Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the respiratory system (HP:0002086)help
Parent Node:
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Abnormal respiratory system physiology (HP:0002795)help
..Starting node
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Respiratory insufficiency (HP:0002093)help
Term ID: 2093
Name: Respiratory insufficiency
Synonym: progressive respiratory failure; Respiratory function loss; Respiratory impairment
Definition:
Comments:
Reference: HP:0002093
Genes and Diseases:
 
       Child Nodes:
........expandRestrictive deficit on pulmonary function testing (HP:0002111) help
........expandNeonatal respiratory distress (HP:0002643) help
................... HP:0004875 Neonatal inspiratory stridor
................... HP:0012768 Neonatal asphyxia
........expandRespiratory insufficiency due to muscle weakness (HP:0002747) help
................... HP:0004889 Intermittent episodes of respiratory insufficiency due to muscle weakness
........expandRespiratory failure (HP:0002878) help
........expandIntercostal muscle weakness (HP:0004878) help
........expandRespiratory failure requiring assisted ventilation (HP:0004887) help
................... HP:0005946 Ventilator dependence with inability to wean
........expandRespiratory arrest (HP:0005943) help
................... HP:0006543 Cardiorespiratory arrest
........expandRespiratory insufficiency due to defective ciliary clearance (HP:0200073) 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
..expandDyspnea (HP:0002094) help
..expandRecurrent singultus (HP:0100247) help
..expandReduced vital capacity (HP:0002792) 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:0002093HP:0002093Respiratory insufficiency0ACE CL E G H1636267430Renal dysplasia267430C3536714OMIM13242707106180
HP:0002093HP:0002093Respiratory insufficiency0ACOX1 CL E G H512971ORPHA1517119609751
HP:0002093HP:0002093Respiratory insufficiency0ACTA1 CL E G H5897244ORPHA1392129102610
HP:0002093HP:0002093Respiratory insufficiency0ACTA1 CL E G H58171436ORPHA1392129102610
HP:0002093HP:0002093Respiratory insufficiency0ACTA1 CL E G H58255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1392129102610
HP:0002093HP:0002093Respiratory insufficiency0ACVR1 CL E G H90337ORPHA1169171102576
HP:0002093HP:0002093Respiratory insufficiency0AGK CL E G H55750212350Cataract and cardiomyopathy212350C1859317OMIM124221869610345
HP:0002093HP:0002093Respiratory insufficiency0AGT CL E G H183267430Renal dysplasia267430C3536714OMIM1161333106150
HP:0002093HP:0002093Respiratory insufficiency0AGTR1 CL E G H185267430Renal dysplasia267430C3536714OMIM1107336106165
HP:0002093HP:0002093Respiratory insufficiency0AIFM1 CL E G H9131238329ORPHA14878768300169
HP:0002093HP:0002093Respiratory insufficiency0ALMS1 CL E G H784064ORPHA14321428606844
HP:0002093HP:0002093Respiratory insufficiency0ASAH1 CL E G H427333ORPHA1712735613468
HP:0002093HP:0002093Respiratory insufficiency0ASAH1 CL E G H427228000Farber disease228000C0268255OMIM1712735613468
HP:0002093HP:0002093Respiratory insufficiency0ASNS CL E G H440615574Asparagine synthetase deficiency615574C3809971OMIM1432753108370
HP:0002093HP:0002093Respiratory insufficiency0BAG3 CL E G H9531612954Myofibrillar myopathy, BAG3-related612954C2751831OMIM1856939603883
HP:0002093HP:0002093Respiratory insufficiency0BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM13341020603647
HP:0002093HP:0002093Respiratory insufficiency0BDNF CL E G H627661ORPHA1571033113505
HP:0002093HP:0002093Respiratory insufficiency0BIN1 CL E G H274169186ORPHA15521052601248
HP:0002093HP:0002093Respiratory insufficiency0BMPER CL E G H168667608022Diaphanospondylodysostosis608022C1842691OMIM124424154608699
HP:0002093HP:0002093Respiratory insufficiency0CEP120 CL E G H153241474ORPHA130526690613446
HP:0002093HP:0002093Respiratory insufficiency0CEP120 CL E G H153241616300Short-rib thoracic dysplasia 13 with or without polydactyly616300C4225378OMIM130526690613446
HP:0002093HP:0002093Respiratory insufficiency0CFL2 CL E G H1073171436ORPHA11471875601443
HP:0002093HP:0002093Respiratory insufficiency0CHRNB1 CL E G H1140616314Myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency616314C4225373OMIM13571961100710
HP:0002093HP:0002093Respiratory insufficiency0CHRND CL E G H1144616321Myasthenic syndrome, congenital, 3a, slow-channel616321C4225372OMIM14081965100720
HP:0002093HP:0002093Respiratory insufficiency0CHRND CL E G H1144616322Myasthenic syndrome, congenital, 3b, fast-channel616322C4225371OMIM14081965100720
HP:0002093HP:0002093Respiratory insufficiency0CHRND CL E G H1144616323Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency616323C4225370OMIM14081965100720
HP:0002093HP:0002093Respiratory insufficiency0CHRNE CL E G H1145616324Myasthenic syndrome, congenital, 4b, fast-channel616324C4225369OMIM17951966100725
HP:0002093HP:0002093Respiratory insufficiency0CLCF1 CL E G H235291545Corsello Opitz syndromeORPHA13317412607672
HP:0002093HP:0002093Respiratory insufficiency0CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM12678011602346
HP:0002093HP:0002093Respiratory insufficiency0COL11A1 CL E G H13012021ORPHA116712186120280
HP:0002093HP:0002093Respiratory insufficiency0COL11A2 CL E G H13022021ORPHA112402187120290
HP:0002093HP:0002093Respiratory insufficiency0COL12A1 CL E G H1303616470Ullrich congenital muscular dystrophy 2616470C4225314OMIM119442188120320
HP:0002093HP:0002093Respiratory insufficiency0COL13A1 CL E G H1305616720Myasthenic syndrome, congenital, 19616720C4225235OMIM13972190120350
HP:0002093HP:0002093Respiratory insufficiency0COL1A1 CL E G H1277166210Osteogenesis imperfecta, recessive perinatal lethal166210C0268360OMIM120162197120150
HP:0002093HP:0002093Respiratory insufficiency0COL1A2 CL E G H1278166210Osteogenesis imperfecta, recessive perinatal lethal166210C0268360OMIM114582198120160
HP:0002093HP:0002093Respiratory insufficiency0COL3A1 CL E G H1281286Imaizumi Kuroki syndromeORPHA122742201120180
HP:0002093HP:0002093Respiratory insufficiency0COL5A1 CL E G H1289286Imaizumi Kuroki syndromeORPHA125312209120215
HP:0002093HP:0002093Respiratory insufficiency0COLQ CL E G H8292603034Endplate acetylcholinesterase deficiency603034C1864233OMIM14652226603033
HP:0002093HP:0002093Respiratory insufficiency0COQ4 CL E G H51117616276Coenzyme Q10 deficiency, primary, 7616276C4225392OMIM120919693612898
HP:0002093HP:0002093Respiratory insufficiency0COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM118325302612837
HP:0002093HP:0002093Respiratory insufficiency0COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM12932260602125
HP:0002093HP:0002093Respiratory insufficiency0COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM12512263603646
HP:0002093HP:0002093Respiratory insufficiency0CPS1 CL E G H1373147ORPHA111522323608307
HP:0002093HP:0002093Respiratory insufficiency0CPT2 CL E G H1376228308ORPHA17202330600650
HP:0002093HP:0002093Respiratory insufficiency0CPT2 CL E G H1376608836Carnitine palmitoyltransferase II deficiency, lethal neonatal608836C1833518OMIM17202330600650
HP:0002093HP:0002093Respiratory insufficiency0CRLF1 CL E G H92441545Corsello Opitz syndromeORPHA1802364604237
HP:0002093HP:0002093Respiratory insufficiency0CSF2RB CL E G H1439614370Surfactant metabolism dysfunction, pulmonary, 5614370C3280574OMIM13612436138981
HP:0002093HP:0002093Respiratory insufficiency0CTLA4 CL E G H1493900ORPHA11902505123890
HP:0002093HP:0002093Respiratory insufficiency0CTSD CL E G H1509610127Ceroid lipofuscinosis neuronal 10610127C1864669OMIM15272529116840
HP:0002093HP:0002093Respiratory insufficiency0CYP27A1 CL E G H1593213700Cholestanol storage disease213700C0238052OMIM17512605606530
HP:0002093HP:0002093Respiratory insufficiency0DCTN1 CL E G H1639168605Perry syndrome168605C1868594OMIM18582711601143
HP:0002093HP:0002093Respiratory insufficiency0DLL3 CL E G H106832311Autosomal recessive spondylocostal dysostosisCN043670ORPHA12482909602768
HP:0002093HP:0002093Respiratory insufficiency0DMD CL E G H175698896ORPHA173702928300377
HP:0002093HP:0002093Respiratory insufficiency0DMD CL E G H1756310200Duchenne muscular dystrophy310200C0013264OMIM173702928300377
HP:0002093HP:0002093Respiratory insufficiency0DNM2 CL E G H1785615368Lethal congenital contracture syndrome 5615368C3809272OMIM18852974602378
HP:0002093HP:0002093Respiratory insufficiency0DOK7 CL E G H285489994ORPHA184026594610285
HP:0002093HP:0002093Respiratory insufficiency0DST CL E G H667614653Neuropathy, hereditary sensory and autonomic, type VI614653C3539003OMIM129271090113810
HP:0002093HP:0002093Respiratory insufficiency0DYNC2H1 CL E G H7965993271ORPHA115212962603297
HP:0002093HP:0002093Respiratory insufficiency0DYNC2H1 CL E G H79659474ORPHA115212962603297
HP:0002093HP:0002093Respiratory insufficiency0DYNC2LI1 CL E G H51626474ORPHA141424595617083
HP:0002093HP:0002093Respiratory insufficiency0DZIP1L CL E G H199221731ORPHA19026551617570
HP:0002093HP:0002093Respiratory insufficiency0EDN3 CL E G H1908661ORPHA11553178131242
HP:0002093HP:0002093Respiratory insufficiency0EXOSC3 CL E G H51010614678Pontocerebellar hypoplasia, type 1b614678C3553449OMIM119017944606489
HP:0002093HP:0002093Respiratory insufficiency0EXOSC9 CL E G H5393618065PONTOCEREBELLAR HYPOPLASIA, TYPE 1D618065CN252648OMIM11569137606180
HP:0002093HP:0002093Respiratory insufficiency0FBN1 CL E G H2200614185Geleophysic dysplasia 2614185C3280054OMIM159703603134797
HP:0002093HP:0002093Respiratory insufficiency0FGFR1 CL E G H22602117Encephalopathy recurrent of childhoodORPHA16883688136350
HP:0002093HP:0002093Respiratory insufficiency0FGFR3 CL E G H22611860ORPHA17463690134934
HP:0002093HP:0002093Respiratory insufficiency0FGFR3 CL E G H226193274ORPHA17463690134934
HP:0002093HP:0002093Respiratory insufficiency0FGFR3 CL E G H2261187600Thanatophoric dysplasia type 1187600C1868678OMIM17463690134934
HP:0002093HP:0002093Respiratory insufficiency0FGFR3 CL E G H2261187601Thanatophoric dysplasia, type 2187601C1300257OMIM17463690134934
HP:0002093HP:0002093Respiratory insufficiency0FHL1 CL E G H2273300696Myopathy with postural muscle atrophy, X-linked300696C2678055OMIM15173702300163
HP:0002093HP:0002093Respiratory insufficiency0FKBP10 CL E G H606812771Hydrocephalus costovertebral dysplasia Sprengel anomalyORPHA129218169607063
HP:0002093HP:0002093Respiratory insufficiency0FKRP CL E G H79147613153Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5613153C3150413OMIM178717997606596
HP:0002093HP:0002093Respiratory insufficiency0FKTN CL E G H2218253800Fukuyama congenital muscular dystrophy253800C0410174OMIM17833622607440
HP:0002093HP:0002093Respiratory insufficiency0FLAD1 CL E G H80308255100Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency255100C4310822OMIM112124671610595
HP:0002093HP:0002093Respiratory insufficiency0FLNA CL E G H2316304120Oto-palato-digital syndrome, type II304120C1844696OMIM125383754300017
HP:0002093HP:0002093Respiratory insufficiency0FLNB CL E G H231756305ORPHA111553755603381
HP:0002093HP:0002093Respiratory insufficiency0FLNC CL E G H2318609524Myofibrillar myopathy, filamin C-related609524C1836050OMIM134553756102565
