Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Phenotypic abnormality (HP:0000118)

Parent Node:
Abnormality of the respiratory system (HP:0002086)

..Starting node
..Abnormal respiratory system physiology (HP:0002795)

Term ID:

2795

Name:

Abnormal respiratory system physiology

Synonym:

Abnormal respiration; Functional respiratory abnormality; Impaired pulmonary function; Respiratory problem

Definition:

Comments:

Reference:

HP:0002795

Genes and Diseases:

Child Nodes:

........

Cyanosis (HP:0000961)

................... HP:0001063 Acrocyanosis
................... HP:0200048 Cyanotic episode

........

Restrictive ventilatory defect (HP:0002091)

................... HP:0002111 Restrictive deficit on pulmonary function testing

........

Respiratory insufficiency (HP:0002093)

................... HP:0002111 Restrictive deficit on pulmonary function testing
................... HP:0002643 Neonatal respiratory distress
................... HP:0002747 Respiratory insufficiency due to muscle weakness
................... HP:0002878 Respiratory failure
................... HP:0004878 Intercostal muscle weakness
................... HP:0004887 Respiratory failure requiring assisted ventilation
................... HP:0005943 Respiratory arrest
................... HP:0200073 Respiratory insufficiency due to defective ciliary clearance

........

Dyspnea (HP:0002094)

................... HP:0002098 Respiratory distress
................... HP:0002875 Exertional dyspnea
................... HP:0012763 Paroxysmal dyspnea
................... HP:0012764 Orthopnea

........

Asthma (HP:0002099)

................... HP:0012042 Aspirin-induced asthma
................... HP:0012652 Exercise-induced asthma
................... HP:0012653 Status asthmaticus

........

Upper airway obstruction (HP:0002781)

................... HP:0012271 Episodic upper airway obstruction

........

Reduced vital capacity (HP:0002792)

........

Abnormal pattern of respiration (HP:0002793)

................... HP:0002104 Apnea
................... HP:0002789 Tachypnea
................... HP:0002791 Hypoventilation
................... HP:0002883 Hyperventilation
................... HP:0012195 Irregular respiration
................... HP:0012196 Cheyne-Stokes respiration
................... HP:0030207 Paradoxical respiration
................... HP:0031503 Night gasping
................... HP:0040213 Hypopnea

........

Aspiration (HP:0002835)

........

Weakness of muscles of respiration (HP:0004347)

................... HP:0002203 Respiratory paralysis
................... HP:0002747 Respiratory insufficiency due to muscle weakness
................... HP:0012496 Reduced maximal inspiratory pressure
................... HP:0012497 Reduced maximal expiratory pressure

........

Decreased pulmonary function (HP:0005952)

................... HP:0006520 Progressive pulmonary function impairment

........

Breathing dysregulation (HP:0005957)

................... HP:0002790 Neonatal breathing dysregulation
................... HP:0005947 Decreased sensitivity to hypoxemia

........

Obstructive lung disease (HP:0006536)

................... HP:0006510 Chronic obstructive pulmonary disease
................... HP:0006541 Chronic obstructive airway disease from birth
................... HP:0030877 Obstructive deficit on pulmonary function testing

........

Abnormal respiratory motile cilium physiology (HP:0012261)

................... HP:0012262 Abnormal ciliary motility
................... HP:0200073 Respiratory insufficiency due to defective ciliary clearance

........

Abnormal blood gas level (HP:0012415)

................... HP:0012416 Hypercapnia
................... HP:0012417 Hypocapnia
................... HP:0012418 Hypoxemia
................... HP:0012419 Hyperoxemia

........

Cough (HP:0012735)

................... HP:0031245 Productive cough
................... HP:0031246 Nonproductive cough
................... HP:0031247 Whooping cough

........

Tracheal tug on inspiration (HP:0025008)

........

Sneeze (HP:0025095)

................... HP:0025096 Paroxysmal sneezing

........

Snoring (HP:0025267)

................... HP:0025372 Loud snoring

........

Abnormal bronchus physiology (HP:0025427)

................... HP:0025428 Bronchospasm

........

Abnormal breath sound (HP:0030829)

................... HP:0010307 Stridor
................... HP:0030828 Wheezing
................... HP:0030830 Rales
................... HP:0030831 Rhonchi

........

Abnormality of pulmonary circulation (HP:0030875)

................... HP:0002204 Pulmonary embolism
................... HP:0004890 Elevated pulmonary artery pressure
................... HP:0005317 Increased pulmonary vascular resistance
................... HP:0030876 Increased pulmonary capillary wedge pressure
................... HP:0030950 Pulmonary venous hypertension
................... HP:0031225 Intrapulmonary shunt

........

Abnormality on pulmonary function testing (HP:0030878)

................... HP:0002111 Restrictive deficit on pulmonary function testing
................... HP:0030877 Obstructive deficit on pulmonary function testing
................... HP:0045049 Abnormal DLCO

........

Abnormal response to short acting pulmonary vasodilator (HP:0030893)

................... HP:0030894 Insufficient response to short acting pulmonary vasodilator

........

Abnormal nasal mucus secretion (HP:0031416)

................... HP:0031417 Rhinorrhea

........

Abnormal mucociliary clearance (HP:0031602)

................... HP:0031603 Impaired nasal mucociliary clearance

........

Recurrent singultus (HP:0100247)

Sister Nodes:

Abnormal respiratory system morphology (HP:0012252)

