Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the respiratory system (HP:0002086)help
Parent Node:
expand
Abnormal respiratory system physiology (HP:0002795)help
..Starting node
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Cough (HP:0012735)help
Term ID: 12735
Name: Cough
Synonym: Cough; Coughing
Definition: A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation.
Comments:
Reference: HP:0012735
Genes and Diseases:
 
       Child Nodes:
........expandProductive cough (HP:0031245) help
........expandNonproductive cough (HP:0031246) help
........expandWhooping cough (HP:0031247) help

 Sister Nodes: 
..expandAbnormal blood gas level (HP:0012415) help
..expandAbnormal breath sound (HP:0030829) help
..expandAbnormal bronchus physiology (HP:0025427) help
..expandAbnormal mucociliary clearance (HP:0031602) help
..expandAbnormal nasal mucus secretion (HP:0031416) help
..expandAbnormal pattern of respiration (HP:0002793) help
..expandAbnormal respiratory motile cilium physiology (HP:0012261) help
..expandAbnormal response to short acting pulmonary vasodilator (HP:0030893) help
..expandAbnormality of pulmonary circulation (HP:0030875) help
..expandAbnormality on pulmonary function testing (HP:0030878) help
..expandAirway obstruction (HP:0006536) help
..expandAspiration (HP:0002835) help
..expandAsthma (HP:0002099) help
..expandBreathing dysregulation (HP:0005957) help
..expandCyanosis (HP:0000961) help
..expandDyspnea (HP:0002094) help
..expandobsolete Decreased pulmonary function (HP:0005952) help
..expandRecurrent singultus (HP:0100247) help
..expandReduced vital capacity (HP:0002792) help
..expandRespiratory insufficiency (HP:0002093) help
..expandRestrictive ventilatory defect (HP:0002091) help
..expandSneeze (HP:0025095) help
..expandSnoring (HP:0025267) help
..expandTracheal tug on inspiration (HP:0025008) help
..expandUpper airway obstruction (HP:0002781) help
..expandWeakness of muscles of respiration (HP:0004347) 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:0012735HP:0012735Cough0ABCA3 CL E G H2133ORPHA:2032Idiopathic pulmonary fibrosisHP:0040282 - Frequent147
HP:0012735HP:0012735Cough0ABCA3 CL E G H2133OMIM:610921Surfactant metabolism dysfunction, pulmonary, 3147
HP:0012735HP:0012735Cough0ACAT1 CL E G H3893ORPHA:134Beta-ketothiolase deficiencyHP:0040282 - Frequent91
HP:0012735HP:0012735Cough0ATL1 CL E G H5106211231ORPHA:36386Hereditary sensory and autonomic neuropathy type 1HP:0040283 - Occasional71
HP:0012735HP:0012735Cough0ATL3 CL E G H2592324526ORPHA:36386Hereditary sensory and autonomic neuropathy type 1HP:0040283 - Occasional5
HP:0012735HP:0012735Cough0ATP11A CL E G H2325013552ORPHA:2032Idiopathic pulmonary fibrosisHP:0040282 - Frequent
HP:0012735HP:0012735Cough0BAP1 CL E G H8314950ORPHA:50251Pleural mesotheliomaHP:0040282 - Frequent184
HP:0012735HP:0012735Cough0BCOR CL E G H5488020893ORPHA:520Acute promyelocytic leukemia101
HP:0012735HP:0012735Cough0BLNK CL E G H2976014211ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent4
HP:0012735HP:0012735Cough0BMPR2 CL E G H6591078OMIM:178600Pulmonary hypertension, primary, 1525
HP:0012735HP:0012735Cough0BTNL2 CL E G H562441142ORPHA:797SarcoidosisHP:0040282 - Frequent1
HP:0012735HP:0012735Cough0CCDC103 CL E G H38838932700OMIM:614679Ciliary dyskinesia, primary, 17.36
HP:0012735HP:0012735Cough0CCDC103 CL E G H38838932700ORPHA:244Primary ciliary dyskinesia36
HP:0012735HP:0012735Cough0CCDC39 CL E G H33982925244OMIM:613807Ciliary dyskinesia, primary, 14126
HP:0012735HP:0012735Cough0CCDC39 CL E G H33982925244ORPHA:244Primary ciliary dyskinesia126
HP:0012735HP:0012735Cough0CCDC40 CL E G H5503626090OMIM:613808CILIARY DYSKINESIA, PRIMARY, 15; CILD15182
HP:0012735HP:0012735Cough0CCDC40 CL E G H5503626090ORPHA:244Primary ciliary dyskinesia182
HP:0012735HP:0012735Cough0CCDC65 CL E G H8547829937ORPHA:244Primary ciliary dyskinesia23
HP:0012735HP:0012735Cough0CCNO CL E G H1030918576ORPHA:244Primary ciliary dyskinesia23
HP:0012735HP:0012735Cough0CD79A CL E G H9731698ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent9
HP:0012735HP:0012735Cough0CD79B CL E G H9741699ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent6
HP:0012735HP:0012735Cough0CFAP221 CL E G H20037333720ORPHA:244Primary ciliary dyskinesia
HP:0012735HP:0012735Cough0CFAP298 CL E G H566831301ORPHA:244Primary ciliary dyskinesia
HP:0012735HP:0012735Cough0CFAP300 CL E G H8501628188OMIM:618063Ciliary dyskinesia, primary, 38.
