Human Phenotype Ontology 
Grandparent Node:
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Functional respiratory abnormality (HP:0002795)help
Parent Node:
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Respiratory insufficiency (HP:0002093)help
..Starting node
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Respiratory failure (HP:0002878)help
Term ID: 2878
Name: Respiratory failure
Synonym: Respiratory failure
Definition: A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits.
Comments:
Reference: HP:0002878
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandIntercostal muscle weakness (HP:0004878) help
..expandNeonatal respiratory distress (HP:0002643) help
..expandRespiratory arrest (HP:0005943) help
..expandRespiratory failure requiring assisted ventilation (HP:0004887) help
..expandRespiratory insufficiency due to defective ciliary clearance (HP:0200073) help
..expandRespiratory insufficiency due to muscle weakness (HP:0002747) help
..expandRestrictive deficit on pulmonary function testing (HP:0002111) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0002878HP:0002878Respiratory failure0ABCA3 CL E G H21610921Surfactant metabolism dysfunction, pulmonary, 3610921C1970456OMIM128940233601615
HP:0002878HP:0002878Respiratory failure0ACTA1 CL E G H58171433ORPHA1217318129102610
HP:0002878HP:0002878Respiratory failure0ACTA1 CL E G H58171430ORPHA1217318129102610
HP:0002878HP:0002878Respiratory failure0ACVR1 CL E G H90135100Progressive myositis ossificans135100C0016037OMIM120122171102576
HP:0002878HP:0002878Respiratory failure0ANG CL E G H283803ORPHA14084483105850
HP:0002878HP:0002878Respiratory failure0ANXA11 CL E G H311803ORPHA11493535602572
HP:0002878HP:0002878Respiratory failure0ASCC1 CL E G H51008616867Spinal muscular atrophy with congenital bone fractures 2616867C4225176OMIM156224268614215
HP:0002878HP:0002878Respiratory failure0ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM132725903614452
HP:0002878HP:0002878Respiratory failure0ATXN2 CL E G H6311803ORPHA1444910555601517
HP:0002878HP:0002878Respiratory failure0BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM1372461020603647
HP:0002878HP:0002878Respiratory failure0BICD2 CL E G H23299618291618291618291OMIM13543617208609797
HP:0002878HP:0002878Respiratory failure0BOLA3 CL E G H388962614299Multiple mitochondrial dysfunctions syndrome 2614299C3280378OMIM166324415613183
HP:0002878HP:0002878Respiratory failure0C9orf72 CL E G H203228803ORPHA12416028337614260
HP:0002878HP:0002878Respiratory failure0CCNF CL E G H899803ORPHA1211081591600227
HP:0002878HP:0002878Respiratory failure0CDC45 CL E G H83182554ORPHA1194961739603465
HP:0002878HP:0002878Respiratory failure0CDC6 CL E G H9902554ORPHA14711744602627
HP:0002878HP:0002878Respiratory failure0CDT1 CL E G H816202554ORPHA11220724576605525
HP:0002878HP:0002878Respiratory failure0CFAP410 CL E G H755803ORPHA12661260603191
HP:0002878HP:0002878Respiratory failure0CHCHD10 CL E G H400916803ORPHA12720215559615903
HP:0002878HP:0002878Respiratory failure0CHMP2B CL E G H25978803ORPHA12210924537609512
HP:0002878HP:0002878Respiratory failure0COL12A1 CL E G H130375840ORPHA11513092188120320
HP:0002878HP:0002878Respiratory failure0COL6A1 CL E G H129175840ORPHA113711922211120220
HP:0002878HP:0002878Respiratory failure0COL6A2 CL E G H129275840ORPHA119113552212120240
HP:0002878HP:0002878Respiratory failure0COL6A3 CL E G H129375840ORPHA114319362213120250
HP:0002878HP:0002878Respiratory failure0COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM1132452260602125
