Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the respiratory system (HP:0002086)help
Parent Node:
expand
Abnormal respiratory system physiology (HP:0002795)help
..Starting node
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Respiratory insufficiency (HP:0002093)help
Term ID: 2093
Name: Respiratory insufficiency
Synonym: 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
..expandDyspnea (HP:0002094) help
..expandobsolete Decreased pulmonary function (HP:0005952) 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 entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002093HP:0002093Respiratory insufficiency0AAAS CL E G H808613666ORPHA:869Triple A syndromeHP:0040283 - Occasional57
HP:0002093HP:0002093Respiratory insufficiency0ABCA12 CL E G H2615414637ORPHA:457Harlequin ichthyosisHP:0040283 - Occasional130
HP:0002093HP:0002093Respiratory insufficiency0ABCA3 CL E G H2133ORPHA:70587Infant acute respiratory distress syndrome147
HP:0002093HP:0002093Respiratory insufficiency0ABCA3 CL E G H2133OMIM:610921Surfactant metabolism dysfunction, pulmonary, 3147
HP:0002093HP:0002093Respiratory insufficiency0ABCB11 CL E G H864742ORPHA:69665Intrahepatic cholestasis of pregnancy146
HP:0002093HP:0002093Respiratory insufficiency0ABCB4 CL E G H524445ORPHA:69665Intrahepatic cholestasis of pregnancy111
HP:0002093HP:0002093Respiratory insufficiency0ACADVL CL E G H3792OMIM:201475Very long-chain acyl-CoA dehydrogenase deficiency200
HP:0002093HP:0002093Respiratory insufficiency0ACE CL E G H16362707OMIM:267430Renal tubular dysgenesis.113
HP:0002093HP:0002093Respiratory insufficiency0ACOX1 CL E G H51119OMIM:618960MITCHELL SYNDROME; MITCH120
HP:0002093HP:0002093Respiratory insufficiency0ACOX1 CL E G H51119ORPHA:2971Peroxisomal acyl-CoA oxidase deficiencyHP:0040282 - Frequent120
HP:0002093HP:0002093Respiratory insufficiency0ACTA1 CL E G H58129ORPHA:171439Childhood-onset nemaline myopathy96
HP:0002093HP:0002093Respiratory insufficiency0ACTA1 CL E G H58129ORPHA:2020Congenital fiber-type disproportion myopathy96
HP:0002093HP:0002093Respiratory insufficiency0ACTA1 CL E G H58129ORPHA:171433Intermediate nemaline myopathy96
HP:0002093HP:0002093Respiratory insufficiency0ACTA1 CL E G H58129OMIM:255310Myopathy, congenital, with fiber-type disproportion.96
HP:0002093HP:0002093Respiratory insufficiency0ACTA1 CL E G H58129OMIM:161800Nemaline myopathy 3.96
HP:0002093HP:0002093Respiratory insufficiency0ACTA1 CL E G H58129ORPHA:97244Rigid spine syndromeHP:0040281 - Very frequent96
HP:0002093HP:0002093Respiratory insufficiency0ACTA1 CL E G H58129ORPHA:171430Severe congenital nemaline myopathy96
HP:0002093HP:0002093Respiratory insufficiency0ACTA1 CL E G H58129ORPHA:171436Typical nemaline myopathyHP:0040282 - Frequent96
HP:0002093HP:0002093Respiratory insufficiency0ACTN2 CL E G H88164OMIM:618654MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES; MYOCOZ307
HP:0002093HP:0002093Respiratory insufficiency0ACVR1 CL E G H90171ORPHA:337Fibrodysplasia ossificans progressivaHP:0040282 - Frequent49
HP:0002093HP:0002093Respiratory insufficiency0ACVR1 CL E G H90171OMIM:135100Fibrodysplasia ossificans progressiva.49
HP:0002093HP:0002093Respiratory insufficiency0ADAMTS3 CL E G H9508219ORPHA:2136Hennekam syndromeHP:0040283 - Occasional1
HP:0002093HP:0002093Respiratory insufficiency0ADPRS CL E G H5493621304OMIM:618170Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
HP:0002093HP:0002093Respiratory insufficiency0AFF3 CL E G H38996473OMIM:619297KINSSHIP SYNDROME; KINS1
HP:0002093HP:0002093Respiratory insufficiency0AGGF1 CL E G H5510924684ORPHA:90308Klippel-Trénaunay syndromeHP:0040283 - Occasional1
HP:0002093HP:0002093Respiratory insufficiency0AGK CL E G H5575021869OMIM:212350Sengers syndrome.82
HP:0002093HP:0002093Respiratory insufficiency0AGRN CL E G H375790329OMIM:615120Myasthenic syndrome, congenital, 8HP:0040283 - Occasional127
HP:0002093HP:0002093Respiratory insufficiency0AGRN CL E G H375790329ORPHA:98913Postsynaptic congenital myasthenic syndromes127
HP:0002093HP:0002093Respiratory insufficiency0AGRN CL E G H375790329ORPHA:98914Presynaptic congenital myasthenic syndromes127
HP:0002093HP:0002093Respiratory insufficiency0AGT CL E G H183333OMIM:267430Renal tubular dysgenesis.48
HP:0002093HP:0002093Respiratory insufficiency0AGTPBP1 CL E G H2328717258OMIM:618276Neurodegeneration, childhood-onset, with cerebellar atrophy1
HP:0002093HP:0002093Respiratory insufficiency0AGTPBP1 CL E G H2328717258ORPHA:2254Pontocerebellar hypoplasia type 11
HP:0002093HP:0002093Respiratory insufficiency0AGTR1 CL E G H185336OMIM:267430Renal tubular dysgenesis.33
HP:0002093HP:0002093Respiratory insufficiency0AHCY CL E G H191343ORPHA:88618S-adenosylhomocysteine hydrolase deficiency31
HP:0002093HP:0002093Respiratory insufficiency0AHDC1 CL E G H2724525230ORPHA:412069AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome36
HP:0002093HP:0002093Respiratory insufficiency0AIFM1 CL E G H91318768OMIM:300816Combined oxidative phosphorylation deficiency 660
HP:0002093HP:0002093Respiratory insufficiency0AIFM1 CL E G H91318768ORPHA:238329Severe X-linked mitochondrial encephalomyopathyHP:0040282 - Frequent60
HP:0002093HP:0002093Respiratory insufficiency0AK9 CL E G H22126433814ORPHA:98913Postsynaptic congenital myasthenic syndromes1
HP:0002093HP:0002093Respiratory insufficiency0ALAD CL E G H210395ORPHA:100924Porphyria due to ALA dehydratase deficiencyHP:0040283 - Occasional62
HP:0002093HP:0002093Respiratory insufficiency0ALDH1A2 CL E G H885415472OMIM:620025
HP:0002093HP:0002093Respiratory insufficiency0ALDH7A1 CL E G H501877OMIM:266100Epilepsy, pyridoxine-dependent227
HP:0002093HP:0002093Respiratory insufficiency0ALDH7A1 CL E G H501877ORPHA:3006Pyridoxine-dependent epilepsy227
HP:0002093HP:0002093Respiratory insufficiency0ALG1 CL E G H5605218294ORPHA:79327ALG1-CDG58
HP:0002093HP:0002093Respiratory insufficiency0ALG14 CL E G H19985728287OMIM:619036MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA12
HP:0002093HP:0002093Respiratory insufficiency0ANG CL E G H283483ORPHA:803Amyotrophic lateral sclerosis32
HP:0002093HP:0002093Respiratory insufficiency0ANXA11 CL E G H311535ORPHA:803Amyotrophic lateral sclerosis
HP:0002093HP:0002093Respiratory insufficiency0ARSL CL E G H415719ORPHA:79345Brachytelephalangic chondrodysplasia punctata
HP:0002093HP:0002093Respiratory insufficiency0ASAH1 CL E G H427735ORPHA:333Farber diseaseHP:0040283 - Occasional78
HP:0002093HP:0002093Respiratory insufficiency0ASAH1 CL E G H427735OMIM:228000Farber lipogranulomatosis.78
HP:0002093HP:0002093Respiratory insufficiency0ASAH1 CL E G H427735OMIM:159950Spinal muscular atrophy with progressive myoclonic epilepsy78
HP:0002093HP:0002093Respiratory insufficiency0ASAH1 CL E G H427735ORPHA:2590Spinal muscular atrophy-progressive myoclonic epilepsy syndrome78
HP:0002093HP:0002093Respiratory insufficiency0ASCC1 CL E G H5100824268OMIM:616867Spinal muscular atrophy with congenital bone fractures 22
HP:0002093HP:0002093Respiratory insufficiency0ASNS CL E G H440753OMIM:615574Asparagine synthetase deficiency.17
HP:0002093HP:0002093Respiratory insufficiency0ASXL1 CL E G H17102318318OMIM:605039Bohring-Opitz syndrome145
HP:0002093HP:0002093Respiratory insufficiency0ATAD1 CL E G H8489625903OMIM:618011Hyperekplexia 4
HP:0002093HP:0002093Respiratory insufficiency0ATP8B1 CL E G H52053706ORPHA:69665Intrahepatic cholestasis of pregnancy144
HP:0002093HP:0002093Respiratory insufficiency0ATXN1 CL E G H631010548ORPHA:98755Spinocerebellar ataxia type 119
HP:0002093HP:0002093Respiratory insufficiency0ATXN2 CL E G H631110555ORPHA:803Amyotrophic lateral sclerosis11
HP:0002093HP:0002093Respiratory insufficiency0B3GALT6 CL E G H12679217978ORPHA:536467B3GALT6-related spondylodysplastic Ehlers-Danlos syndromeHP:0040283 - Occasional38
HP:0002093HP:0002093Respiratory insufficiency0B3GALT6 CL E G H12679217978ORPHA:93359Spondyloepimetaphyseal dysplasia with joint laxity38
HP:0002093HP:0002093Respiratory insufficiency0BAG3 CL E G H9531939OMIM:612954Myopathy, myofibrillar, 6.204
HP:0002093HP:0002093Respiratory insufficiency0BCHE CL E G H590983ORPHA:132Butyrylcholinesterase deficiency67
HP:0002093HP:0002093Respiratory insufficiency0BDNF CL E G H6271033ORPHA:661Ondine syndromeHP:0040281 - Very frequent5
HP:0002093HP:0002093Respiratory insufficiency0BICD2 CL E G H2329917208OMIM:618291Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant46
HP:0002093HP:0002093Respiratory insufficiency0BIN1 CL E G H2741052ORPHA:169189Autosomal dominant centronuclear myopathy99
HP:0002093HP:0002093Respiratory insufficiency0BIN1 CL E G H2741052ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040282 - Frequent99
HP:0002093HP:0002093Respiratory insufficiency0BIN1 CL E G H2741052OMIM:255200Myopathy, centronuclear, 299
HP:0002093HP:0002093Respiratory insufficiency0BLM CL E G H6411058ORPHA:125Bloom syndrome314
HP:0002093HP:0002093Respiratory insufficiency0BMPER CL E G H16866724154OMIM:608022DIAPHANOSPONDYLODYSOSTOSIS.78
HP:0002093HP:0002093Respiratory insufficiency0BOLA3 CL E G H38896224415OMIM:614299Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia.14
HP:0002093HP:0002093Respiratory insufficiency0BSCL2 CL E G H2658015832ORPHA:363400Severe neurodegenerative syndrome with lipodystrophy105
HP:0002093HP:0002093Respiratory insufficiency0C19ORF12 CL E G H8363625443ORPHA:289560Mitochondrial membrane protein-associated neurodegenerationHP:0040284 - Very rare114
HP:0002093HP:0002093Respiratory insufficiency0C9ORF72 CL E G H20322828337ORPHA:803Amyotrophic lateral sclerosis56
HP:0002093HP:0002093Respiratory insufficiency0CANT1 CL E G H12458319721OMIM:251450Desbuquois dysplasia 185
HP:0002093HP:0002093Respiratory insufficiency0CCBE1 CL E G H14737229426ORPHA:2136Hennekam syndromeHP:0040283 - Occasional147
HP:0002093HP:0002093Respiratory insufficiency0CCDC103 CL E G H38838932700ORPHA:244Primary ciliary dyskinesia36
HP:0002093HP:0002093Respiratory insufficiency0CCDC174 CL E G H5124428033OMIM:616816Hypotonia, infantile, with psychomotor retardation1
HP:0002093HP:0002093Respiratory insufficiency0CCDC39 CL E G H33982925244OMIM:613807Ciliary dyskinesia, primary, 14126
HP:0002093HP:0002093Respiratory insufficiency0CCDC39 CL E G H33982925244ORPHA:244Primary ciliary dyskinesia126
HP:0002093HP:0002093Respiratory insufficiency0CCDC40 CL E G H5503626090OMIM:613808CILIARY DYSKINESIA, PRIMARY, 15; CILD15182
HP:0002093HP:0002093Respiratory insufficiency0CCDC40 CL E G H5503626090ORPHA:244Primary ciliary dyskinesia182
HP:0002093HP:0002093Respiratory insufficiency0CCDC65 CL E G H8547829937OMIM:615504Ciliary dyskinesia, primary, 2723
HP:0002093HP:0002093Respiratory insufficiency0CCDC65 CL E G H8547829937ORPHA:244Primary ciliary dyskinesia23
