Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of the respiratory system (HP:0002086)help
Parent Node:
expand
Abnormal respiratory system physiology (HP:0002795)help
..Starting node
..expand
Dyspnea (HP:0002094)help
Term ID: 2094
Name: Dyspnea
Synonym: Abnormal breathing; Breathing difficulty; Difficult to breathe; Difficulty breathing; Dyspnoea; Panting; Shortness of breath; Trouble breathing
Definition: Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale.
Comments:
Reference: HP:0002094
Genes and Diseases:
 
       Child Nodes:
........expandRespiratory distress (HP:0002098) help
................... HP:0004885 Episodic respiratory distress
................... HP:0030863 Nasal flaring
................... HP:0030864 Intercostal retractions
........expandExertional dyspnea (HP:0002875) help
........expandParoxysmal dyspnea (HP:0012763) help
........expandOrthopnea (HP:0012764) 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
..expandCough (HP:0012735) help
..expandCyanosis (HP:0000961) help
..expandDecreased 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 entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0002094HP:0002094Dyspnea0ABCG5 CL E G H64240391665ORPHA160513886605459
HP:0002094HP:0002094Dyspnea0ABCG8 CL E G H64241391665ORPHA165913887605460
HP:0002094HP:0002094Dyspnea0ACVRL1 CL E G H94600376Hereditary hemorrhagic telangiectasia type 2600376C1838163OMIM1888175601284
HP:0002094HP:0002094Dyspnea0ANG CL E G H283803ORPHA1114483105850
HP:0002094HP:0002094Dyspnea0ANXA11 CL E G H311803ORPHA1305535602572
HP:0002094HP:0002094Dyspnea0APOB CL E G H338391665ORPHA12916603107730
HP:0002094HP:0002094Dyspnea0ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0002094HP:0002094Dyspnea0ATRX CL E G H546231401ORPHA11925886300032
HP:0002094HP:0002094Dyspnea0ATXN2 CL E G H6311803ORPHA111510555601517
HP:0002094HP:0002094Dyspnea0BMPR2 CL E G H659178600Primary pulmonary hypertension178600C0152171OMIM110281078600799
HP:0002094HP:0002094Dyspnea0BTNL2 CL E G H56244797ORPHA1301142606000
HP:0002094HP:0002094Dyspnea0C9orf72 CL E G H203228803ORPHA117728337614260
HP:0002094HP:0002094Dyspnea0CASR CL E G H846239200Neonatal severe hyperparathyroidism239200C1832615OMIM123301514601199
HP:0002094HP:0002094Dyspnea0CAV1 CL E G H857220393ORPHA11351527601047
HP:0002094HP:0002094Dyspnea0CAV1 CL E G H857615343Primary pulmonary hypertension 3615343C3809192OMIM11351527601047
HP:0002094HP:0002094Dyspnea0CCN2 CL E G H1490220393ORPHA1322500121009
HP:0002094HP:0002094Dyspnea0CCNF CL E G H899803ORPHA11511591600227
HP:0002094HP:0002094Dyspnea0CCR6 CL E G H1235220393ORPHA1651607601835
HP:0002094HP:0002094Dyspnea0CFAP410 CL E G H755803ORPHA14591260603191
HP:0002094HP:0002094Dyspnea0CHCHD10 CL E G H400916803ORPHA129715559615903
HP:0002094HP:0002094Dyspnea0CHMP2B CL E G H25978803ORPHA116024537609512
HP:0002094HP:0002094Dyspnea0CRLF1 CL E G H9244272430Cold-induced sweating syndrome 1272430C1848947OMIM11482364604237
HP:0002094HP:0002094Dyspnea0CSF2RB CL E G H1439614370Surfactant metabolism dysfunction, pulmonary, 5614370C3280574OMIM15332436138981
HP:0002094HP:0002094Dyspnea0CSPP1 CL E G H79848615636Joubert syndrome 21615636C3810212OMIM1107426193611654
HP:0002094HP:0002094Dyspnea0DAO CL E G H1610803ORPHA1652671124050
HP:0002094HP:0002094Dyspnea0DCTN1 CL E G H1639803ORPHA110842711601143
HP:0002094HP:0002094Dyspnea0DNASE1L3 CL E G H177636412ORPHA12002959602244
HP:0002094HP:0002094Dyspnea0DSC2 CL E G H1824610476Arrhythmogenic right ventricular cardiomyopathy, type 11610476C1864850OMIM114023036125645
HP:0002094HP:0002094Dyspnea0EIF2AK4 CL E G H440275234810Familial pulmonary capillary hemangiomatosis234810C0340848OMIM136119687609280
HP:0002094HP:0002094Dyspnea0ENG CL E G H2022187300Osler hemorrhagic telangiectasia syndrome187300C0039445OMIM114133349131195
HP:0002094HP:0002094Dyspnea0EPHA4 CL E G H2043803ORPHA11933388602188
HP:0002094HP:0002094Dyspnea0ERBB4 CL E G H2066803ORPHA14623432600543
HP:0002094HP:0002094Dyspnea0FBP1 CL E G H2203229700Fructose-biphosphatase deficiency229700C0016756OMIM12123606611570
HP:0002094HP:0002094Dyspnea0FIG4 CL E G H9896803ORPHA192616873609390
HP:0002094HP:0002094Dyspnea0FLNC CL E G H2318617047Cardiomyopathy, familial hypertrophic, 26617047C4310749OMIM142083756102565
HP:0002094HP:0002094Dyspnea0FUS CL E G H2521803ORPHA14744010137070
HP:0002094HP:0002094Dyspnea0GAA CL E G H2548232300Glycogen storage disease, type II232300C0017921OMIM124424065606800
HP:0002094HP:0002094Dyspnea0GBA CL E G H2629230800Gaucher's disease, type 1230800C1961835OMIM14177606463
HP:0002094HP:0002094Dyspnea0GLE1 CL E G H2733803ORPHA14754315603371
HP:0002094HP:0002094Dyspnea0HBB CL E G H3043231214ORPHA116004827141900
HP:0002094HP:0002094Dyspnea0HLA-DRB1 CL E G H3123220393ORPHA1414948142857
HP:0002094HP:0002094Dyspnea0HLA-DRB1 CL E G H3123797ORPHA1414948142857
HP:0002094HP:0002094Dyspnea0HNRNPA1 CL E G H3178803ORPHA1805031164017
HP:0002094HP:0002094Dyspnea0IRF5 CL E G H3663220393ORPHA1656120607218
HP:0002094HP:0002094Dyspnea0ISCU CL E G H23479255125Myopathy with lactic acidosis, hereditary255125C1850718OMIM116029882611911
HP:0002094HP:0002094Dyspnea0JPH2 CL E G H57158613873Familial hypertrophic cardiomyopathy 17613873C3151264OMIM177014202605267
HP:0002094HP:0002094Dyspnea0KCNJ6 CL E G H3763435628ORPHA11516267600877
HP:0002094HP:0002094Dyspnea0LAMA3 CL E G H390979404ORPHA113796483600805
HP:0002094HP:0002094Dyspnea0LAMB3 CL E G H391479404ORPHA110206490150310
HP:0002094HP:0002094Dyspnea0LAMC2 CL E G H391879404ORPHA19096493150292
HP:0002094HP:0002094Dyspnea0LDLR CL E G H3949391665ORPHA138196547606945
HP:0002094HP:0002094Dyspnea0LDLRAP1 CL E G H26119391665ORPHA143618640605747
HP:0002094HP:0002094Dyspnea0MARS CL E G H4141615486Interstitial lung and liver disease615486C4225400OMIM16898156560
HP:0002094HP:0002094Dyspnea0MATR3 CL E G H9782803ORPHA14506912164015
HP:0002094HP:0002094Dyspnea0MGME1 CL E G H92667352447ORPHA115716205615076
HP:0002094HP:0002094Dyspnea0MGME1 CL E G H92667615084Mitochondrial DNA depletion syndrome 11615084C3554462OMIM115716205615076
HP:0002094HP:0002094Dyspnea0MRPL3 CL E G H11222614582Combined oxidative phosphorylation deficiency 9614582C3281234OMIM110910379607118
HP:0002094HP:0002094Dyspnea0MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA17489590060
HP:0002094HP:0002094Dyspnea0MYL2 CL E G H4633608758Familial hypertrophic cardiomyopathy 10608758C1834460OMIM14967583160781
HP:0002094HP:0002094Dyspnea0NEFH CL E G H4744803ORPHA17147737162230
HP:0002094HP:0002094Dyspnea0NEK1 CL E G H4750803ORPHA16797744604588
HP:0002094HP:0002094Dyspnea0NPPA CL E G H4878615745Atrial standstill 2615745C3810401OMIM11827939108780
HP:0002094HP:0002094Dyspnea0OPTN CL E G H10133803ORPHA142817142602432
HP:0002094HP:0002094Dyspnea0ORC6 CL E G H23594613803Meier-Gorlin syndrome 3613803C3151113OMIM116417151607213
HP:0002094HP:0002094Dyspnea0PCSK9 CL E G H255738391665ORPHA1100020001607786
HP:0002094HP:0002094Dyspnea0PFN1 CL E G H5216803ORPHA11018881176610
HP:0002094HP:0002094Dyspnea0PIGT CL E G H51604615399Paroxysmal nocturnal hemoglobinuria 2615399C3809369OMIM127714938610272
HP:0002094HP:0002094Dyspnea0PON1 CL E G H5444803ORPHA1659204168820
HP:0002094HP:0002094Dyspnea0PON2 CL E G H5445803ORPHA1689205602447
HP:0002094HP:0002094Dyspnea0PON3 CL E G H5446803ORPHA1629206602720
HP:0002094HP:0002094Dyspnea0PPARGC1A CL E G H10891803ORPHA1719237604517
HP:0002094HP:0002094Dyspnea0PRPH CL E G H5630803ORPHA1769461170710
HP:0002094HP:0002094Dyspnea0RNU4ATAC CL E G H1001516832636Hemihypertrophy intestinal web corneal opacityORPHA126134016601428
HP:0002094HP:0002094Dyspnea0SCN5A CL E G H6331113900Progressive familial heart block type 1A113900C1879286OMIM1353110593600163
HP:0002094HP:0002094Dyspnea0SERPINA1 CL E G H5265613490Alpha-1-antitrypsin deficiency613490C0221757OMIM14238941107400
HP:0002094HP:0002094Dyspnea0SFTPB CL E G H6439265120Surfactant metabolism dysfunction, pulmonary, 1265120C1968602OMIM119510801178640
HP:0002094HP:0002094Dyspnea0SLC25A1 CL E G H6576615182Combined d-2- and l-2-hydroxyglutaric aciduria615182C2746066OMIM156810979190315
HP:0002094HP:0002094Dyspnea0SMPD1 CL E G H6609607616Niemann-Pick disease, type B607616C0268243OMIM186411120607608
HP:0002094HP:0002094Dyspnea0SOD1 CL E G H6647803ORPHA129411179147450
HP:0002094HP:0002094Dyspnea0SQSTM1 CL E G H8878803ORPHA167711280601530
HP:0002094HP:0002094Dyspnea0TAF15 CL E G H8148803ORPHA112511547601574
HP:0002094HP:0002094Dyspnea0TARDBP CL E G H23435803ORPHA130911571605078
HP:0002094HP:0002094Dyspnea0TBK1 CL E G H29110803ORPHA138211584604834
HP:0002094HP:0002094Dyspnea0TNNC1 CL E G H7134613243Familial hypertrophic cardiomyopathy 13613243C2750472OMIM130011943191040
HP:0002094HP:0002094Dyspnea0TREM2 CL E G H54209803ORPHA115417761605086
HP:0002094HP:0002094Dyspnea0TSC1 CL E G H7248538ORPHA1417212362605284
HP:0002094HP:0002094Dyspnea0TSC2 CL E G H7249538ORPHA1963812363191092
HP:0002094HP:0002094Dyspnea0UBQLN2 CL E G H29978803ORPHA127312509300264
HP:0002094HP:0002094Dyspnea0UNC13A CL E G H23025803ORPHA114023150609894
HP:0002094HP:0002094Dyspnea0VAPB CL E G H9217803ORPHA135912649605704
HP:0002094HP:0002094Dyspnea0VCL CL E G H7414613255Familial hypertrophic cardiomyopathy 15613255C2750459OMIM1117512665193065
HP:0002094HP:0002094Dyspnea0VCP CL E G H7415803ORPHA160712666601023
HP:0002094HP:0002094Dyspnea0WAS CL E G H7454906ORPHA160312731300392
HP:0002094HP:0002094Dyspnea0WIPF1 CL E G H7456906ORPHA127912736602357
HP:0002094HP:0012764Orthopnea1ABCG5 CL E G H64240391665ORPHA160513886605459
HP:0002094HP:0033710Rest dyspnea1ABCG5 CL E G H64240391665ORPHA160513886605459
HP:0002094HP:0002875Exertional dyspnea1ABCG5 CL E G H64240391665ORPHA160513886605459
HP:0002094HP:0002098Respiratory distress1ABCG5 CL E G H64240391665ORPHA160513886605459
HP:0002094HP:0033368Platypnea1ABCG5 CL E G H64240391665ORPHA160513886605459
HP:0002094HP:0012763Paroxysmal dyspnea1ABCG5 CL E G H64240391665ORPHA160513886605459
HP:0002094HP:0033368Platypnea1ABCG8 CL E G H64241391665ORPHA165913887605460
HP:0002094HP:0012763Paroxysmal dyspnea1ABCG8 CL E G H64241391665ORPHA165913887605460
HP:0002094HP:0012764Orthopnea1ABCG8 CL E G H64241391665ORPHA165913887605460
HP:0002094HP:0002875Exertional dyspnea1ABCG8 CL E G H64241391665ORPHA165913887605460
HP:0002094HP:0002098Respiratory distress1ABCG8 CL E G H64241391665ORPHA165913887605460
HP:0002094HP:0033710Rest dyspnea1ABCG8 CL E G H64241391665ORPHA165913887605460
HP:0002094HP:0033710Rest dyspnea1ACVRL1 CL E G H94600376Hereditary hemorrhagic telangiectasia type 2600376C1838163OMIM1888175601284
HP:0002094HP:0002875Exertional dyspnea1ACVRL1 CL E G H94600376Hereditary hemorrhagic telangiectasia type 2600376C1838163OMIM1888175601284
HP:0002094HP:0002098Respiratory distress1ACVRL1 CL E G H94600376Hereditary hemorrhagic telangiectasia type 2600376C1838163OMIM1888175601284
HP:0002094HP:0033368Platypnea1ACVRL1 CL E G H94600376Hereditary hemorrhagic telangiectasia type 2600376C1838163OMIM1888175601284
HP:0002094HP:0012763Paroxysmal dyspnea1ACVRL1 CL E G H94600376Hereditary hemorrhagic telangiectasia type 2600376C1838163OMIM1888175601284
HP:0002094HP:0012764Orthopnea1ACVRL1 CL E G H94600376Hereditary hemorrhagic telangiectasia type 2600376C1838163OMIM1888175601284
HP:0002094HP:0033710Rest dyspnea1ANG CL E G H283803ORPHA1114483105850
HP:0002094HP:0002875Exertional dyspnea1ANG CL E G H283803ORPHA1114483105850
HP:0002094HP:0002098Respiratory distress1ANG CL E G H283803ORPHA1114483105850
HP:0002094HP:0033368Platypnea1ANG CL E G H283803ORPHA1114483105850
HP:0002094HP:0012763Paroxysmal dyspnea1ANG CL E G H283803ORPHA1114483105850
HP:0002094HP:0012764Orthopnea1ANG CL E G H283803ORPHA1114483105850
HP:0002094HP:0012763Paroxysmal dyspnea1ANXA11 CL E G H311803ORPHA1305535602572
HP:0002094HP:0012764Orthopnea1ANXA11 CL E G H311803ORPHA1305535602572
HP:0002094HP:0002875Exertional dyspnea1ANXA11 CL E G H311803ORPHA1305535602572
HP:0002094HP:0002098Respiratory distress1ANXA11 CL E G H311803ORPHA1305535602572
HP:0002094HP:0033710Rest dyspnea1ANXA11 CL E G H311803ORPHA1305535602572
HP:0002094HP:0033368Platypnea1ANXA11 CL E G H311803ORPHA1305535602572
HP:0002094HP:0012764Orthopnea1APOB CL E G H338391665ORPHA12916603107730
HP:0002094HP:0002098Respiratory distress1APOB CL E G H338391665ORPHA12916603107730
HP:0002094HP:0033710Rest dyspnea1APOB CL E G H338391665ORPHA12916603107730
HP:0002094HP:0002875Exertional dyspnea1APOB CL E G H338391665ORPHA12916603107730
HP:0002094HP:0033368Platypnea1APOB CL E G H338391665ORPHA12916603107730
HP:0002094HP:0012763Paroxysmal dyspnea1APOB CL E G H338391665ORPHA12916603107730
HP:0002094HP:0012763Paroxysmal dyspnea1ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0002094HP:0012764Orthopnea1ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0002094HP:0002875Exertional dyspnea1ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0002094HP:0002098Respiratory distress1ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0002094HP:0033710Rest dyspnea1ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0002094HP:0033368Platypnea1ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0002094HP:0033368Platypnea1ATRX CL E G H546231401ORPHA11925886300032
HP:0002094HP:0012763Paroxysmal dyspnea1ATRX CL E G H546231401ORPHA11925886300032
HP:0002094HP:0012764Orthopnea1ATRX CL E G H546231401ORPHA11925886300032
HP:0002094HP:0002875Exertional dyspnea1ATRX CL E G H546231401ORPHA11925886300032
HP:0002094HP:0002098Respiratory distress1ATRX CL E G H546231401ORPHA11925886300032
HP:0002094HP:0033710Rest dyspnea1ATRX CL E G H546231401ORPHA11925886300032
HP:0002094HP:0033710Rest dyspnea1ATXN2 CL E G H6311803ORPHA111510555601517
HP:0002094HP:0002875Exertional dyspnea1ATXN2 CL E G H6311803ORPHA111510555601517
HP:0002094HP:0002098Respiratory distress1ATXN2 CL E G H6311803ORPHA111510555601517
HP:0002094HP:0033368Platypnea1ATXN2 CL E G H6311803ORPHA111510555601517