HP:0012735HP:0012735Cough0CFAP300 CL E G H8501628188ORPHA:244Primary ciliary dyskinesia
HP:0012735HP:0012735Cough0CFAP52 CL E G H14684516053OMIM:619607HETEROTAXY, VISCERAL, 10, AUTOSOMAL, WITH MALE INFERTILITY; HTX10
HP:0012735HP:0012735Cough0CFTR CL E G H10801884ORPHA:60033Idiopathic bronchiectasis1371
HP:0012735HP:0012735Cough0CLEC7A CL E G H6458114558ORPHA:1334Chronic mucocutaneous candidiasisHP:0040283 - Occasional3
HP:0012735HP:0012735Cough0COL4A5 CL E G H12872207ORPHA:1018X-linked Alport syndrome-diffuse leiomyomatosisHP:0040283 - Occasional678
HP:0012735HP:0012735Cough0COL4A6 CL E G H12882208ORPHA:1018X-linked Alport syndrome-diffuse leiomyomatosisHP:0040283 - Occasional18
HP:0012735HP:0012735Cough0COPA CL E G H13142230OMIM:616414AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE; AILJK5
HP:0012735HP:0012735Cough0CRLF1 CL E G H92442364ORPHA:930Idiopathic achalasiaHP:0040282 - Frequent24
HP:0012735HP:0012735Cough0CSF2RA CL E G H14382435ORPHA:264675Hereditary pulmonary alveolar proteinosisHP:0040283 - Occasional15
HP:0012735HP:0012735Cough0CSF2RB CL E G H14392436ORPHA:264675Hereditary pulmonary alveolar proteinosisHP:0040283 - Occasional17
HP:0012735HP:0012735Cough0CTLA4 CL E G H14932505ORPHA:900Granulomatosis with polyangiitisHP:0040282 - Frequent10
HP:0012735HP:0012735Cough0CYBB CL E G H15362578OMIM:306400Chronic granulomatous disease, X-linked111
HP:0012735HP:0012735Cough0CYTB CL E G H45197427ORPHA:137675Histiocytoid cardiomyopathyHP:0040283 - Occasional
HP:0012735HP:0012735Cough0DLEC1 CL E G H99402899ORPHA:99977Squamous cell carcinoma of the esophagusHP:0040282 - Frequent
HP:0012735HP:0012735Cough0DNAAF1 CL E G H12387230539ORPHA:244Primary ciliary dyskinesia116
HP:0012735HP:0012735Cough0DNAAF11 CL E G H2363916725ORPHA:244Primary ciliary dyskinesia
HP:0012735HP:0012735Cough0DNAAF2 CL E G H5517220188ORPHA:244Primary ciliary dyskinesia78
HP:0012735HP:0012735Cough0DNAAF3 CL E G H35290930492ORPHA:244Primary ciliary dyskinesia63
HP:0012735HP:0012735Cough0DNAAF4 CL E G H16158221493ORPHA:244Primary ciliary dyskinesia27
HP:0012735HP:0012735Cough0DNAAF5 CL E G H5491926013ORPHA:244Primary ciliary dyskinesia62
HP:0012735HP:0012735Cough0DNAAF6 CL E G H13921228570OMIM:300991Ciliary dyskinesia, primary, 36, X-linked.
HP:0012735HP:0012735Cough0DNAAF6 CL E G H13921228570ORPHA:244Primary ciliary dyskinesia
HP:0012735HP:0012735Cough0DNAH1 CL E G H259812940ORPHA:244Primary ciliary dyskinesia21
HP:0012735HP:0012735Cough0DNAH11 CL E G H87012942OMIM:611884CILIARY DYSKINESIA, PRIMARY, 7; CILD7542
HP:0012735HP:0012735Cough0DNAH11 CL E G H87012942ORPHA:244Primary ciliary dyskinesia542
HP:0012735HP:0012735Cough0DNAH5 CL E G H17672950ORPHA:244Primary ciliary dyskinesia527
HP:0012735HP:0012735Cough0DNAH9 CL E G H17702953OMIM:618300Ciliary dyskinesia, primary, 40.18
HP:0012735HP:0012735Cough0DNAH9 CL E G H17702953ORPHA:244Primary ciliary dyskinesia18
HP:0012735HP:0012735Cough0DNAI1 CL E G H270192954ORPHA:244Primary ciliary dyskinesia73
HP:0012735HP:0012735Cough0DNAI2 CL E G H6444618744OMIM:612444CILIARY DYSKINESIA, PRIMARY, 9; CILD9104
HP:0012735HP:0012735Cough0DNAI2 CL E G H6444618744ORPHA:244Primary ciliary dyskinesia104
HP:0012735HP:0012735Cough0DNAJB13 CL E G H37440730718ORPHA:244Primary ciliary dyskinesia2
HP:0012735HP:0012735Cough0DNAL1 CL E G H8354423247ORPHA:244Primary ciliary dyskinesia167
HP:0012735HP:0012735Cough0DNASE1L3 CL E G H17762959ORPHA:36412Hypocomplementemic urticarial vasculitisHP:0040282 - Frequent3
HP:0012735HP:0012735Cough0DPP9 CL E G H9103918648ORPHA:2032Idiopathic pulmonary fibrosisHP:0040282 - Frequent
HP:0012735HP:0012735Cough0DRC1 CL E G H9274924245ORPHA:244Primary ciliary dyskinesia44
HP:0012735HP:0012735Cough0DSP CL E G H18323052ORPHA:2032Idiopathic pulmonary fibrosisHP:0040282 - Frequent747
HP:0012735HP:0012735Cough0EIF2AK4 CL E G H44027519687OMIM:234810PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD240