Neoplasm of the respiratory system (HP:0100606)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	AAAS CL E G H	8086	13666	ORPHA:869	Triple A syndrome			57
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	AARS1 CL E G H	16	20	OMIM:619661	LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS 2; HDLS2
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ABCA12 CL E G H	26154	14637	ORPHA:457	Harlequin ichthyosis			130
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ABCA3 CL E G H	21	33	ORPHA:2032	Idiopathic pulmonary fibrosis			147
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ABCA3 CL E G H	21	33	ORPHA:70587	Infant acute respiratory distress syndrome			147
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ABCA3 CL E G H	21	33	OMIM:610921	Surfactant metabolism dysfunction, pulmonary, 3			147
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ABCB11 CL E G H	8647	42	ORPHA:69665	Intrahepatic cholestasis of pregnancy			146
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ABCB4 CL E G H	5244	45	ORPHA:69665	Intrahepatic cholestasis of pregnancy			111
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy			415
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ABCC6 CL E G H	368	57	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE			415
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ABCC9 CL E G H	10060	60	OMIM:619719	INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS			254
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type			53
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ABCG5 CL E G H	64240	13886	ORPHA:391665	Homozygous familial hypercholesterolemia			67
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ABCG8 CL E G H	64241	13887	ORPHA:391665	Homozygous familial hypercholesterolemia			76
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency			197
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ACADS CL E G H	35	90	ORPHA:26792	Short chain acyl-CoA dehydrogenase deficiency			90
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ACADSB CL E G H	36	91	OMIM:610006	2-Methylbutyryl-Coa dehydrogenase deficiency			111
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency			200
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ACADVL CL E G H	37	92	OMIM:201475	Very long-chain acyl-CoA dehydrogenase deficiency			200
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ACAN CL E G H	176	319	ORPHA:171866	Spondyloepimetaphyseal dysplasia, aggrecan type	HP:0040282 - Frequent		34
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ACAN CL E G H	176	319	OMIM:612813	Spondyloepimetaphyseal dysplasia, Aggrecan type			34
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ACAT1 CL E G H	38	93	ORPHA:134	Beta-ketothiolase deficiency			91
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ACE CL E G H	1636	2707	OMIM:267430	Renal tubular dysgenesis			113
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ACOX1 CL E G H	51	119	OMIM:618960	MITCHELL SYNDROME; MITCH			120
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ACOX1 CL E G H	51	119	ORPHA:2971	Peroxisomal acyl-CoA oxidase deficiency			120
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation			16
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy			96
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy			96
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ACTA1 CL E G H	58	129	ORPHA:171433	Intermediate nemaline myopathy			96
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ACTA1 CL E G H	58	129	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			96
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3			96
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ACTA1 CL E G H	58	129	ORPHA:97244	Rigid spine syndrome			96
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ACTA1 CL E G H	58	129	ORPHA:171430	Severe congenital nemaline myopathy			96
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ACTA1 CL E G H	58	129	ORPHA:171436	Typical nemaline myopathy			96
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ACTA2 CL E G H	59	130	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			94
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ACTA2 CL E G H	59	130	OMIM:613834	Multisystemic smooth muscle dysfunction syndrome			94
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ACTC1 CL E G H	70	143	ORPHA:99103	Atrial septal defect, ostium secundum type			208
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ACTC1 CL E G H	70	143	OMIM:612098	Cardiomyopathy, familial hypertrophic, 11			208
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ACTN2 CL E G H	88	164	OMIM:618654	MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES; MYOCOZ			307
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ACVR1 CL E G H	90	171	ORPHA:337	Fibrodysplasia ossificans progressiva			49
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ACVR1 CL E G H	90	171	OMIM:135100	Fibrodysplasia ossificans progressiva			49
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ACVRL1 CL E G H	94	175	ORPHA:774	Hereditary hemorrhagic telangiectasia			178
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2			178
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ACY1 CL E G H	95	177	ORPHA:137754	Neurological conditions associated with aminoacylase 1 deficiency			13
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ADA CL E G H	100	186	OMIM:102700	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency			75
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ADAM22 CL E G H	53616	201	OMIM:617933	Epileptic encephalopathy, early infantile, 61
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ADAMTS13 CL E G H	11093	1366	OMIM:274150	Thrombotic thrombocytopenic purpura, hereditary			129
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome			1
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ADCY6 CL E G H	112	237	ORPHA:2680	Hypomyelination neuropathy-arthrogryposis syndrome			2
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria			88
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome			47
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ADPRS CL E G H	54936	21304	OMIM:618170	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ADRB2 CL E G H	154	286	OMIM:600807	Asthma, susceptibility to			5
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS			1
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome			6
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome			6
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	AGGF1 CL E G H	55109	24684	ORPHA:90308	Klippel-Trénaunay syndrome			1
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	AGK CL E G H	55750	21869	OMIM:212350	Sengers syndrome			82
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	AGO2 CL E G H	27161	3263	OMIM:619149	LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	AGRN CL E G H	375790	329	OMIM:615120	Myasthenic syndrome, congenital, 8			127
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			127
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes			127
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	AGT CL E G H	183	333	OMIM:267430	Renal tubular dysgenesis			48
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	AGTPBP1 CL E G H	23287	17258	OMIM:618276	Neurodegeneration, childhood-onset, with cerebellar atrophy			1
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	AGTPBP1 CL E G H	23287	17258	ORPHA:2254	Pontocerebellar hypoplasia type 1			1
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	AGTR1 CL E G H	185	336	OMIM:267430	Renal tubular dysgenesis			33
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	AHCY CL E G H	191	343	ORPHA:88618	S-adenosylhomocysteine hydrolase deficiency			31
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome			36
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	AHDC1 CL E G H	27245	25230	OMIM:615829	Xia-Gibbs syndrome			36
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	AHI1 CL E G H	54806	21575	ORPHA:475	Joubert syndrome			175
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	AHI1 CL E G H	54806	21575	OMIM:608629	Joubert syndrome 3			175
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	AHI1 CL E G H	54806	21575	ORPHA:220493	Joubert syndrome with ocular defect			175
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	AIFM1 CL E G H	9131	8768	OMIM:300816	Combined oxidative phosphorylation deficiency 6			60
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	AIFM1 CL E G H	9131	8768	ORPHA:238329	Severe X-linked mitochondrial encephalomyopathy			60
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	AIP CL E G H	9049	358	ORPHA:963	Acromegaly			95
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			1
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma			54
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome			54
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ALAD CL E G H	210	395	ORPHA:100924	Porphyria due to ALA dehydratase deficiency			62
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ALAD CL E G H	210	395	OMIM:612740	Porphyria, acute hepatic			62
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ALAS2 CL E G H	212	397	ORPHA:75563	X-linked sideroblastic anemia			72
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ALDH1A2 CL E G H	8854	15472	OMIM:620025
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ALDH7A1 CL E G H	501	877	OMIM:266100	Epilepsy, pyridoxine-dependent			227
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ALDH7A1 CL E G H	501	877	ORPHA:3006	Pyridoxine-dependent epilepsy			227
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ALG1 CL E G H	56052	18294	ORPHA:79327	ALG1-CDG			58
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ALG14 CL E G H	199857	28287	OMIM:619036	MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA			12
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG			93
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome			404
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome			404
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ALOX5 CL E G H	240	435	OMIM:600807	Asthma, susceptibility to			4
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ALPL CL E G H	249	438	OMIM:241500	Hypophosphatasia, infantile			126
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis			34
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ANG CL E G H	283	483	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		32
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ANXA11 CL E G H	311	535	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	AP3D1 CL E G H	8943	568	OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10; HPS10			1
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion			3179
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	APOB CL E G H	338	603	ORPHA:391665	Homozygous familial hypercholesterolemia			356
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ARCN1 CL E G H	372	649	OMIM:617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay			3
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome			147
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1			147
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ARL13B CL E G H	200894	25419	ORPHA:475	Joubert syndrome			62
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ARL13B CL E G H	200894	25419	OMIM:612291	JOUBERT SYNDROME 8; JBTS8			62
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ARL3 CL E G H	403	694	ORPHA:475	Joubert syndrome			1
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ARL3 CL E G H	403	694	OMIM:618161	JOUBERT SYNDROME 35; JBTS35			1
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1			29
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ARMC9 CL E G H	80210	20730	ORPHA:475	Joubert syndrome
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ARMC9 CL E G H	80210	20730	OMIM:617622	JOUBERT SYNDROME 30; JBTS30
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI			120
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome			1
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ARX CL E G H	170302	18060	OMIM:308350	Developmental and epileptic encephalopathy 1			166
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease			78
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ASAH1 CL E G H	427	735	OMIM:228000	Farber lipogranulomatosis			78
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ASAH1 CL E G H	427	735	OMIM:159950	Spinal muscular atrophy with progressive myoclonic epilepsy			78
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ASAH1 CL E G H	427	735	ORPHA:2590	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome			78
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ASCC1 CL E G H	51008	24268	OMIM:616867	Spinal muscular atrophy with congenital bone fractures 2			2
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ASCL1 CL E G H	429	738	ORPHA:99803	Haddad syndrome			15
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ASNS CL E G H	440	753	OMIM:615574	Asparagine synthetase deficiency			17
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome			145
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome			145
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ATAD1 CL E G H	84896	25903	OMIM:618011	Hyperekplexia 4
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ATL1 CL E G H	51062	11231	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1			71
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ATL3 CL E G H	25923	24526	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1			5
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies			16
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ATP11A CL E G H	23250	13552	ORPHA:2032	Idiopathic pulmonary fibrosis
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ATP13A3 CL E G H	79572	24113	OMIM:265400	Pulmonary hypertension, primary, autosomal recessive
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood			239
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ATP1A2 CL E G H	477	800	OMIM:619605	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98; DEE98			239
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood			150
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ATP1A3 CL E G H	478	801	OMIM:619606	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99			150
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ATP5F1A CL E G H	498	823	OMIM:616045	Combined oxidative phosphorylation deficiency 22
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ATP5F1A CL E G H	498	823	OMIM:615228	Mitochondrial complex V (atp synthase) deficiency, nuclear type 4
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome			5
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ATP8B1 CL E G H	5205	3706	OMIM:211600	Cholestasis, progressive familial intrahepatic 1			144
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ATP8B1 CL E G H	5205	3706	ORPHA:69665	Intrahepatic cholestasis of pregnancy			144
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ATRX CL E G H	546	886	ORPHA:231401	Alpha-thalassemia-myelodysplastic syndrome			169
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ATRX CL E G H	546	886	ORPHA:100075	Neuroendocrine tumor of stomach			169
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ATXN1 CL E G H	6310	10548	ORPHA:98755	Spinocerebellar ataxia type 1			19
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ATXN2 CL E G H	6311	10555	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		11
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ATXN8 CL E G H	724066	32925	ORPHA:98760	Spinocerebellar ataxia type 8			1
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ATXN8OS CL E G H	6315	10561	ORPHA:98760	Spinocerebellar ataxia type 8			1
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome			38
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	B3GALT6 CL E G H	126792	17978	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity			38
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	B9D1 CL E G H	27077	24123	ORPHA:475	Joubert syndrome			28
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	B9D2 CL E G H	80776	28636	ORPHA:475	Joubert syndrome			34
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	BAG3 CL E G H	9531	939	OMIM:612954	Myopathy, myofibrillar, 6			204
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome			22
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma			184
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	BAP1 CL E G H	8314	950	ORPHA:50251	Pleural mesothelioma	HP:0040283 - Occasional		184
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1			114
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	BCHE CL E G H	590	983	ORPHA:132	Butyrylcholinesterase deficiency			67
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	BCHE CL E G H	590	983	OMIM:617936	BUTYRYLCHOLINESTERASE DEFICIENCY; BCHED			67
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	BCL11B CL E G H	64919	13222	OMIM:618092	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES			3
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	BCOR CL E G H	54880	20893	ORPHA:520	Acute promyelocytic leukemia			101
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	BDNF CL E G H	627	1033	ORPHA:661	Ondine syndrome			5
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant			46
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	BICD2 CL E G H	23299	17208	OMIM:618291	Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant			46
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy			99
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	BIN1 CL E G H	274	1052	ORPHA:169186	Autosomal recessive centronuclear myopathy			99
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	BIN1 CL E G H	274	1052	OMIM:255200	Myopathy, centronuclear, 2			99
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome			314
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome			314
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	BLNK CL E G H	29760	14211	ORPHA:33110	Autosomal agammaglobulinemia			4
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	BMP2 CL E G H	650	1069	OMIM:617877	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies			13
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS			78
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	BMPER CL E G H	168667	24154	ORPHA:66637	Diaphanospondylodysostosis			78
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	BMPR2 CL E G H	659	1078	OMIM:178600	Pulmonary hypertension, primary, 1			525
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	BMPR2 CL E G H	659	1078	OMIM:265450	PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT; PVOD1			525
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	BOLA3 CL E G H	388962	24415	OMIM:614299	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia			14
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma			276
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	BRAT1 CL E G H	221927	21701	OMIM:618056	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures			20
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	BRAT1 CL E G H	221927	21701	OMIM:614498	Rigidity and multifocal seizure syndrome, lethal neonatal			20
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	BSCL2 CL E G H	26580	15832	ORPHA:363400	Severe neurodegenerative syndrome with lipodystrophy			105
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	BTD CL E G H	686	1122	ORPHA:79241	Biotinidase deficiency			223
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	BTD CL E G H	686	1122	OMIM:253260	Biotinidase deficiencymultiple carboxylase deficiency, late-onset			223
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked			109
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis			1
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	BTNL2 CL E G H	56244	1142	OMIM:612387	Sarcoidosis, susceptibility to, 2			1
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome			5
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome			76
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	C19ORF12 CL E G H	83636	25443	ORPHA:289560	Mitochondrial membrane protein-associated neurodegeneration			114
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14			27
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	C4A CL E G H	720	1323	ORPHA:117	Behçet disease			1
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	C4B CL E G H	721	1324	OMIM:614379	Complement component 4B deficiency			1
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	C9ORF72 CL E G H	203228	28337	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		56
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis			29
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CA5A CL E G H	763	1377	OMIM:615751	Hyperammonemia due to carbonic anhydrase VA deficiency			10
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CABP4 CL E G H	57010	1386	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy			94
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood			449
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CACNA1C CL E G H	775	1390	OMIM:620029				572
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CACNA1D CL E G H	776	1391	OMIM:615474	Primary aldosteronism, seizures, and neurologic abnormalities			51
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CACNA1D CL E G H	776	1391	ORPHA:369929	Primary hyperaldosteronism-seizures-neurological abnormalities syndrome			51
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CACNA1H CL E G H	8912	1395	ORPHA:64280	Childhood absence epilepsy			75
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CACNA1S CL E G H	779	1397	ORPHA:681	Hypokalemic periodic paralysis			247
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CACNA1S CL E G H	779	1397	ORPHA:423	Malignant hyperthermia of anesthesia			247
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CACNA1S CL E G H	779	1397	OMIM:601887	Malignant hyperthermia, susceptibility to, 5			247
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CACNA1S CL E G H	779	1397	ORPHA:79102	Thyrotoxic periodic paralysis			247
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1			85
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CARD10 CL E G H	29775	16422	OMIM:619632	IMMUNODEFICIENCY 89 AND AUTOIMMUNITY; IMD89			5
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CARD11 CL E G H	84433	16393	OMIM:617638	Immunodeficiency 11B with atopic dermatitis			45
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58			3
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia			118
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CASP8 CL E G H	841	1509	OMIM:607271	CASPASE 8 DEFICIENCY			37
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CASR CL E G H	846	1514	ORPHA:428	Autosomal dominant hypocalcemia			272
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CASR CL E G H	846	1514	OMIM:239200	Hyperparathyroidism, neonatal severe			272
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CAV1 CL E G H	857	1527	ORPHA:220393	Diffuse cutaneous systemic sclerosis			11
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CAV1 CL E G H	857	1527	ORPHA:220402	Limited cutaneous systemic sclerosis			11
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7			11
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CAV1 CL E G H	857	1527	OMIM:615343	Pulmonary hypertension, primary, 3			11
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CBS CL E G H	875	1550	ORPHA:394	Classic homocystinuria			242
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CBY1 CL E G H	25776	1307	ORPHA:475	Joubert syndrome			1
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CC2D2A CL E G H	57545	29253	OMIM:619111	COACH SYNDROME 2; COACH2			247
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CC2D2A CL E G H	57545	29253	OMIM:612285	Joubert syndrome 9			247
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect			247
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CC2D2A CL E G H	57545	29253	ORPHA:2318	Joubert syndrome with oculorenal defect			247
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome			147
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CCDC103 CL E G H	388389	32700	OMIM:614679	Ciliary dyskinesia, primary, 17			36
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CCDC103 CL E G H	388389	32700	ORPHA:244	Primary ciliary dyskinesia			36
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CCDC174 CL E G H	51244	28033	OMIM:616816	Hypotonia, infantile, with psychomotor retardation			1
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1			4
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CCDC39 CL E G H	339829	25244	OMIM:613807	Ciliary dyskinesia, primary, 14			126
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CCDC39 CL E G H	339829	25244	ORPHA:244	Primary ciliary dyskinesia			126
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CCDC40 CL E G H	55036	26090	OMIM:613808	CILIARY DYSKINESIA, PRIMARY, 15; CILD15			182
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CCDC40 CL E G H	55036	26090	ORPHA:244	Primary ciliary dyskinesia			182
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CCDC65 CL E G H	85478	29937	OMIM:615504	Ciliary dyskinesia, primary, 27			23
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CCDC65 CL E G H	85478	29937	ORPHA:244	Primary ciliary dyskinesia			23
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CCL11 CL E G H	6356	10610	OMIM:600807	Asthma, susceptibility to			2
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CCN2 CL E G H	1490	2500	ORPHA:220393	Diffuse cutaneous systemic sclerosis
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CCN2 CL E G H	1490	2500	ORPHA:220402	Limited cutaneous systemic sclerosis
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CCNF CL E G H	899	1591	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CCNO CL E G H	10309	18576	OMIM:615872	Ciliary dyskinesia, primary, 29			23
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CCNO CL E G H	10309	18576	ORPHA:244	Primary ciliary dyskinesia			23
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CCR6 CL E G H	1235	1607	ORPHA:220393	Diffuse cutaneous systemic sclerosis
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CCR6 CL E G H	1235	1607	ORPHA:220402	Limited cutaneous systemic sclerosis
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CD19 CL E G H	930	1633	ORPHA:1572	Common variable immunodeficiency			38
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM			33
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CD55 CL E G H	1604	2665	OMIM:226300	Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy			9
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CD79A CL E G H	973	1698	ORPHA:33110	Autosomal agammaglobulinemia			9
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CD79B CL E G H	974	1699	ORPHA:33110	Autosomal agammaglobulinemia			6
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CD81 CL E G H	975	1701	ORPHA:1572	Common variable immunodeficiency			1
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome			9
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome			31
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder			8
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CDKL5 CL E G H	6792	11411	ORPHA:3095	Atypical Rett syndrome			405
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CDKL5 CL E G H	6792	11411	ORPHA:505652	CDKL5-deficiency disorder	HP:0040283 - Occasional		405
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CDKL5 CL E G H	6792	11411	OMIM:300672	Developmental and epileptic encephalopathy 2			405
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation			114
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly			200
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly			200
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CDON CL E G H	50937	17104	ORPHA:280200	Microform holoprosencephaly			200
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			200
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly			200
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CDSN CL E G H	1041	1802	OMIM:270300	Peeling skin syndrome 1			7
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome			50
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CEACAM3 CL E G H	1084	1815	ORPHA:586	Cystic fibrosis
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CEACAM6 CL E G H	4680	1818	ORPHA:586	Cystic fibrosis			1
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CEP104 CL E G H	9731	24866	ORPHA:475	Joubert syndrome			5
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CEP120 CL E G H	153241	26690	ORPHA:474	Jeune syndrome			7
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CEP120 CL E G H	153241	26690	ORPHA:475	Joubert syndrome			7
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CEP120 CL E G H	153241	26690	ORPHA:220493	Joubert syndrome with ocular defect			7
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CEP120 CL E G H	153241	26690	OMIM:616300	Short-Rib thoracic dysplasia 13 with or without polydactyly			7
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CEP290 CL E G H	80184	29021	OMIM:610188	Joubert syndrome 5			342
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CEP290 CL E G H	80184	29021	ORPHA:2318	Joubert syndrome with oculorenal defect			342
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CEP41 CL E G H	95681	12370	ORPHA:475	Joubert syndrome			90
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CEP41 CL E G H	95681	12370	ORPHA:220493	Joubert syndrome with ocular defect			90
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome			17
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2			17
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CFAP221 CL E G H	200373	33720	ORPHA:244	Primary ciliary dyskinesia
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CFAP298 CL E G H	56683	1301	OMIM:615500	Ciliary dyskinesia, primary, 26
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CFAP298 CL E G H	56683	1301	ORPHA:244	Primary ciliary dyskinesia
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CFAP300 CL E G H	85016	28188	OMIM:618063	Ciliary dyskinesia, primary, 38
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CFAP300 CL E G H	85016	28188	ORPHA:244	Primary ciliary dyskinesia
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CFAP410 CL E G H	755	1260	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CFAP410 CL E G H	755	1260	OMIM:602271	Spondylometaphyseal dysplasia, axial
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CFAP52 CL E G H	146845	16053	OMIM:619607	HETEROTAXY, VISCERAL, 10, AUTOSOMAL, WITH MALE INFERTILITY; HTX10
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CFL2 CL E G H	1073	1875	OMIM:610687	Nemaline myopathy 7			35
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CFL2 CL E G H	1073	1875	ORPHA:171436	Typical nemaline myopathy			35
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CFTR CL E G H	1080	1884	OMIM:219700	Cystic fibrosis			1371
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CFTR CL E G H	1080	1884	ORPHA:586	Cystic fibrosis			1371
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CFTR CL E G H	1080	1884	ORPHA:60033	Idiopathic bronchiectasis			1371
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40			16
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CHAT CL E G H	1103	1912	OMIM:254210	Myasthenic syndrome, congenital, 6, presynaptic			65
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes			65
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CHCHD10 CL E G H	400916	15559	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		11
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CHCHD10 CL E G H	400916	15559	ORPHA:457050	Autosomal dominant mitochondrial myopathy with exercise intolerance			11
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome			515
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CHMP2B CL E G H	25978	24537	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		42
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CHRNA1 CL E G H	1134	1955	OMIM:601462	Myasthenic syndrome, congenital, 1A, slow-channel			74
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CHRNA1 CL E G H	1134	1955	OMIM:608930	Myasthenic syndrome, congenital, 1B, fast-channel			74
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			74
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CHRNA2 CL E G H	1135	1956	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy			188
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CHRNA4 CL E G H	1137	1958	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy			225
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CHRNB1 CL E G H	1140	1961	OMIM:616314	Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency			53
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			53
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CHRNB2 CL E G H	1141	1962	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy			88
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CHRND CL E G H	1144	1965	OMIM:616321	Myasthenic syndrome, congenital, 3A, slow-channel			88
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CHRND CL E G H	1144	1965	OMIM:616322	Myasthenic syndrome, congenital, 3B, fast-channel			88
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CHRND CL E G H	1144	1965	OMIM:616323	Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency			88
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			88
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CHRNE CL E G H	1145	1966	OMIM:605809	Myasthenic syndrome, congenital, 4A, slow-channel			139
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CHRNE CL E G H	1145	1966	OMIM:616324	Myasthenic syndrome, congenital, 4B, fast-channel			139
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CHRNE CL E G H	1145	1966	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency			139
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			139
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome			68
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant			68
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations			165
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CISD2 CL E G H	493856	24212	ORPHA:3463	Wolfram syndrome			3
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CITED2 CL E G H	10370	1987	ORPHA:99103	Atrial septal defect, ostium secundum type			5
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CITED2 CL E G H	10370	1987	ORPHA:99105	Atrial septal defect, sinus venosus type			5
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CIZ1 CL E G H	25792	16744	ORPHA:420492	Adult-onset cervical dystonia, DYT23 type			16
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CLCA4 CL E G H	22802	2018	ORPHA:586	Cystic fibrosis
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CLCF1 CL E G H	23529	17412	ORPHA:1545	Crisponi syndrome			6
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CLCN6 CL E G H	1185	2024	OMIM:619173	NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis			102
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome			27
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CLEC7A CL E G H	64581	14558	ORPHA:1334	Chronic mucocutaneous candidiasis			3
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CLPB CL E G H	81570	30664	ORPHA:445038	3-methylglutaconic aciduria type 7			38
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia			38
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CNOT1 CL E G H	23019	7877	ORPHA:556955	Pancreatic agenesis-holoprosencephaly syndrome			2
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CNTN1 CL E G H	1272	2171	OMIM:612540	Myopathy, congenital, compton-north			40
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CNTNAP1 CL E G H	8506	8011	ORPHA:2680	Hypomyelination neuropathy-arthrogryposis syndrome			9
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CNTNAP1 CL E G H	8506	8011	OMIM:618186	Neuropathy, congenital hypomyelinating, 3			9
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy			518
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CNTNAP2 CL E G H	26047	13830	OMIM:610042	Pitt-Hopkins-Like syndrome 1			518
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	COA6 CL E G H	388753	18025	OMIM:616501	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 4; CEMCOX4			8
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG			52
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe			64
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	COL11A1 CL E G H	1301	2186	ORPHA:440354	Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome			215
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	COL11A1 CL E G H	1301	2186	ORPHA:2021	Fibrochondrogenesis			215
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	COL11A2 CL E G H	1302	2187	ORPHA:2021	Fibrochondrogenesis			222
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy			65
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	COL12A1 CL E G H	1303	2188	ORPHA:75840	Congenital muscular dystrophy, Ullrich type			65
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	COL12A1 CL E G H	1303	2188	OMIM:616470	ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2; UCMD2			65
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	COL13A1 CL E G H	1305	2190	OMIM:616720	Myasthenic syndrome, congenital, 19			6
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			6
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes			6
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	COL1A1 CL E G H	1277	2197	ORPHA:1310	Caffey disease			373
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	COL1A1 CL E G H	1277	2197	OMIM:166210	Osteogenesis imperfecta, type IIA			373
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	COL1A1 CL E G H	1277	2197	OMIM:259420	Osteogenesis imperfecta, type III			373
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome			243
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	COL1A2 CL E G H	1278	2198	OMIM:166210	Osteogenesis imperfecta, type IIA			243
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	COL1A2 CL E G H	1278	2198	OMIM:259420	Osteogenesis imperfecta, type III			243
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	COL25A1 CL E G H	84570	18603	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita			3
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	COL2A1 CL E G H	1280	2200	ORPHA:93296	Achondrogenesis type 2			284
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia			284
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type			284
