Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the respiratory system (HP:0002086)help
Parent Node:
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Abnormal respiratory system physiology (HP:0002795)help
..Starting node
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Abnormal pattern of respiration (HP:0002793)help
Term ID: 2793
Name: Abnormal pattern of respiration
Synonym: Abnormal pattern of respiration; Abnormal respiratory patterns; Unusual breathing patterns
Definition: An anomaly of the rhythm or depth of breathing.
Comments:
Reference: HP:0002793
Genes and Diseases:
 
       Child Nodes:
........expandApnea (HP:0002104) help
................... HP:0002871 Central apnea
................... HP:0002872 Apneic episodes precipitated by illness, fatigue, stress
................... HP:0002882 Sudden episodic apnea
................... HP:0005949 Apneic episodes in infancy
................... HP:0010535 Sleep apnea
........expandTachypnea (HP:0002789) help
................... HP:0002876 Episodic tachypnea
........expandHypoventilation (HP:0002791) help
................... HP:0002877 Nocturnal hypoventilation
................... HP:0004881 Episodic hypoventilation
................... HP:0007110 Central hypoventilation
........expandHyperventilation (HP:0002883) help
................... HP:0004879 Intermittent hyperventilation
........expandIrregular respiration (HP:0012195) help
........expandCheyne-Stokes respiration (HP:0012196) help
........expandParadoxical respiration (HP:0030207) help
........expandNight gasping (HP:0031503) help
........expandHypopnea (HP:0040213) 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 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
..expandRespiratory insufficiency (HP:0002093) help
..expandRestrictive ventilatory defect (HP:0002091) help
..expandSneeze (HP:0025095) help
..expandSnoring (HP:0025267) help
..expandTracheal tug on inspiration (HP:0025008) help
..expandUpper airway obstruction (HP:0002781) help
..expandWeakness of muscles of respiration (HP:0004347) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002793HP:0002793Abnormal pattern of respiration0AARS1 CL E G H1620OMIM:619661LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS 2; HDLS2
HP:0002793HP:0002793Abnormal pattern of respiration0ABCA3 CL E G H2133ORPHA:2032Idiopathic pulmonary fibrosis147
HP:0002793HP:0002793Abnormal pattern of respiration0ABCA3 CL E G H2133ORPHA:70587Infant acute respiratory distress syndrome147
HP:0002793HP:0002793Abnormal pattern of respiration0ABCA3 CL E G H2133OMIM:610921Surfactant metabolism dysfunction, pulmonary, 3147
HP:0002793HP:0002793Abnormal pattern of respiration0ABCC6 CL E G H36857ORPHA:51608Generalized arterial calcification of infancy415
HP:0002793HP:0002793Abnormal pattern of respiration0ABCC9 CL E G H1006060OMIM:619719INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS254
HP:0002793HP:0002793Abnormal pattern of respiration0ABCD4 CL E G H582668OMIM:614857Methylmalonic aciduria and homocystinuria, Cblj type53
HP:0002793HP:0002793Abnormal pattern of respiration0ABCG5 CL E G H6424013886ORPHA:391665Homozygous familial hypercholesterolemia67
HP:0002793HP:0002793Abnormal pattern of respiration0ABCG8 CL E G H6424113887ORPHA:391665Homozygous familial hypercholesterolemia76
HP:0002793HP:0002793Abnormal pattern of respiration0ACADM CL E G H3489ORPHA:42Medium chain acyl-CoA dehydrogenase deficiency197
HP:0002793HP:0002793Abnormal pattern of respiration0ACADS CL E G H3590ORPHA:26792Short chain acyl-CoA dehydrogenase deficiency90
HP:0002793HP:0002793Abnormal pattern of respiration0ACADSB CL E G H3691OMIM:6100062-Methylbutyryl-Coa dehydrogenase deficiency111
HP:0002793HP:0002793Abnormal pattern of respiration0ACADVL CL E G H3792ORPHA:26793Very long chain acyl-CoA dehydrogenase deficiency200
HP:0002793HP:0002793Abnormal pattern of respiration0ACADVL CL E G H3792OMIM:201475Very long-chain acyl-CoA dehydrogenase deficiency200
HP:0002793HP:0002793Abnormal pattern of respiration0ACAT1 CL E G H3893ORPHA:134Beta-ketothiolase deficiency91
HP:0002793HP:0002793Abnormal pattern of respiration0ACTA1 CL E G H58129ORPHA:171436Typical nemaline myopathy96
HP:0002793HP:0002793Abnormal pattern of respiration0ACTA2 CL E G H59130ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection94
HP:0002793HP:0002793Abnormal pattern of respiration0ACTA2 CL E G H59130OMIM:613834Multisystemic smooth muscle dysfunction syndrome94
HP:0002793HP:0002793Abnormal pattern of respiration0ACTC1 CL E G H70143ORPHA:99103Atrial septal defect, ostium secundum type208
HP:0002793HP:0002793Abnormal pattern of respiration0ACTC1 CL E G H70143OMIM:612098Cardiomyopathy, familial hypertrophic, 11208
HP:0002793HP:0002793Abnormal pattern of respiration0ACVRL1 CL E G H94175OMIM:600376Telangiectasia, hereditary hemorrhagic, type 2178
HP:0002793HP:0002793Abnormal pattern of respiration0ACY1 CL E G H95177ORPHA:137754Neurological conditions associated with aminoacylase 1 deficiency13
HP:0002793HP:0002793Abnormal pattern of respiration0ADAM22 CL E G H53616201OMIM:617933Epileptic encephalopathy, early infantile, 61
HP:0002793HP:0002793Abnormal pattern of respiration0ADAMTS13 CL E G H110931366OMIM:274150Thrombotic thrombocytopenic purpura, hereditary129
HP:0002793HP:0002793Abnormal pattern of respiration0ADCY6 CL E G H112237ORPHA:2680Hypomyelination neuropathy-arthrogryposis syndrome2
HP:0002793HP:0002793Abnormal pattern of respiration0ADGRG1 CL E G H92894512ORPHA:98889Bilateral perisylvian polymicrogyria88
HP:0002793HP:0002793Abnormal pattern of respiration0ADNP CL E G H2339415766ORPHA:404448ADNP syndrome47
HP:0002793HP:0002793Abnormal pattern of respiration0AFF4 CL E G H2712517869OMIM:616368CHOPS syndrome6
HP:0002793HP:0002793Abnormal pattern of respiration0AFF4 CL E G H2712517869ORPHA:444077Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome6
HP:0002793HP:0002793Abnormal pattern of respiration0AGO2 CL E G H271613263OMIM:619149LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0002793HP:0002793Abnormal pattern of respiration0AGRN CL E G H375790329ORPHA:98913Postsynaptic congenital myasthenic syndromes127
HP:0002793HP:0002793Abnormal pattern of respiration0AGRN CL E G H375790329ORPHA:98914Presynaptic congenital myasthenic syndromes127
HP:0002793HP:0002793Abnormal pattern of respiration0AHDC1 CL E G H2724525230ORPHA:412069AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome36
HP:0002793HP:0002793Abnormal pattern of respiration0AHDC1 CL E G H2724525230OMIM:615829Xia-Gibbs syndrome36
HP:0002793HP:0002793Abnormal pattern of respiration0AHI1 CL E G H5480621575ORPHA:475Joubert syndromeHP:0040281 - Very frequent175
HP:0002793HP:0002793Abnormal pattern of respiration0AHI1 CL E G H5480621575OMIM:608629Joubert syndrome 3175
HP:0002793HP:0002793Abnormal pattern of respiration0AHI1 CL E G H5480621575ORPHA:220493Joubert syndrome with ocular defectHP:0040281 - Very frequent175
HP:0002793HP:0002793Abnormal pattern of respiration0AIFM1 CL E G H91318768ORPHA:238329Severe X-linked mitochondrial encephalomyopathy60
HP:0002793HP:0002793Abnormal pattern of respiration0AIP CL E G H9049358ORPHA:963Acromegaly95
HP:0002793HP:0002793Abnormal pattern of respiration0AK9 CL E G H22126433814ORPHA:98913Postsynaptic congenital myasthenic syndromes1
HP:0002793HP:0002793Abnormal pattern of respiration0ALAS2 CL E G H212397ORPHA:75563X-linked sideroblastic anemia72
HP:0002793HP:0002793Abnormal pattern of respiration0ALMS1 CL E G H7840428ORPHA:64Alström syndrome404
HP:0002793HP:0002793Abnormal pattern of respiration0ALPL CL E G H249438OMIM:241500Hypophosphatasia, infantile126
HP:0002793HP:0002793Abnormal pattern of respiration0AMER1 CL E G H13928526837OMIM:300373Osteopathia striata with cranial sclerosis34
HP:0002793HP:0002793Abnormal pattern of respiration0ANG CL E G H283483ORPHA:803Amyotrophic lateral sclerosis32
HP:0002793HP:0002793Abnormal pattern of respiration0ANXA11 CL E G H311535ORPHA:803Amyotrophic lateral sclerosis
HP:0002793HP:0002793Abnormal pattern of respiration0AP3D1 CL E G H8943568OMIM:617050HERMANSKY-PUDLAK SYNDROME 10; HPS101
HP:0002793HP:0002793Abnormal pattern of respiration0APOB CL E G H338603ORPHA:391665Homozygous familial hypercholesterolemia356
HP:0002793HP:0002793Abnormal pattern of respiration0ARCN1 CL E G H372649OMIM:617164Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay3
HP:0002793HP:0002793Abnormal pattern of respiration0ARL13B CL E G H20089425419ORPHA:475Joubert syndromeHP:0040281 - Very frequent62
HP:0002793HP:0002793Abnormal pattern of respiration0ARL13B CL E G H20089425419OMIM:612291JOUBERT SYNDROME 8; JBTS862
HP:0002793HP:0002793Abnormal pattern of respiration0ARL3 CL E G H403694ORPHA:475Joubert syndromeHP:0040281 - Very frequent1
HP:0002793HP:0002793Abnormal pattern of respiration0ARL3 CL E G H403694OMIM:618161JOUBERT SYNDROME 35; JBTS351
HP:0002793HP:0002793Abnormal pattern of respiration0ARMC9 CL E G H8021020730ORPHA:475Joubert syndromeHP:0040281 - Very frequent
HP:0002793HP:0002793Abnormal pattern of respiration0ARMC9 CL E G H8021020730OMIM:617622JOUBERT SYNDROME 30; JBTS30
HP:0002793HP:0002793Abnormal pattern of respiration0ARSB CL E G H411714OMIM:253200Mucopolysaccharidosis, type VI120
HP:0002793HP:0002793Abnormal pattern of respiration0ARSL CL E G H415719ORPHA:79345Brachytelephalangic chondrodysplasia punctata
HP:0002793HP:0002793Abnormal pattern of respiration0ARX CL E G H17030218060OMIM:308350Developmental and epileptic encephalopathy 1166
HP:0002793HP:0002793Abnormal pattern of respiration0ASAH1 CL E G H427735ORPHA:333Farber disease78
HP:0002793HP:0002793Abnormal pattern of respiration0ASCL1 CL E G H429738ORPHA:99803Haddad syndrome15
HP:0002793HP:0002793Abnormal pattern of respiration0ASXL1 CL E G H17102318318ORPHA:97297Bohring-Opitz syndrome145
HP:0002793HP:0002793Abnormal pattern of respiration0ATN1 CL E G H18223033OMIM:618494Congenital hypotonia, epilepsy, developmental delay, and digital anomalies16
HP:0002793HP:0002793Abnormal pattern of respiration0ATP11A CL E G H2325013552ORPHA:2032Idiopathic pulmonary fibrosis
HP:0002793HP:0002793Abnormal pattern of respiration0ATP13A3 CL E G H7957224113OMIM:265400Pulmonary hypertension, primary, autosomal recessive
HP:0002793HP:0002793Abnormal pattern of respiration0ATP1A2 CL E G H477800ORPHA:2131Alternating hemiplegia of childhood239
HP:0002793HP:0002793Abnormal pattern of respiration0ATP1A2 CL E G H477800OMIM:619605DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98; DEE98239
HP:0002793HP:0002793Abnormal pattern of respiration0ATP1A3 CL E G H478801ORPHA:2131Alternating hemiplegia of childhood150
HP:0002793HP:0002793Abnormal pattern of respiration0ATP1A3 CL E G H478801OMIM:619606DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99150
HP:0002793HP:0002793Abnormal pattern of respiration0ATP5F1A CL E G H498823OMIM:615228Mitochondrial complex V (atp synthase) deficiency, nuclear type 4
HP:0002793HP:0002793Abnormal pattern of respiration0ATP6 CL E G H45087414ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0002793HP:0002793Abnormal pattern of respiration0ATP6V1B2 CL E G H526854ORPHA:79500DOORS syndrome5
HP:0002793HP:0002793Abnormal pattern of respiration0ATRX CL E G H546886ORPHA:231401Alpha-thalassemia-myelodysplastic syndrome169
HP:0002793HP:0002793Abnormal pattern of respiration0ATXN2 CL E G H631110555ORPHA:803Amyotrophic lateral sclerosis11
HP:0002793HP:0002793Abnormal pattern of respiration0B3GALT6 CL E G H12679217978ORPHA:536467B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome38