HP:0002094HP:0012763Paroxysmal dyspnea1ATXN2 CL E G H6311803ORPHA111510555601517
HP:0002094HP:0012764Orthopnea1ATXN2 CL E G H6311803ORPHA111510555601517
HP:0002094HP:0012763Paroxysmal dyspnea1BMPR2 CL E G H659178600Primary pulmonary hypertension178600C0152171OMIM110281078600799
HP:0002094HP:0012764Orthopnea1BMPR2 CL E G H659178600Primary pulmonary hypertension178600C0152171OMIM110281078600799
HP:0002094HP:0033710Rest dyspnea1BMPR2 CL E G H659178600Primary pulmonary hypertension178600C0152171OMIM110281078600799
HP:0002094HP:0002875Exertional dyspnea1BMPR2 CL E G H659178600Primary pulmonary hypertension178600C0152171OMIM110281078600799
HP:0002094HP:0002098Respiratory distress1BMPR2 CL E G H659178600Primary pulmonary hypertension178600C0152171OMIM110281078600799
HP:0002094HP:0033368Platypnea1BMPR2 CL E G H659178600Primary pulmonary hypertension178600C0152171OMIM110281078600799
HP:0002094HP:0033710Rest dyspnea1BTNL2 CL E G H56244797ORPHA1301142606000
HP:0002094HP:0002875Exertional dyspnea1BTNL2 CL E G H56244797ORPHA1301142606000
HP:0002094HP:0002098Respiratory distress1BTNL2 CL E G H56244797ORPHA1301142606000
HP:0002094HP:0033368Platypnea1BTNL2 CL E G H56244797ORPHA1301142606000
HP:0002094HP:0012763Paroxysmal dyspnea1BTNL2 CL E G H56244797ORPHA1301142606000
HP:0002094HP:0012764Orthopnea1BTNL2 CL E G H56244797ORPHA1301142606000
HP:0002094HP:0012763Paroxysmal dyspnea1C9orf72 CL E G H203228803ORPHA117728337614260
HP:0002094HP:0012764Orthopnea1C9orf72 CL E G H203228803ORPHA117728337614260
HP:0002094HP:0002875Exertional dyspnea1C9orf72 CL E G H203228803ORPHA117728337614260
HP:0002094HP:0002098Respiratory distress1C9orf72 CL E G H203228803ORPHA117728337614260
HP:0002094HP:0033710Rest dyspnea1C9orf72 CL E G H203228803ORPHA117728337614260
HP:0002094HP:0033368Platypnea1C9orf72 CL E G H203228803ORPHA117728337614260
HP:0002094HP:0012763Paroxysmal dyspnea1CASR CL E G H846239200Neonatal severe hyperparathyroidism239200C1832615OMIM123301514601199
HP:0002094HP:0012764Orthopnea1CASR CL E G H846239200Neonatal severe hyperparathyroidism239200C1832615OMIM123301514601199
HP:0002094HP:0002875Exertional dyspnea1CASR CL E G H846239200Neonatal severe hyperparathyroidism239200C1832615OMIM123301514601199
HP:0002094HP:0002098Respiratory distress1CASR CL E G H846239200Neonatal severe hyperparathyroidism239200C1832615OMIM123301514601199
HP:0002094HP:0033710Rest dyspnea1CASR CL E G H846239200Neonatal severe hyperparathyroidism239200C1832615OMIM123301514601199
HP:0002094HP:0033368Platypnea1CASR CL E G H846239200Neonatal severe hyperparathyroidism239200C1832615OMIM123301514601199
HP:0002094HP:0012763Paroxysmal dyspnea1CAV1 CL E G H857220393ORPHA11351527601047
HP:0002094HP:0012764Orthopnea1CAV1 CL E G H857220393ORPHA11351527601047
HP:0002094HP:0002098Respiratory distress1CAV1 CL E G H857220393ORPHA11351527601047
HP:0002094HP:0002875Exertional dyspnea1CAV1 CL E G H857220393ORPHA11351527601047
HP:0002094HP:0033710Rest dyspnea1CAV1 CL E G H857220393ORPHA11351527601047
HP:0002094HP:0033368Platypnea1CAV1 CL E G H857220393ORPHA11351527601047
HP:0002094HP:0012763Paroxysmal dyspnea1CAV1 CL E G H857615343Primary pulmonary hypertension 3615343C3809192OMIM11351527601047
HP:0002094HP:0012764Orthopnea1CAV1 CL E G H857615343Primary pulmonary hypertension 3615343C3809192OMIM11351527601047
HP:0002094HP:0033710Rest dyspnea1CAV1 CL E G H857615343Primary pulmonary hypertension 3615343C3809192OMIM11351527601047
HP:0002094HP:0002875Exertional dyspnea1CAV1 CL E G H857615343Primary pulmonary hypertension 3615343C3809192OMIM11351527601047
HP:0002094HP:0002098Respiratory distress1CAV1 CL E G H857615343Primary pulmonary hypertension 3615343C3809192OMIM11351527601047
HP:0002094HP:0033368Platypnea1CAV1 CL E G H857615343Primary pulmonary hypertension 3615343C3809192OMIM11351527601047
HP:0002094HP:0012764Orthopnea1CCN2 CL E G H1490220393ORPHA1322500121009
HP:0002094HP:0002875Exertional dyspnea1CCN2 CL E G H1490220393ORPHA1322500121009
HP:0002094HP:0002098Respiratory distress1CCN2 CL E G H1490220393ORPHA1322500121009
HP:0002094HP:0033710Rest dyspnea1CCN2 CL E G H1490220393ORPHA1322500121009
HP:0002094HP:0033368Platypnea1CCN2 CL E G H1490220393ORPHA1322500121009
HP:0002094HP:0012763Paroxysmal dyspnea1CCN2 CL E G H1490220393ORPHA1322500121009
HP:0002094HP:0002098Respiratory distress1CCNF CL E G H899803ORPHA11511591600227
HP:0002094HP:0033710Rest dyspnea1CCNF CL E G H899803ORPHA11511591600227
HP:0002094HP:0002875Exertional dyspnea1CCNF CL E G H899803ORPHA11511591600227
HP:0002094HP:0033368Platypnea1CCNF CL E G H899803ORPHA11511591600227
HP:0002094HP:0012763Paroxysmal dyspnea1CCNF CL E G H899803ORPHA11511591600227
HP:0002094HP:0012764Orthopnea1CCNF CL E G H899803ORPHA11511591600227
HP:0002094HP:0033368Platypnea1CCR6 CL E G H1235220393ORPHA1651607601835
HP:0002094HP:0012763Paroxysmal dyspnea1CCR6 CL E G H1235220393ORPHA1651607601835
HP:0002094HP:0012764Orthopnea1CCR6 CL E G H1235220393ORPHA1651607601835
HP:0002094HP:0002098Respiratory distress1CCR6 CL E G H1235220393ORPHA1651607601835
HP:0002094HP:0033710Rest dyspnea1CCR6 CL E G H1235220393ORPHA1651607601835
HP:0002094HP:0002875Exertional dyspnea1CCR6 CL E G H1235220393ORPHA1651607601835
HP:0002094HP:0012763Paroxysmal dyspnea1CFAP410 CL E G H755803ORPHA14591260603191
HP:0002094HP:0012764Orthopnea1CFAP410 CL E G H755803ORPHA14591260603191
HP:0002094HP:0002875Exertional dyspnea1CFAP410 CL E G H755803ORPHA14591260603191
HP:0002094HP:0002098Respiratory distress1CFAP410 CL E G H755803ORPHA14591260603191
HP:0002094HP:0033710Rest dyspnea1CFAP410 CL E G H755803ORPHA14591260603191
HP:0002094HP:0033368Platypnea1CFAP410 CL E G H755803ORPHA14591260603191
HP:0002094HP:0002098Respiratory distress1CHCHD10 CL E G H400916803ORPHA129715559615903
HP:0002094HP:0033710Rest dyspnea1CHCHD10 CL E G H400916803ORPHA129715559615903
HP:0002094HP:0002875Exertional dyspnea1CHCHD10 CL E G H400916803ORPHA129715559615903
HP:0002094HP:0033368Platypnea1CHCHD10 CL E G H400916803ORPHA129715559615903
HP:0002094HP:0012763Paroxysmal dyspnea1CHCHD10 CL E G H400916803ORPHA129715559615903
HP:0002094HP:0012764Orthopnea1CHCHD10 CL E G H400916803ORPHA129715559615903
HP:0002094HP:0012763Paroxysmal dyspnea1CHMP2B CL E G H25978803ORPHA116024537609512
HP:0002094HP:0012764Orthopnea1CHMP2B CL E G H25978803ORPHA116024537609512
HP:0002094HP:0002875Exertional dyspnea1CHMP2B CL E G H25978803ORPHA116024537609512
HP:0002094HP:0002098Respiratory distress1CHMP2B CL E G H25978803ORPHA116024537609512
HP:0002094HP:0033710Rest dyspnea1CHMP2B CL E G H25978803ORPHA116024537609512
HP:0002094HP:0033368Platypnea1CHMP2B CL E G H25978803ORPHA116024537609512
HP:0002094HP:0033710Rest dyspnea1CRLF1 CL E G H9244272430Cold-induced sweating syndrome 1272430C1848947OMIM11482364604237
HP:0002094HP:0002875Exertional dyspnea1CRLF1 CL E G H9244272430Cold-induced sweating syndrome 1272430C1848947OMIM11482364604237
HP:0002094HP:0002098Respiratory distress1CRLF1 CL E G H9244272430Cold-induced sweating syndrome 1272430C1848947OMIM11482364604237
HP:0002094HP:0033368Platypnea1CRLF1 CL E G H9244272430Cold-induced sweating syndrome 1272430C1848947OMIM11482364604237
HP:0002094HP:0012763Paroxysmal dyspnea1CRLF1 CL E G H9244272430Cold-induced sweating syndrome 1272430C1848947OMIM11482364604237
HP:0002094HP:0012764Orthopnea1CRLF1 CL E G H9244272430Cold-induced sweating syndrome 1272430C1848947OMIM11482364604237
HP:0002094HP:0002875Exertional dyspnea1CSF2RB CL E G H1439614370Surfactant metabolism dysfunction, pulmonary, 5614370C3280574OMIM15332436138981
HP:0002094HP:0002098Respiratory distress1CSF2RB CL E G H1439614370Surfactant metabolism dysfunction, pulmonary, 5614370C3280574OMIM15332436138981
HP:0002094HP:0033710Rest dyspnea1CSF2RB CL E G H1439614370Surfactant metabolism dysfunction, pulmonary, 5614370C3280574OMIM15332436138981
HP:0002094HP:0033368Platypnea1CSF2RB CL E G H1439614370Surfactant metabolism dysfunction, pulmonary, 5614370C3280574OMIM15332436138981
HP:0002094HP:0012763Paroxysmal dyspnea1CSF2RB CL E G H1439614370Surfactant metabolism dysfunction, pulmonary, 5614370C3280574OMIM15332436138981
HP:0002094HP:0012764Orthopnea1CSF2RB CL E G H1439614370Surfactant metabolism dysfunction, pulmonary, 5614370C3280574OMIM15332436138981
HP:0002094HP:0002875Exertional dyspnea1CSPP1 CL E G H79848615636Joubert syndrome 21615636C3810212OMIM1107426193611654
HP:0002094HP:0002098Respiratory distress1CSPP1 CL E G H79848615636Joubert syndrome 21615636C3810212OMIM1107426193611654
HP:0002094HP:0033710Rest dyspnea1CSPP1 CL E G H79848615636Joubert syndrome 21615636C3810212OMIM1107426193611654
HP:0002094HP:0033368Platypnea1CSPP1 CL E G H79848615636Joubert syndrome 21615636C3810212OMIM1107426193611654
HP:0002094HP:0012763Paroxysmal dyspnea1CSPP1 CL E G H79848615636Joubert syndrome 21615636C3810212OMIM1107426193611654
HP:0002094HP:0012764Orthopnea1CSPP1 CL E G H79848615636Joubert syndrome 21615636C3810212OMIM1107426193611654
HP:0002094HP:0002098Respiratory distress1DAO CL E G H1610803ORPHA1652671124050
HP:0002094HP:0033710Rest dyspnea1DAO CL E G H1610803ORPHA1652671124050
HP:0002094HP:0002875Exertional dyspnea1DAO CL E G H1610803ORPHA1652671124050
HP:0002094HP:0033368Platypnea1DAO CL E G H1610803ORPHA1652671124050
HP:0002094HP:0012763Paroxysmal dyspnea1DAO CL E G H1610803ORPHA1652671124050
HP:0002094HP:0012764Orthopnea1DAO CL E G H1610803ORPHA1652671124050
HP:0002094HP:0033710Rest dyspnea1DCTN1 CL E G H1639803ORPHA110842711601143
HP:0002094HP:0012763Paroxysmal dyspnea1DCTN1 CL E G H1639803ORPHA110842711601143
HP:0002094HP:0002098Respiratory distress1DCTN1 CL E G H1639803ORPHA110842711601143
HP:0002094HP:0012764Orthopnea1DCTN1 CL E G H1639803ORPHA110842711601143
HP:0002094HP:0033368Platypnea1DCTN1 CL E G H1639803ORPHA110842711601143
HP:0002094HP:0002875Exertional dyspnea1DCTN1 CL E G H1639803ORPHA110842711601143
HP:0002094HP:0012763Paroxysmal dyspnea1DNASE1L3 CL E G H177636412ORPHA12002959602244
HP:0002094HP:0012764Orthopnea1DNASE1L3 CL E G H177636412ORPHA12002959602244
HP:0002094HP:0002875Exertional dyspnea1DNASE1L3 CL E G H177636412ORPHA12002959602244
HP:0002094HP:0002098Respiratory distress1DNASE1L3 CL E G H177636412ORPHA12002959602244
HP:0002094HP:0033710Rest dyspnea1DNASE1L3 CL E G H177636412ORPHA12002959602244
HP:0002094HP:0033368Platypnea1DNASE1L3 CL E G H177636412ORPHA12002959602244
HP:0002094HP:0002098Respiratory distress1DSC2 CL E G H1824610476Arrhythmogenic right ventricular cardiomyopathy, type 11610476C1864850OMIM114023036125645
HP:0002094HP:0033710Rest dyspnea1DSC2 CL E G H1824610476Arrhythmogenic right ventricular cardiomyopathy, type 11610476C1864850OMIM114023036125645
HP:0002094HP:0002875Exertional dyspnea1DSC2 CL E G H1824610476Arrhythmogenic right ventricular cardiomyopathy, type 11610476C1864850OMIM114023036125645
HP:0002094HP:0033368Platypnea1DSC2 CL E G H1824610476Arrhythmogenic right ventricular cardiomyopathy, type 11610476C1864850OMIM114023036125645
HP:0002094HP:0012763Paroxysmal dyspnea1DSC2 CL E G H1824610476Arrhythmogenic right ventricular cardiomyopathy, type 11610476C1864850OMIM114023036125645
HP:0002094HP:0012764Orthopnea1DSC2 CL E G H1824610476Arrhythmogenic right ventricular cardiomyopathy, type 11610476C1864850OMIM114023036125645
HP:0002094HP:0002875Exertional dyspnea1EIF2AK4 CL E G H440275234810Familial pulmonary capillary hemangiomatosis234810C0340848OMIM136119687609280
HP:0002094HP:0002098Respiratory distress1EIF2AK4 CL E G H440275234810Familial pulmonary capillary hemangiomatosis234810C0340848OMIM136119687609280
HP:0002094HP:0033710Rest dyspnea1EIF2AK4 CL E G H440275234810Familial pulmonary capillary hemangiomatosis234810C0340848OMIM136119687609280
HP:0002094HP:0033368Platypnea1EIF2AK4 CL E G H440275234810Familial pulmonary capillary hemangiomatosis234810C0340848OMIM136119687609280
HP:0002094HP:0012763Paroxysmal dyspnea1EIF2AK4 CL E G H440275234810Familial pulmonary capillary hemangiomatosis234810C0340848OMIM136119687609280
HP:0002094HP:0012764Orthopnea1EIF2AK4 CL E G H440275234810Familial pulmonary capillary hemangiomatosis234810C0340848OMIM136119687609280
HP:0002094HP:0002875Exertional dyspnea1ENG CL E G H2022187300Osler hemorrhagic telangiectasia syndrome187300C0039445OMIM114133349131195
HP:0002094HP:0002098Respiratory distress1ENG CL E G H2022187300Osler hemorrhagic telangiectasia syndrome187300C0039445OMIM114133349131195
HP:0002094HP:0033710Rest dyspnea1ENG CL E G H2022187300Osler hemorrhagic telangiectasia syndrome187300C0039445OMIM114133349131195
HP:0002094HP:0033368Platypnea1ENG CL E G H2022187300Osler hemorrhagic telangiectasia syndrome187300C0039445OMIM114133349131195
HP:0002094HP:0012763Paroxysmal dyspnea1ENG CL E G H2022187300Osler hemorrhagic telangiectasia syndrome187300C0039445OMIM114133349131195
HP:0002094HP:0012764Orthopnea1ENG CL E G H2022187300Osler hemorrhagic telangiectasia syndrome187300C0039445OMIM114133349131195
HP:0002094HP:0012763Paroxysmal dyspnea1EPHA4 CL E G H2043803ORPHA11933388602188
HP:0002094HP:0012764Orthopnea1EPHA4 CL E G H2043803ORPHA11933388602188
HP:0002094HP:0002875Exertional dyspnea1EPHA4 CL E G H2043803ORPHA11933388602188
HP:0002094HP:0002098Respiratory distress1EPHA4 CL E G H2043803ORPHA11933388602188
HP:0002094HP:0033710Rest dyspnea1EPHA4 CL E G H2043803ORPHA11933388602188
HP:0002094HP:0033368Platypnea1EPHA4 CL E G H2043803ORPHA11933388602188
HP:0002094HP:0033710Rest dyspnea1ERBB4 CL E G H2066803ORPHA14623432600543
HP:0002094HP:0002875Exertional dyspnea1ERBB4 CL E G H2066803ORPHA14623432600543
HP:0002094HP:0002098Respiratory distress1ERBB4 CL E G H2066803ORPHA14623432600543
HP:0002094HP:0033368Platypnea1ERBB4 CL E G H2066803ORPHA14623432600543
HP:0002094HP:0012763Paroxysmal dyspnea1ERBB4 CL E G H2066803ORPHA14623432600543
HP:0002094HP:0012764Orthopnea1ERBB4 CL E G H2066803ORPHA14623432600543
HP:0002094HP:0012763Paroxysmal dyspnea1FBP1 CL E G H2203229700Fructose-biphosphatase deficiency229700C0016756OMIM12123606611570