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	COL2A1 CL E G H	1280	2200	ORPHA:93346	Spondyloepimetaphyseal dysplasia congenita, Strudwick type	HP:0040283 - Occasional		284
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	COL2A1 CL E G H	1280	2200	ORPHA:94068	Spondyloepiphyseal dysplasia congenita	HP:0040283 - Occasional		284
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	COL2A1 CL E G H	1280	2200	OMIM:183900	Spondyloepiphyseal dysplasia congenita			284
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome			749
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	COL4A5 CL E G H	1287	2207	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis			678
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	COL4A6 CL E G H	1288	2208	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis			18
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy			442
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	COL6A1 CL E G H	1291	2211	OMIM:158810	Bethlem myopathy 1			442
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	COL6A1 CL E G H	1291	2211	ORPHA:75840	Congenital muscular dystrophy, Ullrich type			442
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1			442
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy			478
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	COL6A2 CL E G H	1292	2212	OMIM:158810	Bethlem myopathy 1			478
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	COL6A2 CL E G H	1292	2212	ORPHA:75840	Congenital muscular dystrophy, Ullrich type			478
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	COL6A2 CL E G H	1292	2212	OMIM:255600	Myosclerosis, autosomal recessive			478
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1			478
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy			702
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	COL6A3 CL E G H	1293	2213	OMIM:158810	Bethlem myopathy 1			702
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	COL6A3 CL E G H	1293	2213	ORPHA:75840	Congenital muscular dystrophy, Ullrich type			702
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1			702
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	COLQ CL E G H	8292	2226	OMIM:603034	Myasthenic syndrome, congenital, 5			90
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes			90
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome			6
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	COPA CL E G H	1314	2230	OMIM:616414	AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE; AILJK			5
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	COQ2 CL E G H	27235	25223	ORPHA:227510	Multiple system atrophy, cerebellar type			54
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	COQ2 CL E G H	27235	25223	ORPHA:98933	Multiple system atrophy, parkinsonian type			54
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	COQ4 CL E G H	51117	19693	OMIM:616276	Coenzyme Q10 deficiency, primary, 7			24
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	COQ7 CL E G H	10229	2244	OMIM:616733	Coenzyme Q10 deficiency, primary, 8			1
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	COQ9 CL E G H	57017	25302	OMIM:614654	Coenzyme Q10 deficiency, primary, 5			44
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	COX1 CL E G H	4512	7419	ORPHA:550	MELAS
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	COX14 CL E G H	84987	28216	OMIM:619053	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10; MC4DN10			4
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	COX15 CL E G H	1355	2263	ORPHA:255241	Leigh syndrome with leukodystrophy			104
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	COX2 CL E G H	4513	7421	ORPHA:550	MELAS
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	COX3 CL E G H	4514	7422	ORPHA:550	MELAS
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	COX4I2 CL E G H	84701	16232	OMIM:612714	Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarialhyperostosis			13
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	COX5A CL E G H	9377	2267	OMIM:619064	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	COX6A2 CL E G H	1339	2279	OMIM:619062	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 18; MC4DN18
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	COX6B1 CL E G H	1340	2280	OMIM:619051	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN7			10
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	COX7B CL E G H	1349	2291	OMIM:300887	Linear skin defects with multiple congenital anomalies 2			6
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome			6
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	COX8A CL E G H	1351	2294	OMIM:619059	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15; MC4DN15			1
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CPLANE1 CL E G H	65250	25801	ORPHA:475	Joubert syndrome
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CPLANE1 CL E G H	65250	25801	OMIM:614615	Joubert syndrome 17
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CPLANE1 CL E G H	65250	25801	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CPOX CL E G H	1371	2321	OMIM:121300	Coproporphyria			72
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CPOX CL E G H	1371	2321	ORPHA:79273	Hereditary coproporphyria			72
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CPS1 CL E G H	1373	2323	ORPHA:147	Carbamoyl-phosphate synthetase 1 deficiency			124
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CPT2 CL E G H	1376	2330	ORPHA:228308	Carnitine palmitoyl transferase II deficiency, neonatal form			101
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CPT2 CL E G H	1376	2330	OMIM:600649	Carnitine palmitoyltransferase II deficiency, infantile			101
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal			101
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CR2 CL E G H	1380	2336	ORPHA:1572	Common variable immunodeficiency			10
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion			291
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations			291
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CRH CL E G H	1392	2355	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy			1
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CRLF1 CL E G H	9244	2364	ORPHA:1545	Crisponi syndrome			24
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CRLF1 CL E G H	9244	2364	OMIM:272430	Crisponi/cold-induced sweating syndrome 1			24
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CRLF1 CL E G H	9244	2364	ORPHA:930	Idiopathic achalasia			24
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CRPPA CL E G H	729920	37276	ORPHA:352479	ISPD-related limb-girdle muscular dystrophy R20
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CRPPA CL E G H	729920	37276	OMIM:616052	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CRYAB CL E G H	1410	2389	ORPHA:399058	Alpha-B crystallin-related late-onset myopathy			46
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CRYAB CL E G H	1410	2389	OMIM:608810	Myopathy, myofibrillar, 2, mfm2			46
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CRYAB CL E G H	1410	2389	OMIM:613869	Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related			46
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CSF2RA CL E G H	1438	2435	ORPHA:264675	Hereditary pulmonary alveolar proteinosis			15
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CSF2RA CL E G H	1438	2435	OMIM:300770	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4; SMDP4			15
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CSF2RB CL E G H	1439	2436	ORPHA:264675	Hereditary pulmonary alveolar proteinosis			17
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CSF2RB CL E G H	1439	2436	OMIM:614370	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5; SMDP5			17
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CSPP1 CL E G H	79848	26193	ORPHA:475	Joubert syndrome			57
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CSPP1 CL E G H	79848	26193	OMIM:615636	Joubert syndrome 21			57
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy			57
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder			20
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis			10
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma			88
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CTSD CL E G H	1509	2529	OMIM:610127	Ceroid lipofuscinosis, neuronal, 10			159
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis			39
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CUL7 CL E G H	9820	21024	OMIM:273750	3-M syndrome 1			127
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CYB5A CL E G H	1528	2570	ORPHA:621	Hereditary methemoglobinemia			2
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CYB5R3 CL E G H	1727	2873	ORPHA:621	Hereditary methemoglobinemia			24
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CYB5R3 CL E G H	1727	2873	OMIM:250800	Methemoglobinemia due to deficiency of methemoglobin reductase			24
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CYBA CL E G H	1535	2577	ORPHA:379	Chronic granulomatous disease			27
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CYBB CL E G H	1536	2578	ORPHA:379	Chronic granulomatous disease			111
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CYBB CL E G H	1536	2578	OMIM:306400	Chronic granulomatous disease, X-linked			111
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CYBC1 CL E G H	79415	28672	ORPHA:379	Chronic granulomatous disease
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis			114
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	CYTB CL E G H	4519	7427	ORPHA:137675	Histiocytoid cardiomyopathy
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	D2HGDH CL E G H	728294	28358	OMIM:600721	D-2-Hydroxyglutaric aciduria 1			102
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DAG1 CL E G H	1605	2666	OMIM:616538	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9			108
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DAO CL E G H	1610	2671	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DAXX CL E G H	1616	2681	ORPHA:100075	Neuroendocrine tumor of stomach
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DBH CL E G H	1621	2689	ORPHA:230	Dopamine beta-hydroxylase deficiency			80
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DCTN1 CL E G H	1639	2711	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		86
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DCTN1 CL E G H	1639	2711	OMIM:105400	Amyotrophic lateral sclerosis 1			86
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DCTN1 CL E G H	1639	2711	ORPHA:178509	Perry syndrome			86
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DCTN1 CL E G H	1639	2711	OMIM:168605	Perry syndrome			86
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DCTN4 CL E G H	51164	15518	ORPHA:586	Cystic fibrosis
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DCX CL E G H	1641	2714	ORPHA:2148	Lissencephaly type 1 due to doublecortin gene mutation			145
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DDC CL E G H	1644	2719	OMIM:608643	Aromatic L-amino acid decarboxylase deficiency			43
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type			45
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DDRGK1 CL E G H	65992	16110	ORPHA:93352	Spondyloepimetaphyseal dysplasia, Shohat type
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DDX41 CL E G H	51428	18674	OMIM:616871	Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to			23
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DEPDC5 CL E G H	9681	18423	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy			172
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DES CL E G H	1674	2770	ORPHA:98909	Desminopathy			263
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DES CL E G H	1674	2770	OMIM:601419	Myopathy, myofibrillar, 1			263
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DHX16 CL E G H	8449	2739	OMIM:618733	NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DISC1 CL E G H	27185	2888	ORPHA:171703	Microcephaly-polymicrogyria-corpus callosum agenesis syndrome			2
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly			22
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly			22
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DISP1 CL E G H	84976	19711	ORPHA:280200	Microform holoprosencephaly			22
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			22
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly			22
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked			65
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DLEC1 CL E G H	9940	2899	ORPHA:99977	Squamous cell carcinoma of the esophagus
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DLK1 CL E G H	8788	2907	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion			1
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly			3
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly			3
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DLL1 CL E G H	28514	2908	ORPHA:280200	Microform holoprosencephaly			3
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			3
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly			3
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			45
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome			9
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DMD CL E G H	1756	2928	ORPHA:98896	Duchenne muscular dystrophy			1496
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DMD CL E G H	1756	2928	OMIM:310200	Duchenne muscular dystrophy			1496
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DMPK CL E G H	1760	2933	ORPHA:589821	Congenital-onset Steinert myotonic dystrophy			152
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DMPK CL E G H	1760	2933	OMIM:160900	Myotonic dystrophy 1			152
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DNA2 CL E G H	1763	2939	ORPHA:352470	DNA2-related mitochondrial DNA deletion syndrome			41
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DNA2 CL E G H	1763	2939	OMIM:615156	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 6			41
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DNAAF1 CL E G H	123872	30539	OMIM:613193	Ciliary dyskinesia, primary, 13			116
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DNAAF1 CL E G H	123872	30539	ORPHA:244	Primary ciliary dyskinesia			116
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DNAAF11 CL E G H	23639	16725	OMIM:614935	Ciliary dyskinesia, primary, 19
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DNAAF11 CL E G H	23639	16725	ORPHA:244	Primary ciliary dyskinesia
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DNAAF2 CL E G H	55172	20188	OMIM:612518	CILIARY DYSKINESIA, PRIMARY, 10; CILD10			78
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DNAAF2 CL E G H	55172	20188	ORPHA:244	Primary ciliary dyskinesia			78
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DNAAF3 CL E G H	352909	30492	OMIM:606763	Ciliary dyskinesia, primary, 2			63
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DNAAF3 CL E G H	352909	30492	ORPHA:244	Primary ciliary dyskinesia			63
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DNAAF4 CL E G H	161582	21493	OMIM:615482	Ciliary dyskinesia, primary, 25			27
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DNAAF4 CL E G H	161582	21493	ORPHA:244	Primary ciliary dyskinesia			27
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DNAAF5 CL E G H	54919	26013	OMIM:614874	Ciliary dyskinesia, primary, 18			62
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DNAAF5 CL E G H	54919	26013	ORPHA:244	Primary ciliary dyskinesia			62
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DNAAF6 CL E G H	139212	28570	OMIM:300991	Ciliary dyskinesia, primary, 36, X-linked
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DNAAF6 CL E G H	139212	28570	ORPHA:244	Primary ciliary dyskinesia
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DNAH1 CL E G H	25981	2940	OMIM:617577	Ciliary dyskinesia, primary, 37			21
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DNAH1 CL E G H	25981	2940	ORPHA:244	Primary ciliary dyskinesia			21
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DNAH11 CL E G H	8701	2942	OMIM:611884	CILIARY DYSKINESIA, PRIMARY, 7; CILD7			542
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DNAH11 CL E G H	8701	2942	ORPHA:244	Primary ciliary dyskinesia			542
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DNAH5 CL E G H	1767	2950	OMIM:608644	CILIARY DYSKINESIA, PRIMARY, 3; CILD3			527
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DNAH5 CL E G H	1767	2950	ORPHA:244	Primary ciliary dyskinesia			527
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DNAH9 CL E G H	1770	2953	OMIM:618300	Ciliary dyskinesia, primary, 40			18
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DNAH9 CL E G H	1770	2953	ORPHA:244	Primary ciliary dyskinesia			18
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DNAI1 CL E G H	27019	2954	OMIM:244400	Ciliary dyskinesia, primary, 1			73
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DNAI1 CL E G H	27019	2954	ORPHA:244	Primary ciliary dyskinesia			73
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DNAI2 CL E G H	64446	18744	OMIM:612444	CILIARY DYSKINESIA, PRIMARY, 9; CILD9			104
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DNAI2 CL E G H	64446	18744	ORPHA:244	Primary ciliary dyskinesia			104
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DNAJB13 CL E G H	374407	30718	OMIM:617091	CILIARY DYSKINESIA, PRIMARY, 34; CILD34			2
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DNAJB13 CL E G H	374407	30718	ORPHA:244	Primary ciliary dyskinesia			2
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DNAJB6 CL E G H	10049	14888	OMIM:603511	Muscular dystrophy, limb-girdle, type 1E			103
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1			5
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DNAL1 CL E G H	83544	23247	OMIM:614017	CILIARY DYSKINESIA, PRIMARY, 16; CILD16			167
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DNAL1 CL E G H	83544	23247	ORPHA:244	Primary ciliary dyskinesia			167
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DNASE1L3 CL E G H	1776	2959	ORPHA:36412	Hypocomplementemic urticarial vasculitis			3
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1			94
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy			167
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DNM2 CL E G H	1785	2974	OMIM:615368	Lethal congenital contracture syndrome 5			167
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome			18
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DOCK8 CL E G H	81704	19191	ORPHA:217390	Combined immunodeficiency due to DOCK8 deficiency			217
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive			217
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence			91
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DOK7 CL E G H	285489	26594	OMIM:254300	Myasthenia, limb-girdle, familial			91
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			91
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DOLK CL E G H	22845	23406	OMIM:610768	Congenital disorder of glycosylation, type Im			55
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DPAGT1 CL E G H	1798	2995	OMIM:608093	Congenital disorder of glycosylation, type Ij			38
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome			3
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE			27
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DPM2 CL E G H	8818	3006	OMIM:615042	Congenital disorder of glycosylation, type Iu			26
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy			26
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DPP9 CL E G H	91039	18648	ORPHA:2032	Idiopathic pulmonary fibrosis
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency			144
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DRC1 CL E G H	92749	24245	OMIM:615294	CILIARY DYSKINESIA, PRIMARY, 21; CILD21			44
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DRC1 CL E G H	92749	24245	ORPHA:244	Primary ciliary dyskinesia			44
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DSC2 CL E G H	1824	3036	OMIM:610476	Arrhythmogenic right ventricular dysplasia, familial, 11			268
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DSG2 CL E G H	1829	3049	OMIM:612877	CARDIOMYOPATHY, DILATED, 1BB; CMD1BB			358
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DSP CL E G H	1832	3052	ORPHA:2032	Idiopathic pulmonary fibrosis			747
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DSP CL E G H	1832	3052	ORPHA:158687	Lethal acantholytic erosive disorder			747
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DST CL E G H	667	1090	OMIM:614653	Neuropathy, hereditary sensory and autonomic, type VI			108
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DTYMK CL E G H	1841	3061	OMIM:619847
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease			65
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DYNC2H1 CL E G H	79659	2962	ORPHA:474	Jeune syndrome			304
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type			304
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DYNC2I1 CL E G H	55112	21862	ORPHA:474	Jeune syndrome
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DYNC2I2 CL E G H	89891	28296	ORPHA:474	Jeune syndrome
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DYNC2I2 CL E G H	89891	28296	OMIM:615633	Short-Rib thoracic dysplasia 11 with or without polydactyly
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DYNC2LI1 CL E G H	51626	24595	ORPHA:474	Jeune syndrome			7
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DYNC2LI1 CL E G H	51626	24595	OMIM:617088	Short-rib thoracic dysplasia 15 with polydactyly			7
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease			4
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ECHS1 CL E G H	1892	3151	ORPHA:255241	Leigh syndrome with leukodystrophy			33
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ECHS1 CL E G H	1892	3151	OMIM:616277	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency			33
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked			115
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	EDN1 CL E G H	1906	3176	ORPHA:137888	Auriculocondylar syndrome			6
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	EDN3 CL E G H	1908	3178	ORPHA:661	Ondine syndrome			67
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	EDNRA CL E G H	1909	3179	ORPHA:586	Cystic fibrosis			3
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	EFEMP2 CL E G H	30008	3219	ORPHA:90349	Autosomal recessive cutis laxa type 1			45
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type			48
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	EGR2 CL E G H	1959	3239	OMIM:605253	Neuropathy, congenital hypomyelinating, 1, autosomal recessive			58
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	EIF2AK4 CL E G H	440275	19687	ORPHA:199241	Pulmonary capillary hemangiomatosis			40
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	EIF2AK4 CL E G H	440275	19687	OMIM:234810	PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD2			40
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ELN CL E G H	2006	3327	OMIM:123700	Cutis laxa, autosomal dominant 1			172
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ELN CL E G H	2006	3327	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			172
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ELOVL4 CL E G H	6785	14415	OMIM:614457	Ichthyosis, spastic quadriplegia, and mental retardation			62
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ELP1 CL E G H	8518	5959	OMIM:223900	Neuropathy, hereditary sensory and autonomic, type III			133
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy			107
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ENG CL E G H	2022	3349	ORPHA:774	Hereditary hemorrhagic telangiectasia			186
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1			186
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ENPP1 CL E G H	5167	3356	OMIM:208000	Arterial calcification, generalized, of infancy, 1			151
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy			151
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome			4
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	EOMES CL E G H	8320	3372	ORPHA:171703	Microcephaly-polymicrogyria-corpus callosum agenesis syndrome			7
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency			250
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	EPHA4 CL E G H	2043	3388	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		4
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	EPHB4 CL E G H	2050	3395	OMIM:617300	Lymphatic malformation 7			3
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	EPOR CL E G H	2057	3416	ORPHA:90042	Primary familial polycythemia			43
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease			1
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ERBB3 CL E G H	2065	3431	OMIM:607598	Lethal congenital contracture syndrome 2			12
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ERBB4 CL E G H	2066	3432	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		15
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ERBB4 CL E G H	2066	3432	OMIM:615515	Amyotrophic lateral sclerosis 19			15
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy			106
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive			106
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy			54
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ERF CL E G H	2077	3444	OMIM:617180	Chitayat syndrome			12
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ERF CL E G H	2077	3444	ORPHA:207	Crouzon disease			12
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ERGIC1 CL E G H	57222	29205	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ETFA CL E G H	2108	3481	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency			37
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ETFB CL E G H	2109	3482	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency			27
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ETFDH CL E G H	2110	3483	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency			77
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	EXOC2 CL E G H	55770	24968	OMIM:619306	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH			1
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	EXOC6B CL E G H	23233	17085	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity			3
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	EXOSC3 CL E G H	51010	17944	ORPHA:2254	Pontocerebellar hypoplasia type 1			38
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	EXOSC3 CL E G H	51010	17944	OMIM:614678	Pontocerebellar hypoplasia, type 1B			38
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	EXOSC8 CL E G H	11340	17035	ORPHA:2254	Pontocerebellar hypoplasia type 1			4
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	EXOSC8 CL E G H	11340	17035	OMIM:616081	Pontocerebellar hypoplasia, type 1C			4
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	EXOSC9 CL E G H	5393	9137	ORPHA:2254	Pontocerebellar hypoplasia type 1
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	EXOSC9 CL E G H	5393	9137	OMIM:618065	Pontocerebellar hypoplasia, type 1D
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	F12 CL E G H	2161	3530	OMIM:610618	ANGIOEDEMA, HEREDITARY, TYPE III; HAE3			28
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	F13A1 CL E G H	2162	3531	OMIM:188050	Thrombophiliavenous thromboembolism, included			60
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	F2 CL E G H	2147	3535	OMIM:188050	Thrombophiliavenous thromboembolism, included			44
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	F8 CL E G H	2157	3546	OMIM:301071	THROMBOPHILIA, X-LINKED, DUE TO FACTOR VIII DEFECT; THPH13			303
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	FAM13A CL E G H	10144	19367	ORPHA:2032	Idiopathic pulmonary fibrosis
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	FAM149B1 CL E G H	317662	29162	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	FAM20C CL E G H	56975	22140	ORPHA:1832	Lethal osteosclerotic bone dysplasia			35
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	FARS2 CL E G H	10667	21062	ORPHA:466722	Autosomal recessive spastic paraplegia type 77			36
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	FARSA CL E G H	2193	3592	OMIM:619013	RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	FAS CL E G H	355	11920	ORPHA:117	Behçet disease			59
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome			114
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	FBLN5 CL E G H	10516	3602	ORPHA:90349	Autosomal recessive cutis laxa type 1			63
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	FBN1 CL E G H	2200	3603	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			1361
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	FBN1 CL E G H	2200	3603	OMIM:614185	GELEOPHYSIC DYSPLASIA 2; GPHYSD2			1361
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	FBN1 CL E G H	2200	3603	ORPHA:284979	Neonatal Marfan syndrome			1361
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome			1361
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	FBP1 CL E G H	2203	3606	ORPHA:348	Fructose-1,6-bisphosphatase deficiency			64
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	FBP1 CL E G H	2203	3606	OMIM:229700	Fructose-1,6-Bisphosphatase deficiency			64
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	FCGR2A CL E G H	2212	3616	OMIM:219700	Cystic fibrosis			6
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	FCGR3A CL E G H	2214	3619	OMIM:615707	Immunodeficiency 20			4
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	FCSK CL E G H	197258	29500	OMIM:618324	Congenital disorder of glycosylation with defective fucosylation 2
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	FGF13 CL E G H	2258	3670	OMIM:301058	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE90			1
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly			17
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly			17
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	FGF8 CL E G H	2253	3686	ORPHA:280200	Microform holoprosencephaly			17
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			17
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly			17
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	FGFR1 CL E G H	2260	3688	ORPHA:2396	Encephalocraniocutaneous lipomatosis			172
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	FGFR1 CL E G H	2260	3688	ORPHA:2117	Hartsfield syndrome			172
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly			172
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	FGFR1 CL E G H	2260	3688	ORPHA:280200	Microform holoprosencephaly			172
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia			172
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly			172
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	FGFR2 CL E G H	2263	3689	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis			175
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	FGFR2 CL E G H	2263	3689	ORPHA:87	Apert syndrome			175
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome			175
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	FGFR2 CL E G H	2263	3689	ORPHA:207	Crouzon disease			175
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	FGFR2 CL E G H	2263	3689	OMIM:123500	Crouzon syndrome			175
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	FGFR2 CL E G H	2263	3689	ORPHA:1555	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome			175
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	FGFR2 CL E G H	2263	3689	ORPHA:93259	Pfeiffer syndrome type 2			175
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	FGFR2 CL E G H	2263	3689	ORPHA:93260	Pfeiffer syndrome type 3			175
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome			175
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	FGFR3 CL E G H	2261	3690	ORPHA:15	Achondroplasia			145
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA			145
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	FGFR3 CL E G H	2261	3690	OMIM:616482	Achondroplasia, severe, with developmental delay and acanthosis nigricans			145
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	FGFR3 CL E G H	2261	3690	ORPHA:93262	Crouzon syndrome-acanthosis nigricans syndrome			145
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	FGFR3 CL E G H	2261	3690	ORPHA:429	Hypochondroplasia			145
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome			145
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	FGFR3 CL E G H	2261	3690	ORPHA:1860	Thanatophoric dysplasia type 1			145
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	FGFR3 CL E G H	2261	3690	ORPHA:93274	Thanatophoric dysplasia type 2			145
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	FGFR3 CL E G H	2261	3690	OMIM:187600	Thanatophoric dysplasia, type I			145
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	FGFR3 CL E G H	2261	3690	OMIM:187601	Thanatophoric dysplasia, type II			145
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	FHL1 CL E G H	2273	3702	OMIM:300718	Myopathy, reducing body, X-linked, childhood-onset			68
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	FHL1 CL E G H	2273	3702	OMIM:300717	Myopathy, reducing body, X-linked, early-onset, severe			68
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	FHL1 CL E G H	2273	3702	OMIM:300696	Myopathy, X-linked, with postural muscle atrophy			68
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy			68
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	FIG4 CL E G H	9896	16873	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		111
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome			111
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome			111
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	FIP1L1 CL E G H	81608	19124	ORPHA:520	Acute promyelocytic leukemia			4
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	FKBP10 CL E G H	60681	18169	ORPHA:2771	Bruck syndrome			61
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	FKRP CL E G H	79147	17997	ORPHA:370968	Congenital muscular dystrophy with intellectual disability			157
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	FKRP CL E G H	79147	17997	OMIM:613153	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5			157
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	FKRP CL E G H	79147	17997	OMIM:606612	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5			157
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	FKRP CL E G H	79147	17997	OMIM:607155	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5			157
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	FKTN CL E G H	2218	3622	OMIM:253800	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4			184
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	FLAD1 CL E G H	80308	24671	OMIM:255100	Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency			18
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	FLCN CL E G H	201163	27310	OMIM:610883	Potocki-Lupski syndrome			332
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	FLG CL E G H	2312	3748	OMIM:146700	ICHTHYOSIS VULGARIS			63
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	FLNA CL E G H	2316	3754	ORPHA:555877	FLNA-related X-linked myxomatous valvular dysplasia			493
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia			493
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	FLNA CL E G H	2316	3754	ORPHA:2484	Melnick-Needles syndrome			493
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome			493
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II			493
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	FLNB CL E G H	2317	3755	ORPHA:56305	Atelosteogenesis type III			233
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	FLNB CL E G H	2317	3755	ORPHA:503	Larsen syndrome			233
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome			233
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	FLNC CL E G H	2318	3756	ORPHA:75249	Familial isolated restrictive cardiomyopathy			197
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	FLNC CL E G H	2318	3756	OMIM:609524	Filaminopathy, autosomal dominant			197
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	FOXE1 CL E G H	2304	3806	ORPHA:319487	Familial papillary or follicular thyroid carcinoma			9
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	FOXE3 CL E G H	2301	3808	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			23
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins			61
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia			61
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	FOXG1 CL E G H	2290	3811	OMIM:613454	Rett syndrome, congenital variant			177
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly			48
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly			48
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	FOXH1 CL E G H	8928	3814	ORPHA:280200	Microform holoprosencephaly			48
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			48
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly			48
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	FOXI1 CL E G H	2299	3815	ORPHA:705	Pendred syndrome			33
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	FOXJ1 CL E G H	2302	3816	OMIM:618699	CILIARY DYSKINESIA, PRIMARY, 43; CILD43
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	FOXJ1 CL E G H	2302	3816	ORPHA:244	Primary ciliary dyskinesia
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome			184
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome			32
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency			61
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	FOXRED1 CL E G H	55572	26927	ORPHA:255241	Leigh syndrome with leukodystrophy			61
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	FOXRED1 CL E G H	55572	26927	OMIM:618241	Mitochondrial complex I deficiency, nuclear type 19			61
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	FRG1 CL E G H	2483	3954	OMIM:158900	Facioscapulohumeral muscular dystrophy 1			1
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	FUS CL E G H	2521	4010	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		105
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	FUT8 CL E G H	2530	4019	OMIM:618005	Congenital disorder of glycosylation with defective fucosylation 1			3
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	FUZ CL E G H	80199	26219	ORPHA:1136	Arnold-Chiari malformation type II			3
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	FXR1 CL E G H	8087	4023	OMIM:618823	MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS; MYOPMIL
