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

 Sister Nodes: 
..expandIntercostal muscle weakness (HP:0004878) help
..expandNeonatal respiratory distress (HP:0002643) help
..expandobsolete Restrictive deficit on pulmonary function testing (HP:0002111) help
..expandRespiratory arrest (HP:0005943) help
..expandRespiratory failure requiring assisted ventilation (HP:0004887) help
..expandRespiratory insufficiency due to defective ciliary clearance (HP:0200073) help
..expandRespiratory insufficiency due to muscle weakness (HP:0002747) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002878HP:0002878Respiratory failure0ABCA3 CL E G H2133ORPHA:70587Infant acute respiratory distress syndromeHP:0040282 - Frequent147
HP:0002878HP:0002878Respiratory failure0ABCA3 CL E G H2133OMIM:610921Surfactant metabolism dysfunction, pulmonary, 3147
HP:0002878HP:0002878Respiratory failure0ACTA1 CL E G H58129ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional96
HP:0002878HP:0002878Respiratory failure0ACTA1 CL E G H58129ORPHA:171433Intermediate nemaline myopathyHP:0040282 - Frequent96
HP:0002878HP:0002878Respiratory failure0ACTA1 CL E G H58129ORPHA:171430Severe congenital nemaline myopathyHP:0040282 - Frequent96
HP:0002878HP:0002878Respiratory failure0ACVR1 CL E G H90171OMIM:135100Fibrodysplasia ossificans progressiva.49
HP:0002878HP:0002878Respiratory failure0AGRN CL E G H375790329ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional127
HP:0002878HP:0002878Respiratory failure0AGTPBP1 CL E G H2328717258ORPHA:2254Pontocerebellar hypoplasia type 11
HP:0002878HP:0002878Respiratory failure0AHCY CL E G H191343ORPHA:88618S-adenosylhomocysteine hydrolase deficiencyHP:0040283 - Occasional31
HP:0002878HP:0002878Respiratory failure0AK9 CL E G H22126433814ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional1
HP:0002878HP:0002878Respiratory failure0ALG1 CL E G H5605218294ORPHA:79327ALG1-CDGHP:0040283 - Occasional58
HP:0002878HP:0002878Respiratory failure0ANG CL E G H283483ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent32
HP:0002878HP:0002878Respiratory failure0ANXA11 CL E G H311535ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent
HP:0002878HP:0002878Respiratory failure0ASAH1 CL E G H427735ORPHA:2590Spinal muscular atrophy-progressive myoclonic epilepsy syndromeHP:0040283 - Occasional78
HP:0002878HP:0002878Respiratory failure0ASCC1 CL E G H5100824268OMIM:616867Spinal muscular atrophy with congenital bone fractures 22
HP:0002878HP:0002878Respiratory failure0ATAD1 CL E G H8489625903OMIM:618011Hyperekplexia 4
HP:0002878HP:0002878Respiratory failure0ATXN1 CL E G H631010548ORPHA:98755Spinocerebellar ataxia type 1HP:0040283 - Occasional19
HP:0002878HP:0002878Respiratory failure0ATXN2 CL E G H631110555ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent11
HP:0002878HP:0002878Respiratory failure0BCHE CL E G H590983ORPHA:132Butyrylcholinesterase deficiencyHP:0040282 - Frequent67
HP:0002878HP:0002878Respiratory failure0BICD2 CL E G H2329917208OMIM:618291Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant.46
HP:0002878HP:0002878Respiratory failure0BLM CL E G H6411058ORPHA:125Bloom syndromeHP:0040284 - Very rare314
HP:0002878HP:0002878Respiratory failure0BOLA3 CL E G H38896224415OMIM:614299Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia.14
HP:0002878HP:0002878Respiratory failure0BSCL2 CL E G H2658015832ORPHA:363400Severe neurodegenerative syndrome with lipodystrophyHP:0040283 - Occasional105
HP:0002878HP:0002878Respiratory failure0C9ORF72 CL E G H20322828337ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent56
HP:0002878HP:0002878Respiratory failure0CCDC103 CL E G H38838932700ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare36
HP:0002878HP:0002878Respiratory failure0CCDC39 CL E G H33982925244ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare126
HP:0002878HP:0002878Respiratory failure0CCDC40 CL E G H5503626090ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare182
HP:0002878HP:0002878Respiratory failure0CCDC65 CL E G H8547829937ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare23
HP:0002878HP:0002878Respiratory failure0CCNF CL E G H8991591ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent
HP:0002878HP:0002878Respiratory failure0CCNO CL E G H1030918576ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare23
HP:0002878HP:0002878Respiratory failure0CDC45 CL E G H83181739ORPHA:2554Ear-patella-short stature syndromeHP:0040282 - Frequent9
HP:0002878HP:0002878Respiratory failure0CDC6 CL E G H9901744ORPHA:2554Ear-patella-short stature syndromeHP:0040282 - Frequent31
HP:0002878HP:0002878Respiratory failure0CDT1 CL E G H8162024576ORPHA:2554Ear-patella-short stature syndromeHP:0040282 - Frequent50
HP:0002878HP:0002878Respiratory failure0CFAP221 CL E G H20037333720ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare
HP:0002878HP:0002878Respiratory failure0CFAP298 CL E G H566831301ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare
HP:0002878HP:0002878Respiratory failure0CFAP300 CL E G H8501628188ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare
HP:0002878HP:0002878Respiratory failure0CFAP410 CL E G H7551260ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent
HP:0002878HP:0002878Respiratory failure0CHCHD10 CL E G H40091615559ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent11
HP:0002878HP:0002878Respiratory failure0CHMP2B CL E G H2597824537ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent42
HP:0002878HP:0002878Respiratory failure0CHRNA1 CL E G H11341955ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional74
HP:0002878HP:0002878Respiratory failure0CHRNB1 CL E G H11401961ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional53
HP:0002878HP:0002878Respiratory failure0CHRND CL E G H11441965ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional88
HP:0002878HP:0002878Respiratory failure0CHRNE CL E G H11451966ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional139
HP:0002878HP:0002878Respiratory failure0CLPB CL E G H8157030664ORPHA:4450383-methylglutaconic aciduria type 7HP:0040283 - Occasional38
HP:0002878HP:0002878Respiratory failure0COL12A1 CL E G H13032188ORPHA:75840Congenital muscular dystrophy, Ullrich typeHP:0040282 - Frequent65
HP:0002878HP:0002878Respiratory failure0COL13A1 CL E G H13052190ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional6
HP:0002878HP:0002878Respiratory failure0COL6A1 CL E G H12912211ORPHA:75840Congenital muscular dystrophy, Ullrich typeHP:0040282 - Frequent442
HP:0002878HP:0002878Respiratory failure0COL6A2 CL E G H12922212ORPHA:75840Congenital muscular dystrophy, Ullrich typeHP:0040282 - Frequent478
HP:0002878HP:0002878Respiratory failure0COL6A3 CL E G H12932213ORPHA:75840Congenital muscular dystrophy, Ullrich typeHP:0040282 - Frequent702
HP:0002878HP:0002878Respiratory failure0COX7B CL E G H13492291ORPHA:2556Microphthalmia with linear skin defects syndromeHP:0040283 - Occasional6
HP:0002878HP:0002878Respiratory failure0CPT2 CL E G H13762330OMIM:608836Carnitine palmitoyltransferase II deficiency, lethal neonatal.101
HP:0002878HP:0002878Respiratory failure0CRYAB CL E G H14102389OMIM:613869Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related.46
HP:0002878HP:0002878Respiratory failure0CTSD CL E G H15092529OMIM:610127Ceroid lipofuscinosis, neuronal, 10.159
HP:0002878HP:0002878Respiratory failure0DAG1 CL E G H16052666OMIM:616538MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9.108
HP:0002878HP:0002878Respiratory failure0DAO CL E G H16102671ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent
HP:0002878HP:0002878Respiratory failure0DCTN1 CL E G H16392711ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent86
HP:0002878HP:0002878Respiratory failure0DLK1 CL E G H87882907ORPHA:254528Kagami-Ogata syndrome due to maternal 14q32.2 microdeletionHP:0040282 - Frequent1
HP:0002878HP:0002878Respiratory failure0DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040282 - Frequent1
HP:0002878HP:0002878Respiratory failure0DMD CL E G H17562928OMIM:310200Duchenne muscular dystrophy.1496
HP:0002878HP:0002878Respiratory failure0DNAAF1 CL E G H12387230539ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare116
HP:0002878HP:0002878Respiratory failure0DNAAF11 CL E G H2363916725ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare
HP:0002878HP:0002878Respiratory failure0DNAAF2 CL E G H5517220188ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare78
HP:0002878HP:0002878Respiratory failure0DNAAF3 CL E G H35290930492ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare63
HP:0002878HP:0002878Respiratory failure0DNAAF4 CL E G H16158221493ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare27
HP:0002878HP:0002878Respiratory failure0DNAAF5 CL E G H5491926013ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare62
HP:0002878HP:0002878Respiratory failure0DNAAF6 CL E G H13921228570ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare
HP:0002878HP:0002878Respiratory failure0DNAH1 CL E G H259812940ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare21
HP:0002878HP:0002878Respiratory failure0DNAH11 CL E G H87012942ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare542
HP:0002878HP:0002878Respiratory failure0DNAH5 CL E G H17672950ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare527
HP:0002878HP:0002878Respiratory failure0DNAH9 CL E G H17702953ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare18
HP:0002878HP:0002878Respiratory failure0DNAI1 CL E G H270192954ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare73
HP:0002878HP:0002878Respiratory failure0DNAI2 CL E G H6444618744ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare104