HP:0002093HP:0002093Respiratory insufficiency0G6PC3 CL E G H92579612541Severe congenital neutropenia 4, autosomal recessive612541C2675526OMIM121824861611045
HP:0002093HP:0002093Respiratory insufficiency0GAA CL E G H2548232300Glycogen storage disease, type II232300C0017921OMIM120684065606800
HP:0002093HP:0002093Respiratory insufficiency0GDNF CL E G H2668661ORPHA11314232600837
HP:0002093HP:0002093Respiratory insufficiency0GLUL CL E G H2752610015Glutamine deficiency, congenital610015C1864910OMIM12204341138290
HP:0002093HP:0002093Respiratory insufficiency0HADHA CL E G H3030609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM16304801600890
HP:0002093HP:0002093Respiratory insufficiency0HADHB CL E G H3032609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM12634803143450
HP:0002093HP:0002093Respiratory insufficiency0HES7 CL E G H846672311Autosomal recessive spondylocostal dysostosisCN043670ORPHA19615977608059
HP:0002093HP:0002093Respiratory insufficiency0HLA-DPA1 CL E G H3113900ORPHA1154938142880
HP:0002093HP:0002093Respiratory insufficiency0HLA-DPB1 CL E G H3115900ORPHA1154940142858
HP:0002093HP:0002093Respiratory insufficiency0HRAS CL E G H3265218040Costello syndrome218040C0587248OMIM15475173190020
HP:0002093HP:0002093Respiratory insufficiency0HSPG2 CL E G H33391865ORPHA118305273142461
HP:0002093HP:0002093Respiratory insufficiency0IFT140 CL E G H9742474ORPHA1128429077614620
HP:0002093HP:0002093Respiratory insufficiency0IFT172 CL E G H26160474ORPHA198930391607386
HP:0002093HP:0002093Respiratory insufficiency0IFT80 CL E G H57560474ORPHA146629262611177
HP:0002093HP:0002093Respiratory insufficiency0IFT80 CL E G H5756093271ORPHA146629262611177
HP:0002093HP:0002093Respiratory insufficiency0INPPL1 CL E G H36362746Hoyeraal syndromeORPHA12956080600829
HP:0002093HP:0002093Respiratory insufficiency0INVS CL E G H27130602088Infantile nephronophthisis602088C1865872OMIM158117870243305
HP:0002093HP:0002093Respiratory insufficiency0JAK2 CL E G H3717729Anti-factor 8 autoimmunizationORPHA12936192147796
HP:0002093HP:0002093Respiratory insufficiency0KCNJ6 CL E G H3763435628ORPHA11226267600877
HP:0002093HP:0002093Respiratory insufficiency0KLHL41 CL E G H10324171436ORPHA122016905607701
HP:0002093HP:0002093Respiratory insufficiency0LARS2 CL E G H23395617021Hydrops, lactic acidosis, and sideroblastic anemia617021C4310761OMIM126717095604544
HP:0002093HP:0002093Respiratory insufficiency0LFNG CL E G H39552311Autosomal recessive spondylocostal dysostosisCN043670ORPHA12196560602576
HP:0002093HP:0002093Respiratory insufficiency0LIAS CL E G H11019614462Pyruvate dehydrogenase lipoic acid synthetase deficiency614462C3280887OMIM133516429607031
HP:0002093HP:0002093Respiratory insufficiency0LIFR CL E G H3977601559Stuve-Wiedemann syndrome601559C0796176OMIM17216597151443
HP:0002093HP:0002093Respiratory insufficiency0LIG4 CL E G H3981235ORPHA15106601601837
HP:0002093HP:0002093Respiratory insufficiency0LMNA CL E G H4000157973ORPHA116226636150330
HP:0002093HP:0002093Respiratory insufficiency0LMOD3 CL E G H56203171436ORPHA13266649616112
HP:0002093HP:0002093Respiratory insufficiency0LTBP4 CL E G H842598896ORPHA15406717604710
HP:0002093HP:0002093Respiratory insufficiency0MARS CL E G H4141615486Interstitial lung and liver disease615486C4225400OMIM16898156560
HP:0002093HP:0002093Respiratory insufficiency0MECP2 CL E G H4204778ORPHA117786990300005
HP:0002093HP:0002093Respiratory insufficiency0MECP2 CL E G H4204300673Severe neonatal-onset encephalopathy with microcephaly300673C1968556OMIM117786990300005
HP:0002093HP:0002093Respiratory insufficiency0MESP2 CL E G H1458732311Autosomal recessive spondylocostal dysostosisCN043670ORPHA133729659605195
HP:0002093HP:0002093Respiratory insufficiency0MGME1 CL E G H92667615084Mitochondrial DNA depletion syndrome 11615084C3554462OMIM17816205615076
HP:0002093HP:0002093Respiratory insufficiency0MPL CL E G H4352729Anti-factor 8 autoimmunizationORPHA14477217159530
HP:0002093HP:0002093Respiratory insufficiency0MT-CO1 CL E G H4512550ORPHA17419516030
HP:0002093HP:0002093Respiratory insufficiency0MT-CO2 CL E G H4513550ORPHA17421516040
HP:0002093HP:0002093Respiratory insufficiency0MT-CO3 CL E G H4514550ORPHA17422516050
HP:0002093HP:0002093Respiratory insufficiency0MT-ND1 CL E G H4535550ORPHA17455516000
HP:0002093HP:0002093Respiratory insufficiency0MT-ND4 CL E G H4538550ORPHA17459516003
HP:0002093HP:0002093Respiratory insufficiency0MT-ND5 CL E G H4540550ORPHA17461516005
HP:0002093HP:0002093Respiratory insufficiency0MT-ND6 CL E G H4541550ORPHA17462516006
HP:0002093HP:0002093Respiratory insufficiency0MT-TF CL E G H4558550ORPHA17481590070
HP:0002093HP:0002093Respiratory insufficiency0MT-TH CL E G H4564550ORPHA17487590040
HP:0002093HP:0002093Respiratory insufficiency0MT-TL1 CL E G H4567550ORPHA17490590050
HP:0002093HP:0002093Respiratory insufficiency0MT-TQ CL E G H4572550ORPHA17495590030
HP:0002093HP:0002093Respiratory insufficiency0MT-TS1 CL E G H4574550ORPHA17497590080
HP:0002093HP:0002093Respiratory insufficiency0MT-TS2 CL E G H4575550ORPHA17498590085
HP:0002093HP:0002093Respiratory insufficiency0MT-TW CL E G H4578550ORPHA17501590095
HP:0002093HP:0002093Respiratory insufficiency0MTRR CL E G H45522169Epilepsy with myoclono-astatic crisisORPHA16687473602568
HP:0002093HP:0002093Respiratory insufficiency0MUSK CL E G H4593994ORPHA14967525601296
HP:0002093HP:0002093Respiratory insufficiency0MUSK CL E G H4593616325Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency616325C4225368OMIM14967525601296
HP:0002093HP:0002093Respiratory insufficiency0MYD88 CL E G H461533226ORPHA11047562602170
HP:0002093HP:0002093Respiratory insufficiency0MYH7 CL E G H46251880ORPHA136127577160760
HP:0002093HP:0002093Respiratory insufficiency0MYH7 CL E G H4625255310Congenital myopathy with fiber type disproportion255310C0546264OMIM136127577160760
HP:0002093HP:0002093Respiratory insufficiency0MYH7 CL E G H4625255160Myopathy, myosin storage, autosomal recessive255160C1850709OMIM136127577160760
HP:0002093HP:0002093Respiratory insufficiency0MYMK CL E G H389827254940Congenital nonprogressive myopathy with Moebius and Robin sequences254940C1850746OMIM17533778615345
HP:0002093HP:0002093Respiratory insufficiency0MYO1H CL E G H283446661ORPHA13013879614636
HP:0002093HP:0002093Respiratory insufficiency0MYO9A CL E G H4649618198MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC618198OMIM11727608604875
HP:0002093HP:0002093Respiratory insufficiency0MYOD1 CL E G H4654994ORPHA1357611159970
HP:0002093HP:0002093Respiratory insufficiency0NALCN CL E G H259232616266Congenital contractures of the limbs and face, hypotonia, and developmental delay616266C4225398OMIM165319082611549
HP:0002093HP:0002093Respiratory insufficiency0NDUFS1 CL E G H4719618226MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5618226OMIM13327707157655
HP:0002093HP:0002093Respiratory insufficiency0NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11047711602694
HP:0002093HP:0002093Respiratory insufficiency0NDUFS8 CL E G H4728618222MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2618222OMIM1987715602141
HP:0002093HP:0002093Respiratory insufficiency0NEB CL E G H4703171436ORPHA164447720161650
HP:0002093HP:0002093Respiratory insufficiency0NPC2 CL E G H10577607625Niemann-Pick disease type C2607625C1843366OMIM118314537601015
HP:0002093HP:0002093Respiratory insufficiency0NSUN2 CL E G H54888235ORPHA144325994610916
HP:0002093HP:0002093Respiratory insufficiency0PEX1 CL E G H5189912ORPHA112058850602136
HP:0002093HP:0002093Respiratory insufficiency0PEX10 CL E G H5192912ORPHA16548851602859
HP:0002093HP:0002093Respiratory insufficiency0PEX11B CL E G H8799912ORPHA13508853603867
HP:0002093HP:0002093Respiratory insufficiency0PEX12 CL E G H5193912ORPHA13608854601758
HP:0002093HP:0002093Respiratory insufficiency0PEX13 CL E G H5194912ORPHA13978855601789
HP:0002093HP:0002093Respiratory insufficiency0PEX14 CL E G H5195912ORPHA13748856601791
HP:0002093HP:0002093Respiratory insufficiency0PEX16 CL E G H9409912ORPHA13468857603360
HP:0002093HP:0002093Respiratory insufficiency0PEX19 CL E G H5824912ORPHA13049713600279
HP:0002093HP:0002093Respiratory insufficiency0PEX2 CL E G H5828912ORPHA13669717170993
HP:0002093HP:0002093Respiratory insufficiency0PEX26 CL E G H55670912ORPHA143122965608666
HP:0002093HP:0002093Respiratory insufficiency0PEX3 CL E G H8504912ORPHA12718858603164
HP:0002093HP:0002093Respiratory insufficiency0PEX5 CL E G H5830912ORPHA16899719600414
HP:0002093HP:0002093Respiratory insufficiency0PEX6 CL E G H5190912ORPHA110858859601498
HP:0002093HP:0002093Respiratory insufficiency0PEX7 CL E G H5191215100Rhizomelic chondrodysplasia punctata type 1215100C1859133OMIM14418860601757
HP:0002093HP:0002093Respiratory insufficiency0PHOX2B CL E G H8929661ORPHA18409143603851
HP:0002093HP:0002093Respiratory insufficiency0PIP5K1C CL E G H23396611369Lethal congenital contractural syndrome 3611369C1969655OMIM11348996606102
HP:0002093HP:0002093Respiratory insufficiency0PKHD1 CL E G H5314731ORPHA133979016606702
HP:0002093HP:0002093Respiratory insufficiency0PLAA CL E G H9373521426ORPHA13389043603873
HP:0002093HP:0002093Respiratory insufficiency0PLAA CL E G H9373617527NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES617527C4479631OMIM13389043603873
HP:0002093HP:0002093Respiratory insufficiency0PLOD1 CL E G H5351225400Ehlers-Danlos syndrome, hydroxylysine-deficient225400C0268342OMIM17949081153454
HP:0002093HP:0002093Respiratory insufficiency0PLOD2 CL E G H53522771Hydrocephalus costovertebral dysplasia Sprengel anomalyORPHA13059082601865
HP:0002093HP:0002093Respiratory insufficiency0PLPBP CL E G H11212617290Epilepsy, early-onset, vitamin b6-dependent617290C4310632OMIM1909457604436
HP:0002093HP:0002093Respiratory insufficiency0POGLUT1 CL E G H56983617232Muscular dystrophy, limb-girdle, type 2z617232C4310660OMIM111122954615618
HP:0002093HP:0002093Respiratory insufficiency0POMT2 CL E G H29954613156Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2613156C3150416OMIM176619743607439
HP:0002093HP:0002093Respiratory insufficiency0PRPS1 CL E G H56311187Cerebellar agenesisORPHA13609462311850
HP:0002093HP:0002093Respiratory insufficiency0PRTN3 CL E G H5657900ORPHA1479495177020
HP:0002093HP:0002093Respiratory insufficiency0PSAP CL E G H5660139406ORPHA15989498176801
HP:0002093HP:0002093Respiratory insufficiency0PSAP CL E G H5660611722Krabbe disease atypical due to Saposin A deficiency611722C2673266OMIM15989498176801
HP:0002093HP:0002093Respiratory insufficiency0PTPN22 CL E G H26191900ORPHA1349652600716
HP:0002093HP:0002093Respiratory insufficiency0PURA CL E G H5813616158Mental retardation, autosomal dominant 31616158C4015357OMIM13939701600473
HP:0002093HP:0002093Respiratory insufficiency0RAPSN CL E G H5913994ORPHA14339863601592
HP:0002093HP:0002093Respiratory insufficiency0RAPSN CL E G H5913616326Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency616326C4225367OMIM14339863601592