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	FXR1 CL E G H	8087	4023	OMIM:618822	MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES; MYORIBF
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive			37
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GAA CL E G H	2548	4065	ORPHA:308552	Glycogen storage disease due to acid maltase deficiency, infantile onset			407
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GAA CL E G H	2548	4065	OMIM:232300	Glycogen storage disease II			407
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GABBR2 CL E G H	9568	4507	ORPHA:3095	Atypical Rett syndrome			5
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GABBR2 CL E G H	9568	4507	OMIM:617903	Neurodevelopmental disorder with poor language and loss of hand skills			5
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GABRA1 CL E G H	2554	4075	ORPHA:64280	Childhood absence epilepsy			134
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GABRA3 CL E G H	2556	4077	ORPHA:79102	Thyrotoxic periodic paralysis
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GABRB3 CL E G H	2562	4083	ORPHA:64280	Childhood absence epilepsy			57
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GABRG2 CL E G H	2566	4087	ORPHA:64280	Childhood absence epilepsy			139
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GABRG2 CL E G H	2566	4087	ORPHA:1945	Rolandic epilepsy			139
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease			160
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GALK1 CL E G H	2584	4118	ORPHA:79237	Galactokinase deficiency			23
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A			123
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GARS1 CL E G H	2617	4162	OMIM:619042	SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE; SMAJI
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly			2
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly			2
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GAS1 CL E G H	2619	4165	ORPHA:280200	Microform holoprosencephaly			2
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			2
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly			2
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GAS2L2 CL E G H	246176	24846	OMIM:618449	Ciliary dyskinesia, primary, 41			1
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GAS2L2 CL E G H	246176	24846	ORPHA:244	Primary ciliary dyskinesia			1
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GAS8 CL E G H	2622	4166	OMIM:616726	Ciliary dyskinesia, primary, 33			9
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GAS8 CL E G H	2622	4166	ORPHA:244	Primary ciliary dyskinesia			9
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GATA2 CL E G H	2624	4171	ORPHA:3226	Deafness-lymphedema-leukemia syndrome			137
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GATA4 CL E G H	2626	4173	ORPHA:99103	Atrial septal defect, ostium secundum type			87
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GATA6 CL E G H	2627	4174	OMIM:614475	Atrial septal defect 9			37
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GATA6 CL E G H	2627	4174	ORPHA:99103	Atrial septal defect, ostium secundum type			37
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GATA6 CL E G H	2627	4174	ORPHA:2140	Congenital diaphragmatic hernia			37
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome			37
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GBA1 CL E G H	2629	4177	ORPHA:77259	Gaucher disease type 1
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GBA1 CL E G H	2629	4177	ORPHA:77260	Gaucher disease type 2
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GBA1 CL E G H	2629	4177	ORPHA:77261	Gaucher disease type 3
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GBA1 CL E G H	2629	4177	OMIM:230800	Gaucher disease, type I
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GBA1 CL E G H	2629	4177	OMIM:230900	Gaucher disease, type II
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GCLC CL E G H	2729	4311	ORPHA:586	Cystic fibrosis			2
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GDAP1 CL E G H	54332	15968	ORPHA:99948	Charcot-Marie-Tooth disease type 4A			108
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GDF2 CL E G H	2658	4217	ORPHA:774	Hereditary hemorrhagic telangiectasia			8
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GDNF CL E G H	2668	4232	ORPHA:661	Ondine syndrome			59
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GFPT1 CL E G H	2673	4241	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency			128
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GFRA1 CL E G H	2674	4243	OMIM:619887				1
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GGPS1 CL E G H	9453	4249	OMIM:619518	MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GJA1 CL E G H	2697	4274	OMIM:600309	Atrioventricular septal defect 3			68
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease			291
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GLA CL E G H	2717	4296	OMIM:301500	Fabry disease			291
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GLB1 CL E G H	2720	4298	OMIM:253010	Mucopolysaccharidosis type IVB (Morquio)			120
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GLE1 CL E G H	2733	4315	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		45
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GLE1 CL E G H	2733	4315	OMIM:611890	Congenital arthrogryposis with anterior horn cell disease			45
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly			173
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly			173
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GLI2 CL E G H	2736	4318	ORPHA:280200	Microform holoprosencephaly			173
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			173
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly			173
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome			270
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GLRA1 CL E G H	2741	4326	OMIM:149400	Hyperekplexia 1			63
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GLS CL E G H	2744	4331	OMIM:618328	Epileptic encephalopathy, early infantile, 71
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GLT8D1 CL E G H	55830	24870	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GLUL CL E G H	2752	4341	OMIM:610015	GLUTAMINE DEFICIENCY, CONGENITAL			98
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GLYCTK CL E G H	132158	24247	OMIM:220120	D-GLYCERIC ACIDURIA			6
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GM2A CL E G H	2760	4367	OMIM:272750	Gm2-Gangliosidosis, ab variant			69
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome			3
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GMPPA CL E G H	29926	22923	OMIM:615510	Alacrima, achalasia, and mental retardation syndrome			24
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GMPPA CL E G H	29926	22923	ORPHA:869	Triple A syndrome			24
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GMPPB CL E G H	29925	22932	ORPHA:370968	Congenital muscular dystrophy with intellectual disability			34
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GMPPB CL E G H	29925	22932	ORPHA:363623	GMPPB-related limb-girdle muscular dystrophy R19			34
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GMPPB CL E G H	29925	22932	OMIM:615352	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14			34
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GNA11 CL E G H	2767	4379	ORPHA:428	Autosomal dominant hypocalcemia			16
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GNAI3 CL E G H	2773	4387	ORPHA:137888	Auriculocondylar syndrome			2
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GNAI3 CL E G H	2773	4387	OMIM:602483	Auriculocondylar syndrome 1			2
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GNAQ CL E G H	2776	4390	ORPHA:624	Familial multiple nevi flammei			7
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GNAQ CL E G H	2776	4390	ORPHA:3205	Sturge-Weber syndrome			7
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A			101
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GNAS CL E G H	2778	4392	ORPHA:94089	Pseudohypoparathyroidism type 1B			101
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C			101
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42			12
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA			173
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria			173
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II			240
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GP1BA CL E G H	2811	4439	ORPHA:274	Bernard-Soulier syndrome			23
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome			8
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GP1BB CL E G H	2812	4440	ORPHA:274	Bernard-Soulier syndrome			8
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GP9 CL E G H	2815	4444	ORPHA:274	Bernard-Soulier syndrome			21
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GPHN CL E G H	10243	15465	OMIM:149400	Hyperekplexia 1			18
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly			5
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GPR101 CL E G H	83550	14963	OMIM:300942	Chromosome Xq26.3 duplication syndrome			5
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GPX4 CL E G H	2879	4556	ORPHA:93317	Spondylometaphyseal dysplasia, Sedaghatian type			3
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GRHL2 CL E G H	79977	2799	OMIM:616029	Ectodermal dysplasia/short stature syndrome			33
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GRIK2 CL E G H	2898	4580	OMIM:619580	NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS			32
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GRIN1 CL E G H	2902	4584	OMIM:619814	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 101; DEE101			108
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GRIN2A CL E G H	2903	4585	ORPHA:1945	Rolandic epilepsy			434
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GRM7 CL E G H	2917	4599	OMIM:618922	NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA			5
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis			53
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GSTM3 CL E G H	2947	4635	ORPHA:586	Cystic fibrosis			1
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy			2
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy			3
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GTPBP3 CL E G H	84705	14880	ORPHA:444013	Combined oxidative phosphorylation defect type 23			30
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII			54
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GYG1 CL E G H	2992	4699	ORPHA:263297	Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency			18
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	GZF1 CL E G H	64412	15808	OMIM:617662	Joint laxity, short stature, and myopia
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	HABP2 CL E G H	3026	4798	ORPHA:319487	Familial papillary or follicular thyroid carcinoma			58
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	HABP2 CL E G H	3026	4798	OMIM:188050	Thrombophiliavenous thromboembolism, included			58
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	HACD1 CL E G H	9200	9639	OMIM:619967				2
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy			2
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	HADHA CL E G H	3030	4801	ORPHA:746	Mitochondrial trifunctional protein deficiency			99
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	HADHA CL E G H	3030	4801	OMIM:609015	Mitochondrial trifunctional protein deficiency			99
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	HADHB CL E G H	3032	4803	OMIM:609015	Mitochondrial trifunctional protein deficiency			60
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	HADHB CL E G H	3032	4803	ORPHA:746	Mitochondrial trifunctional protein deficiency			60
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	HBB CL E G H	3043	4827	ORPHA:231222	Beta-thalassemia intermedia			580
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major			580
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia			580
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	HBB CL E G H	3043	4827	OMIM:603903	Sickle cell anemia			580
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	HBB CL E G H	3043	4827	ORPHA:232	Sickle cell anemia			580
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome			11
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	HDAC4 CL E G H	9759	14063	OMIM:619797	NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF			33
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	HEPHL1 CL E G H	341208	30477	OMIM:261990	PILI TORTI AND DEVELOPMENTAL DELAY
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			10
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	HES7 CL E G H	84667	15977	OMIM:613686	Spondylocostal dysostosis 4, autosomal recessive			10
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	HEY2 CL E G H	23493	4881	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	HFE CL E G H	3077	4886	ORPHA:586	Cystic fibrosis			38
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	HIBCH CL E G H	26275	4908	ORPHA:88639	Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency			32
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome			3
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease			4
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis			4
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	HLA-B CL E G H	3106	4932	ORPHA:29207	Reactive arthritis			4
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	HLA-B CL E G H	3106	4932	ORPHA:36426	Stevens-Johnson syndrome			4
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	HLA-B CL E G H	3106	4932	ORPHA:3287	Takayasu arteritis			4
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	HLA-DPB1 CL E G H	3115	4940	ORPHA:133	Chronic beryllium disease			1
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis			1
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	HLA-DQA1 CL E G H	3117	4942	ORPHA:930	Idiopathic achalasia
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	HLA-DQB1 CL E G H	3119	4944	ORPHA:930	Idiopathic achalasia
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:747	Autoimmune pulmonary alveolar proteinosis			2
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:220393	Diffuse cutaneous systemic sclerosis			2
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis			2
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:220402	Limited cutaneous systemic sclerosis			2
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis			2
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1			2
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	HLA-G CL E G H	3135	4964	OMIM:600807	Asthma, susceptibility to
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	HLCS CL E G H	3141	4976	OMIM:253270	Holocarboxylase synthetase deficiency			148
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	HLCS CL E G H	3141	4976	ORPHA:79242	Holocarboxylase synthetase deficiency			148
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria			81
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	HMBS CL E G H	3145	4982	OMIM:176000	Porphyria, acute intermittent			81
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation			2
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria			35
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	HMOX1 CL E G H	3162	5013	ORPHA:586	Cystic fibrosis			3
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	HMOX1 CL E G H	3162	5013	OMIM:606963	Pulmonary disease, chronic obstructive			3
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	HNMT CL E G H	3176	5028	OMIM:600807	Asthma, susceptibility to			3
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	HNRNPA1 CL E G H	3178	5031	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		31
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	HNRNPA1 CL E G H	3178	5031	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia			31
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	HNRNPA2B1 CL E G H	3181	5033	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia			5
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion			8
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation			8
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	HOXA1 CL E G H	3198	5099	OMIM:601536	ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME; ABDS			34
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	HPS1 CL E G H	3257	5163	OMIM:203300	Hermansky-Pudlak syndrome 1			121
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	HPS4 CL E G H	89781	15844	OMIM:614073	Hermansky-Pudlak syndrome 4			123
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome			113
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	HSD3B2 CL E G H	3284	5218	ORPHA:90791	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency			34
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	HSPD1 CL E G H	3329	5261	OMIM:612233	Leukodystrophy, hypomyelinating, 4			46
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	HSPG2 CL E G H	3339	5273	ORPHA:1865	Dyssegmental dysplasia, Silverman-Handmaker type			345
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome			345
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	HTRA2 CL E G H	27429	14348	OMIM:617248	3-methylglutaconic aciduria, type VIII			39
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	HYDIN CL E G H	54768	19368	OMIM:608647	Ciliary dyskinesia, primary, 5			21
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	HYDIN CL E G H	54768	19368	ORPHA:244	Primary ciliary dyskinesia			21
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	HYLS1 CL E G H	219844	26558	ORPHA:475	Joubert syndrome			31
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	IBA57 CL E G H	200205	27302	OMIM:615330	Multiple mitochondrial dysfunctions syndrome 3			16
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ICOS CL E G H	29851	5351	ORPHA:1572	Common variable immunodeficiency			32
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria			15
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form			86
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form			86
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II			86
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome			115
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	IDUA CL E G H	3425	5391	OMIM:607016	Scheie syndrome			115
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	IFIH1 CL E G H	64135	18873	OMIM:619773	IMMUNODEFICIENCY 95; IMD95			28
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex			23
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease			60
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	IFNGR1 CL E G H	3459	5439	OMIM:209950	Immunodeficiency 27A, mycobacteriosis, AR			60
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	IFT140 CL E G H	9742	29077	ORPHA:474	Jeune syndrome			148
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	IFT172 CL E G H	26160	30391	OMIM:619471	BARDET-BIEDL SYNDROME 20; BBS20			48
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	IFT172 CL E G H	26160	30391	ORPHA:474	Jeune syndrome			48
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	IFT52 CL E G H	51098	15901	OMIM:617102	Short-Rib thoracic dysplasia 16 with or without polydactyly			4
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	IFT80 CL E G H	57560	29262	ORPHA:474	Jeune syndrome			65
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type			65
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	IFT81 CL E G H	28981	14313	OMIM:617895	Short-Rib thoracic dysplasia 19 with or without polydactyly			2
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation			9
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	IGHG2 CL E G H	3501	5526	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency			1
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	IGHM CL E G H	3507	5541	ORPHA:33110	Autosomal agammaglobulinemia			7
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1			209
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	IGKC CL E G H	3514	5716	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency			5
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	IGLL1 CL E G H	3543	5870	ORPHA:33110	Autosomal agammaglobulinemia			3
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti			52
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	IKZF1 CL E G H	10320	13176	ORPHA:36426	Stevens-Johnson syndrome			8
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease			2
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	IL12B CL E G H	3593	5970	ORPHA:3287	Takayasu arteritis			31
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	IL13 CL E G H	3596	5973	OMIM:600807	Asthma, susceptibility to			2
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	IL17F CL E G H	112744	16404	ORPHA:1334	Chronic mucocutaneous candidiasis			14
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	IL17RA CL E G H	23765	5985	ORPHA:1334	Chronic mucocutaneous candidiasis			196
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	IL17RC CL E G H	84818	18358	ORPHA:1334	Chronic mucocutaneous candidiasis			4
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	IL1RN CL E G H	3557	6000	OMIM:612852	Interleukin 1 receptor antagonist deficiency			40
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease			1
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	IL2RG CL E G H	3561	6010	ORPHA:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency			48
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	IL4R CL E G H	3566	6015	OMIM:147050	Ige responsiveness, atopic			3
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	IL6ST CL E G H	3572	6021	OMIM:619752	HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	IL6ST CL E G H	3572	6021	OMIM:619750	IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	IL6ST CL E G H	3572	6021	OMIM:619751	STUVE-WIEDEMANN SYNDROME 2; STWS2
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	INPP5E CL E G H	56623	21474	ORPHA:475	Joubert syndrome			111
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1			111
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect			111
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	INPP5E CL E G H	56623	21474	ORPHA:220493	Joubert syndrome with ocular defect			111
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	INPP5K CL E G H	51763	33882	OMIM:617404	Muscular dystrophy, congenital, with cataracts and intellectual disability			7
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	INPPL1 CL E G H	3636	6080	ORPHA:2746	Opsismodysplasia			18
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA			18
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	INVS CL E G H	27130	17870	OMIM:602088	Nephronophthisis 2			106
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	IRAK1 CL E G H	3654	6112	ORPHA:93552	Pediatric systemic lupus erythematosus
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	IRF2BP2 CL E G H	359948	21729	ORPHA:520	Acute promyelocytic leukemia			4
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	IRF2BP2 CL E G H	359948	21729	ORPHA:1572	Common variable immunodeficiency			4
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	IRF4 CL E G H	3662	6119	ORPHA:3452	Whipple disease			1
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	IRF5 CL E G H	3663	6120	ORPHA:220393	Diffuse cutaneous systemic sclerosis			4
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	IRF5 CL E G H	3663	6120	ORPHA:220402	Limited cutaneous systemic sclerosis			4
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	IRF6 CL E G H	3664	6121	ORPHA:141291	Cleft lip and alveolus			99
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ISCU CL E G H	23479	29882	OMIM:255125	Myopathy with exercise intolerance, Swedish type			19
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD			3
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency			3
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ITGA3 CL E G H	3675	6139	OMIM:614748	Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital			6
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy			127
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	JAG1 CL E G H	182	6188	OMIM:619574	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH			257
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	JAG2 CL E G H	3714	6189	OMIM:619566	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27			1
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	JAK1 CL E G H	3716	6190	OMIM:618999	AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE			12
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	JAK2 CL E G H	3717	6192	OMIM:133100	Erythrocytosis, familial, 1			57
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	JAK2 CL E G H	3717	6192	ORPHA:71493	Familial thrombocytosis			57
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	JAK2 CL E G H	3717	6192	ORPHA:729	Polycythemia vera			57
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome			2
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	JPH2 CL E G H	57158	14202	OMIM:613873	Cardiomyopathy, familial hypertrophic, 17			111
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	JRK CL E G H	8629	6199	ORPHA:64280	Childhood absence epilepsy
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	JUP CL E G H	3728	6207	ORPHA:158687	Lethal acantholytic erosive disorder			222
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	KAT6A CL E G H	7994	13013	ORPHA:457193	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome			34
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome			141
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	KATNB1 CL E G H	10300	6217	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type			10
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	KATNIP CL E G H	23247	29068	ORPHA:475	Joubert syndrome
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy			80
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	KCNA1 CL E G H	3736	6218	ORPHA:37612	Episodic ataxia type 1			145
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	KCNE3 CL E G H	10008	6243	ORPHA:681	Hypokalemic periodic paralysis			73
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	KCNJ10 CL E G H	3766	6256	ORPHA:705	Pendred syndrome			121
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	KCNJ11 CL E G H	3767	6257	ORPHA:79644	Autosomal recessive hyperinsulinism due to Kir6.2 deficiency			127
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	KCNJ18 CL E G H	100134444	39080	ORPHA:79102	Thyrotoxic periodic paralysis			10
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	KCNJ5 CL E G H	3762	6266	OMIM:613485	Long QT syndrome 13			128
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome			3
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	KCNK3 CL E G H	3777	6278	OMIM:615344	Pulmonary hypertension, primary, 4			7
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	KCNN4 CL E G H	3783	6293	ORPHA:586	Cystic fibrosis			3
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	KCNN4 CL E G H	3783	6293	ORPHA:3202	Dehydrated hereditary stomatocytosis			3
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	KCNQ2 CL E G H	3785	6296	ORPHA:306	Benign familial infantile epilepsy			528
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	KCNQ2 CL E G H	3785	6296	ORPHA:1949	Benign familial neonatal epilepsy			528
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	KCNQ2 CL E G H	3785	6296	ORPHA:439218	KCNQ2-related epileptic encephalopathy			528
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	KCNQ3 CL E G H	3786	6297	ORPHA:306	Benign familial infantile epilepsy			302
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	KCNQ3 CL E G H	3786	6297	ORPHA:1949	Benign familial neonatal epilepsy			302
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	KCNT1 CL E G H	57582	18865	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy			321
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	KIAA0319L CL E G H	79932	30071	ORPHA:220402	Limited cutaneous systemic sclerosis
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	KIAA0586 CL E G H	9786	19960	ORPHA:475	Joubert syndrome			24
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	KIAA0586 CL E G H	9786	19960	OMIM:616490	Joubert syndrome 23			24
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy			24
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	KIAA0753 CL E G H	9851	29110	ORPHA:2754	Orofaciodigital syndrome type 6			4
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	KIAA0753 CL E G H	9851	29110	OMIM:619479	SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21			4
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	KIF20A CL E G H	10112	9787	ORPHA:75249	Familial isolated restrictive cardiomyopathy
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	KIF22 CL E G H	3835	6391	ORPHA:93360	Spondyloepimetaphyseal dysplasia with multiple dislocations			14
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	KIF5A CL E G H	3798	6323	OMIM:617235	Myoclonus, intractable, neonatal			93
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	KIF7 CL E G H	374654	30497	ORPHA:2754	Orofaciodigital syndrome type 6			167
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	KIT CL E G H	3815	6342	ORPHA:280785	Bullous diffuse cutaneous mastocytosis			327
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	KIT CL E G H	3815	6342	ORPHA:79455	Cutaneous mastocytoma			327
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	KLHL40 CL E G H	131377	30372	OMIM:615348	NEMALINE MYOPATHY 8; NEM8			28
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	KLHL40 CL E G H	131377	30372	ORPHA:171430	Severe congenital nemaline myopathy			28
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy			13
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	KLHL41 CL E G H	10324	16905	ORPHA:171433	Intermediate nemaline myopathy			13
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	KLHL41 CL E G H	10324	16905	OMIM:615731	Nemaline myopathy 9			13
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	KLHL41 CL E G H	10324	16905	ORPHA:171430	Severe congenital nemaline myopathy			13
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	KLHL41 CL E G H	10324	16905	ORPHA:171436	Typical nemaline myopathy			13
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	KLHL7 CL E G H	55975	15646	OMIM:617055	Crisponi/cold-Induced sweating syndrome 3			42
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies			1
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	KRAS CL E G H	3845	6407	ORPHA:2396	Encephalocraniocutaneous lipomatosis			196
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	KRT16 CL E G H	3868	6423	ORPHA:2309	Pachyonychia congenita			27
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	KRT17 CL E G H	3872	6427	ORPHA:2309	Pachyonychia congenita			23
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	KRT18 CL E G H	3875	6430	OMIM:215600	Cirrhosis, familial			19
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	KRT6A CL E G H	3853	6443	ORPHA:2309	Pachyonychia congenita			41
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	KRT6B CL E G H	3854	6444	ORPHA:2309	Pachyonychia congenita			4
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	KYNU CL E G H	8942	6469	ORPHA:79155	Hydroxykynureninuria			5
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy			411
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	LAMA2 CL E G H	3908	6482	OMIM:607855	Muscular dystrophy, congenital, merosin deficient or partially deficient			411
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa			116
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes			92
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa			167
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa			135
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	LAMP2 CL E G H	3920	6501	ORPHA:34587	Glycogen storage disease due to LAMP-2 deficiency			211
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	LARGE1 CL E G H	9215	6511	ORPHA:370968	Congenital muscular dystrophy with intellectual disability			136
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	LARP7 CL E G H	51574	24912	ORPHA:319671	Alazami syndrome			16
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	LARS2 CL E G H	23395	17095	OMIM:617021	Hydrops, lactic acidosis, and sideroblastic anemia			54
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	LAT CL E G H	27040	18874	OMIM:617514	Immunodeficiency 52			2
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	LBR CL E G H	3930	6518	ORPHA:779	Reynolds syndrome			70
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	LBX1 CL E G H	10660	16960	OMIM:619483	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 3; CCHS3
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	LDLR CL E G H	3949	6547	ORPHA:391665	Homozygous familial hypercholesterolemia			2157
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	LDLRAP1 CL E G H	26119	18640	ORPHA:391665	Homozygous familial hypercholesterolemia			73
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			13
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	LGI4 CL E G H	163175	18712	ORPHA:2680	Hypomyelination neuropathy-arthrogryposis syndrome			6
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	LIAS CL E G H	11019	16429	OMIM:614462	Hyperglycinemia, lactic acidosis, and seizures			31
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome			144
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome			144
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome			88
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	LIPT1 CL E G H	51601	29569	ORPHA:255241	Leigh syndrome with leukodystrophy			21
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	LIPT1 CL E G H	51601	29569	OMIM:616299	Lipoyltransferase 1 deficiency			21
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	LIPT2 CL E G H	387787	37216	OMIM:617668	Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities			2
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			645
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	LMNA CL E G H	4000	6636	ORPHA:157973	Congenital muscular dystrophy due to LMNA mutation			645
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	LMNA CL E G H	4000	6636	OMIM:181350	Emery-Dreifuss muscular dystrophy 2, autosomal dominant			645
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome			645
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	LMNA CL E G H	4000	6636	OMIM:613205	Muscular dystrophy, congenital, lmna-related			645
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	LMNA CL E G H	4000	6636	OMIM:619793	RESTRICTIVE DERMOPATHY 2; RSDM2			645
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	LMOD3 CL E G H	56203	6649	OMIM:616165	Nemaline myopathy 10			11
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	LMOD3 CL E G H	56203	6649	ORPHA:171430	Severe congenital nemaline myopathy			11
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	LMOD3 CL E G H	56203	6649	ORPHA:171436	Typical nemaline myopathy			11
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome			165
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	LONP1 CL E G H	9361	9479	ORPHA:2140	Congenital diaphragmatic hernia			8
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency			8
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	LOX CL E G H	4015	6664	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			6
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	LPIN2 CL E G H	9663	14450	ORPHA:77297	Majeed syndrome			186
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8			45
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	LRP4 CL E G H	4038	6696	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			124
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	LRP5 CL E G H	4041	6697	ORPHA:2924	Isolated polycystic liver disease			125
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	LRPPRC CL E G H	10128	15714	ORPHA:70472	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type			191
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	LRPPRC CL E G H	10128	15714	OMIM:220111	Leigh syndrome, french Canadian type			191
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	LRRC32 CL E G H	2615	4161	OMIM:619074	CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY; CPPRDD
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	LRRC56 CL E G H	115399	25430	OMIM:618254	CILIARY DYSKINESIA, PRIMARY, 39; CILD39
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	LRRC56 CL E G H	115399	25430	ORPHA:244	Primary ciliary dyskinesia
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	LRRC8A CL E G H	56262	19027	ORPHA:33110	Autosomal agammaglobulinemia			3
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	LTBP1 CL E G H	4052	6714	ORPHA:90349	Autosomal recessive cutis laxa type 1
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	LTBP3 CL E G H	4054	6716	OMIM:617809	Geleophysic dysplasia 3			12
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	LTBP4 CL E G H	8425	6717	ORPHA:98896	Duchenne muscular dystrophy			92
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	LYRM4 CL E G H	57128	21365	OMIM:615595	Combined oxidative phosphorylation deficiency 19			4
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8			10
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH			5
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH			5
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome			63
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			63
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			63
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			63
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome			63
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MAMLD1 CL E G H	10046	2568	ORPHA:456328	X-linked myotubular myopathy-abnormal genitalia syndrome			5
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy			2
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MAP3K20 CL E G H	51776	17797	OMIM:617760	Myopathy, centronuclear, 6, with fiber-type disproportion			2
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2			11
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MAPT CL E G H	4137	6893	ORPHA:240103	Progressive supranuclear palsy-corticobasal syndrome			140
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MAPT CL E G H	4137	6893	ORPHA:240085	Progressive supranuclear palsy-parkinsonism syndrome			140
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MARS1 CL E G H	4141	6898	OMIM:615486	Interstitial lung and liver disease