HP:0002094HP:0012764Orthopnea1FBP1 CL E G H2203229700Fructose-biphosphatase deficiency229700C0016756OMIM12123606611570
HP:0002094HP:0002098Respiratory distress1FBP1 CL E G H2203229700Fructose-biphosphatase deficiency229700C0016756OMIM12123606611570
HP:0002094HP:0033710Rest dyspnea1FBP1 CL E G H2203229700Fructose-biphosphatase deficiency229700C0016756OMIM12123606611570
HP:0002094HP:0002875Exertional dyspnea1FBP1 CL E G H2203229700Fructose-biphosphatase deficiency229700C0016756OMIM12123606611570
HP:0002094HP:0033368Platypnea1FBP1 CL E G H2203229700Fructose-biphosphatase deficiency229700C0016756OMIM12123606611570
HP:0002094HP:0012763Paroxysmal dyspnea1FIG4 CL E G H9896803ORPHA192616873609390
HP:0002094HP:0012764Orthopnea1FIG4 CL E G H9896803ORPHA192616873609390
HP:0002094HP:0002875Exertional dyspnea1FIG4 CL E G H9896803ORPHA192616873609390
HP:0002094HP:0002098Respiratory distress1FIG4 CL E G H9896803ORPHA192616873609390
HP:0002094HP:0033710Rest dyspnea1FIG4 CL E G H9896803ORPHA192616873609390
HP:0002094HP:0033368Platypnea1FIG4 CL E G H9896803ORPHA192616873609390
HP:0002094HP:0002875Exertional dyspnea1FLNC CL E G H2318617047Cardiomyopathy, familial hypertrophic, 26617047C4310749OMIM142083756102565
HP:0002094HP:0002098Respiratory distress1FLNC CL E G H2318617047Cardiomyopathy, familial hypertrophic, 26617047C4310749OMIM142083756102565
HP:0002094HP:0033710Rest dyspnea1FLNC CL E G H2318617047Cardiomyopathy, familial hypertrophic, 26617047C4310749OMIM142083756102565
HP:0002094HP:0033368Platypnea1FLNC CL E G H2318617047Cardiomyopathy, familial hypertrophic, 26617047C4310749OMIM142083756102565
HP:0002094HP:0012763Paroxysmal dyspnea1FLNC CL E G H2318617047Cardiomyopathy, familial hypertrophic, 26617047C4310749OMIM142083756102565
HP:0002094HP:0012764Orthopnea1FLNC CL E G H2318617047Cardiomyopathy, familial hypertrophic, 26617047C4310749OMIM142083756102565
HP:0002094HP:0002098Respiratory distress1FUS CL E G H2521803ORPHA14744010137070
HP:0002094HP:0033710Rest dyspnea1FUS CL E G H2521803ORPHA14744010137070
HP:0002094HP:0002875Exertional dyspnea1FUS CL E G H2521803ORPHA14744010137070
HP:0002094HP:0033368Platypnea1FUS CL E G H2521803ORPHA14744010137070
HP:0002094HP:0012763Paroxysmal dyspnea1FUS CL E G H2521803ORPHA14744010137070
HP:0002094HP:0012764Orthopnea1FUS CL E G H2521803ORPHA14744010137070
HP:0002094HP:0012763Paroxysmal dyspnea1GAA CL E G H2548232300Glycogen storage disease, type II232300C0017921OMIM124424065606800
HP:0002094HP:0012764Orthopnea1GAA CL E G H2548232300Glycogen storage disease, type II232300C0017921OMIM124424065606800
HP:0002094HP:0002098Respiratory distress1GAA CL E G H2548232300Glycogen storage disease, type II232300C0017921OMIM124424065606800
HP:0002094HP:0033710Rest dyspnea1GAA CL E G H2548232300Glycogen storage disease, type II232300C0017921OMIM124424065606800
HP:0002094HP:0002875Exertional dyspnea1GAA CL E G H2548232300Glycogen storage disease, type II232300C0017921OMIM124424065606800
HP:0002094HP:0033368Platypnea1GAA CL E G H2548232300Glycogen storage disease, type II232300C0017921OMIM124424065606800
HP:0002094HP:0002875Exertional dyspnea1GBA CL E G H2629230800Gaucher's disease, type 1230800C1961835OMIM14177606463
HP:0002094HP:0002098Respiratory distress1GBA CL E G H2629230800Gaucher's disease, type 1230800C1961835OMIM14177606463
HP:0002094HP:0033710Rest dyspnea1GBA CL E G H2629230800Gaucher's disease, type 1230800C1961835OMIM14177606463
HP:0002094HP:0033368Platypnea1GBA CL E G H2629230800Gaucher's disease, type 1230800C1961835OMIM14177606463
HP:0002094HP:0012763Paroxysmal dyspnea1GBA CL E G H2629230800Gaucher's disease, type 1230800C1961835OMIM14177606463
HP:0002094HP:0012764Orthopnea1GBA CL E G H2629230800Gaucher's disease, type 1230800C1961835OMIM14177606463
HP:0002094HP:0012763Paroxysmal dyspnea1GLE1 CL E G H2733803ORPHA14754315603371
HP:0002094HP:0012764Orthopnea1GLE1 CL E G H2733803ORPHA14754315603371
HP:0002094HP:0002875Exertional dyspnea1GLE1 CL E G H2733803ORPHA14754315603371
HP:0002094HP:0002098Respiratory distress1GLE1 CL E G H2733803ORPHA14754315603371
HP:0002094HP:0033710Rest dyspnea1GLE1 CL E G H2733803ORPHA14754315603371
HP:0002094HP:0033368Platypnea1GLE1 CL E G H2733803ORPHA14754315603371
HP:0002094HP:0012764Orthopnea1HBB CL E G H3043231214ORPHA116004827141900
HP:0002094HP:0033710Rest dyspnea1HBB CL E G H3043231214ORPHA116004827141900
HP:0002094HP:0002875Exertional dyspnea1HBB CL E G H3043231214ORPHA116004827141900
HP:0002094HP:0002098Respiratory distress1HBB CL E G H3043231214ORPHA116004827141900
HP:0002094HP:0033368Platypnea1HBB CL E G H3043231214ORPHA116004827141900
HP:0002094HP:0012763Paroxysmal dyspnea1HBB CL E G H3043231214ORPHA116004827141900
HP:0002094HP:0012764Orthopnea1HLA-DRB1 CL E G H3123220393ORPHA1414948142857
HP:0002094HP:0012763Paroxysmal dyspnea1HLA-DRB1 CL E G H3123797ORPHA1414948142857
HP:0002094HP:0002875Exertional dyspnea1HLA-DRB1 CL E G H3123220393ORPHA1414948142857
HP:0002094HP:0002098Respiratory distress1HLA-DRB1 CL E G H3123220393ORPHA1414948142857
HP:0002094HP:0033710Rest dyspnea1HLA-DRB1 CL E G H3123220393ORPHA1414948142857
HP:0002094HP:0012764Orthopnea1HLA-DRB1 CL E G H3123797ORPHA1414948142857
HP:0002094HP:0033368Platypnea1HLA-DRB1 CL E G H3123220393ORPHA1414948142857
HP:0002094HP:0002875Exertional dyspnea1HLA-DRB1 CL E G H3123797ORPHA1414948142857
HP:0002094HP:0002098Respiratory distress1HLA-DRB1 CL E G H3123797ORPHA1414948142857
HP:0002094HP:0033710Rest dyspnea1HLA-DRB1 CL E G H3123797ORPHA1414948142857
HP:0002094HP:0012763Paroxysmal dyspnea1HLA-DRB1 CL E G H3123220393ORPHA1414948142857
HP:0002094HP:0033368Platypnea1HLA-DRB1 CL E G H3123797ORPHA1414948142857
HP:0002094HP:0002098Respiratory distress1HNRNPA1 CL E G H3178803ORPHA1805031164017
HP:0002094HP:0033710Rest dyspnea1HNRNPA1 CL E G H3178803ORPHA1805031164017
HP:0002094HP:0002875Exertional dyspnea1HNRNPA1 CL E G H3178803ORPHA1805031164017
HP:0002094HP:0033368Platypnea1HNRNPA1 CL E G H3178803ORPHA1805031164017
HP:0002094HP:0012763Paroxysmal dyspnea1HNRNPA1 CL E G H3178803ORPHA1805031164017
HP:0002094HP:0012764Orthopnea1HNRNPA1 CL E G H3178803ORPHA1805031164017
HP:0002094HP:0033368Platypnea1IRF5 CL E G H3663220393ORPHA1656120607218
HP:0002094HP:0012763Paroxysmal dyspnea1IRF5 CL E G H3663220393ORPHA1656120607218
HP:0002094HP:0012764Orthopnea1IRF5 CL E G H3663220393ORPHA1656120607218
HP:0002094HP:0002875Exertional dyspnea1IRF5 CL E G H3663220393ORPHA1656120607218
HP:0002094HP:0002098Respiratory distress1IRF5 CL E G H3663220393ORPHA1656120607218
HP:0002094HP:0033710Rest dyspnea1IRF5 CL E G H3663220393ORPHA1656120607218
HP:0002094HP:0002875Exertional dyspnea1ISCU CL E G H23479255125Myopathy with lactic acidosis, hereditary255125C1850718OMIM116029882611911
HP:0002094HP:0002098Respiratory distress1ISCU CL E G H23479255125Myopathy with lactic acidosis, hereditary255125C1850718OMIM116029882611911
HP:0002094HP:0033710Rest dyspnea1ISCU CL E G H23479255125Myopathy with lactic acidosis, hereditary255125C1850718OMIM116029882611911
HP:0002094HP:0033368Platypnea1ISCU CL E G H23479255125Myopathy with lactic acidosis, hereditary255125C1850718OMIM116029882611911
HP:0002094HP:0012763Paroxysmal dyspnea1ISCU CL E G H23479255125Myopathy with lactic acidosis, hereditary255125C1850718OMIM116029882611911
HP:0002094HP:0012764Orthopnea1ISCU CL E G H23479255125Myopathy with lactic acidosis, hereditary255125C1850718OMIM116029882611911
HP:0002094HP:0012763Paroxysmal dyspnea1JPH2 CL E G H57158613873Familial hypertrophic cardiomyopathy 17613873C3151264OMIM177014202605267
HP:0002094HP:0012764Orthopnea1JPH2 CL E G H57158613873Familial hypertrophic cardiomyopathy 17613873C3151264OMIM177014202605267
HP:0002094HP:0002875Exertional dyspnea1JPH2 CL E G H57158613873Familial hypertrophic cardiomyopathy 17613873C3151264OMIM177014202605267
HP:0002094HP:0002098Respiratory distress1JPH2 CL E G H57158613873Familial hypertrophic cardiomyopathy 17613873C3151264OMIM177014202605267
HP:0002094HP:0033710Rest dyspnea1JPH2 CL E G H57158613873Familial hypertrophic cardiomyopathy 17613873C3151264OMIM177014202605267
HP:0002094HP:0033368Platypnea1JPH2 CL E G H57158613873Familial hypertrophic cardiomyopathy 17613873C3151264OMIM177014202605267
HP:0002094HP:0033368Platypnea1KCNJ6 CL E G H3763435628ORPHA11516267600877
HP:0002094HP:0012763Paroxysmal dyspnea1KCNJ6 CL E G H3763435628ORPHA11516267600877
HP:0002094HP:0012764Orthopnea1KCNJ6 CL E G H3763435628ORPHA11516267600877
HP:0002094HP:0002875Exertional dyspnea1KCNJ6 CL E G H3763435628ORPHA11516267600877
HP:0002094HP:0002098Respiratory distress1KCNJ6 CL E G H3763435628ORPHA11516267600877
HP:0002094HP:0033710Rest dyspnea1KCNJ6 CL E G H3763435628ORPHA11516267600877
HP:0002094HP:0012763Paroxysmal dyspnea1LAMA3 CL E G H390979404ORPHA113796483600805
HP:0002094HP:0012764Orthopnea1LAMA3 CL E G H390979404ORPHA113796483600805
HP:0002094HP:0002875Exertional dyspnea1LAMA3 CL E G H390979404ORPHA113796483600805
HP:0002094HP:0002098Respiratory distress1LAMA3 CL E G H390979404ORPHA113796483600805
HP:0002094HP:0033710Rest dyspnea1LAMA3 CL E G H390979404ORPHA113796483600805
HP:0002094HP:0033368Platypnea1LAMA3 CL E G H390979404ORPHA113796483600805
HP:0002094HP:0002875Exertional dyspnea1LAMB3 CL E G H391479404ORPHA110206490150310
HP:0002094HP:0002098Respiratory distress1LAMB3 CL E G H391479404ORPHA110206490150310
HP:0002094HP:0033710Rest dyspnea1LAMB3 CL E G H391479404ORPHA110206490150310
HP:0002094HP:0033368Platypnea1LAMB3 CL E G H391479404ORPHA110206490150310
HP:0002094HP:0012763Paroxysmal dyspnea1LAMB3 CL E G H391479404ORPHA110206490150310
HP:0002094HP:0012764Orthopnea1LAMB3 CL E G H391479404ORPHA110206490150310
HP:0002094HP:0012763Paroxysmal dyspnea1LAMC2 CL E G H391879404ORPHA19096493150292
HP:0002094HP:0012764Orthopnea1LAMC2 CL E G H391879404ORPHA19096493150292
HP:0002094HP:0002875Exertional dyspnea1LAMC2 CL E G H391879404ORPHA19096493150292
HP:0002094HP:0002098Respiratory distress1LAMC2 CL E G H391879404ORPHA19096493150292
HP:0002094HP:0033710Rest dyspnea1LAMC2 CL E G H391879404ORPHA19096493150292
HP:0002094HP:0033368Platypnea1LAMC2 CL E G H391879404ORPHA19096493150292
HP:0002094HP:0033368Platypnea1LDLR CL E G H3949391665ORPHA138196547606945
HP:0002094HP:0012763Paroxysmal dyspnea1LDLR CL E G H3949391665ORPHA138196547606945
HP:0002094HP:0012764Orthopnea1LDLR CL E G H3949391665ORPHA138196547606945
HP:0002094HP:0002875Exertional dyspnea1LDLR CL E G H3949391665ORPHA138196547606945
HP:0002094HP:0002098Respiratory distress1LDLR CL E G H3949391665ORPHA138196547606945
HP:0002094HP:0033710Rest dyspnea1LDLR CL E G H3949391665ORPHA138196547606945
HP:0002094HP:0012764Orthopnea1LDLRAP1 CL E G H26119391665ORPHA143618640605747
HP:0002094HP:0002098Respiratory distress1LDLRAP1 CL E G H26119391665ORPHA143618640605747
HP:0002094HP:0033710Rest dyspnea1LDLRAP1 CL E G H26119391665ORPHA143618640605747
HP:0002094HP:0002875Exertional dyspnea1LDLRAP1 CL E G H26119391665ORPHA143618640605747
HP:0002094HP:0033368Platypnea1LDLRAP1 CL E G H26119391665ORPHA143618640605747
HP:0002094HP:0012763Paroxysmal dyspnea1LDLRAP1 CL E G H26119391665ORPHA143618640605747
HP:0002094HP:0012763Paroxysmal dyspnea1MARS CL E G H4141615486Interstitial lung and liver disease615486C4225400OMIM16898156560
HP:0002094HP:0012764Orthopnea1MARS CL E G H4141615486Interstitial lung and liver disease615486C4225400OMIM16898156560
HP:0002094HP:0002098Respiratory distress1MARS CL E G H4141615486Interstitial lung and liver disease615486C4225400OMIM16898156560
HP:0002094HP:0033710Rest dyspnea1MARS CL E G H4141615486Interstitial lung and liver disease615486C4225400OMIM16898156560
HP:0002094HP:0002875Exertional dyspnea1MARS CL E G H4141615486Interstitial lung and liver disease615486C4225400OMIM16898156560
HP:0002094HP:0033368Platypnea1MARS CL E G H4141615486Interstitial lung and liver disease615486C4225400OMIM16898156560
HP:0002094HP:0012763Paroxysmal dyspnea1MATR3 CL E G H9782803ORPHA14506912164015
HP:0002094HP:0012764Orthopnea1MATR3 CL E G H9782803ORPHA14506912164015
HP:0002094HP:0002875Exertional dyspnea1MATR3 CL E G H9782803ORPHA14506912164015
HP:0002094HP:0002098Respiratory distress1MATR3 CL E G H9782803ORPHA14506912164015
HP:0002094HP:0033710Rest dyspnea1MATR3 CL E G H9782803ORPHA14506912164015
HP:0002094HP:0033368Platypnea1MATR3 CL E G H9782803ORPHA14506912164015
HP:0002094HP:0033368Platypnea1MGME1 CL E G H92667352447ORPHA115716205615076
HP:0002094HP:0012763Paroxysmal dyspnea1MGME1 CL E G H92667352447ORPHA115716205615076
HP:0002094HP:0012764Orthopnea1MGME1 CL E G H92667352447ORPHA115716205615076
HP:0002094HP:0002875Exertional dyspnea1MGME1 CL E G H92667352447ORPHA115716205615076
HP:0002094HP:0002098Respiratory distress1MGME1 CL E G H92667352447ORPHA115716205615076
HP:0002094HP:0033710Rest dyspnea1MGME1 CL E G H92667352447ORPHA115716205615076
HP:0002094HP:0012763Paroxysmal dyspnea1MGME1 CL E G H92667615084Mitochondrial DNA depletion syndrome 11615084C3554462OMIM115716205615076
HP:0002094HP:0012764Orthopnea1MGME1 CL E G H92667615084Mitochondrial DNA depletion syndrome 11615084C3554462OMIM115716205615076
HP:0002094HP:0033710Rest dyspnea1MGME1 CL E G H92667615084Mitochondrial DNA depletion syndrome 11615084C3554462OMIM115716205615076
HP:0002094HP:0002875Exertional dyspnea1MGME1 CL E G H92667615084Mitochondrial DNA depletion syndrome 11615084C3554462OMIM115716205615076
HP:0002094HP:0002098Respiratory distress1MGME1 CL E G H92667615084Mitochondrial DNA depletion syndrome 11615084C3554462OMIM115716205615076
HP:0002094HP:0033368Platypnea1MGME1 CL E G H92667615084Mitochondrial DNA depletion syndrome 11615084C3554462OMIM115716205615076
HP:0002094HP:0012763Paroxysmal dyspnea1MRPL3 CL E G H11222614582Combined oxidative phosphorylation deficiency 9614582C3281234OMIM110910379607118
HP:0002094HP:0012764Orthopnea1MRPL3 CL E G H11222614582Combined oxidative phosphorylation deficiency 9614582C3281234OMIM110910379607118