HP:0002878HP:0002878Respiratory failure0DNAJB13 CL E G H37440730718ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare2
HP:0002878HP:0002878Respiratory failure0DNAL1 CL E G H8354423247ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare167
HP:0002878HP:0002878Respiratory failure0DOK7 CL E G H28548926594ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional91
HP:0002878HP:0002878Respiratory failure0DRC1 CL E G H9274924245ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare44
HP:0002878HP:0002878Respiratory failure0DSP CL E G H18323052ORPHA:158687Lethal acantholytic erosive disorderHP:0040282 - Frequent747
HP:0002878HP:0002878Respiratory failure0DTYMK CL E G H18413061OMIM:619847
HP:0002878HP:0002878Respiratory failure0DZIP1L CL E G H19922126551ORPHA:731Autosomal recessive polycystic kidney diseaseHP:0040282 - Frequent4
HP:0002878HP:0002878Respiratory failure0ECHS1 CL E G H18923151OMIM:616277Mitochondrial short-chain enoyl-coa hydratase 1 deficiency33
HP:0002878HP:0002878Respiratory failure0EPHA4 CL E G H20433388ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent4
HP:0002878HP:0002878Respiratory failure0ERBB3 CL E G H20653431OMIM:607598Lethal congenital contracture syndrome 2.HP:0003593 - Infantile onset12
HP:0002878HP:0002878Respiratory failure0ERBB4 CL E G H20663432ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent15
HP:0002878HP:0002878Respiratory failure0EXOSC3 CL E G H5101017944ORPHA:2254Pontocerebellar hypoplasia type 138
HP:0002878HP:0002878Respiratory failure0EXOSC8 CL E G H1134017035ORPHA:2254Pontocerebellar hypoplasia type 14
HP:0002878HP:0002878Respiratory failure0EXOSC8 CL E G H1134017035OMIM:616081Pontocerebellar hypoplasia, type 1C.4
HP:0002878HP:0002878Respiratory failure0EXOSC9 CL E G H53939137ORPHA:2254Pontocerebellar hypoplasia type 1
HP:0002878HP:0002878Respiratory failure0FAM20C CL E G H5697522140ORPHA:1832Lethal osteosclerotic bone dysplasiaHP:0040282 - Frequent35
HP:0002878HP:0002878Respiratory failure0FARSB CL E G H1005617800OMIM:613658Rajab interstitial lung disease with brain calcifications
HP:0002878HP:0002878Respiratory failure0FIG4 CL E G H989616873ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent111
HP:0002878HP:0002878Respiratory failure0FKRP CL E G H7914717997ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040283 - Occasional157
HP:0002878HP:0002878Respiratory failure0FLNA CL E G H23163754OMIM:304120Otopalatodigital syndrome, type II.493
HP:0002878HP:0002878Respiratory failure0FOXJ1 CL E G H23023816ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare
HP:0002878HP:0002878Respiratory failure0FUS CL E G H25214010ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent105
HP:0002878HP:0002878Respiratory failure0GAA CL E G H25484065ORPHA:308552Glycogen storage disease due to acid maltase deficiency, infantile onsetHP:0040282 - Frequent407
HP:0002878HP:0002878Respiratory failure0GALC CL E G H25814115ORPHA:206436Infantile Krabbe diseaseHP:0040283 - Occasional160
HP:0002878HP:0002878Respiratory failure0GAS2L2 CL E G H24617624846ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare1
HP:0002878HP:0002878Respiratory failure0GAS8 CL E G H26224166ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare9
HP:0002878HP:0002878Respiratory failure0GATA2 CL E G H26244171ORPHA:3226Deafness-lymphedema-leukemia syndromeHP:0040281 - Very frequent137
HP:0002878HP:0002878Respiratory failure0GFRA1 CL E G H26744243OMIM:6198871
HP:0002878HP:0002878Respiratory failure0GLE1 CL E G H27334315ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent45
HP:0002878HP:0002878Respiratory failure0GLE1 CL E G H27334315OMIM:611890Congenital arthrogryposis with anterior horn cell disease.45
HP:0002878HP:0002878Respiratory failure0GLS CL E G H27444331OMIM:618328Epileptic encephalopathy, early infantile, 71.
HP:0002878HP:0002878Respiratory failure0GLT8D1 CL E G H5583024870ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent
HP:0002878HP:0002878Respiratory failure0GMNN CL E G H5105317493ORPHA:2554Ear-patella-short stature syndromeHP:0040282 - Frequent3
HP:0002878HP:0002878Respiratory failure0GMPPB CL E G H2992522932ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040283 - Occasional34
HP:0002878HP:0002878Respiratory failure0GTPBP3 CL E G H8470514880ORPHA:444013Combined oxidative phosphorylation defect type 23HP:0040283 - Occasional30
HP:0002878HP:0002878Respiratory failure0HACD1 CL E G H92009639ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional2
HP:0002878HP:0002878Respiratory failure0HADHA CL E G H30304801OMIM:609015Mitochondrial trifunctional protein deficiency.99
HP:0002878HP:0002878Respiratory failure0HADHA CL E G H30304801ORPHA:746Mitochondrial trifunctional protein deficiencyHP:0040283 - Occasional99