HP:0012735HP:0012735Cough0EPOR CL E G H20573416ORPHA:90042Primary familial polycythemiaHP:0040283 - Occasional43
HP:0012735HP:0012735Cough0FAM13A CL E G H1014419367ORPHA:2032Idiopathic pulmonary fibrosisHP:0040282 - Frequent
HP:0012735HP:0012735Cough0FARSA CL E G H21933592OMIM:619013RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2
HP:0012735HP:0012735Cough0FARSB CL E G H1005617800OMIM:613658Rajab interstitial lung disease with brain calcifications
HP:0012735HP:0012735Cough0FIP1L1 CL E G H8160819124ORPHA:520Acute promyelocytic leukemia4
HP:0012735HP:0012735Cough0FOCAD CL E G H5491423377OMIM:6199913
HP:0012735HP:0012735Cough0FOXJ1 CL E G H23023816OMIM:618699CILIARY DYSKINESIA, PRIMARY, 43; CILD43
HP:0012735HP:0012735Cough0FOXJ1 CL E G H23023816ORPHA:244Primary ciliary dyskinesia
HP:0012735HP:0012735Cough0GAS2L2 CL E G H24617624846ORPHA:244Primary ciliary dyskinesia1
HP:0012735HP:0012735Cough0GAS8 CL E G H26224166OMIM:616726Ciliary dyskinesia, primary, 339
HP:0012735HP:0012735Cough0GAS8 CL E G H26224166ORPHA:244Primary ciliary dyskinesia9
HP:0012735HP:0012735Cough0GBA1 CL E G H26294177ORPHA:77260Gaucher disease type 2HP:0040282 - Frequent
HP:0012735HP:0012735Cough0HLA-B CL E G H31064932ORPHA:397Giant cell arteritisHP:0040283 - Occasional4
HP:0012735HP:0012735Cough0HLA-B CL E G H31064932ORPHA:36426Stevens-Johnson syndromeHP:0040283 - Occasional4
HP:0012735HP:0012735Cough0HLA-DPA1 CL E G H31134938ORPHA:900Granulomatosis with polyangiitisHP:0040282 - Frequent
HP:0012735HP:0012735Cough0HLA-DPB1 CL E G H31154940ORPHA:133Chronic beryllium diseaseHP:0040282 - Frequent1
HP:0012735HP:0012735Cough0HLA-DPB1 CL E G H31154940ORPHA:900Granulomatosis with polyangiitisHP:0040282 - Frequent1
HP:0012735HP:0012735Cough0HLA-DQA1 CL E G H31174942ORPHA:930Idiopathic achalasiaHP:0040282 - Frequent
HP:0012735HP:0012735Cough0HLA-DQB1 CL E G H31194944ORPHA:930Idiopathic achalasiaHP:0040282 - Frequent
HP:0012735HP:0012735Cough0HLA-DRB1 CL E G H31234948ORPHA:747Autoimmune pulmonary alveolar proteinosisHP:0040283 - Occasional2
HP:0012735HP:0012735Cough0HLA-DRB1 CL E G H31234948ORPHA:397Giant cell arteritisHP:0040283 - Occasional2
HP:0012735HP:0012735Cough0HLA-DRB1 CL E G H31234948ORPHA:797SarcoidosisHP:0040282 - Frequent2
HP:0012735HP:0012735Cough0HLA-DRB1 CL E G H31234948OMIM:181000Sarcoidosis, susceptibility to, 1.2
HP:0012735HP:0012735Cough0HYDIN CL E G H5476819368ORPHA:244Primary ciliary dyskinesia21
HP:0012735HP:0012735Cough0IGHM CL E G H35075541ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent7
HP:0012735HP:0012735Cough0IGLL1 CL E G H35435870ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent3
HP:0012735HP:0012735Cough0IKZF1 CL E G H1032013176ORPHA:36426Stevens-Johnson syndromeHP:0040283 - Occasional8
HP:0012735HP:0012735Cough0IL17F CL E G H11274416404ORPHA:1334Chronic mucocutaneous candidiasisHP:0040283 - Occasional14
HP:0012735HP:0012735Cough0IL17RA CL E G H237655985ORPHA:1334Chronic mucocutaneous candidiasisHP:0040283 - Occasional196
HP:0012735HP:0012735Cough0IL17RC CL E G H8481818358ORPHA:1334Chronic mucocutaneous candidiasisHP:0040283 - Occasional4
HP:0012735HP:0012735Cough0IL2RG CL E G H35616010ORPHA:276T-B+ severe combined immunodeficiency due to gamma chain deficiencyHP:0040282 - Frequent48
HP:0012735HP:0012735Cough0IRF2BP2 CL E G H35994821729ORPHA:520Acute promyelocytic leukemia4
HP:0012735HP:0012735Cough0IRF4 CL E G H36626119ORPHA:3452Whipple diseaseHP:0040283 - Occasional1
HP:0012735HP:0012735Cough0LPIN2 CL E G H966314450ORPHA:77297Majeed syndromeHP:0040283 - Occasional186
HP:0012735HP:0012735Cough0LRRC56 CL E G H11539925430OMIM:618254CILIARY DYSKINESIA, PRIMARY, 39; CILD39
HP:0012735HP:0012735Cough0LRRC56 CL E G H11539925430ORPHA:244Primary ciliary dyskinesia
HP:0012735HP:0012735Cough0LRRC8A CL E G H5626219027ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent3
HP:0012735HP:0012735Cough0MARS1 CL E G H41416898OMIM:615486Interstitial lung and liver disease.