HP:0002793HP:0002793Abnormal pattern of respiration0B9D1 CL E G H2707724123ORPHA:475Joubert syndromeHP:0040281 - Very frequent28
HP:0002793HP:0002793Abnormal pattern of respiration0B9D2 CL E G H8077628636ORPHA:475Joubert syndromeHP:0040281 - Very frequent34
HP:0002793HP:0002793Abnormal pattern of respiration0BANF1 CL E G H881517397OMIM:614008Nestor-Guillermo progeria syndrome22
HP:0002793HP:0002793Abnormal pattern of respiration0BAP1 CL E G H8314950ORPHA:50251Pleural mesothelioma184
HP:0002793HP:0002793Abnormal pattern of respiration0BCHE CL E G H590983OMIM:617936BUTYRYLCHOLINESTERASE DEFICIENCY; BCHED67
HP:0002793HP:0002793Abnormal pattern of respiration0BCOR CL E G H5488020893ORPHA:520Acute promyelocytic leukemia101
HP:0002793HP:0002793Abnormal pattern of respiration0BICD2 CL E G H2329917208OMIM:615290Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant46
HP:0002793HP:0002793Abnormal pattern of respiration0BMP2 CL E G H6501069OMIM:617877Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies13
HP:0002793HP:0002793Abnormal pattern of respiration0BMPER CL E G H16866724154OMIM:608022DIAPHANOSPONDYLODYSOSTOSIS78
HP:0002793HP:0002793Abnormal pattern of respiration0BMPER CL E G H16866724154ORPHA:66637Diaphanospondylodysostosis78
HP:0002793HP:0002793Abnormal pattern of respiration0BMPR2 CL E G H6591078OMIM:178600Pulmonary hypertension, primary, 1525
HP:0002793HP:0002793Abnormal pattern of respiration0BOLA3 CL E G H38896224415OMIM:614299Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia14
HP:0002793HP:0002793Abnormal pattern of respiration0BRAF CL E G H6731097ORPHA:54595Craniopharyngioma276
HP:0002793HP:0002793Abnormal pattern of respiration0BRAT1 CL E G H22192721701OMIM:618056Neurodevelopmental disorder with cerebellar atrophy and with or without seizures20
HP:0002793HP:0002793Abnormal pattern of respiration0BRAT1 CL E G H22192721701OMIM:614498Rigidity and multifocal seizure syndrome, lethal neonatal20
HP:0002793HP:0002793Abnormal pattern of respiration0BTD CL E G H6861122ORPHA:79241Biotinidase deficiency223
HP:0002793HP:0002793Abnormal pattern of respiration0BTD CL E G H6861122OMIM:253260Biotinidase deficiencymultiple carboxylase deficiency, late-onset223
HP:0002793HP:0002793Abnormal pattern of respiration0BTNL2 CL E G H562441142ORPHA:797Sarcoidosis1
HP:0002793HP:0002793Abnormal pattern of respiration0BTNL2 CL E G H562441142OMIM:612387Sarcoidosis, susceptibility to, 21
HP:0002793HP:0002793Abnormal pattern of respiration0BUB1 CL E G H6991148ORPHA:1052Mosaic variegated aneuploidy syndrome5
HP:0002793HP:0002793Abnormal pattern of respiration0BUB1B CL E G H7011149ORPHA:1052Mosaic variegated aneuploidy syndrome76
HP:0002793HP:0002793Abnormal pattern of respiration0BUB3 CL E G H91841151ORPHA:1052Mosaic variegated aneuploidy syndrome
HP:0002793HP:0002793Abnormal pattern of respiration0C2CD3 CL E G H2600524564ORPHA:434179Orofaciodigital syndrome type 1427
HP:0002793HP:0002793Abnormal pattern of respiration0C9ORF72 CL E G H20322828337ORPHA:803Amyotrophic lateral sclerosis56
HP:0002793HP:0002793Abnormal pattern of respiration0CA2 CL E G H7601373ORPHA:2785Osteopetrosis with renal tubular acidosis29
HP:0002793HP:0002793Abnormal pattern of respiration0CA5A CL E G H7631377OMIM:615751Hyperammonemia due to carbonic anhydrase VA deficiency10
HP:0002793HP:0002793Abnormal pattern of respiration0CABP4 CL E G H570101386ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsy94
HP:0002793HP:0002793Abnormal pattern of respiration0CACNA1A CL E G H7731388ORPHA:2131Alternating hemiplegia of childhood449
HP:0002793HP:0002793Abnormal pattern of respiration0CACNA1C CL E G H7751390OMIM:620029572
HP:0002793HP:0002793Abnormal pattern of respiration0CACNA1H CL E G H89121395ORPHA:64280Childhood absence epilepsy75
HP:0002793HP:0002793Abnormal pattern of respiration0CACNA1S CL E G H7791397ORPHA:423Malignant hyperthermia of anesthesia247
HP:0002793HP:0002793Abnormal pattern of respiration0CAMK2B CL E G H8161461OMIM:617799Mental retardation, autosomal dominant 54
HP:0002793HP:0002793Abnormal pattern of respiration0CASK CL E G H85731497OMIM:300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia118
HP:0002793HP:0002793Abnormal pattern of respiration0CASR CL E G H8461514ORPHA:428Autosomal dominant hypocalcemiaHP:0040282 - Frequent272
HP:0002793HP:0002793Abnormal pattern of respiration0CASR CL E G H8461514OMIM:239200Hyperparathyroidism, neonatal severe272
HP:0002793HP:0002793Abnormal pattern of respiration0CAV1 CL E G H8571527ORPHA:220393Diffuse cutaneous systemic sclerosis11
HP:0002793HP:0002793Abnormal pattern of respiration0CAV1 CL E G H8571527OMIM:615343Pulmonary hypertension, primary, 311
HP:0002793HP:0002793Abnormal pattern of respiration0CBY1 CL E G H257761307ORPHA:475Joubert syndromeHP:0040281 - Very frequent1
HP:0002793HP:0002793Abnormal pattern of respiration0CC2D2A CL E G H5754529253OMIM:619111COACH SYNDROME 2; COACH2247
HP:0002793HP:0002793Abnormal pattern of respiration0CC2D2A CL E G H5754529253OMIM:612285Joubert syndrome 9247
HP:0002793HP:0002793Abnormal pattern of respiration0CC2D2A CL E G H5754529253ORPHA:1454Joubert syndrome with hepatic defectHP:0040281 - Very frequent247
HP:0002793HP:0002793Abnormal pattern of respiration0CC2D2A CL E G H5754529253ORPHA:2318Joubert syndrome with oculorenal defect247
HP:0002793HP:0002793Abnormal pattern of respiration0CCDC47 CL E G H5700324856OMIM:618268Trichohepatoneurodevelopmental syndrome
HP:0002793HP:0002793Abnormal pattern of respiration0CCN2 CL E G H14902500ORPHA:220393Diffuse cutaneous systemic sclerosis
HP:0002793HP:0002793Abnormal pattern of respiration0CCNF CL E G H8991591ORPHA:803Amyotrophic lateral sclerosis
HP:0002793HP:0002793Abnormal pattern of respiration0CCR6 CL E G H12351607ORPHA:220393Diffuse cutaneous systemic sclerosis
HP:0002793HP:0002793Abnormal pattern of respiration0CDC42BPB CL E G H95781738OMIM:619841
HP:0002793HP:0002793Abnormal pattern of respiration0CDC45 CL E G H83181739ORPHA:2554Ear-patella-short stature syndrome9
HP:0002793HP:0002793Abnormal pattern of respiration0CDC6 CL E G H9901744ORPHA:2554Ear-patella-short stature syndrome31
HP:0002793HP:0002793Abnormal pattern of respiration0CDK13 CL E G H86211733OMIM:617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder8
HP:0002793HP:0002793Abnormal pattern of respiration0CDKL5 CL E G H679211411ORPHA:3095Atypical Rett syndromeHP:0040281 - Very frequent405
HP:0002793HP:0002793Abnormal pattern of respiration0CDKL5 CL E G H679211411OMIM:300672Developmental and epileptic encephalopathy 2405
HP:0002793HP:0002793Abnormal pattern of respiration0CDON CL E G H5093717104ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent200
HP:0002793HP:0002793Abnormal pattern of respiration0CDON CL E G H5093717104ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional200
HP:0002793HP:0002793Abnormal pattern of respiration0CDON CL E G H5093717104ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent200
HP:0002793HP:0002793Abnormal pattern of respiration0CDON CL E G H5093717104ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent200
HP:0002793HP:0002793Abnormal pattern of respiration0CDT1 CL E G H8162024576ORPHA:2554Ear-patella-short stature syndrome50
HP:0002793HP:0002793Abnormal pattern of respiration0CEP104 CL E G H973124866ORPHA:475Joubert syndromeHP:0040281 - Very frequent5
HP:0002793HP:0002793Abnormal pattern of respiration0CEP120 CL E G H15324126690ORPHA:475Joubert syndromeHP:0040281 - Very frequent7
HP:0002793HP:0002793Abnormal pattern of respiration0CEP120 CL E G H15324126690ORPHA:220493Joubert syndrome with ocular defectHP:0040281 - Very frequent7
HP:0002793HP:0002793Abnormal pattern of respiration0CEP290 CL E G H8018429021OMIM:610188Joubert syndrome 5342
HP:0002793HP:0002793Abnormal pattern of respiration0CEP290 CL E G H8018429021ORPHA:2318Joubert syndrome with oculorenal defect342
HP:0002793HP:0002793Abnormal pattern of respiration0CEP41 CL E G H9568112370ORPHA:475Joubert syndromeHP:0040281 - Very frequent90
HP:0002793HP:0002793Abnormal pattern of respiration0CEP41 CL E G H9568112370ORPHA:220493Joubert syndrome with ocular defectHP:0040281 - Very frequent90
HP:0002793HP:0002793Abnormal pattern of respiration0CEP57 CL E G H970230794ORPHA:1052Mosaic variegated aneuploidy syndrome17
HP:0002793HP:0002793Abnormal pattern of respiration0CEP57 CL E G H970230794OMIM:614114Mosaic variegated aneuploidy syndrome 217
HP:0002793HP:0002793Abnormal pattern of respiration0CFAP410 CL E G H7551260ORPHA:803Amyotrophic lateral sclerosis
HP:0002793HP:0002793Abnormal pattern of respiration0CFL2 CL E G H10731875ORPHA:171436Typical nemaline myopathy35
HP:0002793HP:0002793Abnormal pattern of respiration0CFTR CL E G H10801884ORPHA:60033Idiopathic bronchiectasis1371
HP:0002793HP:0002793Abnormal pattern of respiration0CHAMP1 CL E G H28348920311OMIM:616579Mental retardation, autosomal dominant 4016
HP:0002793HP:0002793Abnormal pattern of respiration0CHAT CL E G H11031912OMIM:254210Myasthenic syndrome, congenital, 6, presynaptic65
HP:0002793HP:0002793Abnormal pattern of respiration0CHAT CL E G H11031912ORPHA:98914Presynaptic congenital myasthenic syndromes65
HP:0002793HP:0002793Abnormal pattern of respiration0CHCHD10 CL E G H40091615559ORPHA:803Amyotrophic lateral sclerosis11
HP:0002793HP:0002793Abnormal pattern of respiration0CHMP2B CL E G H2597824537ORPHA:803Amyotrophic lateral sclerosis42
HP:0002793HP:0002793Abnormal pattern of respiration0CHRNA1 CL E G H11341955ORPHA:98913Postsynaptic congenital myasthenic syndromes74
HP:0002793HP:0002793Abnormal pattern of respiration0CHRNA2 CL E G H11351956ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsy188
HP:0002793HP:0002793Abnormal pattern of respiration0CHRNA4 CL E G H11371958ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsy225
HP:0002793HP:0002793Abnormal pattern of respiration0CHRNB1 CL E G H11401961ORPHA:98913Postsynaptic congenital myasthenic syndromes53
HP:0002793HP:0002793Abnormal pattern of respiration0CHRNB2 CL E G H11411962ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsy88
HP:0002793HP:0002793Abnormal pattern of respiration0CHRND CL E G H11441965ORPHA:98913Postsynaptic congenital myasthenic syndromes88
HP:0002793HP:0002793Abnormal pattern of respiration0CHRNE CL E G H11451966OMIM:605809Myasthenic syndrome, congenital, 4A, slow-channel139
HP:0002793HP:0002793Abnormal pattern of respiration0CHRNE CL E G H11451966ORPHA:98913Postsynaptic congenital myasthenic syndromes139
HP:0002793HP:0002793Abnormal pattern of respiration0CISD2 CL E G H49385624212ORPHA:3463Wolfram syndrome3
HP:0002793HP:0002793Abnormal pattern of respiration0CITED2 CL E G H103701987ORPHA:99103Atrial septal defect, ostium secundum type5
HP:0002793HP:0002793Abnormal pattern of respiration0CITED2 CL E G H103701987ORPHA:99105Atrial septal defect, sinus venosus type5
HP:0002793HP:0002793Abnormal pattern of respiration0CIZ1 CL E G H2579216744ORPHA:420492Adult-onset cervical dystonia, DYT23 type16
HP:0002793HP:0002793Abnormal pattern of respiration0CLCN7 CL E G H11862025ORPHA:667Autosomal recessive malignant osteopetrosis102
HP:0002793HP:0002793Abnormal pattern of respiration0CLCNKB CL E G H11882027ORPHA:358Gitelman syndrome27
HP:0002793HP:0002793Abnormal pattern of respiration0CLPB CL E G H8157030664OMIM:6162713-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia38
HP:0002793HP:0002793Abnormal pattern of respiration0CNTNAP1 CL E G H85068011ORPHA:2680Hypomyelination neuropathy-arthrogryposis syndrome9
HP:0002793HP:0002793Abnormal pattern of respiration0CNTNAP2 CL E G H2604713830ORPHA:163681CNTNAP2-related developmental and epileptic encephalopathy518