HP:0002094HP:0033710Rest dyspnea1MRPL3 CL E G H11222614582Combined oxidative phosphorylation deficiency 9614582C3281234OMIM110910379607118
HP:0002094HP:0002875Exertional dyspnea1MRPL3 CL E G H11222614582Combined oxidative phosphorylation deficiency 9614582C3281234OMIM110910379607118
HP:0002094HP:0002098Respiratory distress1MRPL3 CL E G H11222614582Combined oxidative phosphorylation deficiency 9614582C3281234OMIM110910379607118
HP:0002094HP:0033368Platypnea1MRPL3 CL E G H11222614582Combined oxidative phosphorylation deficiency 9614582C3281234OMIM110910379607118
HP:0002094HP:0012763Paroxysmal dyspnea1MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA17489590060
HP:0002094HP:0012764Orthopnea1MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA17489590060
HP:0002094HP:0002875Exertional dyspnea1MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA17489590060
HP:0002094HP:0002098Respiratory distress1MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA17489590060
HP:0002094HP:0033710Rest dyspnea1MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA17489590060
HP:0002094HP:0033368Platypnea1MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA17489590060
HP:0002094HP:0012763Paroxysmal dyspnea1MYL2 CL E G H4633608758Familial hypertrophic cardiomyopathy 10608758C1834460OMIM14967583160781
HP:0002094HP:0012764Orthopnea1MYL2 CL E G H4633608758Familial hypertrophic cardiomyopathy 10608758C1834460OMIM14967583160781
HP:0002094HP:0002875Exertional dyspnea1MYL2 CL E G H4633608758Familial hypertrophic cardiomyopathy 10608758C1834460OMIM14967583160781
HP:0002094HP:0002098Respiratory distress1MYL2 CL E G H4633608758Familial hypertrophic cardiomyopathy 10608758C1834460OMIM14967583160781
HP:0002094HP:0033710Rest dyspnea1MYL2 CL E G H4633608758Familial hypertrophic cardiomyopathy 10608758C1834460OMIM14967583160781
HP:0002094HP:0033368Platypnea1MYL2 CL E G H4633608758Familial hypertrophic cardiomyopathy 10608758C1834460OMIM14967583160781
HP:0002094HP:0002098Respiratory distress1NEFH CL E G H4744803ORPHA17147737162230
HP:0002094HP:0033710Rest dyspnea1NEFH CL E G H4744803ORPHA17147737162230
HP:0002094HP:0002875Exertional dyspnea1NEFH CL E G H4744803ORPHA17147737162230
HP:0002094HP:0033368Platypnea1NEFH CL E G H4744803ORPHA17147737162230
HP:0002094HP:0012763Paroxysmal dyspnea1NEFH CL E G H4744803ORPHA17147737162230
HP:0002094HP:0012764Orthopnea1NEFH CL E G H4744803ORPHA17147737162230
HP:0002094HP:0012763Paroxysmal dyspnea1NEK1 CL E G H4750803ORPHA16797744604588
HP:0002094HP:0012764Orthopnea1NEK1 CL E G H4750803ORPHA16797744604588
HP:0002094HP:0002875Exertional dyspnea1NEK1 CL E G H4750803ORPHA16797744604588
HP:0002094HP:0002098Respiratory distress1NEK1 CL E G H4750803ORPHA16797744604588
HP:0002094HP:0033710Rest dyspnea1NEK1 CL E G H4750803ORPHA16797744604588
HP:0002094HP:0033368Platypnea1NEK1 CL E G H4750803ORPHA16797744604588
HP:0002094HP:0012763Paroxysmal dyspnea1NPPA CL E G H4878615745Atrial standstill 2615745C3810401OMIM11827939108780
HP:0002094HP:0012764Orthopnea1NPPA CL E G H4878615745Atrial standstill 2615745C3810401OMIM11827939108780
HP:0002094HP:0002098Respiratory distress1NPPA CL E G H4878615745Atrial standstill 2615745C3810401OMIM11827939108780
HP:0002094HP:0033710Rest dyspnea1NPPA CL E G H4878615745Atrial standstill 2615745C3810401OMIM11827939108780
HP:0002094HP:0002875Exertional dyspnea1NPPA CL E G H4878615745Atrial standstill 2615745C3810401OMIM11827939108780
HP:0002094HP:0033368Platypnea1NPPA CL E G H4878615745Atrial standstill 2615745C3810401OMIM11827939108780
HP:0002094HP:0002875Exertional dyspnea1OPTN CL E G H10133803ORPHA142817142602432
HP:0002094HP:0002098Respiratory distress1OPTN CL E G H10133803ORPHA142817142602432
HP:0002094HP:0033710Rest dyspnea1OPTN CL E G H10133803ORPHA142817142602432
HP:0002094HP:0033368Platypnea1OPTN CL E G H10133803ORPHA142817142602432
HP:0002094HP:0012763Paroxysmal dyspnea1OPTN CL E G H10133803ORPHA142817142602432
HP:0002094HP:0012764Orthopnea1OPTN CL E G H10133803ORPHA142817142602432
HP:0002094HP:0002098Respiratory distress1ORC6 CL E G H23594613803Meier-Gorlin syndrome 3613803C3151113OMIM116417151607213
HP:0002094HP:0033710Rest dyspnea1ORC6 CL E G H23594613803Meier-Gorlin syndrome 3613803C3151113OMIM116417151607213
HP:0002094HP:0002875Exertional dyspnea1ORC6 CL E G H23594613803Meier-Gorlin syndrome 3613803C3151113OMIM116417151607213
HP:0002094HP:0033368Platypnea1ORC6 CL E G H23594613803Meier-Gorlin syndrome 3613803C3151113OMIM116417151607213
HP:0002094HP:0012763Paroxysmal dyspnea1ORC6 CL E G H23594613803Meier-Gorlin syndrome 3613803C3151113OMIM116417151607213
HP:0002094HP:0012764Orthopnea1ORC6 CL E G H23594613803Meier-Gorlin syndrome 3613803C3151113OMIM116417151607213
HP:0002094HP:0033368Platypnea1PCSK9 CL E G H255738391665ORPHA1100020001607786
HP:0002094HP:0012763Paroxysmal dyspnea1PCSK9 CL E G H255738391665ORPHA1100020001607786
HP:0002094HP:0012764Orthopnea1PCSK9 CL E G H255738391665ORPHA1100020001607786
HP:0002094HP:0002875Exertional dyspnea1PCSK9 CL E G H255738391665ORPHA1100020001607786
HP:0002094HP:0002098Respiratory distress1PCSK9 CL E G H255738391665ORPHA1100020001607786
HP:0002094HP:0033710Rest dyspnea1PCSK9 CL E G H255738391665ORPHA1100020001607786
HP:0002094HP:0012763Paroxysmal dyspnea1PFN1 CL E G H5216803ORPHA11018881176610
HP:0002094HP:0012764Orthopnea1PFN1 CL E G H5216803ORPHA11018881176610
HP:0002094HP:0033710Rest dyspnea1PFN1 CL E G H5216803ORPHA11018881176610
HP:0002094HP:0002875Exertional dyspnea1PFN1 CL E G H5216803ORPHA11018881176610
HP:0002094HP:0002098Respiratory distress1PFN1 CL E G H5216803ORPHA11018881176610
HP:0002094HP:0033368Platypnea1PFN1 CL E G H5216803ORPHA11018881176610
HP:0002094HP:0002875Exertional dyspnea1PIGT CL E G H51604615399Paroxysmal nocturnal hemoglobinuria 2615399C3809369OMIM127714938610272
HP:0002094HP:0002098Respiratory distress1PIGT CL E G H51604615399Paroxysmal nocturnal hemoglobinuria 2615399C3809369OMIM127714938610272
HP:0002094HP:0033710Rest dyspnea1PIGT CL E G H51604615399Paroxysmal nocturnal hemoglobinuria 2615399C3809369OMIM127714938610272
HP:0002094HP:0033368Platypnea1PIGT CL E G H51604615399Paroxysmal nocturnal hemoglobinuria 2615399C3809369OMIM127714938610272
HP:0002094HP:0012763Paroxysmal dyspnea1PIGT CL E G H51604615399Paroxysmal nocturnal hemoglobinuria 2615399C3809369OMIM127714938610272
HP:0002094HP:0012764Orthopnea1PIGT CL E G H51604615399Paroxysmal nocturnal hemoglobinuria 2615399C3809369OMIM127714938610272
HP:0002094HP:0002875Exertional dyspnea1PON1 CL E G H5444803ORPHA1659204168820
HP:0002094HP:0002098Respiratory distress1PON1 CL E G H5444803ORPHA1659204168820
HP:0002094HP:0033710Rest dyspnea1PON1 CL E G H5444803ORPHA1659204168820
HP:0002094HP:0033368Platypnea1PON1 CL E G H5444803ORPHA1659204168820
HP:0002094HP:0012763Paroxysmal dyspnea1PON1 CL E G H5444803ORPHA1659204168820
HP:0002094HP:0012764Orthopnea1PON1 CL E G H5444803ORPHA1659204168820
HP:0002094HP:0012763Paroxysmal dyspnea1PON2 CL E G H5445803ORPHA1689205602447
HP:0002094HP:0012764Orthopnea1PON2 CL E G H5445803ORPHA1689205602447
HP:0002094HP:0033710Rest dyspnea1PON2 CL E G H5445803ORPHA1689205602447
HP:0002094HP:0002875Exertional dyspnea1PON2 CL E G H5445803ORPHA1689205602447
HP:0002094HP:0002098Respiratory distress1PON2 CL E G H5445803ORPHA1689205602447
HP:0002094HP:0033368Platypnea1PON2 CL E G H5445803ORPHA1689205602447
HP:0002094HP:0002875Exertional dyspnea1PON3 CL E G H5446803ORPHA1629206602720
HP:0002094HP:0002098Respiratory distress1PON3 CL E G H5446803ORPHA1629206602720
HP:0002094HP:0033710Rest dyspnea1PON3 CL E G H5446803ORPHA1629206602720
HP:0002094HP:0033368Platypnea1PON3 CL E G H5446803ORPHA1629206602720
HP:0002094HP:0012763Paroxysmal dyspnea1PON3 CL E G H5446803ORPHA1629206602720
HP:0002094HP:0012764Orthopnea1PON3 CL E G H5446803ORPHA1629206602720
HP:0002094HP:0012763Paroxysmal dyspnea1PPARGC1A CL E G H10891803ORPHA1719237604517
HP:0002094HP:0012764Orthopnea1PPARGC1A CL E G H10891803ORPHA1719237604517
HP:0002094HP:0033710Rest dyspnea1PPARGC1A CL E G H10891803ORPHA1719237604517
HP:0002094HP:0002875Exertional dyspnea1PPARGC1A CL E G H10891803ORPHA1719237604517
HP:0002094HP:0002098Respiratory distress1PPARGC1A CL E G H10891803ORPHA1719237604517
HP:0002094HP:0033368Platypnea1PPARGC1A CL E G H10891803ORPHA1719237604517
HP:0002094HP:0002875Exertional dyspnea1PRPH CL E G H5630803ORPHA1769461170710
HP:0002094HP:0002098Respiratory distress1PRPH CL E G H5630803ORPHA1769461170710
HP:0002094HP:0033710Rest dyspnea1PRPH CL E G H5630803ORPHA1769461170710
HP:0002094HP:0033368Platypnea1PRPH CL E G H5630803ORPHA1769461170710
HP:0002094HP:0012763Paroxysmal dyspnea1PRPH CL E G H5630803ORPHA1769461170710
HP:0002094HP:0012764Orthopnea1PRPH CL E G H5630803ORPHA1769461170710
HP:0002094HP:0002098Respiratory distress1RNU4ATAC CL E G H1001516832636Hemihypertrophy intestinal web corneal opacityORPHA126134016601428
HP:0002094HP:0033710Rest dyspnea1RNU4ATAC CL E G H1001516832636Hemihypertrophy intestinal web corneal opacityORPHA126134016601428
HP:0002094HP:0002875Exertional dyspnea1RNU4ATAC CL E G H1001516832636Hemihypertrophy intestinal web corneal opacityORPHA126134016601428
HP:0002094HP:0033368Platypnea1RNU4ATAC CL E G H1001516832636Hemihypertrophy intestinal web corneal opacityORPHA126134016601428
HP:0002094HP:0012763Paroxysmal dyspnea1RNU4ATAC CL E G H1001516832636Hemihypertrophy intestinal web corneal opacityORPHA126134016601428
HP:0002094HP:0012764Orthopnea1RNU4ATAC CL E G H1001516832636Hemihypertrophy intestinal web corneal opacityORPHA126134016601428
HP:0002094HP:0002875Exertional dyspnea1SCN5A CL E G H6331113900Progressive familial heart block type 1A113900C1879286OMIM1353110593600163
HP:0002094HP:0002098Respiratory distress1SCN5A CL E G H6331113900Progressive familial heart block type 1A113900C1879286OMIM1353110593600163
HP:0002094HP:0033710Rest dyspnea1SCN5A CL E G H6331113900Progressive familial heart block type 1A113900C1879286OMIM1353110593600163
HP:0002094HP:0033368Platypnea1SCN5A CL E G H6331113900Progressive familial heart block type 1A113900C1879286OMIM1353110593600163
HP:0002094HP:0012763Paroxysmal dyspnea1SCN5A CL E G H6331113900Progressive familial heart block type 1A113900C1879286OMIM1353110593600163
HP:0002094HP:0012764Orthopnea1SCN5A CL E G H6331113900Progressive familial heart block type 1A113900C1879286OMIM1353110593600163
HP:0002094HP:0012763Paroxysmal dyspnea1SERPINA1 CL E G H5265613490Alpha-1-antitrypsin deficiency613490C0221757OMIM14238941107400
HP:0002094HP:0012764Orthopnea1SERPINA1 CL E G H5265613490Alpha-1-antitrypsin deficiency613490C0221757OMIM14238941107400
HP:0002094HP:0002875Exertional dyspnea1SERPINA1 CL E G H5265613490Alpha-1-antitrypsin deficiency613490C0221757OMIM14238941107400
HP:0002094HP:0002098Respiratory distress1SERPINA1 CL E G H5265613490Alpha-1-antitrypsin deficiency613490C0221757OMIM14238941107400
HP:0002094HP:0033710Rest dyspnea1SERPINA1 CL E G H5265613490Alpha-1-antitrypsin deficiency613490C0221757OMIM14238941107400
HP:0002094HP:0033368Platypnea1SERPINA1 CL E G H5265613490Alpha-1-antitrypsin deficiency613490C0221757OMIM14238941107400
HP:0002094HP:0012763Paroxysmal dyspnea1SFTPB CL E G H6439265120Surfactant metabolism dysfunction, pulmonary, 1265120C1968602OMIM119510801178640
HP:0002094HP:0012764Orthopnea1SFTPB CL E G H6439265120Surfactant metabolism dysfunction, pulmonary, 1265120C1968602OMIM119510801178640
HP:0002094HP:0002875Exertional dyspnea1SFTPB CL E G H6439265120Surfactant metabolism dysfunction, pulmonary, 1265120C1968602OMIM119510801178640
HP:0002094HP:0002098Respiratory distress1SFTPB CL E G H6439265120Surfactant metabolism dysfunction, pulmonary, 1265120C1968602OMIM119510801178640
HP:0002094HP:0033710Rest dyspnea1SFTPB CL E G H6439265120Surfactant metabolism dysfunction, pulmonary, 1265120C1968602OMIM119510801178640
HP:0002094HP:0033368Platypnea1SFTPB CL E G H6439265120Surfactant metabolism dysfunction, pulmonary, 1265120C1968602OMIM119510801178640
HP:0002094HP:0002875Exertional dyspnea1SLC25A1 CL E G H6576615182Combined d-2- and l-2-hydroxyglutaric aciduria615182C2746066OMIM156810979190315
HP:0002094HP:0002098Respiratory distress1SLC25A1 CL E G H6576615182Combined d-2- and l-2-hydroxyglutaric aciduria615182C2746066OMIM156810979190315
HP:0002094HP:0033710Rest dyspnea1SLC25A1 CL E G H6576615182Combined d-2- and l-2-hydroxyglutaric aciduria615182C2746066OMIM156810979190315
HP:0002094HP:0033368Platypnea1SLC25A1 CL E G H6576615182Combined d-2- and l-2-hydroxyglutaric aciduria615182C2746066OMIM156810979190315
HP:0002094HP:0012763Paroxysmal dyspnea1SLC25A1 CL E G H6576615182Combined d-2- and l-2-hydroxyglutaric aciduria615182C2746066OMIM156810979190315
HP:0002094HP:0012764Orthopnea1SLC25A1 CL E G H6576615182Combined d-2- and l-2-hydroxyglutaric aciduria615182C2746066OMIM156810979190315
HP:0002094HP:0033710Rest dyspnea1SMPD1 CL E G H6609607616Niemann-Pick disease, type B607616C0268243OMIM186411120607608
HP:0002094HP:0002875Exertional dyspnea1SMPD1 CL E G H6609607616Niemann-Pick disease, type B607616C0268243OMIM186411120607608
HP:0002094HP:0002098Respiratory distress1SMPD1 CL E G H6609607616Niemann-Pick disease, type B607616C0268243OMIM186411120607608
HP:0002094HP:0033368Platypnea1SMPD1 CL E G H6609607616Niemann-Pick disease, type B607616C0268243OMIM186411120607608
HP:0002094HP:0012763Paroxysmal dyspnea1SMPD1 CL E G H6609607616Niemann-Pick disease, type B607616C0268243OMIM186411120607608
HP:0002094HP:0012764Orthopnea1SMPD1 CL E G H6609607616Niemann-Pick disease, type B607616C0268243OMIM186411120607608
HP:0002094HP:0012763Paroxysmal dyspnea1SOD1 CL E G H6647803ORPHA129411179147450
HP:0002094HP:0012764Orthopnea1SOD1 CL E G H6647803ORPHA129411179147450
HP:0002094HP:0002098Respiratory distress1SOD1 CL E G H6647803ORPHA129411179147450
HP:0002094HP:0033710Rest dyspnea1SOD1 CL E G H6647803ORPHA129411179147450
HP:0002094HP:0002875Exertional dyspnea1SOD1 CL E G H6647803ORPHA129411179147450