HP:0012735HP:0012735Cough0MCIDAS CL E G H34564340050ORPHA:244Primary ciliary dyskinesia13
HP:0012735HP:0012735Cough0MPZ CL E G H43597225OMIM:607736Charcot-Marie-Tooth disease, type 2J134
HP:0012735HP:0012735Cough0MUC5B CL E G H7278977516ORPHA:2032Idiopathic pulmonary fibrosisHP:0040282 - Frequent133
HP:0012735HP:0012735Cough0MUC5B CL E G H7278977516OMIM:178500Pulmonary fibrosis, idiopathic133
HP:0012735HP:0012735Cough0NABP1 CL E G H6485926232ORPHA:520Acute promyelocytic leukemia
HP:0012735HP:0012735Cough0NEK10 CL E G H15211018592ORPHA:244Primary ciliary dyskinesia
HP:0012735HP:0012735Cough0NKX2-1 CL E G H708011825OMIM:610978Choreoathetosis, hypothyroidism, and neonatal respiratory distress51
HP:0012735HP:0012735Cough0NME8 CL E G H5131416473ORPHA:244Primary ciliary dyskinesia50
HP:0012735HP:0012735Cough0NOS1 CL E G H48427872ORPHA:930Idiopathic achalasiaHP:0040282 - Frequent2
HP:0012735HP:0012735Cough0NPM1 CL E G H48697910ORPHA:520Acute promyelocytic leukemia12
HP:0012735HP:0012735Cough0NUMA1 CL E G H49268059ORPHA:520Acute promyelocytic leukemia
HP:0012735HP:0012735Cough0ODAD1 CL E G H9323326560OMIM:615067Ciliary dyskinesia, primary, 20.
HP:0012735HP:0012735Cough0ODAD1 CL E G H9323326560ORPHA:244Primary ciliary dyskinesia
HP:0012735HP:0012735Cough0ODAD2 CL E G H5513025583OMIM:615451CILIARY DYSKINESIA, PRIMARY, 23; CILD23
HP:0012735HP:0012735Cough0ODAD2 CL E G H5513025583ORPHA:244Primary ciliary dyskinesia
HP:0012735HP:0012735Cough0ODAD3 CL E G H11594828303OMIM:616037Ciliary dyskinesia, primary, 30.
HP:0012735HP:0012735Cough0ODAD3 CL E G H11594828303ORPHA:244Primary ciliary dyskinesia
HP:0012735HP:0012735Cough0ODAD4 CL E G H8353825280OMIM:617092Ciliary dyskinesia, primary, 35.