HP:0002093HP:0002093Respiratory insufficiency0REN CL E G H5972267430Renal dysplasia267430C3536714OMIM11019958179820
HP:0002093HP:0002093Respiratory insufficiency0RFT1 CL E G H91869612015Congenital disorder of glycosylation type 1N612015C2677590OMIM139930220611908
HP:0002093HP:0002093Respiratory insufficiency0RIPPLY2 CL E G H1347012311Autosomal recessive spondylocostal dysostosisCN043670ORPHA16921390609891
HP:0002093HP:0002093Respiratory insufficiency0RMRP CL E G H6023175ORPHA162510031157660
HP:0002093HP:0002093Respiratory insufficiency0RYR1 CL E G H6261169186ORPHA1506210483180901
HP:0002093HP:0002093Respiratory insufficiency0RYR1 CL E G H6261255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1506210483180901
HP:0002093HP:0002093Respiratory insufficiency0RYR1 CL E G H6261255320Minicore myopathy255320C1850674OMIM1506210483180901
HP:0002093HP:0002093Respiratory insufficiency0SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1218610680600857
HP:0002093HP:0002093Respiratory insufficiency0SELENON CL E G H5719097244ORPHA153715999606210
HP:0002093HP:0002093Respiratory insufficiency0SELENON CL E G H57190255310Congenital myopathy with fiber type disproportion255310C0546264OMIM153715999606210
HP:0002093HP:0002093Respiratory insufficiency0SF3B4 CL E G H10262245ORPHA18610771605593
HP:0002093HP:0002093Respiratory insufficiency0SLC18A3 CL E G H6572617239Myasthenic syndrome, congenital, 21, presynaptic617239C4310654OMIM121510936600336
HP:0002093HP:0002093Respiratory insufficiency0SLC25A1 CL E G H6576615182Combined d-2- and l-2-hydroxyglutaric aciduria615182C2746066OMIM150510979190315
HP:0002093HP:0002093Respiratory insufficiency0SLC25A20 CL E G H788159ORPHA11451421613698
HP:0002093HP:0002093Respiratory insufficiency0SLC25A24 CL E G H29957612289Fontaine progeroid syndrome612289C2676780OMIM18320662608744
HP:0002093HP:0002093Respiratory insufficiency0SLC25A3 CL E G H5250610773Mitochondrial phosphate carrier deficiency610773C1835845OMIM111410989600370
HP:0002093HP:0002093Respiratory insufficiency0SLC26A2 CL E G H1836628ORPHA154910994606718
HP:0002093HP:0002093Respiratory insufficiency0SLC26A2 CL E G H1836600972Achondrogenesis, type IB600972C0265274OMIM154910994606718
HP:0002093HP:0002093Respiratory insufficiency0SLC26A2 CL E G H1836256050Atelosteogenesis type 2256050C1850554OMIM154910994606718
HP:0002093HP:0002093Respiratory insufficiency0SLC52A2 CL E G H7958197229ORPHA145830224607882
HP:0002093HP:0002093Respiratory insufficiency0SLC52A2 CL E G H79581614707Brown-Vialetto-Van Laere syndrome 2614707C3553538OMIM145830224607882
HP:0002093HP:0002093Respiratory insufficiency0SLC52A3 CL E G H11327897229ORPHA139916187613350
HP:0002093HP:0002093Respiratory insufficiency0SLC52A3 CL E G H113278211530Brown-Vialetto-Van Laere syndrome 1211530CN029849OMIM139916187613350
HP:0002093HP:0002093Respiratory insufficiency0SLC7A7 CL E G H9056222700Lysinuric protein intolerance222700C0268647OMIM152811065603593
HP:0002093HP:0002093Respiratory insufficiency0SMN1 CL E G H6606253300Werdnig-Hoffmann disease253300C0043116OMIM120811117600354
HP:0002093HP:0002093Respiratory insufficiency0SNAP25 CL E G H6616616330Myasthenic syndrome, congenital, 18616330C4225364OMIM119111132600322
HP:0002093HP:0002093Respiratory insufficiency0SOX9 CL E G H6662140Atresia of small intestineORPHA128011204608160
HP:0002093HP:0002093Respiratory insufficiency0SPEG CL E G H10290169186ORPHA190716901615950
HP:0002093HP:0002093Respiratory insufficiency0SPEG CL E G H10290615959Myopathy, centronuclear, 5615959C4014814OMIM190716901615950
HP:0002093HP:0002093Respiratory insufficiency0STRA6 CL E G H64220601186Microphthalmia syndromic 9601186C1832661OMIM126230650610745
HP:0002093HP:0002093Respiratory insufficiency0SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM135511474185620
HP:0002093HP:0002093Respiratory insufficiency0SYNE2 CL E G H23224612999Emery-Dreifuss muscular dystrophy 5, autosomal dominant612999C2751805OMIM1249717084608442
HP:0002093HP:0002093Respiratory insufficiency0TET2 CL E G H54790729Anti-factor 8 autoimmunizationORPHA111525941612839
HP:0002093HP:0002093Respiratory insufficiency0TMEM231 CL E G H79583614970Joubert syndrome 20614970C3554235OMIM134137234614949
HP:0002093HP:0002093Respiratory insufficiency0TMEM70 CL E G H54968614052Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2614052C3279699OMIM125226050612418
HP:0002093HP:0002093Respiratory insufficiency0TNNT1 CL E G H7138605355Nemaline myopathy 5605355C1854380OMIM129811948191041
HP:0002093HP:0002093Respiratory insufficiency0TPM2 CL E G H7169171436ORPHA128012011190990
HP:0002093HP:0002093Respiratory insufficiency0TPM2 CL E G H7169255310Congenital myopathy with fiber type disproportion255310C0546264OMIM128012011190990
HP:0002093HP:0002093Respiratory insufficiency0TPM3 CL E G H7170255310Congenital myopathy with fiber type disproportion255310C0546264OMIM130012012191030
HP:0002093HP:0002093Respiratory insufficiency0TPM3 CL E G H7170609284Nemaline myopathy 1609284C1836448OMIM130012012191030
HP:0002093HP:0002093Respiratory insufficiency0TRIM2 CL E G H23321615490Charcot-Marie-Tooth disease, axonal, type 2R615490C3809655OMIM133415974614141
HP:0002093HP:0002093Respiratory insufficiency0TRPV4 CL E G H59341181405Scapuloperoneal spinal muscular atrophy181405C0751335OMIM189118083605427
HP:0002093HP:0002093Respiratory insufficiency0TSFM CL E G H10102610505Combined oxidative phosphorylation deficiency 3610505C1864840OMIM130212367604723
HP:0002093HP:0002093Respiratory insufficiency0TTC21B CL E G H79809474ORPHA187625660612014
HP:0002093HP:0002093Respiratory insufficiency0TTN CL E G H7273169186ORPHA12285912403188840
HP:0002093HP:0002093Respiratory insufficiency0UBA1 CL E G H7317301830Spinal muscular atrophy, X-linked 2301830C1844934OMIM153112469314370
HP:0002093HP:0002093Respiratory insufficiency0USP18 CL E G H11274617397Pseudo-torch syndrome 2617397C4479376OMIM114912616607057
HP:0002093HP:0002093Respiratory insufficiency0VRK1 CL E G H7443607596Pontocerebellar hypoplasia type 1A607596CN032785OMIM138512718602168
HP:0002093HP:0002093Respiratory insufficiency0WDR19 CL E G H57728474ORPHA174918340608151
HP:0002093HP:0002093Respiratory insufficiency0WDR34 CL E G H89891474ORPHA128296613363
HP:0002093HP:0002093Respiratory insufficiency0WDR34 CL E G H8989193271ORPHA128296613363
HP:0002093HP:0002093Respiratory insufficiency0WDR34 CL E G H89891615633Short-rib thoracic dysplasia 11 with or without polydactyly615633C3810200OMIM128296613363
HP:0002093HP:0002093Respiratory insufficiency0WDR35 CL E G H5753993271ORPHA152329250613602
HP:0002093HP:0002093Respiratory insufficiency0WDR60 CL E G H5511293271ORPHA121862615462
HP:0002093HP:0002093Respiratory insufficiency0WDR60 CL E G H55112474ORPHA121862615462
HP:0002093HP:0002093Respiratory insufficiency0ZNF148 CL E G H7707617260Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies617260C4310644OMIM16312933601897
HP:0002093HP:0004887Respiratory failure requiring assisted ventilation1ACE CL E G H1636267430Renal dysplasia267430C3536714OMIM13242707106180
HP:0002093HP:0002643Neonatal respiratory distress1ACE CL E G H1636267430Renal dysplasia267430C3536714OMIM13242707106180
HP:0002093HP:0002878Respiratory failure1ACE CL E G H1636267430Renal dysplasia267430C3536714OMIM13242707106180
HP:0002093HP:0002747Respiratory insufficiency due to muscle weakness1ACE CL E G H1636267430Renal dysplasia267430C3536714OMIM13242707106180
HP:0002093HP:0200073Respiratory insufficiency due to defective ciliary clearance1ACE CL E G H1636267430Renal dysplasia267430C3536714OMIM13242707106180
HP:0002093HP:0004878Intercostal muscle weakness1ACE CL E G H1636267430Renal dysplasia267430C3536714OMIM13242707106180
HP:0002093HP:0005943Respiratory arrest1ACE CL E G H1636267430Renal dysplasia267430C3536714OMIM13242707106180
HP:0002093HP:0004878Intercostal muscle weakness1ACOX1 CL E G H512971ORPHA1517119609751
HP:0002093HP:0200073Respiratory insufficiency due to defective ciliary clearance1ACOX1 CL E G H512971ORPHA1517119609751
HP:0002093HP:0005943Respiratory arrest1ACOX1 CL E G H512971ORPHA1517119609751
HP:0002093HP:0004887Respiratory failure requiring assisted ventilation1ACOX1 CL E G H512971ORPHA1517119609751
HP:0002093HP:0002878Respiratory failure1ACOX1 CL E G H512971ORPHA1517119609751
HP:0002093HP:0002747Respiratory insufficiency due to muscle weakness1ACOX1 CL E G H512971ORPHA1517119609751
HP:0002093HP:0002643Neonatal respiratory distress1ACOX1 CL E G H512971ORPHA1517119609751
HP:0002093HP:0002878Respiratory failure1ACTA1 CL E G H5897244ORPHA1392129102610
HP:0002093HP:0005943Respiratory arrest1ACTA1 CL E G H58171436ORPHA1392129102610
HP:0002093HP:0002747Respiratory insufficiency due to muscle weakness1ACTA1 CL E G H5897244ORPHA1392129102610
HP:0002093HP:0002643Neonatal respiratory distress1ACTA1 CL E G H5897244ORPHA1392129102610
HP:0002093HP:0004887Respiratory failure requiring assisted ventilation1ACTA1 CL E G H58171436ORPHA1392129102610
HP:0002093HP:0004878Intercostal muscle weakness1ACTA1 CL E G H5897244ORPHA1392129102610
HP:0002093HP:0200073Respiratory insufficiency due to defective ciliary clearance1ACTA1 CL E G H5897244ORPHA1392129102610
HP:0002093HP:0002643Neonatal respiratory distress1ACTA1 CL E G H58171436ORPHA1392129102610
HP:0002093HP:0002878Respiratory failure1ACTA1 CL E G H58171436ORPHA1392129102610
HP:0002093HP:0002747Respiratory insufficiency due to muscle weakness1ACTA1 CL E G H58171436ORPHA1392129102610
HP:0002093HP:0005943Respiratory arrest1ACTA1 CL E G H5897244ORPHA1392129102610
HP:0002093HP:0200073Respiratory insufficiency due to defective ciliary clearance1ACTA1 CL E G H58171436ORPHA1392129102610
HP:0002093HP:0004887Respiratory failure requiring assisted ventilation1ACTA1 CL E G H5897244ORPHA1392129102610
HP:0002093HP:0004878Intercostal muscle weakness1ACTA1 CL E G H58171436ORPHA1392129102610
HP:0002093HP:0005943Respiratory arrest1ACTA1 CL E G H58255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1392129102610
HP:0002093HP:0004887Respiratory failure requiring assisted ventilation1ACTA1 CL E G H58255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1392129102610
HP:0002093HP:0002747Respiratory insufficiency due to muscle weakness1ACTA1 CL E G H58255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1392129102610
HP:0002093HP:0002643Neonatal respiratory distress1ACTA1 CL E G H58255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1392129102610
HP:0002093HP:0002878Respiratory failure1ACTA1 CL E G H58255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1392129102610
HP:0002093HP:0004878Intercostal muscle weakness1ACTA1 CL E G H58255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1392129102610
HP:0002093HP:0200073Respiratory insufficiency due to defective ciliary clearance1ACTA1 CL E G H58255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1392129102610
HP:0002093HP:0004887Respiratory failure requiring assisted ventilation1ACVR1 CL E G H90337ORPHA1169171102576
HP:0002093HP:0002747Respiratory insufficiency due to muscle weakness1ACVR1 CL E G H90337ORPHA1169171102576