HP:0002094HP:0033368Platypnea1SOD1 CL E G H6647803ORPHA129411179147450
HP:0002094HP:0002875Exertional dyspnea1SQSTM1 CL E G H8878803ORPHA167711280601530
HP:0002094HP:0002098Respiratory distress1SQSTM1 CL E G H8878803ORPHA167711280601530
HP:0002094HP:0033710Rest dyspnea1SQSTM1 CL E G H8878803ORPHA167711280601530
HP:0002094HP:0033368Platypnea1SQSTM1 CL E G H8878803ORPHA167711280601530
HP:0002094HP:0012763Paroxysmal dyspnea1SQSTM1 CL E G H8878803ORPHA167711280601530
HP:0002094HP:0012764Orthopnea1SQSTM1 CL E G H8878803ORPHA167711280601530
HP:0002094HP:0012763Paroxysmal dyspnea1TAF15 CL E G H8148803ORPHA112511547601574
HP:0002094HP:0012764Orthopnea1TAF15 CL E G H8148803ORPHA112511547601574
HP:0002094HP:0002098Respiratory distress1TAF15 CL E G H8148803ORPHA112511547601574
HP:0002094HP:0033710Rest dyspnea1TAF15 CL E G H8148803ORPHA112511547601574
HP:0002094HP:0002875Exertional dyspnea1TAF15 CL E G H8148803ORPHA112511547601574
HP:0002094HP:0033368Platypnea1TAF15 CL E G H8148803ORPHA112511547601574
HP:0002094HP:0002875Exertional dyspnea1TARDBP CL E G H23435803ORPHA130911571605078
HP:0002094HP:0002098Respiratory distress1TARDBP CL E G H23435803ORPHA130911571605078
HP:0002094HP:0033710Rest dyspnea1TARDBP CL E G H23435803ORPHA130911571605078
HP:0002094HP:0033368Platypnea1TARDBP CL E G H23435803ORPHA130911571605078
HP:0002094HP:0012763Paroxysmal dyspnea1TARDBP CL E G H23435803ORPHA130911571605078
HP:0002094HP:0012764Orthopnea1TARDBP CL E G H23435803ORPHA130911571605078
HP:0002094HP:0012763Paroxysmal dyspnea1TBK1 CL E G H29110803ORPHA138211584604834
HP:0002094HP:0012764Orthopnea1TBK1 CL E G H29110803ORPHA138211584604834
HP:0002094HP:0002098Respiratory distress1TBK1 CL E G H29110803ORPHA138211584604834
HP:0002094HP:0033710Rest dyspnea1TBK1 CL E G H29110803ORPHA138211584604834
HP:0002094HP:0002875Exertional dyspnea1TBK1 CL E G H29110803ORPHA138211584604834
HP:0002094HP:0033368Platypnea1TBK1 CL E G H29110803ORPHA138211584604834
HP:0002094HP:0012763Paroxysmal dyspnea1TNNC1 CL E G H7134613243Familial hypertrophic cardiomyopathy 13613243C2750472OMIM130011943191040
HP:0002094HP:0012764Orthopnea1TNNC1 CL E G H7134613243Familial hypertrophic cardiomyopathy 13613243C2750472OMIM130011943191040
HP:0002094HP:0002875Exertional dyspnea1TNNC1 CL E G H7134613243Familial hypertrophic cardiomyopathy 13613243C2750472OMIM130011943191040
HP:0002094HP:0002098Respiratory distress1TNNC1 CL E G H7134613243Familial hypertrophic cardiomyopathy 13613243C2750472OMIM130011943191040
HP:0002094HP:0033710Rest dyspnea1TNNC1 CL E G H7134613243Familial hypertrophic cardiomyopathy 13613243C2750472OMIM130011943191040
HP:0002094HP:0033368Platypnea1TNNC1 CL E G H7134613243Familial hypertrophic cardiomyopathy 13613243C2750472OMIM130011943191040
HP:0002094HP:0002875Exertional dyspnea1TREM2 CL E G H54209803ORPHA115417761605086
HP:0002094HP:0002098Respiratory distress1TREM2 CL E G H54209803ORPHA115417761605086
HP:0002094HP:0033710Rest dyspnea1TREM2 CL E G H54209803ORPHA115417761605086
HP:0002094HP:0033368Platypnea1TREM2 CL E G H54209803ORPHA115417761605086
HP:0002094HP:0012763Paroxysmal dyspnea1TREM2 CL E G H54209803ORPHA115417761605086
HP:0002094HP:0012764Orthopnea1TREM2 CL E G H54209803ORPHA115417761605086
HP:0002094HP:0002875Exertional dyspnea1TSC1 CL E G H7248538ORPHA1417212362605284
HP:0002094HP:0002098Respiratory distress1TSC1 CL E G H7248538ORPHA1417212362605284
HP:0002094HP:0033710Rest dyspnea1TSC1 CL E G H7248538ORPHA1417212362605284
HP:0002094HP:0033368Platypnea1TSC1 CL E G H7248538ORPHA1417212362605284
HP:0002094HP:0012763Paroxysmal dyspnea1TSC1 CL E G H7248538ORPHA1417212362605284
HP:0002094HP:0012764Orthopnea1TSC1 CL E G H7248538ORPHA1417212362605284
HP:0002094HP:0012763Paroxysmal dyspnea1TSC2 CL E G H7249538ORPHA1963812363191092
HP:0002094HP:0012764Orthopnea1TSC2 CL E G H7249538ORPHA1963812363191092
HP:0002094HP:0002875Exertional dyspnea1TSC2 CL E G H7249538ORPHA1963812363191092
HP:0002094HP:0002098Respiratory distress1TSC2 CL E G H7249538ORPHA1963812363191092
HP:0002094HP:0033710Rest dyspnea1TSC2 CL E G H7249538ORPHA1963812363191092
HP:0002094HP:0033368Platypnea1TSC2 CL E G H7249538ORPHA1963812363191092
HP:0002094HP:0012763Paroxysmal dyspnea1UBQLN2 CL E G H29978803ORPHA127312509300264
HP:0002094HP:0012764Orthopnea1UBQLN2 CL E G H29978803ORPHA127312509300264
HP:0002094HP:0002875Exertional dyspnea1UBQLN2 CL E G H29978803ORPHA127312509300264
HP:0002094HP:0002098Respiratory distress1UBQLN2 CL E G H29978803ORPHA127312509300264
HP:0002094HP:0033710Rest dyspnea1UBQLN2 CL E G H29978803ORPHA127312509300264
HP:0002094HP:0033368Platypnea1UBQLN2 CL E G H29978803ORPHA127312509300264
HP:0002094HP:0033710Rest dyspnea1UNC13A CL E G H23025803ORPHA114023150609894
HP:0002094HP:0002875Exertional dyspnea1UNC13A CL E G H23025803ORPHA114023150609894
HP:0002094HP:0002098Respiratory distress1UNC13A CL E G H23025803ORPHA114023150609894
HP:0002094HP:0033368Platypnea1UNC13A CL E G H23025803ORPHA114023150609894
HP:0002094HP:0012763Paroxysmal dyspnea1UNC13A CL E G H23025803ORPHA114023150609894
HP:0002094HP:0012764Orthopnea1UNC13A CL E G H23025803ORPHA114023150609894
HP:0002094HP:0012763Paroxysmal dyspnea1VAPB CL E G H9217803ORPHA135912649605704
HP:0002094HP:0012764Orthopnea1VAPB CL E G H9217803ORPHA135912649605704
HP:0002094HP:0002875Exertional dyspnea1VAPB CL E G H9217803ORPHA135912649605704
HP:0002094HP:0002098Respiratory distress1VAPB CL E G H9217803ORPHA135912649605704
HP:0002094HP:0033710Rest dyspnea1VAPB CL E G H9217803ORPHA135912649605704
HP:0002094HP:0033368Platypnea1VAPB CL E G H9217803ORPHA135912649605704
HP:0002094HP:0002098Respiratory distress1VCL CL E G H7414613255Familial hypertrophic cardiomyopathy 15613255C2750459OMIM1117512665193065
HP:0002094HP:0033710Rest dyspnea1VCL CL E G H7414613255Familial hypertrophic cardiomyopathy 15613255C2750459OMIM1117512665193065
HP:0002094HP:0002875Exertional dyspnea1VCL CL E G H7414613255Familial hypertrophic cardiomyopathy 15613255C2750459OMIM1117512665193065
HP:0002094HP:0033368Platypnea1VCL CL E G H7414613255Familial hypertrophic cardiomyopathy 15613255C2750459OMIM1117512665193065
HP:0002094HP:0012763Paroxysmal dyspnea1VCL CL E G H7414613255Familial hypertrophic cardiomyopathy 15613255C2750459OMIM1117512665193065
HP:0002094HP:0012764Orthopnea1VCL CL E G H7414613255Familial hypertrophic cardiomyopathy 15613255C2750459OMIM1117512665193065
HP:0002094HP:0033710Rest dyspnea1VCP CL E G H7415803ORPHA160712666601023
HP:0002094HP:0002875Exertional dyspnea1VCP CL E G H7415803ORPHA160712666601023
HP:0002094HP:0002098Respiratory distress1VCP CL E G H7415803ORPHA160712666601023
HP:0002094HP:0033368Platypnea1VCP CL E G H7415803ORPHA160712666601023
HP:0002094HP:0012763Paroxysmal dyspnea1VCP CL E G H7415803ORPHA160712666601023
HP:0002094HP:0012764Orthopnea1VCP CL E G H7415803ORPHA160712666601023
HP:0002094HP:0012763Paroxysmal dyspnea1WAS CL E G H7454906ORPHA160312731300392
HP:0002094HP:0012764Orthopnea1WAS CL E G H7454906ORPHA160312731300392
HP:0002094HP:0002875Exertional dyspnea1WAS CL E G H7454906ORPHA160312731300392
HP:0002094HP:0002098Respiratory distress1WAS CL E G H7454906ORPHA160312731300392
HP:0002094HP:0033710Rest dyspnea1WAS CL E G H7454906ORPHA160312731300392
HP:0002094HP:0033368Platypnea1WAS CL E G H7454906ORPHA160312731300392
HP:0002094HP:0033710Rest dyspnea1WIPF1 CL E G H7456906ORPHA127912736602357
HP:0002094HP:0002875Exertional dyspnea1WIPF1 CL E G H7456906ORPHA127912736602357
HP:0002094HP:0002098Respiratory distress1WIPF1 CL E G H7456906ORPHA127912736602357
HP:0002094HP:0033368Platypnea1WIPF1 CL E G H7456906ORPHA127912736602357
HP:0002094HP:0012763Paroxysmal dyspnea1WIPF1 CL E G H7456906ORPHA127912736602357
HP:0002094HP:0012764Orthopnea1WIPF1 CL E G H7456906ORPHA127912736602357
HP:0002094HP:0004885Episodic respiratory distress2ABCG5 CL E G H64240391665ORPHA160513886605459
HP:0002094HP:0030863Nasal flaring2ABCG5 CL E G H64240391665ORPHA160513886605459
HP:0002094HP:0030864Intercostal retractions2ABCG5 CL E G H64240391665ORPHA160513886605459
HP:0002094HP:0030863Nasal flaring2ABCG8 CL E G H64241391665ORPHA165913887605460
HP:0002094HP:0030864Intercostal retractions2ABCG8 CL E G H64241391665ORPHA165913887605460
HP:0002094HP:0004885Episodic respiratory distress2ABCG8 CL E G H64241391665ORPHA165913887605460
HP:0002094HP:0030863Nasal flaring2ACVRL1 CL E G H94600376Hereditary hemorrhagic telangiectasia type 2600376C1838163OMIM1888175601284
HP:0002094HP:0030864Intercostal retractions2ACVRL1 CL E G H94600376Hereditary hemorrhagic telangiectasia type 2600376C1838163OMIM1888175601284
HP:0002094HP:0004885Episodic respiratory distress2ACVRL1 CL E G H94600376Hereditary hemorrhagic telangiectasia type 2600376C1838163OMIM1888175601284
HP:0002094HP:0030863Nasal flaring2ANG CL E G H283803ORPHA1114483105850
HP:0002094HP:0030864Intercostal retractions2ANG CL E G H283803ORPHA1114483105850
HP:0002094HP:0004885Episodic respiratory distress2ANG CL E G H283803ORPHA1114483105850
HP:0002094HP:0030864Intercostal retractions2ANXA11 CL E G H311803ORPHA1305535602572
HP:0002094HP:0004885Episodic respiratory distress2ANXA11 CL E G H311803ORPHA1305535602572
HP:0002094HP:0030863Nasal flaring2ANXA11 CL E G H311803ORPHA1305535602572
HP:0002094HP:0004885Episodic respiratory distress2APOB CL E G H338391665ORPHA12916603107730
HP:0002094HP:0030863Nasal flaring2APOB CL E G H338391665ORPHA12916603107730
HP:0002094HP:0030864Intercostal retractions2APOB CL E G H338391665ORPHA12916603107730
HP:0002094HP:0030864Intercostal retractions2ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0002094HP:0004885Episodic respiratory distress2ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0002094HP:0030863Nasal flaring2ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0002094HP:0030863Nasal flaring2ATRX CL E G H546231401ORPHA11925886300032
HP:0002094HP:0030864Intercostal retractions2ATRX CL E G H546231401ORPHA11925886300032
HP:0002094HP:0004885Episodic respiratory distress2ATRX CL E G H546231401ORPHA11925886300032
HP:0002094HP:0030863Nasal flaring2ATXN2 CL E G H6311803ORPHA111510555601517
HP:0002094HP:0030864Intercostal retractions2ATXN2 CL E G H6311803ORPHA111510555601517
HP:0002094HP:0004885Episodic respiratory distress2ATXN2 CL E G H6311803ORPHA111510555601517
HP:0002094HP:0030864Intercostal retractions2BMPR2 CL E G H659178600Primary pulmonary hypertension178600C0152171OMIM110281078600799
HP:0002094HP:0004885Episodic respiratory distress2BMPR2 CL E G H659178600Primary pulmonary hypertension178600C0152171OMIM110281078600799
HP:0002094HP:0030863Nasal flaring2BMPR2 CL E G H659178600Primary pulmonary hypertension178600C0152171OMIM110281078600799
HP:0002094HP:0030863Nasal flaring2BTNL2 CL E G H56244797ORPHA1301142606000
HP:0002094HP:0030864Intercostal retractions2BTNL2 CL E G H56244797ORPHA1301142606000
HP:0002094HP:0004885Episodic respiratory distress2BTNL2 CL E G H56244797ORPHA1301142606000
HP:0002094HP:0030864Intercostal retractions2C9orf72 CL E G H203228803ORPHA117728337614260
HP:0002094HP:0004885Episodic respiratory distress2C9orf72 CL E G H203228803ORPHA117728337614260
HP:0002094HP:0030863Nasal flaring2C9orf72 CL E G H203228803ORPHA117728337614260
HP:0002094HP:0030864Intercostal retractions2CASR CL E G H846239200Neonatal severe hyperparathyroidism239200C1832615OMIM123301514601199
HP:0002094HP:0004885Episodic respiratory distress2CASR CL E G H846239200Neonatal severe hyperparathyroidism239200C1832615OMIM123301514601199
HP:0002094HP:0030863Nasal flaring2CASR CL E G H846239200Neonatal severe hyperparathyroidism239200C1832615OMIM123301514601199
HP:0002094HP:0030863Nasal flaring2CAV1 CL E G H857220393ORPHA11351527601047
HP:0002094HP:0030864Intercostal retractions2CAV1 CL E G H857220393ORPHA11351527601047
HP:0002094HP:0004885Episodic respiratory distress2CAV1 CL E G H857220393ORPHA11351527601047
HP:0002094HP:0030864Intercostal retractions2CAV1 CL E G H857615343Primary pulmonary hypertension 3615343C3809192OMIM11351527601047
HP:0002094HP:0004885Episodic respiratory distress2CAV1 CL E G H857615343Primary pulmonary hypertension 3615343C3809192OMIM11351527601047
HP:0002094HP:0030863Nasal flaring2CAV1 CL E G H857615343Primary pulmonary hypertension 3615343C3809192OMIM11351527601047
HP:0002094HP:0004885Episodic respiratory distress2CCN2 CL E G H1490220393ORPHA1322500121009
HP:0002094HP:0030863Nasal flaring2CCN2 CL E G H1490220393ORPHA1322500121009
HP:0002094HP:0030864Intercostal retractions2CCN2 CL E G H1490220393ORPHA1322500121009
HP:0002094HP:0030863Nasal flaring2CCNF CL E G H899803ORPHA11511591600227
HP:0002094HP:0030864Intercostal retractions2CCNF CL E G H899803ORPHA11511591600227
HP:0002094HP:0004885Episodic respiratory distress2CCNF CL E G H899803ORPHA11511591600227
HP:0002094HP:0030863Nasal flaring2CCR6 CL E G H1235220393ORPHA1651607601835
HP:0002094HP:0030864Intercostal retractions2CCR6 CL E G H1235220393ORPHA1651607601835
HP:0002094HP:0004885Episodic respiratory distress2CCR6 CL E G H1235220393ORPHA1651607601835
HP:0002094HP:0030864Intercostal retractions2CFAP410 CL E G H755803ORPHA14591260603191
HP:0002094HP:0004885Episodic respiratory distress2CFAP410 CL E G H755803ORPHA14591260603191
HP:0002094HP:0030863Nasal flaring2CFAP410 CL E G H755803ORPHA14591260603191
HP:0002094HP:0030863Nasal flaring2CHCHD10 CL E G H400916803ORPHA129715559615903
HP:0002094HP:0030864Intercostal retractions2CHCHD10 CL E G H400916803ORPHA129715559615903
HP:0002094HP:0004885Episodic respiratory distress2CHCHD10 CL E G H400916803ORPHA129715559615903
HP:0002094HP:0030864Intercostal retractions2CHMP2B CL E G H25978803ORPHA116024537609512
HP:0002094HP:0004885Episodic respiratory distress2CHMP2B CL E G H25978803ORPHA116024537609512
HP:0002094HP:0030863Nasal flaring2CHMP2B CL E G H25978803ORPHA116024537609512
HP:0002094HP:0030863Nasal flaring2CRLF1 CL E G H9244272430Cold-induced sweating syndrome 1272430C1848947OMIM11482364604237