HP:0002093HP:0002093Respiratory insufficiency0CCNF CL E G H8991591ORPHA:803Amyotrophic lateral sclerosis
HP:0002093HP:0002093Respiratory insufficiency0CCNO CL E G H1030918576ORPHA:244Primary ciliary dyskinesia23
HP:0002093HP:0002093Respiratory insufficiency0CDC45 CL E G H83181739ORPHA:2554Ear-patella-short stature syndrome9
HP:0002093HP:0002093Respiratory insufficiency0CDC6 CL E G H9901744ORPHA:2554Ear-patella-short stature syndrome31
HP:0002093HP:0002093Respiratory insufficiency0CDT1 CL E G H8162024576ORPHA:2554Ear-patella-short stature syndrome50
HP:0002093HP:0002093Respiratory insufficiency0CEP120 CL E G H15324126690ORPHA:474Jeune syndromeHP:0040282 - Frequent7
HP:0002093HP:0002093Respiratory insufficiency0CEP120 CL E G H15324126690OMIM:616300Short-Rib thoracic dysplasia 13 with or without polydactyly.7
HP:0002093HP:0002093Respiratory insufficiency0CFAP221 CL E G H20037333720ORPHA:244Primary ciliary dyskinesia
HP:0002093HP:0002093Respiratory insufficiency0CFAP298 CL E G H566831301OMIM:615500Ciliary dyskinesia, primary, 26
HP:0002093HP:0002093Respiratory insufficiency0CFAP298 CL E G H566831301ORPHA:244Primary ciliary dyskinesia
HP:0002093HP:0002093Respiratory insufficiency0CFAP300 CL E G H8501628188OMIM:618063Ciliary dyskinesia, primary, 38
HP:0002093HP:0002093Respiratory insufficiency0CFAP300 CL E G H8501628188ORPHA:244Primary ciliary dyskinesia
HP:0002093HP:0002093Respiratory insufficiency0CFAP410 CL E G H7551260ORPHA:803Amyotrophic lateral sclerosis
HP:0002093HP:0002093Respiratory insufficiency0CFL2 CL E G H10731875OMIM:610687Nemaline myopathy 735
HP:0002093HP:0002093Respiratory insufficiency0CFL2 CL E G H10731875ORPHA:171436Typical nemaline myopathyHP:0040282 - Frequent35
HP:0002093HP:0002093Respiratory insufficiency0CHAT CL E G H11031912OMIM:254210Myasthenic syndrome, congenital, 6, presynaptic65
HP:0002093HP:0002093Respiratory insufficiency0CHAT CL E G H11031912ORPHA:98914Presynaptic congenital myasthenic syndromes65
HP:0002093HP:0002093Respiratory insufficiency0CHCHD10 CL E G H40091615559ORPHA:803Amyotrophic lateral sclerosis11
HP:0002093HP:0002093Respiratory insufficiency0CHD7 CL E G H5563620626ORPHA:138CHARGE syndromeHP:0040283 - Occasional515
HP:0002093HP:0002093Respiratory insufficiency0CHMP2B CL E G H2597824537ORPHA:803Amyotrophic lateral sclerosis42
HP:0002093HP:0002093Respiratory insufficiency0CHRNA1 CL E G H11341955OMIM:601462Myasthenic syndrome, congenital, 1A, slow-channel74
HP:0002093HP:0002093Respiratory insufficiency0CHRNA1 CL E G H11341955OMIM:608930Myasthenic syndrome, congenital, 1B, fast-channel74
HP:0002093HP:0002093Respiratory insufficiency0CHRNA1 CL E G H11341955ORPHA:98913Postsynaptic congenital myasthenic syndromes74
HP:0002093HP:0002093Respiratory insufficiency0CHRNB1 CL E G H11401961OMIM:616314Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency.53
HP:0002093HP:0002093Respiratory insufficiency0CHRNB1 CL E G H11401961ORPHA:98913Postsynaptic congenital myasthenic syndromes53
HP:0002093HP:0002093Respiratory insufficiency0CHRND CL E G H11441965OMIM:616321Myasthenic syndrome, congenital, 3A, slow-channel.88
HP:0002093HP:0002093Respiratory insufficiency0CHRND CL E G H11441965OMIM:616322Myasthenic syndrome, congenital, 3B, fast-channel.88
HP:0002093HP:0002093Respiratory insufficiency0CHRND CL E G H11441965OMIM:616323Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency.88
HP:0002093HP:0002093Respiratory insufficiency0CHRND CL E G H11441965ORPHA:98913Postsynaptic congenital myasthenic syndromes88
HP:0002093HP:0002093Respiratory insufficiency0CHRNE CL E G H11451966OMIM:605809Myasthenic syndrome, congenital, 4A, slow-channel139
HP:0002093HP:0002093Respiratory insufficiency0CHRNE CL E G H11451966OMIM:616324Myasthenic syndrome, congenital, 4B, fast-channel.139
HP:0002093HP:0002093Respiratory insufficiency0CHRNE CL E G H11451966OMIM:608931Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency139
HP:0002093HP:0002093Respiratory insufficiency0CHRNE CL E G H11451966ORPHA:98913Postsynaptic congenital myasthenic syndromes139
HP:0002093HP:0002093Respiratory insufficiency0CHRNG CL E G H11461967ORPHA:2990Autosomal recessive multiple pterygium syndrome68
HP:0002093HP:0002093Respiratory insufficiency0CHRNG CL E G H11461967OMIM:265000Multiple pterygium syndrome, escobar variant68
HP:0002093HP:0002093Respiratory insufficiency0CISD2 CL E G H49385624212ORPHA:3463Wolfram syndromeHP:0040283 - Occasional3
HP:0002093HP:0002093Respiratory insufficiency0CLCF1 CL E G H2352917412ORPHA:1545Crisponi syndromeHP:0040281 - Very frequent6
HP:0002093HP:0002093Respiratory insufficiency0CLCN6 CL E G H11852024OMIM:619173NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0002093HP:0002093Respiratory insufficiency0CLPB CL E G H8157030664ORPHA:4450383-methylglutaconic aciduria type 738
HP:0002093HP:0002093Respiratory insufficiency0CNTN1 CL E G H12722171OMIM:612540Myopathy, congenital, compton-north40
HP:0002093HP:0002093Respiratory insufficiency0CNTNAP1 CL E G H85068011OMIM:618186Neuropathy, congenital hypomyelinating, 3.HP:0003623 - Neonatal onset9
HP:0002093HP:0002093Respiratory insufficiency0COA8 CL E G H8433420492ORPHA:436271Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
HP:0002093HP:0002093Respiratory insufficiency0COG7 CL E G H9194918622OMIM:608779Congenital disorder of glycosylation, type IIe.64
HP:0002093HP:0002093Respiratory insufficiency0COL11A1 CL E G H13012186ORPHA:2021FibrochondrogenesisHP:0040282 - Frequent215
HP:0002093HP:0002093Respiratory insufficiency0COL11A2 CL E G H13022187ORPHA:2021FibrochondrogenesisHP:0040282 - Frequent222
HP:0002093HP:0002093Respiratory insufficiency0COL12A1 CL E G H13032188ORPHA:75840Congenital muscular dystrophy, Ullrich type65
HP:0002093HP:0002093Respiratory insufficiency0COL13A1 CL E G H13052190OMIM:616720Myasthenic syndrome, congenital, 19.6
HP:0002093HP:0002093Respiratory insufficiency0COL13A1 CL E G H13052190ORPHA:98913Postsynaptic congenital myasthenic syndromes6
HP:0002093HP:0002093Respiratory insufficiency0COL13A1 CL E G H13052190ORPHA:98914Presynaptic congenital myasthenic syndromes6
HP:0002093HP:0002093Respiratory insufficiency0COL1A1 CL E G H12772197ORPHA:1310Caffey diseaseHP:0040283 - Occasional373
HP:0002093HP:0002093Respiratory insufficiency0COL1A1 CL E G H12772197OMIM:166210Osteogenesis imperfecta, type IIA.373
HP:0002093HP:0002093Respiratory insufficiency0COL1A2 CL E G H12782198OMIM:166210Osteogenesis imperfecta, type IIA.243
HP:0002093HP:0002093Respiratory insufficiency0COL25A1 CL E G H8457018603ORPHA:1143Neurogenic arthrogryposis multiplex congenita3
HP:0002093HP:0002093Respiratory insufficiency0COL2A1 CL E G H12802200ORPHA:93296Achondrogenesis type 2284
HP:0002093HP:0002093Respiratory insufficiency0COL3A1 CL E G H12812201ORPHA:286Vascular Ehlers-Danlos syndromeHP:0040282 - Frequent749
HP:0002093HP:0002093Respiratory insufficiency0COL6A1 CL E G H12912211OMIM:158810Bethlem myopathy 1442
HP:0002093HP:0002093Respiratory insufficiency0COL6A1 CL E G H12912211ORPHA:75840Congenital muscular dystrophy, Ullrich type442
HP:0002093HP:0002093Respiratory insufficiency0COL6A1 CL E G H12912211OMIM:254090Ullrich congenital muscular dystrophy 1.442
HP:0002093HP:0002093Respiratory insufficiency0COL6A2 CL E G H12922212OMIM:158810Bethlem myopathy 1478
HP:0002093HP:0002093Respiratory insufficiency0COL6A2 CL E G H12922212ORPHA:75840Congenital muscular dystrophy, Ullrich type478
HP:0002093HP:0002093Respiratory insufficiency0COL6A2 CL E G H12922212OMIM:254090Ullrich congenital muscular dystrophy 1.478
HP:0002093HP:0002093Respiratory insufficiency0COL6A3 CL E G H12932213OMIM:158810Bethlem myopathy 1702
HP:0002093HP:0002093Respiratory insufficiency0COL6A3 CL E G H12932213ORPHA:75840Congenital muscular dystrophy, Ullrich type702
HP:0002093HP:0002093Respiratory insufficiency0COL6A3 CL E G H12932213OMIM:254090Ullrich congenital muscular dystrophy 1.702
HP:0002093HP:0002093Respiratory insufficiency0COLQ CL E G H82922226OMIM:603034Myasthenic syndrome, congenital, 5.90
HP:0002093HP:0002093Respiratory insufficiency0COLQ CL E G H82922226ORPHA:98915Synaptic congenital myasthenic syndromesHP:0040282 - Frequent90
HP:0002093HP:0002093Respiratory insufficiency0COQ4 CL E G H5111719693OMIM:616276Coenzyme Q10 deficiency, primary, 7.HP:0003623 - Neonatal onset24
HP:0002093HP:0002093Respiratory insufficiency0COQ9 CL E G H5701725302OMIM:614654Coenzyme Q10 deficiency, primary, 5.44
HP:0002093HP:0002093Respiratory insufficiency0COX14 CL E G H8498728216OMIM:619053MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10; MC4DN104
HP:0002093HP:0002093Respiratory insufficiency0COX6A2 CL E G H13392279OMIM:619062MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 18; MC4DN18
HP:0002093HP:0002093Respiratory insufficiency0COX7B CL E G H13492291ORPHA:2556Microphthalmia with linear skin defects syndrome6
HP:0002093HP:0002093Respiratory insufficiency0CPOX CL E G H13712321ORPHA:79273Hereditary coproporphyriaHP:0040283 - Occasional72
HP:0002093HP:0002093Respiratory insufficiency0CPS1 CL E G H13732323ORPHA:147Carbamoyl-phosphate synthetase 1 deficiencyHP:0040281 - Very frequent124
HP:0002093HP:0002093Respiratory insufficiency0CPT2 CL E G H13762330ORPHA:228308Carnitine palmitoyl transferase II deficiency, neonatal form101
HP:0002093HP:0002093Respiratory insufficiency0CPT2 CL E G H13762330OMIM:600649Carnitine palmitoyltransferase II deficiency, infantile101
HP:0002093HP:0002093Respiratory insufficiency0CPT2 CL E G H13762330OMIM:608836Carnitine palmitoyltransferase II deficiency, lethal neonatal.101
HP:0002093HP:0002093Respiratory insufficiency0CRLF1 CL E G H92442364ORPHA:1545Crisponi syndromeHP:0040281 - Very frequent24
HP:0002093HP:0002093Respiratory insufficiency0CRYAB CL E G H14102389ORPHA:399058Alpha-B crystallin-related late-onset myopathy46
HP:0002093HP:0002093Respiratory insufficiency0CRYAB CL E G H14102389OMIM:608810Myopathy, myofibrillar, 2, mfm246
HP:0002093HP:0002093Respiratory insufficiency0CRYAB CL E G H14102389OMIM:613869Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related.46
HP:0002093HP:0002093Respiratory insufficiency0CSF2RA CL E G H14382435ORPHA:264675Hereditary pulmonary alveolar proteinosis15
HP:0002093HP:0002093Respiratory insufficiency0CSF2RB CL E G H14392436ORPHA:264675Hereditary pulmonary alveolar proteinosis17
HP:0002093HP:0002093Respiratory insufficiency0CSF2RB CL E G H14392436OMIM:614370SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5; SMDP517
HP:0002093HP:0002093Respiratory insufficiency0CSGALNACT1 CL E G H5579024290OMIM:618870SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0002093HP:0002093Respiratory insufficiency0CTLA4 CL E G H14932505ORPHA:900Granulomatosis with polyangiitisHP:0040282 - Frequent10