HP:0002793HP:0002793Abnormal pattern of respiration0CNTNAP2 CL E G H2604713830OMIM:610042Pitt-Hopkins-Like syndrome 1518
HP:0002793HP:0002793Abnormal pattern of respiration0COA6 CL E G H38875318025OMIM:616501CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 4; CEMCOX48
HP:0002793HP:0002793Abnormal pattern of respiration0COA8 CL E G H8433420492ORPHA:436271Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
HP:0002793HP:0002793Abnormal pattern of respiration0COL12A1 CL E G H13032188ORPHA:610Bethlem myopathy65
HP:0002793HP:0002793Abnormal pattern of respiration0COL12A1 CL E G H13032188OMIM:616470ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2; UCMD265
HP:0002793HP:0002793Abnormal pattern of respiration0COL13A1 CL E G H13052190ORPHA:98913Postsynaptic congenital myasthenic syndromes6
HP:0002793HP:0002793Abnormal pattern of respiration0COL13A1 CL E G H13052190ORPHA:98914Presynaptic congenital myasthenic syndromes6
HP:0002793HP:0002793Abnormal pattern of respiration0COL1A2 CL E G H12782198ORPHA:230851Cardiac-valvular Ehlers-Danlos syndrome243
HP:0002793HP:0002793Abnormal pattern of respiration0COL25A1 CL E G H8457018603ORPHA:1143Neurogenic arthrogryposis multiplex congenita3
HP:0002793HP:0002793Abnormal pattern of respiration0COL2A1 CL E G H12802200OMIM:156550Kniest dysplasia284
HP:0002793HP:0002793Abnormal pattern of respiration0COL2A1 CL E G H12802200OMIM:151210Platyspondylic lethal skeletal dysplasia, Torrance type284
HP:0002793HP:0002793Abnormal pattern of respiration0COL2A1 CL E G H12802200OMIM:183900Spondyloepiphyseal dysplasia congenita284
HP:0002793HP:0002793Abnormal pattern of respiration0COL3A1 CL E G H12812201ORPHA:286Vascular Ehlers-Danlos syndrome749
HP:0002793HP:0002793Abnormal pattern of respiration0COL4A5 CL E G H12872207ORPHA:1018X-linked Alport syndrome-diffuse leiomyomatosis678
HP:0002793HP:0002793Abnormal pattern of respiration0COL4A6 CL E G H12882208ORPHA:1018X-linked Alport syndrome-diffuse leiomyomatosis18
HP:0002793HP:0002793Abnormal pattern of respiration0COL6A1 CL E G H12912211ORPHA:610Bethlem myopathy442
HP:0002793HP:0002793Abnormal pattern of respiration0COL6A1 CL E G H12912211OMIM:254090Ullrich congenital muscular dystrophy 1442
HP:0002793HP:0002793Abnormal pattern of respiration0COL6A2 CL E G H12922212ORPHA:610Bethlem myopathy478
HP:0002793HP:0002793Abnormal pattern of respiration0COL6A2 CL E G H12922212OMIM:254090Ullrich congenital muscular dystrophy 1478
HP:0002793HP:0002793Abnormal pattern of respiration0COL6A3 CL E G H12932213ORPHA:610Bethlem myopathy702
HP:0002793HP:0002793Abnormal pattern of respiration0COL6A3 CL E G H12932213OMIM:254090Ullrich congenital muscular dystrophy 1702
HP:0002793HP:0002793Abnormal pattern of respiration0COLQ CL E G H82922226ORPHA:98915Synaptic congenital myasthenic syndromes90
HP:0002793HP:0002793Abnormal pattern of respiration0COPA CL E G H13142230OMIM:616414AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE; AILJK5
HP:0002793HP:0002793Abnormal pattern of respiration0COQ2 CL E G H2723525223ORPHA:227510Multiple system atrophy, cerebellar type54
HP:0002793HP:0002793Abnormal pattern of respiration0COQ2 CL E G H2723525223ORPHA:98933Multiple system atrophy, parkinsonian type54
HP:0002793HP:0002793Abnormal pattern of respiration0COQ7 CL E G H102292244OMIM:616733Coenzyme Q10 deficiency, primary, 81
HP:0002793HP:0002793Abnormal pattern of respiration0COX15 CL E G H13552263ORPHA:255241Leigh syndrome with leukodystrophy104
HP:0002793HP:0002793Abnormal pattern of respiration0COX7B CL E G H13492291ORPHA:2556Microphthalmia with linear skin defects syndrome6
HP:0002793HP:0002793Abnormal pattern of respiration0CPLANE1 CL E G H6525025801ORPHA:475Joubert syndromeHP:0040281 - Very frequent
HP:0002793HP:0002793Abnormal pattern of respiration0CPLANE1 CL E G H6525025801OMIM:614615Joubert syndrome 17
HP:0002793HP:0002793Abnormal pattern of respiration0CPLANE1 CL E G H6525025801ORPHA:2754Orofaciodigital syndrome type 6
HP:0002793HP:0002793Abnormal pattern of respiration0CPT2 CL E G H13762330OMIM:608836Carnitine palmitoyltransferase II deficiency, lethal neonatal101
HP:0002793HP:0002793Abnormal pattern of respiration0CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0002793HP:0002793Abnormal pattern of respiration0CREBBP CL E G H13872348ORPHA:353281Rubinstein-Taybi syndrome due to 16p13.3 microdeletion291
HP:0002793HP:0002793Abnormal pattern of respiration0CREBBP CL E G H13872348ORPHA:353277Rubinstein-Taybi syndrome due to CREBBP mutations291
HP:0002793HP:0002793Abnormal pattern of respiration0CRH CL E G H13922355ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsy1
HP:0002793HP:0002793Abnormal pattern of respiration0CRLF1 CL E G H92442364OMIM:272430Crisponi/cold-induced sweating syndrome 124
HP:0002793HP:0002793Abnormal pattern of respiration0CRYAB CL E G H14102389OMIM:613869Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related46
HP:0002793HP:0002793Abnormal pattern of respiration0CSF2RA CL E G H14382435ORPHA:264675Hereditary pulmonary alveolar proteinosis15
HP:0002793HP:0002793Abnormal pattern of respiration0CSF2RA CL E G H14382435OMIM:300770SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4; SMDP415
HP:0002793HP:0002793Abnormal pattern of respiration0CSF2RB CL E G H14392436ORPHA:264675Hereditary pulmonary alveolar proteinosis17
HP:0002793HP:0002793Abnormal pattern of respiration0CSF2RB CL E G H14392436OMIM:614370SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5; SMDP517
HP:0002793HP:0002793Abnormal pattern of respiration0CSPP1 CL E G H7984826193ORPHA:475Joubert syndromeHP:0040281 - Very frequent57
HP:0002793HP:0002793Abnormal pattern of respiration0CSPP1 CL E G H7984826193OMIM:615636Joubert syndrome 2157
HP:0002793HP:0002793Abnormal pattern of respiration0CSPP1 CL E G H7984826193ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophy57
HP:0002793HP:0002793Abnormal pattern of respiration0CTNNB1 CL E G H14992514ORPHA:54595Craniopharyngioma88
HP:0002793HP:0002793Abnormal pattern of respiration0CTSD CL E G H15092529OMIM:610127Ceroid lipofuscinosis, neuronal, 10159
HP:0002793HP:0002793Abnormal pattern of respiration0CTSK CL E G H15132536ORPHA:763PycnodysostosisHP:0040283 - Occasional39
HP:0002793HP:0002793Abnormal pattern of respiration0CYB5A CL E G H15282570ORPHA:621Hereditary methemoglobinemia2
HP:0002793HP:0002793Abnormal pattern of respiration0CYB5R3 CL E G H17272873ORPHA:621Hereditary methemoglobinemia24
HP:0002793HP:0002793Abnormal pattern of respiration0CYB5R3 CL E G H17272873OMIM:250800Methemoglobinemia due to deficiency of methemoglobin reductase24
HP:0002793HP:0002793Abnormal pattern of respiration0CYTB CL E G H45197427ORPHA:137675Histiocytoid cardiomyopathy
HP:0002793HP:0002793Abnormal pattern of respiration0D2HGDH CL E G H72829428358OMIM:600721D-2-Hydroxyglutaric aciduria 1102
HP:0002793HP:0002793Abnormal pattern of respiration0DAO CL E G H16102671ORPHA:803Amyotrophic lateral sclerosis
HP:0002793HP:0002793Abnormal pattern of respiration0DBH CL E G H16212689ORPHA:230Dopamine beta-hydroxylase deficiency80
HP:0002793HP:0002793Abnormal pattern of respiration0DCTN1 CL E G H16392711ORPHA:803Amyotrophic lateral sclerosis86
HP:0002793HP:0002793Abnormal pattern of respiration0DCTN1 CL E G H16392711OMIM:105400Amyotrophic lateral sclerosis 186
HP:0002793HP:0002793Abnormal pattern of respiration0DCTN1 CL E G H16392711ORPHA:178509Perry syndrome86
HP:0002793HP:0002793Abnormal pattern of respiration0DCTN1 CL E G H16392711OMIM:168605Perry syndrome86
HP:0002793HP:0002793Abnormal pattern of respiration0DDB1 CL E G H16422717OMIM:619426WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0002793HP:0002793Abnormal pattern of respiration0DDC CL E G H16442719OMIM:608643Aromatic L-amino acid decarboxylase deficiency43
HP:0002793HP:0002793Abnormal pattern of respiration0DEPDC5 CL E G H968118423ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsy172
HP:0002793HP:0002793Abnormal pattern of respiration0DHX16 CL E G H84492739OMIM:618733NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0002793HP:0002793Abnormal pattern of respiration0DISC1 CL E G H271852888ORPHA:171703Microcephaly-polymicrogyria-corpus callosum agenesis syndrome2
HP:0002793HP:0002793Abnormal pattern of respiration0DISP1 CL E G H8497619711ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent22
HP:0002793HP:0002793Abnormal pattern of respiration0DISP1 CL E G H8497619711ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional22
HP:0002793HP:0002793Abnormal pattern of respiration0DISP1 CL E G H8497619711ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent22
HP:0002793HP:0002793Abnormal pattern of respiration0DISP1 CL E G H8497619711ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent22
HP:0002793HP:0002793Abnormal pattern of respiration0DKK1 CL E G H229432891ORPHA:268882Arnold-Chiari malformation type I
HP:0002793HP:0002793Abnormal pattern of respiration0DLL1 CL E G H285142908ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent3
HP:0002793HP:0002793Abnormal pattern of respiration0DLL1 CL E G H285142908ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional3
HP:0002793HP:0002793Abnormal pattern of respiration0DLL1 CL E G H285142908ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent3
HP:0002793HP:0002793Abnormal pattern of respiration0DLL1 CL E G H285142908ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent3
HP:0002793HP:0002793Abnormal pattern of respiration0DMD CL E G H17562928OMIM:310200Duchenne muscular dystrophy1496
HP:0002793HP:0002793Abnormal pattern of respiration0DMPK CL E G H17602933OMIM:160900Myotonic dystrophy 1152
HP:0002793HP:0002793Abnormal pattern of respiration0DNA2 CL E G H17632939ORPHA:352470DNA2-related mitochondrial DNA deletion syndrome41
HP:0002793HP:0002793Abnormal pattern of respiration0DNA2 CL E G H17632939OMIM:615156Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 641
HP:0002793HP:0002793Abnormal pattern of respiration0DNAAF3 CL E G H35290930492OMIM:606763Ciliary dyskinesia, primary, 263
HP:0002793HP:0002793Abnormal pattern of respiration0DNAJB6 CL E G H1004914888OMIM:603511Muscular dystrophy, limb-girdle, type 1E103
HP:0002793HP:0002793Abnormal pattern of respiration0DNAJC21 CL E G H13421827030OMIM:260400Shwachman-Diamond syndrome 15
HP:0002793HP:0002793Abnormal pattern of respiration0DNASE1L3 CL E G H17762959ORPHA:36412Hypocomplementemic urticarial vasculitis3
HP:0002793HP:0002793Abnormal pattern of respiration0DOK7 CL E G H28548926594ORPHA:98913Postsynaptic congenital myasthenic syndromes91
HP:0002793HP:0002793Abnormal pattern of respiration0DPAGT1 CL E G H17982995OMIM:608093Congenital disorder of glycosylation, type Ij38
HP:0002793HP:0002793Abnormal pattern of respiration0DPH1 CL E G H18013003ORPHA:459061Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome3
HP:0002793HP:0002793Abnormal pattern of respiration0DPH5 CL E G H5161124270OMIM:620070
HP:0002793HP:0002793Abnormal pattern of respiration0DPM1 CL E G H88133005OMIM:608799Congenital disorder of glycosylation, type IE27
HP:0002793HP:0002793Abnormal pattern of respiration0DPM2 CL E G H88183006OMIM:615042Congenital disorder of glycosylation, type Iu26
HP:0002793HP:0002793Abnormal pattern of respiration0DPM2 CL E G H88183006ORPHA:329178Congenital muscular dystrophy with intellectual disability and severe epilepsy26
HP:0002793HP:0002793Abnormal pattern of respiration0DPP9 CL E G H9103918648ORPHA:2032Idiopathic pulmonary fibrosis
HP:0002793HP:0002793Abnormal pattern of respiration0DSC2 CL E G H18243036OMIM:610476Arrhythmogenic right ventricular dysplasia, familial, 11268