HP:0012735HP:0012735Cough0ODAD4 CL E G H8353825280ORPHA:244Primary ciliary dyskinesia
HP:0012735HP:0012735Cough0OFD1 CL E G H84812567ORPHA:244Primary ciliary dyskinesia201
HP:0012735HP:0012735Cough0P4HA2 CL E G H89748547ORPHA:397Giant cell arteritisHP:0040283 - Occasional3
HP:0012735HP:0012735Cough0PANK2 CL E G H8002515894ORPHA:216866Classic pantothenate kinase-associated neurodegenerationHP:0040283 - Occasional55
HP:0012735HP:0012735Cough0PARN CL E G H50738609ORPHA:2032Idiopathic pulmonary fibrosisHP:0040282 - Frequent26
HP:0012735HP:0012735Cough0PARN CL E G H50738609OMIM:616371PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4; PFBMFT426
HP:0012735HP:0012735Cough0PIK3R1 CL E G H52958979ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent43
HP:0012735HP:0012735Cough0PML CL E G H53719113ORPHA:520Acute promyelocytic leukemia3
HP:0012735HP:0012735Cough0PMP22 CL E G H53769118ORPHA:90658Charcot-Marie-Tooth disease type 1EHP:0040283 - Occasional79
HP:0012735HP:0012735Cough0POMT1 CL E G H105859202ORPHA:86812POMT1-related limb-girdle muscular dystrophy R11HP:0040283 - Occasional213
HP:0012735HP:0012735Cough0PRIM1 CL E G H55579369OMIM:620005
HP:0012735HP:0012735Cough0PRKAR1A CL E G H55739388ORPHA:520Acute promyelocytic leukemia134
HP:0012735HP:0012735Cough0PRTN3 CL E G H56579495ORPHA:900Granulomatosis with polyangiitisHP:0040282 - Frequent
HP:0012735HP:0012735Cough0PTPN22 CL E G H261919652ORPHA:397Giant cell arteritisHP:0040283 - Occasional3
HP:0012735HP:0012735Cough0PTPN22 CL E G H261919652ORPHA:900Granulomatosis with polyangiitisHP:0040282 - Frequent3
HP:0012735HP:0012735Cough0RARA CL E G H59149864ORPHA:520Acute promyelocytic leukemia2
HP:0012735HP:0012735Cough0RFC1 CL E G H59819969OMIM:614575Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
HP:0012735HP:0012735Cough0RNF6 CL E G H604910069ORPHA:99977Squamous cell carcinoma of the esophagusHP:0040282 - Frequent3
HP:0012735HP:0012735Cough0RPGR CL E G H610310295ORPHA:244Primary ciliary dyskinesia200
HP:0012735HP:0012735Cough0RSPH1 CL E G H8976512371ORPHA:244Primary ciliary dyskinesia31
HP:0012735HP:0012735Cough0RSPH3 CL E G H8386121054ORPHA:244Primary ciliary dyskinesia5
HP:0012735HP:0012735Cough0RSPH4A CL E G H34589521558ORPHA:244Primary ciliary dyskinesia58
HP:0012735HP:0012735Cough0RSPH9 CL E G H22142121057ORPHA:244Primary ciliary dyskinesia20
HP:0012735HP:0012735Cough0RTEL1 CL E G H5175015888ORPHA:2032Idiopathic pulmonary fibrosisHP:0040282 - Frequent77
HP:0012735HP:0012735Cough0SCNN1A CL E G H633710599ORPHA:171876Generalized pseudohypoaldosteronism type 1HP:0040283 - Occasional67
HP:0012735HP:0012735Cough0SCNN1A CL E G H633710599ORPHA:60033Idiopathic bronchiectasis67
HP:0012735HP:0012735Cough0SCNN1B CL E G H633810600ORPHA:171876Generalized pseudohypoaldosteronism type 1HP:0040283 - Occasional61
HP:0012735HP:0012735Cough0SCNN1B CL E G H633810600ORPHA:60033Idiopathic bronchiectasis61
HP:0012735HP:0012735Cough0SCNN1G CL E G H634010602ORPHA:171876Generalized pseudohypoaldosteronism type 1HP:0040283 - Occasional57
HP:0012735HP:0012735Cough0SCNN1G CL E G H634010602ORPHA:60033Idiopathic bronchiectasis57
HP:0012735HP:0012735Cough0SERPINA1 CL E G H52658941OMIM:613490Alpha-1-Antitrypsin deficiency131
HP:0012735HP:0012735Cough0SFTPA1 CL E G H65350910798ORPHA:2032Idiopathic pulmonary fibrosisHP:0040282 - Frequent19
HP:0012735HP:0012735Cough0SFTPA1 CL E G H65350910798OMIM:619611INTERSTITIAL LUNG DISEASE 1; ILD119
HP:0012735HP:0012735Cough0SFTPA2 CL E G H72923810799ORPHA:2032Idiopathic pulmonary fibrosisHP:0040282 - Frequent10
HP:0012735HP:0012735Cough0SFTPA2 CL E G H72923810799OMIM:178500Pulmonary fibrosis, idiopathic10
HP:0012735HP:0012735Cough0SFTPC CL E G H644010802ORPHA:2032Idiopathic pulmonary fibrosisHP:0040282 - Frequent33
HP:0012735HP:0012735Cough0SFTPC CL E G H644010802OMIM:178500Pulmonary fibrosis, idiopathic33
HP:0012735HP:0012735Cough0SFTPC CL E G H644010802OMIM:610913Surfactant metabolism dysfunction, pulmonary, 233
HP:0012735HP:0012735Cough0SLC11A1 CL E G H655610907ORPHA:3389TuberculosisHP:0040282 - Frequent2
HP:0012735HP:0012735Cough0SLC34A2 CL E G H1056811020ORPHA:60025Pulmonary alveolar microlithiasis7
HP:0012735HP:0012735Cough0SLC41A1 CL E G H25442819429OMIM:619468NEPHRONOPHTHISIS-LIKE NEPHROPATHY 2; NPHPL2