HP:0002093HP:0002093Respiratory insufficiency0CTSD CL E G H15092529OMIM:610127Ceroid lipofuscinosis, neuronal, 10.159
HP:0002093HP:0002093Respiratory insufficiency0CUL7 CL E G H982021024OMIM:2737503-M syndrome 1127
HP:0002093HP:0002093Respiratory insufficiency0CYP27A1 CL E G H15932605OMIM:213700Cerebrotendinous xanthomatosis.114
HP:0002093HP:0002093Respiratory insufficiency0DAG1 CL E G H16052666OMIM:616538MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9108
HP:0002093HP:0002093Respiratory insufficiency0DAO CL E G H16102671ORPHA:803Amyotrophic lateral sclerosis
HP:0002093HP:0002093Respiratory insufficiency0DCTN1 CL E G H16392711ORPHA:803Amyotrophic lateral sclerosis86
HP:0002093HP:0002093Respiratory insufficiency0DCTN1 CL E G H16392711OMIM:168605Perry syndrome86
HP:0002093HP:0002093Respiratory insufficiency0DDC CL E G H16442719OMIM:608643Aromatic L-amino acid decarboxylase deficiency43
HP:0002093HP:0002093Respiratory insufficiency0DES CL E G H16742770ORPHA:98909Desminopathy263
HP:0002093HP:0002093Respiratory insufficiency0DES CL E G H16742770OMIM:601419Myopathy, myofibrillar, 1263
HP:0002093HP:0002093Respiratory insufficiency0DLK1 CL E G H87882907ORPHA:254528Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion1
HP:0002093HP:0002093Respiratory insufficiency0DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0002093HP:0002093Respiratory insufficiency0DLL3 CL E G H106832909ORPHA:2311Autosomal recessive spondylocostal dysostosisHP:0040281 - Very frequent45
HP:0002093HP:0002093Respiratory insufficiency0DMD CL E G H17562928ORPHA:98896Duchenne muscular dystrophyHP:0040281 - Very frequent1496
HP:0002093HP:0002093Respiratory insufficiency0DMD CL E G H17562928OMIM:310200Duchenne muscular dystrophy.1496
HP:0002093HP:0002093Respiratory insufficiency0DMPK CL E G H17602933ORPHA:589821Congenital-onset Steinert myotonic dystrophy152
HP:0002093HP:0002093Respiratory insufficiency0DNAAF1 CL E G H12387230539ORPHA:244Primary ciliary dyskinesia116
HP:0002093HP:0002093Respiratory insufficiency0DNAAF11 CL E G H2363916725OMIM:614935Ciliary dyskinesia, primary, 19
HP:0002093HP:0002093Respiratory insufficiency0DNAAF11 CL E G H2363916725ORPHA:244Primary ciliary dyskinesia
HP:0002093HP:0002093Respiratory insufficiency0DNAAF2 CL E G H5517220188ORPHA:244Primary ciliary dyskinesia78
HP:0002093HP:0002093Respiratory insufficiency0DNAAF3 CL E G H35290930492ORPHA:244Primary ciliary dyskinesia63
HP:0002093HP:0002093Respiratory insufficiency0DNAAF4 CL E G H16158221493ORPHA:244Primary ciliary dyskinesia27
HP:0002093HP:0002093Respiratory insufficiency0DNAAF5 CL E G H5491926013OMIM:614874Ciliary dyskinesia, primary, 18.62
HP:0002093HP:0002093Respiratory insufficiency0DNAAF5 CL E G H5491926013ORPHA:244Primary ciliary dyskinesia62
HP:0002093HP:0002093Respiratory insufficiency0DNAAF6 CL E G H13921228570OMIM:300991Ciliary dyskinesia, primary, 36, X-linked
HP:0002093HP:0002093Respiratory insufficiency0DNAAF6 CL E G H13921228570ORPHA:244Primary ciliary dyskinesia
HP:0002093HP:0002093Respiratory insufficiency0DNAH1 CL E G H259812940ORPHA:244Primary ciliary dyskinesia21
HP:0002093HP:0002093Respiratory insufficiency0DNAH11 CL E G H87012942ORPHA:244Primary ciliary dyskinesia542
HP:0002093HP:0002093Respiratory insufficiency0DNAH5 CL E G H17672950OMIM:608644CILIARY DYSKINESIA, PRIMARY, 3; CILD3527
HP:0002093HP:0002093Respiratory insufficiency0DNAH5 CL E G H17672950ORPHA:244Primary ciliary dyskinesia527
HP:0002093HP:0002093Respiratory insufficiency0DNAH9 CL E G H17702953ORPHA:244Primary ciliary dyskinesia18
HP:0002093HP:0002093Respiratory insufficiency0DNAI1 CL E G H270192954ORPHA:244Primary ciliary dyskinesia73
HP:0002093HP:0002093Respiratory insufficiency0DNAI2 CL E G H6444618744OMIM:612444CILIARY DYSKINESIA, PRIMARY, 9; CILD9104
HP:0002093HP:0002093Respiratory insufficiency0DNAI2 CL E G H6444618744ORPHA:244Primary ciliary dyskinesia104
HP:0002093HP:0002093Respiratory insufficiency0DNAJB13 CL E G H37440730718OMIM:617091CILIARY DYSKINESIA, PRIMARY, 34; CILD342
HP:0002093HP:0002093Respiratory insufficiency0DNAJB13 CL E G H37440730718ORPHA:244Primary ciliary dyskinesia2
HP:0002093HP:0002093Respiratory insufficiency0DNAJC21 CL E G H13421827030OMIM:260400Shwachman-Diamond syndrome 15
HP:0002093HP:0002093Respiratory insufficiency0DNAL1 CL E G H8354423247ORPHA:244Primary ciliary dyskinesia167
HP:0002093HP:0002093Respiratory insufficiency0DNM1L CL E G H100592973OMIM:614388Encephalopathy due to defective mitochondrial and peroxisomal fission 194
HP:0002093HP:0002093Respiratory insufficiency0DNM2 CL E G H17852974ORPHA:169189Autosomal dominant centronuclear myopathy167
HP:0002093HP:0002093Respiratory insufficiency0DNM2 CL E G H17852974OMIM:615368Lethal congenital contracture syndrome 5.167
HP:0002093HP:0002093Respiratory insufficiency0DOK7 CL E G H28548926594ORPHA:994Fetal akinesia deformation sequenceHP:0040281 - Very frequent91
HP:0002093HP:0002093Respiratory insufficiency0DOK7 CL E G H28548926594OMIM:254300Myasthenia, limb-girdle, familial91
HP:0002093HP:0002093Respiratory insufficiency0DOK7 CL E G H28548926594ORPHA:98913Postsynaptic congenital myasthenic syndromes91
HP:0002093HP:0002093Respiratory insufficiency0DPAGT1 CL E G H17982995OMIM:608093Congenital disorder of glycosylation, type IjHP:0040283 - Occasional38
HP:0002093HP:0002093Respiratory insufficiency0DPM2 CL E G H88183006OMIM:615042Congenital disorder of glycosylation, type Iu26
HP:0002093HP:0002093Respiratory insufficiency0DPYD CL E G H18063012ORPHA:1675Dihydropyrimidine dehydrogenase deficiency144
HP:0002093HP:0002093Respiratory insufficiency0DRC1 CL E G H9274924245OMIM:615294CILIARY DYSKINESIA, PRIMARY, 21; CILD2144
HP:0002093HP:0002093Respiratory insufficiency0DRC1 CL E G H9274924245ORPHA:244Primary ciliary dyskinesia44
HP:0002093HP:0002093Respiratory insufficiency0DSP CL E G H18323052ORPHA:158687Lethal acantholytic erosive disorder747
HP:0002093HP:0002093Respiratory insufficiency0DST CL E G H6671090OMIM:614653Neuropathy, hereditary sensory and autonomic, type VI.108
HP:0002093HP:0002093Respiratory insufficiency0DTYMK CL E G H18413061OMIM:619847
HP:0002093HP:0002093Respiratory insufficiency0DYM CL E G H5480821317ORPHA:239Dyggve-Melchior-Clausen disease65
HP:0002093HP:0002093Respiratory insufficiency0DYNC2H1 CL E G H796592962ORPHA:474Jeune syndromeHP:0040282 - Frequent304
HP:0002093HP:0002093Respiratory insufficiency0DYNC2H1 CL E G H796592962ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040281 - Very frequent304
HP:0002093HP:0002093Respiratory insufficiency0DYNC2I1 CL E G H5511221862ORPHA:474Jeune syndromeHP:0040282 - Frequent
HP:0002093HP:0002093Respiratory insufficiency0DYNC2I1 CL E G H5511221862ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040281 - Very frequent
HP:0002093HP:0002093Respiratory insufficiency0DYNC2I2 CL E G H8989128296ORPHA:474Jeune syndromeHP:0040282 - Frequent
HP:0002093HP:0002093Respiratory insufficiency0DYNC2I2 CL E G H8989128296ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040281 - Very frequent
HP:0002093HP:0002093Respiratory insufficiency0DYNC2I2 CL E G H8989128296OMIM:615633Short-Rib thoracic dysplasia 11 with or without polydactyly.
HP:0002093HP:0002093Respiratory insufficiency0DYNC2LI1 CL E G H5162624595ORPHA:474Jeune syndromeHP:0040282 - Frequent7
HP:0002093HP:0002093Respiratory insufficiency0DZIP1L CL E G H19922126551ORPHA:731Autosomal recessive polycystic kidney disease4
HP:0002093HP:0002093Respiratory insufficiency0ECHS1 CL E G H18923151OMIM:616277Mitochondrial short-chain enoyl-coa hydratase 1 deficiency33
HP:0002093HP:0002093Respiratory insufficiency0EDN3 CL E G H19083178ORPHA:661Ondine syndromeHP:0040281 - Very frequent67
HP:0002093HP:0002093Respiratory insufficiency0EFEMP2 CL E G H300083219ORPHA:90349Autosomal recessive cutis laxa type 1HP:0040282 - Frequent45
HP:0002093HP:0002093Respiratory insufficiency0EGR2 CL E G H19593239OMIM:605253Neuropathy, congenital hypomyelinating, 1, autosomal recessive.58
HP:0002093HP:0002093Respiratory insufficiency0EMD CL E G H20103331ORPHA:98863X-linked Emery-Dreifuss muscular dystrophy107
HP:0002093HP:0002093Respiratory insufficiency0ENPP1 CL E G H51673356OMIM:208000Arterial calcification, generalized, of infancy, 1151
HP:0002093HP:0002093Respiratory insufficiency0EPHA4 CL E G H20433388ORPHA:803Amyotrophic lateral sclerosis4
HP:0002093HP:0002093Respiratory insufficiency0ERBB3 CL E G H20653431OMIM:607598Lethal congenital contracture syndrome 212
HP:0002093HP:0002093Respiratory insufficiency0ERBB4 CL E G H20663432ORPHA:803Amyotrophic lateral sclerosis15
HP:0002093HP:0002093Respiratory insufficiency0ERBB4 CL E G H20663432OMIM:615515Amyotrophic lateral sclerosis 1915
HP:0002093HP:0002093Respiratory insufficiency0ERF CL E G H20773444ORPHA:207Crouzon diseaseHP:0040283 - Occasional12
HP:0002093HP:0002093Respiratory insufficiency0ERGIC1 CL E G H5722229205ORPHA:1143Neurogenic arthrogryposis multiplex congenita
HP:0002093HP:0002093Respiratory insufficiency0EXOC6B CL E G H2323317085ORPHA:93359Spondyloepimetaphyseal dysplasia with joint laxity3
HP:0002093HP:0002093Respiratory insufficiency0EXOSC3 CL E G H5101017944ORPHA:2254Pontocerebellar hypoplasia type 138
HP:0002093HP:0002093Respiratory insufficiency0EXOSC3 CL E G H5101017944OMIM:614678Pontocerebellar hypoplasia, type 1B.38
HP:0002093HP:0002093Respiratory insufficiency0EXOSC8 CL E G H1134017035ORPHA:2254Pontocerebellar hypoplasia type 14
HP:0002093HP:0002093Respiratory insufficiency0EXOSC8 CL E G H1134017035OMIM:616081Pontocerebellar hypoplasia, type 1C.4
HP:0002093HP:0002093Respiratory insufficiency0EXOSC9 CL E G H53939137ORPHA:2254Pontocerebellar hypoplasia type 1
HP:0002093HP:0002093Respiratory insufficiency0EXOSC9 CL E G H53939137OMIM:618065Pontocerebellar hypoplasia, type 1D.
HP:0002093HP:0002093Respiratory insufficiency0FAM20C CL E G H5697522140ORPHA:1832Lethal osteosclerotic bone dysplasia35
HP:0002093HP:0002093Respiratory insufficiency0FARSB CL E G H1005617800OMIM:613658Rajab interstitial lung disease with brain calcifications
HP:0002093HP:0002093Respiratory insufficiency0FAT4 CL E G H7963323109ORPHA:2136Hennekam syndromeHP:0040283 - Occasional114
HP:0002093HP:0002093Respiratory insufficiency0FBLN5 CL E G H105163602ORPHA:90349Autosomal recessive cutis laxa type 1HP:0040282 - Frequent63
HP:0002093HP:0002093Respiratory insufficiency0FBN1 CL E G H22003603OMIM:614185GELEOPHYSIC DYSPLASIA 2; GPHYSD21361
HP:0002093HP:0002093Respiratory insufficiency0FBN1 CL E G H22003603ORPHA:284979Neonatal Marfan syndrome1361
HP:0002093HP:0002093Respiratory insufficiency0FCSK CL E G H19725829500OMIM:618324Congenital disorder of glycosylation with defective fucosylation 2.