HP:0002094HP:0030864Intercostal retractions2CRLF1 CL E G H9244272430Cold-induced sweating syndrome 1272430C1848947OMIM11482364604237
HP:0002094HP:0004885Episodic respiratory distress2CRLF1 CL E G H9244272430Cold-induced sweating syndrome 1272430C1848947OMIM11482364604237
HP:0002094HP:0030863Nasal flaring2CSF2RB CL E G H1439614370Surfactant metabolism dysfunction, pulmonary, 5614370C3280574OMIM15332436138981
HP:0002094HP:0030864Intercostal retractions2CSF2RB CL E G H1439614370Surfactant metabolism dysfunction, pulmonary, 5614370C3280574OMIM15332436138981
HP:0002094HP:0004885Episodic respiratory distress2CSF2RB CL E G H1439614370Surfactant metabolism dysfunction, pulmonary, 5614370C3280574OMIM15332436138981
HP:0002094HP:0030863Nasal flaring2CSPP1 CL E G H79848615636Joubert syndrome 21615636C3810212OMIM1107426193611654
HP:0002094HP:0030864Intercostal retractions2CSPP1 CL E G H79848615636Joubert syndrome 21615636C3810212OMIM1107426193611654
HP:0002094HP:0004885Episodic respiratory distress2CSPP1 CL E G H79848615636Joubert syndrome 21615636C3810212OMIM1107426193611654
HP:0002094HP:0030863Nasal flaring2DAO CL E G H1610803ORPHA1652671124050
HP:0002094HP:0030864Intercostal retractions2DAO CL E G H1610803ORPHA1652671124050
HP:0002094HP:0004885Episodic respiratory distress2DAO CL E G H1610803ORPHA1652671124050
HP:0002094HP:0030863Nasal flaring2DCTN1 CL E G H1639803ORPHA110842711601143
HP:0002094HP:0030864Intercostal retractions2DCTN1 CL E G H1639803ORPHA110842711601143
HP:0002094HP:0004885Episodic respiratory distress2DCTN1 CL E G H1639803ORPHA110842711601143
HP:0002094HP:0030864Intercostal retractions2DNASE1L3 CL E G H177636412ORPHA12002959602244
HP:0002094HP:0004885Episodic respiratory distress2DNASE1L3 CL E G H177636412ORPHA12002959602244
HP:0002094HP:0030863Nasal flaring2DNASE1L3 CL E G H177636412ORPHA12002959602244
HP:0002094HP:0030863Nasal flaring2DSC2 CL E G H1824610476Arrhythmogenic right ventricular cardiomyopathy, type 11610476C1864850OMIM114023036125645
HP:0002094HP:0030864Intercostal retractions2DSC2 CL E G H1824610476Arrhythmogenic right ventricular cardiomyopathy, type 11610476C1864850OMIM114023036125645
HP:0002094HP:0004885Episodic respiratory distress2DSC2 CL E G H1824610476Arrhythmogenic right ventricular cardiomyopathy, type 11610476C1864850OMIM114023036125645
HP:0002094HP:0030863Nasal flaring2EIF2AK4 CL E G H440275234810Familial pulmonary capillary hemangiomatosis234810C0340848OMIM136119687609280
HP:0002094HP:0030864Intercostal retractions2EIF2AK4 CL E G H440275234810Familial pulmonary capillary hemangiomatosis234810C0340848OMIM136119687609280
HP:0002094HP:0004885Episodic respiratory distress2EIF2AK4 CL E G H440275234810Familial pulmonary capillary hemangiomatosis234810C0340848OMIM136119687609280
HP:0002094HP:0030863Nasal flaring2ENG CL E G H2022187300Osler hemorrhagic telangiectasia syndrome187300C0039445OMIM114133349131195
HP:0002094HP:0030864Intercostal retractions2ENG CL E G H2022187300Osler hemorrhagic telangiectasia syndrome187300C0039445OMIM114133349131195
HP:0002094HP:0004885Episodic respiratory distress2ENG CL E G H2022187300Osler hemorrhagic telangiectasia syndrome187300C0039445OMIM114133349131195
HP:0002094HP:0030864Intercostal retractions2EPHA4 CL E G H2043803ORPHA11933388602188
HP:0002094HP:0004885Episodic respiratory distress2EPHA4 CL E G H2043803ORPHA11933388602188
HP:0002094HP:0030863Nasal flaring2EPHA4 CL E G H2043803ORPHA11933388602188
HP:0002094HP:0030863Nasal flaring2ERBB4 CL E G H2066803ORPHA14623432600543
HP:0002094HP:0030864Intercostal retractions2ERBB4 CL E G H2066803ORPHA14623432600543
HP:0002094HP:0004885Episodic respiratory distress2ERBB4 CL E G H2066803ORPHA14623432600543
HP:0002094HP:0030864Intercostal retractions2FBP1 CL E G H2203229700Fructose-biphosphatase deficiency229700C0016756OMIM12123606611570
HP:0002094HP:0004885Episodic respiratory distress2FBP1 CL E G H2203229700Fructose-biphosphatase deficiency229700C0016756OMIM12123606611570
HP:0002094HP:0030863Nasal flaring2FBP1 CL E G H2203229700Fructose-biphosphatase deficiency229700C0016756OMIM12123606611570
HP:0002094HP:0030864Intercostal retractions2FIG4 CL E G H9896803ORPHA192616873609390
HP:0002094HP:0004885Episodic respiratory distress2FIG4 CL E G H9896803ORPHA192616873609390
HP:0002094HP:0030863Nasal flaring2FIG4 CL E G H9896803ORPHA192616873609390
HP:0002094HP:0030863Nasal flaring2FLNC CL E G H2318617047Cardiomyopathy, familial hypertrophic, 26617047C4310749OMIM142083756102565
HP:0002094HP:0030864Intercostal retractions2FLNC CL E G H2318617047Cardiomyopathy, familial hypertrophic, 26617047C4310749OMIM142083756102565
HP:0002094HP:0004885Episodic respiratory distress2FLNC CL E G H2318617047Cardiomyopathy, familial hypertrophic, 26617047C4310749OMIM142083756102565
HP:0002094HP:0030863Nasal flaring2FUS CL E G H2521803ORPHA14744010137070
HP:0002094HP:0030864Intercostal retractions2FUS CL E G H2521803ORPHA14744010137070
HP:0002094HP:0004885Episodic respiratory distress2FUS CL E G H2521803ORPHA14744010137070
HP:0002094HP:0030864Intercostal retractions2GAA CL E G H2548232300Glycogen storage disease, type II232300C0017921OMIM124424065606800
HP:0002094HP:0004885Episodic respiratory distress2GAA CL E G H2548232300Glycogen storage disease, type II232300C0017921OMIM124424065606800
HP:0002094HP:0030863Nasal flaring2GAA CL E G H2548232300Glycogen storage disease, type II232300C0017921OMIM124424065606800
HP:0002094HP:0030863Nasal flaring2GBA CL E G H2629230800Gaucher's disease, type 1230800C1961835OMIM14177606463
HP:0002094HP:0030864Intercostal retractions2GBA CL E G H2629230800Gaucher's disease, type 1230800C1961835OMIM14177606463
HP:0002094HP:0004885Episodic respiratory distress2GBA CL E G H2629230800Gaucher's disease, type 1230800C1961835OMIM14177606463
HP:0002094HP:0030864Intercostal retractions2GLE1 CL E G H2733803ORPHA14754315603371
HP:0002094HP:0004885Episodic respiratory distress2GLE1 CL E G H2733803ORPHA14754315603371
HP:0002094HP:0030863Nasal flaring2GLE1 CL E G H2733803ORPHA14754315603371
HP:0002094HP:0004885Episodic respiratory distress2HBB CL E G H3043231214ORPHA116004827141900
HP:0002094HP:0030863Nasal flaring2HBB CL E G H3043231214ORPHA116004827141900
HP:0002094HP:0030864Intercostal retractions2HBB CL E G H3043231214ORPHA116004827141900
HP:0002094HP:0004885Episodic respiratory distress2HLA-DRB1 CL E G H3123220393ORPHA1414948142857
HP:0002094HP:0030864Intercostal retractions2HLA-DRB1 CL E G H3123797ORPHA1414948142857
HP:0002094HP:0004885Episodic respiratory distress2HLA-DRB1 CL E G H3123797ORPHA1414948142857
HP:0002094HP:0030863Nasal flaring2HLA-DRB1 CL E G H3123220393ORPHA1414948142857
HP:0002094HP:0030864Intercostal retractions2HLA-DRB1 CL E G H3123220393ORPHA1414948142857
HP:0002094HP:0030863Nasal flaring2HLA-DRB1 CL E G H3123797ORPHA1414948142857
HP:0002094HP:0030863Nasal flaring2HNRNPA1 CL E G H3178803ORPHA1805031164017
HP:0002094HP:0030864Intercostal retractions2HNRNPA1 CL E G H3178803ORPHA1805031164017
HP:0002094HP:0004885Episodic respiratory distress2HNRNPA1 CL E G H3178803ORPHA1805031164017
HP:0002094HP:0030863Nasal flaring2IRF5 CL E G H3663220393ORPHA1656120607218
HP:0002094HP:0030864Intercostal retractions2IRF5 CL E G H3663220393ORPHA1656120607218
HP:0002094HP:0004885Episodic respiratory distress2IRF5 CL E G H3663220393ORPHA1656120607218
HP:0002094HP:0030863Nasal flaring2ISCU CL E G H23479255125Myopathy with lactic acidosis, hereditary255125C1850718OMIM116029882611911
HP:0002094HP:0030864Intercostal retractions2ISCU CL E G H23479255125Myopathy with lactic acidosis, hereditary255125C1850718OMIM116029882611911
HP:0002094HP:0004885Episodic respiratory distress2ISCU CL E G H23479255125Myopathy with lactic acidosis, hereditary255125C1850718OMIM116029882611911
HP:0002094HP:0030864Intercostal retractions2JPH2 CL E G H57158613873Familial hypertrophic cardiomyopathy 17613873C3151264OMIM177014202605267
HP:0002094HP:0004885Episodic respiratory distress2JPH2 CL E G H57158613873Familial hypertrophic cardiomyopathy 17613873C3151264OMIM177014202605267
HP:0002094HP:0030863Nasal flaring2JPH2 CL E G H57158613873Familial hypertrophic cardiomyopathy 17613873C3151264OMIM177014202605267
HP:0002094HP:0030863Nasal flaring2KCNJ6 CL E G H3763435628ORPHA11516267600877
HP:0002094HP:0030864Intercostal retractions2KCNJ6 CL E G H3763435628ORPHA11516267600877
HP:0002094HP:0004885Episodic respiratory distress2KCNJ6 CL E G H3763435628ORPHA11516267600877
HP:0002094HP:0030864Intercostal retractions2LAMA3 CL E G H390979404ORPHA113796483600805
HP:0002094HP:0004885Episodic respiratory distress2LAMA3 CL E G H390979404ORPHA113796483600805
HP:0002094HP:0030863Nasal flaring2LAMA3 CL E G H390979404ORPHA113796483600805
HP:0002094HP:0030863Nasal flaring2LAMB3 CL E G H391479404ORPHA110206490150310
HP:0002094HP:0030864Intercostal retractions2LAMB3 CL E G H391479404ORPHA110206490150310
HP:0002094HP:0004885Episodic respiratory distress2LAMB3 CL E G H391479404ORPHA110206490150310
HP:0002094HP:0030864Intercostal retractions2LAMC2 CL E G H391879404ORPHA19096493150292
HP:0002094HP:0004885Episodic respiratory distress2LAMC2 CL E G H391879404ORPHA19096493150292
HP:0002094HP:0030863Nasal flaring2LAMC2 CL E G H391879404ORPHA19096493150292
HP:0002094HP:0030863Nasal flaring2LDLR CL E G H3949391665ORPHA138196547606945
HP:0002094HP:0030864Intercostal retractions2LDLR CL E G H3949391665ORPHA138196547606945
HP:0002094HP:0004885Episodic respiratory distress2LDLR CL E G H3949391665ORPHA138196547606945
HP:0002094HP:0004885Episodic respiratory distress2LDLRAP1 CL E G H26119391665ORPHA143618640605747
HP:0002094HP:0030863Nasal flaring2LDLRAP1 CL E G H26119391665ORPHA143618640605747
HP:0002094HP:0030864Intercostal retractions2LDLRAP1 CL E G H26119391665ORPHA143618640605747
HP:0002094HP:0030864Intercostal retractions2MARS CL E G H4141615486Interstitial lung and liver disease615486C4225400OMIM16898156560
HP:0002094HP:0004885Episodic respiratory distress2MARS CL E G H4141615486Interstitial lung and liver disease615486C4225400OMIM16898156560
HP:0002094HP:0030863Nasal flaring2MARS CL E G H4141615486Interstitial lung and liver disease615486C4225400OMIM16898156560
HP:0002094HP:0030864Intercostal retractions2MATR3 CL E G H9782803ORPHA14506912164015
HP:0002094HP:0004885Episodic respiratory distress2MATR3 CL E G H9782803ORPHA14506912164015
HP:0002094HP:0030863Nasal flaring2MATR3 CL E G H9782803ORPHA14506912164015
HP:0002094HP:0030863Nasal flaring2MGME1 CL E G H92667352447ORPHA115716205615076
HP:0002094HP:0030864Intercostal retractions2MGME1 CL E G H92667352447ORPHA115716205615076
HP:0002094HP:0004885Episodic respiratory distress2MGME1 CL E G H92667352447ORPHA115716205615076
HP:0002094HP:0030864Intercostal retractions2MGME1 CL E G H92667615084Mitochondrial DNA depletion syndrome 11615084C3554462OMIM115716205615076
HP:0002094HP:0004885Episodic respiratory distress2MGME1 CL E G H92667615084Mitochondrial DNA depletion syndrome 11615084C3554462OMIM115716205615076
HP:0002094HP:0030863Nasal flaring2MGME1 CL E G H92667615084Mitochondrial DNA depletion syndrome 11615084C3554462OMIM115716205615076
HP:0002094HP:0030864Intercostal retractions2MRPL3 CL E G H11222614582Combined oxidative phosphorylation deficiency 9614582C3281234OMIM110910379607118
HP:0002094HP:0004885Episodic respiratory distress2MRPL3 CL E G H11222614582Combined oxidative phosphorylation deficiency 9614582C3281234OMIM110910379607118
HP:0002094HP:0030863Nasal flaring2MRPL3 CL E G H11222614582Combined oxidative phosphorylation deficiency 9614582C3281234OMIM110910379607118
HP:0002094HP:0030864Intercostal retractions2MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA17489590060
HP:0002094HP:0004885Episodic respiratory distress2MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA17489590060
HP:0002094HP:0030863Nasal flaring2MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA17489590060
HP:0002094HP:0030864Intercostal retractions2MYL2 CL E G H4633608758Familial hypertrophic cardiomyopathy 10608758C1834460OMIM14967583160781
HP:0002094HP:0004885Episodic respiratory distress2MYL2 CL E G H4633608758Familial hypertrophic cardiomyopathy 10608758C1834460OMIM14967583160781
HP:0002094HP:0030863Nasal flaring2MYL2 CL E G H4633608758Familial hypertrophic cardiomyopathy 10608758C1834460OMIM14967583160781
HP:0002094HP:0030863Nasal flaring2NEFH CL E G H4744803ORPHA17147737162230
HP:0002094HP:0030864Intercostal retractions2NEFH CL E G H4744803ORPHA17147737162230
HP:0002094HP:0004885Episodic respiratory distress2NEFH CL E G H4744803ORPHA17147737162230
HP:0002094HP:0030864Intercostal retractions2NEK1 CL E G H4750803ORPHA16797744604588
HP:0002094HP:0004885Episodic respiratory distress2NEK1 CL E G H4750803ORPHA16797744604588
HP:0002094HP:0030863Nasal flaring2NEK1 CL E G H4750803ORPHA16797744604588
HP:0002094HP:0030864Intercostal retractions2NPPA CL E G H4878615745Atrial standstill 2615745C3810401OMIM11827939108780
HP:0002094HP:0004885Episodic respiratory distress2NPPA CL E G H4878615745Atrial standstill 2615745C3810401OMIM11827939108780
HP:0002094HP:0030863Nasal flaring2NPPA CL E G H4878615745Atrial standstill 2615745C3810401OMIM11827939108780
HP:0002094HP:0030863Nasal flaring2OPTN CL E G H10133803ORPHA142817142602432
HP:0002094HP:0030864Intercostal retractions2OPTN CL E G H10133803ORPHA142817142602432
HP:0002094HP:0004885Episodic respiratory distress2OPTN CL E G H10133803ORPHA142817142602432
HP:0002094HP:0030863Nasal flaring2ORC6 CL E G H23594613803Meier-Gorlin syndrome 3613803C3151113OMIM116417151607213
HP:0002094HP:0030864Intercostal retractions2ORC6 CL E G H23594613803Meier-Gorlin syndrome 3613803C3151113OMIM116417151607213
HP:0002094HP:0004885Episodic respiratory distress2ORC6 CL E G H23594613803Meier-Gorlin syndrome 3613803C3151113OMIM116417151607213
HP:0002094HP:0030863Nasal flaring2PCSK9 CL E G H255738391665ORPHA1100020001607786