HP:0002093HP:0002643Neonatal respiratory distress1ACVR1 CL E G H90337ORPHA1169171102576
HP:0002093HP:0002878Respiratory failure1ACVR1 CL E G H90337ORPHA1169171102576
HP:0002093HP:0004878Intercostal muscle weakness1ACVR1 CL E G H90337ORPHA1169171102576
HP:0002093HP:0200073Respiratory insufficiency due to defective ciliary clearance1ACVR1 CL E G H90337ORPHA1169171102576
HP:0002093HP:0005943Respiratory arrest1ACVR1 CL E G H90337ORPHA1169171102576
HP:0002093HP:0005943Respiratory arrest1AGK CL E G H55750212350Cataract and cardiomyopathy212350C1859317OMIM124221869610345
HP:0002093HP:0004887Respiratory failure requiring assisted ventilation1AGK CL E G H55750212350Cataract and cardiomyopathy212350C1859317OMIM124221869610345
HP:0002093HP:0002878Respiratory failure1AGK CL E G H55750212350Cataract and cardiomyopathy212350C1859317OMIM124221869610345
HP:0002093HP:0002747Respiratory insufficiency due to muscle weakness1AGK CL E G H55750212350Cataract and cardiomyopathy212350C1859317OMIM124221869610345
HP:0002093HP:0002643Neonatal respiratory distress1AGK CL E G H55750212350Cataract and cardiomyopathy212350C1859317OMIM124221869610345
HP:0002093HP:0004878Intercostal muscle weakness1AGK CL E G H55750212350Cataract and cardiomyopathy212350C1859317OMIM124221869610345
HP:0002093HP:0200073Respiratory insufficiency due to defective ciliary clearance1AGK CL E G H55750212350Cataract and cardiomyopathy212350C1859317OMIM124221869610345
HP:0002093HP:0004878Intercostal muscle weakness1AGT CL E G H183267430Renal dysplasia267430C3536714OMIM1161333106150
HP:0002093HP:0200073Respiratory insufficiency due to defective ciliary clearance1AGT CL E G H183267430Renal dysplasia267430C3536714OMIM1161333106150
HP:0002093HP:0005943Respiratory arrest1AGT CL E G H183267430Renal dysplasia267430C3536714OMIM1161333106150
HP:0002093HP:0004887Respiratory failure requiring assisted ventilation1AGT CL E G H183267430Renal dysplasia267430C3536714OMIM1161333106150
HP:0002093HP:0002878Respiratory failure1AGT CL E G H183267430Renal dysplasia267430C3536714OMIM1161333106150
HP:0002093HP:0002747Respiratory insufficiency due to muscle weakness1AGT CL E G H183267430Renal dysplasia267430C3536714OMIM1161333106150
HP:0002093HP:0002643Neonatal respiratory distress1AGT CL E G H183267430Renal dysplasia267430C3536714OMIM1161333106150
HP:0002093HP:0004887Respiratory failure requiring assisted ventilation1AGTR1 CL E G H185267430Renal dysplasia267430C3536714OMIM1107336106165
HP:0002093HP:0002747Respiratory insufficiency due to muscle weakness1AGTR1 CL E G H185267430Renal dysplasia267430C3536714OMIM1107336106165
HP:0002093HP:0002643Neonatal respiratory distress1AGTR1 CL E G H185267430Renal dysplasia267430C3536714OMIM1107336106165
HP:0002093HP:0002878Respiratory failure1AGTR1 CL E G H185267430Renal dysplasia267430C3536714OMIM1107336106165
HP:0002093HP:0004878Intercostal muscle weakness1AGTR1 CL E G H185267430Renal dysplasia267430C3536714OMIM1107336106165
HP:0002093HP:0200073Respiratory insufficiency due to defective ciliary clearance1AGTR1 CL E G H185267430Renal dysplasia267430C3536714OMIM1107336106165
HP:0002093HP:0005943Respiratory arrest1AGTR1 CL E G H185267430Renal dysplasia267430C3536714OMIM1107336106165
HP:0002093HP:0002747Respiratory insufficiency due to muscle weakness1AIFM1 CL E G H9131238329ORPHA14878768300169
HP:0002093HP:0002643Neonatal respiratory distress1AIFM1 CL E G H9131238329ORPHA14878768300169
HP:0002093HP:0002878Respiratory failure1AIFM1 CL E G H9131238329ORPHA14878768300169
HP:0002093HP:0004878Intercostal muscle weakness1AIFM1 CL E G H9131238329ORPHA14878768300169
HP:0002093HP:0200073Respiratory insufficiency due to defective ciliary clearance1AIFM1 CL E G H9131238329ORPHA14878768300169
HP:0002093HP:0005943Respiratory arrest1AIFM1 CL E G H9131238329ORPHA14878768300169
HP:0002093HP:0004887Respiratory failure requiring assisted ventilation1AIFM1 CL E G H9131238329ORPHA14878768300169
HP:0002093HP:0002643Neonatal respiratory distress1ALMS1 CL E G H784064ORPHA14321428606844
HP:0002093HP:0002878Respiratory failure1ALMS1 CL E G H784064ORPHA14321428606844
HP:0002093HP:0002747Respiratory insufficiency due to muscle weakness1ALMS1 CL E G H784064ORPHA14321428606844
HP:0002093HP:0200073Respiratory insufficiency due to defective ciliary clearance1ALMS1 CL E G H784064ORPHA14321428606844
HP:0002093HP:0004878Intercostal muscle weakness1ALMS1 CL E G H784064ORPHA14321428606844
HP:0002093HP:0005943Respiratory arrest1ALMS1 CL E G H784064ORPHA14321428606844
HP:0002093HP:0004887Respiratory failure requiring assisted ventilation1ALMS1 CL E G H784064ORPHA14321428606844
HP:0002093HP:0004878Intercostal muscle weakness1ASAH1 CL E G H427333ORPHA1712735613468
HP:0002093HP:0200073Respiratory insufficiency due to defective ciliary clearance1ASAH1 CL E G H427333ORPHA1712735613468
HP:0002093HP:0005943Respiratory arrest1ASAH1 CL E G H427333ORPHA1712735613468
HP:0002093HP:0004887Respiratory failure requiring assisted ventilation1ASAH1 CL E G H427333ORPHA1712735613468
HP:0002093HP:0002878Respiratory failure1ASAH1 CL E G H427333ORPHA1712735613468
HP:0002093HP:0002747Respiratory insufficiency due to muscle weakness1ASAH1 CL E G H427333ORPHA1712735613468
HP:0002093HP:0002643Neonatal respiratory distress1ASAH1 CL E G H427333ORPHA1712735613468
HP:0002093HP:0005943Respiratory arrest1ASAH1 CL E G H427228000Farber disease228000C0268255OMIM1712735613468
HP:0002093HP:0004887Respiratory failure requiring assisted ventilation1ASAH1 CL E G H427228000Farber disease228000C0268255OMIM1712735613468
HP:0002093HP:0002747Respiratory insufficiency due to muscle weakness1ASAH1 CL E G H427228000Farber disease228000C0268255OMIM1712735613468
HP:0002093HP:0002643Neonatal respiratory distress1ASAH1 CL E G H427228000Farber disease228000C0268255OMIM1712735613468
HP:0002093HP:0002878Respiratory failure1ASAH1 CL E G H427228000Farber disease228000C0268255OMIM1712735613468
HP:0002093HP:0004878Intercostal muscle weakness1ASAH1 CL E G H427228000Farber disease228000C0268255OMIM1712735613468
HP:0002093HP:0200073Respiratory insufficiency due to defective ciliary clearance1ASAH1 CL E G H427228000Farber disease228000C0268255OMIM1712735613468
HP:0002093HP:0005943Respiratory arrest1ASNS CL E G H440615574Asparagine synthetase deficiency615574C3809971OMIM1432753108370
HP:0002093HP:0004887Respiratory failure requiring assisted ventilation1ASNS CL E G H440615574Asparagine synthetase deficiency615574C3809971OMIM1432753108370
HP:0002093HP:0002747Respiratory insufficiency due to muscle weakness1ASNS CL E G H440615574Asparagine synthetase deficiency615574C3809971OMIM1432753108370
HP:0002093HP:0002643Neonatal respiratory distress1ASNS CL E G H440615574Asparagine synthetase deficiency615574C3809971OMIM1432753108370
HP:0002093HP:0002878Respiratory failure1ASNS CL E G H440615574Asparagine synthetase deficiency615574C3809971OMIM1432753108370
HP:0002093HP:0004878Intercostal muscle weakness1ASNS CL E G H440615574Asparagine synthetase deficiency615574C3809971OMIM1432753108370
HP:0002093HP:0200073Respiratory insufficiency due to defective ciliary clearance1ASNS CL E G H440615574Asparagine synthetase deficiency615574C3809971OMIM1432753108370
HP:0002093HP:0005943Respiratory arrest1BAG3 CL E G H9531612954Myofibrillar myopathy, BAG3-related612954C2751831OMIM1856939603883
HP:0002093HP:0004887Respiratory failure requiring assisted ventilation1BAG3 CL E G H9531612954Myofibrillar myopathy, BAG3-related612954C2751831OMIM1856939603883
HP:0002093HP:0002747Respiratory insufficiency due to muscle weakness1BAG3 CL E G H9531612954Myofibrillar myopathy, BAG3-related612954C2751831OMIM1856939603883
HP:0002093HP:0002643Neonatal respiratory distress1BAG3 CL E G H9531612954Myofibrillar myopathy, BAG3-related612954C2751831OMIM1856939603883
HP:0002093HP:0002878Respiratory failure1BAG3 CL E G H9531612954Myofibrillar myopathy, BAG3-related612954C2751831OMIM1856939603883
HP:0002093HP:0004878Intercostal muscle weakness1BAG3 CL E G H9531612954Myofibrillar myopathy, BAG3-related612954C2751831OMIM1856939603883
HP:0002093HP:0200073Respiratory insufficiency due to defective ciliary clearance1BAG3 CL E G H9531612954Myofibrillar myopathy, BAG3-related612954C2751831OMIM1856939603883
HP:0002093HP:0002747Respiratory insufficiency due to muscle weakness1BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM13341020603647
HP:0002093HP:0002643Neonatal respiratory distress1BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM13341020603647
HP:0002093HP:0002878Respiratory failure1BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM13341020603647
HP:0002093HP:0004878Intercostal muscle weakness1BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM13341020603647
HP:0002093HP:0200073Respiratory insufficiency due to defective ciliary clearance1BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM13341020603647
HP:0002093HP:0005943Respiratory arrest1BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM13341020603647
HP:0002093HP:0004887Respiratory failure requiring assisted ventilation1BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM13341020603647
HP:0002093HP:0005943Respiratory arrest1BDNF CL E G H627661ORPHA1571033113505
HP:0002093HP:0004887Respiratory failure requiring assisted ventilation1BDNF CL E G H627661ORPHA1571033113505
HP:0002093HP:0002747Respiratory insufficiency due to muscle weakness1BDNF CL E G H627661ORPHA1571033113505
HP:0002093HP:0002643Neonatal respiratory distress1BDNF CL E G H627661ORPHA1571033113505
HP:0002093HP:0002878Respiratory failure1BDNF CL E G H627661ORPHA1571033113505
HP:0002093HP:0200073Respiratory insufficiency due to defective ciliary clearance1BDNF CL E G H627661ORPHA1571033113505
HP:0002093HP:0004878Intercostal muscle weakness1BDNF CL E G H627661ORPHA1571033113505
HP:0002093HP:0005943Respiratory arrest1BIN1 CL E G H274169186ORPHA15521052601248
HP:0002093HP:0004887Respiratory failure requiring assisted ventilation1BIN1 CL E G H274169186ORPHA15521052601248
HP:0002093HP:0002643Neonatal respiratory distress1BIN1 CL E G H274169186ORPHA15521052601248
HP:0002093HP:0002878Respiratory failure1BIN1 CL E G H274169186ORPHA15521052601248
HP:0002093HP:0002747Respiratory insufficiency due to muscle weakness1BIN1 CL E G H274169186ORPHA15521052601248
HP:0002093HP:0200073Respiratory insufficiency due to defective ciliary clearance1BIN1 CL E G H274169186ORPHA15521052601248
HP:0002093HP:0004878Intercostal muscle weakness1BIN1 CL E G H274169186ORPHA15521052601248
HP:0002093HP:0004887Respiratory failure requiring assisted ventilation1BMPER CL E G H168667608022Diaphanospondylodysostosis608022C1842691OMIM124424154608699
HP:0002093HP:0002747Respiratory insufficiency due to muscle weakness1BMPER CL E G H168667608022Diaphanospondylodysostosis608022C1842691OMIM124424154608699
HP:0002093HP:0002643Neonatal respiratory distress1BMPER CL E G H168667608022Diaphanospondylodysostosis608022C1842691OMIM124424154608699
HP:0002093HP:0002878Respiratory failure1BMPER CL E G H168667608022Diaphanospondylodysostosis608022C1842691OMIM124424154608699