HP:0002093HP:0002093Respiratory insufficiency0FGFR1 CL E G H22603688ORPHA:2117Hartsfield syndromeHP:0040281 - Very frequent172
HP:0002093HP:0002093Respiratory insufficiency0FGFR2 CL E G H22633689ORPHA:87Apert syndromeHP:0040283 - Occasional175
HP:0002093HP:0002093Respiratory insufficiency0FGFR2 CL E G H22633689ORPHA:207Crouzon diseaseHP:0040283 - Occasional175
HP:0002093HP:0002093Respiratory insufficiency0FGFR3 CL E G H22613690ORPHA:93262Crouzon syndrome-acanthosis nigricans syndromeHP:0040283 - Occasional145
HP:0002093HP:0002093Respiratory insufficiency0FGFR3 CL E G H22613690ORPHA:1860Thanatophoric dysplasia type 1HP:0040281 - Very frequent145
HP:0002093HP:0002093Respiratory insufficiency0FGFR3 CL E G H22613690ORPHA:93274Thanatophoric dysplasia type 2HP:0040281 - Very frequent145
HP:0002093HP:0002093Respiratory insufficiency0FGFR3 CL E G H22613690OMIM:187600Thanatophoric dysplasia, type I.145
HP:0002093HP:0002093Respiratory insufficiency0FGFR3 CL E G H22613690OMIM:187601Thanatophoric dysplasia, type II.145
HP:0002093HP:0002093Respiratory insufficiency0FHL1 CL E G H22733702OMIM:300718Myopathy, reducing body, X-linked, childhood-onset68
HP:0002093HP:0002093Respiratory insufficiency0FHL1 CL E G H22733702OMIM:300717Myopathy, reducing body, X-linked, early-onset, severe.68
HP:0002093HP:0002093Respiratory insufficiency0FHL1 CL E G H22733702OMIM:300696Myopathy, X-linked, with postural muscle atrophy.68
HP:0002093HP:0002093Respiratory insufficiency0FHL1 CL E G H22733702ORPHA:98863X-linked Emery-Dreifuss muscular dystrophy68
HP:0002093HP:0002093Respiratory insufficiency0FIG4 CL E G H989616873ORPHA:803Amyotrophic lateral sclerosis111
HP:0002093HP:0002093Respiratory insufficiency0FKBP10 CL E G H6068118169ORPHA:2771Bruck syndromeHP:0040282 - Frequent61
HP:0002093HP:0002093Respiratory insufficiency0FKRP CL E G H7914717997ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040283 - Occasional157
HP:0002093HP:0002093Respiratory insufficiency0FKRP CL E G H7914717997OMIM:613153MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5.157
HP:0002093HP:0002093Respiratory insufficiency0FKTN CL E G H22183622OMIM:253800MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4.184
HP:0002093HP:0002093Respiratory insufficiency0FLAD1 CL E G H8030824671OMIM:255100Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency.18
HP:0002093HP:0002093Respiratory insufficiency0FLNA CL E G H23163754ORPHA:2484Melnick-Needles syndromeHP:0040283 - Occasional493
HP:0002093HP:0002093Respiratory insufficiency0FLNA CL E G H23163754OMIM:304120Otopalatodigital syndrome, type II.493
HP:0002093HP:0002093Respiratory insufficiency0FLNB CL E G H23173755ORPHA:56305Atelosteogenesis type IIIHP:0040282 - Frequent233
HP:0002093HP:0002093Respiratory insufficiency0FLNB CL E G H23173755ORPHA:503Larsen syndromeHP:0040283 - Occasional233
HP:0002093HP:0002093Respiratory insufficiency0FLNC CL E G H23183756OMIM:609524Filaminopathy, autosomal dominant.197
HP:0002093HP:0002093Respiratory insufficiency0FOXF1 CL E G H22943809OMIM:265380Alveolar capillary dysplasia with misalignment of pulmonary veins61
HP:0002093HP:0002093Respiratory insufficiency0FOXI1 CL E G H22993815ORPHA:705Pendred syndromeHP:0040283 - Occasional33
HP:0002093HP:0002093Respiratory insufficiency0FOXJ1 CL E G H23023816OMIM:618699CILIARY DYSKINESIA, PRIMARY, 43; CILD43
HP:0002093HP:0002093Respiratory insufficiency0FOXJ1 CL E G H23023816ORPHA:244Primary ciliary dyskinesia
HP:0002093HP:0002093Respiratory insufficiency0FOXRED1 CL E G H5557226927ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent61
HP:0002093HP:0002093Respiratory insufficiency0FOXRED1 CL E G H5557226927OMIM:618241Mitochondrial complex I deficiency, nuclear type 19.61
HP:0002093HP:0002093Respiratory insufficiency0FUS CL E G H25214010ORPHA:803Amyotrophic lateral sclerosis105
HP:0002093HP:0002093Respiratory insufficiency0FUT8 CL E G H25304019OMIM:618005Congenital disorder of glycosylation with defective fucosylation 1.3
HP:0002093HP:0002093Respiratory insufficiency0G6PC3 CL E G H9257924861OMIM:612541Neutropenia, severe congenital, 4, autosomal recessive.37
HP:0002093HP:0002093Respiratory insufficiency0GAA CL E G H25484065ORPHA:308552Glycogen storage disease due to acid maltase deficiency, infantile onsetHP:0040282 - Frequent407
HP:0002093HP:0002093Respiratory insufficiency0GAA CL E G H25484065OMIM:232300Glycogen storage disease II.407
HP:0002093HP:0002093Respiratory insufficiency0GALC CL E G H25814115ORPHA:206436Infantile Krabbe disease160
HP:0002093HP:0002093Respiratory insufficiency0GALK1 CL E G H25844118ORPHA:79237Galactokinase deficiency23
HP:0002093HP:0002093Respiratory insufficiency0GARS1 CL E G H26174162OMIM:619042SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE; SMAJI
HP:0002093HP:0002093Respiratory insufficiency0GAS2L2 CL E G H24617624846ORPHA:244Primary ciliary dyskinesia1
HP:0002093HP:0002093Respiratory insufficiency0GAS8 CL E G H26224166ORPHA:244Primary ciliary dyskinesia9
HP:0002093HP:0002093Respiratory insufficiency0GATA2 CL E G H26244171ORPHA:3226Deafness-lymphedema-leukemia syndrome137
HP:0002093HP:0002093Respiratory insufficiency0GDNF CL E G H26684232ORPHA:661Ondine syndromeHP:0040281 - Very frequent59
HP:0002093HP:0002093Respiratory insufficiency0GFPT1 CL E G H26734241OMIM:608931Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency128
HP:0002093HP:0002093Respiratory insufficiency0GFRA1 CL E G H26744243OMIM:6198871
HP:0002093HP:0002093Respiratory insufficiency0GGPS1 CL E G H94534249OMIM:619518MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO
HP:0002093HP:0002093Respiratory insufficiency0GIPC1 CL E G H107551226ORPHA:98897Oculopharyngodistal myopathy
HP:0002093HP:0002093Respiratory insufficiency0GLA CL E G H27174296ORPHA:324Fabry diseaseHP:0040283 - Occasional291
HP:0002093HP:0002093Respiratory insufficiency0GLE1 CL E G H27334315ORPHA:803Amyotrophic lateral sclerosis45
HP:0002093HP:0002093Respiratory insufficiency0GLE1 CL E G H27334315OMIM:611890Congenital arthrogryposis with anterior horn cell disease45
HP:0002093HP:0002093Respiratory insufficiency0GLI3 CL E G H27374319ORPHA:672Pallister-Hall syndromeHP:0040284 - Very rare270
HP:0002093HP:0002093Respiratory insufficiency0GLS CL E G H27444331OMIM:618328Epileptic encephalopathy, early infantile, 71.
HP:0002093HP:0002093Respiratory insufficiency0GLT8D1 CL E G H5583024870ORPHA:803Amyotrophic lateral sclerosis
HP:0002093HP:0002093Respiratory insufficiency0GLUL CL E G H27524341OMIM:610015GLUTAMINE DEFICIENCY, CONGENITAL98
HP:0002093HP:0002093Respiratory insufficiency0GLYCTK CL E G H13215824247OMIM:220120D-GLYCERIC ACIDURIA6
HP:0002093HP:0002093Respiratory insufficiency0GMNN CL E G H5105317493ORPHA:2554Ear-patella-short stature syndrome3
HP:0002093HP:0002093Respiratory insufficiency0GMPPA CL E G H2992622923OMIM:615510Alacrima, achalasia, and mental retardation syndrome24
HP:0002093HP:0002093Respiratory insufficiency0GMPPA CL E G H2992622923ORPHA:869Triple A syndromeHP:0040283 - Occasional24
HP:0002093HP:0002093Respiratory insufficiency0GMPPB CL E G H2992522932ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040283 - Occasional34
HP:0002093HP:0002093Respiratory insufficiency0GMPPB CL E G H2992522932ORPHA:363623GMPPB-related limb-girdle muscular dystrophy R19HP:0040283 - Occasional34
HP:0002093HP:0002093Respiratory insufficiency0GMPPB CL E G H2992522932OMIM:615352Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14HP:0040283 - Occasional34
HP:0002093HP:0002093Respiratory insufficiency0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0002093HP:0002093Respiratory insufficiency0GNPTAB CL E G H7915829670ORPHA:576Mucolipidosis type II240
HP:0002093HP:0002093Respiratory insufficiency0GPC3 CL E G H27194451OMIM:312870Simpson-golabi-behmel syndrome, type 173
HP:0002093HP:0002093Respiratory insufficiency0GPC4 CL E G H22394452OMIM:312870Simpson-golabi-behmel syndrome, type 1
HP:0002093HP:0002093Respiratory insufficiency0GPX4 CL E G H28794556ORPHA:93317Spondylometaphyseal dysplasia, Sedaghatian typeHP:0040282 - Frequent3
HP:0002093HP:0002093Respiratory insufficiency0GRM7 CL E G H29174599OMIM:618922NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA5
HP:0002093HP:0002093Respiratory insufficiency0GTPBP3 CL E G H8470514880ORPHA:444013Combined oxidative phosphorylation defect type 2330
HP:0002093HP:0002093Respiratory insufficiency0HACD1 CL E G H92009639OMIM:6199672
HP:0002093HP:0002093Respiratory insufficiency0HACD1 CL E G H92009639ORPHA:2020Congenital fiber-type disproportion myopathy2
HP:0002093HP:0002093Respiratory insufficiency0HADHA CL E G H30304801ORPHA:746Mitochondrial trifunctional protein deficiencyHP:0040283 - Occasional99
HP:0002093HP:0002093Respiratory insufficiency0HADHA CL E G H30304801OMIM:609015Mitochondrial trifunctional protein deficiency.99
HP:0002093HP:0002093Respiratory insufficiency0HADHB CL E G H30324803ORPHA:746Mitochondrial trifunctional protein deficiencyHP:0040283 - Occasional60
HP:0002093HP:0002093Respiratory insufficiency0HADHB CL E G H30324803OMIM:609015Mitochondrial trifunctional protein deficiency.60
HP:0002093HP:0002093Respiratory insufficiency0HCCS CL E G H30524837ORPHA:2556Microphthalmia with linear skin defects syndrome11
HP:0002093HP:0002093Respiratory insufficiency0HES7 CL E G H8466715977ORPHA:2311Autosomal recessive spondylocostal dysostosisHP:0040281 - Very frequent10
HP:0002093HP:0002093Respiratory insufficiency0HIBCH CL E G H262754908ORPHA:88639Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiencyHP:0040283 - Occasional32
HP:0002093HP:0002093Respiratory insufficiency0HLA-B CL E G H31064932ORPHA:29207Reactive arthritisHP:0040283 - Occasional4
HP:0002093HP:0002093Respiratory insufficiency0HLA-DPA1 CL E G H31134938ORPHA:900Granulomatosis with polyangiitisHP:0040282 - Frequent
HP:0002093HP:0002093Respiratory insufficiency0HLA-DPB1 CL E G H31154940ORPHA:133Chronic beryllium diseaseHP:0040282 - Frequent1
HP:0002093HP:0002093Respiratory insufficiency0HLA-DPB1 CL E G H31154940ORPHA:900Granulomatosis with polyangiitisHP:0040282 - Frequent1
HP:0002093HP:0002093Respiratory insufficiency0HMBS CL E G H31454982ORPHA:79276Acute intermittent porphyriaHP:0040283 - Occasional81
HP:0002093HP:0002093Respiratory insufficiency0HNRNPA1 CL E G H31785031ORPHA:803Amyotrophic lateral sclerosis31
HP:0002093HP:0002093Respiratory insufficiency0HPDL CL E G H8484228242OMIM:619026NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0002093HP:0002093Respiratory insufficiency0HRAS CL E G H32655173OMIM:218040Costello syndrome.113
HP:0002093HP:0002093Respiratory insufficiency0HSD3B2 CL E G H32845218ORPHA:90791Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency34
HP:0002093HP:0002093Respiratory insufficiency0HSPG2 CL E G H33395273ORPHA:1865Dyssegmental dysplasia, Silverman-Handmaker typeHP:0040283 - Occasional345
HP:0002093HP:0002093Respiratory insufficiency0HSPG2 CL E G H33395273ORPHA:800Schwartz-Jampel syndromeHP:0040283 - Occasional345
HP:0002093HP:0002093Respiratory insufficiency0HTRA2 CL E G H2742914348OMIM:6172483-methylglutaconic aciduria, type VIII39
HP:0002093HP:0002093Respiratory insufficiency0HYDIN CL E G H5476819368OMIM:608647Ciliary dyskinesia, primary, 521
HP:0002093HP:0002093Respiratory insufficiency0HYDIN CL E G H5476819368ORPHA:244Primary ciliary dyskinesia21
HP:0002093HP:0002093Respiratory insufficiency0HYMAI CL E G H570615326ORPHA:96191Paternal uniparental disomy of chromosome 6
HP:0002093HP:0002093Respiratory insufficiency0IBA57 CL E G H20020527302OMIM:615330Multiple mitochondrial dysfunctions syndrome 3.16
HP:0002093HP:0002093Respiratory insufficiency0IFIH1 CL E G H6413518873OMIM:619773IMMUNODEFICIENCY 95; IMD9528
HP:0002093HP:0002093Respiratory insufficiency0IFNG CL E G H34585438ORPHA:805Tuberous sclerosis complex23