HP:0012735HP:0012735Cough0SP110 CL E G H34315401ORPHA:79124Hepatic veno-occlusive disease-immunodeficiency syndromeHP:0040282 - Frequent49
HP:0012735HP:0012735Cough0SPAG1 CL E G H667411212ORPHA:244Primary ciliary dyskinesia45
HP:0012735HP:0012735Cough0SPEF2 CL E G H7992526293ORPHA:244Primary ciliary dyskinesia15
HP:0012735HP:0012735Cough0SPTLC1 CL E G H1055811277ORPHA:36386Hereditary sensory and autonomic neuropathy type 1HP:0040283 - Occasional54
HP:0012735HP:0012735Cough0SPTLC2 CL E G H951711278ORPHA:36386Hereditary sensory and autonomic neuropathy type 1HP:0040283 - Occasional149
HP:0012735HP:0012735Cough0STAT1 CL E G H677211362OMIM:614162Immunodeficiency 31C89
HP:0012735HP:0012735Cough0STAT3 CL E G H677411364ORPHA:520Acute promyelocytic leukemia110
HP:0012735HP:0012735Cough0STAT3 CL E G H677411364ORPHA:2314Autosomal dominant hyper-IgE syndromeHP:0040282 - Frequent110
HP:0012735HP:0012735Cough0STAT5B CL E G H677711367ORPHA:520Acute promyelocytic leukemia12
HP:0012735HP:0012735Cough0STK36 CL E G H2714817209ORPHA:244Primary ciliary dyskinesia3
HP:0012735HP:0012735Cough0STN1 CL E G H7999126200ORPHA:2032Idiopathic pulmonary fibrosisHP:0040282 - Frequent2
HP:0012735HP:0012735Cough0TBL1XR1 CL E G H7971829529ORPHA:520Acute promyelocytic leukemia22
HP:0012735HP:0012735Cough0TCF3 CL E G H692911633ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent2
HP:0012735HP:0012735Cough0TERC CL E G H701211727ORPHA:2032Idiopathic pulmonary fibrosisHP:0040282 - Frequent48
HP:0012735HP:0012735Cough0TERT CL E G H701511730ORPHA:2032Idiopathic pulmonary fibrosisHP:0040282 - Frequent238
HP:0012735HP:0012735Cough0TERT CL E G H701511730OMIM:614742PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1238
HP:0012735HP:0012735Cough0TERT CL E G H701511730OMIM:178500Pulmonary fibrosis, idiopathic238
HP:0012735HP:0012735Cough0TFG CL E G H1034211758ORPHA:90117Hereditary motor and sensory neuropathy, Okinawa typeHP:0040281 - Very frequent18
HP:0012735HP:0012735Cough0TGFBR2 CL E G H704811773ORPHA:99977Squamous cell carcinoma of the esophagusHP:0040282 - Frequent253
HP:0012735HP:0012735Cough0TRAF3IP2 CL E G H107581343ORPHA:1334Chronic mucocutaneous candidiasisHP:0040283 - Occasional4
HP:0012735HP:0012735Cough0TSC1 CL E G H724812362ORPHA:538LymphangioleiomyomatosisHP:0040281 - Very frequent1090
HP:0012735HP:0012735Cough0TSC2 CL E G H724912363ORPHA:538LymphangioleiomyomatosisHP:0040281 - Very frequent2738
HP:0012735HP:0012735Cough0TTC12 CL E G H5497023700ORPHA:244Primary ciliary dyskinesia
HP:0012735HP:0012735Cough0WWOX CL E G H5174112799ORPHA:99977Squamous cell carcinoma of the esophagusHP:0040282 - Frequent149
HP:0012735HP:0012735Cough0ZBTB16 CL E G H770412930ORPHA:520Acute promyelocytic leukemia1
HP:0012735HP:0012735Cough0ZMYND10 CL E G H5136419412ORPHA:244Primary ciliary dyskinesia20
HP:0012735HP:0034315Chronic cough1 CL E G H
HP:0012735HP:0033121Barking cough1 CL E G H
HP:0012735HP:0031247Whooping cough1 CL E G H
HP:0012735HP:0031245Productive cough1BCOR CL E G H5488020893ORPHA:520Acute promyelocytic leukemiaHP:0040283 - Occasional101
HP:0012735HP:0031245Productive cough1CCDC103 CL E G H38838932700ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent36
HP:0012735HP:0031245Productive cough1CCDC39 CL E G H33982925244ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent126
HP:0012735HP:0031245Productive cough1CCDC40 CL E G H5503626090ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent182
HP:0012735HP:0031245Productive cough1CCDC65 CL E G H8547829937ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent23
HP:0012735HP:0031245Productive cough1CCNO CL E G H1030918576ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent23
HP:0012735HP:0031245Productive cough1CFAP221 CL E G H20037333720ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent
HP:0012735HP:0031245Productive cough1CFAP298 CL E G H566831301ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent
HP:0012735HP:0031245Productive cough1CFAP300 CL E G H8501628188ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent
HP:0012735HP:0031245Productive cough1CFTR CL E G H10801884ORPHA:60033Idiopathic bronchiectasisHP:0040281 - Very frequent1371
HP:0012735HP:0031245Productive cough1DNAAF1 CL E G H12387230539ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent116
HP:0012735HP:0031245Productive cough1DNAAF11 CL E G H2363916725ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent
HP:0012735HP:0031245Productive cough1DNAAF2 CL E G H5517220188ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent78
HP:0012735HP:0031245Productive cough1DNAAF3 CL E G H35290930492ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent63
HP:0012735HP:0031245Productive cough1DNAAF4 CL E G H16158221493ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent27
HP:0012735HP:0031245Productive cough1DNAAF5 CL E G H5491926013ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent62
HP:0012735HP:0031245Productive cough1DNAAF6 CL E G H13921228570ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent
HP:0012735HP:0031245Productive cough1DNAH1 CL E G H259812940ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent21
HP:0012735HP:0031245Productive cough1DNAH11 CL E G H87012942ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent542
HP:0012735HP:0031245Productive cough1DNAH5 CL E G H17672950ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent527
HP:0012735HP:0031245Productive cough1DNAH9 CL E G H17702953ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent18
HP:0012735HP:0031245Productive cough1DNAI1 CL E G H270192954ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent73
HP:0012735HP:0031245Productive cough1DNAI2 CL E G H6444618744ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent104
HP:0012735HP:0031245Productive cough1DNAJB13 CL E G H37440730718ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent2
HP:0012735HP:0031245Productive cough1DNAL1 CL E G H8354423247ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent167
HP:0012735HP:0031245Productive cough1DRC1 CL E G H9274924245ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent44
HP:0012735HP:0031245Productive cough1FIP1L1 CL E G H8160819124ORPHA:520Acute promyelocytic leukemiaHP:0040283 - Occasional4
HP:0012735HP:0031245Productive cough1FOXJ1 CL E G H23023816OMIM:618699CILIARY DYSKINESIA, PRIMARY, 43; CILD43
HP:0012735HP:0031245Productive cough1FOXJ1 CL E G H23023816ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent
HP:0012735HP:0031245Productive cough1GAS2L2 CL E G H24617624846ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent1
HP:0012735HP:0031245Productive cough1GAS8 CL E G H26224166ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent9
HP:0012735HP:0031245Productive cough1HYDIN CL E G H5476819368ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent21
HP:0012735HP:0031245Productive cough1IRF2BP2 CL E G H35994821729ORPHA:520Acute promyelocytic leukemiaHP:0040283 - Occasional4
HP:0012735HP:0031245Productive cough1LRRC56 CL E G H11539925430ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent
HP:0012735HP:0031245Productive cough1MCIDAS CL E G H34564340050ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent13
HP:0012735HP:0033362Recurrent coughing spasms1MPZ CL E G H43597225OMIM:607736Charcot-Marie-Tooth disease, type 2J134
HP:0012735HP:0031245Productive cough1NABP1 CL E G H6485926232ORPHA:520Acute promyelocytic leukemiaHP:0040283 - Occasional
HP:0012735HP:0031245Productive cough1NEK10 CL E G H15211018592ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent
HP:0012735HP:0031245Productive cough1NME8 CL E G H5131416473ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent50
HP:0012735HP:0031245Productive cough1NPM1 CL E G H48697910ORPHA:520Acute promyelocytic leukemiaHP:0040283 - Occasional12
HP:0012735HP:0031245Productive cough1NUMA1 CL E G H49268059ORPHA:520Acute promyelocytic leukemiaHP:0040283 - Occasional
HP:0012735HP:0031245Productive cough1ODAD1 CL E G H9323326560ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent
HP:0012735HP:0031245Productive cough1ODAD2 CL E G H5513025583OMIM:615451CILIARY DYSKINESIA, PRIMARY, 23; CILD23
HP:0012735HP:0031245Productive cough1ODAD2 CL E G H5513025583ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent
HP:0012735HP:0031245Productive cough1ODAD3 CL E G H11594828303ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent
HP:0012735HP:0031245Productive cough1ODAD4 CL E G H8353825280ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent
HP:0012735HP:0031245Productive cough1OFD1 CL E G H84812567ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent201
HP:0012735HP:0031245Productive cough1PML CL E G H53719113ORPHA:520Acute promyelocytic leukemiaHP:0040283 - Occasional3