HP:0002878HP:0002878Respiratory failure0COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM152152263603646
HP:0002878HP:0002878Respiratory failure0CPT2 CL E G H1376608836Carnitine palmitoyltransferase II deficiency, lethal neonatal608836C1833518OMIM11135012330600650
HP:0002878HP:0002878Respiratory failure0CRYAB CL E G H1410613869Fatal infantile hypertonic myofibrillar myopathy613869C3151236OMIM1301712389123590
HP:0002878HP:0002878Respiratory failure0CTSD CL E G H1509610127Ceroid lipofuscinosis neuronal 10610127C1864669OMIM1194102529116840
HP:0002878HP:0002878Respiratory failure0DAG1 CL E G H1605616538Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9616538C4225291OMIM1113732666128239
HP:0002878HP:0002878Respiratory failure0DAO CL E G H1610803ORPHA111472671124050
HP:0002878HP:0002878Respiratory failure0DCTN1 CL E G H1639803ORPHA1575622711601143
HP:0002878HP:0002878Respiratory failure0DMD CL E G H1756310200Duchenne muscular dystrophy310200C0013264OMIM1397050242928300377
HP:0002878HP:0002878Respiratory failure0EPHA4 CL E G H2043803ORPHA14513388602188
HP:0002878HP:0002878Respiratory failure0ERBB3 CL E G H2065607598Lethal congenital contracture syndrome 2607598C1843478OMIM14853431190151
HP:0002878HP:0002878Respiratory failure0ERBB4 CL E G H2066803ORPHA1251993432600543
HP:0002878HP:0002878Respiratory failure0EXOSC8 CL E G H11340616081Pontocerebellar hypoplasia, type 1c616081C4015160OMIM137417035606019
HP:0002878HP:0002878Respiratory failure0FAM20C CL E G H569751832Diabetes hypogonadism deafness mental retardationORPHA12823922140611061
HP:0002878HP:0002878Respiratory failure0FIG4 CL E G H9896803ORPHA17155316873609390
HP:0002878HP:0002878Respiratory failure0FLNA CL E G H2316304120Oto-palato-digital syndrome, type II304120C1844696OMIM127118133754300017
HP:0002878HP:0002878Respiratory failure0FUS CL E G H2521803ORPHA11133184010137070
HP:0002878HP:0002878Respiratory failure0GATA2 CL E G H26243226Lethal chondrodysplasia Seller typeORPHA11518394171137295
HP:0002878HP:0002878Respiratory failure0GLE1 CL E G H2733803ORPHA1182984315603371
HP:0002878HP:0002878Respiratory failure0GMNN CL E G H510532554ORPHA133917493602842
HP:0002878HP:0002878Respiratory failure0HADHA CL E G H3030609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM1714734801600890
HP:0002878HP:0002878Respiratory failure0HADHB CL E G H3032609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM1672094803143450
HP:0002878HP:0002878Respiratory failure0HNRNPA1 CL E G H3178803ORPHA112585031164017
HP:0002878HP:0002878Respiratory failure0HRAS CL E G H3265218040Costello syndrome218040C0587248OMIM1344065173190020
HP:0002878HP:0002878Respiratory failure0HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM1149414348606441
HP:0002878HP:0002878Respiratory failure0IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM12313827302615316
HP:0002878HP:0002878Respiratory failure0IFT81 CL E G H28981617895SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY617895CN842245OMIM11015014313605489
HP:0002878HP:0002878Respiratory failure0IGHMBP2 CL E G H3508604320Spinal muscular atrophy, distal, autosomal recessive, 1604320C1858517OMIM11438335542600502
HP:0002878HP:0002878Respiratory failure0INVS CL E G H27130602088Infantile nephronophthisis602088C1865872OMIM13543817870243305
HP:0002878HP:0002878Respiratory failure0KLHL40 CL E G H131377171430ORPHA12626430372615340
HP:0002878HP:0002878Respiratory failure0KLHL40 CL E G H131377615348Nemaline myopathy 8615348C3809209OMIM12626430372615340