HP:0002793HP:0002793Abnormal pattern of respiration0DSG2 CL E G H18293049OMIM:612877CARDIOMYOPATHY, DILATED, 1BB; CMD1BB358
HP:0002793HP:0002793Abnormal pattern of respiration0DSP CL E G H18323052ORPHA:2032Idiopathic pulmonary fibrosis747
HP:0002793HP:0002793Abnormal pattern of respiration0DST CL E G H6671090OMIM:614653Neuropathy, hereditary sensory and autonomic, type VI108
HP:0002793HP:0002793Abnormal pattern of respiration0DYNC2LI1 CL E G H5162624595OMIM:617088Short-rib thoracic dysplasia 15 with polydactyly7
HP:0002793HP:0002793Abnormal pattern of respiration0DZIP1L CL E G H19922126551ORPHA:731Autosomal recessive polycystic kidney disease4
HP:0002793HP:0002793Abnormal pattern of respiration0ECHS1 CL E G H18923151ORPHA:255241Leigh syndrome with leukodystrophy33
HP:0002793HP:0002793Abnormal pattern of respiration0ECHS1 CL E G H18923151OMIM:616277Mitochondrial short-chain enoyl-coa hydratase 1 deficiency33
HP:0002793HP:0002793Abnormal pattern of respiration0EDA CL E G H18963157OMIM:305100Ectodermal dysplasia 1, hypohidrotic, X-linked115
HP:0002793HP:0002793Abnormal pattern of respiration0EDN1 CL E G H19063176ORPHA:137888Auriculocondylar syndrome6
HP:0002793HP:0002793Abnormal pattern of respiration0EFTUD2 CL E G H934330858OMIM:610536Mandibulofacial dysostosis, Guion-Almeida type48
HP:0002793HP:0002793Abnormal pattern of respiration0EIF2AK4 CL E G H44027519687ORPHA:199241Pulmonary capillary hemangiomatosis40
HP:0002793HP:0002793Abnormal pattern of respiration0EIF2AK4 CL E G H44027519687OMIM:234810PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD240
HP:0002793HP:0002793Abnormal pattern of respiration0ELN CL E G H20063327OMIM:123700Cutis laxa, autosomal dominant 1172
HP:0002793HP:0002793Abnormal pattern of respiration0ELN CL E G H20063327ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection172
HP:0002793HP:0002793Abnormal pattern of respiration0ENG CL E G H20223349OMIM:187300Telangiectasia, hereditary hemorrhagic, type 1186
HP:0002793HP:0002793Abnormal pattern of respiration0ENPP1 CL E G H51673356ORPHA:51608Generalized arterial calcification of infancy151
HP:0002793HP:0002793Abnormal pattern of respiration0EOMES CL E G H83203372ORPHA:171703Microcephaly-polymicrogyria-corpus callosum agenesis syndrome7
HP:0002793HP:0002793Abnormal pattern of respiration0EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0002793HP:0002793Abnormal pattern of respiration0EP300 CL E G H20333373ORPHA:353284Rubinstein-Taybi syndrome due to EP300 haploinsufficiency250
HP:0002793HP:0002793Abnormal pattern of respiration0EPHA4 CL E G H20433388ORPHA:803Amyotrophic lateral sclerosis4
HP:0002793HP:0002793Abnormal pattern of respiration0EPHB4 CL E G H20503395OMIM:617300Lymphatic malformation 73
HP:0002793HP:0002793Abnormal pattern of respiration0EPOR CL E G H20573416ORPHA:90042Primary familial polycythemia43
HP:0002793HP:0002793Abnormal pattern of respiration0ERBB4 CL E G H20663432ORPHA:803Amyotrophic lateral sclerosis15
HP:0002793HP:0002793Abnormal pattern of respiration0ERF CL E G H20773444OMIM:617180Chitayat syndrome12
HP:0002793HP:0002793Abnormal pattern of respiration0ERGIC1 CL E G H5722229205ORPHA:1143Neurogenic arthrogryposis multiplex congenita
HP:0002793HP:0002793Abnormal pattern of respiration0ETFA CL E G H21083481OMIM:231680Multiple acyl-coa dehydrogenase deficiency37
HP:0002793HP:0002793Abnormal pattern of respiration0ETFB CL E G H21093482OMIM:231680Multiple acyl-coa dehydrogenase deficiency27
HP:0002793HP:0002793Abnormal pattern of respiration0ETFDH CL E G H21103483OMIM:231680Multiple acyl-coa dehydrogenase deficiency77
HP:0002793HP:0002793Abnormal pattern of respiration0EXOC2 CL E G H5577024968OMIM:619306NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH1
HP:0002793HP:0002793Abnormal pattern of respiration0FAM13A CL E G H1014419367ORPHA:2032Idiopathic pulmonary fibrosis
HP:0002793HP:0002793Abnormal pattern of respiration0FAM149B1 CL E G H31766229162ORPHA:2754Orofaciodigital syndrome type 6
HP:0002793HP:0002793Abnormal pattern of respiration0FAM20C CL E G H5697522140ORPHA:1832Lethal osteosclerotic bone dysplasia35
HP:0002793HP:0002793Abnormal pattern of respiration0FARS2 CL E G H1066721062ORPHA:466722Autosomal recessive spastic paraplegia type 7736
HP:0002793HP:0002793Abnormal pattern of respiration0FARSB CL E G H1005617800OMIM:613658Rajab interstitial lung disease with brain calcifications
HP:0002793HP:0002793Abnormal pattern of respiration0FBN1 CL E G H22003603ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection1361
HP:0002793HP:0002793Abnormal pattern of respiration0FBN1 CL E G H22003603ORPHA:2462Shprintzen-Goldberg syndrome1361
HP:0002793HP:0002793Abnormal pattern of respiration0FBP1 CL E G H22033606ORPHA:348Fructose-1,6-bisphosphatase deficiency64
HP:0002793HP:0002793Abnormal pattern of respiration0FBP1 CL E G H22033606OMIM:229700Fructose-1,6-Bisphosphatase deficiency64
HP:0002793HP:0002793Abnormal pattern of respiration0FBXO28 CL E G H2321929046OMIM:619777DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0002793HP:0002793Abnormal pattern of respiration0FGF13 CL E G H22583670OMIM:301058DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE901
HP:0002793HP:0002793Abnormal pattern of respiration0FGF8 CL E G H22533686ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent17
HP:0002793HP:0002793Abnormal pattern of respiration0FGF8 CL E G H22533686ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional17
HP:0002793HP:0002793Abnormal pattern of respiration0FGF8 CL E G H22533686ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent17
HP:0002793HP:0002793Abnormal pattern of respiration0FGF8 CL E G H22533686ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent17
HP:0002793HP:0002793Abnormal pattern of respiration0FGFR1 CL E G H22603688ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional172
HP:0002793HP:0002793Abnormal pattern of respiration0FGFR1 CL E G H22603688OMIM:166250Osteoglophonic dysplasia172
HP:0002793HP:0002793Abnormal pattern of respiration0FGFR1 CL E G H22603688ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent172
HP:0002793HP:0002793Abnormal pattern of respiration0FGFR2 CL E G H22633689OMIM:123790Beare-Stevenson cutis gyrata syndrome175
HP:0002793HP:0002793Abnormal pattern of respiration0FGFR2 CL E G H22633689OMIM:123500Crouzon syndrome175
HP:0002793HP:0002793Abnormal pattern of respiration0FGFR2 CL E G H22633689ORPHA:1555Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome175
HP:0002793HP:0002793Abnormal pattern of respiration0FGFR2 CL E G H22633689ORPHA:93259Pfeiffer syndrome type 2175
HP:0002793HP:0002793Abnormal pattern of respiration0FGFR2 CL E G H22633689ORPHA:93260Pfeiffer syndrome type 3175
HP:0002793HP:0002793Abnormal pattern of respiration0FGFR2 CL E G H22633689ORPHA:794Saethre-Chotzen syndrome175
HP:0002793HP:0002793Abnormal pattern of respiration0FGFR3 CL E G H22613690OMIM:100800ACHONDROPLASIA145
HP:0002793HP:0002793Abnormal pattern of respiration0FGFR3 CL E G H22613690ORPHA:15Achondroplasia145
HP:0002793HP:0002793Abnormal pattern of respiration0FGFR3 CL E G H22613690OMIM:616482Achondroplasia, severe, with developmental delay and acanthosis nigricans145
HP:0002793HP:0002793Abnormal pattern of respiration0FGFR3 CL E G H22613690ORPHA:429Hypochondroplasia145
HP:0002793HP:0002793Abnormal pattern of respiration0FGFR3 CL E G H22613690ORPHA:794Saethre-Chotzen syndrome145
HP:0002793HP:0002793Abnormal pattern of respiration0FIG4 CL E G H989616873ORPHA:803Amyotrophic lateral sclerosis111
HP:0002793HP:0002793Abnormal pattern of respiration0FIP1L1 CL E G H8160819124ORPHA:520Acute promyelocytic leukemia4
HP:0002793HP:0002793Abnormal pattern of respiration0FKRP CL E G H7914717997OMIM:607155Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5157
HP:0002793HP:0002793Abnormal pattern of respiration0FLCN CL E G H20116327310OMIM:610883Potocki-Lupski syndrome332
HP:0002793HP:0002793Abnormal pattern of respiration0FLNA CL E G H23163754ORPHA:555877FLNA-related X-linked myxomatous valvular dysplasia493
HP:0002793HP:0002793Abnormal pattern of respiration0FLNC CL E G H23183756ORPHA:75249Familial isolated restrictive cardiomyopathy197
HP:0002793HP:0002793Abnormal pattern of respiration0FOXE3 CL E G H23013808ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection23
HP:0002793HP:0002793Abnormal pattern of respiration0FOXF1 CL E G H22943809ORPHA:210122Congenital alveolar capillary dysplasia61
HP:0002793HP:0002793Abnormal pattern of respiration0FOXH1 CL E G H89283814ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent48
HP:0002793HP:0002793Abnormal pattern of respiration0FOXH1 CL E G H89283814ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional48
HP:0002793HP:0002793Abnormal pattern of respiration0FOXH1 CL E G H89283814ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent48
HP:0002793HP:0002793Abnormal pattern of respiration0FOXH1 CL E G H89283814ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent48
HP:0002793HP:0002793Abnormal pattern of respiration0FOXP3 CL E G H509436106ORPHA:37042Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome32
HP:0002793HP:0002793Abnormal pattern of respiration0FOXRED1 CL E G H5557226927ORPHA:255241Leigh syndrome with leukodystrophy61
HP:0002793HP:0002793Abnormal pattern of respiration0FUS CL E G H25214010ORPHA:803Amyotrophic lateral sclerosis105
HP:0002793HP:0002793Abnormal pattern of respiration0FUZ CL E G H8019926219ORPHA:1136Arnold-Chiari malformation type II3
HP:0002793HP:0002793Abnormal pattern of respiration0FXR1 CL E G H80874023OMIM:618823MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS; MYOPMIL
HP:0002793HP:0002793Abnormal pattern of respiration0FXR1 CL E G H80874023OMIM:618822MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES; MYORIBF
HP:0002793HP:0002793Abnormal pattern of respiration0GAA CL E G H25484065ORPHA:308552Glycogen storage disease due to acid maltase deficiency, infantile onset407
HP:0002793HP:0002793Abnormal pattern of respiration0GAA CL E G H25484065OMIM:232300Glycogen storage disease II407
HP:0002793HP:0002793Abnormal pattern of respiration0GABBR2 CL E G H95684507ORPHA:3095Atypical Rett syndromeHP:0040281 - Very frequent5
HP:0002793HP:0002793Abnormal pattern of respiration0GABBR2 CL E G H95684507OMIM:617903Neurodevelopmental disorder with poor language and loss of hand skills5
HP:0002793HP:0002793Abnormal pattern of respiration0GABRA1 CL E G H25544075ORPHA:64280Childhood absence epilepsy134
HP:0002793HP:0002793Abnormal pattern of respiration0GABRB3 CL E G H25624083ORPHA:64280Childhood absence epilepsy57
HP:0002793HP:0002793Abnormal pattern of respiration0GABRG2 CL E G H25664087ORPHA:64280Childhood absence epilepsy139
HP:0002793HP:0002793Abnormal pattern of respiration0GABRG2 CL E G H25664087ORPHA:1945Rolandic epilepsy139
HP:0002793HP:0002793Abnormal pattern of respiration0GALC CL E G H25814115ORPHA:206436Infantile Krabbe disease160
HP:0002793HP:0002793Abnormal pattern of respiration0GAS1 CL E G H26194165ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent2
HP:0002793HP:0002793Abnormal pattern of respiration0GAS1 CL E G H26194165ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional2
HP:0002793HP:0002793Abnormal pattern of respiration0GAS1 CL E G H26194165ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent2
HP:0002793HP:0002793Abnormal pattern of respiration0GAS1 CL E G H26194165ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent2
HP:0002793HP:0002793Abnormal pattern of respiration0GATA4 CL E G H26264173ORPHA:99103Atrial septal defect, ostium secundum type87
HP:0002793HP:0002793Abnormal pattern of respiration0GATA6 CL E G H26274174ORPHA:99103Atrial septal defect, ostium secundum type37
