:0002105Hemoptysis0IL17F CL E G H11274416404ORPHA:1334Chronic mucocutaneous candidiasisHP:0040283 - Occasional14
HP:0002105HP:0002105Hemoptysis0IL17RA CL E G H237655985ORPHA:1334Chronic mucocutaneous candidiasisHP:0040283 - Occasional196
HP:0002105HP:0002105Hemoptysis0IL17RC CL E G H8481818358ORPHA:1334Chronic mucocutaneous candidiasisHP:0040283 - Occasional4
HP:0002105HP:0002105Hemoptysis0IL23R CL E G H14923319100ORPHA:117Behçet diseaseHP:0040283 - Occasional1
HP:0002105HP:0002105Hemoptysis0KCNN4 CL E G H37836293ORPHA:586Cystic fibrosis3
HP:0002105HP:0002105Hemoptysis0KLRC4 CL E G H83026377ORPHA:117Behçet diseaseHP:0040283 - Occasional
HP:0002105HP:0002105Hemoptysis0LOX CL E G H40156664ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional6
HP:0002105HP:0002105Hemoptysis0MAT2A CL E G H41446904ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional13
HP:0002105HP:0002105Hemoptysis0MEFV CL E G H42106998ORPHA:117Behçet diseaseHP:0040283 - Occasional281
HP:0002105HP:0002105Hemoptysis0MFAP5 CL E G H807629673ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional11
HP:0002105HP:0002105Hemoptysis0MIF CL E G H42827097ORPHA:586Cystic fibrosis1
HP:0002105HP:0002105Hemoptysis0MLX CL E G H694511645ORPHA:3287Takayasu arteritisHP:0040283 - Occasional
HP:0002105HP:0002105Hemoptysis0MYH11 CL E G H46297569ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional418
HP:0002105HP:0002105Hemoptysis0MYLK CL E G H46387590ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional326
HP:0002105HP:0002105Hemoptysis0PRKG1 CL E G H55929414ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional41
HP:0002105HP:0002105Hemoptysis0PRTN3 CL E G H56579495ORPHA:900Granulomatosis with polyangiitisHP:0040282 - Frequent
HP:0002105HP:0002105Hemoptysis0PTPN22 CL E G H261919652ORPHA:900Granulomatosis with polyangiitisHP:0040282 - Frequent3
HP:0002105HP:0002105Hemoptysis0SCNN1A CL E G H633710599ORPHA:60033Idiopathic bronchiectasisHP:0040282 - Frequent67
HP:0002105HP:0002105Hemoptysis0SCNN1B CL E G H633810600ORPHA:60033Idiopathic bronchiectasisHP:0040282 - Frequent61
HP:0002105HP:0002105Hemoptysis0SCNN1G CL E G H634010602ORPHA:60033Idiopathic bronchiectasisHP:0040282 - Frequent57
HP:0002105HP:0002105Hemoptysis0SERPINA1 CL E G H52658941OMIM:613490Alpha-1-Antitrypsin deficiency131
HP:0002105HP:0002105Hemoptysis0SERPINA1 CL E G H52658941ORPHA:586Cystic fibrosis131
HP:0002105HP:0002105Hemoptysis0SLC11A1 CL E G H655610907ORPHA:586Cystic fibrosis2
HP:0002105HP:0002105Hemoptysis0SLC26A9 CL E G H11501914469ORPHA:586Cystic fibrosis5
HP:0002105HP:0002105Hemoptysis0SLC34A2 CL E G H1056811020ORPHA:60025Pulmonary alveolar microlithiasisHP:0040283 - Occasional7
HP:0002105HP:0002105Hemoptysis0SLC6A14 CL E G H1125411047ORPHA:586Cystic fibrosis
HP:0002105HP:0002105Hemoptysis0SLC9A3 CL E G H655011073ORPHA:586Cystic fibrosis7
HP:0002105HP:0002105Hemoptysis0SMAD2 CL E G H40876768ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional7
HP:0002105HP:0002105Hemoptysis0SMAD3 CL E G H40886769ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional260
HP:0002105HP:0002105Hemoptysis0SMAD4 CL E G H40896770ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional504
HP:0002105HP:0002105Hemoptysis0SMAD4 CL E G H40896770ORPHA:774Hereditary hemorrhagic telangiectasiaHP:0040283 - Occasional504
HP:0002105HP:0002105Hemoptysis0STAT4 CL E G H677511365ORPHA:117Behçet diseaseHP:0040283 - Occasional2
HP:0002105HP:0002105Hemoptysis0STX1A CL E G H680411433ORPHA:586Cystic fibrosis
HP:0002105HP:0002105Hemoptysis0TGFB1 CL E G H704011766ORPHA:586Cystic fibrosis13
HP:0002105HP:0002105Hemoptysis0TGFB1 CL E G H704011766OMIM:219700Cystic fibrosis13
HP:0002105HP:0002105Hemoptysis0TGFB2 CL E G H704211768ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional162
HP:0002105HP:0002105Hemoptysis0TGFB3 CL E G H704311769ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional85
HP:0002105HP:0002105Hemoptysis0TGFBR1 CL E G H704611772ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional239
HP:0002105HP:0002105Hemoptysis0TGFBR2 CL E G H704811773ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional253
HP:0002105HP:0002105Hemoptysis0TLL1 CL E G H709211843ORPHA:99106Atrial septal defect, ostium primum typeHP:0040283 - Occasional6
HP:0002105HP:0002105Hemoptysis0TLR4 CL E G H709911850ORPHA:117Behçet diseaseHP:0040283 - Occasional3
HP:0002105HP:0002105Hemoptysis0TRAF3IP2 CL E G H107581343ORPHA:1334Chronic mucocutaneous candidiasisHP:0040283 - Occasional4
HP:0002105HP:0002105Hemoptysis0TSC1 CL E G H724812362ORPHA:538LymphangioleiomyomatosisHP:0040283 - Occasional1090
HP:0002105HP:0002105Hemoptysis0TSC1 CL E G H724812362ORPHA:805Tuberous sclerosis complexHP:0040283 - Occasional1090
HP:0002105HP:0002105Hemoptysis0TSC2 CL E G H724912363ORPHA:538LymphangioleiomyomatosisHP:0040283 - Occasional2738
HP:0002105HP:0002105Hemoptysis0TSC2 CL E G H724912363ORPHA:805Tuberous sclerosis complexHP:0040283 - Occasional2738
HP:0002105HP:0002105Hemoptysis0UBAC2 CL E G H33786720486ORPHA:117Behçet diseaseHP:0040283 - Occasional