HP:0002878HP:0002878Respiratory failure0KLHL41 CL E G H10324171433ORPHA1915316905607701
HP:0002878HP:0002878Respiratory failure0KLHL41 CL E G H10324171430ORPHA1915316905607701
HP:0002878HP:0002878Respiratory failure0LAMA2 CL E G H3908258Schmitt Gillenwater Kelly syndromeORPHA138022816482156225
HP:0002878HP:0002878Respiratory failure0LMOD3 CL E G H56203171430ORPHA1182386649616112
HP:0002878HP:0002878Respiratory failure0LTBP3 CL E G H4054617809GELEOPHYSIC DYSPLASIA 3617809C4540511OMIM1131386716602090
HP:0002878HP:0002878Respiratory failure0LYRM7 CL E G H90624615838Mitochondrial complex III deficiency, nuclear type 8615838C4014440OMIM196228072615831
HP:0002878HP:0002878Respiratory failure0MATR3 CL E G H9782803ORPHA1162456912164015
HP:0002878HP:0002878Respiratory failure0MEGF10 CL E G H84466614399Myopathy, areflexia, respiratory distress, and dysphagia, early-onset614399C3280679OMIM11963729634612453
HP:0002878HP:0002878Respiratory failure0MGME1 CL E G H92667352447ORPHA176816205615076
HP:0002878HP:0002878Respiratory failure0MTM1 CL E G H4534310400Severe X-linked myotubular myopathy310400C0410203OMIM13276067448300415
HP:0002878HP:0002878Respiratory failure0NDUFAF2 CL E G H91942618233MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10618233OMIM1810028086609653
HP:0002878HP:0002878Respiratory failure0NDUFAF3 CL E G H25915618240MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18618240OMIM197829918612911
HP:0002878HP:0002878Respiratory failure0NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM117977711602694
HP:0002878HP:0002878Respiratory failure0NEB CL E G H4703171430ORPHA132145957720161650
HP:0002878HP:0002878Respiratory failure0NEB CL E G H4703171433ORPHA132145957720161650
HP:0002878HP:0002878Respiratory failure0NEFH CL E G H4744803ORPHA1251457737162230
HP:0002878HP:0002878Respiratory failure0NEK1 CL E G H4750803ORPHA1304127744604588
HP:0002878HP:0002878Respiratory failure0NFU1 CL E G H27247605711Multiple mitochondrial dysfunctions syndrome 1605711C3276432OMIM11511416287608100
HP:0002878HP:0002878Respiratory failure0NPC2 CL E G H10577607625Niemann-Pick disease type C2607625C1843366OMIM12712614537601015
HP:0002878HP:0002878Respiratory failure0OPTN CL E G H10133803ORPHA17223517142602432
HP:0002878HP:0002878Respiratory failure0ORC1 CL E G H49982554ORPHA1121438487601902
HP:0002878HP:0002878Respiratory failure0ORC4 CL E G H50002554ORPHA161158490603056
HP:0002878HP:0002878Respiratory failure0ORC6 CL E G H235942554ORPHA1610117151607213
HP:0002878HP:0002878Respiratory failure0PEX6 CL E G H5190614862Peroxisome biogenesis disorder 4a (zellweger)614862C3553936OMIM11096398859601498
HP:0002878HP:0002878Respiratory failure0PFN1 CL E G H5216803ORPHA19698881176610
HP:0002878HP:0002878Respiratory failure0PON1 CL E G H5444803ORPHA122569204168820
HP:0002878HP:0002878Respiratory failure0PON2 CL E G H5445803ORPHA14479205602447
HP:0002878HP:0002878Respiratory failure0PON3 CL E G H5446803ORPHA15459206602720
HP:0002878HP:0002878Respiratory failure0PPARGC1A CL E G H10891803ORPHA110479237604517
HP:0002878HP:0002878Respiratory failure0PRPH CL E G H5630803ORPHA110509461170710
HP:0002878HP:0002878Respiratory failure0PSAP CL E G H5660611722Krabbe disease atypical due to Saposin A deficiency611722C2673266OMIM1273889498176801
HP:0002878HP:0002878Respiratory failure0RNU4ATAC CL E G H1001516832636Hemihypertrophy intestinal web corneal opacityORPHA1247634016601428
HP:0002878HP:0002878Respiratory failure0SARS2 CL E G H54938613845Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis613845C3151209OMIM1517217697612804