HP:0002793HP:0002793Abnormal pattern of respiration0GATA6 CL E G H26274174ORPHA:2140Congenital diaphragmatic hernia37
HP:0002793HP:0002793Abnormal pattern of respiration0GATA6 CL E G H26274174ORPHA:2255Pancreatic hypoplasia-diabetes-congenital heart disease syndrome37
HP:0002793HP:0002793Abnormal pattern of respiration0GBA1 CL E G H26294177ORPHA:77260Gaucher disease type 2HP:0040281 - Very frequent
HP:0002793HP:0002793Abnormal pattern of respiration0GBA1 CL E G H26294177OMIM:608013Gaucher disease, perinatal lethal
HP:0002793HP:0002793Abnormal pattern of respiration0GBA1 CL E G H26294177OMIM:230800Gaucher disease, type I
HP:0002793HP:0002793Abnormal pattern of respiration0GBA1 CL E G H26294177OMIM:230900Gaucher disease, type II
HP:0002793HP:0002793Abnormal pattern of respiration0GLA CL E G H27174296ORPHA:324Fabry disease291
HP:0002793HP:0002793Abnormal pattern of respiration0GLE1 CL E G H27334315ORPHA:803Amyotrophic lateral sclerosis45
HP:0002793HP:0002793Abnormal pattern of respiration0GLI2 CL E G H27364318ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent173
HP:0002793HP:0002793Abnormal pattern of respiration0GLI2 CL E G H27364318ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional173
HP:0002793HP:0002793Abnormal pattern of respiration0GLI2 CL E G H27364318ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent173
HP:0002793HP:0002793Abnormal pattern of respiration0GLI2 CL E G H27364318ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent173
HP:0002793HP:0002793Abnormal pattern of respiration0GLRA1 CL E G H27414326OMIM:149400Hyperekplexia 163
HP:0002793HP:0002793Abnormal pattern of respiration0GLT8D1 CL E G H5583024870ORPHA:803Amyotrophic lateral sclerosis
HP:0002793HP:0002793Abnormal pattern of respiration0GLUL CL E G H27524341OMIM:610015GLUTAMINE DEFICIENCY, CONGENITAL98
HP:0002793HP:0002793Abnormal pattern of respiration0GMNN CL E G H5105317493ORPHA:2554Ear-patella-short stature syndrome3
HP:0002793HP:0002793Abnormal pattern of respiration0GNA11 CL E G H27674379ORPHA:428Autosomal dominant hypocalcemiaHP:0040282 - Frequent16
HP:0002793HP:0002793Abnormal pattern of respiration0GNAI3 CL E G H27734387ORPHA:137888Auriculocondylar syndrome2
HP:0002793HP:0002793Abnormal pattern of respiration0GNAI3 CL E G H27734387OMIM:602483Auriculocondylar syndrome 12
HP:0002793HP:0002793Abnormal pattern of respiration0GNAS CL E G H27784392ORPHA:79443Pseudohypoparathyroidism type 1A101
HP:0002793HP:0002793Abnormal pattern of respiration0GNAS CL E G H27784392ORPHA:94089Pseudohypoparathyroidism type 1B101
HP:0002793HP:0002793Abnormal pattern of respiration0GNAS CL E G H27784392ORPHA:79444Pseudohypoparathyroidism type 1C101
HP:0002793HP:0002793Abnormal pattern of respiration0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0002793HP:0002793Abnormal pattern of respiration0GNE CL E G H1002023657ORPHA:3166Sialuria173
HP:0002793HP:0002793Abnormal pattern of respiration0GNE CL E G H1002023657OMIM:269921SIALURIA173
HP:0002793HP:0002793Abnormal pattern of respiration0GNPTAB CL E G H7915829670ORPHA:576Mucolipidosis type II240
HP:0002793HP:0002793Abnormal pattern of respiration0GPHN CL E G H1024315465OMIM:149400Hyperekplexia 118
HP:0002793HP:0002793Abnormal pattern of respiration0GPR101 CL E G H8355014963ORPHA:963Acromegaly5
HP:0002793HP:0002793Abnormal pattern of respiration0GPR101 CL E G H8355014963OMIM:300942Chromosome Xq26.3 duplication syndrome5
HP:0002793HP:0002793Abnormal pattern of respiration0GRB10 CL E G H28874564ORPHA:96182Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
HP:0002793HP:0002793Abnormal pattern of respiration0GRIK2 CL E G H28984580OMIM:619580NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS32
HP:0002793HP:0002793Abnormal pattern of respiration0GRIN1 CL E G H29024584OMIM:619814DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 101; DEE101108
HP:0002793HP:0002793Abnormal pattern of respiration0GRIN2A CL E G H29034585ORPHA:1945Rolandic epilepsy434
HP:0002793HP:0002793Abnormal pattern of respiration0GSN CL E G H29344620ORPHA:85448AGel amyloidosis53
HP:0002793HP:0002793Abnormal pattern of respiration0GTPBP3 CL E G H8470514880ORPHA:444013Combined oxidative phosphorylation defect type 2330
HP:0002793HP:0002793Abnormal pattern of respiration0GUSB CL E G H29904696OMIM:253220Mucopolysaccharidosis, type VII54
HP:0002793HP:0002793Abnormal pattern of respiration0GYG1 CL E G H29924699ORPHA:263297Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency18
HP:0002793HP:0002793Abnormal pattern of respiration0H4C5 CL E G H83674790OMIM:619950
HP:0002793HP:0002793Abnormal pattern of respiration0HACD1 CL E G H92009639OMIM:6199672
HP:0002793HP:0002793Abnormal pattern of respiration0HBB CL E G H30434827ORPHA:231214Beta-thalassemia major580
HP:0002793HP:0002793Abnormal pattern of respiration0HBB CL E G H30434827ORPHA:231226Dominant beta-thalassemia580
HP:0002793HP:0002793Abnormal pattern of respiration0HCCS CL E G H30524837ORPHA:2556Microphthalmia with linear skin defects syndrome11
HP:0002793HP:0002793Abnormal pattern of respiration0HDAC4 CL E G H975914063OMIM:619797NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF33
HP:0002793HP:0002793Abnormal pattern of respiration0HEPHL1 CL E G H34120830477OMIM:261990PILI TORTI AND DEVELOPMENTAL DELAY
HP:0002793HP:0002793Abnormal pattern of respiration0HERC2 CL E G H89244868OMIM:176270Prader-Willi syndrome38
HP:0002793HP:0002793Abnormal pattern of respiration0HEY2 CL E G H234934881ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection
HP:0002793HP:0002793Abnormal pattern of respiration0HLA-B CL E G H31064932ORPHA:36426Stevens-Johnson syndrome4
HP:0002793HP:0002793Abnormal pattern of respiration0HLA-B CL E G H31064932ORPHA:3287Takayasu arteritisHP:0040282 - Frequent4
HP:0002793HP:0002793Abnormal pattern of respiration0HLA-DPB1 CL E G H31154940ORPHA:133Chronic beryllium disease1
HP:0002793HP:0002793Abnormal pattern of respiration0HLA-DRB1 CL E G H31234948ORPHA:747Autoimmune pulmonary alveolar proteinosis2
HP:0002793HP:0002793Abnormal pattern of respiration0HLA-DRB1 CL E G H31234948ORPHA:220393Diffuse cutaneous systemic sclerosis2
HP:0002793HP:0002793Abnormal pattern of respiration0HLA-DRB1 CL E G H31234948ORPHA:797Sarcoidosis2
HP:0002793HP:0002793Abnormal pattern of respiration0HLA-DRB1 CL E G H31234948OMIM:181000Sarcoidosis, susceptibility to, 12
HP:0002793HP:0002793Abnormal pattern of respiration0HLCS CL E G H31414976ORPHA:79242Holocarboxylase synthetase deficiency148
HP:0002793HP:0002793Abnormal pattern of respiration0HLCS CL E G H31414976OMIM:253270Holocarboxylase synthetase deficiency148
HP:0002793HP:0002793Abnormal pattern of respiration0HMGCL CL E G H31555005ORPHA:203-hydroxy-3-methylglutaric aciduria35
HP:0002793HP:0002793Abnormal pattern of respiration0HNRNPA1 CL E G H31785031ORPHA:803Amyotrophic lateral sclerosis31
HP:0002793HP:0002793Abnormal pattern of respiration0HNRNPK CL E G H31905044ORPHA:352665Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion8
HP:0002793HP:0002793Abnormal pattern of respiration0HNRNPK CL E G H31905044ORPHA:453504Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation8
HP:0002793HP:0002793Abnormal pattern of respiration0HOXA1 CL E G H31985099OMIM:601536ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME; ABDS34
HP:0002793HP:0002793Abnormal pattern of respiration0HRAS CL E G H32655173OMIM:218040Costello syndrome113
HP:0002793HP:0002793Abnormal pattern of respiration0HSPD1 CL E G H33295261OMIM:612233Leukodystrophy, hypomyelinating, 446
HP:0002793HP:0002793Abnormal pattern of respiration0HSPG2 CL E G H33395273ORPHA:800Schwartz-Jampel syndrome345
HP:0002793HP:0002793Abnormal pattern of respiration0HTRA2 CL E G H2742914348OMIM:6172483-methylglutaconic aciduria, type VIII39
HP:0002793HP:0002793Abnormal pattern of respiration0HYLS1 CL E G H21984426558ORPHA:475Joubert syndromeHP:0040281 - Very frequent31
HP:0002793HP:0002793Abnormal pattern of respiration0IDH1 CL E G H34175382ORPHA:99646Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria15
HP:0002793HP:0002793Abnormal pattern of respiration0IDS CL E G H34235389ORPHA:217093Mucopolysaccharidosis type 2, attenuated form86
HP:0002793HP:0002793Abnormal pattern of respiration0IDS CL E G H34235389ORPHA:217085Mucopolysaccharidosis type 2, severe form86
HP:0002793HP:0002793Abnormal pattern of respiration0IDS CL E G H34235389OMIM:309900Mucopolysaccharidosis, type II86
HP:0002793HP:0002793Abnormal pattern of respiration0IDUA CL E G H34255391OMIM:607015Hurler-Scheie syndrome115
HP:0002793HP:0002793Abnormal pattern of respiration0IDUA CL E G H34255391OMIM:607016Scheie syndrome115
HP:0002793HP:0002793Abnormal pattern of respiration0IFIH1 CL E G H6413518873OMIM:619773IMMUNODEFICIENCY 95; IMD9528
HP:0002793HP:0002793Abnormal pattern of respiration0IFNG CL E G H34585438ORPHA:805Tuberous sclerosis complex23
HP:0002793HP:0002793Abnormal pattern of respiration0IFT52 CL E G H5109815901OMIM:617102Short-Rib thoracic dysplasia 16 with or without polydactyly4
HP:0002793HP:0002793Abnormal pattern of respiration0IFT81 CL E G H2898114313OMIM:617895Short-Rib thoracic dysplasia 19 with or without polydactyly2
HP:0002793HP:0002793Abnormal pattern of respiration0IGHMBP2 CL E G H35085542OMIM:604320Spinal muscular atrophy, distal, autosomal recessive, 1209
HP:0002793HP:0002793Abnormal pattern of respiration0IKZF1 CL E G H1032013176ORPHA:36426Stevens-Johnson syndrome8
HP:0002793HP:0002793Abnormal pattern of respiration0IL12B CL E G H35935970ORPHA:3287Takayasu arteritisHP:0040282 - Frequent31
HP:0002793HP:0002793Abnormal pattern of respiration0IL1RN CL E G H35576000OMIM:612852Interleukin 1 receptor antagonist deficiency40
HP:0002793HP:0002793Abnormal pattern of respiration0IL6ST CL E G H35726021OMIM:619751STUVE-WIEDEMANN SYNDROME 2; STWS2
HP:0002793HP:0002793Abnormal pattern of respiration0INPP5E CL E G H5662321474ORPHA:475Joubert syndromeHP:0040281 - Very frequent111
HP:0002793HP:0002793Abnormal pattern of respiration0INPP5E CL E G H5662321474OMIM:213300Joubert syndrome 1111
HP:0002793HP:0002793Abnormal pattern of respiration0INPP5E CL E G H5662321474ORPHA:1454Joubert syndrome with hepatic defectHP:0040281 - Very frequent111
HP:0002793HP:0002793Abnormal pattern of respiration0INPP5E CL E G H5662321474ORPHA:220493Joubert syndrome with ocular defectHP:0040281 - Very frequent111
HP:0002793HP:0002793Abnormal pattern of respiration0IPO8 CL E G H105269853OMIM:619472VISS syndrome
HP:0002793HP:0002793Abnormal pattern of respiration0IPW CL E G H36536109OMIM:176270Prader-Willi syndrome
HP:0002793HP:0002793Abnormal pattern of respiration0IRAK1 CL E G H36546112ORPHA:93552Pediatric systemic lupus erythematosus
HP:0002793HP:0002793Abnormal pattern of respiration0IRF2BP2 CL E G H35994821729ORPHA:520Acute promyelocytic leukemia4
HP:0002793HP:0002793Abnormal pattern of respiration0IRF5 CL E G H36636120ORPHA:220393Diffuse cutaneous systemic sclerosis4
HP:0002793HP:0002793Abnormal pattern of respiration0IRF6 CL E G H36646121ORPHA:141291Cleft lip and alveolusHP:0040282 - Frequent99
HP:0002793HP:0002793Abnormal pattern of respiration0ISCU CL E G H2347929882OMIM:255125Myopathy with exercise intolerance, Swedish type19
HP:0002793HP:0002793Abnormal pattern of respiration0ITGA3 CL E G H36756139OMIM:614748Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital6
HP:0002793HP:0002793Abnormal pattern of respiration0JAK2 CL E G H37176192OMIM:133100Erythrocytosis, familial, 157
HP:0002793HP:0002793Abnormal pattern of respiration0JPH2 CL E G H5715814202OMIM:613873Cardiomyopathy, familial hypertrophic, 17111