HP:0002878HP:0002878Respiratory failure0HADHB CL E G H30324803OMIM:609015Mitochondrial trifunctional protein deficiency.60
HP:0002878HP:0002878Respiratory failure0HADHB CL E G H30324803ORPHA:746Mitochondrial trifunctional protein deficiencyHP:0040283 - Occasional60
HP:0002878HP:0002878Respiratory failure0HCCS CL E G H30524837ORPHA:2556Microphthalmia with linear skin defects syndromeHP:0040283 - Occasional11
HP:0002878HP:0002878Respiratory failure0HNRNPA1 CL E G H31785031ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent31
HP:0002878HP:0002878Respiratory failure0HRAS CL E G H32655173OMIM:218040Costello syndrome.113
HP:0002878HP:0002878Respiratory failure0HTRA2 CL E G H2742914348OMIM:6172483-methylglutaconic aciduria, type VIII.39
HP:0002878HP:0002878Respiratory failure0HYDIN CL E G H5476819368OMIM:608647Ciliary dyskinesia, primary, 521
HP:0002878HP:0002878Respiratory failure0HYDIN CL E G H5476819368ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare21
HP:0002878HP:0002878Respiratory failure0IBA57 CL E G H20020527302OMIM:615330Multiple mitochondrial dysfunctions syndrome 3.16
HP:0002878HP:0002878Respiratory failure0IFIH1 CL E G H6413518873OMIM:619773IMMUNODEFICIENCY 95; IMD9528
HP:0002878HP:0002878Respiratory failure0IFNG CL E G H34585438ORPHA:805Tuberous sclerosis complexHP:0040284 - Very rare23
HP:0002878HP:0002878Respiratory failure0IFT81 CL E G H2898114313OMIM:617895Short-Rib thoracic dysplasia 19 with or without polydactyly2
HP:0002878HP:0002878Respiratory failure0IGHMBP2 CL E G H35085542OMIM:604320Spinal muscular atrophy, distal, autosomal recessive, 1.209
HP:0002878HP:0002878Respiratory failure0INVS CL E G H2713017870OMIM:602088Nephronophthisis 2.106
HP:0002878HP:0002878Respiratory failure0ITGA7 CL E G H36796143ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional127
HP:0002878HP:0002878Respiratory failure0JUP CL E G H37286207ORPHA:158687Lethal acantholytic erosive disorderHP:0040282 - Frequent222
HP:0002878HP:0002878Respiratory failure0KLHL40 CL E G H13137730372OMIM:615348NEMALINE MYOPATHY 8; NEM828
HP:0002878HP:0002878Respiratory failure0KLHL40 CL E G H13137730372ORPHA:171430Severe congenital nemaline myopathyHP:0040282 - Frequent28
HP:0002878HP:0002878Respiratory failure0KLHL41 CL E G H1032416905ORPHA:171433Intermediate nemaline myopathyHP:0040282 - Frequent13
HP:0002878HP:0002878Respiratory failure0KLHL41 CL E G H1032416905ORPHA:171430Severe congenital nemaline myopathyHP:0040282 - Frequent13
HP:0002878HP:0002878Respiratory failure0LAMA2 CL E G H39086482ORPHA:258Laminin subunit alpha 2-related congenital muscular dystrophyHP:0040281 - Very frequent411
HP:0002878HP:0002878Respiratory failure0LAMA3 CL E G H39096483ORPHA:79404Severe generalized junctional epidermolysis bullosaHP:0040283 - Occasional116
HP:0002878HP:0002878Respiratory failure0LAMB3 CL E G H39146490ORPHA:79404Severe generalized junctional epidermolysis bullosaHP:0040283 - Occasional167
HP:0002878HP:0002878Respiratory failure0LAMC2 CL E G H39186493ORPHA:79404Severe generalized junctional epidermolysis bullosaHP:0040283 - Occasional135
HP:0002878HP:0002878Respiratory failure0LARGE1 CL E G H92156511ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040283 - Occasional136
HP:0002878HP:0002878Respiratory failure0LBX1 CL E G H1066016960OMIM:619483CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 3; CCHS3
HP:0002878HP:0002878Respiratory failure0LMOD3 CL E G H562036649ORPHA:171430Severe congenital nemaline myopathyHP:0040282 - Frequent11
HP:0002878HP:0002878Respiratory failure0LRP4 CL E G H40386696ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional124
HP:0002878HP:0002878Respiratory failure0LRPPRC CL E G H1012815714ORPHA:70472Congenital lactic acidosis, Saguenay-Lac-Saint-Jean typeHP:0040283 - Occasional191
HP:0002878HP:0002878Respiratory failure0LRRC56 CL E G H11539925430ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare
HP:0002878HP:0002878Respiratory failure0LTBP3 CL E G H40546716OMIM:617809Geleophysic dysplasia 3.12
HP:0002878HP:0002878Respiratory failure0LYRM7 CL E G H9062428072OMIM:615838Mitochondrial complex III deficiency, nuclear type 8.10
HP:0002878HP:0002878Respiratory failure0MAP3K20 CL E G H5177617797ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional2
HP:0002878HP:0002878Respiratory failure0MATR3 CL E G H97826912ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent80
HP:0002878HP:0002878Respiratory failure0MCIDAS CL E G H34564340050ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare13
HP:0002878HP:0002878Respiratory failure0MCM4 CL E G H41736947OMIM:609981Immunodeficiency 54HP:0040283 - Occasional69
HP:0002878HP:0002878Respiratory failure0MEG3 CL E G H5538414575ORPHA:254528Kagami-Ogata syndrome due to maternal 14q32.2 microdeletionHP:0040282 - Frequent1
HP:0002878HP:0002878Respiratory failure0MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040282 - Frequent1