HP:0002878HP:0002878Respiratory failure0SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM191153810680600857
HP:0002878HP:0002878Respiratory failure0SFTPB CL E G H6439265120Surfactant metabolism dysfunction, pulmonary, 1265120C1968602OMIM13112910801178640
HP:0002878HP:0002878Respiratory failure0SLC25A26 CL E G H115286616794Combined oxidative phosphorylation deficiency 28616794C4225206OMIM148020661611037
HP:0002878HP:0002878Respiratory failure0SLC6A9 CL E G H6536617301Glycine encephalopathy with normal serum glycine617301C4310943OMIM139111056601019
HP:0002878HP:0002878Respiratory failure0SMN1 CL E G H6606253300Werdnig-Hoffmann disease253300C0043116OMIM111220111117600354
HP:0002878HP:0002878Respiratory failure0SOD1 CL E G H6647803ORPHA121720611179147450
HP:0002878HP:0002878Respiratory failure0SQSTM1 CL E G H8878803ORPHA19837811280601530
HP:0002878HP:0002878Respiratory failure0SUCLG1 CL E G H8802245400Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)245400C3151476OMIM12815911449611224
HP:0002878HP:0002878Respiratory failure0SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM112823811474185620
HP:0002878HP:0002878Respiratory failure0TAF15 CL E G H8148803ORPHA1127611547601574
HP:0002878HP:0002878Respiratory failure0TARDBP CL E G H23435803ORPHA17021411571605078
HP:0002878HP:0002878Respiratory failure0TBK1 CL E G H29110803ORPHA113719611584604834
HP:0002878HP:0002878Respiratory failure0TK2 CL E G H7084254875ORPHA16022811831188250
HP:0002878HP:0002878Respiratory failure0TMEM70 CL E G H549681194ORPHA11817626050612418
HP:0002878HP:0002878Respiratory failure0TPM3 CL E G H7170171433ORPHA12825612012191030
HP:0002878HP:0002878Respiratory failure0TREM2 CL E G H54209803ORPHA1566417761605086
HP:0002878HP:0002878Respiratory failure0TRPV4 CL E G H59341606071Charcot-Marie-Tooth disease type 2C606071C2079540OMIM18268718083605427
HP:0002878HP:0002878Respiratory failure0TRPV4 CL E G H59341156530Metatrophic dysplasia156530C0265281OMIM18268718083605427
HP:0002878HP:0002878Respiratory failure0TSEN54 CL E G H283989225753Pontocerebellar hypoplasia type 4225753C1856974OMIM12121027561608755
HP:0002878HP:0002878Respiratory failure0TSFM CL E G H10102610505Combined oxidative phosphorylation deficiency 3610505C1864840OMIM1718012367604723
HP:0002878HP:0002878Respiratory failure0TUFM CL E G H7284610678Combined oxidative phosphorylation deficiency 4610678C1857682OMIM1722612420602389
HP:0002878HP:0002878Respiratory failure0UBE3B CL E G H899102707ORPHA1256213478608047
HP:0002878HP:0002878Respiratory failure0UBQLN2 CL E G H29978803ORPHA13119512509300264
HP:0002878HP:0002878Respiratory failure0UNC13A CL E G H23025803ORPHA1116523150609894
HP:0002878HP:0002878Respiratory failure0VAPB CL E G H9217803ORPHA11027212649605704
HP:0002878HP:0002878Respiratory failure0VCP CL E G H7415803ORPHA16534512666601023
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002878HP:0002878Respiratory failure0AGRN CL E G H37579098913ORPHA0181303329103320
HP:0002878HP:0002878Respiratory failure0AHCY CL E G H19188618ORPHA015110343180960
HP:0002878HP:0002878Respiratory failure0AK9 CL E G H22126498913ORPHA034433814615358
HP:0002878HP:0002878Respiratory failure0ATXN1 CL E G H631098755ORPHA077410548601556
HP:0002878HP:0002878Respiratory failure0BSCL2 CL E G H26580363400ORPHA05032115832606158
HP:0002878HP:0002878Respiratory failure0CHRNA1 CL E G H113498913ORPHA0363081955100690
HP:0002878HP:0002878Respiratory failure0CHRNB1 CL E G H114098913ORPHA0112771961100710
HP:0002878HP:0002878Respiratory failure0CHRND CL E G H114498913ORPHA0263221965100720