HP:0002793HP:0002793Abnormal pattern of respiration0JRK CL E G H86296199ORPHA:64280Childhood absence epilepsy
HP:0002793HP:0002793Abnormal pattern of respiration0KAT6A CL E G H799413013OMIM:616268Arboleda-Tham syndrome34
HP:0002793HP:0002793Abnormal pattern of respiration0KAT6B CL E G H2352217582ORPHA:85201Genitopatellar syndrome141
HP:0002793HP:0002793Abnormal pattern of respiration0KATNB1 CL E G H103006217ORPHA:89844Lissencephaly syndrome, Norman-Roberts type10
HP:0002793HP:0002793Abnormal pattern of respiration0KATNIP CL E G H2324729068ORPHA:475Joubert syndromeHP:0040281 - Very frequent
HP:0002793HP:0002793Abnormal pattern of respiration0KCNA1 CL E G H37366218ORPHA:37612Episodic ataxia type 1145
HP:0002793HP:0002793Abnormal pattern of respiration0KCNJ11 CL E G H37676257ORPHA:79644Autosomal recessive hyperinsulinism due to Kir6.2 deficiency127
HP:0002793HP:0002793Abnormal pattern of respiration0KCNJ6 CL E G H37636267ORPHA:435628Keppen-Lubinsky syndrome3
HP:0002793HP:0002793Abnormal pattern of respiration0KCNQ2 CL E G H37856296ORPHA:306Benign familial infantile epilepsy528
HP:0002793HP:0002793Abnormal pattern of respiration0KCNQ2 CL E G H37856296ORPHA:1949Benign familial neonatal epilepsy528
HP:0002793HP:0002793Abnormal pattern of respiration0KCNQ2 CL E G H37856296ORPHA:439218KCNQ2-related epileptic encephalopathy528
HP:0002793HP:0002793Abnormal pattern of respiration0KCNQ3 CL E G H37866297ORPHA:306Benign familial infantile epilepsy302
HP:0002793HP:0002793Abnormal pattern of respiration0KCNQ3 CL E G H37866297ORPHA:1949Benign familial neonatal epilepsy302
HP:0002793HP:0002793Abnormal pattern of respiration0KCNT1 CL E G H5758218865ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsy321
HP:0002793HP:0002793Abnormal pattern of respiration0KIAA0586 CL E G H978619960ORPHA:475Joubert syndromeHP:0040281 - Very frequent24
HP:0002793HP:0002793Abnormal pattern of respiration0KIAA0586 CL E G H978619960OMIM:616490Joubert syndrome 2324
HP:0002793HP:0002793Abnormal pattern of respiration0KIAA0586 CL E G H978619960ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophy24
HP:0002793HP:0002793Abnormal pattern of respiration0KIAA0753 CL E G H985129110ORPHA:2754Orofaciodigital syndrome type 64
HP:0002793HP:0002793Abnormal pattern of respiration0KIF20A CL E G H101129787ORPHA:75249Familial isolated restrictive cardiomyopathy
HP:0002793HP:0002793Abnormal pattern of respiration0KIF5A CL E G H37986323OMIM:617235Myoclonus, intractable, neonatal93
HP:0002793HP:0002793Abnormal pattern of respiration0KIF7 CL E G H37465430497ORPHA:2754Orofaciodigital syndrome type 6167
HP:0002793HP:0002793Abnormal pattern of respiration0KIT CL E G H38156342ORPHA:79455Cutaneous mastocytoma327
HP:0002793HP:0002793Abnormal pattern of respiration0KLHL41 CL E G H1032416905ORPHA:171436Typical nemaline myopathy13
HP:0002793HP:0002793Abnormal pattern of respiration0KLHL7 CL E G H5597515646OMIM:617055Crisponi/cold-Induced sweating syndrome 342
HP:0002793HP:0002793Abnormal pattern of respiration0KRT16 CL E G H38686423ORPHA:2309Pachyonychia congenita27
HP:0002793HP:0002793Abnormal pattern of respiration0KRT17 CL E G H38726427ORPHA:2309Pachyonychia congenita23
HP:0002793HP:0002793Abnormal pattern of respiration0KRT6A CL E G H38536443ORPHA:2309Pachyonychia congenita41
HP:0002793HP:0002793Abnormal pattern of respiration0KRT6B CL E G H38546444ORPHA:2309Pachyonychia congenita4
HP:0002793HP:0002793Abnormal pattern of respiration0LAMA2 CL E G H39086482ORPHA:258Laminin subunit alpha 2-related congenital muscular dystrophy411
HP:0002793HP:0002793Abnormal pattern of respiration0LAMA3 CL E G H39096483ORPHA:79404Severe generalized junctional epidermolysis bullosa116
HP:0002793HP:0002793Abnormal pattern of respiration0LAMB2 CL E G H39136487ORPHA:98915Synaptic congenital myasthenic syndromes92
HP:0002793HP:0002793Abnormal pattern of respiration0LAMB3 CL E G H39146490ORPHA:79404Severe generalized junctional epidermolysis bullosa167
HP:0002793HP:0002793Abnormal pattern of respiration0LAMC2 CL E G H39186493ORPHA:79404Severe generalized junctional epidermolysis bullosa135
HP:0002793HP:0002793Abnormal pattern of respiration0LARP7 CL E G H5157424912ORPHA:319671Alazami syndrome16
HP:0002793HP:0002793Abnormal pattern of respiration0LBX1 CL E G H1066016960OMIM:619483CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 3; CCHS3
HP:0002793HP:0002793Abnormal pattern of respiration0LDLR CL E G H39496547ORPHA:391665Homozygous familial hypercholesterolemia2157
HP:0002793HP:0002793Abnormal pattern of respiration0LDLRAP1 CL E G H2611918640ORPHA:391665Homozygous familial hypercholesterolemia73
HP:0002793HP:0002793Abnormal pattern of respiration0LGI4 CL E G H16317518712ORPHA:2680Hypomyelination neuropathy-arthrogryposis syndrome6
HP:0002793HP:0002793Abnormal pattern of respiration0LIAS CL E G H1101916429OMIM:614462Hyperglycinemia, lactic acidosis, and seizures31
HP:0002793HP:0002793Abnormal pattern of respiration0LIFR CL E G H39776597ORPHA:3206Stüve-Wiedemann syndrome144
HP:0002793HP:0002793Abnormal pattern of respiration0LIFR CL E G H39776597OMIM:601559Stuve-Wiedemann syndrome144
HP:0002793HP:0002793Abnormal pattern of respiration0LIPT1 CL E G H5160129569ORPHA:255241Leigh syndrome with leukodystrophy21
HP:0002793HP:0002793Abnormal pattern of respiration0LMNA CL E G H40006636OMIM:181350Emery-Dreifuss muscular dystrophy 2, autosomal dominant645
HP:0002793HP:0002793Abnormal pattern of respiration0LMNA CL E G H40006636ORPHA:740Hutchinson-Gilford progeria syndrome645
HP:0002793HP:0002793Abnormal pattern of respiration0LMNA CL E G H40006636OMIM:619793RESTRICTIVE DERMOPATHY 2; RSDM2645
HP:0002793HP:0002793Abnormal pattern of respiration0LMOD3 CL E G H562036649ORPHA:171436Typical nemaline myopathy11
HP:0002793HP:0002793Abnormal pattern of respiration0LONP1 CL E G H93619479ORPHA:2140Congenital diaphragmatic hernia8
HP:0002793HP:0002793Abnormal pattern of respiration0LOX CL E G H40156664ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection6
HP:0002793HP:0002793Abnormal pattern of respiration0LRP12 CL E G H2996731708OMIM:164310Oculopharyngodistal myopathy 1
HP:0002793HP:0002793Abnormal pattern of respiration0LRP4 CL E G H40386696ORPHA:98913Postsynaptic congenital myasthenic syndromes124
HP:0002793HP:0002793Abnormal pattern of respiration0LRPPRC CL E G H1012815714ORPHA:70472Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type191
HP:0002793HP:0002793Abnormal pattern of respiration0LRPPRC CL E G H1012815714OMIM:220111Leigh syndrome, french Canadian type191
HP:0002793HP:0002793Abnormal pattern of respiration0LRRC32 CL E G H26154161OMIM:619074CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY; CPPRDD
HP:0002793HP:0002793Abnormal pattern of respiration0LTBP3 CL E G H40546716OMIM:617809Geleophysic dysplasia 312
HP:0002793HP:0002793Abnormal pattern of respiration0LYRM4 CL E G H5712821365OMIM:615595Combined oxidative phosphorylation deficiency 194
HP:0002793HP:0002793Abnormal pattern of respiration0LYRM7 CL E G H9062428072OMIM:615838Mitochondrial complex III deficiency, nuclear type 810
HP:0002793HP:0002793Abnormal pattern of respiration0MAGEL2 CL E G H545516814ORPHA:398069MAGEL2-related Prader-Willi-like syndrome63
HP:0002793HP:0002793Abnormal pattern of respiration0MAGEL2 CL E G H545516814OMIM:176270Prader-Willi syndrome63
HP:0002793HP:0002793Abnormal pattern of respiration0MAGEL2 CL E G H545516814ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 1563
HP:0002793HP:0002793Abnormal pattern of respiration0MAGEL2 CL E G H545516814ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 163
HP:0002793HP:0002793Abnormal pattern of respiration0MAGEL2 CL E G H545516814ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 263
HP:0002793HP:0002793Abnormal pattern of respiration0MAGEL2 CL E G H545516814OMIM:615547Schaaf-Yang syndrome63
HP:0002793HP:0002793Abnormal pattern of respiration0MAPT CL E G H41376893ORPHA:240103Progressive supranuclear palsy-corticobasal syndrome140
HP:0002793HP:0002793Abnormal pattern of respiration0MAPT CL E G H41376893ORPHA:240085Progressive supranuclear palsy-parkinsonism syndrome140
HP:0002793HP:0002793Abnormal pattern of respiration0MARS1 CL E G H41416898OMIM:615486Interstitial lung and liver disease
HP:0002793HP:0002793Abnormal pattern of respiration0MAT2A CL E G H41446904ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection13
HP:0002793HP:0002793Abnormal pattern of respiration0MATR3 CL E G H97826912ORPHA:803Amyotrophic lateral sclerosis80
HP:0002793HP:0002793Abnormal pattern of respiration0MCCC1 CL E G H569226936OMIM:2102003-Methylcrotonyl-CoA carboxylase 1 deficiency81
HP:0002793HP:0002793Abnormal pattern of respiration0MCM3AP CL E G H88886946OMIM:618124Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development3
HP:0002793HP:0002793Abnormal pattern of respiration0MECP2 CL E G H42046990ORPHA:3095Atypical Rett syndromeHP:0040281 - Very frequent950
HP:0002793HP:0002793Abnormal pattern of respiration0MECP2 CL E G H42046990OMIM:300673Encephalopathy, neonatal severe, due to mecp2 mutations950
HP:0002793HP:0002793Abnormal pattern of respiration0MECP2 CL E G H42046990OMIM:300055Mental retardation, X-linked, syndromic 13950
HP:0002793HP:0002793Abnormal pattern of respiration0MECP2 CL E G H42046990OMIM:312750Rett syndrome950
HP:0002793HP:0002793Abnormal pattern of respiration0MECP2 CL E G H42046990ORPHA:778Rett syndromeHP:0040281 - Very frequent950
HP:0002793HP:0002793Abnormal pattern of respiration0MED27 CL E G H94422377OMIM:619286NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0002793HP:0002793Abnormal pattern of respiration0MEGF10 CL E G H8446629634OMIM:614399Myopathy, areflexia, respiratory distress, and dysphagia, early-onset158
HP:0002793HP:0002793Abnormal pattern of respiration0MFAP5 CL E G H807629673ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection11
HP:0002793HP:0002793Abnormal pattern of respiration0MGAT2 CL E G H42477045ORPHA:79329MGAT2-CDG39
HP:0002793HP:0002793Abnormal pattern of respiration0MGME1 CL E G H9266716205OMIM:615084Mitochondrial DNA depletion syndrome 1111
HP:0002793HP:0002793Abnormal pattern of respiration0MGME1 CL E G H9266716205ORPHA:352447Progressive external ophthalmoplegia-myopathy-emaciation syndrome11
HP:0002793HP:0002793Abnormal pattern of respiration0MINPP1 CL E G H95627102OMIM:619527PONTOCEREBELLAR HYPOPLASIA, TYPE 16; PCH163
HP:0002793HP:0002793Abnormal pattern of respiration0MKRN3 CL E G H76817114OMIM:176270Prader-Willi syndrome5
HP:0002793HP:0002793Abnormal pattern of respiration0MKRN3-AS1 CL E G H10108OMIM:176270Prader-Willi syndrome
HP:0002793HP:0002793Abnormal pattern of respiration0MKS1 CL E G H549037121ORPHA:475Joubert syndromeHP:0040281 - Very frequent127
HP:0002793HP:0002793Abnormal pattern of respiration0MKS1 CL E G H549037121ORPHA:220493Joubert syndrome with ocular defectHP:0040281 - Very frequent127
HP:0002793HP:0002793Abnormal pattern of respiration0MLX CL E G H694511645ORPHA:3287Takayasu arteritisHP:0040282 - Frequent
HP:0002793HP:0002793Abnormal pattern of respiration0MMAA CL E G H16678518871OMIM:251100Methylmalonic aciduria, Cbla type113
HP:0002793HP:0002793Abnormal pattern of respiration0MMAB CL E G H32662519331OMIM:251110Methylmalonic aciduria, Cblb type127
HP:0002793HP:0002793Abnormal pattern of respiration0MMACHC CL E G H2597424525ORPHA:79282Methylmalonic acidemia with homocystinuria, type cblC101
HP:0002793HP:0002793Abnormal pattern of respiration0MMUT CL E G H45947526OMIM:251000Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
HP:0002793HP:0002793Abnormal pattern of respiration0MMUT CL E G H45947526ORPHA:79312Vitamin B12-unresponsive methylmalonic acidemia type mut-