HP:0002878HP:0002878Respiratory failure0MEGF10 CL E G H8446629634OMIM:614399Myopathy, areflexia, respiratory distress, and dysphagia, early-onset.158
HP:0002878HP:0002878Respiratory failure0MGME1 CL E G H9266716205ORPHA:352447Progressive external ophthalmoplegia-myopathy-emaciation syndromeHP:0040282 - Frequent11
HP:0002878HP:0002878Respiratory failure0MICOS13 CL E G H12598833702OMIM:618329COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0002878HP:0002878Respiratory failure0MTTP CL E G H45477467ORPHA:14AbetalipoproteinemiaHP:0040284 - Very rare81
HP:0002878HP:0002878Respiratory failure0MUSK CL E G H45937525ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional72
HP:0002878HP:0002878Respiratory failure0MYL1 CL E G H46327582OMIM:618414Myopathy, congenital, with fast-twitch (type ii) fiber atrophy
HP:0002878HP:0002878Respiratory failure0MYL2 CL E G H46337583ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional131
HP:0002878HP:0002878Respiratory failure0MYOT CL E G H949912399ORPHA:266Autosomal dominant limb-girdle muscular dystrophy type 1AHP:0040283 - Occasional75
HP:0002878HP:0002878Respiratory failure0NAXE CL E G H12824018453OMIM:617186Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1.9
HP:0002878HP:0002878Respiratory failure0NBN CL E G H46837652ORPHA:647Nijmegen breakage syndromeHP:0040283 - Occasional706
HP:0002878HP:0002878Respiratory failure0NDUFAF2 CL E G H9194228086OMIM:618233Mitochondrial complex I deficiency, nuclear type 10.26
HP:0002878HP:0002878Respiratory failure0NDUFAF3 CL E G H2591529918ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040282 - Frequent31
HP:0002878HP:0002878Respiratory failure0NDUFAF3 CL E G H2591529918OMIM:618240Mitochondrial complex I deficiency, nuclear type 18.31
HP:0002878HP:0002878Respiratory failure0NDUFB11 CL E G H5453920372ORPHA:2556Microphthalmia with linear skin defects syndromeHP:0040283 - Occasional3
HP:0002878HP:0002878Respiratory failure0NDUFB11 CL E G H5453920372OMIM:301021Mitochondrial complex I deficiency, nuclear type 30.3
HP:0002878HP:0002878Respiratory failure0NDUFB8 CL E G H47147703ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040282 - Frequent
HP:0002878HP:0002878Respiratory failure0NDUFS2 CL E G H47207708ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040282 - Frequent65
HP:0002878HP:0002878Respiratory failure0NDUFS4 CL E G H47247711OMIM:252010Mitochondrial complex I deficiency, nuclear type 127
HP:0002878HP:0002878Respiratory failure0NEB CL E G H47037720OMIM:619334ARTHROGRYPOSIS MULTIPLEX CONGENITA 6; AMC6745
HP:0002878HP:0002878Respiratory failure0NEB CL E G H47037720ORPHA:171433Intermediate nemaline myopathyHP:0040282 - Frequent745
HP:0002878HP:0002878Respiratory failure0NEB CL E G H47037720ORPHA:171430Severe congenital nemaline myopathyHP:0040282 - Frequent745
HP:0002878HP:0002878Respiratory failure0NEFH CL E G H47447737ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent24
HP:0002878HP:0002878Respiratory failure0NEK1 CL E G H47507744ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent101
HP:0002878HP:0002878Respiratory failure0NEK10 CL E G H15211018592ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare
HP:0002878HP:0002878Respiratory failure0NFS1 CL E G H905415910OMIM:619386COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD525
HP:0002878HP:0002878Respiratory failure0NFU1 CL E G H2724716287OMIM:605711Multiple mitochondrial dysfunctions syndrome 1.34
HP:0002878HP:0002878Respiratory failure0NHLRC2 CL E G H37435424731OMIM:618278Fibrosis, neurodegeneration, and cerebral angiomatosis
HP:0002878HP:0002878Respiratory failure0NKX2-1 CL E G H708011825ORPHA:209905Brain-lung-thyroid syndromeHP:0040284 - Very rare51
HP:0002878HP:0002878Respiratory failure0NME8 CL E G H5131416473ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare50
HP:0002878HP:0002878Respiratory failure0NPC2 CL E G H1057714537OMIM:607625Niemann-pick disease, type C2.33
HP:0002878HP:0002878Respiratory failure0NUP188 CL E G H2351117859OMIM:618804SANDESTIG-STEFANOVA SYNDROME; SANDSTEF4
HP:0002878HP:0002878Respiratory failure0NUTM2B-AS1 CL E G H10106069151204OMIM:618637OCULOPHARYNGEAL MYOPATHY WITH LEUKOENCEPHALOPATHY 1; OPML1
HP:0002878HP:0002878Respiratory failure0ODAD1 CL E G H9323326560ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare
HP:0002878HP:0002878Respiratory failure0ODAD2 CL E G H5513025583ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare
HP:0002878HP:0002878Respiratory failure0ODAD3 CL E G H11594828303ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare
HP:0002878HP:0002878Respiratory failure0ODAD4 CL E G H8353825280ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare
HP:0002878HP:0002878Respiratory failure0OFD1 CL E G H84812567ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare201