HP:0002093HP:0004878Intercostal muscle weakness1BMPER CL E G H168667608022Diaphanospondylodysostosis608022C1842691OMIM124424154608699
HP:0002093HP:0200073Respiratory insufficiency due to defective ciliary clearance1BMPER CL E G H168667608022Diaphanospondylodysostosis608022C1842691OMIM124424154608699
HP:0002093HP:0005943Respiratory arrest1BMPER CL E G H168667608022Diaphanospondylodysostosis608022C1842691OMIM124424154608699
HP:0002093HP:0004887Respiratory failure requiring assisted ventilation1CEP120 CL E G H153241474ORPHA130526690613446
HP:0002093HP:0002643Neonatal respiratory distress1CEP120 CL E G H153241474ORPHA130526690613446
HP:0002093HP:0002878Respiratory failure1CEP120 CL E G H153241474ORPHA130526690613446
HP:0002093HP:0002747Respiratory insufficiency due to muscle weakness1CEP120 CL E G H153241474ORPHA130526690613446
HP:0002093HP:0200073Respiratory insufficiency due to defective ciliary clearance1CEP120 CL E G H153241474ORPHA130526690613446
HP:0002093HP:0004878Intercostal muscle weakness1CEP120 CL E G H153241474ORPHA130526690613446
HP:0002093HP:0005943Respiratory arrest1CEP120 CL E G H153241474ORPHA130526690613446
HP:0002093HP:0002643Neonatal respiratory distress1CEP120 CL E G H153241616300Short-rib thoracic dysplasia 13 with or without polydactyly616300C4225378OMIM130526690613446
HP:0002093HP:0002878Respiratory failure1CEP120 CL E G H153241616300Short-rib thoracic dysplasia 13 with or without polydactyly616300C4225378OMIM130526690613446
HP:0002093HP:0002747Respiratory insufficiency due to muscle weakness1CEP120 CL E G H153241616300Short-rib thoracic dysplasia 13 with or without polydactyly616300C4225378OMIM130526690613446
HP:0002093HP:0004878Intercostal muscle weakness1CEP120 CL E G H153241616300Short-rib thoracic dysplasia 13 with or without polydactyly616300C4225378OMIM130526690613446
HP:0002093HP:0200073Respiratory insufficiency due to defective ciliary clearance1CEP120 CL E G H153241616300Short-rib thoracic dysplasia 13 with or without polydactyly616300C4225378OMIM130526690613446
HP:0002093HP:0005943Respiratory arrest1CEP120 CL E G H153241616300Short-rib thoracic dysplasia 13 with or without polydactyly616300C4225378OMIM130526690613446
HP:0002093HP:0004887Respiratory failure requiring assisted ventilation1CEP120 CL E G H153241616300Short-rib thoracic dysplasia 13 with or without polydactyly616300C4225378OMIM130526690613446
HP:0002093HP:0002878Respiratory failure1CFL2 CL E G H1073171436ORPHA11471875601443
HP:0002093HP:0002747Respiratory insufficiency due to muscle weakness1CFL2 CL E G H1073171436ORPHA11471875601443
HP:0002093HP:0002643Neonatal respiratory distress1CFL2 CL E G H1073171436ORPHA11471875601443
HP:0002093HP:0004878Intercostal muscle weakness1CFL2 CL E G H1073171436ORPHA11471875601443
HP:0002093HP:0200073Respiratory insufficiency due to defective ciliary clearance1CFL2 CL E G H1073171436ORPHA11471875601443
HP:0002093HP:0005943Respiratory arrest1CFL2 CL E G H1073171436ORPHA11471875601443
HP:0002093HP:0004887Respiratory failure requiring assisted ventilation1CFL2 CL E G H1073171436ORPHA11471875601443
HP:0002093HP:0005943Respiratory arrest1CHRNB1 CL E G H1140616314Myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency616314C4225373OMIM13571961100710
HP:0002093HP:0004887Respiratory failure requiring assisted ventilation1CHRNB1 CL E G H1140616314Myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency616314C4225373OMIM13571961100710
HP:0002093HP:0002878Respiratory failure1CHRNB1 CL E G H1140616314Myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency616314C4225373OMIM13571961100710
HP:0002093HP:0002747Respiratory insufficiency due to muscle weakness1CHRNB1 CL E G H1140616314Myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency616314C4225373OMIM13571961100710
HP:0002093HP:0002643Neonatal respiratory distress1CHRNB1 CL E G H1140616314Myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency616314C4225373OMIM13571961100710
HP:0002093HP:0004878Intercostal muscle weakness1CHRNB1 CL E G H1140616314Myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency616314C4225373OMIM13571961100710
HP:0002093HP:0200073Respiratory insufficiency due to defective ciliary clearance1CHRNB1 CL E G H1140616314Myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency616314C4225373OMIM13571961100710
HP:0002093HP:0002747Respiratory insufficiency due to muscle weakness1CHRND CL E G H1144616321Myasthenic syndrome, congenital, 3a, slow-channel616321C4225372OMIM14081965100720
HP:0002093HP:0002643Neonatal respiratory distress1CHRND CL E G H1144616321Myasthenic syndrome, congenital, 3a, slow-channel616321C4225372OMIM14081965100720
HP:0002093HP:0002878Respiratory failure1CHRND CL E G H1144616321Myasthenic syndrome, congenital, 3a, slow-channel616321C4225372OMIM14081965100720
HP:0002093HP:0004878Intercostal muscle weakness1CHRND CL E G H1144616321Myasthenic syndrome, congenital, 3a, slow-channel616321C4225372OMIM14081965100720
HP:0002093HP:0200073Respiratory insufficiency due to defective ciliary clearance1CHRND CL E G H1144616321Myasthenic syndrome, congenital, 3a, slow-channel616321C4225372OMIM14081965100720
HP:0002093HP:0005943Respiratory arrest1CHRND CL E G H1144616321Myasthenic syndrome, congenital, 3a, slow-channel616321C4225372OMIM14081965100720
HP:0002093HP:0004887Respiratory failure requiring assisted ventilation1CHRND CL E G H1144616321Myasthenic syndrome, congenital, 3a, slow-channel616321C4225372OMIM14081965100720
HP:0002093HP:0005943Respiratory arrest1CHRND CL E G H1144616322Myasthenic syndrome, congenital, 3b, fast-channel616322C4225371OMIM14081965100720
HP:0002093HP:0004887Respiratory failure requiring assisted ventilation1CHRND CL E G H1144616322Myasthenic syndrome, congenital, 3b, fast-channel616322C4225371OMIM14081965100720
HP:0002093HP:0002747Respiratory insufficiency due to muscle weakness1CHRND CL E G H1144616322Myasthenic syndrome, congenital, 3b, fast-channel616322C4225371OMIM14081965100720
HP:0002093HP:0002643Neonatal respiratory distress1CHRND CL E G H1144616322Myasthenic syndrome, congenital, 3b, fast-channel616322C4225371OMIM14081965100720
HP:0002093HP:0002878Respiratory failure1CHRND CL E G H1144616322Myasthenic syndrome, congenital, 3b, fast-channel616322C4225371OMIM14081965100720
HP:0002093HP:0004878Intercostal muscle weakness1CHRND CL E G H1144616322Myasthenic syndrome, congenital, 3b, fast-channel616322C4225371OMIM14081965100720
HP:0002093HP:0200073Respiratory insufficiency due to defective ciliary clearance1CHRND CL E G H1144616322Myasthenic syndrome, congenital, 3b, fast-channel616322C4225371OMIM14081965100720
HP:0002093HP:0002643Neonatal respiratory distress1CHRND CL E G H1144616323Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency616323C4225370OMIM14081965100720
HP:0002093HP:0002878Respiratory failure1CHRND CL E G H1144616323Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency616323C4225370OMIM14081965100720
HP:0002093HP:0002747Respiratory insufficiency due to muscle weakness1CHRND CL E G H1144616323Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency616323C4225370OMIM14081965100720
HP:0002093HP:0004878Intercostal muscle weakness1CHRND CL E G H1144616323Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency616323C4225370OMIM14081965100720
HP:0002093HP:0200073Respiratory insufficiency due to defective ciliary clearance1CHRND CL E G H1144616323Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency616323C4225370OMIM14081965100720
HP:0002093HP:0005943Respiratory arrest1CHRND CL E G H1144616323Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency616323C4225370OMIM14081965100720
HP:0002093HP:0004887Respiratory failure requiring assisted ventilation1CHRND CL E G H1144616323Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency616323C4225370OMIM14081965100720
HP:0002093HP:0005943Respiratory arrest1CHRNE CL E G H1145616324Myasthenic syndrome, congenital, 4b, fast-channel616324C4225369OMIM17951966100725
HP:0002093HP:0004887Respiratory failure requiring assisted ventilation1CHRNE CL E G H1145616324Myasthenic syndrome, congenital, 4b, fast-channel616324C4225369OMIM17951966100725
HP:0002093HP:0002747Respiratory insufficiency due to muscle weakness1CHRNE CL E G H1145616324Myasthenic syndrome, congenital, 4b, fast-channel616324C4225369OMIM17951966100725
HP:0002093HP:0002878Respiratory failure1CHRNE CL E G H1145616324Myasthenic syndrome, congenital, 4b, fast-channel616324C4225369OMIM17951966100725
HP:0002093HP:0002643Neonatal respiratory distress1CHRNE CL E G H1145616324Myasthenic syndrome, congenital, 4b, fast-channel616324C4225369OMIM17951966100725
HP:0002093HP:0004878Intercostal muscle weakness1CHRNE CL E G H1145616324Myasthenic syndrome, congenital, 4b, fast-channel616324C4225369OMIM17951966100725
HP:0002093HP:0200073Respiratory insufficiency due to defective ciliary clearance1CHRNE CL E G H1145616324Myasthenic syndrome, congenital, 4b, fast-channel616324C4225369OMIM17951966100725
HP:0002093HP:0004878Intercostal muscle weakness1CLCF1 CL E G H235291545Corsello Opitz syndromeORPHA13317412607672
HP:0002093HP:0200073Respiratory insufficiency due to defective ciliary clearance1CLCF1 CL E G H235291545Corsello Opitz syndromeORPHA13317412607672
HP:0002093HP:0005943Respiratory arrest1CLCF1 CL E G H235291545Corsello Opitz syndromeORPHA13317412607672
HP:0002093HP:0004887Respiratory failure requiring assisted ventilation1CLCF1 CL E G H235291545Corsello Opitz syndromeORPHA13317412607672
HP:0002093HP:0002747Respiratory insufficiency due to muscle weakness1CLCF1 CL E G H235291545Corsello Opitz syndromeORPHA13317412607672
HP:0002093HP:0002643Neonatal respiratory distress1CLCF1 CL E G H235291545Corsello Opitz syndromeORPHA13317412607672
HP:0002093HP:0002878Respiratory failure1CLCF1 CL E G H235291545Corsello Opitz syndromeORPHA13317412607672
HP:0002093HP:0002747Respiratory insufficiency due to muscle weakness1CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM12678011602346
HP:0002093HP:0002643Neonatal respiratory distress1CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM12678011602346
HP:0002093HP:0002878Respiratory failure1CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM12678011602346
HP:0002093HP:0004878Intercostal muscle weakness1CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM12678011602346
HP:0002093HP:0200073Respiratory insufficiency due to defective ciliary clearance1CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM12678011602346
HP:0002093HP:0005943Respiratory arrest1CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM12678011602346
HP:0002093HP:0004887Respiratory failure requiring assisted ventilation1CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM12678011602346
HP:0002093HP:0004887Respiratory failure requiring assisted ventilation1COL11A1 CL E G H13012021ORPHA116712186120280
HP:0002093HP:0002643Neonatal respiratory distress1COL11A1 CL E G H13012021ORPHA116712186120280
HP:0002093HP:0002878Respiratory failure1COL11A1 CL E G H13012021ORPHA116712186120280
HP:0002093HP:0002747Respiratory insufficiency due to muscle weakness1COL11A1 CL E G H13012021ORPHA116712186120280