HP:0002093HP:0002093Respiratory insufficiency0IFT140 CL E G H974229077ORPHA:474Jeune syndromeHP:0040282 - Frequent148
HP:0002093HP:0002093Respiratory insufficiency0IFT172 CL E G H2616030391ORPHA:474Jeune syndromeHP:0040282 - Frequent48
HP:0002093HP:0002093Respiratory insufficiency0IFT80 CL E G H5756029262ORPHA:474Jeune syndromeHP:0040282 - Frequent65
HP:0002093HP:0002093Respiratory insufficiency0IFT80 CL E G H5756029262ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040281 - Very frequent65
HP:0002093HP:0002093Respiratory insufficiency0IFT81 CL E G H2898114313OMIM:617895Short-Rib thoracic dysplasia 19 with or without polydactyly2
HP:0002093HP:0002093Respiratory insufficiency0IGHMBP2 CL E G H35085542OMIM:604320Spinal muscular atrophy, distal, autosomal recessive, 1209
HP:0002093HP:0002093Respiratory insufficiency0INPP5K CL E G H5176333882OMIM:617404Muscular dystrophy, congenital, with cataracts and intellectual disabilityHP:0040283 - Occasional7
HP:0002093HP:0002093Respiratory insufficiency0INPPL1 CL E G H36366080OMIM:258480OPSISMODYSPLASIA18
HP:0002093HP:0002093Respiratory insufficiency0INPPL1 CL E G H36366080ORPHA:2746OpsismodysplasiaHP:0040281 - Very frequent18
HP:0002093HP:0002093Respiratory insufficiency0INVS CL E G H2713017870OMIM:602088Nephronophthisis 2.106
HP:0002093HP:0002093Respiratory insufficiency0IRF4 CL E G H36626119ORPHA:3452Whipple diseaseHP:0040283 - Occasional1
HP:0002093HP:0002093Respiratory insufficiency0ITGA3 CL E G H36756139OMIM:614748Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital6
HP:0002093HP:0002093Respiratory insufficiency0ITGA7 CL E G H36796143ORPHA:2020Congenital fiber-type disproportion myopathy127
HP:0002093HP:0002093Respiratory insufficiency0JAK2 CL E G H37176192ORPHA:729Polycythemia veraHP:0040282 - Frequent57
HP:0002093HP:0002093Respiratory insufficiency0JUP CL E G H37286207ORPHA:158687Lethal acantholytic erosive disorder222
HP:0002093HP:0002093Respiratory insufficiency0KAT6A CL E G H799413013OMIM:616268Arboleda-Tham syndrome34
HP:0002093HP:0002093Respiratory insufficiency0KAT6A CL E G H799413013ORPHA:457193Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome34
HP:0002093HP:0002093Respiratory insufficiency0KBTBD13 CL E G H39059437227ORPHA:171439Childhood-onset nemaline myopathy80
HP:0002093HP:0002093Respiratory insufficiency0KCNJ10 CL E G H37666256ORPHA:705Pendred syndromeHP:0040283 - Occasional121
HP:0002093HP:0002093Respiratory insufficiency0KCNJ6 CL E G H37636267ORPHA:435628Keppen-Lubinsky syndromeHP:0040282 - Frequent3
HP:0002093HP:0002093Respiratory insufficiency0KIAA0753 CL E G H985129110OMIM:619479SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD214
HP:0002093HP:0002093Respiratory insufficiency0KIF22 CL E G H38356391ORPHA:93360Spondyloepimetaphyseal dysplasia with multiple dislocations14
HP:0002093HP:0002093Respiratory insufficiency0KIT CL E G H38156342ORPHA:280785Bullous diffuse cutaneous mastocytosis327
HP:0002093HP:0002093Respiratory insufficiency0KLHL40 CL E G H13137730372OMIM:615348NEMALINE MYOPATHY 8; NEM828
HP:0002093HP:0002093Respiratory insufficiency0KLHL40 CL E G H13137730372ORPHA:171430Severe congenital nemaline myopathy28
HP:0002093HP:0002093Respiratory insufficiency0KLHL41 CL E G H1032416905ORPHA:171439Childhood-onset nemaline myopathy13
HP:0002093HP:0002093Respiratory insufficiency0KLHL41 CL E G H1032416905ORPHA:171433Intermediate nemaline myopathy13
HP:0002093HP:0002093Respiratory insufficiency0KLHL41 CL E G H1032416905OMIM:615731Nemaline myopathy 9HP:0040283 - Occasional13
HP:0002093HP:0002093Respiratory insufficiency0KLHL41 CL E G H1032416905ORPHA:171430Severe congenital nemaline myopathy13
HP:0002093HP:0002093Respiratory insufficiency0KLHL41 CL E G H1032416905ORPHA:171436Typical nemaline myopathyHP:0040282 - Frequent13
HP:0002093HP:0002093Respiratory insufficiency0KNSTRN CL E G H9041730767ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomalies1
HP:0002093HP:0002093Respiratory insufficiency0LAMA2 CL E G H39086482ORPHA:258Laminin subunit alpha 2-related congenital muscular dystrophyHP:0040284 - Very rare411
HP:0002093HP:0002093Respiratory insufficiency0LAMA2 CL E G H39086482OMIM:607855Muscular dystrophy, congenital, merosin deficient or partially deficient411
HP:0002093HP:0002093Respiratory insufficiency0LAMA3 CL E G H39096483ORPHA:79404Severe generalized junctional epidermolysis bullosa116
HP:0002093HP:0002093Respiratory insufficiency0LAMB2 CL E G H39136487ORPHA:98915Synaptic congenital myasthenic syndromesHP:0040282 - Frequent92
HP:0002093HP:0002093Respiratory insufficiency0LAMB3 CL E G H39146490ORPHA:79404Severe generalized junctional epidermolysis bullosa167
HP:0002093HP:0002093Respiratory insufficiency0LAMC2 CL E G H39186493ORPHA:79404Severe generalized junctional epidermolysis bullosa135
HP:0002093HP:0002093Respiratory insufficiency0LAMP2 CL E G H39206501ORPHA:34587Glycogen storage disease due to LAMP-2 deficiency211
HP:0002093HP:0002093Respiratory insufficiency0LARGE1 CL E G H92156511ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040283 - Occasional136
HP:0002093HP:0002093Respiratory insufficiency0LARS2 CL E G H2339517095OMIM:617021Hydrops, lactic acidosis, and sideroblastic anemia.54
HP:0002093HP:0002093Respiratory insufficiency0LBR CL E G H39306518ORPHA:779Reynolds syndromeHP:0040283 - Occasional70
HP:0002093HP:0002093Respiratory insufficiency0LBX1 CL E G H1066016960OMIM:619483CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 3; CCHS3
HP:0002093HP:0002093Respiratory insufficiency0LFNG CL E G H39556560ORPHA:2311Autosomal recessive spondylocostal dysostosisHP:0040281 - Very frequent13
HP:0002093HP:0002093Respiratory insufficiency0LIAS CL E G H1101916429OMIM:614462Hyperglycinemia, lactic acidosis, and seizures.31
HP:0002093HP:0002093Respiratory insufficiency0LIFR CL E G H39776597OMIM:601559Stuve-Wiedemann syndrome.144
HP:0002093HP:0002093Respiratory insufficiency0LIG4 CL E G H39816601ORPHA:235Dubowitz syndromeHP:0040282 - Frequent88
HP:0002093HP:0002093Respiratory insufficiency0LIPT2 CL E G H38778737216OMIM:617668Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities.2
HP:0002093HP:0002093Respiratory insufficiency0LMNA CL E G H40006636ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophy645
HP:0002093HP:0002093Respiratory insufficiency0LMNA CL E G H40006636ORPHA:157973Congenital muscular dystrophy due to LMNA mutationHP:0040282 - Frequent645
HP:0002093HP:0002093Respiratory insufficiency0LMNA CL E G H40006636OMIM:613205Muscular dystrophy, congenital, lmna-related645
HP:0002093HP:0002093Respiratory insufficiency0LMOD3 CL E G H562036649OMIM:616165Nemaline myopathy 1011
HP:0002093HP:0002093Respiratory insufficiency0LMOD3 CL E G H562036649ORPHA:171430Severe congenital nemaline myopathy11
HP:0002093HP:0002093Respiratory insufficiency0LMOD3 CL E G H562036649ORPHA:171436Typical nemaline myopathyHP:0040282 - Frequent11
HP:0002093HP:0002093Respiratory insufficiency0LONP1 CL E G H93619479ORPHA:79243Pyruvate dehydrogenase E1-alpha deficiency8
HP:0002093HP:0002093Respiratory insufficiency0LRP12 CL E G H2996731708OMIM:164310Oculopharyngodistal myopathy 1
HP:0002093HP:0002093Respiratory insufficiency0LRP4 CL E G H40386696ORPHA:98913Postsynaptic congenital myasthenic syndromes124
HP:0002093HP:0002093Respiratory insufficiency0LRP5 CL E G H40416697ORPHA:2924Isolated polycystic liver diseaseHP:0040283 - Occasional125
HP:0002093HP:0002093Respiratory insufficiency0LRPPRC CL E G H1012815714ORPHA:70472Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type191
HP:0002093HP:0002093Respiratory insufficiency0LRRC56 CL E G H11539925430ORPHA:244Primary ciliary dyskinesia
HP:0002093HP:0002093Respiratory insufficiency0LTBP1 CL E G H40526714ORPHA:90349Autosomal recessive cutis laxa type 1HP:0040282 - Frequent
HP:0002093HP:0002093Respiratory insufficiency0LTBP3 CL E G H40546716OMIM:617809Geleophysic dysplasia 312
HP:0002093HP:0002093Respiratory insufficiency0LTBP4 CL E G H84256717ORPHA:98896Duchenne muscular dystrophyHP:0040281 - Very frequent92
HP:0002093HP:0002093Respiratory insufficiency0LYRM7 CL E G H9062428072OMIM:615838Mitochondrial complex III deficiency, nuclear type 810
HP:0002093HP:0002093Respiratory insufficiency0MADD CL E G H85676766OMIM:619004DEEAH SYNDROME; DEEAH5
HP:0002093HP:0002093Respiratory insufficiency0MADD CL E G H85676766OMIM:619005NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH5
HP:0002093HP:0002093Respiratory insufficiency0MAMLD1 CL E G H100462568ORPHA:456328X-linked myotubular myopathy-abnormal genitalia syndromeHP:0040282 - Frequent5
HP:0002093HP:0002093Respiratory insufficiency0MAP3K20 CL E G H5177617797ORPHA:2020Congenital fiber-type disproportion myopathy2
HP:0002093HP:0002093Respiratory insufficiency0MARS1 CL E G H41416898OMIM:615486Interstitial lung and liver disease.
HP:0002093HP:0002093Respiratory insufficiency0MATR3 CL E G H97826912ORPHA:803Amyotrophic lateral sclerosis80
HP:0002093HP:0002093Respiratory insufficiency0MATR3 CL E G H97826912OMIM:606070Amyotrophic lateral sclerosis 2180
HP:0002093HP:0002093Respiratory insufficiency0MATR3 CL E G H97826912ORPHA:600Vocal cord and pharyngeal distal myopathy80
HP:0002093HP:0002093Respiratory insufficiency0MCCC1 CL E G H569226936ORPHA:63-methylcrotonyl-CoA carboxylase deficiencyHP:0040283 - Occasional81
HP:0002093HP:0002093Respiratory insufficiency0MCCC2 CL E G H640876937ORPHA:63-methylcrotonyl-CoA carboxylase deficiencyHP:0040283 - Occasional77
HP:0002093HP:0002093Respiratory insufficiency0MCIDAS CL E G H34564340050OMIM:618695CILIARY DYSKINESIA, PRIMARY, 42; CILD4213
HP:0002093HP:0002093Respiratory insufficiency0MCIDAS CL E G H34564340050ORPHA:244Primary ciliary dyskinesia13
HP:0002093HP:0002093Respiratory insufficiency0MCM4 CL E G H41736947OMIM:609981Immunodeficiency 54HP:0040283 - Occasional69
HP:0002093HP:0002093Respiratory insufficiency0MDFIC CL E G H2996928870OMIM:620014
HP:0002093HP:0002093Respiratory insufficiency0MECP2 CL E G H42046990OMIM:300673Encephalopathy, neonatal severe, due to mecp2 mutations.950
HP:0002093HP:0002093Respiratory insufficiency0MEG3 CL E G H5538414575ORPHA:254528Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion1
HP:0002093HP:0002093Respiratory insufficiency0MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0002093HP:0002093Respiratory insufficiency0MEGF10 CL E G H8446629634OMIM:614399Myopathy, areflexia, respiratory distress, and dysphagia, early-onset.158
HP:0002093HP:0002093Respiratory insufficiency0MESP2 CL E G H14587329659ORPHA:2311Autosomal recessive spondylocostal dysostosisHP:0040281 - Very frequent45
HP:0002093HP:0002093Respiratory insufficiency0MFN2 CL E G H992716877OMIM:617087Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B203
HP:0002093HP:0002093Respiratory insufficiency0MGME1 CL E G H9266716205OMIM:615084Mitochondrial DNA depletion syndrome 11.11
HP:0002093HP:0002093Respiratory insufficiency0MGME1 CL E G H9266716205ORPHA:352447Progressive external ophthalmoplegia-myopathy-emaciation syndrome11
HP:0002093HP:0002093Respiratory insufficiency0MICOS13 CL E G H12598833702OMIM:618329COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0002093HP:0002093Respiratory insufficiency0MLYCD CL E G H234177150OMIM:248360Malonyl-CoA decarboxylase deficiency80
HP:0002093HP:0002093Respiratory insufficiency0MORC2 CL E G H2288023573ORPHA:466768Autosomal dominant Charcot-Marie-Tooth disease type 2Z8
HP:0002093HP:0002093Respiratory insufficiency0MPL CL E G H43527217ORPHA:729Polycythemia veraHP:0040282 - Frequent97
HP:0002093HP:0002093Respiratory insufficiency0MPZ CL E G H43597225OMIM:618184Neuropathy, congenital hypomyelinating, 2134
HP:0002093HP:0002093Respiratory insufficiency0MRPS14 CL E G H6393114049OMIM:618378Combined oxidative phosphorylation deficiency 38.