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MAT2A CL E G H	4144	6904	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			13
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MATR3 CL E G H	9782	6912	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		80
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MATR3 CL E G H	9782	6912	OMIM:606070	Amyotrophic lateral sclerosis 21			80
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MATR3 CL E G H	9782	6912	ORPHA:600	Vocal cord and pharyngeal distal myopathy			80
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MCCC1 CL E G H	56922	6936	OMIM:210200	3-Methylcrotonyl-CoA carboxylase 1 deficiency			81
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MCCC1 CL E G H	56922	6936	ORPHA:6	3-methylcrotonyl-CoA carboxylase deficiency			81
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MCCC2 CL E G H	64087	6937	ORPHA:6	3-methylcrotonyl-CoA carboxylase deficiency			77
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MCIDAS CL E G H	345643	40050	OMIM:618695	CILIARY DYSKINESIA, PRIMARY, 42; CILD42			13
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MCIDAS CL E G H	345643	40050	ORPHA:244	Primary ciliary dyskinesia			13
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MCM3AP CL E G H	8888	6946	OMIM:618124	Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development			3
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MCM4 CL E G H	4173	6947	OMIM:609981	Immunodeficiency 54			69
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MDFIC CL E G H	29969	28870	OMIM:620014
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MECP2 CL E G H	4204	6990	ORPHA:3095	Atypical Rett syndrome			950
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MECP2 CL E G H	4204	6990	OMIM:300673	Encephalopathy, neonatal severe, due to mecp2 mutations			950
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13			950
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MECP2 CL E G H	4204	6990	OMIM:312750	Rett syndrome			950
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MECP2 CL E G H	4204	6990	ORPHA:778	Rett syndrome			950
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1			228
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome			43
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MED27 CL E G H	9442	2377	OMIM:619286	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease			281
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MEG3 CL E G H	55384	14575	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion			1
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MEGF10 CL E G H	84466	29634	OMIM:614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset			158
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			45
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MESP2 CL E G H	145873	29659	OMIM:608681	Spondylocostal dysostosis 2, autosomal recessive			45
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MFAP5 CL E G H	8076	29673	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			11
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MFN2 CL E G H	9927	16877	OMIM:617087	Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B			203
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG			39
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MGME1 CL E G H	92667	16205	OMIM:615084	Mitochondrial DNA depletion syndrome 11			11
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MGME1 CL E G H	92667	16205	ORPHA:352447	Progressive external ophthalmoplegia-myopathy-emaciation syndrome			11
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MGP CL E G H	4256	7060	OMIM:245150	Keutel syndrome			33
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MGP CL E G H	4256	7060	ORPHA:85202	Keutel syndrome			33
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MIA3 CL E G H	375056	24008	OMIM:619269	ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome			57
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I			57
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MIF CL E G H	4282	7097	ORPHA:586	Cystic fibrosis			1
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MINPP1 CL E G H	9562	7102	ORPHA:319487	Familial papillary or follicular thyroid carcinoma			3
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MINPP1 CL E G H	9562	7102	OMIM:619527	PONTOCEREBELLAR HYPOPLASIA, TYPE 16; PCH16			3
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MIR140 CL E G H	406932	31527	OMIM:618618	SPONDYLOEPIPHYSEAL DYSPLASIA, NISHIMURA TYPE; SEDN
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MKS1 CL E G H	54903	7121	ORPHA:475	Joubert syndrome			127
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MKS1 CL E G H	54903	7121	ORPHA:220493	Joubert syndrome with ocular defect			127
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MLX CL E G H	6945	11645	ORPHA:3287	Takayasu arteritis
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MLYCD CL E G H	23417	7150	OMIM:248360	Malonyl-CoA decarboxylase deficiency			80
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MMAA CL E G H	166785	18871	OMIM:251100	Methylmalonic aciduria, Cbla type			113
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MMAB CL E G H	326625	19331	OMIM:251110	Methylmalonic aciduria, Cblb type			127
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC			101
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MMP1 CL E G H	4312	7155	OMIM:606963	Pulmonary disease, chronic obstructive			6
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MMUT CL E G H	4594	7526	OMIM:251000	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MMUT CL E G H	4594	7526	ORPHA:79312	Vitamin B12-unresponsive methylmalonic acidemia type mut-
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MMUT CL E G H	4594	7526	ORPHA:289916	Vitamin B12-unresponsive methylmalonic acidemia type mut0
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MOGS CL E G H	7841	24862	OMIM:606056	Congenital disorder of glycosylation, type IIB			37
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG			37
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z			8
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MPC1 CL E G H	51660	21606	OMIM:614741	Mitochondrial pyruvate carrier deficiency			6
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MPEG1 CL E G H	219972	29619	OMIM:619223	IMMUNODEFICIENCY 77; IMD77
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MPL CL E G H	4352	7217	ORPHA:71493	Familial thrombocytosis			97
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MPL CL E G H	4352	7217	ORPHA:729	Polycythemia vera			97
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy			9
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy			56
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MPZ CL E G H	4359	7225	OMIM:607736	Charcot-Marie-Tooth disease, type 2J			134
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MPZ CL E G H	4359	7225	OMIM:618184	Neuropathy, congenital hypomyelinating, 2			134
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MRPL3 CL E G H	11222	10379	OMIM:614582	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD9			13
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MRPS14 CL E G H	63931	14049	OMIM:618378	Combined oxidative phosphorylation deficiency 38
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MRPS34 CL E G H	65993	16618	OMIM:617664	Combined oxidative phosphorylation deficiency 32			1
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MS4A1 CL E G H	931	7315	ORPHA:1572	Common variable immunodeficiency			1
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MS4A2 CL E G H	2206	7316	OMIM:147050	Ige responsiveness, atopic			1
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MSX1 CL E G H	4487	7391	ORPHA:141291	Cleft lip and alveolus			12
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MTFMT CL E G H	123263	29666	ORPHA:255241	Leigh syndrome with leukodystrophy			29
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MTHFR CL E G H	4524	7436	ORPHA:395	Homocystinuria due to methylene tetrahydrofolate reductase deficiency			183
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MTHFR CL E G H	4524	7436	OMIM:188050	Thrombophiliavenous thromboembolism, included			183
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MTM1 CL E G H	4534	7448	OMIM:310400	Myopathy, centronuclear, X-linked			185
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MTM1 CL E G H	4534	7448	ORPHA:596	X-linked centronuclear myopathy			185
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MTM1 CL E G H	4534	7448	ORPHA:456328	X-linked myotubular myopathy-abnormal genitalia syndrome			185
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy			7
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MTOR CL E G H	2475	3942	ORPHA:457485	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome			68
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia			81
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MUC5B CL E G H	727897	7516	ORPHA:2032	Idiopathic pulmonary fibrosis			133
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MUC5B CL E G H	727897	7516	OMIM:178500	Pulmonary fibrosis, idiopathic			133
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MUC7 CL E G H	4589	7518	OMIM:600807	Asthma, susceptibility to			1
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence			72
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MUSK CL E G H	4593	7525	OMIM:616325	Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency			72
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MUSK CL E G H	4593	7525	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			72
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MYBPC1 CL E G H	4604	7549	OMIM:614915	Lethal congenital contracture syndrome 4			66
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MYBPC3 CL E G H	4607	7551	OMIM:115197	Cardiomyopathy, familial hypertrophic, 4			1143
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MYBPC3 CL E G H	4607	7551	OMIM:615396	Left ventricular noncompaction 10			1143
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MYD88 CL E G H	4615	7562	ORPHA:33226	Waldenström macroglobulinemia			9
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy			19
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MYH11 CL E G H	4629	7569	ORPHA:229	Familial aortic dissection			418
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MYH11 CL E G H	4629	7569	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			418
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MYH11 CL E G H	4629	7569	OMIM:619351	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2; MMIHS2			418
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome			166
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MYH6 CL E G H	4624	7576	ORPHA:99103	Atrial septal defect, ostium secundum type			452
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MYH7 CL E G H	4625	7577	OMIM:613426	Cardiomyopathy, dilated, 1S			1269
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MYH7 CL E G H	4625	7577	ORPHA:324604	Classic multiminicore myopathy			1269
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MYH7 CL E G H	4625	7577	ORPHA:1880	Ebstein malformation of the tricuspid valve			1269
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy			1269
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MYH7 CL E G H	4625	7577	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			1269
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MYH7 CL E G H	4625	7577	OMIM:608358	Myopathy, myosin storage			1269
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive			1269
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MYL1 CL E G H	4632	7582	OMIM:618414	Myopathy, congenital, with fast-twitch (type ii) fiber atrophy
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MYL2 CL E G H	4633	7583	OMIM:608758	Cardiomyopathy, familial hypertrophic, 10			131
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy			131
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MYL2 CL E G H	4633	7583	OMIM:619424	MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12			131
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MYL3 CL E G H	4634	7584	OMIM:608751	Cardiomyopathy, familial hypertrophic, 8			95
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MYLK CL E G H	4638	7590	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			326
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome			5
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MYO1H CL E G H	283446	13879	OMIM:619482	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MYO1H CL E G H	283446	13879	ORPHA:661	Ondine syndrome
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MYO9A CL E G H	4649	7608	OMIM:618198	Myasthenic syndrome, congenital, 24, presynaptic
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MYOD1 CL E G H	4654	7611	OMIM:618975	MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MYOT CL E G H	9499	12399	ORPHA:266	Autosomal dominant limb-girdle muscular dystrophy type 1A	HP:0040283 - Occasional		75
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MYOZ2 CL E G H	51778	1330	OMIM:613838	Cardiomyopathy, familial hypertrophic, 16			81
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MYPN CL E G H	84665	23246	ORPHA:171881	Cap myopathy			217
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy			217
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MYPN CL E G H	84665	23246	ORPHA:75249	Familial isolated restrictive cardiomyopathy			217
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	MYPN CL E G H	84665	23246	OMIM:617336	Nemaline myopathy 11, autosomal recessive			217
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NABP1 CL E G H	64859	26232	ORPHA:520	Acute promyelocytic leukemia
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NACC1 CL E G H	112939	20967	OMIM:617393	Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination			1
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NACC1 CL E G H	112939	20967	ORPHA:500545	Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract			1
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NADK2 CL E G H	133686	26404	ORPHA:431361	Progressive encephalopathy with leukodystrophy due to DECR deficiency			14
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NAGS CL E G H	162417	17996	ORPHA:927	Hyperammonemia due to N-acetylglutamate synthase deficiency			36
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NAGS CL E G H	162417	17996	OMIM:237310	N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY			36
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NALCN CL E G H	259232	19082	OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay			48
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome			48
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NAXE CL E G H	128240	18453	OMIM:617186	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1			9
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome			706
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NCF1 CL E G H	653361	7660	ORPHA:379	Chronic granulomatous disease			13
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NCF2 CL E G H	4688	7661	ORPHA:379	Chronic granulomatous disease			67
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NCF4 CL E G H	4689	7662	ORPHA:379	Chronic granulomatous disease			37
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ND1 CL E G H	4535	7455	ORPHA:550	MELAS
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ND4 CL E G H	4538	7459	ORPHA:550	MELAS
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ND5 CL E G H	4540	7461	ORPHA:550	MELAS
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ND6 CL E G H	4541	7462	ORPHA:550	MELAS
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NDE1 CL E G H	54820	17619	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type			96
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency			7
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NDUFA10 CL E G H	4705	7684	ORPHA:255241	Leigh syndrome with leukodystrophy			91
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NDUFA10 CL E G H	4705	7684	OMIM:618243	Mitochondrial complex I deficiency, nuclear type 22			91
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency			32
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NDUFA11 CL E G H	126328	20371	OMIM:618236	Mitochondrial complex I deficiency, nuclear type 14			32
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NDUFA12 CL E G H	55967	23987	ORPHA:255241	Leigh syndrome with leukodystrophy			7
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NDUFA13 CL E G H	51079	17194	ORPHA:255241	Leigh syndrome with leukodystrophy			3
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NDUFA2 CL E G H	4695	7685	ORPHA:255241	Leigh syndrome with leukodystrophy			19
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NDUFA2 CL E G H	4695	7685	OMIM:618235	Mitochondrial complex I deficiency, nuclear type 13			19
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NDUFA4 CL E G H	4697	7687	ORPHA:255241	Leigh syndrome with leukodystrophy			4
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NDUFA6 CL E G H	4700	7690	ORPHA:2609	Isolated complex I deficiency			1
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33			1
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NDUFA8 CL E G H	4702	7692	OMIM:619272	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NDUFA9 CL E G H	4704	7693	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NDUFA9 CL E G H	4704	7693	OMIM:618247	Mitochondrial complex I deficiency, nuclear type 26			27
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NDUFAF1 CL E G H	51103	18828	ORPHA:2609	Isolated complex I deficiency			40
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NDUFAF2 CL E G H	91942	28086	ORPHA:2609	Isolated complex I deficiency			26
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NDUFAF2 CL E G H	91942	28086	ORPHA:255241	Leigh syndrome with leukodystrophy			26
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NDUFAF2 CL E G H	91942	28086	OMIM:618233	Mitochondrial complex I deficiency, nuclear type 10			26
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NDUFAF3 CL E G H	25915	29918	ORPHA:2609	Isolated complex I deficiency			31
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy			31
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NDUFAF3 CL E G H	25915	29918	OMIM:618240	Mitochondrial complex I deficiency, nuclear type 18			31
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NDUFAF4 CL E G H	29078	21034	ORPHA:2609	Isolated complex I deficiency			50
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NDUFAF5 CL E G H	79133	15899	ORPHA:2609	Isolated complex I deficiency			34
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NDUFAF5 CL E G H	79133	15899	ORPHA:255241	Leigh syndrome with leukodystrophy			34
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NDUFAF6 CL E G H	137682	28625	OMIM:618913	FANCONI RENOTUBULAR SYNDROME 5; FRTS5			39
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NDUFAF6 CL E G H	137682	28625	ORPHA:255241	Leigh syndrome with leukodystrophy			39
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NDUFAF8 CL E G H	284184	33551	ORPHA:2609	Isolated complex I deficiency
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NDUFAF8 CL E G H	284184	33551	OMIM:618776	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34; MC1DN34
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NDUFB10 CL E G H	4716	7696	ORPHA:2609	Isolated complex I deficiency
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NDUFB10 CL E G H	4716	7696	OMIM:619003	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NDUFB11 CL E G H	54539	20372	ORPHA:2609	Isolated complex I deficiency			3
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome			3
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NDUFB11 CL E G H	54539	20372	OMIM:301021	Mitochondrial complex I deficiency, nuclear type 30			3
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NDUFB3 CL E G H	4709	7698	ORPHA:2609	Isolated complex I deficiency			9
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NDUFB8 CL E G H	4714	7703	OMIM:618252	Mitochondrial complex I deficiency, nuclear type 32
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NDUFB9 CL E G H	4715	7704	ORPHA:2609	Isolated complex I deficiency			16
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NDUFS1 CL E G H	4719	7707	ORPHA:2609	Isolated complex I deficiency			81
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NDUFS1 CL E G H	4719	7707	ORPHA:255241	Leigh syndrome with leukodystrophy			81
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NDUFS1 CL E G H	4719	7707	OMIM:618226	Mitochondrial complex I deficiency, nuclear type 5			81
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NDUFS2 CL E G H	4720	7708	ORPHA:2609	Isolated complex I deficiency			65
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy			65
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NDUFS2 CL E G H	4720	7708	ORPHA:255241	Leigh syndrome with leukodystrophy			65
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NDUFS2 CL E G H	4720	7708	OMIM:618228	Mitochondrial complex I deficiency, nuclear type 6			65
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NDUFS3 CL E G H	4722	7710	ORPHA:2609	Isolated complex I deficiency			22
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NDUFS3 CL E G H	4722	7710	ORPHA:255241	Leigh syndrome with leukodystrophy			22
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NDUFS3 CL E G H	4722	7710	OMIM:618230	Mitochondrial complex I deficiency, nuclear type 8			22
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NDUFS4 CL E G H	4724	7711	ORPHA:2609	Isolated complex I deficiency			27
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NDUFS4 CL E G H	4724	7711	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1			27
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NDUFS6 CL E G H	4726	7713	ORPHA:2609	Isolated complex I deficiency			21
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NDUFS6 CL E G H	4726	7713	OMIM:618232	Mitochondrial complex I deficiency, nuclear type 9			21
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NDUFS7 CL E G H	374291	7714	ORPHA:2609	Isolated complex I deficiency			38
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NDUFS7 CL E G H	374291	7714	ORPHA:255241	Leigh syndrome with leukodystrophy			38
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NDUFS7 CL E G H	374291	7714	OMIM:618224	Mitochondrial complex I deficiency, nuclear type 3			38
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NDUFS8 CL E G H	4728	7715	ORPHA:2609	Isolated complex I deficiency			42
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NDUFS8 CL E G H	4728	7715	ORPHA:255241	Leigh syndrome with leukodystrophy			42
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NDUFS8 CL E G H	4728	7715	OMIM:618222	Mitochondrial complex I deficiency, nuclear type 2			42
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NDUFV1 CL E G H	4723	7716	ORPHA:2609	Isolated complex I deficiency			74
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NDUFV1 CL E G H	4723	7716	ORPHA:255241	Leigh syndrome with leukodystrophy			74
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NDUFV1 CL E G H	4723	7716	OMIM:618225	Mitochondrial complex I deficiency, nuclear type 4			74
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NDUFV2 CL E G H	4729	7717	ORPHA:2609	Isolated complex I deficiency			27
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NDUFV2 CL E G H	4729	7717	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NEB CL E G H	4703	7720	OMIM:619334	ARTHROGRYPOSIS MULTIPLEX CONGENITA 6; AMC6			745
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy			745
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NEB CL E G H	4703	7720	ORPHA:399103	Distal nebulin myopathy			745
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NEB CL E G H	4703	7720	ORPHA:171433	Intermediate nemaline myopathy			745
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive			745
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NEB CL E G H	4703	7720	ORPHA:171430	Severe congenital nemaline myopathy			745
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NEB CL E G H	4703	7720	ORPHA:171436	Typical nemaline myopathy			745
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NECTIN1 CL E G H	5818	9706	ORPHA:141291	Cleft lip and alveolus			4
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NEFH CL E G H	4744	7737	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		24
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NEFH CL E G H	4744	7737	OMIM:105400	Amyotrophic lateral sclerosis 1			24
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NEK1 CL E G H	4750	7744	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		101
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NEK1 CL E G H	4750	7744	OMIM:617892	Amyotrophic lateral sclerosis, susceptibility to, 24			101
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2			101
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NEK10 CL E G H	152110	18592	OMIM:618781	CILIARY DYSKINESIA, PRIMARY, 44; CILD44
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NEK10 CL E G H	152110	18592	ORPHA:244	Primary ciliary dyskinesia
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NEK9 CL E G H	91754	18591	OMIM:614262	Arthrogryposis, perthes disease, and upward gaze palsy			9
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NEMF CL E G H	9147	10663	OMIM:619099	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND AXONAL PERIPHERAL NEUROPATHY; IDDSAPN			1
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome			1952
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma			220
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NFASC CL E G H	23114	29866	OMIM:618356	Neurodevelopmental disorder with central and peripheral motor dysfunction
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome			40
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NFKB1 CL E G H	4790	7794	ORPHA:1572	Common variable immunodeficiency			7
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NFKB1 CL E G H	4790	7794	OMIM:616576	IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12			7
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NFKB2 CL E G H	4791	7795	ORPHA:1572	Common variable immunodeficiency			11
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NFKB2 CL E G H	4791	7795	OMIM:615577	Immunodeficiency, common variable, 10			11
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NFS1 CL E G H	9054	15910	OMIM:619386	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD52			5
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NFU1 CL E G H	27247	16287	OMIM:605711	Multiple mitochondrial dysfunctions syndrome 1			34
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome			32
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation			32
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NHLRC2 CL E G H	374354	24731	OMIM:618278	Fibrosis, neurodegeneration, and cerebral angiomatosis
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome			51
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NKX2-1 CL E G H	7080	11825	OMIM:610978	Choreoathetosis, hypothyroidism, and neonatal respiratory distress			51
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NKX2-5 CL E G H	1482	2488	ORPHA:99103	Atrial septal defect, ostium secundum type			90
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NKX2-5 CL E G H	1482	2488	ORPHA:871	Familial progressive cardiac conduction defect			90
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NKX2-6 CL E G H	137814	32940	ORPHA:3384	Truncus arteriosus			3
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NLRP3 CL E G H	114548	16400	ORPHA:575	Muckle-Wells syndrome			217
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NME8 CL E G H	51314	16473	OMIM:610852	Ciliary dyskinesia, primary, 6			50
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NME8 CL E G H	51314	16473	ORPHA:244	Primary ciliary dyskinesia			50
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome			187
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NOD2 CL E G H	64127	5331	OMIM:617321	YAO SYNDROME; YAOS			187
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly			45
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly			45
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NODAL CL E G H	4838	7865	ORPHA:280200	Microform holoprosencephaly			45
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			45
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly			45
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome			10
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NOS1 CL E G H	4842	7872	ORPHA:930	Idiopathic achalasia			2
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome			452
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5			452
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NPC2 CL E G H	10577	14537	OMIM:607625	Niemann-pick disease, type C2			33
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NPHP1 CL E G H	4867	7905	ORPHA:220497	Joubert syndrome with renal defect			85
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NPHS1 CL E G H	4868	7908	OMIM:256300	Nephrotic syndrome, type 1			241
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NPM1 CL E G H	4869	7910	ORPHA:520	Acute promyelocytic leukemia			12
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NPPA CL E G H	4878	7939	ORPHA:1344	Atrial standstill			13
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NPPA CL E G H	4878	7939	OMIM:615745	Atrial standstill 2			13
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NR1H4 CL E G H	9971	7967	ORPHA:69665	Intrahepatic cholestasis of pregnancy			14
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NRXN1 CL E G H	9378	8008	OMIM:614325	Pitt-Hopkins-Like syndrome 2			470
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NSF CL E G H	4905	8016	OMIM:619340	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 96; DEE96
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome			84
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NTNG1 CL E G H	22854	23319	ORPHA:3095	Atypical Rett syndrome			1
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NUBPL CL E G H	80224	20278	ORPHA:2609	Isolated complex I deficiency			89
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NUMA1 CL E G H	4926	8059	ORPHA:520	Acute promyelocytic leukemia
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF			4
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NUP214 CL E G H	8021	8064	OMIM:618426	Encephalopathy, acute, infection-induced, susceptibility to, 9			1
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	NUTM2B-AS1 CL E G H	101060691	51204	OMIM:618637	OCULOPHARYNGEAL MYOPATHY WITH LEUKOENCEPHALOPATHY 1; OPML1
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	OAS1 CL E G H	4938	8086	OMIM:618042	Pulmonary alveolar proteinosis with hypogammaglobulinemia			2
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			121
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			121
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			121
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe			88
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ODAD1 CL E G H	93233	26560	OMIM:615067	Ciliary dyskinesia, primary, 20
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ODAD1 CL E G H	93233	26560	ORPHA:244	Primary ciliary dyskinesia
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ODAD2 CL E G H	55130	25583	OMIM:615451	CILIARY DYSKINESIA, PRIMARY, 23; CILD23
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ODAD2 CL E G H	55130	25583	ORPHA:244	Primary ciliary dyskinesia
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ODAD3 CL E G H	115948	28303	OMIM:616037	Ciliary dyskinesia, primary, 30
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ODAD3 CL E G H	115948	28303	ORPHA:244	Primary ciliary dyskinesia
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ODAD4 CL E G H	83538	25280	OMIM:617092	Ciliary dyskinesia, primary, 35
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ODAD4 CL E G H	83538	25280	ORPHA:244	Primary ciliary dyskinesia
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome			1
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	OFD1 CL E G H	8481	2567	ORPHA:2754	Orofaciodigital syndrome type 6			201
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	OFD1 CL E G H	8481	2567	ORPHA:244	Primary ciliary dyskinesia			201
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	OPA1 CL E G H	4976	8140	OMIM:616896	MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE); MTDPS14			214
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	OPTN CL E G H	10133	17142	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		62
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	OPTN CL E G H	10133	17142	OMIM:613435	Amyotrophic lateral sclerosis 12			62
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ORAI1 CL E G H	84876	25896	OMIM:612782	Immunodeficiency 9			19
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome			53
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1			53
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome			21
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome			39
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3			39
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5			73
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	OTX2 CL E G H	5015	8522	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome			41
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	OXCT1 CL E G H	5019	8527	OMIM:245050	Succinyl CoA:3-oxoacid CoA transferase deficiency			52
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis			3
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PAM16 CL E G H	51025	29679	OMIM:613320	Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type			1
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PANK2 CL E G H	80025	15894	ORPHA:216866	Classic pantothenate kinase-associated neurodegeneration			55
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PARN CL E G H	5073	8609	ORPHA:2032	Idiopathic pulmonary fibrosis			26
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PARN CL E G H	5073	8609	OMIM:616371	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4; PFBMFT4			26
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PAX2 CL E G H	5076	8616	ORPHA:97362	Renal hypoplasia, bilateral			39
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PAX7 CL E G H	5081	8621	OMIM:618578	MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PAX8 CL E G H	7849	8622	OMIM:218700	Hypothyroidism, congenital, nongoitrous, 2			63
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PBX1 CL E G H	5087	8632	OMIM:617641	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay			3
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PBX1 CL E G H	5087	8632	ORPHA:97362	Renal hypoplasia, bilateral			3
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PCCA CL E G H	5095	8653	OMIM:606054	Propionic acidemia			96
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PCCB CL E G H	5096	8654	OMIM:606054	Propionic acidemia			92
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PCK1 CL E G H	5105	8724	OMIM:261680	Phosphoenolpyruvate carboxykinase deficiency, cytosolic			53
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PCSK9 CL E G H	255738	20001	ORPHA:391665	Homozygous familial hypercholesterolemia			178
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PDE6D CL E G H	5147	8788	ORPHA:2754	Orofaciodigital syndrome type 6			1
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma			9
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PDHA1 CL E G H	5160	8806	ORPHA:255241	Leigh syndrome with leukodystrophy			88
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency			88
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PDHA1 CL E G H	5160	8806	OMIM:312170	Pyruvate dehydrogenase e1-alpha deficiency			88
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PDSS1 CL E G H	23590	17759	OMIM:614651	Coenzyme Q10 deficiency, primary, 2			40
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PEPD CL E G H	5184	8840	OMIM:170100	Prolidase deficiency			66
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PET100 CL E G H	100131801	40038	ORPHA:255241	Leigh syndrome with leukodystrophy			6
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)			169
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome			169
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome			75
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome			4
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome			65
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PEX13 CL E G H	5194	8855	OMIM:614883	Peroxisome biogenesis disorder 11A (Zellweger)			66
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome			66
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome			46
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome			59
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome			62
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome			82
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome			106
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome			47
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)			99
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PEX5 CL E G H	5830	9719	OMIM:616716	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP5			99
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome			99
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PEX6 CL E G H	5190	8859	OMIM:614862	Peroxisome biogenesis disorder 4A (Zellweger)			98
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome			98
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PEX7 CL E G H	5191	8860	ORPHA:773	Refsum disease			72
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PEX7 CL E G H	5191	8860	OMIM:215100	Rhizomelic chondrodysplasia punctata, type 1			72
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PFN1 CL E G H	5216	8881	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		6
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It			58
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23			15
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG			15
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PHOX2B CL E G H	8929	9143	OMIM:209880	Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease			86