HP:0002093HP:0200073Respiratory insufficiency due to defective ciliary clearance1COL11A1 CL E G H13012021ORPHA116712186120280
HP:0002093HP:0004878Intercostal muscle weakness1COL11A1 CL E G H13012021ORPHA116712186120280
HP:0002093HP:0005943Respiratory arrest1COL11A1 CL E G H13012021ORPHA116712186120280
HP:0002093HP:0004878Intercostal muscle weakness1COL11A2 CL E G H13022021ORPHA112402187120290
HP:0002093HP:0200073Respiratory insufficiency due to defective ciliary clearance1COL11A2 CL E G H13022021ORPHA112402187120290
HP:0002093HP:0005943Respiratory arrest1COL11A2 CL E G H13022021ORPHA112402187120290
HP:0002093HP:0004887Respiratory failure requiring assisted ventilation1COL11A2 CL E G H13022021ORPHA112402187120290
HP:0002093HP:0002878Respiratory failure1COL11A2 CL E G H13022021ORPHA112402187120290
HP:0002093HP:0002747Respiratory insufficiency due to muscle weakness1COL11A2 CL E G H13022021ORPHA112402187120290
HP:0002093HP:0002643Neonatal respiratory distress1COL11A2 CL E G H13022021ORPHA112402187120290
HP:0002093HP:0005943Respiratory arrest1COL12A1 CL E G H1303616470Ullrich congenital muscular dystrophy 2616470C4225314OMIM119442188120320
HP:0002093HP:0004887Respiratory failure requiring assisted ventilation1COL12A1 CL E G H1303616470Ullrich congenital muscular dystrophy 2616470C4225314OMIM119442188120320
HP:0002093HP:0002878Respiratory failure1COL12A1 CL E G H1303616470Ullrich congenital muscular dystrophy 2616470C4225314OMIM119442188120320
HP:0002093HP:0002747Respiratory insufficiency due to muscle weakness1COL12A1 CL E G H1303616470Ullrich congenital muscular dystrophy 2616470C4225314OMIM119442188120320
HP:0002093HP:0002643Neonatal respiratory distress1COL12A1 CL E G H1303616470Ullrich congenital muscular dystrophy 2616470C4225314OMIM119442188120320
HP:0002093HP:0004878Intercostal muscle weakness1COL12A1 CL E G H1303616470Ullrich congenital muscular dystrophy 2616470C4225314OMIM119442188120320
HP:0002093HP:0200073Respiratory insufficiency due to defective ciliary clearance1COL12A1 CL E G H1303616470Ullrich congenital muscular dystrophy 2616470C4225314OMIM119442188120320
HP:0002093HP:0005943Respiratory arrest1COL13A1 CL E G H1305616720Myasthenic syndrome, congenital, 19616720C4225235OMIM13972190120350
HP:0002093HP:0004887Respiratory failure requiring assisted ventilation1COL13A1 CL E G H1305616720Myasthenic syndrome, congenital, 19616720C4225235OMIM13972190120350
HP:0002093HP:0002747Respiratory insufficiency due to muscle weakness1COL13A1 CL E G H1305616720Myasthenic syndrome, congenital, 19616720C4225235OMIM13972190120350
HP:0002093HP:0002643Neonatal respiratory distress1COL13A1 CL E G H1305616720Myasthenic syndrome, congenital, 19616720C4225235OMIM13972190120350
HP:0002093HP:0002878Respiratory failure1COL13A1 CL E G H1305616720Myasthenic syndrome, congenital, 19616720C4225235OMIM13972190120350
HP:0002093HP:0004878Intercostal muscle weakness1COL13A1 CL E G H1305616720Myasthenic syndrome, congenital, 19616720C4225235OMIM13972190120350
HP:0002093HP:0200073Respiratory insufficiency due to defective ciliary clearance1COL13A1 CL E G H1305616720Myasthenic syndrome, congenital, 19616720C4225235OMIM13972190120350
HP:0002093HP:0002747Respiratory insufficiency due to muscle weakness1COL1A1 CL E G H1277166210Osteogenesis imperfecta, recessive perinatal lethal166210C0268360OMIM120162197120150
HP:0002093HP:0002643Neonatal respiratory distress1COL1A1 CL E G H1277166210Osteogenesis imperfecta, recessive perinatal lethal166210C0268360OMIM120162197120150
HP:0002093HP:0002878Respiratory failure1COL1A1 CL E G H1277166210Osteogenesis imperfecta, recessive perinatal lethal166210C0268360OMIM120162197120150
HP:0002093HP:0004878Intercostal muscle weakness1COL1A1 CL E G H1277166210Osteogenesis imperfecta, recessive perinatal lethal166210C0268360OMIM120162197120150
HP:0002093HP:0200073Respiratory insufficiency due to defective ciliary clearance1COL1A1 CL E G H1277166210Osteogenesis imperfecta, recessive perinatal lethal166210C0268360OMIM120162197120150
HP:0002093HP:0005943Respiratory arrest1COL1A1 CL E G H1277166210Osteogenesis imperfecta, recessive perinatal lethal166210C0268360OMIM120162197120150
HP:0002093HP:0004887Respiratory failure requiring assisted ventilation1COL1A1 CL E G H1277166210Osteogenesis imperfecta, recessive perinatal lethal166210C0268360OMIM120162197120150
HP:0002093HP:0005943Respiratory arrest1COL1A2 CL E G H1278166210Osteogenesis imperfecta, recessive perinatal lethal166210C0268360OMIM114582198120160
HP:0002093HP:0004887Respiratory failure requiring assisted ventilation1COL1A2 CL E G H1278166210Osteogenesis imperfecta, recessive perinatal lethal166210C0268360OMIM114582198120160
HP:0002093HP:0002747Respiratory insufficiency due to muscle weakness1COL1A2 CL E G H1278166210Osteogenesis imperfecta, recessive perinatal lethal166210C0268360OMIM114582198120160
HP:0002093HP:0002643Neonatal respiratory distress1COL1A2 CL E G H1278166210Osteogenesis imperfecta, recessive perinatal lethal166210C0268360OMIM114582198120160
HP:0002093HP:0002878Respiratory failure1COL1A2 CL E G H1278166210Osteogenesis imperfecta, recessive perinatal lethal166210C0268360OMIM114582198120160
HP:0002093HP:0004878Intercostal muscle weakness1COL1A2 CL E G H1278166210Osteogenesis imperfecta, recessive perinatal lethal166210C0268360OMIM114582198120160
HP:0002093HP:0200073Respiratory insufficiency due to defective ciliary clearance1COL1A2 CL E G H1278166210Osteogenesis imperfecta, recessive perinatal lethal166210C0268360OMIM114582198120160
HP:0002093HP:0004887Respiratory failure requiring assisted ventilation1COL3A1 CL E G H1281286Imaizumi Kuroki syndromeORPHA122742201120180
HP:0002093HP:0002747Respiratory insufficiency due to muscle weakness1COL3A1 CL E G H1281286Imaizumi Kuroki syndromeORPHA122742201120180
HP:0002093HP:0002643Neonatal respiratory distress1COL3A1 CL E G H1281286Imaizumi Kuroki syndromeORPHA122742201120180
HP:0002093HP:0002878Respiratory failure1COL3A1 CL E G H1281286Imaizumi Kuroki syndromeORPHA122742201120180
HP:0002093HP:0004878Intercostal muscle weakness1COL3A1 CL E G H1281286Imaizumi Kuroki syndromeORPHA122742201120180
HP:0002093HP:0200073Respiratory insufficiency due to defective ciliary clearance1COL3A1 CL E G H1281286Imaizumi Kuroki syndromeORPHA122742201120180
HP:0002093HP:0005943Respiratory arrest1COL3A1 CL E G H1281286Imaizumi Kuroki syndromeORPHA122742201120180
HP:0002093HP:0004878Intercostal muscle weakness1COL5A1 CL E G H1289286Imaizumi Kuroki syndromeORPHA125312209120215
HP:0002093HP:0200073Respiratory insufficiency due to defective ciliary clearance1COL5A1 CL E G H1289286Imaizumi Kuroki syndromeORPHA125312209120215
HP:0002093HP:0005943Respiratory arrest1COL5A1 CL E G H1289286Imaizumi Kuroki syndromeORPHA125312209120215
HP:0002093HP:0004887Respiratory failure requiring assisted ventilation1COL5A1 CL E G H1289286Imaizumi Kuroki syndromeORPHA125312209120215
HP:0002093HP:0002747Respiratory insufficiency due to muscle weakness1COL5A1 CL E G H1289286Imaizumi Kuroki syndromeORPHA125312209120215
HP:0002093HP:0002643Neonatal respiratory distress1COL5A1 CL E G H1289286Imaizumi Kuroki syndromeORPHA125312209120215
HP:0002093HP:0002878Respiratory failure1COL5A1 CL E G H1289286Imaizumi Kuroki syndromeORPHA125312209120215
HP:0002093HP:0004887Respiratory failure requiring assisted ventilation1COLQ CL E G H8292603034Endplate acetylcholinesterase deficiency603034C1864233OMIM14652226603033
HP:0002093HP:0002747Respiratory insufficiency due to muscle weakness1COLQ CL E G H8292603034Endplate acetylcholinesterase deficiency603034C1864233OMIM14652226603033
HP:0002093HP:0002643Neonatal respiratory distress1COLQ CL E G H8292603034Endplate acetylcholinesterase deficiency603034C1864233OMIM14652226603033
HP:0002093HP:0002878Respiratory failure1COLQ CL E G H8292603034Endplate acetylcholinesterase deficiency603034C1864233OMIM14652226603033
HP:0002093HP:0004878Intercostal muscle weakness1COLQ CL E G H8292603034Endplate acetylcholinesterase deficiency603034C1864233OMIM14652226603033
HP:0002093HP:0200073Respiratory insufficiency due to defective ciliary clearance1COLQ CL E G H8292603034Endplate acetylcholinesterase deficiency603034C1864233OMIM14652226603033
HP:0002093HP:0005943Respiratory arrest1COLQ CL E G H8292603034Endplate acetylcholinesterase deficiency603034C1864233OMIM14652226603033
HP:0002093HP:0005943Respiratory arrest1COQ4 CL E G H51117616276Coenzyme Q10 deficiency, primary, 7616276C4225392OMIM120919693612898
HP:0002093HP:0004887Respiratory failure requiring assisted ventilation1COQ4 CL E G H51117616276Coenzyme Q10 deficiency, primary, 7616276C4225392OMIM120919693612898
HP:0002093HP:0002747Respiratory insufficiency due to muscle weakness1COQ4 CL E G H51117616276Coenzyme Q10 deficiency, primary, 7616276C4225392OMIM120919693612898
HP:0002093HP:0002643Neonatal respiratory distress1COQ4 CL E G H51117616276Coenzyme Q10 deficiency, primary, 7616276C4225392OMIM120919693612898
HP:0002093HP:0002878Respiratory failure1COQ4 CL E G H51117616276Coenzyme Q10 deficiency, primary, 7616276C4225392OMIM120919693612898
HP:0002093HP:0004878Intercostal muscle weakness1COQ4 CL E G H51117616276Coenzyme Q10 deficiency, primary, 7616276C4225392OMIM120919693612898
HP:0002093HP:0200073Respiratory insufficiency due to defective ciliary clearance1COQ4 CL E G H51117616276Coenzyme Q10 deficiency, primary, 7616276C4225392OMIM120919693612898
HP:0002093HP:0002747Respiratory insufficiency due to muscle weakness1COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM118325302612837
HP:0002093HP:0002643Neonatal respiratory distress1COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM118325302612837
HP:0002093HP:0002878Respiratory failure1COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM118325302612837
HP:0002093HP:0004878Intercostal muscle weakness1COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM118325302612837
HP:0002093HP:0200073Respiratory insufficiency due to defective ciliary clearance1COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM118325302612837
HP:0002093HP:0005943Respiratory arrest1COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM118325302612837
HP:0002093HP:0004887Respiratory failure requiring assisted ventilation1COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM118325302612837
HP:0002093HP:0005943Respiratory arrest1COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM12932260602125
HP:0002093HP:0004887Respiratory failure requiring assisted ventilation1COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM12932260602125
HP:0002093HP:0002747Respiratory insufficiency due to muscle weakness1COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM12932260602125
HP:0002093HP:0002643Neonatal respiratory distress1COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM12932260602125
HP:0002093HP:0002878Respiratory failure1COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM12932260602125
HP:0002093HP:0004878Intercostal muscle weakness1COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM12932260602125