HP:0002093HP:0002093Respiratory insufficiency0MTM1 CL E G H45347448OMIM:310400Myopathy, centronuclear, X-linked185
HP:0002093HP:0002093Respiratory insufficiency0MTM1 CL E G H45347448ORPHA:596X-linked centronuclear myopathy185
HP:0002093HP:0002093Respiratory insufficiency0MTM1 CL E G H45347448ORPHA:456328X-linked myotubular myopathy-abnormal genitalia syndromeHP:0040282 - Frequent185
HP:0002093HP:0002093Respiratory insufficiency0MTMR14 CL E G H6441926190ORPHA:169189Autosomal dominant centronuclear myopathy7
HP:0002093HP:0002093Respiratory insufficiency0MTTP CL E G H45477467ORPHA:14Abetalipoproteinemia81
HP:0002093HP:0002093Respiratory insufficiency0MUSK CL E G H45937525ORPHA:994Fetal akinesia deformation sequenceHP:0040281 - Very frequent72
HP:0002093HP:0002093Respiratory insufficiency0MUSK CL E G H45937525OMIM:616325Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency.72
HP:0002093HP:0002093Respiratory insufficiency0MUSK CL E G H45937525ORPHA:98913Postsynaptic congenital myasthenic syndromes72
HP:0002093HP:0002093Respiratory insufficiency0MYBPC1 CL E G H46047549OMIM:614915Lethal congenital contracture syndrome 4.66
HP:0002093HP:0002093Respiratory insufficiency0MYD88 CL E G H46157562ORPHA:33226Waldenström macroglobulinemiaHP:0040282 - Frequent9
HP:0002093HP:0002093Respiratory insufficiency0MYF6 CL E G H46187566ORPHA:169189Autosomal dominant centronuclear myopathy19
HP:0002093HP:0002093Respiratory insufficiency0MYH11 CL E G H46297569OMIM:619351MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2; MMIHS2418
HP:0002093HP:0002093Respiratory insufficiency0MYH3 CL E G H46217573ORPHA:2990Autosomal recessive multiple pterygium syndrome166
HP:0002093HP:0002093Respiratory insufficiency0MYH7 CL E G H46257577ORPHA:324604Classic multiminicore myopathy1269
HP:0002093HP:0002093Respiratory insufficiency0MYH7 CL E G H46257577ORPHA:1880Ebstein malformation of the tricuspid valveHP:0040281 - Very frequent1269
HP:0002093HP:0002093Respiratory insufficiency0MYH7 CL E G H46257577OMIM:255310Myopathy, congenital, with fiber-type disproportion.1269
HP:0002093HP:0002093Respiratory insufficiency0MYH7 CL E G H46257577OMIM:255160Myopathy, myosin storage, autosomal recessive.1269
HP:0002093HP:0002093Respiratory insufficiency0MYL1 CL E G H46327582OMIM:618414Myopathy, congenital, with fast-twitch (type ii) fiber atrophy
HP:0002093HP:0002093Respiratory insufficiency0MYL2 CL E G H46337583ORPHA:2020Congenital fiber-type disproportion myopathy131
HP:0002093HP:0002093Respiratory insufficiency0MYL2 CL E G H46337583OMIM:619424MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12131
HP:0002093HP:0002093Respiratory insufficiency0MYMK CL E G H38982733778OMIM:254940Carey-Fineman-Ziter syndrome.5
HP:0002093HP:0002093Respiratory insufficiency0MYO1H CL E G H28344613879ORPHA:661Ondine syndromeHP:0040281 - Very frequent
HP:0002093HP:0002093Respiratory insufficiency0MYO9A CL E G H46497608OMIM:618198Myasthenic syndrome, congenital, 24, presynaptic.
HP:0002093HP:0002093Respiratory insufficiency0MYO9A CL E G H46497608ORPHA:98914Presynaptic congenital myasthenic syndromes
HP:0002093HP:0002093Respiratory insufficiency0MYOD1 CL E G H46547611ORPHA:994Fetal akinesia deformation sequenceHP:0040281 - Very frequent
HP:0002093HP:0002093Respiratory insufficiency0MYOD1 CL E G H46547611OMIM:618975MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0002093HP:0002093Respiratory insufficiency0MYOT CL E G H949912399ORPHA:266Autosomal dominant limb-girdle muscular dystrophy type 1AHP:0040283 - Occasional75
HP:0002093HP:0002093Respiratory insufficiency0MYPN CL E G H8466523246ORPHA:171439Childhood-onset nemaline myopathy217
HP:0002093HP:0002093Respiratory insufficiency0NALCN CL E G H25923219082OMIM:616266Congenital contractures of the limbs and face, hypotonia, and developmental delay.48
HP:0002093HP:0002093Respiratory insufficiency0NAXE CL E G H12824018453OMIM:617186Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 19
HP:0002093HP:0002093Respiratory insufficiency0NBN CL E G H46837652ORPHA:647Nijmegen breakage syndrome706
HP:0002093HP:0002093Respiratory insufficiency0ND1 CL E G H45357455ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent
HP:0002093HP:0002093Respiratory insufficiency0ND2 CL E G H45367456ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent
HP:0002093HP:0002093Respiratory insufficiency0ND3 CL E G H45377458ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent
HP:0002093HP:0002093Respiratory insufficiency0NDUFA1 CL E G H46947683ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent7
HP:0002093HP:0002093Respiratory insufficiency0NDUFA10 CL E G H47057684OMIM:618243Mitochondrial complex I deficiency, nuclear type 22.91
HP:0002093HP:0002093Respiratory insufficiency0NDUFA11 CL E G H12632820371ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent32
HP:0002093HP:0002093Respiratory insufficiency0NDUFA6 CL E G H47007690ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent1
HP:0002093HP:0002093Respiratory insufficiency0NDUFA6 CL E G H47007690OMIM:618253Mitochondrial complex I deficiency, nuclear type 33.1
HP:0002093HP:0002093Respiratory insufficiency0NDUFA9 CL E G H47047693OMIM:618247Mitochondrial complex I deficiency, nuclear type 26.27
HP:0002093HP:0002093Respiratory insufficiency0NDUFAF1 CL E G H5110318828ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent40
HP:0002093HP:0002093Respiratory insufficiency0NDUFAF2 CL E G H9194228086ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent26
HP:0002093HP:0002093Respiratory insufficiency0NDUFAF2 CL E G H9194228086OMIM:618233Mitochondrial complex I deficiency, nuclear type 1026
HP:0002093HP:0002093Respiratory insufficiency0NDUFAF3 CL E G H2591529918ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent31
HP:0002093HP:0002093Respiratory insufficiency0NDUFAF3 CL E G H2591529918ORPHA:70474Leigh syndrome with cardiomyopathy31
HP:0002093HP:0002093Respiratory insufficiency0NDUFAF3 CL E G H2591529918OMIM:618240Mitochondrial complex I deficiency, nuclear type 1831
HP:0002093HP:0002093Respiratory insufficiency0NDUFAF4 CL E G H2907821034ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent50
HP:0002093HP:0002093Respiratory insufficiency0NDUFAF5 CL E G H7913315899ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent34
HP:0002093HP:0002093Respiratory insufficiency0NDUFAF8 CL E G H28418433551ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent
HP:0002093HP:0002093Respiratory insufficiency0NDUFAF8 CL E G H28418433551OMIM:618776MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34; MC1DN34
HP:0002093HP:0002093Respiratory insufficiency0NDUFB10 CL E G H47167696ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent
HP:0002093HP:0002093Respiratory insufficiency0NDUFB10 CL E G H47167696OMIM:619003MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35
HP:0002093HP:0002093Respiratory insufficiency0NDUFB11 CL E G H5453920372ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent3
HP:0002093HP:0002093Respiratory insufficiency0NDUFB11 CL E G H5453920372ORPHA:2556Microphthalmia with linear skin defects syndrome3
HP:0002093HP:0002093Respiratory insufficiency0NDUFB11 CL E G H5453920372OMIM:301021Mitochondrial complex I deficiency, nuclear type 303
HP:0002093HP:0002093Respiratory insufficiency0NDUFB3 CL E G H47097698ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent9
HP:0002093HP:0002093Respiratory insufficiency0NDUFB8 CL E G H47147703ORPHA:70474Leigh syndrome with cardiomyopathy
HP:0002093HP:0002093Respiratory insufficiency0NDUFB8 CL E G H47147703OMIM:618252Mitochondrial complex I deficiency, nuclear type 32.
HP:0002093HP:0002093Respiratory insufficiency0NDUFB9 CL E G H47157704ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent16
HP:0002093HP:0002093Respiratory insufficiency0NDUFS1 CL E G H47197707ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent81
HP:0002093HP:0002093Respiratory insufficiency0NDUFS1 CL E G H47197707OMIM:618226Mitochondrial complex I deficiency, nuclear type 5.81
HP:0002093HP:0002093Respiratory insufficiency0NDUFS2 CL E G H47207708ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent65
HP:0002093HP:0002093Respiratory insufficiency0NDUFS2 CL E G H47207708ORPHA:70474Leigh syndrome with cardiomyopathy65
HP:0002093HP:0002093Respiratory insufficiency0NDUFS2 CL E G H47207708OMIM:618228Mitochondrial complex I deficiency, nuclear type 6.65
HP:0002093HP:0002093Respiratory insufficiency0NDUFS3 CL E G H47227710ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent22
HP:0002093HP:0002093Respiratory insufficiency0NDUFS3 CL E G H47227710OMIM:618230Mitochondrial complex I deficiency, nuclear type 8.22
HP:0002093HP:0002093Respiratory insufficiency0NDUFS4 CL E G H47247711ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent27
HP:0002093HP:0002093Respiratory insufficiency0NDUFS4 CL E G H47247711OMIM:252010Mitochondrial complex I deficiency, nuclear type 1.27
HP:0002093HP:0002093Respiratory insufficiency0NDUFS6 CL E G H47267713ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent21
HP:0002093HP:0002093Respiratory insufficiency0NDUFS7 CL E G H3742917714ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent38
HP:0002093HP:0002093Respiratory insufficiency0NDUFS7 CL E G H3742917714OMIM:618224Mitochondrial complex I deficiency, nuclear type 3.38
HP:0002093HP:0002093Respiratory insufficiency0NDUFS8 CL E G H47287715ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent42
HP:0002093HP:0002093Respiratory insufficiency0NDUFS8 CL E G H47287715OMIM:618222Mitochondrial complex I deficiency, nuclear type 2.42
HP:0002093HP:0002093Respiratory insufficiency0NDUFV1 CL E G H47237716ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent74
HP:0002093HP:0002093Respiratory insufficiency0NDUFV2 CL E G H47297717ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent27
HP:0002093HP:0002093Respiratory insufficiency0NEB CL E G H47037720OMIM:619334ARTHROGRYPOSIS MULTIPLEX CONGENITA 6; AMC6745
HP:0002093HP:0002093Respiratory insufficiency0NEB CL E G H47037720ORPHA:171439Childhood-onset nemaline myopathy745
HP:0002093HP:0002093Respiratory insufficiency0NEB CL E G H47037720ORPHA:171433Intermediate nemaline myopathy745
HP:0002093HP:0002093Respiratory insufficiency0NEB CL E G H47037720OMIM:256030Nemaline myopathy 2, autosomal recessive745
HP:0002093HP:0002093Respiratory insufficiency0NEB CL E G H47037720ORPHA:171430Severe congenital nemaline myopathy745
HP:0002093HP:0002093Respiratory insufficiency0NEB CL E G H47037720ORPHA:171436Typical nemaline myopathyHP:0040282 - Frequent745
HP:0002093HP:0002093Respiratory insufficiency0NEFH CL E G H47447737ORPHA:803Amyotrophic lateral sclerosis24
HP:0002093HP:0002093Respiratory insufficiency0NEK1 CL E G H47507744ORPHA:803Amyotrophic lateral sclerosis101
HP:0002093HP:0002093Respiratory insufficiency0NEK1 CL E G H47507744OMIM:617892Amyotrophic lateral sclerosis, susceptibility to, 24HP:0040284 - Very rare101
HP:0002093HP:0002093Respiratory insufficiency0NEK10 CL E G H15211018592OMIM:618781CILIARY DYSKINESIA, PRIMARY, 44; CILD44
HP:0002093HP:0002093Respiratory insufficiency0NEK10 CL E G H15211018592ORPHA:244Primary ciliary dyskinesia
HP:0002093HP:0002093Respiratory insufficiency0NFASC CL E G H2311429866OMIM:618356Neurodevelopmental disorder with central and peripheral motor dysfunction.
HP:0002093HP:0002093Respiratory insufficiency0NFS1 CL E G H905415910OMIM:619386COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD525
HP:0002093HP:0002093Respiratory insufficiency0NFU1 CL E G H2724716287OMIM:605711Multiple mitochondrial dysfunctions syndrome 1.34
HP:0002093HP:0002093Respiratory insufficiency0NHLRC2 CL E G H37435424731OMIM:618278Fibrosis, neurodegeneration, and cerebral angiomatosis.