HP:0002094HP:0030864Intercostal retractions2PCSK9 CL E G H255738391665ORPHA1100020001607786
HP:0002094HP:0004885Episodic respiratory distress2PCSK9 CL E G H255738391665ORPHA1100020001607786
HP:0002094HP:0030864Intercostal retractions2PFN1 CL E G H5216803ORPHA11018881176610
HP:0002094HP:0004885Episodic respiratory distress2PFN1 CL E G H5216803ORPHA11018881176610
HP:0002094HP:0030863Nasal flaring2PFN1 CL E G H5216803ORPHA11018881176610
HP:0002094HP:0030863Nasal flaring2PIGT CL E G H51604615399Paroxysmal nocturnal hemoglobinuria 2615399C3809369OMIM127714938610272
HP:0002094HP:0030864Intercostal retractions2PIGT CL E G H51604615399Paroxysmal nocturnal hemoglobinuria 2615399C3809369OMIM127714938610272
HP:0002094HP:0004885Episodic respiratory distress2PIGT CL E G H51604615399Paroxysmal nocturnal hemoglobinuria 2615399C3809369OMIM127714938610272
HP:0002094HP:0030863Nasal flaring2PON1 CL E G H5444803ORPHA1659204168820
HP:0002094HP:0030864Intercostal retractions2PON1 CL E G H5444803ORPHA1659204168820
HP:0002094HP:0004885Episodic respiratory distress2PON1 CL E G H5444803ORPHA1659204168820
HP:0002094HP:0030864Intercostal retractions2PON2 CL E G H5445803ORPHA1689205602447
HP:0002094HP:0004885Episodic respiratory distress2PON2 CL E G H5445803ORPHA1689205602447
HP:0002094HP:0030863Nasal flaring2PON2 CL E G H5445803ORPHA1689205602447
HP:0002094HP:0030863Nasal flaring2PON3 CL E G H5446803ORPHA1629206602720
HP:0002094HP:0030864Intercostal retractions2PON3 CL E G H5446803ORPHA1629206602720
HP:0002094HP:0004885Episodic respiratory distress2PON3 CL E G H5446803ORPHA1629206602720
HP:0002094HP:0030864Intercostal retractions2PPARGC1A CL E G H10891803ORPHA1719237604517
HP:0002094HP:0004885Episodic respiratory distress2PPARGC1A CL E G H10891803ORPHA1719237604517
HP:0002094HP:0030863Nasal flaring2PPARGC1A CL E G H10891803ORPHA1719237604517
HP:0002094HP:0030863Nasal flaring2PRPH CL E G H5630803ORPHA1769461170710
HP:0002094HP:0030864Intercostal retractions2PRPH CL E G H5630803ORPHA1769461170710
HP:0002094HP:0004885Episodic respiratory distress2PRPH CL E G H5630803ORPHA1769461170710
HP:0002094HP:0030863Nasal flaring2RNU4ATAC CL E G H1001516832636Hemihypertrophy intestinal web corneal opacityORPHA126134016601428
HP:0002094HP:0030864Intercostal retractions2RNU4ATAC CL E G H1001516832636Hemihypertrophy intestinal web corneal opacityORPHA126134016601428
HP:0002094HP:0004885Episodic respiratory distress2RNU4ATAC CL E G H1001516832636Hemihypertrophy intestinal web corneal opacityORPHA126134016601428
HP:0002094HP:0030863Nasal flaring2SCN5A CL E G H6331113900Progressive familial heart block type 1A113900C1879286OMIM1353110593600163
HP:0002094HP:0030864Intercostal retractions2SCN5A CL E G H6331113900Progressive familial heart block type 1A113900C1879286OMIM1353110593600163
HP:0002094HP:0004885Episodic respiratory distress2SCN5A CL E G H6331113900Progressive familial heart block type 1A113900C1879286OMIM1353110593600163
HP:0002094HP:0030864Intercostal retractions2SERPINA1 CL E G H5265613490Alpha-1-antitrypsin deficiency613490C0221757OMIM14238941107400
HP:0002094HP:0004885Episodic respiratory distress2SERPINA1 CL E G H5265613490Alpha-1-antitrypsin deficiency613490C0221757OMIM14238941107400
HP:0002094HP:0030863Nasal flaring2SERPINA1 CL E G H5265613490Alpha-1-antitrypsin deficiency613490C0221757OMIM14238941107400
HP:0002094HP:0030864Intercostal retractions2SFTPB CL E G H6439265120Surfactant metabolism dysfunction, pulmonary, 1265120C1968602OMIM119510801178640
HP:0002094HP:0004885Episodic respiratory distress2SFTPB CL E G H6439265120Surfactant metabolism dysfunction, pulmonary, 1265120C1968602OMIM119510801178640
HP:0002094HP:0030863Nasal flaring2SFTPB CL E G H6439265120Surfactant metabolism dysfunction, pulmonary, 1265120C1968602OMIM119510801178640
HP:0002094HP:0030863Nasal flaring2SLC25A1 CL E G H6576615182Combined d-2- and l-2-hydroxyglutaric aciduria615182C2746066OMIM156810979190315
HP:0002094HP:0030864Intercostal retractions2SLC25A1 CL E G H6576615182Combined d-2- and l-2-hydroxyglutaric aciduria615182C2746066OMIM156810979190315
HP:0002094HP:0004885Episodic respiratory distress2SLC25A1 CL E G H6576615182Combined d-2- and l-2-hydroxyglutaric aciduria615182C2746066OMIM156810979190315
HP:0002094HP:0030863Nasal flaring2SMPD1 CL E G H6609607616Niemann-Pick disease, type B607616C0268243OMIM186411120607608
HP:0002094HP:0030864Intercostal retractions2SMPD1 CL E G H6609607616Niemann-Pick disease, type B607616C0268243OMIM186411120607608
HP:0002094HP:0004885Episodic respiratory distress2SMPD1 CL E G H6609607616Niemann-Pick disease, type B607616C0268243OMIM186411120607608
HP:0002094HP:0030864Intercostal retractions2SOD1 CL E G H6647803ORPHA129411179147450
HP:0002094HP:0004885Episodic respiratory distress2SOD1 CL E G H6647803ORPHA129411179147450
HP:0002094HP:0030863Nasal flaring2SOD1 CL E G H6647803ORPHA129411179147450
HP:0002094HP:0030863Nasal flaring2SQSTM1 CL E G H8878803ORPHA167711280601530
HP:0002094HP:0030864Intercostal retractions2SQSTM1 CL E G H8878803ORPHA167711280601530
HP:0002094HP:0004885Episodic respiratory distress2SQSTM1 CL E G H8878803ORPHA167711280601530
HP:0002094HP:0030864Intercostal retractions2TAF15 CL E G H8148803ORPHA112511547601574
HP:0002094HP:0004885Episodic respiratory distress2TAF15 CL E G H8148803ORPHA112511547601574
HP:0002094HP:0030863Nasal flaring2TAF15 CL E G H8148803ORPHA112511547601574
HP:0002094HP:0030863Nasal flaring2TARDBP CL E G H23435803ORPHA130911571605078
HP:0002094HP:0030864Intercostal retractions2TARDBP CL E G H23435803ORPHA130911571605078
HP:0002094HP:0004885Episodic respiratory distress2TARDBP CL E G H23435803ORPHA130911571605078
HP:0002094HP:0030864Intercostal retractions2TBK1 CL E G H29110803ORPHA138211584604834
HP:0002094HP:0004885Episodic respiratory distress2TBK1 CL E G H29110803ORPHA138211584604834
HP:0002094HP:0030863Nasal flaring2TBK1 CL E G H29110803ORPHA138211584604834
HP:0002094HP:0030864Intercostal retractions2TNNC1 CL E G H7134613243Familial hypertrophic cardiomyopathy 13613243C2750472OMIM130011943191040
HP:0002094HP:0004885Episodic respiratory distress2TNNC1 CL E G H7134613243Familial hypertrophic cardiomyopathy 13613243C2750472OMIM130011943191040
HP:0002094HP:0030863Nasal flaring2TNNC1 CL E G H7134613243Familial hypertrophic cardiomyopathy 13613243C2750472OMIM130011943191040
HP:0002094HP:0030863Nasal flaring2TREM2 CL E G H54209803ORPHA115417761605086
HP:0002094HP:0030864Intercostal retractions2TREM2 CL E G H54209803ORPHA115417761605086
HP:0002094HP:0004885Episodic respiratory distress2TREM2 CL E G H54209803ORPHA115417761605086
HP:0002094HP:0030863Nasal flaring2TSC1 CL E G H7248538ORPHA1417212362605284
HP:0002094HP:0030864Intercostal retractions2TSC1 CL E G H7248538ORPHA1417212362605284
HP:0002094HP:0004885Episodic respiratory distress2TSC1 CL E G H7248538ORPHA1417212362605284
HP:0002094HP:0030864Intercostal retractions2TSC2 CL E G H7249538ORPHA1963812363191092
HP:0002094HP:0004885Episodic respiratory distress2TSC2 CL E G H7249538ORPHA1963812363191092
HP:0002094HP:0030863Nasal flaring2TSC2 CL E G H7249538ORPHA1963812363191092
HP:0002094HP:0030864Intercostal retractions2UBQLN2 CL E G H29978803ORPHA127312509300264
HP:0002094HP:0004885Episodic respiratory distress2UBQLN2 CL E G H29978803ORPHA127312509300264
HP:0002094HP:0030863Nasal flaring2UBQLN2 CL E G H29978803ORPHA127312509300264
HP:0002094HP:0030863Nasal flaring2UNC13A CL E G H23025803ORPHA114023150609894
HP:0002094HP:0030864Intercostal retractions2UNC13A CL E G H23025803ORPHA114023150609894
HP:0002094HP:0004885Episodic respiratory distress2UNC13A CL E G H23025803ORPHA114023150609894
HP:0002094HP:0030864Intercostal retractions2VAPB CL E G H9217803ORPHA135912649605704
HP:0002094HP:0004885Episodic respiratory distress2VAPB CL E G H9217803ORPHA135912649605704
HP:0002094HP:0030863Nasal flaring2VAPB CL E G H9217803ORPHA135912649605704
HP:0002094HP:0030863Nasal flaring2VCL CL E G H7414613255Familial hypertrophic cardiomyopathy 15613255C2750459OMIM1117512665193065
HP:0002094HP:0030864Intercostal retractions2VCL CL E G H7414613255Familial hypertrophic cardiomyopathy 15613255C2750459OMIM1117512665193065
HP:0002094HP:0004885Episodic respiratory distress2VCL CL E G H7414613255Familial hypertrophic cardiomyopathy 15613255C2750459OMIM1117512665193065
HP:0002094HP:0030863Nasal flaring2VCP CL E G H7415803ORPHA160712666601023
HP:0002094HP:0030864Intercostal retractions2VCP CL E G H7415803ORPHA160712666601023
HP:0002094HP:0004885Episodic respiratory distress2VCP CL E G H7415803ORPHA160712666601023
HP:0002094HP:0030864Intercostal retractions2WAS CL E G H7454906ORPHA160312731300392
HP:0002094HP:0004885Episodic respiratory distress2WAS CL E G H7454906ORPHA160312731300392
HP:0002094HP:0030863Nasal flaring2WAS CL E G H7454906ORPHA160312731300392
HP:0002094HP:0030863Nasal flaring2WIPF1 CL E G H7456906ORPHA127912736602357
HP:0002094HP:0030864Intercostal retractions2WIPF1 CL E G H7456906ORPHA127912736602357
HP:0002094HP:0004885Episodic respiratory distress2WIPF1 CL E G H7456906ORPHA127912736602357
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002094HP:0002094Dyspnea0ALAS2 CL E G H21275563ORPHA0342397301300
HP:0002094HP:0002094Dyspnea0DNAJB6 CL E G H10049603511Limb-girdle muscular dystrophy, type 1E603511C3148763OMIM048714888611332
HP:0002094HP:0002094Dyspnea0GLA CL E G H2717324Slti Salem syndromeORPHA010994296300644
HP:0002094HP:0002094Dyspnea0GNAS CL E G H277879444ORPHA06444392139320
HP:0002094HP:0002094Dyspnea0GNAS CL E G H277894089ORPHA06444392139320
HP:0002094HP:0002094Dyspnea0GNAS CL E G H277879443ORPHA06444392139320
HP:0002094HP:0002094Dyspnea0HLA-B CL E G H310636426ORPHA0294932142830
HP:0002094HP:0002094Dyspnea0IKZF1 CL E G H1032036426ORPHA020013176603023
HP:0002094HP:0002094Dyspnea0NOD2 CL E G H6412790340ORPHA08855331605956
HP:0002094HP:0002094Dyspnea0PGM1 CL E G H5236614921Congenital disorder of glycosylation type 1t614921C2752015OMIM04138905171900
HP:0002094HP:0002094Dyspnea0PNKD CL E G H2595398810Paroxysmal non-kinesigenic dyskinesiaC1869117ORPHA05219153609023
HP:0002094HP:0002094Dyspnea0PRRT2 CL E G H11247698810Paroxysmal non-kinesigenic dyskinesiaC1869117ORPHA079930500614386
HP:0002094HP:0002094Dyspnea0SCN4A CL E G H632999734ORPHA0176510591603967
HP:0002094HP:0002094Dyspnea0SCN4A CL E G H632999735ORPHA0176510591603967
HP:0002094HP:0002094Dyspnea0STX16 CL E G H867594089ORPHA020911431603666
HP:0002094HP:0002094Dyspnea0TBX4 CL E G H9496261279ORPHA027411603601719
HP:0002094HP:0002094Dyspnea0VCP CL E G H7415435387ORPHA060712666601023
HP:0002094HP:0002098Respiratory distress1ALAS2 CL E G H21275563ORPHA0342397301300
HP:0002094HP:0033710Rest dyspnea1ALAS2 CL E G H21275563ORPHA0342397301300
HP:0002094HP:0002875Exertional dyspnea1ALAS2 CL E G H21275563ORPHA0342397301300
HP:0002094HP:0033368Platypnea1ALAS2 CL E G H21275563ORPHA0342397301300
HP:0002094HP:0012763Paroxysmal dyspnea1ALAS2 CL E G H21275563ORPHA0342397301300
HP:0002094HP:0012764Orthopnea1ALAS2 CL E G H21275563ORPHA0342397301300
HP:0002094HP:0012763Paroxysmal dyspnea1DNAJB6 CL E G H10049603511Limb-girdle muscular dystrophy, type 1E603511C3148763OMIM048714888611332
HP:0002094HP:0012764Orthopnea1DNAJB6 CL E G H10049603511Limb-girdle muscular dystrophy, type 1E603511C3148763OMIM048714888611332
HP:0002094HP:0002875Exertional dyspnea1DNAJB6 CL E G H10049603511Limb-girdle muscular dystrophy, type 1E603511C3148763OMIM048714888611332
HP:0002094HP:0002098Respiratory distress1DNAJB6 CL E G H10049603511Limb-girdle muscular dystrophy, type 1E603511C3148763OMIM048714888611332
HP:0002094HP:0033710Rest dyspnea1DNAJB6 CL E G H10049603511Limb-girdle muscular dystrophy, type 1E603511C3148763OMIM048714888611332
HP:0002094HP:0033368Platypnea1DNAJB6 CL E G H10049603511Limb-girdle muscular dystrophy, type 1E603511C3148763OMIM048714888611332
HP:0002094HP:0012763Paroxysmal dyspnea1GLA CL E G H2717324Slti Salem syndromeORPHA010994296300644
HP:0002094HP:0012764Orthopnea1GLA CL E G H2717324Slti Salem syndromeORPHA010994296300644
HP:0002094HP:0002098Respiratory distress1GLA CL E G H2717324Slti Salem syndromeORPHA010994296300644
HP:0002094HP:0033710Rest dyspnea1GLA CL E G H2717324Slti Salem syndromeORPHA010994296300644
HP:0002094HP:0002875Exertional dyspnea1GLA CL E G H2717324Slti Salem syndromeORPHA010994296300644
HP:0002094HP:0033368Platypnea1GLA CL E G H2717324Slti Salem syndromeORPHA010994296300644
HP:0002094HP:0002875Exertional dyspnea1GNAS CL E G H277879443ORPHA06444392139320
HP:0002094HP:0002098Respiratory distress1GNAS CL E G H277879443ORPHA06444392139320
HP:0002094HP:0033710Rest dyspnea1GNAS CL E G H277879443ORPHA06444392139320
HP:0002094HP:0012763Paroxysmal dyspnea1GNAS CL E G H277879444ORPHA06444392139320
HP:0002094HP:0012763Paroxysmal dyspnea1GNAS CL E G H277894089ORPHA06444392139320
HP:0002094HP:0033368Platypnea1GNAS CL E G H277879443ORPHA06444392139320
HP:0002094HP:0012764Orthopnea1GNAS CL E G H277879444ORPHA06444392139320
HP:0002094HP:0012764Orthopnea1GNAS CL E G H277894089ORPHA06444392139320
HP:0002094HP:0033710Rest dyspnea1GNAS CL E G H277879444ORPHA06444392139320
HP:0002094HP:0033710Rest dyspnea1GNAS CL E G H277894089ORPHA06444392139320
HP:0002094HP:0012763Paroxysmal dyspnea1GNAS CL E G H277879443ORPHA06444392139320
HP:0002094HP:0002875Exertional dyspnea1GNAS CL E G H277879444ORPHA06444392139320
HP:0002094HP:0002875Exertional dyspnea1GNAS CL E G H277894089ORPHA06444392139320
HP:0002094HP:0002098Respiratory distress1GNAS CL E G H277879444ORPHA06444392139320
HP:0002094HP:0002098Respiratory distress1GNAS CL E G H277894089ORPHA06444392139320
HP:0002094HP:0012764Orthopnea1GNAS CL E G H277879443ORPHA06444392139320
HP:0002094HP:0033368Platypnea1GNAS CL E G H277879444ORPHA06444392139320
HP:0002094HP:0033368Platypnea1GNAS CL E G H277894089ORPHA06444392139320
HP:0002094HP:0002098Respiratory distress1HLA-B CL E G H310636426ORPHA0294932142830
HP:0002094HP:0033710Rest dyspnea1HLA-B CL E G H310636426ORPHA0294932142830