HP:0002093HP:0200073Respiratory insufficiency due to defective ciliary clearance1COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM12932260602125
HP:0002093HP:0002643Neonatal respiratory distress1COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM12512263603646
HP:0002093HP:0002878Respiratory failure1COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM12512263603646
HP:0002093HP:0002747Respiratory insufficiency due to muscle weakness1COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM12512263603646
HP:0002093HP:0200073Respiratory insufficiency due to defective ciliary clearance1COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM12512263603646
HP:0002093HP:0004878Intercostal muscle weakness1COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM12512263603646
HP:0002093HP:0005943Respiratory arrest1COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM12512263603646
HP:0002093HP:0004887Respiratory failure requiring assisted ventilation1COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM12512263603646
HP:0002093HP:0005943Respiratory arrest1CPS1 CL E G H1373147ORPHA111522323608307
HP:0002093HP:0004887Respiratory failure requiring assisted ventilation1CPS1 CL E G H1373147ORPHA111522323608307
HP:0002093HP:0002878Respiratory failure1CPS1 CL E G H1373147ORPHA111522323608307
HP:0002093HP:0002747Respiratory insufficiency due to muscle weakness1CPS1 CL E G H1373147ORPHA111522323608307
HP:0002093HP:0002643Neonatal respiratory distress1CPS1 CL E G H1373147ORPHA111522323608307
HP:0002093HP:0004878Intercostal muscle weakness1CPS1 CL E G H1373147ORPHA111522323608307
HP:0002093HP:0200073Respiratory insufficiency due to defective ciliary clearance1CPS1 CL E G H1373147ORPHA111522323608307
HP:0002093HP:0005943Respiratory arrest1CPT2 CL E G H1376228308ORPHA17202330600650
HP:0002093HP:0004887Respiratory failure requiring assisted ventilation1CPT2 CL E G H1376228308ORPHA17202330600650
HP:0002093HP:0002747Respiratory insufficiency due to muscle weakness1CPT2 CL E G H1376228308ORPHA17202330600650
HP:0002093HP:0002643Neonatal respiratory distress1CPT2 CL E G H1376228308ORPHA17202330600650
HP:0002093HP:0002878Respiratory failure1CPT2 CL E G H1376228308ORPHA17202330600650
HP:0002093HP:0004878Intercostal muscle weakness1CPT2 CL E G H1376228308ORPHA17202330600650
HP:0002093HP:0200073Respiratory insufficiency due to defective ciliary clearance1CPT2 CL E G H1376228308ORPHA17202330600650
HP:0002093HP:0004887Respiratory failure requiring assisted ventilation1CPT2 CL E G H1376608836Carnitine palmitoyltransferase II deficiency, lethal neonatal608836C1833518OMIM17202330600650
HP:0002093HP:0002643Neonatal respiratory distress1CPT2 CL E G H1376608836Carnitine palmitoyltransferase II deficiency, lethal neonatal608836C1833518OMIM17202330600650
HP:0002093HP:0002878Respiratory failure1CPT2 CL E G H1376608836Carnitine palmitoyltransferase II deficiency, lethal neonatal608836C1833518OMIM17202330600650
HP:0002093HP:0002747Respiratory insufficiency due to muscle weakness1CPT2 CL E G H1376608836Carnitine palmitoyltransferase II deficiency, lethal neonatal608836C1833518OMIM17202330600650
HP:0002093HP:0200073Respiratory insufficiency due to defective ciliary clearance1CPT2 CL E G H1376608836Carnitine palmitoyltransferase II deficiency, lethal neonatal608836C1833518OMIM17202330600650
HP:0002093HP:0004878Intercostal muscle weakness1CPT2 CL E G H1376608836Carnitine palmitoyltransferase II deficiency, lethal neonatal608836C1833518OMIM17202330600650
HP:0002093HP:0005943Respiratory arrest1CPT2 CL E G H1376608836Carnitine palmitoyltransferase II deficiency, lethal neonatal608836C1833518OMIM17202330600650
HP:0002093HP:0004887Respiratory failure requiring assisted ventilation1CRLF1 CL E G H92441545Corsello Opitz syndromeORPHA1802364604237
HP:0002093HP:0002643Neonatal respiratory distress1CRLF1 CL E G H92441545Corsello Opitz syndromeORPHA1802364604237
HP:0002093HP:0002878Respiratory failure1CRLF1 CL E G H92441545Corsello Opitz syndromeORPHA1802364604237
HP:0002093HP:0002747Respiratory insufficiency due to muscle weakness1CRLF1 CL E G H92441545Corsello Opitz syndromeORPHA1802364604237
HP:0002093HP:0200073Respiratory insufficiency due to defective ciliary clearance1CRLF1 CL E G H92441545Corsello Opitz syndromeORPHA1802364604237
HP:0002093HP:0004878Intercostal muscle weakness1CRLF1 CL E G H92441545Corsello Opitz syndromeORPHA1802364604237
HP:0002093HP:0005943Respiratory arrest1CRLF1 CL E G H92441545Corsello Opitz syndromeORPHA1802364604237
HP:0002093HP:0005943Respiratory arrest1CSF2RB CL E G H1439614370Surfactant metabolism dysfunction, pulmonary, 5614370C3280574OMIM13612436138981
HP:0002093HP:0004887Respiratory failure requiring assisted ventilation1CSF2RB CL E G H1439614370Surfactant metabolism dysfunction, pulmonary, 5614370C3280574OMIM13612436138981
HP:0002093HP:0002747Respiratory insufficiency due to muscle weakness1CSF2RB CL E G H1439614370Surfactant metabolism dysfunction, pulmonary, 5614370C3280574OMIM13612436138981
HP:0002093HP:0002643Neonatal respiratory distress1CSF2RB CL E G H1439614370Surfactant metabolism dysfunction, pulmonary, 5614370C3280574OMIM13612436138981
HP:0002093HP:0002878Respiratory failure1CSF2RB CL E G H1439614370Surfactant metabolism dysfunction, pulmonary, 5614370C3280574OMIM13612436138981
HP:0002093HP:0200073Respiratory insufficiency due to defective ciliary clearance1CSF2RB CL E G H1439614370Surfactant metabolism dysfunction, pulmonary, 5614370C3280574OMIM13612436138981
HP:0002093HP:0004878Intercostal muscle weakness1CSF2RB CL E G H1439614370Surfactant metabolism dysfunction, pulmonary, 5614370C3280574OMIM13612436138981
HP:0002093HP:0005943Respiratory arrest1CTLA4 CL E G H1493900ORPHA11902505123890
HP:0002093HP:0004887Respiratory failure requiring assisted ventilation1CTLA4 CL E G H1493900ORPHA11902505123890
HP:0002093HP:0002747Respiratory insufficiency due to muscle weakness1CTLA4 CL E G H1493900ORPHA11902505123890
HP:0002093HP:0002643Neonatal respiratory distress1CTLA4 CL E G H1493900ORPHA11902505123890
HP:0002093HP:0002878Respiratory failure1CTLA4 CL E G H1493900ORPHA11902505123890
HP:0002093HP:0004878Intercostal muscle weakness1CTLA4 CL E G H1493900ORPHA11902505123890
HP:0002093HP:0200073Respiratory insufficiency due to defective ciliary clearance1CTLA4 CL E G H1493900ORPHA11902505123890
HP:0002093HP:0004887Respiratory failure requiring assisted ventilation1CTSD CL E G H1509610127Ceroid lipofuscinosis neuronal 10610127C1864669OMIM15272529116840
HP:0002093HP:0002747Respiratory insufficiency due to muscle weakness1CTSD CL E G H1509610127Ceroid lipofuscinosis neuronal 10610127C1864669OMIM15272529116840
HP:0002093HP:0002643Neonatal respiratory distress1CTSD CL E G H1509610127Ceroid lipofuscinosis neuronal 10610127C1864669OMIM15272529116840
HP:0002093HP:0002878Respiratory failure1CTSD CL E G H1509610127Ceroid lipofuscinosis neuronal 10610127C1864669OMIM15272529116840
HP:0002093HP:0004878Intercostal muscle weakness1CTSD CL E G H1509610127Ceroid lipofuscinosis neuronal 10610127C1864669OMIM15272529116840
HP:0002093HP:0200073Respiratory insufficiency due to defective ciliary clearance1CTSD CL E G H1509610127Ceroid lipofuscinosis neuronal 10610127C1864669OMIM15272529116840
HP:0002093HP:0005943Respiratory arrest1CTSD CL E G H1509610127Ceroid lipofuscinosis neuronal 10610127C1864669OMIM15272529116840
HP:0002093HP:0002747Respiratory insufficiency due to muscle weakness1CYP27A1 CL E G H1593213700Cholestanol storage disease213700C0238052OMIM17512605606530
HP:0002093HP:0002643Neonatal respiratory distress1CYP27A1 CL E G H1593213700Cholestanol storage disease213700C0238052OMIM17512605606530
HP:0002093HP:0002878Respiratory failure1CYP27A1 CL E G H1593213700Cholestanol storage disease213700C0238052OMIM17512605606530
HP:0002093HP:0004878Intercostal muscle weakness1CYP27A1 CL E G H1593213700Cholestanol storage disease213700C0238052OMIM17512605606530
HP:0002093HP:0200073Respiratory insufficiency due to defective ciliary clearance1CYP27A1 CL E G H1593213700Cholestanol storage disease213700C0238052OMIM17512605606530
HP:0002093HP:0005943Respiratory arrest1CYP27A1 CL E G H1593213700Cholestanol storage disease213700C0238052OMIM17512605606530
HP:0002093HP:0004887Respiratory failure requiring assisted ventilation1CYP27A1 CL E G H1593213700Cholestanol storage disease213700C0238052OMIM17512605606530
HP:0002093HP:0002643Neonatal respiratory distress1DCTN1 CL E G H1639168605Perry syndrome168605C1868594OMIM18582711601143
HP:0002093HP:0002878Respiratory failure1DCTN1 CL E G H1639168605Perry syndrome168605C1868594OMIM18582711601143
HP:0002093HP:0002747Respiratory insufficiency due to muscle weakness1DCTN1 CL E G H1639168605Perry syndrome168605C1868594OMIM18582711601143
HP:0002093HP:0200073Respiratory insufficiency due to defective ciliary clearance1DCTN1 CL E G H1639168605Perry syndrome168605C1868594OMIM18582711601143
HP:0002093HP:0004878Intercostal muscle weakness1DCTN1 CL E G H1639168605Perry syndrome168605C1868594OMIM18582711601143
HP:0002093HP:0005943Respiratory arrest1DCTN1 CL E G H1639168605Perry syndrome168605C1868594OMIM18582711601143
HP:0002093HP:0004887Respiratory failure requiring assisted ventilation1DCTN1 CL E G H1639168605Perry syndrome168605C1868594OMIM18582711601143
HP:0002093HP:0004878Intercostal muscle weakness1DLL3 CL E G H106832311Autosomal recessive spondylocostal dysostosisCN043670ORPHA12482909602768
HP:0002093HP:0200073Respiratory insufficiency due to defective ciliary clearance1DLL3 CL E G H106832311Autosomal recessive spondylocostal dysostosisCN043670ORPHA12482909602768
HP:0002093HP:0005943Respiratory arrest1DLL3 CL E G H106832311Autosomal recessive spondylocostal dysostosisCN043670ORPHA12482909602768
HP:0002093HP:0004887Respiratory failure requiring assisted ventilation1DLL3 CL E G H106832311Autosomal recessive spondylocostal dysostosisCN043670ORPHA12482909602768
HP:0002093HP:0002747Respiratory insufficiency due to muscle weakness1DLL3 CL E G H106832311Autosomal recessive spondylocostal dysostosisCN043670ORPHA12482909602768
HP:0002093HP:0002643Neonatal respiratory distress1DLL3 CL E G H106832311Autosomal recessive spondylocostal dysostosisCN043670ORPHA12482909602768
HP:0002093HP:0002878Respiratory failure1DLL3 CL E G H106832311Autosomal recessive spondylocostal dysostosisCN043670ORPHA12482909602768
HP:0002093HP:0002747Respiratory insufficiency due to muscle weakness1DMD CL E G H175698896ORPHA173702928300377
HP:0002093HP:0002643Neonatal respiratory distress1DMD CL E G H175698896ORPHA173702928300377
HP:0002093HP:0002878Respiratory failure1DMD CL E G H175698896ORPHA173702928300377
HP:0002093HP:0004878Intercostal muscle weakness1DMD CL E G H175698896ORPHA173702928300377
HP:0002093HP:0200073Respiratory insufficiency due to defective ciliary clearance1DMD CL E G H175698896ORPHA173702928300377
HP:0002093HP:0005943Respiratory arrest1DMD CL E G H175698896ORPHA173702928300377
HP:0002093HP:0004887Respiratory failure requiring assisted ventilation1DMD CL E G H175698896ORPHA173702928300377