HP:0002093HP:0002093Respiratory insufficiency0NKX2-1 CL E G H708011825ORPHA:209905Brain-lung-thyroid syndrome51
HP:0002093HP:0002093Respiratory insufficiency0NKX2-1 CL E G H708011825OMIM:610978Choreoathetosis, hypothyroidism, and neonatal respiratory distress51
HP:0002093HP:0002093Respiratory insufficiency0NME8 CL E G H5131416473ORPHA:244Primary ciliary dyskinesia50
HP:0002093HP:0002093Respiratory insufficiency0NOTCH2NLC CL E G H10099671753924ORPHA:98897Oculopharyngodistal myopathy
HP:0002093HP:0002093Respiratory insufficiency0NPC2 CL E G H1057714537OMIM:607625Niemann-pick disease, type C2.33
HP:0002093HP:0002093Respiratory insufficiency0NPHS1 CL E G H48687908OMIM:256300Nephrotic syndrome, type 1241
HP:0002093HP:0002093Respiratory insufficiency0NR1H4 CL E G H99717967ORPHA:69665Intrahepatic cholestasis of pregnancy14
HP:0002093HP:0002093Respiratory insufficiency0NSF CL E G H49058016OMIM:619340DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 96; DEE96
HP:0002093HP:0002093Respiratory insufficiency0NSUN2 CL E G H5488825994ORPHA:235Dubowitz syndromeHP:0040282 - Frequent84
HP:0002093HP:0002093Respiratory insufficiency0NUBPL CL E G H8022420278ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent89
HP:0002093HP:0002093Respiratory insufficiency0NUP188 CL E G H2351117859OMIM:618804SANDESTIG-STEFANOVA SYNDROME; SANDSTEF4
HP:0002093HP:0002093Respiratory insufficiency0NUP88 CL E G H49278067ORPHA:994Fetal akinesia deformation sequenceHP:0040281 - Very frequent
HP:0002093HP:0002093Respiratory insufficiency0NUTM2B-AS1 CL E G H10106069151204OMIM:618637OCULOPHARYNGEAL MYOPATHY WITH LEUKOENCEPHALOPATHY 1; OPML1
HP:0002093HP:0002093Respiratory insufficiency0OAS1 CL E G H49388086OMIM:618042Pulmonary alveolar proteinosis with hypogammaglobulinemia.2
HP:0002093HP:0002093Respiratory insufficiency0OCRL CL E G H49528108ORPHA:534Oculocerebrorenal syndrome of LoweHP:0040283 - Occasional88
HP:0002093HP:0002093Respiratory insufficiency0ODAD1 CL E G H9323326560OMIM:615067Ciliary dyskinesia, primary, 20
HP:0002093HP:0002093Respiratory insufficiency0ODAD1 CL E G H9323326560ORPHA:244Primary ciliary dyskinesia
HP:0002093HP:0002093Respiratory insufficiency0ODAD2 CL E G H5513025583OMIM:615451CILIARY DYSKINESIA, PRIMARY, 23; CILD23
HP:0002093HP:0002093Respiratory insufficiency0ODAD2 CL E G H5513025583ORPHA:244Primary ciliary dyskinesia
HP:0002093HP:0002093Respiratory insufficiency0ODAD3 CL E G H11594828303OMIM:616037Ciliary dyskinesia, primary, 30.HP:0003623 - Neonatal onset
HP:0002093HP:0002093Respiratory insufficiency0ODAD3 CL E G H11594828303ORPHA:244Primary ciliary dyskinesia
HP:0002093HP:0002093Respiratory insufficiency0ODAD4 CL E G H8353825280ORPHA:244Primary ciliary dyskinesia
HP:0002093HP:0002093Respiratory insufficiency0OFD1 CL E G H84812567ORPHA:244Primary ciliary dyskinesia201
HP:0002093HP:0002093Respiratory insufficiency0OPTN CL E G H1013317142ORPHA:803Amyotrophic lateral sclerosis62
HP:0002093HP:0002093Respiratory insufficiency0OPTN CL E G H1013317142OMIM:613435Amyotrophic lateral sclerosis 1262
HP:0002093HP:0002093Respiratory insufficiency0ORAI1 CL E G H8487625896OMIM:612782Immunodeficiency 919
HP:0002093HP:0002093Respiratory insufficiency0ORC1 CL E G H49988487ORPHA:2554Ear-patella-short stature syndrome53
HP:0002093HP:0002093Respiratory insufficiency0ORC4 CL E G H50008490ORPHA:2554Ear-patella-short stature syndrome21
HP:0002093HP:0002093Respiratory insufficiency0ORC6 CL E G H2359417151ORPHA:2554Ear-patella-short stature syndrome39
HP:0002093HP:0002093Respiratory insufficiency0OSTM1 CL E G H2896221652OMIM:259720Osteopetrosis, autosomal recessive 573
HP:0002093HP:0002093Respiratory insufficiency0PAX2 CL E G H50768616ORPHA:97362Renal hypoplasia, bilateral39
HP:0002093HP:0002093Respiratory insufficiency0PAX7 CL E G H50818621OMIM:618578MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO
HP:0002093HP:0002093Respiratory insufficiency0PBX1 CL E G H50878632OMIM:617641Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delayHP:0040284 - Very rare3
HP:0002093HP:0002093Respiratory insufficiency0PBX1 CL E G H50878632ORPHA:97362Renal hypoplasia, bilateral3
HP:0002093HP:0002093Respiratory insufficiency0PDHA1 CL E G H51608806ORPHA:79243Pyruvate dehydrogenase E1-alpha deficiency88
HP:0002093HP:0002093Respiratory insufficiency0PDHA1 CL E G H51608806OMIM:312170Pyruvate dehydrogenase e1-alpha deficiency88
HP:0002093HP:0002093Respiratory insufficiency0PEX1 CL E G H51898850OMIM:214100Peroxisome biogenesis disorder 1A (Zellweger)169
HP:0002093HP:0002093Respiratory insufficiency0PEX1 CL E G H51898850ORPHA:912Zellweger syndromeHP:0040281 - Very frequent169
HP:0002093HP:0002093Respiratory insufficiency0PEX10 CL E G H51928851ORPHA:912Zellweger syndromeHP:0040281 - Very frequent75
HP:0002093HP:0002093Respiratory insufficiency0PEX11B CL E G H87998853ORPHA:912Zellweger syndromeHP:0040281 - Very frequent4
HP:0002093HP:0002093Respiratory insufficiency0PEX12 CL E G H51938854ORPHA:912Zellweger syndromeHP:0040281 - Very frequent65
HP:0002093HP:0002093Respiratory insufficiency0PEX13 CL E G H51948855ORPHA:912Zellweger syndromeHP:0040281 - Very frequent66
HP:0002093HP:0002093Respiratory insufficiency0PEX14 CL E G H51958856ORPHA:912Zellweger syndromeHP:0040281 - Very frequent46
HP:0002093HP:0002093Respiratory insufficiency0PEX16 CL E G H94098857ORPHA:912Zellweger syndromeHP:0040281 - Very frequent59
HP:0002093HP:0002093Respiratory insufficiency0PEX19 CL E G H58249713ORPHA:912Zellweger syndromeHP:0040281 - Very frequent62
HP:0002093HP:0002093Respiratory insufficiency0PEX2 CL E G H58289717ORPHA:912Zellweger syndromeHP:0040281 - Very frequent82
HP:0002093HP:0002093Respiratory insufficiency0PEX26 CL E G H5567022965ORPHA:912Zellweger syndromeHP:0040281 - Very frequent106
HP:0002093HP:0002093Respiratory insufficiency0PEX3 CL E G H85048858ORPHA:912Zellweger syndromeHP:0040281 - Very frequent47
HP:0002093HP:0002093Respiratory insufficiency0PEX5 CL E G H58309719ORPHA:912Zellweger syndromeHP:0040281 - Very frequent99
HP:0002093HP:0002093Respiratory insufficiency0PEX6 CL E G H51908859OMIM:614862Peroxisome biogenesis disorder 4A (Zellweger)98
HP:0002093HP:0002093Respiratory insufficiency0PEX6 CL E G H51908859ORPHA:912Zellweger syndromeHP:0040281 - Very frequent98
HP:0002093HP:0002093Respiratory insufficiency0PEX7 CL E G H51918860ORPHA:773Refsum diseaseHP:0040283 - Occasional72
HP:0002093HP:0002093Respiratory insufficiency0PEX7 CL E G H51918860OMIM:215100Rhizomelic chondrodysplasia punctata, type 1.72
HP:0002093HP:0002093Respiratory insufficiency0PFN1 CL E G H52168881ORPHA:803Amyotrophic lateral sclerosis6
HP:0002093HP:0002093Respiratory insufficiency0PHOX2B CL E G H89299143ORPHA:661Ondine syndromeHP:0040281 - Very frequent86
HP:0002093HP:0002093Respiratory insufficiency0PHYH CL E G H52648940ORPHA:773Refsum diseaseHP:0040283 - Occasional45
HP:0002093HP:0002093Respiratory insufficiency0PIEZO2 CL E G H6389526270OMIM:617146Arthrogryposis, distal, with impaired proprioception and touch77
HP:0002093HP:0002093Respiratory insufficiency0PIGA CL E G H52778957OMIM:300868Multiple congenital anomalies-hypotonia-seizures syndrome 246
HP:0002093HP:0002093Respiratory insufficiency0PIK3CD CL E G H52938977ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomalies9
HP:0002093HP:0002093Respiratory insufficiency0PIP5K1C CL E G H233968996OMIM:611369Lethal congenital contracture syndrome 31
HP:0002093HP:0002093Respiratory insufficiency0PKHD1 CL E G H53149016ORPHA:731Autosomal recessive polycystic kidney disease563
HP:0002093HP:0002093Respiratory insufficiency0PLAA CL E G H93739043OMIM:617527Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies.3
HP:0002093HP:0002093Respiratory insufficiency0PLAA CL E G H93739043ORPHA:521426PLAA-associated neurodevelopmental disorderHP:0040282 - Frequent3
HP:0002093HP:0002093Respiratory insufficiency0PLAGL1 CL E G H53259046ORPHA:96191Paternal uniparental disomy of chromosome 6
HP:0002093HP:0002093Respiratory insufficiency0PLCB3 CL E G H53319056OMIM:618961SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY; SMDCD
HP:0002093HP:0002093Respiratory insufficiency0PLEC CL E G H53399069OMIM:226670Epidermolysis bullosa simplex with muscular dystrophy759
HP:0002093HP:0002093Respiratory insufficiency0PLEKHG5 CL E G H5744929105OMIM:611067Spinal muscular atrophy, distal, autosomal recessive, 4186
HP:0002093HP:0002093Respiratory insufficiency0PLOD1 CL E G H53519081OMIM:225400Ehlers-Danlos syndrome, kyphoscoliotic type, 1.105
HP:0002093HP:0002093Respiratory insufficiency0PLOD2 CL E G H53529082ORPHA:2771Bruck syndromeHP:0040282 - Frequent45
HP:0002093HP:0002093Respiratory insufficiency0PLP1 CL E G H53549086ORPHA:280210Pelizaeus-Merzbacher disease, connatal form60
HP:0002093HP:0002093Respiratory insufficiency0PLPBP CL E G H112129457OMIM:617290Epilepsy, early-onset, vitamin b6-dependent.HP:0003623 - Neonatal onset6
HP:0002093HP:0002093Respiratory insufficiency0PLPBP CL E G H112129457ORPHA:3006Pyridoxine-dependent epilepsy6
HP:0002093HP:0002093Respiratory insufficiency0PMP22 CL E G H53769118ORPHA:640Hereditary neuropathy with liability to pressure palsiesHP:0040283 - Occasional79
HP:0002093HP:0002093Respiratory insufficiency0POGLUT1 CL E G H5698322954OMIM:617232Muscular dystrophy, limb-girdle, type 2Z.6
HP:0002093HP:0002093Respiratory insufficiency0POLG CL E G H54289179ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional464
HP:0002093HP:0002093Respiratory insufficiency0POLG CL E G H54289179OMIM:258450Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive464
HP:0002093HP:0002093Respiratory insufficiency0POLG CL E G H54289179OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis464
HP:0002093HP:0002093Respiratory insufficiency0POLG2 CL E G H112329180ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional45
HP:0002093HP:0002093Respiratory insufficiency0POLR1B CL E G H8417220454OMIM:618939TREACHER COLLINS SYNDROME 4; TCS4
HP:0002093HP:0002093Respiratory insufficiency0POLR1B CL E G H8417220454ORPHA:861Treacher-Collins syndromeHP:0040283 - Occasional
HP:0002093HP:0002093Respiratory insufficiency0POLR1C CL E G H953320194ORPHA:861Treacher-Collins syndromeHP:0040283 - Occasional38
HP:0002093HP:0002093Respiratory insufficiency0POLR1D CL E G H5108220422ORPHA:861Treacher-Collins syndromeHP:0040283 - Occasional31
HP:0002093HP:0002093Respiratory insufficiency0POMK CL E G H8419726267OMIM:615249MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1218
HP:0002093HP:0002093Respiratory insufficiency0POMT1 CL E G H105859202ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040283 - Occasional213
HP:0002093HP:0002093Respiratory insufficiency0POMT2 CL E G H2995419743ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040283 - Occasional221
HP:0002093HP:0002093Respiratory insufficiency0POMT2 CL E G H2995419743OMIM:613156MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2.221
HP:0002093HP:0002093Respiratory insufficiency0PON1 CL E G H54449204ORPHA:803Amyotrophic lateral sclerosis4
HP:0002093HP:0002093Respiratory insufficiency0PON2 CL E G H54459205ORPHA:803Amyotrophic lateral sclerosis2
HP:0002093HP:0002093Respiratory insufficiency0PON3 CL E G H54469206ORPHA:803Amyotrophic lateral sclerosis1
HP:0002093HP:0002093Respiratory insufficiency0PPARGC1A CL E G H108919237ORPHA:803Amyotrophic lateral sclerosis1
HP:0002093HP:0002093Respiratory insufficiency0PRDM13 CL E G H5933613998OMIM:6199092
HP:0002093HP:0002093Respiratory insufficiency0PRIM1 CL E G H55579369OMIM:620005
HP:0002093HP:0002093Respiratory insufficiency0PRKCSH CL E G H55899411ORPHA:2924Isolated polycystic liver diseaseHP:0040283 - Occasional63