HP:0002094HP:0002875Exertional dyspnea1HLA-B CL E G H310636426ORPHA0294932142830
HP:0002094HP:0033368Platypnea1HLA-B CL E G H310636426ORPHA0294932142830
HP:0002094HP:0012763Paroxysmal dyspnea1HLA-B CL E G H310636426ORPHA0294932142830
HP:0002094HP:0012764Orthopnea1HLA-B CL E G H310636426ORPHA0294932142830
HP:0002094HP:0012763Paroxysmal dyspnea1IKZF1 CL E G H1032036426ORPHA020013176603023
HP:0002094HP:0012764Orthopnea1IKZF1 CL E G H1032036426ORPHA020013176603023
HP:0002094HP:0002875Exertional dyspnea1IKZF1 CL E G H1032036426ORPHA020013176603023
HP:0002094HP:0002098Respiratory distress1IKZF1 CL E G H1032036426ORPHA020013176603023
HP:0002094HP:0033710Rest dyspnea1IKZF1 CL E G H1032036426ORPHA020013176603023
HP:0002094HP:0033368Platypnea1IKZF1 CL E G H1032036426ORPHA020013176603023
HP:0002094HP:0002875Exertional dyspnea1NOD2 CL E G H6412790340ORPHA08855331605956
HP:0002094HP:0002098Respiratory distress1NOD2 CL E G H6412790340ORPHA08855331605956
HP:0002094HP:0033710Rest dyspnea1NOD2 CL E G H6412790340ORPHA08855331605956
HP:0002094HP:0033368Platypnea1NOD2 CL E G H6412790340ORPHA08855331605956
HP:0002094HP:0012763Paroxysmal dyspnea1NOD2 CL E G H6412790340ORPHA08855331605956
HP:0002094HP:0012764Orthopnea1NOD2 CL E G H6412790340ORPHA08855331605956
HP:0002094HP:0002875Exertional dyspnea1PGM1 CL E G H5236614921Congenital disorder of glycosylation type 1t614921C2752015OMIM04138905171900
HP:0002094HP:0002098Respiratory distress1PGM1 CL E G H5236614921Congenital disorder of glycosylation type 1t614921C2752015OMIM04138905171900
HP:0002094HP:0033710Rest dyspnea1PGM1 CL E G H5236614921Congenital disorder of glycosylation type 1t614921C2752015OMIM04138905171900
HP:0002094HP:0033368Platypnea1PGM1 CL E G H5236614921Congenital disorder of glycosylation type 1t614921C2752015OMIM04138905171900
HP:0002094HP:0012763Paroxysmal dyspnea1PGM1 CL E G H5236614921Congenital disorder of glycosylation type 1t614921C2752015OMIM04138905171900
HP:0002094HP:0012764Orthopnea1PGM1 CL E G H5236614921Congenital disorder of glycosylation type 1t614921C2752015OMIM04138905171900
HP:0002094HP:0012763Paroxysmal dyspnea1PNKD CL E G H2595398810Paroxysmal non-kinesigenic dyskinesiaC1869117ORPHA05219153609023
HP:0002094HP:0012764Orthopnea1PNKD CL E G H2595398810Paroxysmal non-kinesigenic dyskinesiaC1869117ORPHA05219153609023
HP:0002094HP:0033710Rest dyspnea1PNKD CL E G H2595398810Paroxysmal non-kinesigenic dyskinesiaC1869117ORPHA05219153609023
HP:0002094HP:0002875Exertional dyspnea1PNKD CL E G H2595398810Paroxysmal non-kinesigenic dyskinesiaC1869117ORPHA05219153609023
HP:0002094HP:0002098Respiratory distress1PNKD CL E G H2595398810Paroxysmal non-kinesigenic dyskinesiaC1869117ORPHA05219153609023
HP:0002094HP:0033368Platypnea1PNKD CL E G H2595398810Paroxysmal non-kinesigenic dyskinesiaC1869117ORPHA05219153609023
HP:0002094HP:0002875Exertional dyspnea1PRRT2 CL E G H11247698810Paroxysmal non-kinesigenic dyskinesiaC1869117ORPHA079930500614386
HP:0002094HP:0002098Respiratory distress1PRRT2 CL E G H11247698810Paroxysmal non-kinesigenic dyskinesiaC1869117ORPHA079930500614386
HP:0002094HP:0033710Rest dyspnea1PRRT2 CL E G H11247698810Paroxysmal non-kinesigenic dyskinesiaC1869117ORPHA079930500614386
HP:0002094HP:0033368Platypnea1PRRT2 CL E G H11247698810Paroxysmal non-kinesigenic dyskinesiaC1869117ORPHA079930500614386
HP:0002094HP:0012763Paroxysmal dyspnea1PRRT2 CL E G H11247698810Paroxysmal non-kinesigenic dyskinesiaC1869117ORPHA079930500614386
HP:0002094HP:0012764Orthopnea1PRRT2 CL E G H11247698810Paroxysmal non-kinesigenic dyskinesiaC1869117ORPHA079930500614386
HP:0002094HP:0002875Exertional dyspnea1SCN4A CL E G H632999735ORPHA0176510591603967
HP:0002094HP:0002098Respiratory distress1SCN4A CL E G H632999735ORPHA0176510591603967
HP:0002094HP:0033710Rest dyspnea1SCN4A CL E G H632999735ORPHA0176510591603967
HP:0002094HP:0012763Paroxysmal dyspnea1SCN4A CL E G H632999734ORPHA0176510591603967
HP:0002094HP:0033368Platypnea1SCN4A CL E G H632999735ORPHA0176510591603967
HP:0002094HP:0012764Orthopnea1SCN4A CL E G H632999734ORPHA0176510591603967
HP:0002094HP:0002098Respiratory distress1SCN4A CL E G H632999734ORPHA0176510591603967
HP:0002094HP:0033710Rest dyspnea1SCN4A CL E G H632999734ORPHA0176510591603967
HP:0002094HP:0012763Paroxysmal dyspnea1SCN4A CL E G H632999735ORPHA0176510591603967
HP:0002094HP:0002875Exertional dyspnea1SCN4A CL E G H632999734ORPHA0176510591603967
HP:0002094HP:0033368Platypnea1SCN4A CL E G H632999734ORPHA0176510591603967
HP:0002094HP:0012764Orthopnea1SCN4A CL E G H632999735ORPHA0176510591603967
HP:0002094HP:0002875Exertional dyspnea1STX16 CL E G H867594089ORPHA020911431603666
HP:0002094HP:0002098Respiratory distress1STX16 CL E G H867594089ORPHA020911431603666
HP:0002094HP:0033710Rest dyspnea1STX16 CL E G H867594089ORPHA020911431603666
HP:0002094HP:0033368Platypnea1STX16 CL E G H867594089ORPHA020911431603666
HP:0002094HP:0012763Paroxysmal dyspnea1STX16 CL E G H867594089ORPHA020911431603666
HP:0002094HP:0012764Orthopnea1STX16 CL E G H867594089ORPHA020911431603666
HP:0002094HP:0012764Orthopnea1TBX4 CL E G H9496261279ORPHA027411603601719
HP:0002094HP:0033710Rest dyspnea1TBX4 CL E G H9496261279ORPHA027411603601719
HP:0002094HP:0002875Exertional dyspnea1TBX4 CL E G H9496261279ORPHA027411603601719
HP:0002094HP:0002098Respiratory distress1TBX4 CL E G H9496261279ORPHA027411603601719
HP:0002094HP:0033368Platypnea1TBX4 CL E G H9496261279ORPHA027411603601719
HP:0002094HP:0012763Paroxysmal dyspnea1TBX4 CL E G H9496261279ORPHA027411603601719
HP:0002094HP:0012764Orthopnea1VCP CL E G H7415435387ORPHA060712666601023
HP:0002094HP:0002098Respiratory distress1VCP CL E G H7415435387ORPHA060712666601023
HP:0002094HP:0033710Rest dyspnea1VCP CL E G H7415435387ORPHA060712666601023
HP:0002094HP:0002875Exertional dyspnea1VCP CL E G H7415435387ORPHA060712666601023
HP:0002094HP:0033368Platypnea1VCP CL E G H7415435387ORPHA060712666601023
HP:0002094HP:0012763Paroxysmal dyspnea1VCP CL E G H7415435387ORPHA060712666601023
HP:0002094HP:0030863Nasal flaring2ALAS2 CL E G H21275563ORPHA0342397301300
HP:0002094HP:0030864Intercostal retractions2ALAS2 CL E G H21275563ORPHA0342397301300
HP:0002094HP:0004885Episodic respiratory distress2ALAS2 CL E G H21275563ORPHA0342397301300
HP:0002094HP:0030864Intercostal retractions2DNAJB6 CL E G H10049603511Limb-girdle muscular dystrophy, type 1E603511C3148763OMIM048714888611332
HP:0002094HP:0004885Episodic respiratory distress2DNAJB6 CL E G H10049603511Limb-girdle muscular dystrophy, type 1E603511C3148763OMIM048714888611332
HP:0002094HP:0030863Nasal flaring2DNAJB6 CL E G H10049603511Limb-girdle muscular dystrophy, type 1E603511C3148763OMIM048714888611332
HP:0002094HP:0030864Intercostal retractions2GLA CL E G H2717324Slti Salem syndromeORPHA010994296300644
HP:0002094HP:0004885Episodic respiratory distress2GLA CL E G H2717324Slti Salem syndromeORPHA010994296300644
HP:0002094HP:0030863Nasal flaring2GLA CL E G H2717324Slti Salem syndromeORPHA010994296300644
HP:0002094HP:0030864Intercostal retractions2GNAS CL E G H277894089ORPHA06444392139320
HP:0002094HP:0030864Intercostal retractions2GNAS CL E G H277879444ORPHA06444392139320
HP:0002094HP:0030863Nasal flaring2GNAS CL E G H277879443ORPHA06444392139320
HP:0002094HP:0004885Episodic respiratory distress2GNAS CL E G H277879444ORPHA06444392139320
HP:0002094HP:0004885Episodic respiratory distress2GNAS CL E G H277894089ORPHA06444392139320
HP:0002094HP:0030864Intercostal retractions2GNAS CL E G H277879443ORPHA06444392139320
HP:0002094HP:0030863Nasal flaring2GNAS CL E G H277879444ORPHA06444392139320
HP:0002094HP:0030863Nasal flaring2GNAS CL E G H277894089ORPHA06444392139320
HP:0002094HP:0004885Episodic respiratory distress2GNAS CL E G H277879443ORPHA06444392139320
HP:0002094HP:0030863Nasal flaring2HLA-B CL E G H310636426ORPHA0294932142830
HP:0002094HP:0030864Intercostal retractions2HLA-B CL E G H310636426ORPHA0294932142830
HP:0002094HP:0004885Episodic respiratory distress2HLA-B CL E G H310636426ORPHA0294932142830
HP:0002094HP:0030864Intercostal retractions2IKZF1 CL E G H1032036426ORPHA020013176603023
HP:0002094HP:0004885Episodic respiratory distress2IKZF1 CL E G H1032036426ORPHA020013176603023
HP:0002094HP:0030863Nasal flaring2IKZF1 CL E G H1032036426ORPHA020013176603023
HP:0002094HP:0030863Nasal flaring2NOD2 CL E G H6412790340ORPHA08855331605956
HP:0002094HP:0030864Intercostal retractions2NOD2 CL E G H6412790340ORPHA08855331605956
HP:0002094HP:0004885Episodic respiratory distress2NOD2 CL E G H6412790340ORPHA08855331605956
HP:0002094HP:0030863Nasal flaring2PGM1 CL E G H5236614921Congenital disorder of glycosylation type 1t614921C2752015OMIM04138905171900
HP:0002094HP:0030864Intercostal retractions2PGM1 CL E G H5236614921Congenital disorder of glycosylation type 1t614921C2752015OMIM04138905171900
HP:0002094HP:0004885Episodic respiratory distress2PGM1 CL E G H5236614921Congenital disorder of glycosylation type 1t614921C2752015OMIM04138905171900
HP:0002094HP:0030864Intercostal retractions2PNKD CL E G H2595398810Paroxysmal non-kinesigenic dyskinesiaC1869117ORPHA05219153609023
HP:0002094HP:0004885Episodic respiratory distress2PNKD CL E G H2595398810Paroxysmal non-kinesigenic dyskinesiaC1869117ORPHA05219153609023
HP:0002094HP:0030863Nasal flaring2PNKD CL E G H2595398810Paroxysmal non-kinesigenic dyskinesiaC1869117ORPHA05219153609023
HP:0002094HP:0030863Nasal flaring2PRRT2 CL E G H11247698810Paroxysmal non-kinesigenic dyskinesiaC1869117ORPHA079930500614386
HP:0002094HP:0030864Intercostal retractions2PRRT2 CL E G H11247698810Paroxysmal non-kinesigenic dyskinesiaC1869117ORPHA079930500614386
HP:0002094HP:0004885Episodic respiratory distress2PRRT2 CL E G H11247698810Paroxysmal non-kinesigenic dyskinesiaC1869117ORPHA079930500614386
HP:0002094HP:0030864Intercostal retractions2SCN4A CL E G H632999734ORPHA0176510591603967
HP:0002094HP:0004885Episodic respiratory distress2SCN4A CL E G H632999734ORPHA0176510591603967
HP:0002094HP:0030863Nasal flaring2SCN4A CL E G H632999735ORPHA0176510591603967
HP:0002094HP:0030864Intercostal retractions2SCN4A CL E G H632999735ORPHA0176510591603967
HP:0002094HP:0030863Nasal flaring2SCN4A CL E G H632999734ORPHA0176510591603967
HP:0002094HP:0004885Episodic respiratory distress2SCN4A CL E G H632999735ORPHA0176510591603967
HP:0002094HP:0030863Nasal flaring2STX16 CL E G H867594089ORPHA020911431603666
HP:0002094HP:0030864Intercostal retractions2STX16 CL E G H867594089ORPHA020911431603666
HP:0002094HP:0004885Episodic respiratory distress2STX16 CL E G H867594089ORPHA020911431603666
HP:0002094HP:0004885Episodic respiratory distress2TBX4 CL E G H9496261279ORPHA027411603601719
HP:0002094HP:0030863Nasal flaring2TBX4 CL E G H9496261279ORPHA027411603601719
HP:0002094HP:0030864Intercostal retractions2TBX4 CL E G H9496261279ORPHA027411603601719
HP:0002094HP:0004885Episodic respiratory distress2VCP CL E G H7415435387ORPHA060712666601023
HP:0002094HP:0030863Nasal flaring2VCP CL E G H7415435387ORPHA060712666601023
HP:0002094HP:0030864Intercostal retractions2VCP CL E G H7415435387ORPHA060712666601023


Genes (272) :ABCA3 ABCG5 ABCG8 ACTA2 ACVRL1 ADAMTS13 ADCY6 AGRN AIFM1 AK9 ALAS2 ALDH7A1 ANG ANXA11 APOB ARX ATP11A ATRX ATXN2 BMPER BMPR2 BTNL2 C9ORF72 C9orf72 CASR CAV1 CCN2 CCNF CCR6 CDC45 CDC6 CDT1 CFAP410 CHAT CHCHD10 CHMP2B CHRNA1 CHRNB1 CHRND CHRNE CNTNAP1 COA7 COA8 COL13A1 COL2A1 COLQ COQ7 COX10 COX14 COX20 COX6B1 COX7B COX8A CPT2 CREBBP CRLF1 CSF2RA CSF2RB CSPP1 CYB5R3 DAO DCTN1 DMPK DNA2 DNAAF3 DNAJB6 DNASE1L3 DOK7 DPM1 DPP9 DSC2 DSP EDA EDN1 EFEMP2 EFTUD2 EIF2AK4 ELN ENG EP300 EPHA4 EPHB4 EPOR ERBB4 ERF ETFA ETFB ETFDH FAM13A FAM20C FASTKD2 FBLN5 FBN1 FBP1 FGFR1 FGFR2 FIG4 FLNC FOXE3 FOXF1 FUS GAA GATA6 GBA GLA GLE1 GMNN GNAI3 GNAS GYG1 HBB HCCS HLA-B HLA-DRB1 HLCS HNRNPA1 IFT52 IFT81 IKZF1 IL1RN IRF5 ISCU ITGA3 JAK2 JPH2 KAT6A KCNA1 KCNJ6 LAMA3 LAMB2 LAMB3 LAMC2 LDLR LDLRAP1 LGI4 LIFR LOX LRP4 LYRM4 MARS MAT2A MATR3 MEGF10 MFAP5 MGME1 MMAA MMAB MMUT MPC1 MRPL3 MT-TK MUC5B MUSK MYH11 MYL2 MYL3 MYLK MYO9A NAGS NDUFB11 NEB NEFH NEK1 NGLY1 NKX2-1 NOD2 NPPA OAS1 OPTN ORC1 ORC4 ORC6 OTX2 PARN PCSK9 PET100 PFN1 PGM1 PIGT PLCB4 PLEC PNKD POLG POLG2 POMT1 PON1 PON2 PON3 PPARGC1A PRKAR1A PRKG1 PRPH PRRT2 PRRX1 PUF60 RAPSN RNU4ATAC RPS26 RPS28 RRM2B RTEL1 SCN4A SCN5A SCO1 SCO2 SDCCAG8 SERPINA1 SERPING1 SETBP1 SFTPA1 SFTPA2 SFTPB SFTPC SH2B3 SIK1 SLC18A3 SLC25A1 SLC25A3 SLC25A4 SLC2A10 SLC35A1 SLC52A3 SLC5A7 SMAD3 SMPD1 SNAP25 SOD1 SOX9 SQSTM1 STAT5B STN1 STT3B STX16 SYT2 TACO1 TAF15 TARDBP TBC1D24 TBK1 TBX4 TERC TERT TGFB2 TGFB3 TGFBR1 TGFBR2 TK2 TNNC1 TREM2 TRIP11 TRMT5 TRMU TRNE TRNK TRNN TRNS1 TSC1 TSC2 TTN TUBB4A TWNK UBE3B UBQLN2 UNC13A USP9X VAMP1 VAPB VCL VCP VPS33A WAS WIPF1

Diseases (169) :391665 600376 75563 803 308350 231401 178600 797 239200 220393 615343 272430 614370 615636 603511 36412 610476 234810 187300 229700 617047 232300 230800 324 79444 94089 79443 231214 36426 255125 613873 435628 79404 615486 352447 615084 614582 608758 90340 615745 613803 614921 615399 98810 2636 99734 99735 113900 613490 265120 615182 607616 261279 613243 1349 538 613255 435387 906 2032 610921 91387 274150 2680 98913 238329 266100 66637 608022 2554 254210 605809 220110 436271 485 93346 156550 183900 98915 616733 2556 608836 180849 264675 250800 273 160900 352470 615156 606763 608799 305100 137888 90349 610536 617300 90042 617180 231680 1832 166250 93260 1555 93259 123790 210122 2255 77260 608013 263297 79242 617102 617895 612852 614748 133100 616268 37612 3206 615595 614399 251100 251110 289916 79312 614741 229 608751 237310 399103 615273 610978 224690 990 254361 254892 86812 615 202650 508488 613309 606164 604377 615993 100050 798 178500 610913 616341 91130 3342 238459 211530 114290 245590 370924 615597 79500 254875 184260 616539 254864 2596 178464 98805 2707 300968 617303 98914
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.