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PHOX2B CL E G H	8929	9143	ORPHA:99803	Haddad syndrome			86
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PHOX2B CL E G H	8929	9143	ORPHA:661	Ondine syndrome			86
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PHYH CL E G H	5264	8940	ORPHA:773	Refsum disease			45
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria			11
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PIBF1 CL E G H	10464	23352	ORPHA:475	Joubert syndrome			4
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PIBF1 CL E G H	10464	23352	OMIM:617767	Joubert syndrome 33			4
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PIEZO1 CL E G H	9780	28993	ORPHA:3202	Dehydrated hereditary stomatocytosis			36
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PIEZO2 CL E G H	63895	26270	OMIM:108145	Arthrogryposis, distal, type 5			77
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PIEZO2 CL E G H	63895	26270	OMIM:617146	Arthrogryposis, distal, with impaired proprioception and touch			77
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2			46
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria			46
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome			37
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome			12
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PIGT CL E G H	51604	14938	OMIM:615399	Paroxysmal nocturnal hemoglobinuria 2			12
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6			2
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma			162
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies			9
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PIK3R1 CL E G H	5295	8979	ORPHA:33110	Autosomal agammaglobulinemia			43
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PIP5K1C CL E G H	23396	8996	OMIM:611369	Lethal congenital contracture syndrome 3			1
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease			563
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PKP2 CL E G H	5318	9024	OMIM:609040	Arrhythmogenic right ventricular dysplasia, familial, 9			406
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy			133
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PLA2G7 CL E G H	7941	9040	OMIM:600807	Asthma, susceptibility to			5
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PLA2G7 CL E G H	7941	9040	OMIM:147050	Ige responsiveness, atopic			5
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies			3
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder			3
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation			3
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PLCB3 CL E G H	5331	9056	OMIM:618961	SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY; SMDCD
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PLCB4 CL E G H	5332	9059	ORPHA:137888	Auriculocondylar syndrome			82
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PLCB4 CL E G H	5332	9059	OMIM:614669	Auriculocondylar syndrome 2			82
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PLCG2 CL E G H	5336	9066	OMIM:614468	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3; FCAS3			21
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PLEC CL E G H	5339	9069	OMIM:226670	Epidermolysis bullosa simplex with muscular dystrophy			759
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PLEC CL E G H	5339	9069	ORPHA:254361	Plectin-related limb-girdle muscular dystrophy R17			759
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PLEKHG5 CL E G H	57449	29105	OMIM:611067	Spinal muscular atrophy, distal, autosomal recessive, 4			186
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1			105
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency			105
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PLOD2 CL E G H	5352	9082	ORPHA:2771	Bruck syndrome			45
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease			60
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PLP1 CL E G H	5354	9086	ORPHA:280210	Pelizaeus-Merzbacher disease, connatal form			60
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PLP1 CL E G H	5354	9086	ORPHA:99015	Spastic paraplegia type 2			60
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PLPBP CL E G H	11212	9457	OMIM:617290	Epilepsy, early-onset, vitamin b6-dependent			6
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PLPBP CL E G H	11212	9457	ORPHA:3006	Pyridoxine-dependent epilepsy			6
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PLXND1 CL E G H	23129	9107	ORPHA:3384	Truncus arteriosus
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PML CL E G H	5371	9113	ORPHA:520	Acute promyelocytic leukemia			3
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG			150
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PMP22 CL E G H	5376	9118	ORPHA:90658	Charcot-Marie-Tooth disease type 1E			79
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PMP22 CL E G H	5376	9118	ORPHA:640	Hereditary neuropathy with liability to pressure palsies			79
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PNKD CL E G H	25953	9153	ORPHA:98810	Paroxysmal non-kinesigenic dyskinesia			66
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PNPLA2 CL E G H	57104	30802	ORPHA:565612	Triglyceride deposit cardiomyovasculopathy			65
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	POGLUT1 CL E G H	56983	22954	OMIM:617232	Muscular dystrophy, limb-girdle, type 2Z			6
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome			35
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome			35
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			464
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive			464
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			464
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			45
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	POLR1B CL E G H	84172	20454	OMIM:618939	TREACHER COLLINS SYNDROME 4; TCS4
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome			38
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome			31
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	POMK CL E G H	84197	26267	OMIM:615249	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12			18
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	POMT1 CL E G H	10585	9202	ORPHA:370968	Congenital muscular dystrophy with intellectual disability			213
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	POMT1 CL E G H	10585	9202	ORPHA:86812	POMT1-related limb-girdle muscular dystrophy R11			213
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	POMT2 CL E G H	29954	19743	ORPHA:370968	Congenital muscular dystrophy with intellectual disability			221
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	POMT2 CL E G H	29954	19743	OMIM:613156	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2			221
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PON1 CL E G H	5444	9204	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		4
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PON2 CL E G H	5445	9205	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		2
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PON3 CL E G H	5446	9206	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		1
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	POR CL E G H	5447	9208	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis			76
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PPARGC1A CL E G H	10891	9237	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		1
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PPCS CL E G H	79717	25686	OMIM:618189	Cardiomyopathy, dilated, 2C
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PPOX CL E G H	5498	9280	ORPHA:79473	Porphyria variegata			41
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PRDM13 CL E G H	59336	13998	OMIM:619909				2
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PRKAR1A CL E G H	5573	9388	ORPHA:520	Acute promyelocytic leukemia			134
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PRKAR1A CL E G H	5573	9388	ORPHA:615	Familial atrial myxoma			134
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PRKAR1B CL E G H	5575	9390	OMIM:619680	MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS			2
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PRKCD CL E G H	5580	9399	ORPHA:1572	Common variable immunodeficiency			10
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PRKCSH CL E G H	5589	9411	ORPHA:2924	Isolated polycystic liver disease			63
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PRKCSH CL E G H	5589	9411	OMIM:174050	Polycystic liver disease 1 with or without kidney cysts			63
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PRKG1 CL E G H	5592	9414	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			41
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PRMT7 CL E G H	54496	25557	ORPHA:464288	Short stature-brachydactyly-obesity-global developmental delay syndrome			6
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PRNP CL E G H	5621	9449	OMIM:600072	Fatal familial insomnia			69
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PROC CL E G H	5624	9451	ORPHA:745	Severe hereditary thrombophilia due to congenital protein C deficiency			65
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PROC CL E G H	5624	9451	OMIM:612304	Thrombophilia due to protein C deficiency, autosomal recessive			65
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PROC CL E G H	5624	9451	OMIM:176860	Thrombophilia, hereditary, due to protein C deficiency, autosomaldominant			65
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PROS1 CL E G H	5627	9456	ORPHA:743	Severe hereditary thrombophilia due to congenital protein S deficiency			75
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PROS1 CL E G H	5627	9456	OMIM:614514	Thrombophilia due to protein S deficiency, autosomal recessive			75
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PROS1 CL E G H	5627	9456	OMIM:612336	Thrombophilia, hereditary, due to protein S deficiency, autosomal			75
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PRPH CL E G H	5630	9461	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		25
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PRPH CL E G H	5630	9461	OMIM:105400	Amyotrophic lateral sclerosis 1			25
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PRPS1 CL E G H	5631	9462	ORPHA:1187	Lethal ataxia with deafness and optic atrophy			49
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome			49
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PRRT2 CL E G H	112476	30500	ORPHA:306	Benign familial infantile epilepsy			94
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PRRT2 CL E G H	112476	30500	ORPHA:98810	Paroxysmal non-kinesigenic dyskinesia			94
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PRRX1 CL E G H	5396	9142	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome			4
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PRRX1 CL E G H	5396	9142	OMIM:202650	Agnathia-Otocephaly complex			4
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PRUNE1 CL E G H	58497	13420	ORPHA:544469	PRUNE1-related neurological syndrome			8
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PSAP CL E G H	5660	9498	ORPHA:139406	Encephalopathy due to prosaposin deficiency			81
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease			81
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PSAP CL E G H	5660	9498	OMIM:611722	KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY			81
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PSAT1 CL E G H	29968	19129	OMIM:610992	Phosphoserine aminotransferase deficiency			27
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PTCD3 CL E G H	55037	24717	OMIM:619057	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51; COXPD51
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly			665
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly			665
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PTCH1 CL E G H	5727	9585	ORPHA:280200	Microform holoprosencephaly			665
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			665
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly			665
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome			948
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PTF1A CL E G H	256297	23734	OMIM:609069	Pancreatic and cerebellar agenesis			22
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PTGER2 CL E G H	5732	9594	OMIM:208550	Asthma, nasal polyps, and aspirin intolerance			1
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis			3
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis			3
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease			6
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome			19
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PURA CL E G H	5813	9701	OMIM:616158	Mental retardation, autosomal dominant 31			53
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PURA CL E G H	5813	9701	ORPHA:438216	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation			53
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PURA CL E G H	5813	9701	ORPHA:314655	Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion			53
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PYGM CL E G H	5837	9726	ORPHA:368	Glycogen storage disease due to muscle glycogen phosphorylase deficiency			166
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8			5
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B			9
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	RAI1 CL E G H	10743	9834	ORPHA:1713	17p11.2 microduplication syndrome			150
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	RALGAPA1 CL E G H	253959	17770	OMIM:618797	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT			1
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	RANBP2 CL E G H	5903	9848	ORPHA:88619	Familial acute necrotizing encephalopathy			57
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence			73
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	RAPSN CL E G H	5913	9863	OMIM:618388	FETAL AKINESIA DEFORMATION SEQUENCE 2; FADS2			73
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	RAPSN CL E G H	5913	9863	OMIM:616326	Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency			73
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	RAPSN CL E G H	5913	9863	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			73
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	RARA CL E G H	5914	9864	ORPHA:520	Acute promyelocytic leukemia			2
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	RARS2 CL E G H	57038	21406	OMIM:611523	Pontocerebellar hypoplasia, type 6			93
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome			16
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome			3
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	REEP1 CL E G H	65055	25786	OMIM:620011				87
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	RELN CL E G H	5649	9957	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type			334
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	REN CL E G H	5972	9958	OMIM:267430	Renal tubular dysgenesis			25
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart			16
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	RET CL E G H	5979	9967	ORPHA:99803	Haddad syndrome			572
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	RFC1 CL E G H	5981	9969	OMIM:614575	Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	RFT1 CL E G H	91869	30220	OMIM:612015	Congenital disorder of glycosylation, type IN			92
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	RHAG CL E G H	6005	10006	ORPHA:71275	Rh deficiency syndrome			13
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	RHCE CL E G H	6006	10008	ORPHA:71275	Rh deficiency syndrome			8
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	RHD CL E G H	6007	10009	ORPHA:71275	Rh deficiency syndrome			16
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	RIC1 CL E G H	57589	17686	OMIM:618761	CATIFA SYNDROME; CATIFA
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	RIPK1 CL E G H	8737	10019	OMIM:618108	IMMUNODEFICIENCY 57; IMD57
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			3
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia			37
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	RNASEH1 CL E G H	246243	18466	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy			3
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	RNASEH1 CL E G H	246243	18466	OMIM:616479	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2			3
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	RNASEH2A CL E G H	10535	18518	OMIM:610333	Aicardi-Goutieres syndrome 4			33
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy			3
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	RNF125 CL E G H	54941	21150	OMIM:616260	Tenorio syndrome			5
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	RNF13 CL E G H	11342	10057	ORPHA:544503	RNF13-related severe early-onset epileptic encephalopathy
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome			7
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	RNF6 CL E G H	6049	10069	ORPHA:99977	Squamous cell carcinoma of the esophagus			3
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	RNU4ATAC CL E G H	100151683	34016	OMIM:226960	EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS			15
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III			15
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I			15
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	RPA1 CL E G H	6117	10289	OMIM:619767	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 6; PFBMFT6
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	RPGR CL E G H	6103	10295	ORPHA:244	Primary ciliary dyskinesia			200
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	RPGRIP1L CL E G H	23322	29168	OMIM:611560	Joubert syndrome 7			167
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect			167
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	RPGRIP1L CL E G H	23322	29168	ORPHA:220497	Joubert syndrome with renal defect			167
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	RPL3L CL E G H	6123	10351	OMIM:619371	CARDIOMYOPATHY, DILATED, 2D; CMD2D
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	RPS26 CL E G H	6231	10414	OMIM:613309	Diamond-blackfan anemia 10			20
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis			1
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome			65
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	RRM2B CL E G H	50484	17296	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy			125
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			125
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	RRM2B CL E G H	50484	17296	OMIM:612075	Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)			125
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	RSPH1 CL E G H	89765	12371	OMIM:615481	Ciliary dyskinesia, primary, 24			31
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	RSPH1 CL E G H	89765	12371	ORPHA:244	Primary ciliary dyskinesia			31
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	RSPH3 CL E G H	83861	21054	OMIM:616481	Ciliary dyskinesia, primary, 32			5
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	RSPH3 CL E G H	83861	21054	ORPHA:244	Primary ciliary dyskinesia			5
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	RSPH4A CL E G H	345895	21558	OMIM:612649	Ciliary dyskinesia, primary, 11			58
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	RSPH4A CL E G H	345895	21558	ORPHA:244	Primary ciliary dyskinesia			58
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	RSPH9 CL E G H	221421	21057	OMIM:612650	CILIARY DYSKINESIA, PRIMARY, 12; CILD12			20
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	RSPH9 CL E G H	221421	21057	ORPHA:244	Primary ciliary dyskinesia			20
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	RTEL1 CL E G H	51750	15888	ORPHA:2032	Idiopathic pulmonary fibrosis			77
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	RTEL1 CL E G H	51750	15888	OMIM:616373	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3; PFBMFT3			77
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	RTL1 CL E G H	388015	14665	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia			90
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	RUNX2 CL E G H	860	10472	ORPHA:1452	Cleidocranial dysplasia			90
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy			1200
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	RYR1 CL E G H	6261	10483	ORPHA:169186	Autosomal recessive centronuclear myopathy			1200
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	RYR1 CL E G H	6261	10483	ORPHA:324581	Benign Samaritan congenital myopathy	HP:0040283 - Occasional		1200
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	RYR1 CL E G H	6261	10483	ORPHA:597	Central core disease			1200
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia	HP:0040282 - Frequent		1200
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	RYR1 CL E G H	6261	10483	ORPHA:424107	Congenital myopathy with myasthenic-like onset			1200
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	RYR1 CL E G H	6261	10483	ORPHA:466650	Exercise-induced malignant hyperthermia			1200
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	RYR1 CL E G H	6261	10483	ORPHA:423	Malignant hyperthermia of anesthesia			1200
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	RYR1 CL E G H	6261	10483	OMIM:255320	Minicore myopathy with external ophthalmoplegia			1200
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	RYR1 CL E G H	6261	10483	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			1200
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SARS2 CL E G H	54938	17697	OMIM:613845	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome			60
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome			34
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement			34
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1			26
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SBF2 CL E G H	81846	2135	ORPHA:99956	Charcot-Marie-Tooth disease type 4B2			180
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SCARB2 CL E G H	950	1665	ORPHA:77259	Gaucher disease type 1			77
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome			11
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SCGB3A2 CL E G H	117156	18391	OMIM:600807	Asthma, susceptibility to			1
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SCN1B CL E G H	6324	10586	ORPHA:871	Familial progressive cardiac conduction defect			126
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SCN2A CL E G H	6326	10588	ORPHA:306	Benign familial infantile epilepsy			427
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SCN2A CL E G H	6326	10588	OMIM:607745	Seizures, benign familial infantile, 3			427
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SCN4A CL E G H	6329	10591	ORPHA:682	Hyperkalemic periodic paralysis			263
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SCN4A CL E G H	6329	10591	ORPHA:681	Hypokalemic periodic paralysis			263
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SCN4A CL E G H	6329	10591	OMIM:614198	Myasthenic syndrome, congenital, 16			263
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SCN4A CL E G H	6329	10591	ORPHA:99734	Myotonia fluctuans			263
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SCN4A CL E G H	6329	10591	ORPHA:99735	Myotonia permanens			263
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SCN4A CL E G H	6329	10591	OMIM:608390	Myotonia, potassium-aggravated			263
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SCN4A CL E G H	6329	10591	OMIM:168300	Paramyotonia congenita of von eulenburg			263
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SCN4A CL E G H	6329	10591	ORPHA:684	Paramyotonia congenita of Von Eulenburg			263
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SCN4A CL E G H	6329	10591	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			263
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SCN5A CL E G H	6331	10593	ORPHA:1344	Atrial standstill			1134
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SCN5A CL E G H	6331	10593	ORPHA:871	Familial progressive cardiac conduction defect			1134
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SCN5A CL E G H	6331	10593	OMIM:113900	Progressive familial heart block, type IA			1134
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SCN5A CL E G H	6331	10593	OMIM:272120	Sudden infant death syndrome			1134
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SCN8A CL E G H	6334	10596	ORPHA:306	Benign familial infantile epilepsy			357
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SCN9A CL E G H	6335	10597	OMIM:167400	Paroxysmal extreme pain disorder			318
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SCNN1A CL E G H	6337	10599	ORPHA:171876	Generalized pseudohypoaldosteronism type 1			67
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SCNN1A CL E G H	6337	10599	ORPHA:60033	Idiopathic bronchiectasis			67
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SCNN1B CL E G H	6338	10600	ORPHA:171876	Generalized pseudohypoaldosteronism type 1			61
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SCNN1B CL E G H	6338	10600	ORPHA:60033	Idiopathic bronchiectasis			61
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SCNN1G CL E G H	6340	10602	ORPHA:171876	Generalized pseudohypoaldosteronism type 1			57
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SCNN1G CL E G H	6340	10602	ORPHA:60033	Idiopathic bronchiectasis			57
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SCO1 CL E G H	6341	10603	OMIM:619048	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN4			46
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1			40
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy			40
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SCYL2 CL E G H	55681	19286	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SDCCAG8 CL E G H	10806	10671	OMIM:615993	Bardet-Biedl syndrome 16			61
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SDHA CL E G H	6389	10680	OMIM:613642	Cardiomyopathy, dilated, 1gg			304
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SDHA CL E G H	6389	10680	ORPHA:255241	Leigh syndrome with leukodystrophy			304
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SDHD CL E G H	6392	10683	ORPHA:100093	Carcinoid syndrome			129
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SEC31A CL E G H	22872	17052	OMIM:618651	HALPERIN-BIRK SYNDROME; HLBKS
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SEC63 CL E G H	11231	21082	ORPHA:2924	Isolated polycystic liver disease			137
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SELENON CL E G H	57190	15999	ORPHA:324604	Classic multiminicore myopathy			144
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy			144
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SELENON CL E G H	57190	15999	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			144
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SELENON CL E G H	57190	15999	OMIM:602771	Rigid spine muscular dystrophy 1			144
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SELENON CL E G H	57190	15999	ORPHA:97244	Rigid spine syndrome			144
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome			16
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SEPSECS CL E G H	51091	30605	ORPHA:2524	Pontocerebellar hypoplasia type 2			66
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SEPTIN9 CL E G H	10801	7323	ORPHA:2901	Neuralgic amyotrophy
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SERPINA1 CL E G H	5265	8941	OMIM:613490	Alpha-1-Antitrypsin deficiency			131
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SERPINA1 CL E G H	5265	8941	ORPHA:586	Cystic fibrosis			131
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SERPINC1 CL E G H	462	775	OMIM:613118	Antithrombin III deficiency			88
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SERPINC1 CL E G H	462	775	ORPHA:82	Hereditary thrombophilia due to congenital antithrombin deficiency			88
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SERPING1 CL E G H	710	1228	ORPHA:100050	Hereditary angioedema type 1			64
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SERPINH1 CL E G H	871	1546	OMIM:613848	Osteogenesis imperfecta, type X			52
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome			143
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SF3B4 CL E G H	10262	10771	ORPHA:245	Nager syndrome			49
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SFTPA1 CL E G H	653509	10798	ORPHA:2032	Idiopathic pulmonary fibrosis			19
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SFTPA1 CL E G H	653509	10798	OMIM:619611	INTERSTITIAL LUNG DISEASE 1; ILD1			19
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SFTPA2 CL E G H	729238	10799	ORPHA:2032	Idiopathic pulmonary fibrosis			10
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SFTPA2 CL E G H	729238	10799	OMIM:178500	Pulmonary fibrosis, idiopathic			10
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SFTPB CL E G H	6439	10801	ORPHA:70587	Infant acute respiratory distress syndrome			51
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SFTPB CL E G H	6439	10801	ORPHA:217563	Neonatal acute respiratory distress due to SP-B deficiency			51
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SFTPB CL E G H	6439	10801	OMIM:265120	Surfactant metabolism dysfunction, pulmonary, 1			51
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SFTPC CL E G H	6440	10802	ORPHA:2032	Idiopathic pulmonary fibrosis			33
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SFTPC CL E G H	6440	10802	ORPHA:70587	Infant acute respiratory distress syndrome			33
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SFTPC CL E G H	6440	10802	OMIM:178500	Pulmonary fibrosis, idiopathic			33
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SFTPC CL E G H	6440	10802	OMIM:610913	Surfactant metabolism dysfunction, pulmonary, 2			33
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SGCG CL E G H	6445	10809	OMIM:253700	Muscular dystrophy, limb-girdle, type 2C			83
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SH2B3 CL E G H	10019	29605	OMIM:133100	Erythrocytosis, familial, 1			4
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SH3BP2 CL E G H	6452	10825	ORPHA:184	Cherubism			177
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C			493
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly			67
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly			67
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SHH CL E G H	6469	10848	ORPHA:280200	Microform holoprosencephaly			67
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			67
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly			67
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SHPK CL E G H	23729	1492	ORPHA:440713	Isolated sedoheptulokinase deficiency			2
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SIK1 CL E G H	150094	11142	OMIM:616341	Deafness, autosomal dominant 67			11
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SIK3 CL E G H	23387	29165	OMIM:618162	Spondyloepimetaphyseal dysplasia, Krakow type
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome			40
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly			32
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly			32
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SIX3 CL E G H	6496	10889	ORPHA:280200	Microform holoprosencephaly			32
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			32
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly			32
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome			150
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome			150
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SLC11A1 CL E G H	6556	10907	ORPHA:586	Cystic fibrosis			2
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SLC11A1 CL E G H	6556	10907	ORPHA:3389	Tuberculosis			2
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome			145
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy			163
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SLC18A2 CL E G H	6571	10935	ORPHA:352649	Brain dopamine-serotonin vesicular transport disease			2
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence			2
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SLC18A3 CL E G H	6572	10936	OMIM:617239	Myasthenic syndrome, congenital, 21, presynaptic			2
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SLC19A3 CL E G H	80704	16266	ORPHA:263410	Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome			110
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SLC19A3 CL E G H	80704	16266	ORPHA:255241	Leigh syndrome with leukodystrophy			110
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood			63
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SLC22A5 CL E G H	6584	10969	OMIM:212140	Carnitine deficiency, systemic primary			207
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SLC25A1 CL E G H	6576	10979	OMIM:615182	Combined d-2- and l-2-hydroxyglutaric aciduria			28
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes			28
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39			44
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SLC25A15 CL E G H	10166	10985	ORPHA:415	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome			88
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SLC25A20 CL E G H	788	1421	ORPHA:159	Carnitine-acylcarnitine translocase deficiency			40
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SLC25A20 CL E G H	788	1421	OMIM:212138	Carnitine-acylcarnitine translocase deficiency			40
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SLC25A21 CL E G H	89874	14411	OMIM:618811	MITOCHONDRIAL DNA DEPLETION SYNDROME 18; MTDPS18
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SLC25A26 CL E G H	115286	20661	OMIM:616794	Combined oxidative phosphorylation deficiency 28			5
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SLC25A3 CL E G H	5250	10989	ORPHA:91130	Cardiomyopathy-hypotonia-lactic acidosis syndrome			35
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SLC25A3 CL E G H	5250	10989	OMIM:610773	MITOCHONDRIAL PHOSPHATE CARRIER DEFICIENCY			35
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			68
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SLC25A4 CL E G H	291	10990	OMIM:615418	Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)			68
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SLC25A4 CL E G H	291	10990	OMIM:617184	Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant			68
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SLC25A46 CL E G H	91137	25198	OMIM:616505	Neuropathy, hereditary motor and sensory, type VIB			14
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SLC25A46 CL E G H	91137	25198	ORPHA:2254	Pontocerebellar hypoplasia type 1			14
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SLC25A46 CL E G H	91137	25198	OMIM:619303	PONTOCEREBELLAR HYPOPLASIA, TYPE 1E; PCH1E			14
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SLC26A2 CL E G H	1836	10994	OMIM:600972	Achondrogenesis, type IB			166
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SLC26A2 CL E G H	1836	10994	OMIM:256050	Atelosteogenesis, type II			166
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SLC26A2 CL E G H	1836	10994	ORPHA:628	Diastrophic dysplasia			166
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SLC26A4 CL E G H	5172	8818	ORPHA:705	Pendred syndrome			274
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SLC26A9 CL E G H	115019	14469	ORPHA:586	Cystic fibrosis			5
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SLC27A4 CL E G H	10999	10998	OMIM:608649	ICHTHYOSIS PREMATURITY SYNDROME; IPS			26
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SLC27A4 CL E G H	10999	10998	ORPHA:88621	Ichthyosis-prematurity syndrome			26
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome			68
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SLC2A1 CL E G H	6513	11005	ORPHA:64280	Childhood absence epilepsy			255
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SLC2A1 CL E G H	6513	11005	ORPHA:71277	Classic glucose transporter type 1 deficiency syndrome			255
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome			178
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SLC30A9 CL E G H	10463	1329	OMIM:617595	Birk-Landau-Perez syndrome			1
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SLC34A2 CL E G H	10568	11020	OMIM:265100	Pulmonary alveolar microlithiasis			7
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SLC34A2 CL E G H	10568	11020	ORPHA:60025	Pulmonary alveolar microlithiasis			7
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SLC35A1 CL E G H	10559	11021	ORPHA:238459	SLC35A1-CDG			24
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib			110
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic			110
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG			11
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SLC41A1 CL E G H	254428	19429	OMIM:619468	NEPHRONOPHTHISIS-LIKE NEPHROPATHY 2; NPHPL2
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SLC4A1 CL E G H	6521	11027	ORPHA:3202	Dehydrated hereditary stomatocytosis			109
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SLC52A2 CL E G H	79581	30224	OMIM:614707	Brown-Vialetto-Van laere syndrome 2			47
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SLC52A3 CL E G H	113278	16187	OMIM:211530	Brown-Vialetto-Van laere syndrome 1			51
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SLC52A3 CL E G H	113278	16187	OMIM:211500	Bulbar palsy, progressive, of childhood			51
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SLC5A7 CL E G H	60482	14025	OMIM:617143	Myasthenic syndrome, congenital, 20, presynaptic			9
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes			9
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SLC6A14 CL E G H	11254	11047	ORPHA:586	Cystic fibrosis
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SLC6A5 CL E G H	9152	11051	OMIM:614618	Hyperekplexia 3			81
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SLC6A9 CL E G H	6536	11056	OMIM:617301	Glycine encephalopathy with normal serum glycine			4
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance			104
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SLC7A7 CL E G H	9056	11065	OMIM:222700	Lysinuric protein intolerance			104
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SLC9A3 CL E G H	6550	11073	ORPHA:586	Cystic fibrosis			7
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SMAD2 CL E G H	4087	6768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			7