HP:0012735HP:0031245Productive cough1PRKAR1A CL E G H55739388ORPHA:520Acute promyelocytic leukemiaHP:0040283 - Occasional134
HP:0012735HP:0031245Productive cough1RARA CL E G H59149864ORPHA:520Acute promyelocytic leukemiaHP:0040283 - Occasional2
HP:0012735HP:0031245Productive cough1RPGR CL E G H610310295ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent200
HP:0012735HP:0031245Productive cough1RSPH1 CL E G H8976512371ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent31
HP:0012735HP:0031245Productive cough1RSPH3 CL E G H8386121054ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent5
HP:0012735HP:0031245Productive cough1RSPH4A CL E G H34589521558ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent58
HP:0012735HP:0031245Productive cough1RSPH9 CL E G H22142121057ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent20
HP:0012735HP:0031245Productive cough1SCNN1A CL E G H633710599ORPHA:60033Idiopathic bronchiectasisHP:0040281 - Very frequent67
HP:0012735HP:0031245Productive cough1SCNN1B CL E G H633810600ORPHA:60033Idiopathic bronchiectasisHP:0040281 - Very frequent61
HP:0012735HP:0031245Productive cough1SCNN1G CL E G H634010602ORPHA:60033Idiopathic bronchiectasisHP:0040281 - Very frequent57
HP:0012735HP:0031246Nonproductive cough1SLC34A2 CL E G H1056811020ORPHA:60025Pulmonary alveolar microlithiasisHP:0040282 - Frequent7
HP:0012735HP:0031245Productive cough1SPAG1 CL E G H667411212ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent45
HP:0012735HP:0031245Productive cough1SPEF2 CL E G H7992526293ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent15
HP:0012735HP:0031245Productive cough1STAT3 CL E G H677411364ORPHA:520Acute promyelocytic leukemiaHP:0040283 - Occasional110
HP:0012735HP:0031245Productive cough1STAT5B CL E G H677711367ORPHA:520Acute promyelocytic leukemiaHP:0040283 - Occasional12
HP:0012735HP:0031245Productive cough1STK36 CL E G H2714817209ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent3
HP:0012735HP:0031245Productive cough1TBL1XR1 CL E G H7971829529ORPHA:520Acute promyelocytic leukemiaHP:0040283 - Occasional22
HP:0012735HP:0031245Productive cough1TTC12 CL E G H5497023700ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent
HP:0012735HP:0031245Productive cough1ZBTB16 CL E G H770412930ORPHA:520Acute promyelocytic leukemiaHP:0040283 - Occasional1
HP:0012735HP:0031245Productive cough1ZMYND10 CL E G H5136419412ORPHA:244Primary ciliary dyskinesiaHP:0040282 - Frequent20


Genes (151) :ABCA3 ACAT1 ATL1 ATL3 ATP11A BAP1 BCOR BLNK BMPR2 BTNL2 CCDC103 CCDC39 CCDC40 CCDC65 CCNO CD79A CD79B CFAP221 CFAP298 CFAP300 CFAP52 CFTR CLEC7A COL4A5 COL4A6 COPA CRLF1 CSF2RA CSF2RB CTLA4 CYBB CYTB DLEC1 DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB13 DNAL1 DNASE1L3 DPP9 DRC1 DSP EIF2AK4 EPOR FAM13A FARSA FARSB FIP1L1 FOCAD FOXJ1 GAS2L2 GAS8 GBA1 HLA-B HLA-DPA1 HLA-DPB1 HLA-DQA1 HLA-DQB1 HLA-DRB1 HYDIN IGHM IGLL1 IKZF1 IL17F IL17RA IL17RC IL2RG IRF2BP2 IRF4 LPIN2 LRRC56 LRRC8A MARS1 MCIDAS MPZ MUC5B NABP1 NEK10 NKX2-1 NME8 NOS1 NPM1 NUMA1 ODAD1 ODAD2 ODAD3 ODAD4 OFD1 P4HA2 PANK2 PARN PIK3R1 PML PMP22 POMT1 PRIM1 PRKAR1A PRTN3 PTPN22 RARA RFC1 RNF6 RPGR RSPH1 RSPH3 RSPH4A RSPH9 RTEL1 SCNN1A SCNN1B SCNN1G SERPINA1 SFTPA1 SFTPA2 SFTPC SLC11A1 SLC34A2 SLC41A1 SP110 SPAG1 SPEF2 SPTLC1 SPTLC2 STAT1 STAT3 STAT5B STK36 STN1 TBL1XR1 TCF3 TERC TERT TFG TGFBR2 TRAF3IP2 TSC1 TSC2 TTC12 WWOX ZBTB16 ZMYND10

Diseases (74) :ORPHA:2032 OMIM:610921 ORPHA:134 ORPHA:36386 ORPHA:50251 ORPHA:520 ORPHA:33110 OMIM:178600 ORPHA:797 OMIM:614679 ORPHA:244 OMIM:613807 OMIM:613808 OMIM:618063 OMIM:619607 ORPHA:60033 ORPHA:1334 ORPHA:1018 OMIM:616414 ORPHA:930 ORPHA:264675 ORPHA:900 OMIM:306400 ORPHA:137675 ORPHA:99977 OMIM:300991 OMIM:611884 OMIM:618300 OMIM:612444 ORPHA:36412 OMIM:234810 ORPHA:90042 OMIM:619013 OMIM:613658 OMIM:619991 OMIM:618699 OMIM:616726 ORPHA:77260 ORPHA:397 ORPHA:36426 ORPHA:133 ORPHA:747 OMIM:181000 ORPHA:276 ORPHA:3452 ORPHA:77297 OMIM:618254 OMIM:615486 OMIM:607736 OMIM:178500 OMIM:610978 OMIM:615067 OMIM:615451 OMIM:616037 OMIM:617092 ORPHA:216866 OMIM:616371 ORPHA:90658 ORPHA:86812 OMIM:620005 OMIM:614575 ORPHA:171876 OMIM:613490 OMIM:619611 OMIM:610913 ORPHA:3389 ORPHA:60025 OMIM:619468 ORPHA:79124 OMIM:614162 ORPHA:2314 OMIM:614742 ORPHA:90117 ORPHA:538
 

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