HP:0002093HP:0002093Respiratory insufficiency0PRPH CL E G H56309461ORPHA:803Amyotrophic lateral sclerosis25
HP:0002093HP:0002093Respiratory insufficiency0PRPS1 CL E G H56319462ORPHA:1187Lethal ataxia with deafness and optic atrophy49
HP:0002093HP:0002093Respiratory insufficiency0PRTN3 CL E G H56579495ORPHA:900Granulomatosis with polyangiitisHP:0040282 - Frequent
HP:0002093HP:0002093Respiratory insufficiency0PRUNE1 CL E G H5849713420ORPHA:544469PRUNE1-related neurological syndrome8
HP:0002093HP:0002093Respiratory insufficiency0PSAP CL E G H56609498ORPHA:139406Encephalopathy due to prosaposin deficiencyHP:0040281 - Very frequent81
HP:0002093HP:0002093Respiratory insufficiency0PSAP CL E G H56609498ORPHA:206436Infantile Krabbe disease81
HP:0002093HP:0002093Respiratory insufficiency0PSAP CL E G H56609498OMIM:611722KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY81
HP:0002093HP:0002093Respiratory insufficiency0PTCD3 CL E G H5503724717OMIM:619057COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51; COXPD51
HP:0002093HP:0002093Respiratory insufficiency0PTPN22 CL E G H261919652ORPHA:900Granulomatosis with polyangiitisHP:0040282 - Frequent3
HP:0002093HP:0002093Respiratory insufficiency0PURA CL E G H58139701OMIM:616158Mental retardation, autosomal dominant 31.53
HP:0002093HP:0002093Respiratory insufficiency0RALGAPA1 CL E G H25395917770OMIM:618797NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT1
HP:0002093HP:0002093Respiratory insufficiency0RAPSN CL E G H59139863ORPHA:994Fetal akinesia deformation sequenceHP:0040281 - Very frequent73
HP:0002093HP:0002093Respiratory insufficiency0RAPSN CL E G H59139863OMIM:618388FETAL AKINESIA DEFORMATION SEQUENCE 2; FADS273
HP:0002093HP:0002093Respiratory insufficiency0RAPSN CL E G H59139863OMIM:616326Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency.73
HP:0002093HP:0002093Respiratory insufficiency0RAPSN CL E G H59139863ORPHA:98913Postsynaptic congenital myasthenic syndromes73
HP:0002093HP:0002093Respiratory insufficiency0REN CL E G H59729958OMIM:267430Renal tubular dysgenesis.25
HP:0002093HP:0002093Respiratory insufficiency0RFT1 CL E G H9186930220OMIM:612015Congenital disorder of glycosylation, type IN.92
HP:0002093HP:0002093Respiratory insufficiency0RIPPLY2 CL E G H13470121390ORPHA:2311Autosomal recessive spondylocostal dysostosisHP:0040281 - Very frequent3
HP:0002093HP:0002093Respiratory insufficiency0RMRP CL E G H602310031ORPHA:175Cartilage-hair hypoplasiaHP:0040281 - Very frequent37
HP:0002093HP:0002093Respiratory insufficiency0RNASEH1 CL E G H24624318466ORPHA:329336Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy3
HP:0002093HP:0002093Respiratory insufficiency0RNASEH1 CL E G H24624318466OMIM:616479Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2HP:0040283 - Occasional3
HP:0002093HP:0002093Respiratory insufficiency0RNASEH2A CL E G H1053518518OMIM:610333Aicardi-Goutieres syndrome 4.33
HP:0002093HP:0002093Respiratory insufficiency0RNF168 CL E G H16591826661ORPHA:420741RIDDLE syndrome7
HP:0002093HP:0002093Respiratory insufficiency0RNU4ATAC CL E G H10015168334016ORPHA:2636Microcephalic osteodysplastic primordial dwarfism types I and III15
HP:0002093HP:0002093Respiratory insufficiency0RNU4ATAC CL E G H10015168334016OMIM:210710Microcephalic osteodysplastic primordial dwarfism, type I15
HP:0002093HP:0002093Respiratory insufficiency0RPGR CL E G H610310295ORPHA:244Primary ciliary dyskinesia200
HP:0002093HP:0002093Respiratory insufficiency0RRM2B CL E G H5048417296ORPHA:329336Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy125
HP:0002093HP:0002093Respiratory insufficiency0RRM2B CL E G H5048417296ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional125
HP:0002093HP:0002093Respiratory insufficiency0RSPH1 CL E G H8976512371ORPHA:244Primary ciliary dyskinesia31
HP:0002093HP:0002093Respiratory insufficiency0RSPH3 CL E G H8386121054OMIM:616481Ciliary dyskinesia, primary, 325
HP:0002093HP:0002093Respiratory insufficiency0RSPH3 CL E G H8386121054ORPHA:244Primary ciliary dyskinesia5
HP:0002093HP:0002093Respiratory insufficiency0RSPH4A CL E G H34589521558OMIM:612649Ciliary dyskinesia, primary, 1158
HP:0002093HP:0002093Respiratory insufficiency0RSPH4A CL E G H34589521558ORPHA:244Primary ciliary dyskinesia58
HP:0002093HP:0002093Respiratory insufficiency0RSPH9 CL E G H22142121057OMIM:612650CILIARY DYSKINESIA, PRIMARY, 12; CILD1220
HP:0002093HP:0002093Respiratory insufficiency0RSPH9 CL E G H22142121057ORPHA:244Primary ciliary dyskinesia20
HP:0002093HP:0002093Respiratory insufficiency0RTL1 CL E G H38801514665ORPHA:254528Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
HP:0002093HP:0002093Respiratory insufficiency0RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0002093HP:0002093Respiratory insufficiency0RUNX2 CL E G H86010472OMIM:119600Cleidocranial dysplasia90
HP:0002093HP:0002093Respiratory insufficiency0RYR1 CL E G H626110483ORPHA:169189Autosomal dominant centronuclear myopathy1200
HP:0002093HP:0002093Respiratory insufficiency0RYR1 CL E G H626110483ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040282 - Frequent1200
HP:0002093HP:0002093Respiratory insufficiency0RYR1 CL E G H626110483ORPHA:597Central core disease1200
HP:0002093HP:0002093Respiratory insufficiency0RYR1 CL E G H626110483ORPHA:98905Congenital multicore myopathy with external ophthalmoplegia1200
HP:0002093HP:0002093Respiratory insufficiency0RYR1 CL E G H626110483ORPHA:424107Congenital myopathy with myasthenic-like onset1200
HP:0002093HP:0002093Respiratory insufficiency0RYR1 CL E G H626110483OMIM:255320Minicore myopathy with external ophthalmoplegia.1200
HP:0002093HP:0002093Respiratory insufficiency0RYR1 CL E G H626110483OMIM:255310Myopathy, congenital, with fiber-type disproportion.1200
HP:0002093HP:0002093Respiratory insufficiency0SARS2 CL E G H5493817697OMIM:613845Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome.60
HP:0002093HP:0002093Respiratory insufficiency0SBDS CL E G H5111919440OMIM:260400Shwachman-Diamond syndrome 126
HP:0002093HP:0002093Respiratory insufficiency0SBF2 CL E G H818462135ORPHA:99956Charcot-Marie-Tooth disease type 4B2180
HP:0002093HP:0002093Respiratory insufficiency0SCN4A CL E G H632910591ORPHA:682Hyperkalemic periodic paralysisHP:0040283 - Occasional263
HP:0002093HP:0002093Respiratory insufficiency0SCN4A CL E G H632910591ORPHA:684Paramyotonia congenita of Von Eulenburg263
HP:0002093HP:0002093Respiratory insufficiency0SCN4A CL E G H632910591ORPHA:98913Postsynaptic congenital myasthenic syndromes263
HP:0002093HP:0002093Respiratory insufficiency0SCO2 CL E G H999710604ORPHA:70474Leigh syndrome with cardiomyopathy40
HP:0002093HP:0002093Respiratory insufficiency0SCYL2 CL E G H5568119286ORPHA:1143Neurogenic arthrogryposis multiplex congenita
HP:0002093HP:0002093Respiratory insufficiency0SEC63 CL E G H1123121082ORPHA:2924Isolated polycystic liver diseaseHP:0040283 - Occasional137
HP:0002093HP:0002093Respiratory insufficiency0SELENON CL E G H5719015999ORPHA:324604Classic multiminicore myopathy144
HP:0002093HP:0002093Respiratory insufficiency0SELENON CL E G H5719015999ORPHA:2020Congenital fiber-type disproportion myopathy144
HP:0002093HP:0002093Respiratory insufficiency0SELENON CL E G H5719015999OMIM:255310Myopathy, congenital, with fiber-type disproportion.144
HP:0002093HP:0002093Respiratory insufficiency0SELENON CL E G H5719015999ORPHA:97244Rigid spine syndromeHP:0040281 - Very frequent144
HP:0002093HP:0002093Respiratory insufficiency0SEMA3E CL E G H972310727ORPHA:138CHARGE syndromeHP:0040283 - Occasional16
HP:0002093HP:0002093Respiratory insufficiency0SEPTIN9 CL E G H108017323ORPHA:2901Neuralgic amyotrophyHP:0040283 - Occasional
HP:0002093HP:0002093Respiratory insufficiency0SF3B4 CL E G H1026210771ORPHA:245Nager syndromeHP:0040282 - Frequent49
HP:0002093HP:0002093Respiratory insufficiency0SFTPB CL E G H643910801ORPHA:70587Infant acute respiratory distress syndrome51
HP:0002093HP:0002093Respiratory insufficiency0SFTPB CL E G H643910801ORPHA:217563Neonatal acute respiratory distress due to SP-B deficiency51
HP:0002093HP:0002093Respiratory insufficiency0SFTPB CL E G H643910801OMIM:265120Surfactant metabolism dysfunction, pulmonary, 151
HP:0002093HP:0002093Respiratory insufficiency0SFTPC CL E G H644010802ORPHA:70587Infant acute respiratory distress syndrome33
HP:0002093HP:0002093Respiratory insufficiency0SFTPC CL E G H644010802OMIM:610913Surfactant metabolism dysfunction, pulmonary, 233
HP:0002093HP:0002093Respiratory insufficiency0SH3TC2 CL E G H7962829427ORPHA:99949Charcot-Marie-Tooth disease type 4CHP:0040283 - Occasional493
HP:0002093HP:0002093Respiratory insufficiency0SHPK CL E G H237291492ORPHA:440713Isolated sedoheptulokinase deficiency2
HP:0002093HP:0002093Respiratory insufficiency0SLC18A3 CL E G H657210936ORPHA:994Fetal akinesia deformation sequenceHP:0040281 - Very frequent2
HP:0002093HP:0002093Respiratory insufficiency0SLC18A3 CL E G H657210936OMIM:617239Myasthenic syndrome, congenital, 21, presynaptic.2
HP:0002093HP:0002093Respiratory insufficiency0SLC18A3 CL E G H657210936ORPHA:98914Presynaptic congenital myasthenic syndromes2
HP:0002093HP:0002093Respiratory insufficiency0SLC19A3 CL E G H8070416266ORPHA:263410Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndromeHP:0040283 - Occasional110
HP:0002093HP:0002093Respiratory insufficiency0SLC25A1 CL E G H657610979OMIM:615182Combined d-2- and l-2-hydroxyglutaric aciduria.28
HP:0002093HP:0002093Respiratory insufficiency0SLC25A1 CL E G H657610979ORPHA:98914Presynaptic congenital myasthenic syndromes28
HP:0002093HP:0002093Respiratory insufficiency0SLC25A20 CL E G H7881421ORPHA:159Carnitine-acylcarnitine translocase deficiencyHP:0040281 - Very frequent40
HP:0002093HP:0002093Respiratory insufficiency0SLC25A20 CL E G H7881421OMIM:212138Carnitine-acylcarnitine translocase deficiency40
HP:0002093HP:0002093Respiratory insufficiency0SLC25A24 CL E G H2995720662OMIM:612289Fontaine progeroid syndrome.
HP:0002093HP:0002093Respiratory insufficiency0SLC25A26 CL E G H11528620661OMIM:616794Combined oxidative phosphorylation deficiency 285
HP:0002093HP:0002093Respiratory insufficiency0SLC25A3 CL E G H525010989OMIM:610773MITOCHONDRIAL PHOSPHATE CARRIER DEFICIENCY35
HP:0002093HP:0002093Respiratory insufficiency0SLC25A4 CL E G H29110990ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional68
HP:0002093HP:0002093Respiratory insufficiency0SLC25A4 CL E G H29110990OMIM:617184Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant68
HP:0002093HP:0002093Respiratory insufficiency0SLC25A46 CL E G H9113725198OMIM:616505Neuropathy, hereditary motor and sensory, type VIB14
HP:0002093HP:0002093Respiratory insufficiency0SLC25A46 CL E G H9113725198ORPHA:2254Pontocerebellar hypoplasia type 114
HP:0002093HP:0002093Respiratory insufficiency0SLC25A46 CL E G H9113725198OMIM:619303PONTOCEREBELLAR HYPOPLASIA, TYPE 1E; PCH1E14
HP:0002093HP:0002093Respiratory insufficiency0SLC26A2 CL E G H183610994OMIM:600972Achondrogenesis, type IB.166
HP:0002093HP:0002093Respiratory insufficiency0SLC26A2 CL E G H183610994OMIM:256050Atelosteogenesis, type II166
HP:0002093HP:0002093Respiratory insufficiency0SLC26A2 CL E G H183610994ORPHA:628Diastrophic dysplasiaHP:0040282 - Frequent166
HP:0002093HP:0002093Respiratory insufficiency0SLC26A4 CL E G H51728818ORPHA:705Pendred syndromeHP:0040283 - Occasional274
HP:0002093HP:0002093Respiratory insufficiency0SLC27A4 CL E G H1099910998OMIM:608649ICHTHYOSIS PREMATURITY SYNDROME; IPS26
HP:0002093HP:0002093Respiratory insufficiency0