HP:0002878HP:0002878Respiratory failure0CHRNE CL E G H114598913ORPHA01385911966100725
HP:0002878HP:0002878Respiratory failure0COL13A1 CL E G H130598913ORPHA031752190120350
HP:0002878HP:0002878Respiratory failure0COX7B CL E G H13492556ORPHA051682291300885
HP:0002878HP:0002878Respiratory failure0DOK7 CL E G H28548998913ORPHA07564126594610285
HP:0002878HP:0002878Respiratory failure0HADHA CL E G H3030746Apert like polydactyly syndromeORPHA0714734801600890
HP:0002878HP:0002878Respiratory failure0HADHB CL E G H3032746Apert like polydactyly syndromeORPHA0672094803143450
HP:0002878HP:0002878Respiratory failure0HCCS CL E G H30522556ORPHA0142134837300056
HP:0002878HP:0002878Respiratory failure0LAMA3 CL E G H390979404ORPHA0558036483600805
HP:0002878HP:0002878Respiratory failure0LAMB3 CL E G H391479404ORPHA01216206490150310
HP:0002878HP:0002878Respiratory failure0LAMC2 CL E G H391879404ORPHA0415466493150292
HP:0002878HP:0002878Respiratory failure0LRP4 CL E G H403898913ORPHA0345266696604270
HP:0002878HP:0002878Respiratory failure0MCM4 CL E G H4173609981Natural killer cell and glucocorticoid deficiency with DNA repair defect609981C1864947OMIM051906947602638
HP:0002878HP:0002878Respiratory failure0MUSK CL E G H459398913ORPHA0223807525601296
HP:0002878HP:0002878Respiratory failure0MYOT CL E G H9499266ORPHA01624612399604103
HP:0002878HP:0002878Respiratory failure0NBN CL E G H4683647ORPHA014823817652602667
HP:0002878HP:0002878Respiratory failure0NDUFB11 CL E G H545392556ORPHA0617720372300403
HP:0002878HP:0002878Respiratory failure0RAPSN CL E G H591398913ORPHA0603189863601592
HP:0002878HP:0002878Respiratory failure0RNF168 CL E G H165918420741ORPHA0614226661612688
HP:0002878HP:0002878Respiratory failure0RYR1 CL E G H626198905ORPHA0688403410483180901
HP:0002878HP:0002878Respiratory failure0SCN4A CL E G H632998913ORPHA0129105610591603967
HP:0002878HP:0002878Respiratory failure0SLC2A10 CL E G H810313342ORPHA03538713444606145
HP:0002878HP:0002878Respiratory failure0SMAD4 CL E G H4089139210Myhre syndrome139210C0796081OMIM014714006770600993
HP:0002878HP:0002878Respiratory failure0SON CL E G H6651500150ORPHA02830011183182465


Genes (139) :ABCA3 ACTA1 ACVR1 AGRN AHCY AK9 ANG ANXA11 ASCC1 ATAD1 ATXN1 ATXN2 BCS1L BICD2 BOLA3 BSCL2 C9ORF72 C9orf72 CCNF CDC45 CDC6 CDT1 CFAP410 CHCHD10 CHMP2B CHRNA1 CHRNB1 CHRND CHRNE COL12A1 COL13A1 COL6A1 COL6A2 COL6A3 COX10 COX15 COX7B CPT2 CRYAB CTSD DAG1 DAO DCTN1 DMD DOK7 EPHA4 ERBB3 ERBB4 EXOSC8 FAM20C FIG4 FLNA FUS GATA2 GLE1 GMNN HADHA HADHB HCCS HNRNPA1 HRAS HTRA2 IBA57 IFT81 IGHMBP2 INVS KLHL40 KLHL41 LAMA2 LAMA3 LAMB3 LAMC2 LMOD3 LRP4 LTBP3 LYRM7 MATR3 MCM4 MEGF10 MGME1 MTM1 MUSK MYOT NBN NDUFAF2 NDUFAF3 NDUFB11 NDUFS4 NEB NEFH NEK1 NFU1 NPC2 OPTN ORC1 ORC4 ORC6 PEX6 PFN1 PON1 PON2 PON3 PPARGC1A PRPH PSAP RAPSN RNF168 RNU4ATAC RYR1 SARS2 SCN4A SDHA SFTPB SLC25A26 SLC2A10 SLC6A9 SMAD4 SMN1 SOD1 SON SQSTM1 SUCLG1 SURF1 TAF15 TARDBP TBK1 TK2 TMEM70 TPM3 TREM2 TRPV4 TSEN54 TSFM TUFM UBE3B UBQLN2 UNC13A VAPB VCP

Diseases (73) :610921 171430 171433 135100 98913 88618 803 616867 618011 98755 256000 618291 614299 363400 2554 75840 2556 608836 613869 610127 616538 310200 607598 616081 1832 304120 3226 746 609015 218040 617248 615330 617895 604320 602088 615348 258 79404 617809 615838 609981 614399 352447 310400 266 647 618233 618240 252010 605711 607625 614862 611722 420741 2636 98905 613845 265120 616794 3342 617301 139210 253300 500150 245400 254875 1194 606071 156530 225753 610505 610678 2707
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.