HP:0002793HP:0002793Abnormal pattern of respiration0MMUT CL E G H45947526ORPHA:289916Vitamin B12-unresponsive methylmalonic acidemia type mut0
HP:0002793HP:0002793Abnormal pattern of respiration0MOGS CL E G H784124862OMIM:606056Congenital disorder of glycosylation, type IIB37
HP:0002793HP:0002793Abnormal pattern of respiration0MOGS CL E G H784124862ORPHA:79330MOGS-CDG37
HP:0002793HP:0002793Abnormal pattern of respiration0MPC1 CL E G H5166021606OMIM:614741Mitochondrial pyruvate carrier deficiency6
HP:0002793HP:0002793Abnormal pattern of respiration0MPV17 CL E G H43587224OMIM:256810Navajo neurohepatopathy56
HP:0002793HP:0002793Abnormal pattern of respiration0MRPL3 CL E G H1122210379OMIM:614582COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD913
HP:0002793HP:0002793Abnormal pattern of respiration0MRPS34 CL E G H6599316618OMIM:617664Combined oxidative phosphorylation deficiency 321
HP:0002793HP:0002793Abnormal pattern of respiration0MSX1 CL E G H44877391ORPHA:141291Cleft lip and alveolusHP:0040282 - Frequent12
HP:0002793HP:0002793Abnormal pattern of respiration0MTFMT CL E G H12326329666ORPHA:255241Leigh syndrome with leukodystrophy29
HP:0002793HP:0002793Abnormal pattern of respiration0MTHFR CL E G H45247436ORPHA:395Homocystinuria due to methylene tetrahydrofolate reductase deficiency183
HP:0002793HP:0002793Abnormal pattern of respiration0MTM1 CL E G H45347448ORPHA:596X-linked centronuclear myopathy185
HP:0002793HP:0002793Abnormal pattern of respiration0MUC5B CL E G H7278977516ORPHA:2032Idiopathic pulmonary fibrosis133
HP:0002793HP:0002793Abnormal pattern of respiration0MUC5B CL E G H7278977516OMIM:178500Pulmonary fibrosis, idiopathic133
HP:0002793HP:0002793Abnormal pattern of respiration0MUSK CL E G H45937525ORPHA:98913Postsynaptic congenital myasthenic syndromes72
HP:0002793HP:0002793Abnormal pattern of respiration0MYBPC3 CL E G H46077551OMIM:115197Cardiomyopathy, familial hypertrophic, 41143
HP:0002793HP:0002793Abnormal pattern of respiration0MYH11 CL E G H46297569ORPHA:229Familial aortic dissection418
HP:0002793HP:0002793Abnormal pattern of respiration0MYH11 CL E G H46297569ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection418
HP:0002793HP:0002793Abnormal pattern of respiration0MYH6 CL E G H46247576ORPHA:99103Atrial septal defect, ostium secundum type452
HP:0002793HP:0002793Abnormal pattern of respiration0MYH7 CL E G H46257577ORPHA:324604Classic multiminicore myopathy1269
HP:0002793HP:0002793Abnormal pattern of respiration0MYH7 CL E G H46257577OMIM:255160Myopathy, myosin storage, autosomal recessive1269
HP:0002793HP:0002793Abnormal pattern of respiration0MYL1 CL E G H46327582OMIM:618414Myopathy, congenital, with fast-twitch (type ii) fiber atrophy
HP:0002793HP:0002793Abnormal pattern of respiration0MYL2 CL E G H46337583OMIM:608758Cardiomyopathy, familial hypertrophic, 10131
HP:0002793HP:0002793Abnormal pattern of respiration0MYL3 CL E G H46347584OMIM:608751Cardiomyopathy, familial hypertrophic, 895
HP:0002793HP:0002793Abnormal pattern of respiration0MYLK CL E G H46387590ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection326
HP:0002793HP:0002793Abnormal pattern of respiration0MYO1H CL E G H28344613879OMIM:619482CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2
HP:0002793HP:0002793Abnormal pattern of respiration0MYO9A CL E G H46497608OMIM:618198Myasthenic syndrome, congenital, 24, presynaptic
HP:0002793HP:0002793Abnormal pattern of respiration0MYO9A CL E G H46497608ORPHA:98914Presynaptic congenital myasthenic syndromes
HP:0002793HP:0002793Abnormal pattern of respiration0MYOZ2 CL E G H517781330OMIM:613838Cardiomyopathy, familial hypertrophic, 1681
HP:0002793HP:0002793Abnormal pattern of respiration0MYPN CL E G H8466523246ORPHA:171881Cap myopathy217
HP:0002793HP:0002793Abnormal pattern of respiration0MYPN CL E G H8466523246ORPHA:75249Familial isolated restrictive cardiomyopathy217
HP:0002793HP:0002793Abnormal pattern of respiration0NAA10 CL E G H826018704OMIM:300855Ogden syndrome23
HP:0002793HP:0002793Abnormal pattern of respiration0NABP1 CL E G H6485926232ORPHA:520Acute promyelocytic leukemia
HP:0002793HP:0002793Abnormal pattern of respiration0NACC1 CL E G H11293920967OMIM:617393Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination1
HP:0002793HP:0002793Abnormal pattern of respiration0NACC1 CL E G H11293920967ORPHA:500545Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract1
HP:0002793HP:0002793Abnormal pattern of respiration0NADK2 CL E G H13368626404ORPHA:431361Progressive encephalopathy with leukodystrophy due to DECR deficiency14
HP:0002793HP:0002793Abnormal pattern of respiration0NAGS CL E G H16241717996ORPHA:927Hyperammonemia due to N-acetylglutamate synthase deficiency36
HP:0002793HP:0002793Abnormal pattern of respiration0NAGS CL E G H16241717996OMIM:237310N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY36
HP:0002793HP:0002793Abnormal pattern of respiration0NALCN CL E G H25923219082ORPHA:371364Hypotonia-speech impairment-severe cognitive delay syndrome48
HP:0002793HP:0002793Abnormal pattern of respiration0NAXE CL E G H12824018453OMIM:617186Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 19
HP:0002793HP:0002793Abnormal pattern of respiration0ND1 CL E G H45357455ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0002793HP:0002793Abnormal pattern of respiration0ND2 CL E G H45367456ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0002793HP:0002793Abnormal pattern of respiration0ND3 CL E G H45377458ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0002793HP:0002793Abnormal pattern of respiration0ND4 CL E G H45387459ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0002793HP:0002793Abnormal pattern of respiration0ND5 CL E G H45407461ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0002793HP:0002793Abnormal pattern of respiration0ND6 CL E G H45417462ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0002793HP:0002793Abnormal pattern of respiration0NDE1 CL E G H5482017619ORPHA:89844Lissencephaly syndrome, Norman-Roberts type96
HP:0002793HP:0002793Abnormal pattern of respiration0NDN CL E G H46927675ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
HP:0002793HP:0002793Abnormal pattern of respiration0NDN CL E G H46927675ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
HP:0002793HP:0002793Abnormal pattern of respiration0NDN CL E G H46927675ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
HP:0002793HP:0002793Abnormal pattern of respiration0NDUFA10 CL E G H47057684ORPHA:255241Leigh syndrome with leukodystrophy91
HP:0002793HP:0002793Abnormal pattern of respiration0NDUFA11 CL E G H12632820371OMIM:618236Mitochondrial complex I deficiency, nuclear type 1432
HP:0002793HP:0002793Abnormal pattern of respiration0NDUFA12 CL E G H5596723987ORPHA:255241Leigh syndrome with leukodystrophy7
HP:0002793HP:0002793Abnormal pattern of respiration0NDUFA13 CL E G H5107917194ORPHA:255241Leigh syndrome with leukodystrophy3
HP:0002793HP:0002793Abnormal pattern of respiration0NDUFA2 CL E G H46957685ORPHA:255241Leigh syndrome with leukodystrophy19
HP:0002793HP:0002793Abnormal pattern of respiration0NDUFA2 CL E G H46957685OMIM:618235Mitochondrial complex I deficiency, nuclear type 1319
HP:0002793HP:0002793Abnormal pattern of respiration0NDUFA4 CL E G H46977687ORPHA:255241Leigh syndrome with leukodystrophy4
HP:0002793HP:0002793Abnormal pattern of respiration0NDUFA6 CL E G H47007690OMIM:618253Mitochondrial complex I deficiency, nuclear type 331
HP:0002793HP:0002793Abnormal pattern of respiration0NDUFA8 CL E G H47027692OMIM:619272MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0002793HP:0002793Abnormal pattern of respiration0NDUFA9 CL E G H47047693ORPHA:255241Leigh syndrome with leukodystrophy27
HP:0002793HP:0002793Abnormal pattern of respiration0NDUFAF2 CL E G H9194228086ORPHA:255241Leigh syndrome with leukodystrophy26
HP:0002793HP:0002793Abnormal pattern of respiration0NDUFAF2 CL E G H9194228086OMIM:618233Mitochondrial complex I deficiency, nuclear type 1026
HP:0002793HP:0002793Abnormal pattern of respiration0NDUFAF3 CL E G H2591529918ORPHA:70474Leigh syndrome with cardiomyopathy31
HP:0002793HP:0002793Abnormal pattern of respiration0NDUFAF5 CL E G H7913315899ORPHA:255241Leigh syndrome with leukodystrophy34
HP:0002793HP:0002793Abnormal pattern of respiration0NDUFAF6 CL E G H13768228625ORPHA:255241Leigh syndrome with leukodystrophy39
HP:0002793HP:0002793Abnormal pattern of respiration0NDUFB11 CL E G H5453920372ORPHA:2556Microphthalmia with linear skin defects syndrome3
HP:0002793HP:0002793Abnormal pattern of respiration0NDUFB8 CL E G H47147703ORPHA:70474Leigh syndrome with cardiomyopathy
HP:0002793HP:0002793Abnormal pattern of respiration0NDUFS1 CL E G H47197707ORPHA:255241Leigh syndrome with leukodystrophy81
HP:0002793HP:0002793Abnormal pattern of respiration0NDUFS1 CL E G H47197707OMIM:618226Mitochondrial complex I deficiency, nuclear type 581
HP:0002793HP:0002793Abnormal pattern of respiration0NDUFS2 CL E G H47207708ORPHA:70474Leigh syndrome with cardiomyopathy65
HP:0002793HP:0002793Abnormal pattern of respiration0NDUFS2 CL E G H47207708ORPHA:255241Leigh syndrome with leukodystrophy65
HP:0002793HP:0002793Abnormal pattern of respiration0NDUFS3 CL E G H47227710ORPHA:255241Leigh syndrome with leukodystrophy22
HP:0002793HP:0002793Abnormal pattern of respiration0NDUFS4 CL E G H47247711ORPHA:255241Leigh syndrome with leukodystrophy27
HP:0002793HP:0002793Abnormal pattern of respiration0NDUFS4 CL E G H47247711OMIM:252010Mitochondrial complex I deficiency, nuclear type 127
HP:0002793HP:0002793Abnormal pattern of respiration0NDUFS6 CL E G H47267713OMIM:618232Mitochondrial complex I deficiency, nuclear type 921
HP:0002793HP:0002793Abnormal pattern of respiration0NDUFS7 CL E G H3742917714ORPHA:255241Leigh syndrome with leukodystrophy38
HP:0002793HP:0002793Abnormal pattern of respiration0NDUFS8 CL E G H47287715ORPHA:255241Leigh syndrome with leukodystrophy42
HP:0002793HP:0002793Abnormal pattern of respiration0NDUFS8 CL E G H47287715OMIM:618222Mitochondrial complex I deficiency, nuclear type 242
HP:0002793HP:0002793Abnormal pattern of respiration0NDUFV1 CL E G H47237716ORPHA:255241Leigh syndrome with leukodystrophy74
HP:0002793HP:0002793Abnormal pattern of respiration0NDUFV1 CL E G H47237716OMIM:618225Mitochondrial complex I deficiency, nuclear type 474
HP:0002793HP:0002793Abnormal pattern of respiration0NDUFV2 CL E G H47297717ORPHA:255241Leigh syndrome with leukodystrophy27
HP:0002793HP:0002793Abnormal pattern of respiration0NEB CL E G H47037720ORPHA:399103Distal nebulin myopathy745
HP:0002793HP:0002793Abnormal pattern of respiration0NEB CL E G H47037720OMIM:256030Nemaline myopathy 2, autosomal recessive745
HP:0002793HP:0002793Abnormal pattern of respiration0NEB CL E G H47037720ORPHA:171436Typical nemaline myopathy745
HP:0002793HP:0002793Abnormal pattern of respiration0NECTIN1 CL E G H58189706ORPHA:141291Cleft lip and alveolusHP:0040282 - Frequent4
HP:0002793HP:0002793Abnormal pattern of respiration0NEFH CL E G H47447737ORPHA:803Amyotrophic lateral sclerosis24
HP:0002793HP:0002793Abnormal pattern of respiration0NEFH CL E G H47447737OMIM:105400Amyotrophic lateral sclerosis 124
HP:0002793HP:0002793Abnormal pattern of respiration0NEK1 CL E G H47507744ORPHA:803Amyotrophic lateral sclerosis101
HP:0002793HP:0002793Abnormal pattern of respiration0NEK1 CL E G H47507744ORPHA:2751Orofaciodigital syndrome type 2101
HP:0002793HP:0002793Abnormal pattern of respiration0NEMF CL E G H914710663OMIM:619099INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND AXONAL PERIPHERAL NEUROPATHY; IDDSAPN1