HP:0002878HP:0002878Respiratory failure0OPTN CL E G H1013317142ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent62
HP:0002878HP:0002878Respiratory failure0OPTN CL E G H1013317142OMIM:613435Amyotrophic lateral sclerosis 1262
HP:0002878HP:0002878Respiratory failure0ORC1 CL E G H49988487ORPHA:2554Ear-patella-short stature syndromeHP:0040282 - Frequent53
HP:0002878HP:0002878Respiratory failure0ORC4 CL E G H50008490ORPHA:2554Ear-patella-short stature syndromeHP:0040282 - Frequent21
HP:0002878HP:0002878Respiratory failure0ORC6 CL E G H2359417151ORPHA:2554Ear-patella-short stature syndromeHP:0040282 - Frequent39
HP:0002878HP:0002878Respiratory failure0OSTM1 CL E G H2896221652OMIM:259720Osteopetrosis, autosomal recessive 5.73
HP:0002878HP:0002878Respiratory failure0PDHA1 CL E G H51608806OMIM:312170Pyruvate dehydrogenase e1-alpha deficiency88
HP:0002878HP:0002878Respiratory failure0PEX6 CL E G H51908859OMIM:614862Peroxisome biogenesis disorder 4A (Zellweger).98
HP:0002878HP:0002878Respiratory failure0PFN1 CL E G H52168881ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent6
HP:0002878HP:0002878Respiratory failure0PIGA CL E G H52778957OMIM:300868Multiple congenital anomalies-hypotonia-seizures syndrome 246
HP:0002878HP:0002878Respiratory failure0PKHD1 CL E G H53149016ORPHA:731Autosomal recessive polycystic kidney diseaseHP:0040282 - Frequent563
HP:0002878HP:0002878Respiratory failure0PLP1 CL E G H53549086ORPHA:280210Pelizaeus-Merzbacher disease, connatal formHP:0040283 - Occasional60
HP:0002878HP:0002878Respiratory failure0POMT1 CL E G H105859202ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040283 - Occasional213
HP:0002878HP:0002878Respiratory failure0POMT2 CL E G H2995419743ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040283 - Occasional221
HP:0002878HP:0002878Respiratory failure0PON1 CL E G H54449204ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent4
HP:0002878HP:0002878Respiratory failure0PON2 CL E G H54459205ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent2
HP:0002878HP:0002878Respiratory failure0PON3 CL E G H54469206ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent1
HP:0002878HP:0002878Respiratory failure0PPARGC1A CL E G H108919237ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent1
HP:0002878HP:0002878Respiratory failure0PRPH CL E G H56309461ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent25
HP:0002878HP:0002878Respiratory failure0PSAP CL E G H56609498ORPHA:206436Infantile Krabbe diseaseHP:0040283 - Occasional81
HP:0002878HP:0002878Respiratory failure0PSAP CL E G H56609498OMIM:611722KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY81
HP:0002878HP:0002878Respiratory failure0PTCD3 CL E G H5503724717OMIM:619057COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51; COXPD51
HP:0002878HP:0002878Respiratory failure0RAPSN CL E G H59139863ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional73
HP:0002878HP:0002878Respiratory failure0RNF168 CL E G H16591826661ORPHA:420741RIDDLE syndromeHP:0040283 - Occasional7
HP:0002878HP:0002878Respiratory failure0RNU4ATAC CL E G H10015168334016ORPHA:2636Microcephalic osteodysplastic primordial dwarfism types I and IIIHP:0040281 - Very frequent15
HP:0002878HP:0002878Respiratory failure0RPGR CL E G H610310295ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare200
HP:0002878HP:0002878Respiratory failure0RSPH1 CL E G H8976512371ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare31
HP:0002878HP:0002878Respiratory failure0RSPH3 CL E G H8386121054ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare5
HP:0002878HP:0002878Respiratory failure0RSPH4A CL E G H34589521558ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare58
HP:0002878HP:0002878Respiratory failure0RSPH9 CL E G H22142121057ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare20
HP:0002878HP:0002878Respiratory failure0RTL1 CL E G H38801514665ORPHA:254528Kagami-Ogata syndrome due to maternal 14q32.2 microdeletionHP:0040282 - Frequent
HP:0002878HP:0002878Respiratory failure0RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040282 - Frequent
HP:0002878HP:0002878Respiratory failure0RYR1 CL E G H626110483ORPHA:98905Congenital multicore myopathy with external ophthalmoplegiaHP:0040283 - Occasional1200
HP:0002878HP:0002878Respiratory failure0SARS2 CL E G H5493817697OMIM:613845Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome.60
HP:0002878HP:0002878Respiratory failure0SCN4A CL E G H632910591ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional263
HP:0002878HP:0002878Respiratory failure0SCO2 CL E G H999710604ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040282 - Frequent40
HP:0002878HP:0002878Respiratory failure0SELENON CL E G H5719015999ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional144