HP:0002093HP:0004887Respiratory failure requiring assisted ventilation1DMD CL E G H1756310200Duchenne muscular dystrophy310200C0013264OMIM173702928300377
HP:0002093HP:0002643Neonatal respiratory distress1DMD CL E G H1756310200Duchenne muscular dystrophy310200C0013264OMIM173702928300377
HP:0002093HP:0002878Respiratory failure1DMD CL E G H1756310200Duchenne muscular dystrophy310200C0013264OMIM173702928300377
HP:0002093HP:0002747Respiratory insufficiency due to muscle weakness1DMD CL E G H1756310200Duchenne muscular dystrophy310200C0013264OMIM173702928300377
HP:0002093HP:0200073Respiratory insufficiency due to defective ciliary clearance1DMD CL E G H1756310200Duchenne muscular dystrophy310200C0013264OMIM173702928300377
HP:0002093HP:0004878Intercostal muscle weakness1DMD CL E G H1756310200Duchenne muscular dystrophy310200C0013264OMIM173702928300377
HP:0002093HP:0005943Respiratory arrest1DMD CL E G H1756310200Duchenne muscular dystrophy310200C0013264OMIM173702928300377
HP:0002093HP:0002747Respiratory insufficiency due to muscle weakness1DNM2 CL E G H1785615368Lethal congenital contracture syndrome 5615368C3809272OMIM18852974602378
HP:0002093HP:0002643Neonatal respiratory distress1DNM2 CL E G H1785615368Lethal congenital contracture syndrome 5615368C3809272OMIM18852974602378
HP:0002093HP:0002878Respiratory failure1DNM2 CL E G H1785615368Lethal congenital contracture syndrome 5615368C3809272OMIM18852974602378
HP:0002093HP:0004878Intercostal muscle weakness1DNM2 CL E G H1785615368Lethal congenital contracture syndrome 5615368C3809272OMIM18852974602378
HP:0002093HP:0200073Respiratory insufficiency due to defective ciliary clearance1DNM2 CL E G H1785615368Lethal congenital contracture syndrome 5615368C3809272OMIM18852974602378
HP:0002093HP:0005943Respiratory arrest1DNM2 CL E G H1785615368Lethal congenital contracture syndrome 5615368C3809272OMIM18852974602378
HP:0002093HP:0004887Respiratory failure requiring assisted ventilation1DNM2 CL E G H1785615368Lethal congenital contracture syndrome 5615368C3809272OMIM18852974602378
HP:0002093HP:0004878Intercostal muscle weakness1DOK7 CL E G H285489994ORPHA184026594610285
HP:0002093HP:0200073Respiratory insufficiency due to defective ciliary clearance1DOK7 CL E G H285489994ORPHA184026594610285
HP:0002093HP:0005943Respiratory arrest1DOK7 CL E G H285489994ORPHA184026594610285
HP:0002093HP:0004887Respiratory failure requiring assisted ventilation1DOK7 CL E G H285489994ORPHA184026594610285
HP:0002093HP:0002878Respiratory failure1DOK7 CL E G H285489994ORPHA184026594610285
HP:0002093HP:0002747Respiratory insufficiency due to muscle weakness1DOK7 CL E G H285489994ORPHA184026594610285
HP:0002093HP:0002643Neonatal respiratory distress1DOK7 CL E G H285489994ORPHA184026594610285
HP:0002093HP:0005943Respiratory arrest1DST CL E G H667614653Neuropathy, hereditary sensory and autonomic, type VI614653C3539003OMIM129271090113810
HP:0002093HP:0004887Respiratory failure requiring assisted ventilation1DST CL E G H667614653Neuropathy, hereditary sensory and autonomic, type VI614653C3539003OMIM129271090113810
HP:0002093HP:0002747Respiratory insufficiency due to muscle weakness1DST CL E G H667614653Neuropathy, hereditary sensory and autonomic, type VI614653C3539003OMIM129271090113810
HP:0002093HP:0002643Neonatal respiratory distress1DST CL E G H667614653Neuropathy, hereditary sensory and autonomic, type VI614653C3539003OMIM129271090113810
HP:0002093HP:0002878Respiratory failure1DST CL E G H667614653Neuropathy, hereditary sensory and autonomic, type VI614653C3539003OMIM129271090113810
HP:0002093HP:0004878Intercostal muscle weakness1DST CL E G H667614653Neuropathy, hereditary sensory and autonomic, type VI614653C3539003OMIM129271090113810
HP:0002093HP:0200073Respiratory insufficiency due to defective ciliary clearance1DST CL E G H667614653Neuropathy, hereditary sensory and autonomic, type VI614653C3539003OMIM129271090113810
HP:0002093HP:0004878Intercostal muscle weakness1DYNC2H1 CL E G H79659474ORPHA115212962603297
HP:0002093HP:0200073Respiratory insufficiency due to defective ciliary clearance1DYNC2H1 CL E G H79659474ORPHA115212962603297
HP:0002093HP:0004887Respiratory failure requiring assisted ventilation1DYNC2H1 CL E G H7965993271ORPHA115212962603297
HP:0002093HP:0005943Respiratory arrest1DYNC2H1 CL E G H79659474ORPHA115212962603297
HP:0002093HP:0002747Respiratory insufficiency due to muscle weakness1DYNC2H1 CL E G H7965993271ORPHA115212962603297
HP:0002093HP:0002643Neonatal respiratory distress1DYNC2H1 CL E G H7965993271ORPHA115212962603297
HP:0002093HP:0002878Respiratory failure1DYNC2H1 CL E G H7965993271ORPHA115212962603297
HP:0002093HP:0004887Respiratory failure requiring assisted ventilation1DYNC2H1 CL E G H79659474ORPHA115212962603297
HP:0002093HP:0004878Intercostal muscle weakness1DYNC2H1 CL E G H7965993271ORPHA115212962603297
HP:0002093HP:0200073Respiratory insufficiency due to defective ciliary clearance1DYNC2H1 CL E G H7965993271ORPHA115212962603297
HP:0002093HP:0002878Respiratory failure1DYNC2H1 CL E G H79659474ORPHA115212962603297
HP:0002093HP:0002747Respiratory insufficiency due to muscle weakness1DYNC2H1 CL E G H79659474ORPHA115212962603297
HP:0002093HP:0002643Neonatal respiratory distress1DYNC2H1 CL E G H79659474ORPHA115212962603297
HP:0002093HP:0005943Respiratory arrest1DYNC2H1 CL E G H7965993271ORPHA115212962603297
HP:0002093HP:0004887Respiratory failure requiring assisted ventilation1DYNC2LI1 CL E G H51626474ORPHA141424595617083
HP:0002093HP:0002747Respiratory insufficiency due to muscle weakness1DYNC2LI1 CL E G H51626474ORPHA141424595617083
HP:0002093HP:0002643Neonatal respiratory distress1DYNC2LI1 CL E G H51626474ORPHA141424595617083
HP:0002093HP:0002878Respiratory failure1DYNC2LI1 CL E G H51626474ORPHA141424595617083
HP:0002093HP:0004878Intercostal muscle weakness1DYNC2LI1 CL E G H51626474ORPHA141424595617083
HP:0002093HP:0200073Respiratory insufficiency due to defective ciliary clearance1DYNC2LI1 CL E G H51626474ORPHA141424595617083
HP:0002093HP:0005943Respiratory arrest1DYNC2LI1 CL E G H51626474ORPHA141424595617083
HP:0002093HP:0002643Neonatal respiratory distress1DZIP1L CL E G H199221731ORPHA19026551617570
HP:0002093HP:0002878Respiratory failure1DZIP1L CL E G H199221731ORPHA19026551617570
HP:0002093HP:0002747Respiratory insufficiency due to muscle weakness1DZIP1L CL E G H199221731ORPHA19026551617570
HP:0002093HP:0004878Intercostal muscle weakness1DZIP1L CL E G H199221731ORPHA19026551617570
HP:0002093HP:0200073Respiratory insufficiency due to defective ciliary clearance1DZIP1L CL E G H199221731ORPHA19026551617570
HP:0002093HP:0005943Respiratory arrest1DZIP1L CL E G H199221731ORPHA19026551617570
HP:0002093HP:0004887Respiratory failure requiring assisted ventilation1DZIP1L CL E G H199221731ORPHA19026551617570
HP:0002093HP:0002878Respiratory failure1EDN3 CL E G H1908661ORPHA11553178131242
HP:0002093HP:0002747Respiratory insufficiency due to muscle weakness1EDN3 CL E G H1908661ORPHA11553178131242
HP:0002093HP:0002643Neonatal respiratory distress1EDN3 CL E G H1908661ORPHA11553178131242
HP:0002093HP:0004878Intercostal muscle weakness1EDN3 CL E G H1908661ORPHA11553178131242
HP:0002093HP:0200073Respiratory insufficiency due to defective ciliary clearance1EDN3 CL E G H1908661ORPHA11553178131242
HP:0002093HP:0005943Respiratory arrest1EDN3 CL E G H1908661ORPHA11553178131242
HP:0002093HP:0004887Respiratory failure requiring assisted ventilation1EDN3 CL E G H1908661ORPHA11553178131242
HP:0002093HP:0005943Respiratory arrest1EXOSC3 CL E G H51010614678Pontocerebellar hypoplasia, type 1b614678C3553449OMIM119017944606489
HP:0002093HP:0004887Respiratory failure requiring assisted ventilation1EXOSC3 CL E G H51010614678Pontocerebellar hypoplasia, type 1b614678C3553449OMIM119017944606489
HP:0002093HP:0002747Respiratory insufficiency due to muscle weakness1EXOSC3 CL E G H51010614678Pontocerebellar hypoplasia, type 1b614678C3553449OMIM119017944606489
HP:0002093HP:0002643Neonatal respiratory distress1EXOSC3 CL E G H51010614678Pontocerebellar hypoplasia, type 1b614678C3553449OMIM119017944606489
HP:0002093HP:0002878Respiratory failure1EXOSC3 CL E G H51010614678Pontocerebellar hypoplasia, type 1b614678C3553449OMIM119017944606489
HP:0002093HP:0200073Respiratory insufficiency due to defective ciliary clearance1EXOSC3 CL E G H51010614678Pontocerebellar hypoplasia, type 1b614678C3553449OMIM119017944606489
HP:0002093HP:0004878Intercostal muscle weakness1EXOSC3 CL E G H51010614678Pontocerebellar hypoplasia, type 1b614678C3553449OMIM119017944606489
HP:0002093HP:0005943Respiratory arrest1EXOSC9 CL E G H5393618065PONTOCEREBELLAR HYPOPLASIA, TYPE 1D618065CN252648OMIM11569137606180
HP:0002093HP:0004887Respiratory failure requiring assisted ventilation1EXOSC9 CL E G H5393618065PONTOCEREBELLAR HYPOPLASIA, TYPE 1D618065CN252648OMIM11569137606180
HP:0002093HP:0002878Respiratory failure1EXOSC9 CL E G H5393618065PONTOCEREBELLAR HYPOPLASIA, TYPE 1D618065CN252648OMIM11569137606180
HP:0002093HP:0002747Respiratory insufficiency due to muscle weakness1EXOSC9 CL E G H5393618065PONTOCEREBELLAR HYPOPLASIA, TYPE 1D618065CN252648OMIM11569137606180
HP:0002093HP:0002643Neonatal respiratory distress1EXOSC9 CL E G H5393618065PONTOCEREBELLAR HYPOPLASIA, TYPE 1D618065CN252648OMIM11569137606180
HP:0002093HP:0004878Intercostal muscle weakness1EXOSC9 CL E G H5393618065PONTOCEREBELLAR HYPOPLASIA, TYPE 1D618065CN252648OMIM11569137606180
HP:0002093HP:0200073Respiratory insufficiency due to defective ciliary clearance1EXOSC9 CL E G H5393618065PONTOCEREBELLAR HYPOPLASIA, TYPE 1D618065CN252648OMIM11569137606180
HP:0002093HP:0002747Respiratory insufficiency due to muscle weakness1FBN1 CL E G H2200614185Geleophysic dysplasia 2614185C3280054OMIM159703603134797
HP:0002093HP:0002643Neonatal respiratory distress1FBN1 CL E G H2200614185Geleophysic dysplasia 2614185C3280054OMIM159703603134797
HP:0002093HP:0002878Respiratory failure1FBN1 CL E G H2200614185Geleophysic dysplasia 2614185C3280054OMIM159703603134797
HP:0002093HP:0004878Intercostal muscle weakness1FBN1 CL E G H2200614185Geleophysic dysplasia 2614185C3280054OMIM159703603134797
HP:0002093HP:0200073Respiratory insufficiency due to defective ciliary clearance1FBN1 CL E G H2200614185Geleophysic dysplasia 2614185C3280054OMIM159703603134797
HP:0002093HP:0005943Respiratory arrest1FBN1 CL E G H2200614185Geleophysic dysplasia 2614185C3280054OMIM159703603134797
HP:0002093HP:0004887Respiratory failure requiring assisted ventilation1FBN1 CL E G H2200614185Geleophysic dysplasia 2614185C3280054OMIM159703603134797
HP:0002093HP:0004887Respiratory failure requiring assisted ventilation1FGFR1 CL E G H22602117Encephalopathy recurrent of childhoodORPHA16883688136350
HP:0002093HP:0002747Respiratory insufficiency due to muscle weakness1FGFR1 CL E G H22602117Encephalopathy recurrent of childhoodORPHA16883688136350
HP:0002093HP:0002643Neonatal respiratory distress1FGFR1 CL E G H22602117Encephalopathy recurrent of childhoodORPHA16883688136350