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SMAD3 CL E G H	4088	6769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			260
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SMAD4 CL E G H	4089	6770	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			504
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SMAD4 CL E G H	4089	6770	ORPHA:774	Hereditary hemorrhagic telangiectasia			504
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome			504
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SMAD9 CL E G H	4093	6774	OMIM:615342	Pulmonary hypertension, primary, 2			132
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SMARCA2 CL E G H	6595	11098	ORPHA:2728	Blepharophimosis-intellectual disability syndrome, Ohdo type			146
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type			74
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia			74
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma			87
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma			47
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SMC1A CL E G H	8243	11111	ORPHA:3095	Atypical Rett syndrome			135
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly			135
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SMN1 CL E G H	6606	11117	OMIM:253300	Spinal muscular atrophy, type I			22
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma			22
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B			164
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SMPD1 CL E G H	6609	11120	OMIM:607616	Niemann-pick disease, type B			164
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA			1
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SNAP25 CL E G H	6616	11132	OMIM:616330	Myasthenic syndrome, congenital, 18			2
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SNRPB CL E G H	6628	11153	ORPHA:1393	Cerebrocostomandibular syndrome			6
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome			6
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			37
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			37
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			37
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation			37
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SNX10 CL E G H	29887	14974	ORPHA:667	Autosomal recessive malignant osteopetrosis			2
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SOD1 CL E G H	6647	11179	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		53
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SOD1 CL E G H	6647	11179	OMIM:105400	Amyotrophic lateral sclerosis 1			53
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome			12
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SOX9 CL E G H	6662	11204	ORPHA:140	Campomelic dysplasia			109
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia			109
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SOX9 CL E G H	6662	11204	ORPHA:718	Isolated Pierre Robin syndrome			109
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome			49
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SPAG1 CL E G H	6674	11212	OMIM:615505	Ciliary dyskinesia, primary, 28			45
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SPAG1 CL E G H	6674	11212	ORPHA:244	Primary ciliary dyskinesia			45
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SPEF2 CL E G H	79925	26293	ORPHA:244	Primary ciliary dyskinesia			15
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SPEG CL E G H	10290	16901	ORPHA:169186	Autosomal recessive centronuclear myopathy			20
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SPEG CL E G H	10290	16901	OMIM:615959	Myopathy, centronuclear, 5			20
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SPG11 CL E G H	80208	11226	OMIM:602099	Amyotrophic lateral sclerosis 5, juvenile			287
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SPINK5 CL E G H	11005	15464	OMIM:256500	Netherton syndrome			100
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SPINK5 CL E G H	11005	15464	ORPHA:634	Netherton syndrome			100
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1			16
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2			16
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SPP1 CL E G H	6696	11255	ORPHA:93552	Pediatric systemic lupus erythematosus
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SPTLC1 CL E G H	10558	11277	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1			54
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SPTLC2 CL E G H	9517	11278	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1			149
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SQSTM1 CL E G H	8878	11280	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		62
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary			1
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria			50
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SRPX2 CL E G H	27286	30668	ORPHA:1945	Rolandic epilepsy			50
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SSR4 CL E G H	6748	11326	OMIM:300934	Congenital disorder of glycosylation, type Iy			12
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	STAC3 CL E G H	246329	28423	OMIM:255995	Myopathy, congenital, bailey-bloch			14
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	STAC3 CL E G H	246329	28423	ORPHA:168572	Native American myopathy			14
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly			1
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly			1
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome			89
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	STAT1 CL E G H	6772	11362	OMIM:614162	Immunodeficiency 31C			89
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	STAT2 CL E G H	6773	11363	OMIM:618886	PSEUDO-TORCH SYNDROME 3; PTORCH3			9
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	STAT3 CL E G H	6774	11364	ORPHA:520	Acute promyelocytic leukemia			110
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	STAT3 CL E G H	6774	11364	ORPHA:2314	Autosomal dominant hyper-IgE syndrome			110
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease			2
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	STAT4 CL E G H	6775	11365	ORPHA:93552	Pediatric systemic lupus erythematosus			2
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	STAT5B CL E G H	6777	11367	ORPHA:520	Acute promyelocytic leukemia			12
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	STAT5B CL E G H	6777	11367	OMIM:245590	GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY			12
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly			99
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly			99
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			99
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly			99
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	STIM1 CL E G H	6786	11386	OMIM:160565	Myopathy, tubular aggregate, 1			31
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	STING1 CL E G H	340061	27962	OMIM:615934	STING-associated vasculopathy, infantile-onset
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	STK36 CL E G H	27148	17209	OMIM:619436	CILIARY DYSKINESIA, PRIMARY, 46; CILD46			3
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	STK36 CL E G H	27148	17209	ORPHA:244	Primary ciliary dyskinesia			3
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	STN1 CL E G H	79991	26200	ORPHA:2032	Idiopathic pulmonary fibrosis			2
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9			71
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	STT3B CL E G H	201595	30611	OMIM:615597	Congenital disorder of glycosylation, type Ix			18
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	STT3B CL E G H	201595	30611	ORPHA:370924	STT3B-CDG			18
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	STX16 CL E G H	8675	11431	ORPHA:94089	Pseudohypoparathyroidism type 1B			86
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	STX1A CL E G H	6804	11433	ORPHA:586	Cystic fibrosis
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome			237
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SUCLA2 CL E G H	8803	11448	OMIM:612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)			66
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria			60
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SUCLG1 CL E G H	8802	11449	OMIM:245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)			60
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SUFU CL E G H	51684	16466	ORPHA:475	Joubert syndrome			124
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma			124
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SUFU CL E G H	51684	16466	ORPHA:280200	Microform holoprosencephaly			124
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy			73
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SURF1 CL E G H	6834	11474	ORPHA:255241	Leigh syndrome with leukodystrophy			73
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency			73
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SYNE1 CL E G H	23345	17089	OMIM:618484	Arthrogryposis multiplex congenita, Myogenic type			1129
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			1129
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			508
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SYNE2 CL E G H	23224	17084	OMIM:612999	Emery-Dreifuss muscular dystrophy 5, autosomal dominant			508
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SYT1 CL E G H	6857	11509	OMIM:618218	Baker-Gordon syndrome			1
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome			1
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SYT2 CL E G H	127833	11510	OMIM:619461	MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B			4
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes			4
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TACO1 CL E G H	51204	24316	ORPHA:255241	Leigh syndrome with leukodystrophy			23
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TAF15 CL E G H	8148	11547	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TALDO1 CL E G H	6888	11559	OMIM:606003	Transaldolase deficiency			34
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TALDO1 CL E G H	6888	11559	ORPHA:101028	Transaldolase deficiency	HP:0040283 - Occasional		34
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TARDBP CL E G H	23435	11571	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		65
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TARDBP CL E G H	23435	11571	OMIM:612069	Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia			65
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome			271
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome			16
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT			16
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TBCK CL E G H	93627	28261	OMIM:616900	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3			13
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome			13
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TBK1 CL E G H	29110	11584	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		20
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TBK1 CL E G H	29110	11584	ORPHA:1930	Herpes simplex virus encephalitis			20
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TBL1XR1 CL E G H	79718	29529	ORPHA:520	Acute promyelocytic leukemia			22
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TBR1 CL E G H	10716	11590	ORPHA:1617	2q24 microdeletion syndrome			1
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome			32
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome			32
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TBX20 CL E G H	57057	11598	ORPHA:99103	Atrial septal defect, ostium secundum type			20
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TBX21 CL E G H	30009	11599	OMIM:208550	Asthma, nasal polyps, and aspirin intolerance			1
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TBX21 CL E G H	30009	11599	OMIM:619630	IMMUNODEFICIENCY 88; IMD88			1
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome			55
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TCF3 CL E G H	6929	11633	ORPHA:33110	Autosomal agammaglobulinemia			2
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome			241
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome			241
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TCIRG1 CL E G H	10312	11647	ORPHA:667	Autosomal recessive malignant osteopetrosis			82
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome			140
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TCTN1 CL E G H	79600	26113	ORPHA:475	Joubert syndrome			45
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TCTN2 CL E G H	79867	25774	ORPHA:475	Joubert syndrome			76
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TCTN3 CL E G H	26123	24519	ORPHA:2754	Orofaciodigital syndrome type 6			31
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly			1
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly			1
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TDGF1 CL E G H	6997	11701	ORPHA:280200	Microform holoprosencephaly			1
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			1
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly			1
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TECPR2 CL E G H	9895	19957	ORPHA:320385	Hereditary sensory and autonomic neuropathy due to TECPR2 mutation			39
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TECPR2 CL E G H	9895	19957	OMIM:615031	Spastic paraplegia 49, autosomal recessive			39
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TERC CL E G H	7012	11727	ORPHA:2032	Idiopathic pulmonary fibrosis			48
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TERT CL E G H	7015	11730	ORPHA:2032	Idiopathic pulmonary fibrosis			238
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma			238
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TERT CL E G H	7015	11730	OMIM:614742	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1			238
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TERT CL E G H	7015	11730	OMIM:178500	Pulmonary fibrosis, idiopathic			238
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TET2 CL E G H	54790	25941	ORPHA:729	Polycythemia vera			3
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TET2 CL E G H	54790	25941	ORPHA:98826	Refractory anemia			3
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TFG CL E G H	10342	11758	ORPHA:90117	Hereditary motor and sensory neuropathy, Okinawa type			18
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TGFB1 CL E G H	7040	11766	OMIM:219700	Cystic fibrosis			13
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TGFB1 CL E G H	7040	11766	ORPHA:586	Cystic fibrosis			13
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TGFB2 CL E G H	7042	11768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			162
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TGFB3 CL E G H	7043	11769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			85
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TGFBR1 CL E G H	7046	11772	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			239
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TGFBR2 CL E G H	7048	11773	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			253
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TGFBR2 CL E G H	7048	11773	ORPHA:99977	Squamous cell carcinoma of the esophagus			253
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly			32
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly			32
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TGIF1 CL E G H	7050	11776	ORPHA:280200	Microform holoprosencephaly			32
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			32
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly			32
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	THBD CL E G H	7056	11784	OMIM:614486	Thrombophilia due to thrombomodulin defect			60
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	THPO CL E G H	7066	11795	ORPHA:71493	Familial thrombocytosis			23
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	THSD4 CL E G H	79875	25835	OMIM:619825	AORTIC ANEURYSM, FAMILIAL THORACIC 12; AAT12			2
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TICAM1 CL E G H	148022	18348	ORPHA:1930	Herpes simplex virus encephalitis			6
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TIMMDC1 CL E G H	51300	1321	ORPHA:2609	Isolated complex I deficiency			1
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3			60
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TK2 CL E G H	7084	11831	OMIM:609560	Mitochondrial DNA depletion syndrome 2 (myopathic type)			103
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TK2 CL E G H	7084	11831	ORPHA:254875	Mitochondrial DNA depletion syndrome, myopathic form			103
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57			1
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TLL1 CL E G H	7092	11843	ORPHA:99106	Atrial septal defect, ostium primum type			6
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TLL1 CL E G H	7092	11843	ORPHA:99103	Atrial septal defect, ostium secundum type			6
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TLR3 CL E G H	7098	11849	ORPHA:1930	Herpes simplex virus encephalitis			3
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease			3
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TMEM107 CL E G H	84314	28128	OMIM:617563	Orofaciodigital syndrome XVI			4
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TMEM126B CL E G H	55863	30883	ORPHA:2609	Isolated complex I deficiency			4
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TMEM138 CL E G H	51524	26944	ORPHA:2318	Joubert syndrome with oculorenal defect			39
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2			45
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TMEM216 CL E G H	51259	25018	ORPHA:2318	Joubert syndrome with oculorenal defect			45
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TMEM216 CL E G H	51259	25018	ORPHA:2754	Orofaciodigital syndrome type 6			45
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TMEM218 CL E G H	219854	27344	ORPHA:475	Joubert syndrome
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TMEM218 CL E G H	219854	27344	OMIM:619562	JOUBERT SYNDROME 39; JBTS39
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TMEM231 CL E G H	79583	37234	OMIM:614970	Joubert syndrome 20			33
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TMEM231 CL E G H	79583	37234	ORPHA:2318	Joubert syndrome with oculorenal defect			33
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TMEM237 CL E G H	65062	14432	ORPHA:475	Joubert syndrome			82
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TMEM237 CL E G H	65062	14432	ORPHA:2318	Joubert syndrome with oculorenal defect			82
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TMEM237 CL E G H	65062	14432	ORPHA:220497	Joubert syndrome with renal defect			82
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			171
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TMEM67 CL E G H	91147	28396	ORPHA:475	Joubert syndrome			166
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TMEM67 CL E G H	91147	28396	OMIM:610688	Joubert syndrome 6			166
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect			166
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2			63
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TMEM70 CL E G H	54968	26050	ORPHA:1194	TMEM70-related mitochondrial encephalo-cardio-myopathy			63
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TNF CL E G H	7124	11892	OMIM:600807	Asthma, susceptibility to			7
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TNFRSF13B CL E G H	23495	18153	ORPHA:1572	Common variable immunodeficiency			32
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TNFRSF13C CL E G H	115650	17755	ORPHA:1572	Common variable immunodeficiency			12
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TNFSF11 CL E G H	8600	11926	ORPHA:667	Autosomal recessive malignant osteopetrosis			44
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TNFSF12 CL E G H	8742	11927	ORPHA:1572	Common variable immunodeficiency			1
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TNNC1 CL E G H	7134	11943	OMIM:613243	Cardiomyopathy, familial hypertrophic, 13			73
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TNNI3 CL E G H	7137	11947	ORPHA:75249	Familial isolated restrictive cardiomyopathy			180
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TNNT1 CL E G H	7138	11948	ORPHA:98902	Amish nemaline myopathy			37
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TNNT1 CL E G H	7138	11948	OMIM:605355	NEMALINE MYOPATHY 5; NEM5			37
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TNNT2 CL E G H	7139	11949	OMIM:115195	Cardiomyopathy, familial hypertrophic, 2			248
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TNNT2 CL E G H	7139	11949	ORPHA:75249	Familial isolated restrictive cardiomyopathy			248
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TNPO3 CL E G H	23534	17103	OMIM:608423	Muscular dystrophy, limb-girdle, autosomal dominant 2			71
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7			6
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TOGARAM1 CL E G H	23116	19959	ORPHA:475	Joubert syndrome
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TOPORS CL E G H	10210	21653	ORPHA:2754	Orofaciodigital syndrome type 6			61
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5			47
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TOR1AIP1 CL E G H	26092	29456	OMIM:617072	Muscular dystrophy, limb-girdle, type 2Y			10
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TP63 CL E G H	8626	15979	ORPHA:141291	Cleft lip and alveolus			140
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TP73 CL E G H	7161	12003	OMIM:619466	CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY; CILD47
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TPI1 CL E G H	7167	12009	OMIM:615512	Triosephosphate isomerase deficiency			28
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TPM2 CL E G H	7169	12011	ORPHA:171881	Cap myopathy			54
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy			54
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy			54
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TPM2 CL E G H	7169	12011	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			54
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TPM2 CL E G H	7169	12011	OMIM:609285	Nemaline myopathy 4			54
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TPM2 CL E G H	7169	12011	ORPHA:171436	Typical nemaline myopathy			54
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TPM3 CL E G H	7170	12012	ORPHA:171881	Cap myopathy			108
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy			108
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy			108
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TPM3 CL E G H	7170	12012	ORPHA:171433	Intermediate nemaline myopathy			108
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TPM3 CL E G H	7170	12012	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			108
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TPM3 CL E G H	7170	12012	OMIM:609284	Nemaline myopathy 1			108
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TRAF3 CL E G H	7187	12033	ORPHA:1930	Herpes simplex virus encephalitis			2
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TRAF3IP2 CL E G H	10758	1343	ORPHA:1334	Chronic mucocutaneous candidiasis			4
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TRAF7 CL E G H	84231	20456	OMIM:618164	Cardiac, facial, and digital anomalies with developmental delay
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TRAIP CL E G H	10293	30764	OMIM:616777	Seckel syndrome 9			2
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TRAK1 CL E G H	22906	29947	OMIM:618201	Epileptic encephalopathy, early infantile, 68
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TRAPPC11 CL E G H	60684	25751	ORPHA:369847	Intellectual disability-hyperkinetic movement-truncal ataxia syndrome			27
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TRAPPC11 CL E G H	60684	25751	ORPHA:869	Triple A syndrome			27
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TREM2 CL E G H	54209	17761	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		31
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TRIM2 CL E G H	23321	15974	OMIM:615490	Charcot-Marie-Tooth disease, axonal, type 2R			3
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TRIP11 CL E G H	9321	12305	ORPHA:166272	Odontochondrodysplasia			133
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TRIP11 CL E G H	9321	12305	OMIM:184260	Osteochondrodysplasia			133
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome			2
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TRIP4 CL E G H	9325	12310	ORPHA:486815	Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome			4
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TRIP4 CL E G H	9325	12310	OMIM:617066	Muscular dystrophy, congenital, Davignon-Chauveau type			4
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TRIP4 CL E G H	9325	12310	OMIM:616866	Spinal muscular atrophy with congenital bone fractures 1			4
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TRMT5 CL E G H	57570	23141	OMIM:616539	Combined oxidative phosphorylation deficiency 26			4
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TRMU CL E G H	55687	25481	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency			101
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TRNE CL E G H	4556	7479	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TRNE CL E G H	4556	7479	ORPHA:2596	Myopathy and diabetes mellitus
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TRNF CL E G H	4558	7481	ORPHA:550	MELAS
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TRNH CL E G H	4564	7487	ORPHA:550	MELAS
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TRNK CL E G H	4566	7489	ORPHA:1349	Mitochondrial DNA-related cardiomyopathy and hearing loss
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TRNL1 CL E G H	4567	7490	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TRNL2 CL E G H	4568	7491	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TRNN CL E G H	4570	7493	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TRNS1 CL E G H	4574	7497	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TRNT CL E G H	4576	7499	ORPHA:254857	Lethal infantile mitochondrial myopathy
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TRNW CL E G H	4578	7501	ORPHA:550	MELAS
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TRPM4 CL E G H	54795	17993	ORPHA:871	Familial progressive cardiac conduction defect			124
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC			214
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TRPV4 CL E G H	59341	18083	OMIM:156530	Metatropic dysplasia			214
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TRPV4 CL E G H	59341	18083	OMIM:181405	Scapuloperoneal spinal muscular atrophy			214
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TRPV6 CL E G H	55503	14006	OMIM:618188	Hyperparathyroidism, transient neonatal			4
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism			2
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis			1090
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex			1090
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis			2738
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex			2738
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TSEN15 CL E G H	116461	16791	ORPHA:2524	Pontocerebellar hypoplasia type 2			3
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TSEN2 CL E G H	80746	28422	ORPHA:2524	Pontocerebellar hypoplasia type 2			84
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TSEN34 CL E G H	79042	15506	ORPHA:2524	Pontocerebellar hypoplasia type 2			57
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TSEN54 CL E G H	283989	27561	ORPHA:2524	Pontocerebellar hypoplasia type 2			102
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TSEN54 CL E G H	283989	27561	ORPHA:166063	Pontocerebellar hypoplasia type 4			102
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TSEN54 CL E G H	283989	27561	OMIM:225753	Pontocerebellar hypoplasia, type 4			102
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TSFM CL E G H	10102	12367	OMIM:610505	Combined oxidative phosphorylation deficiency 3			43
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TSPYL1 CL E G H	7259	12382	OMIM:608800	Sudden infant death with dysgenesis of the testes syndrome			1
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TSPYL1 CL E G H	7259	12382	ORPHA:168593	Sudden infant death-dysgenesis of the testes syndrome			1
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TTC12 CL E G H	54970	23700	OMIM:618801	CILIARY DYSKINESIA, PRIMARY, 45; CILD45
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TTC12 CL E G H	54970	23700	ORPHA:244	Primary ciliary dyskinesia
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TTC21B CL E G H	79809	25660	ORPHA:474	Jeune syndrome			132
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TTN CL E G H	7273	12403	ORPHA:169186	Autosomal recessive centronuclear myopathy			7128
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TTN CL E G H	7273	12403	ORPHA:324604	Classic multiminicore myopathy			7128
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TTN CL E G H	7273	12403	ORPHA:178464	Hereditary myopathy with early respiratory failure			7128
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TTN CL E G H	7273	12403	OMIM:603689	Myopathy, myofibrillar, 9, with early respiratory failure			7128
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence			106
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TUBB4A CL E G H	10382	20774	ORPHA:98805	Primary dystonia, DYT4 type			66
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TUFM CL E G H	7284	12420	OMIM:610678	Combined oxidative phosphorylation deficiency 4			55
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome			18
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			113
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			113
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	TXNDC15 CL E G H	79770	20652	OMIM:619879				2
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	UBA1 CL E G H	7317	12469	ORPHA:1145	Infantile-onset X-linked spinal muscular atrophy			35
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	UBA1 CL E G H	7317	12469	OMIM:301830	Spinal muscular atrophy, X-linked 2			35
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type			7
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome			13
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	UBE3B CL E G H	89910	13478	ORPHA:2707	Oculocerebrofacial syndrome, Kaufman type			13
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	UBQLN2 CL E G H	29978	12509	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		20
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	UFM1 CL E G H	51569	20597	OMIM:617899	Leukodystrophy, hypomyelinating, 14
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	UNC13A CL E G H	23025	23150	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		1
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	UNC45A CL E G H	55898	30594	OMIM:619377	OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	UNC45B CL E G H	146862	14304	OMIM:619178	MYOFIBRILLAR MYOPATHY 11; MFM11			1
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome			23
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	UNC93B1 CL E G H	81622	13481	ORPHA:1930	Herpes simplex virus encephalitis			5
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	UQCRC2 CL E G H	7385	12586	OMIM:615160	Mitochondrial complex III deficiency, nuclear type 5			17
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	UQCRFS1 CL E G H	7386	12587	OMIM:618775	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	USP18 CL E G H	11274	12616	OMIM:617397	Pseudo-Torch syndrome 2			2
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	USP7 CL E G H	7874	12630	ORPHA:500055	16p13.2 microdeletion syndrome			2
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	USP7 CL E G H	7874	12630	OMIM:616863	Chromosome 16p13.2 deletion syndrome			2
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted			27
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability			27
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome			6
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	VAPB CL E G H	9217	12649	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		116
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	VARS2 CL E G H	57176	21642	OMIM:615917	Combined oxidative phosphorylation deficiency 20			56
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	VCL CL E G H	7414	12665	OMIM:613255	Cardiomyopathy, familial hypertrophic, 15			248
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	VCP CL E G H	7415	12666	ORPHA:329478	Adult-onset distal myopathy due to VCP mutation			63
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	VCP CL E G H	7415	12666	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		63
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	VCP CL E G H	7415	12666	OMIM:613954	Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia			63
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	VCP CL E G H	7415	12666	ORPHA:435387	Autosomal dominant Charcot-Marie-Tooth disease type 2Y			63
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	VCP CL E G H	7415	12666	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia			63
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	VHL CL E G H	7428	12687	OMIM:263400	Erythrocytosis, familial, 2			490
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	VMA21 CL E G H	203547	22082	OMIM:310440	Myopathy, X-linked, with excessive autophagy			10
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders			1
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome			1
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	VRK1 CL E G H	7443	12718	ORPHA:2254	Pontocerebellar hypoplasia type 1			32
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	VRK1 CL E G H	7443	12718	OMIM:607596	Pontocerebellar hypoplasia type 1A			32
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation			20
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome			65
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	WDR19 CL E G H	57728	18340	ORPHA:474	Jeune syndrome			95
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	WDR19 CL E G H	57728	18340	OMIM:614376	Short-Rib thoracic dysplasia 5 with or without polydactyly			95
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type			136
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	WDR45B CL E G H	56270	25072	OMIM:617977	Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures			1
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	WFS1 CL E G H	7466	12762	ORPHA:3463	Wolfram syndrome			389
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	WFS1 CL E G H	7466	12762	ORPHA:411590	Wolfram-like syndrome			389
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome			6
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	WWOX CL E G H	51741	12799	ORPHA:99977	Squamous cell carcinoma of the esophagus			149
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	XPNPEP2 CL E G H	7512	12823	ORPHA:100057	Renin-angiotensin-aldosterone system-blocker-induced angioedema			4
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2			14
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	XYLT1 CL E G H	64131	15516	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE			14
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	XYLT2 CL E G H	64132	15517	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE			5
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	YARS2 CL E G H	51067	24249	OMIM:613561	Myopathy, lactic acidosis, and sideroblastic anemia 2			45
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ZBTB16 CL E G H	7704	12930	ORPHA:520	Acute promyelocytic leukemia			1
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ZBTB7A CL E G H	51341	18078	OMIM:619769	MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome			19
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ZFPM2 CL E G H	23414	16700	ORPHA:2140	Congenital diaphragmatic hernia			31
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly			34
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly			34
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ZIC2 CL E G H	7546	12873	ORPHA:280200	Microform holoprosencephaly			34
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			34
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly			34
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked			39
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome			83
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ZMYND10 CL E G H	51364	19412	OMIM:615444	Ciliary dyskinesia, primary, 22			20
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ZMYND10 CL E G H	51364	19412	ORPHA:244	Primary ciliary dyskinesia			20
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ZNF148 CL E G H	7707	12933	OMIM:617260	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies			4
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ZNF423 CL E G H	23090	16762	ORPHA:2318	Joubert syndrome with oculorenal defect			49
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ZSWIM6 CL E G H	57688	29316	OMIM:603671	Acromelic frontonasal dysostosis			5
HP:0002795	HP:0002795	Abnormal respiratory system physiology	0	ZSWIM6 CL E G H	57688	29316	ORPHA:1827	Acromelic frontonasal dysplasia			5
HP:0002795	HP:0025008	Tracheal tug on inspiration	1	CL E G H
HP:0002795	HP:0002093	Respiratory insufficiency	1	AAAS CL E G H	8086	13666	ORPHA:869	Triple A syndrome	HP:0040283 - Occasional		57
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	AARS1 CL E G H	16	20	OMIM:619661	LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS 2; HDLS2
HP:0002795	HP:0002093	Respiratory insufficiency	1	ABCA12 CL E G H	26154	14637	ORPHA:457	Harlequin ichthyosis	HP:0040283 - Occasional		130
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	ABCA3 CL E G H	21	33	ORPHA:2032	Idiopathic pulmonary fibrosis			147
HP:0002795	HP:0012735	Cough	1	ABCA3 CL E G H	21	33	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent		147
HP:0002795	HP:0030829	Abnormal breath sound	1	ABCA3 CL E G H	21	33	ORPHA:2032	Idiopathic pulmonary fibrosis			147
HP:0002795	HP:0002093	Respiratory insufficiency	1	ABCA3 CL E G H	21	33	ORPHA:70587	Infant acute respiratory distress syndrome			147