Genes (85) :ACTA2 ACVRL1 BTNL2 C4A CCR1 CEACAM3 CEACAM6 CFTR CLCA4 CLEC7A COL3A1 COL5A1 COL5A2 CTLA4 DCTN4 DNASE1L3 EDNRA EIF2AK4 ELN ENG ERAP1 F5 FAS FBN1 FCGR2A FOXE3 GCLC GDF2 GIMAP5 GSTM3 HEY2 HFE HLA-B HLA-DPA1 HLA-DPB1 HLA-DRB1 HMOX1 IFNG IFNGR1 IL10 IL12A IL12A-AS1 IL12B IL17F IL17RA IL17RC IL23R KCNN4 KLRC4 LOX MAT2A MEFV MFAP5 MIF MLX MYH11 MYLK PRKG1 PRTN3 PTPN22 SCNN1A SCNN1B SCNN1G SERPINA1 SLC11A1 SLC26A9 SLC34A2 SLC6A14 SLC9A3 SMAD2 SMAD3 SMAD4 STAT4 STX1A TGFB1 TGFB2 TGFB3 TGFBR1 TGFBR2 TLL1 TLR4 TRAF3IP2 TSC1 TSC2 UBAC2

Diseases (27) :ORPHA:91387 ORPHA:774 ORPHA:797 OMIM:612387 ORPHA:117 ORPHA:586 OMIM:219700 ORPHA:60033 ORPHA:1334 OMIM:130050 ORPHA:286 OMIM:130000 OMIM:130010 ORPHA:900 ORPHA:36412 ORPHA:199241 OMIM:187300 ORPHA:326 OMIM:619463 ORPHA:3287 ORPHA:747 OMIM:181000 ORPHA:805 OMIM:613490 ORPHA:60025 ORPHA:99106 ORPHA:538
 

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