HP:0002878HP:0002878Respiratory failure0SFTPB CL E G H643910801ORPHA:70587Infant acute respiratory distress syndromeHP:0040282 - Frequent51
HP:0002878HP:0002878Respiratory failure0SFTPB CL E G H643910801OMIM:265120Surfactant metabolism dysfunction, pulmonary, 1.HP:0003623 - Neonatal onset51
HP:0002878HP:0002878Respiratory failure0SFTPC CL E G H644010802ORPHA:70587Infant acute respiratory distress syndromeHP:0040282 - Frequent33
HP:0002878HP:0002878Respiratory failure0SFTPC CL E G H644010802OMIM:610913Surfactant metabolism dysfunction, pulmonary, 233
HP:0002878HP:0002878Respiratory failure0SLC25A26 CL E G H11528620661OMIM:616794Combined oxidative phosphorylation deficiency 285
HP:0002878HP:0002878Respiratory failure0SLC25A46 CL E G H9113725198OMIM:616505Neuropathy, hereditary motor and sensory, type VIBHP:0040284 - Very rare14
HP:0002878HP:0002878Respiratory failure0SLC25A46 CL E G H9113725198ORPHA:2254Pontocerebellar hypoplasia type 114
HP:0002878HP:0002878Respiratory failure0SLC2A10 CL E G H8103113444ORPHA:3342Arterial tortuosity syndromeHP:0040283 - Occasional178
HP:0002878HP:0002878Respiratory failure0SLC34A2 CL E G H1056811020ORPHA:60025Pulmonary alveolar microlithiasisHP:0040284 - Very rare7
HP:0002878HP:0002878Respiratory failure0SLC6A9 CL E G H653611056OMIM:617301Glycine encephalopathy with normal serum glycine4
HP:0002878HP:0002878Respiratory failure0SMAD4 CL E G H40896770OMIM:139210Myhre syndromeHP:0040283 - Occasional504
HP:0002878HP:0002878Respiratory failure0SMN1 CL E G H660611117OMIM:253300Spinal muscular atrophy, type I.22
HP:0002878HP:0002878Respiratory failure0SOD1 CL E G H664711179ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent53
HP:0002878HP:0002878Respiratory failure0SON CL E G H665111183ORPHA:500150Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndromeHP:0040283 - Occasional12
HP:0002878HP:0002878Respiratory failure0SPAG1 CL E G H667411212ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare45
HP:0002878HP:0002878Respiratory failure0SPEF2 CL E G H7992526293ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare15
HP:0002878HP:0002878Respiratory failure0SQSTM1 CL E G H887811280ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent62
HP:0002878HP:0002878Respiratory failure0STK36 CL E G H2714817209ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare3
HP:0002878HP:0002878Respiratory failure0SUCLG1 CL E G H880211449OMIM:245400Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)60
HP:0002878HP:0002878Respiratory failure0SURF1 CL E G H683411474ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040282 - Frequent73
HP:0002878HP:0002878Respiratory failure0SURF1 CL E G H683411474OMIM:220110Mitochondrial complex IV deficiency73
HP:0002878HP:0002878Respiratory failure0TAF15 CL E G H814811547ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent
HP:0002878HP:0002878Respiratory failure0TARDBP CL E G H2343511571ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent65
HP:0002878HP:0002878Respiratory failure0TBCD CL E G H690411581ORPHA:496641Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndromeHP:0040282 - Frequent16
HP:0002878HP:0002878Respiratory failure0TBK1 CL E G H2911011584ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent20
HP:0002878HP:0002878Respiratory failure0TFG CL E G H1034211758ORPHA:90117Hereditary motor and sensory neuropathy, Okinawa typeHP:0040283 - Occasional18
HP:0002878HP:0002878Respiratory failure0TK2 CL E G H708411831ORPHA:254875Mitochondrial DNA depletion syndrome, myopathic formHP:0040282 - Frequent103
HP:0002878HP:0002878Respiratory failure0TMEM70 CL E G H5496826050ORPHA:1194TMEM70-related mitochondrial encephalo-cardio-myopathyHP:0040282 - Frequent63
HP:0002878HP:0002878Respiratory failure0TPI1 CL E G H716712009OMIM:615512Triosephosphate isomerase deficiency28
HP:0002878HP:0002878Respiratory failure0TPM2 CL E G H716912011ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional54
HP:0002878HP:0002878Respiratory failure0TPM3 CL E G H717012012ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional108
HP:0002878HP:0002878Respiratory failure0TPM3 CL E G H717012012ORPHA:171433Intermediate nemaline myopathyHP:0040282 - Frequent108
HP:0002878HP:0002878Respiratory failure0TREM2 CL E G H5420917761ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent31
HP:0002878HP:0002878Respiratory failure0TRNN CL E G H45707493OMIM:220110Mitochondrial complex IV deficiency
HP:0002878HP:0002878Respiratory failure0TRNS1 CL E G H45747497OMIM:220110Mitochondrial complex IV deficiency
HP:0002878HP:0002878Respiratory failure0TRPV4 CL E G H5934118083OMIM:606071Hereditary motor and sensory neuropathy, type IIC.214
HP:0002878HP:0002878Respiratory failure0TRPV4 CL E G H5934118083OMIM:156530Metatropic dysplasia.214
HP:0002878HP:0002878Respiratory failure0TSC1 CL E G H724812362ORPHA:805Tuberous sclerosis complexHP:0040284 - Very rare1090