HP:0002793HP:0002793Abnormal pattern of respiration0NFIX CL E G H47847788OMIM:602535Marshall-Smith syndrome40
HP:0002793HP:0002793Abnormal pattern of respiration0NGLY1 CL E G H5576817646ORPHA:404454Alacrimia-choreoathetosis-liver dysfunction syndrome32
HP:0002793HP:0002793Abnormal pattern of respiration0NGLY1 CL E G H5576817646OMIM:615273Congenital disorder of deglycosylation32
HP:0002793HP:0002793Abnormal pattern of respiration0NHLRC2 CL E G H37435424731OMIM:618278Fibrosis, neurodegeneration, and cerebral angiomatosis
HP:0002793HP:0002793Abnormal pattern of respiration0NKX2-1 CL E G H708011825ORPHA:209905Brain-lung-thyroid syndrome51
HP:0002793HP:0002793Abnormal pattern of respiration0NKX2-1 CL E G H708011825OMIM:610978Choreoathetosis, hypothyroidism, and neonatal respiratory distress51
HP:0002793HP:0002793Abnormal pattern of respiration0NKX2-5 CL E G H14822488ORPHA:99103Atrial septal defect, ostium secundum type90
HP:0002793HP:0002793Abnormal pattern of respiration0NKX2-5 CL E G H14822488ORPHA:871Familial progressive cardiac conduction defect90
HP:0002793HP:0002793Abnormal pattern of respiration0NKX2-6 CL E G H13781432940ORPHA:3384Truncus arteriosus3
HP:0002793HP:0002793Abnormal pattern of respiration0NOD2 CL E G H641275331ORPHA:90340Blau syndrome187
HP:0002793HP:0002793Abnormal pattern of respiration0NODAL CL E G H48387865ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent45
HP:0002793HP:0002793Abnormal pattern of respiration0NODAL CL E G H48387865ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional45
HP:0002793HP:0002793Abnormal pattern of respiration0NODAL CL E G H48387865ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent45
HP:0002793HP:0002793Abnormal pattern of respiration0NODAL CL E G H48387865ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent45
HP:0002793HP:0002793Abnormal pattern of respiration0NONO CL E G H48417871ORPHA:466791Macrocephaly-intellectual disability-left ventricular non compaction syndrome10
HP:0002793HP:0002793Abnormal pattern of respiration0NPAP1 CL E G H237421190OMIM:176270Prader-Willi syndrome1
HP:0002793HP:0002793Abnormal pattern of respiration0NPHP1 CL E G H48677905ORPHA:220497Joubert syndrome with renal defectHP:0040281 - Very frequent85
HP:0002793HP:0002793Abnormal pattern of respiration0NPM1 CL E G H48697910ORPHA:520Acute promyelocytic leukemia12
HP:0002793HP:0002793Abnormal pattern of respiration0NPPA CL E G H48787939ORPHA:1344Atrial standstill13
HP:0002793HP:0002793Abnormal pattern of respiration0NPPA CL E G H48787939OMIM:615745Atrial standstill 213
HP:0002793HP:0002793Abnormal pattern of respiration0NRXN1 CL E G H93788008OMIM:614325Pitt-Hopkins-Like syndrome 2470
HP:0002793HP:0002793Abnormal pattern of respiration0NTNG1 CL E G H2285423319ORPHA:3095Atypical Rett syndromeHP:0040281 - Very frequent1
HP:0002793HP:0002793Abnormal pattern of respiration0NUMA1 CL E G H49268059ORPHA:520Acute promyelocytic leukemia
HP:0002793HP:0002793Abnormal pattern of respiration0NUP214 CL E G H80218064OMIM:618426Encephalopathy, acute, infection-induced, susceptibility to, 91
HP:0002793HP:0002793Abnormal pattern of respiration0OCA2 CL E G H49488101ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15121
HP:0002793HP:0002793Abnormal pattern of respiration0OCA2 CL E G H49488101ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1121
HP:0002793HP:0002793Abnormal pattern of respiration0OCA2 CL E G H49488101ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2121
HP:0002793HP:0002793Abnormal pattern of respiration0OFD1 CL E G H84812567ORPHA:2754Orofaciodigital syndrome type 6201
HP:0002793HP:0002793Abnormal pattern of respiration0OPA1 CL E G H49768140OMIM:616896MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE); MTDPS14214
HP:0002793HP:0002793Abnormal pattern of respiration0OPTN CL E G H1013317142ORPHA:803Amyotrophic lateral sclerosis62
HP:0002793HP:0002793Abnormal pattern of respiration0ORC1 CL E G H49988487ORPHA:2554Ear-patella-short stature syndrome53
HP:0002793HP:0002793Abnormal pattern of respiration0ORC1 CL E G H49988487OMIM:224690Meier-Gorlin syndrome 153
HP:0002793HP:0002793Abnormal pattern of respiration0ORC4 CL E G H50008490ORPHA:2554Ear-patella-short stature syndrome21
HP:0002793HP:0002793Abnormal pattern of respiration0ORC6 CL E G H2359417151ORPHA:2554Ear-patella-short stature syndrome39
HP:0002793HP:0002793Abnormal pattern of respiration0ORC6 CL E G H2359417151OMIM:613803Meier-Gorlin syndrome 339
HP:0002793HP:0002793Abnormal pattern of respiration0OTX2 CL E G H50158522ORPHA:990Agnathia-holoprosencephaly-situs inversus syndrome41
HP:0002793HP:0002793Abnormal pattern of respiration0OXCT1 CL E G H50198527OMIM:245050Succinyl CoA:3-oxoacid CoA transferase deficiency52
HP:0002793HP:0002793Abnormal pattern of respiration0P4HTM CL E G H5468128858OMIM:618493Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
HP:0002793HP:0002793Abnormal pattern of respiration0PAM16 CL E G H5102529679OMIM:613320Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type1
HP:0002793HP:0002793Abnormal pattern of respiration0PARN CL E G H50738609ORPHA:2032Idiopathic pulmonary fibrosis26
HP:0002793HP:0002793Abnormal pattern of respiration0PCCA CL E G H50958653OMIM:606054Propionic acidemia96
HP:0002793HP:0002793Abnormal pattern of respiration0PCCB CL E G H50968654OMIM:606054Propionic acidemia92
HP:0002793HP:0002793Abnormal pattern of respiration0PCGF2 CL E G H770312929OMIM:618371Turnpenny-Fry syndrome
HP:0002793HP:0002793Abnormal pattern of respiration0PCK1 CL E G H51058724OMIM:261680Phosphoenolpyruvate carboxykinase deficiency, cytosolic53
HP:0002793HP:0002793Abnormal pattern of respiration0PCSK9 CL E G H25573820001ORPHA:391665Homozygous familial hypercholesterolemia178
HP:0002793HP:0002793Abnormal pattern of respiration0PDE6D CL E G H51478788ORPHA:2754Orofaciodigital syndrome type 61
HP:0002793HP:0002793Abnormal pattern of respiration0PDHA1 CL E G H51608806ORPHA:255241Leigh syndrome with leukodystrophy88
HP:0002793HP:0002793Abnormal pattern of respiration0PDHA1 CL E G H51608806OMIM:312170Pyruvate dehydrogenase e1-alpha deficiency88
HP:0002793HP:0002793Abnormal pattern of respiration0PET100 CL E G H10013180140038ORPHA:255241Leigh syndrome with leukodystrophy6
HP:0002793HP:0002793Abnormal pattern of respiration0PEX13 CL E G H51948855OMIM:614883Peroxisome biogenesis disorder 11A (Zellweger)66
HP:0002793HP:0002793Abnormal pattern of respiration0PEX5 CL E G H58309719OMIM:214110Peroxisome biogenesis disorder 2A (Zellweger)99
HP:0002793HP:0002793Abnormal pattern of respiration0PFN1 CL E G H52168881ORPHA:803Amyotrophic lateral sclerosis6
HP:0002793HP:0002793Abnormal pattern of respiration0PGM1 CL E G H52368905OMIM:614921Congenital disorder of glycosylation, type It58
HP:0002793HP:0002793Abnormal pattern of respiration0PHOX2B CL E G H89299143OMIM:209880Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease86
HP:0002793HP:0002793Abnormal pattern of respiration0PHOX2B CL E G H89299143ORPHA:99803Haddad syndrome86
HP:0002793HP:0002793Abnormal pattern of respiration0PI4KA CL E G H52978983ORPHA:98889Bilateral perisylvian polymicrogyria11
HP:0002793HP:0002793Abnormal pattern of respiration0PIBF1 CL E G H1046423352ORPHA:475Joubert syndromeHP:0040281 - Very frequent4
HP:0002793HP:0002793Abnormal pattern of respiration0PIBF1 CL E G H1046423352OMIM:617767Joubert syndrome 334
HP:0002793HP:0002793Abnormal pattern of respiration0PIGA CL E G H52778957ORPHA:447Paroxysmal nocturnal hemoglobinuria46
HP:0002793HP:0002793Abnormal pattern of respiration0PIGT CL E G H5160414938ORPHA:369837Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome12
HP:0002793HP:0002793Abnormal pattern of respiration0PIGT CL E G H5160414938OMIM:615399Paroxysmal nocturnal hemoglobinuria 212
HP:0002793HP:0002793Abnormal pattern of respiration0PKHD1 CL E G H53149016ORPHA:731Autosomal recessive polycystic kidney disease563
HP:0002793HP:0002793Abnormal pattern of respiration0PKP2 CL E G H53189024OMIM:609040Arrhythmogenic right ventricular dysplasia, familial, 9406
HP:0002793HP:0002793Abnormal pattern of respiration0PLA2G6 CL E G H83989039ORPHA:35069Infantile neuroaxonal dystrophy133
HP:0002793HP:0002793Abnormal pattern of respiration0PLAA CL E G H93739043OMIM:617527Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies3
HP:0002793HP:0002793Abnormal pattern of respiration0PLAA CL E G H93739043ORPHA:521426PLAA-associated neurodevelopmental disorder3
HP:0002793HP:0002793Abnormal pattern of respiration0PLCB4 CL E G H53329059ORPHA:137888Auriculocondylar syndrome82
HP:0002793HP:0002793Abnormal pattern of respiration0PLCB4 CL E G H53329059OMIM:614669Auriculocondylar syndrome 282
HP:0002793HP:0002793Abnormal pattern of respiration0PLCH1 CL E G H2300729185ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent
HP:0002793HP:0002793Abnormal pattern of respiration0PLEC CL E G H53399069ORPHA:254361Plectin-related limb-girdle muscular dystrophy R17759
HP:0002793HP:0002793Abnormal pattern of respiration0PLPBP CL E G H112129457OMIM:617290Epilepsy, early-onset, vitamin b6-dependent6
HP:0002793HP:0002793Abnormal pattern of respiration0PLXND1 CL E G H231299107ORPHA:3384Truncus arteriosus
HP:0002793HP:0002793Abnormal pattern of respiration0PML CL E G H53719113ORPHA:520Acute promyelocytic leukemia3
HP:0002793HP:0002793Abnormal pattern of respiration0PMM2 CL E G H53739115ORPHA:79318PMM2-CDG150
HP:0002793HP:0002793Abnormal pattern of respiration0PNKD CL E G H259539153ORPHA:98810Paroxysmal non-kinesigenic dyskinesia66
HP:0002793HP:0002793Abnormal pattern of respiration0PNPLA2 CL E G H5710430802ORPHA:565612Triglyceride deposit cardiomyovasculopathy65
HP:0002793HP:0002793Abnormal pattern of respiration0POGZ CL E G H2312618801OMIM:616364White-Sutton syndrome35
HP:0002793HP:0002793Abnormal pattern of respiration0POGZ CL E G H2312618801ORPHA:468678White-Sutton syndrome35
HP:0002793HP:0002793Abnormal pattern of respiration0POLG CL E G H54289179ORPHA:254892Autosomal dominant progressive external ophthalmoplegia464
HP:0002793HP:0002793Abnormal pattern of respiration0POLG2 CL E G H112329180ORPHA:254892Autosomal dominant progressive external ophthalmoplegia45
HP:0002793HP:0002793Abnormal pattern of respiration0POMT1 CL E G H105859202ORPHA:86812POMT1-related limb-girdle muscular dystrophy R11213
HP:0002793HP:0002793Abnormal pattern of respiration0PON1 CL E G H54449204ORPHA:803Amyotrophic lateral sclerosis4
HP:0002793HP:0002793Abnormal pattern of respiration0PON2 CL E G H54459205ORPHA:803Amyotrophic lateral sclerosis2
HP:0002793HP:0002793Abnormal pattern of respiration0PON3 CL E G H54469206ORPHA:803Amyotrophic lateral sclerosis1
HP:0002793HP:0002793Abnormal pattern of respiration0PPARGC1A CL E G H108919237ORPHA:803Amyotrophic lateral sclerosis1
HP:0002793HP:0002793Abnormal pattern of respiration0PPP1R21 CL E G H12928530595OMIM:619383NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0002793HP:0002793Abnormal pattern of respiration0PRKAR1A CL E G H55739388ORPHA:520Acute promyelocytic leukemia134
HP:0002793HP:0002793Abnormal pattern of respiration0PRKAR1A CL E G H55739388ORPHA:615Familial atrial myxoma134
HP:0002793HP:0002793Abnormal pattern of respiration0PRKAR1B CL E G H55759390OMIM:619680MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS2
HP:0002793HP:0002793Abnormal pattern of respiration0PRKCSH CL E G H55899411OMIM:174050Polycystic liver disease 1 with or without kidney cysts63
HP:0002793HP:0002793Abnormal pattern of respiration0PRKG1 CL E G H55929414ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection41
HP:0002793HP:0002793Abnormal patte