HP:0002878HP:0002878Respiratory failure0TSC2 CL E G H724912363ORPHA:805Tuberous sclerosis complexHP:0040284 - Very rare2738
HP:0002878HP:0002878Respiratory failure0TSEN54 CL E G H28398927561OMIM:225753Pontocerebellar hypoplasia, type 4.102
HP:0002878HP:0002878Respiratory failure0TSFM CL E G H1010212367OMIM:610505Combined oxidative phosphorylation deficiency 3.43
HP:0002878HP:0002878Respiratory failure0TTC12 CL E G H5497023700ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare
HP:0002878HP:0002878Respiratory failure0TTN CL E G H727312403OMIM:603689Myopathy, myofibrillar, 9, with early respiratory failure.7128
HP:0002878HP:0002878Respiratory failure0TUFM CL E G H728412420OMIM:610678Combined oxidative phosphorylation deficiency 4.55
HP:0002878HP:0002878Respiratory failure0UBE3B CL E G H8991013478ORPHA:2707Oculocerebrofacial syndrome, Kaufman typeHP:0040281 - Very frequent13
HP:0002878HP:0002878Respiratory failure0UBQLN2 CL E G H2997812509ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent20
HP:0002878HP:0002878Respiratory failure0UNC13A CL E G H2302523150ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent1
HP:0002878HP:0002878Respiratory failure0VAPB CL E G H921712649ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent116
HP:0002878HP:0002878Respiratory failure0VCP CL E G H741512666ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent63
HP:0002878HP:0002878Respiratory failure0VCP CL E G H741512666OMIM:613954Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia63
HP:0002878HP:0002878Respiratory failure0VRK1 CL E G H744312718ORPHA:2254Pontocerebellar hypoplasia type 132
HP:0002878HP:0002878Respiratory failure0ZMYND10 CL E G H5136419412ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare20


Genes (248) :ABCA3 ACTA1 ACVR1 AGRN AGTPBP1 AHCY AK9 ALG1 ANG ANXA11 ASAH1 ASCC1 ATAD1 ATXN1 ATXN2 BCHE BICD2 BLM BOLA3 BSCL2 C9ORF72 CCDC103 CCDC39 CCDC40 CCDC65 CCNF CCNO CDC45 CDC6 CDT1 CFAP221 CFAP298 CFAP300 CFAP410 CHCHD10 CHMP2B CHRNA1 CHRNB1 CHRND CHRNE CLPB COL12A1 COL13A1 COL6A1 COL6A2 COL6A3 COX7B CPT2 CRYAB CTSD DAG1 DAO DCTN1 DLK1 DMD DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB13 DNAL1 DOK7 DRC1 DSP DTYMK DZIP1L ECHS1 EPHA4 ERBB3 ERBB4 EXOSC3 EXOSC8 EXOSC9 FAM20C FARSB FIG4 FKRP FLNA FOXJ1 FUS GAA GALC GAS2L2 GAS8 GATA2 GFRA1 GLE1 GLS GLT8D1 GMNN GMPPB GTPBP3 HACD1 HADHA HADHB HCCS HNRNPA1 HRAS HTRA2 HYDIN IBA57 IFIH1 IFNG IFT81 IGHMBP2 INVS ITGA7 JUP KLHL40 KLHL41 LAMA2 LAMA3 LAMB3 LAMC2 LARGE1 LBX1 LMOD3 LRP4 LRPPRC LRRC56 LTBP3 LYRM7 MAP3K20 MATR3 MCIDAS MCM4 MEG3 MEGF10 MGME1 MICOS13 MTTP MUSK MYL1 MYL2 MYOT NAXE NBN NDUFAF2 NDUFAF3 NDUFB11 NDUFB8 NDUFS2 NDUFS4 NEB NEFH NEK1 NEK10 NFS1 NFU1 NHLRC2 NKX2-1 NME8 NPC2 NUP188 NUTM2B-AS1 ODAD1 ODAD2 ODAD3 ODAD4 OFD1 OPTN ORC1 ORC4 ORC6 OSTM1 PDHA1 PEX6 PFN1 PIGA PKHD1 PLP1 POMT1 POMT2 PON1 PON2 PON3 PPARGC1A PRPH PSAP PTCD3 RAPSN RNF168 RNU4ATAC RPGR RSPH1 RSPH3 RSPH4A RSPH9 RTL1 RYR1 SARS2 SCN4A SCO2 SELENON SFTPB SFTPC SLC25A26 SLC25A46 SLC2A10 SLC34A2 SLC6A9 SMAD4 SMN1 SOD1 SON SPAG1 SPEF2 SQSTM1 STK36 SUCLG1 SURF1 TAF15 TARDBP TBCD TBK1 TFG TK2 TMEM70 TPI1 TPM2 TPM3 TREM2 TRNN TRNS1 TRPV4 TSC1 TSC2 TSEN54 TSFM TTC12 TTN TUFM UBE3B UBQLN2 UNC13A VAPB VCP VRK1 ZMYND10

Diseases (126) :ORPHA:70587 OMIM:610921 ORPHA:2020 ORPHA:171433 ORPHA:171430 OMIM:135100 ORPHA:98913 ORPHA:2254 ORPHA:88618 ORPHA:79327 ORPHA:803 ORPHA:2590 OMIM:616867 OMIM:618011 ORPHA:98755 ORPHA:132 OMIM:618291 ORPHA:125 OMIM:614299 ORPHA:363400 ORPHA:244 ORPHA:2554 ORPHA:445038 ORPHA:75840 ORPHA:2556 OMIM:608836 OMIM:613869 OMIM:610127 OMIM:616538 ORPHA:254528 ORPHA:96334 OMIM:310200 ORPHA:158687 OMIM:619847 ORPHA:731 OMIM:616277 OMIM:607598 OMIM:616081 ORPHA:1832 OMIM:613658 ORPHA:370968 OMIM:304120 ORPHA:308552 ORPHA:206436 ORPHA:3226 OMIM:619887 OMIM:611890 OMIM:618328 ORPHA:444013 OMIM:609015 ORPHA:746 OMIM:218040 OMIM:617248 OMIM:608647 OMIM:615330 OMIM:619773 ORPHA:805 OMIM:617895 OMIM:604320 OMIM:602088 OMIM:615348 ORPHA:258 ORPHA:79404 OMIM:619483 ORPHA:70472 OMIM:617809 OMIM:615838 OMIM:609981 OMIM:614399 ORPHA:352447 OMIM:618329 ORPHA:14 OMIM:618414 ORPHA:266 OMIM:617186 ORPHA:647 OMIM:618233 ORPHA:70474 OMIM:618240 OMIM:301021 OMIM:252010 OMIM:619334 OMIM:619386 OMIM:605711 OMIM:618278 ORPHA:209905 OMIM:607625 OMIM:618804 OMIM:618637 OMIM:613435 OMIM:259720 OMIM:312170 OMIM:614862 OMIM:300868 ORPHA:280210 OMIM:611722 OMIM:619057 ORPHA:420741 ORPHA:2636 ORPHA:98905 OMIM:613845 OMIM:265120 OMIM:610913 OMIM:616794 OMIM:616505 ORPHA:3342 ORPHA:60025 OMIM:617301 OMIM:139210 OMIM:253300 ORPHA:500150 OMIM:245400 OMIM:220110 ORPHA:496641 ORPHA:90117 ORPHA:254875 ORPHA:1194 OMIM:615512 OMIM:606071 OMIM:156530 OMIM:225753 OMIM:610505 OMIM:603689 OMIM:610678 ORPHA:2707 OMIM:613954
 

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