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	ABCA3 CL E G H	21	33	ORPHA:70587	Infant acute respiratory distress syndrome			147
HP:0002795	HP:0012415	Abnormal blood gas level	1	ABCA3 CL E G H	21	33	ORPHA:70587	Infant acute respiratory distress syndrome			147
HP:0002795	HP:0002093	Respiratory insufficiency	1	ABCA3 CL E G H	21	33	OMIM:610921	Surfactant metabolism dysfunction, pulmonary, 3			147
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	ABCA3 CL E G H	21	33	OMIM:610921	Surfactant metabolism dysfunction, pulmonary, 3			147
HP:0002795	HP:0012415	Abnormal blood gas level	1	ABCA3 CL E G H	21	33	OMIM:610921	Surfactant metabolism dysfunction, pulmonary, 3			147
HP:0002795	HP:0012735	Cough	1	ABCA3 CL E G H	21	33	OMIM:610921	Surfactant metabolism dysfunction, pulmonary, 3			147
HP:0002795	HP:0002093	Respiratory insufficiency	1	ABCB11 CL E G H	8647	42	ORPHA:69665	Intrahepatic cholestasis of pregnancy			146
HP:0002795	HP:0002093	Respiratory insufficiency	1	ABCB4 CL E G H	5244	45	ORPHA:69665	Intrahepatic cholestasis of pregnancy			111
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy			415
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy			415
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	ABCC6 CL E G H	368	57	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE			415
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	ABCC9 CL E G H	10060	60	OMIM:619719	INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS			254
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type			53
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type			53
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	ABCG5 CL E G H	64240	13886	ORPHA:391665	Homozygous familial hypercholesterolemia			67
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	ABCG8 CL E G H	64241	13887	ORPHA:391665	Homozygous familial hypercholesterolemia			76
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency			197
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	ACADS CL E G H	35	90	ORPHA:26792	Short chain acyl-CoA dehydrogenase deficiency			90
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	ACADSB CL E G H	36	91	OMIM:610006	2-Methylbutyryl-Coa dehydrogenase deficiency			111
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency			200
HP:0002795	HP:0002093	Respiratory insufficiency	1	ACADVL CL E G H	37	92	OMIM:201475	Very long-chain acyl-CoA dehydrogenase deficiency			200
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	ACADVL CL E G H	37	92	OMIM:201475	Very long-chain acyl-CoA dehydrogenase deficiency			200
HP:0002795	HP:0025427	Abnormal bronchus physiology	1	ACAN CL E G H	176	319	OMIM:612813	Spondyloepimetaphyseal dysplasia, Aggrecan type			34
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	ACAT1 CL E G H	38	93	ORPHA:134	Beta-ketothiolase deficiency			91
HP:0002795	HP:0012735	Cough	1	ACAT1 CL E G H	38	93	ORPHA:134	Beta-ketothiolase deficiency	HP:0040282 - Frequent		91
HP:0002795	HP:0002093	Respiratory insufficiency	1	ACE CL E G H	1636	2707	OMIM:267430	Renal tubular dysgenesis	.		113
HP:0002795	HP:0002093	Respiratory insufficiency	1	ACOX1 CL E G H	51	119	OMIM:618960	MITCHELL SYNDROME; MITCH			120
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	ACOX1 CL E G H	51	119	OMIM:618960	MITCHELL SYNDROME; MITCH			120
HP:0002795	HP:0002093	Respiratory insufficiency	1	ACOX1 CL E G H	51	119	ORPHA:2971	Peroxisomal acyl-CoA oxidase deficiency	HP:0040282 - Frequent		120
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation			16
HP:0002795	HP:0002093	Respiratory insufficiency	1	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy			96
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy			96
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy			96
HP:0002795	HP:0002093	Respiratory insufficiency	1	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy			96
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		96
HP:0002795	HP:0012415	Abnormal blood gas level	1	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy			96
HP:0002795	HP:0002093	Respiratory insufficiency	1	ACTA1 CL E G H	58	129	ORPHA:171433	Intermediate nemaline myopathy			96
HP:0002795	HP:0002093	Respiratory insufficiency	1	ACTA1 CL E G H	58	129	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.		96
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	ACTA1 CL E G H	58	129	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			96
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	ACTA1 CL E G H	58	129	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			96
HP:0002795	HP:0002093	Respiratory insufficiency	1	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3	.		96
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3			96
HP:0002795	HP:0002093	Respiratory insufficiency	1	ACTA1 CL E G H	58	129	ORPHA:97244	Rigid spine syndrome	HP:0040281 - Very frequent		96
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	ACTA1 CL E G H	58	129	ORPHA:97244	Rigid spine syndrome	HP:0040282 - Frequent		96
HP:0002795	HP:0002093	Respiratory insufficiency	1	ACTA1 CL E G H	58	129	ORPHA:171430	Severe congenital nemaline myopathy			96
HP:0002795	HP:0002093	Respiratory insufficiency	1	ACTA1 CL E G H	58	129	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent		96
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	ACTA1 CL E G H	58	129	ORPHA:171436	Typical nemaline myopathy			96
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	ACTA2 CL E G H	59	130	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			94
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	ACTA2 CL E G H	59	130	OMIM:613834	Multisystemic smooth muscle dysfunction syndrome			94
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	ACTA2 CL E G H	59	130	OMIM:613834	Multisystemic smooth muscle dysfunction syndrome			94
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	ACTC1 CL E G H	70	143	ORPHA:99103	Atrial septal defect, ostium secundum type			208
HP:0002795	HP:0005957	Breathing dysregulation	1	ACTC1 CL E G H	70	143	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional		208
HP:0002795	HP:0006536	Airway obstruction	1	ACTC1 CL E G H	70	143	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040284 - Very rare		208
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	ACTC1 CL E G H	70	143	ORPHA:99103	Atrial septal defect, ostium secundum type			208
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	ACTC1 CL E G H	70	143	OMIM:612098	Cardiomyopathy, familial hypertrophic, 11			208
HP:0002795	HP:0002093	Respiratory insufficiency	1	ACTN2 CL E G H	88	164	OMIM:618654	MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES; MYOCOZ			307
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	ACTN2 CL E G H	88	164	OMIM:618654	MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES; MYOCOZ			307
HP:0002795	HP:0002093	Respiratory insufficiency	1	ACVR1 CL E G H	90	171	ORPHA:337	Fibrodysplasia ossificans progressiva	HP:0040282 - Frequent		49
HP:0002795	HP:0002093	Respiratory insufficiency	1	ACVR1 CL E G H	90	171	OMIM:135100	Fibrodysplasia ossificans progressiva	.		49
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	ACVRL1 CL E G H	94	175	ORPHA:774	Hereditary hemorrhagic telangiectasia			178
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2			178
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2			178
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	ACY1 CL E G H	95	177	ORPHA:137754	Neurological conditions associated with aminoacylase 1 deficiency			13
HP:0002795	HP:0002099	Asthma	1	ADA CL E G H	100	186	OMIM:102700	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	.		75
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	ADAM22 CL E G H	53616	201	OMIM:617933	Epileptic encephalopathy, early infantile, 61
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	ADAMTS13 CL E G H	11093	1366	OMIM:274150	Thrombotic thrombocytopenic purpura, hereditary			129
HP:0002795	HP:0002093	Respiratory insufficiency	1	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome	HP:0040283 - Occasional		1
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	ADCY6 CL E G H	112	237	ORPHA:2680	Hypomyelination neuropathy-arthrogryposis syndrome			2
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria			88
HP:0002795	HP:0002835	Aspiration	1	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional		88
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome			47
HP:0002795	HP:0002835	Aspiration	1	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome	HP:0040283 - Occasional		47
HP:0002795	HP:0002093	Respiratory insufficiency	1	ADPRS CL E G H	54936	21304	OMIM:618170	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
HP:0002795	HP:0032933	Airway hyperresponsiveness	1	ADRB2 CL E G H	154	286	OMIM:600807	Asthma, susceptibility to			5
HP:0002795	HP:0002099	Asthma	1	ADRB2 CL E G H	154	286	OMIM:600807	Asthma, susceptibility to	.		5
HP:0002795	HP:0025427	Abnormal bronchus physiology	1	ADRB2 CL E G H	154	286	OMIM:600807	Asthma, susceptibility to			5
HP:0002795	HP:0002093	Respiratory insufficiency	1	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS			1
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome			6
HP:0002795	HP:0006528	Chronic lung disease	1	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome	.		6
HP:0002795	HP:0002099	Asthma	1	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome	HP:0040283 - Occasional		6
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome			6
HP:0002795	HP:0006528	Chronic lung disease	1	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome	HP:0040282 - Frequent		6
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome			6
HP:0002795	HP:0002093	Respiratory insufficiency	1	AGGF1 CL E G H	55109	24684	ORPHA:90308	Klippel-Trénaunay syndrome	HP:0040283 - Occasional		1
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	AGGF1 CL E G H	55109	24684	ORPHA:90308	Klippel-Trénaunay syndrome			1
HP:0002795	HP:0002093	Respiratory insufficiency	1	AGK CL E G H	55750	21869	OMIM:212350	Sengers syndrome	.		82
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	AGO2 CL E G H	27161	3263	OMIM:619149	LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0002795	HP:0002093	Respiratory insufficiency	1	AGRN CL E G H	375790	329	OMIM:615120	Myasthenic syndrome, congenital, 8	HP:0040283 - Occasional		127
HP:0002795	HP:0002093	Respiratory insufficiency	1	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			127
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			127
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			127
HP:0002795	HP:0002093	Respiratory insufficiency	1	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes			127
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes			127
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes			127
HP:0002795	HP:0030829	Abnormal breath sound	1	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes			127
HP:0002795	HP:0002093	Respiratory insufficiency	1	AGT CL E G H	183	333	OMIM:267430	Renal tubular dysgenesis	.		48
HP:0002795	HP:0002093	Respiratory insufficiency	1	AGTPBP1 CL E G H	23287	17258	OMIM:618276	Neurodegeneration, childhood-onset, with cerebellar atrophy			1
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	AGTPBP1 CL E G H	23287	17258	OMIM:618276	Neurodegeneration, childhood-onset, with cerebellar atrophy			1
HP:0002795	HP:0002093	Respiratory insufficiency	1	AGTPBP1 CL E G H	23287	17258	ORPHA:2254	Pontocerebellar hypoplasia type 1			1
HP:0002795	HP:0030829	Abnormal breath sound	1	AGTPBP1 CL E G H	23287	17258	ORPHA:2254	Pontocerebellar hypoplasia type 1			1
HP:0002795	HP:0002093	Respiratory insufficiency	1	AGTR1 CL E G H	185	336	OMIM:267430	Renal tubular dysgenesis	.		33
HP:0002795	HP:0002093	Respiratory insufficiency	1	AHCY CL E G H	191	343	ORPHA:88618	S-adenosylhomocysteine hydrolase deficiency			31
HP:0002795	HP:0002093	Respiratory insufficiency	1	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome			36
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome			36
HP:0002795	HP:0006536	Airway obstruction	1	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome			36
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	AHDC1 CL E G H	27245	25230	OMIM:615829	Xia-Gibbs syndrome			36
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	AHI1 CL E G H	54806	21575	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		175
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	AHI1 CL E G H	54806	21575	OMIM:608629	Joubert syndrome 3			175
HP:0002795	HP:0005957	Breathing dysregulation	1	AHI1 CL E G H	54806	21575	OMIM:608629	Joubert syndrome 3			175
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	AHI1 CL E G H	54806	21575	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040281 - Very frequent		175
HP:0002795	HP:0002093	Respiratory insufficiency	1	AIFM1 CL E G H	9131	8768	OMIM:300816	Combined oxidative phosphorylation deficiency 6			60
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	AIFM1 CL E G H	9131	8768	OMIM:300816	Combined oxidative phosphorylation deficiency 6			60
HP:0002795	HP:0002093	Respiratory insufficiency	1	AIFM1 CL E G H	9131	8768	ORPHA:238329	Severe X-linked mitochondrial encephalomyopathy	HP:0040282 - Frequent		60
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	AIFM1 CL E G H	9131	8768	ORPHA:238329	Severe X-linked mitochondrial encephalomyopathy			60
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	AIP CL E G H	9049	358	ORPHA:963	Acromegaly			95
HP:0002795	HP:0002093	Respiratory insufficiency	1	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			1
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			1
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			1
HP:0002795	HP:0006520	Progressive pulmonary function impairment	1	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040284 - Very rare		54
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040284 - Very rare		54
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome			54
HP:0002795	HP:0002093	Respiratory insufficiency	1	ALAD CL E G H	210	395	ORPHA:100924	Porphyria due to ALA dehydratase deficiency	HP:0040283 - Occasional		62
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	ALAD CL E G H	210	395	OMIM:612740	Porphyria, acute hepatic			62
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	ALAS2 CL E G H	212	397	ORPHA:75563	X-linked sideroblastic anemia			72
HP:0002795	HP:0002093	Respiratory insufficiency	1	ALDH1A2 CL E G H	8854	15472	OMIM:620025
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	ALDH1A2 CL E G H	8854	15472	OMIM:620025
HP:0002795	HP:0002093	Respiratory insufficiency	1	ALDH7A1 CL E G H	501	877	OMIM:266100	Epilepsy, pyridoxine-dependent			227
HP:0002795	HP:0002093	Respiratory insufficiency	1	ALDH7A1 CL E G H	501	877	ORPHA:3006	Pyridoxine-dependent epilepsy			227
HP:0002795	HP:0002093	Respiratory insufficiency	1	ALG1 CL E G H	56052	18294	ORPHA:79327	ALG1-CDG			58
HP:0002795	HP:0002093	Respiratory insufficiency	1	ALG14 CL E G H	199857	28287	OMIM:619036	MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA			12
HP:0002795	HP:0002099	Asthma	1	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional		93
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome			404
HP:0002795	HP:0006536	Airway obstruction	1	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome			404
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome			404
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome			404
HP:0002795	HP:0002099	Asthma	1	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome	.		404
HP:0002795	HP:0032933	Airway hyperresponsiveness	1	ALOX5 CL E G H	240	435	OMIM:600807	Asthma, susceptibility to			4
HP:0002795	HP:0002099	Asthma	1	ALOX5 CL E G H	240	435	OMIM:600807	Asthma, susceptibility to	.		4
HP:0002795	HP:0025427	Abnormal bronchus physiology	1	ALOX5 CL E G H	240	435	OMIM:600807	Asthma, susceptibility to			4
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	ALPL CL E G H	249	438	OMIM:241500	Hypophosphatasia, infantile			126
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis			34
HP:0002795	HP:0002093	Respiratory insufficiency	1	ANG CL E G H	283	483	ORPHA:803	Amyotrophic lateral sclerosis			32
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	ANG CL E G H	283	483	ORPHA:803	Amyotrophic lateral sclerosis			32
HP:0002795	HP:0002093	Respiratory insufficiency	1	ANXA11 CL E G H	311	535	ORPHA:803	Amyotrophic lateral sclerosis
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	ANXA11 CL E G H	311	535	ORPHA:803	Amyotrophic lateral sclerosis
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	AP3D1 CL E G H	8943	568	OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10; HPS10			1
HP:0002795	HP:0006536	Airway obstruction	1	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion	HP:0040283 - Occasional		3179
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	APOB CL E G H	338	603	ORPHA:391665	Homozygous familial hypercholesterolemia			356
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	ARCN1 CL E G H	372	649	OMIM:617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay			3
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome			147
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1			147
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	ARL13B CL E G H	200894	25419	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		62
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	ARL13B CL E G H	200894	25419	OMIM:612291	JOUBERT SYNDROME 8; JBTS8			62
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	ARL3 CL E G H	403	694	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		1
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	ARL3 CL E G H	403	694	OMIM:618161	JOUBERT SYNDROME 35; JBTS35			1
HP:0002795	HP:0002099	Asthma	1	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1	.		29
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	ARMC9 CL E G H	80210	20730	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	ARMC9 CL E G H	80210	20730	OMIM:617622	JOUBERT SYNDROME 30; JBTS30
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI			120
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI			120
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI			120
HP:0002795	HP:0002093	Respiratory insufficiency	1	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata
HP:0002795	HP:0002099	Asthma	1	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata	HP:0040283 - Occasional
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata
HP:0002795	HP:0002099	Asthma	1	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		1
HP:0002795	HP:0006536	Airway obstruction	1	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome			1
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	ARX CL E G H	170302	18060	OMIM:308350	Developmental and epileptic encephalopathy 1			166
HP:0002795	HP:0002093	Respiratory insufficiency	1	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease	HP:0040283 - Occasional		78
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease			78
HP:0002795	HP:0002093	Respiratory insufficiency	1	ASAH1 CL E G H	427	735	OMIM:228000	Farber lipogranulomatosis	.		78
HP:0002795	HP:0002093	Respiratory insufficiency	1	ASAH1 CL E G H	427	735	OMIM:159950	Spinal muscular atrophy with progressive myoclonic epilepsy			78
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	ASAH1 CL E G H	427	735	OMIM:159950	Spinal muscular atrophy with progressive myoclonic epilepsy			78
HP:0002795	HP:0002093	Respiratory insufficiency	1	ASAH1 CL E G H	427	735	ORPHA:2590	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome			78
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	ASAH1 CL E G H	427	735	ORPHA:2590	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome			78
HP:0002795	HP:0002093	Respiratory insufficiency	1	ASCC1 CL E G H	51008	24268	OMIM:616867	Spinal muscular atrophy with congenital bone fractures 2			2
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	ASCL1 CL E G H	429	738	ORPHA:99803	Haddad syndrome			15
HP:0002795	HP:0005957	Breathing dysregulation	1	ASCL1 CL E G H	429	738	ORPHA:99803	Haddad syndrome	HP:0040281 - Very frequent		15
HP:0002795	HP:0002093	Respiratory insufficiency	1	ASNS CL E G H	440	753	OMIM:615574	Asparagine synthetase deficiency	.		17
HP:0002795	HP:0002093	Respiratory insufficiency	1	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome			145
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome			145
HP:0002795	HP:0002093	Respiratory insufficiency	1	ATAD1 CL E G H	84896	25903	OMIM:618011	Hyperekplexia 4
HP:0002795	HP:0012735	Cough	1	ATL1 CL E G H	51062	11231	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040283 - Occasional		71
HP:0002795	HP:0012735	Cough	1	ATL3 CL E G H	25923	24526	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040283 - Occasional		5
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies			16
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	ATP11A CL E G H	23250	13552	ORPHA:2032	Idiopathic pulmonary fibrosis
HP:0002795	HP:0012735	Cough	1	ATP11A CL E G H	23250	13552	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent
HP:0002795	HP:0030829	Abnormal breath sound	1	ATP11A CL E G H	23250	13552	ORPHA:2032	Idiopathic pulmonary fibrosis
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	ATP13A3 CL E G H	79572	24113	OMIM:265400	Pulmonary hypertension, primary, autosomal recessive
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	ATP13A3 CL E G H	79572	24113	OMIM:265400	Pulmonary hypertension, primary, autosomal recessive
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood			239
HP:0002795	HP:0002835	Aspiration	1	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional		239
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	ATP1A2 CL E G H	477	800	OMIM:619605	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98; DEE98			239
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood			150
HP:0002795	HP:0002835	Aspiration	1	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional		150
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	ATP1A3 CL E G H	478	801	OMIM:619606	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99			150
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	ATP5F1A CL E G H	498	823	OMIM:616045	Combined oxidative phosphorylation deficiency 22
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	ATP5F1A CL E G H	498	823	OMIM:615228	Mitochondrial complex V (atp synthase) deficiency, nuclear type 4
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome			5
HP:0002795	HP:0030829	Abnormal breath sound	1	ATP8B1 CL E G H	5205	3706	OMIM:211600	Cholestasis, progressive familial intrahepatic 1			144
HP:0002795	HP:0002093	Respiratory insufficiency	1	ATP8B1 CL E G H	5205	3706	ORPHA:69665	Intrahepatic cholestasis of pregnancy			144
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	ATRX CL E G H	546	886	ORPHA:231401	Alpha-thalassemia-myelodysplastic syndrome			169
HP:0002795	HP:0025427	Abnormal bronchus physiology	1	ATRX CL E G H	546	886	ORPHA:100075	Neuroendocrine tumor of stomach			169
HP:0002795	HP:0002093	Respiratory insufficiency	1	ATXN1 CL E G H	6310	10548	ORPHA:98755	Spinocerebellar ataxia type 1			19
HP:0002795	HP:0002093	Respiratory insufficiency	1	ATXN2 CL E G H	6311	10555	ORPHA:803	Amyotrophic lateral sclerosis			11
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	ATXN2 CL E G H	6311	10555	ORPHA:803	Amyotrophic lateral sclerosis			11
HP:0002795	HP:0002835	Aspiration	1	ATXN8 CL E G H	724066	32925	ORPHA:98760	Spinocerebellar ataxia type 8	HP:0040283 - Occasional		1
HP:0002795	HP:0002835	Aspiration	1	ATXN8OS CL E G H	6315	10561	ORPHA:98760	Spinocerebellar ataxia type 8	HP:0040283 - Occasional		1
HP:0002795	HP:0002093	Respiratory insufficiency	1	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040283 - Occasional		38
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome			38
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome			38
HP:0002795	HP:0002093	Respiratory insufficiency	1	B3GALT6 CL E G H	126792	17978	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity			38
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	B9D1 CL E G H	27077	24123	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		28
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	B9D2 CL E G H	80776	28636	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		34
HP:0002795	HP:0002093	Respiratory insufficiency	1	BAG3 CL E G H	9531	939	OMIM:612954	Myopathy, myofibrillar, 6	.		204
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	BAG3 CL E G H	9531	939	OMIM:612954	Myopathy, myofibrillar, 6			204
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome			22
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome			22
HP:0002795	HP:0006520	Progressive pulmonary function impairment	1	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040284 - Very rare		184
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040284 - Very rare		184
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	BAP1 CL E G H	8314	950	ORPHA:50251	Pleural mesothelioma			184
HP:0002795	HP:0012735	Cough	1	BAP1 CL E G H	8314	950	ORPHA:50251	Pleural mesothelioma	HP:0040282 - Frequent		184
HP:0002795	HP:0002099	Asthma	1	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1	.		114
HP:0002795	HP:0002093	Respiratory insufficiency	1	BCHE CL E G H	590	983	ORPHA:132	Butyrylcholinesterase deficiency			67
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	BCHE CL E G H	590	983	OMIM:617936	BUTYRYLCHOLINESTERASE DEFICIENCY; BCHED			67
HP:0002795	HP:0002099	Asthma	1	BCL11B CL E G H	64919	13222	OMIM:618092	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES	HP:0040284 - Very rare		3
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	BCOR CL E G H	54880	20893	ORPHA:520	Acute promyelocytic leukemia			101
HP:0002795	HP:0012735	Cough	1	BCOR CL E G H	54880	20893	ORPHA:520	Acute promyelocytic leukemia			101
HP:0002795	HP:0002093	Respiratory insufficiency	1	BDNF CL E G H	627	1033	ORPHA:661	Ondine syndrome	HP:0040281 - Very frequent		5
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant			46
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant			46
HP:0002795	HP:0002093	Respiratory insufficiency	1	BICD2 CL E G H	23299	17208	OMIM:618291	Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant			46
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	BICD2 CL E G H	23299	17208	OMIM:618291	Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant			46
HP:0002795	HP:0002093	Respiratory insufficiency	1	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy			99
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy			99
HP:0002795	HP:0002093	Respiratory insufficiency	1	BIN1 CL E G H	274	1052	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040282 - Frequent		99
HP:0002795	HP:0002093	Respiratory insufficiency	1	BIN1 CL E G H	274	1052	OMIM:255200	Myopathy, centronuclear, 2			99
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	BIN1 CL E G H	274	1052	OMIM:255200	Myopathy, centronuclear, 2			99
HP:0002795	HP:0002093	Respiratory insufficiency	1	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome			314
HP:0002795	HP:0006528	Chronic lung disease	1	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome	.		314
HP:0002795	HP:0006536	Airway obstruction	1	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome			314
HP:0002795	HP:0012735	Cough	1	BLNK CL E G H	29760	14211	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040281 - Very frequent		4
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	BMP2 CL E G H	650	1069	OMIM:617877	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies			13
HP:0002795	HP:0002093	Respiratory insufficiency	1	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS	.		78
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS			78
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	BMPER CL E G H	168667	24154	ORPHA:66637	Diaphanospondylodysostosis			78
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	BMPR2 CL E G H	659	1078	OMIM:178600	Pulmonary hypertension, primary, 1			525
HP:0002795	HP:0012735	Cough	1	BMPR2 CL E G H	659	1078	OMIM:178600	Pulmonary hypertension, primary, 1			525
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	BMPR2 CL E G H	659	1078	OMIM:178600	Pulmonary hypertension, primary, 1			525
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	BMPR2 CL E G H	659	1078	OMIM:265450	PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT; PVOD1			525
HP:0002795	HP:0002093	Respiratory insufficiency	1	BOLA3 CL E G H	388962	24415	OMIM:614299	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia	.		14
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	BOLA3 CL E G H	388962	24415	OMIM:614299	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia			14
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma			276
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	BRAT1 CL E G H	221927	21701	OMIM:618056	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures			20
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	BRAT1 CL E G H	221927	21701	OMIM:614498	Rigidity and multifocal seizure syndrome, lethal neonatal			20
HP:0002795	HP:0002093	Respiratory insufficiency	1	BSCL2 CL E G H	26580	15832	ORPHA:363400	Severe neurodegenerative syndrome with lipodystrophy			105
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	BTD CL E G H	686	1122	ORPHA:79241	Biotinidase deficiency			223
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	BTD CL E G H	686	1122	OMIM:253260	Biotinidase deficiencymultiple carboxylase deficiency, late-onset			223
HP:0002795	HP:0030829	Abnormal breath sound	1	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked			109
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis			1
HP:0002795	HP:0006536	Airway obstruction	1	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis			1
HP:0002795	HP:0012735	Cough	1	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis	HP:0040282 - Frequent		1
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	BTNL2 CL E G H	56244	1142	OMIM:612387	Sarcoidosis, susceptibility to, 2			1
HP:0002795	HP:0012415	Abnormal blood gas level	1	BTNL2 CL E G H	56244	1142	OMIM:612387	Sarcoidosis, susceptibility to, 2			1
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	BTNL2 CL E G H	56244	1142	OMIM:612387	Sarcoidosis, susceptibility to, 2			1
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	BTNL2 CL E G H	56244	1142	OMIM:612387	Sarcoidosis, susceptibility to, 2			1
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome			5
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome			76
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome
HP:0002795	HP:0002093	Respiratory insufficiency	1	C19ORF12 CL E G H	83636	25443	ORPHA:289560	Mitochondrial membrane protein-associated neurodegeneration	HP:0040284 - Very rare		114
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14			27
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	C4A CL E G H	720	1323	ORPHA:117	Behçet disease			1
HP:0002795	HP:0002099	Asthma	1	C4B CL E G H	721	1324	OMIM:614379	Complement component 4B deficiency			1
HP:0002795	HP:0002093	Respiratory insufficiency	1	C9ORF72 CL E G H	203228	28337	ORPHA:803	Amyotrophic lateral sclerosis			56
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	C9ORF72 CL E G H	203228	28337	ORPHA:803	Amyotrophic lateral sclerosis			56
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis			29
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis			29
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	CA5A CL E G H	763	1377	OMIM:615751	Hyperammonemia due to carbonic anhydrase VA deficiency			10
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	CABP4 CL E G H	57010	1386	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy			94
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood			449
HP:0002795	HP:0002835	Aspiration	1	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional		449
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	CACNA1C CL E G H	775	1390	OMIM:620029				572
HP:0002795	HP:0030829	Abnormal breath sound	1	CACNA1C CL E G H	775	1390	OMIM:620029				572
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	CACNA1C CL E G H	775	1390	OMIM:620029				572
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	CACNA1D CL E G H	776	1391	OMIM:615474	Primary aldosteronism, seizures, and neurologic abnormalities			51
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	CACNA1D CL E G H	776	1391	ORPHA:369929	Primary hyperaldosteronism-seizures-neurological abnormalities syndrome			51
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	CACNA1H CL E G H	8912	1395	ORPHA:64280	Childhood absence epilepsy			75
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	CACNA1S CL E G H	779	1397	ORPHA:681	Hypokalemic periodic paralysis			247
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	CACNA1S CL E G H	779	1397	ORPHA:423	Malignant hyperthermia of anesthesia			247
HP:0002795	HP:0012415	Abnormal blood gas level	1	CACNA1S CL E G H	779	1397	ORPHA:423	Malignant hyperthermia of anesthesia			247
HP:0002795	HP:0012415	Abnormal blood gas level	1	CACNA1S CL E G H	779	1397	OMIM:601887	Malignant hyperthermia, susceptibility to, 5			247
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	CACNA1S CL E G H	779	1397	ORPHA:79102	Thyrotoxic periodic paralysis			247
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0002795	HP:0002093	Respiratory insufficiency	1	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1			85
HP:0002795	HP:0002099	Asthma	1	CARD10 CL E G H	29775	16422	OMIM:619632	IMMUNODEFICIENCY 89 AND AUTOIMMUNITY; IMD89			5
HP:0002795	HP:0002099	Asthma	1	CARD11 CL E G H	84433	16393	OMIM:617638	Immunodeficiency 11B with atopic dermatitis	.		45
HP:0002795	HP:0002099	Asthma	1	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58			3
HP:0002795	HP:0006536	Airway obstruction	1	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58			3
HP:0002795	HP:0025427	Abnormal bronchus physiology	1	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia			118
HP:0002795	HP:0002099	Asthma	1	CASP8 CL E G H	841	1509	OMIM:607271	CASPASE 8 DEFICIENCY			37
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	CASR CL E G H	846	1514	ORPHA:428	Autosomal dominant hypocalcemia	HP:0040282 - Frequent		272
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	CASR CL E G H	846	1514	OMIM:239200	Hyperparathyroidism, neonatal severe			272
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	CAV1 CL E G H	857	1527	ORPHA:220393	Diffuse cutaneous systemic sclerosis			11
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	CAV1 CL E G H	857	1527	ORPHA:220393	Diffuse cutaneous systemic sclerosis			11
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	CAV1 CL E G H	857	1527	ORPHA:220402	Limited cutaneous systemic sclerosis			11
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7			11
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	CAV1 CL E G H	857	1527	OMIM:615343	Pulmonary hypertension, primary, 3			11
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	CAV1 CL E G H	857	1527	OMIM:615343	Pulmonary hypertension, primary, 3			11
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	CBS CL E G H	875	1550	ORPHA:394	Classic homocystinuria			242
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	CBY1 CL E G H	25776	1307	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		1
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	CC2D2A CL E G H	57545	29253	OMIM:619111	COACH SYNDROME 2; COACH2			247
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	CC2D2A CL E G H	57545	29253	OMIM:612285	Joubert syndrome 9			247
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040281 - Very frequent		247
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	CC2D2A CL E G H	57545	29253	ORPHA:2318	Joubert syndrome with oculorenal defect			247
HP:0002795	HP:0002093	Respiratory insufficiency	1	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome	HP:0040283 - Occasional		147
HP:0002795	HP:0012261	Abnormal respiratory motile cilium physiology	1	CCDC103 CL E G H	388389	32700	OMIM:614679	Ciliary dyskinesia, primary, 17			36
HP:0002795	HP:0012735	Cough	1	CCDC103 CL E G H	388389	32700	OMIM:614679	Ciliary dyskinesia, primary, 17	.		36
HP:0002795	HP:0002093	Respiratory insufficiency	1	CCDC103 CL E G H	388389	32700	ORPHA:244	Primary ciliary dyskinesia			36
HP:0002795	HP:0006536	Airway obstruction	1	CCDC103 CL E G H	388389	32700	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		36
HP:0002795	HP:0012735	Cough	1	CCDC103 CL E G H	388389	32700	ORPHA:244	Primary ciliary dyskinesia			36
HP:0002795	HP:0030829	Abnormal breath sound	1	CCDC103 CL E G H	388389	32700	ORPHA:244	Primary ciliary dyskinesia			36
HP:0002795	HP:0002093	Respiratory insufficiency	1	CCDC174 CL E G H	51244	28033	OMIM:616816	Hypotonia, infantile, with psychomotor retardation			1
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	CCDC174 CL E G H	51244	28033	OMIM:616816	Hypotonia, infantile, with psychomotor retardation			1
HP:0002795	HP:0002099	Asthma	1	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1	.		4
HP:0002795	HP:0002093	Respiratory insufficiency	1	CCDC39 CL E G H	339829	25244	OMIM:613807	Ciliary dyskinesia, primary, 14			126
HP:0002795	HP:0012261	Abnormal respiratory motile cilium physiology	1	CCDC39 CL E G H	339829	25244	OMIM:613807	Ciliary dyskinesia, primary, 14			126
HP:0002795	HP:0012735	Cough	1	CCDC39 CL E G H	339829	25244	OMIM:613807	Ciliary dyskinesia, primary, 14			126
HP:0002795	HP:0030829	Abnormal breath sound	1	CCDC39 CL E G H	339829	25244	OMIM:613807	Ciliary dyskinesia, primary, 14			126
HP:0002795	HP:0031416	Abnormal nasal mucus secretion	1	CCDC39 CL E G H	339829	25244	OMIM:613807	Ciliary dyskinesia, primary, 14			126
HP:0002795	HP:0002093	Respiratory insufficiency	1	CCDC39 CL E G H	339829	25244	ORPHA:244	Primary ciliary dyskinesia			126
HP:0002795	HP:0006536	Airway obstruction	1	CCDC39 CL E G H	339829	25244	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		126
HP:0002795	HP:0012735	Cough	1	CCDC39 CL E G H	339829	25244	ORPHA:244	Primary ciliary dyskinesia			126
HP:0002795	HP:0030829	Abnormal breath sound	1	CCDC39 CL E G H	339829	25244	ORPHA:244	Primary ciliary dyskinesia			126
HP:0002795	HP:0002093	Respiratory insufficiency	1	CCDC40 CL E G H	55036	26090	OMIM:613808	CILIARY DYSKINESIA, PRIMARY, 15; CILD15			182
HP:0002795	HP:0012261	Abnormal respiratory motile cilium physiology	1	CCDC40 CL E G H	55036	26090	OMIM:613808	CILIARY DYSKINESIA, PRIMARY, 15; CILD15			182
HP:0002795	HP:0012735	Cough	1	CCDC40 CL E G H	55036	26090	OMIM:613808	CILIARY DYSKINESIA, PRIMARY, 15; CILD15			182
HP:0002795	HP:0030829	Abnormal breath sound	1	CCDC40 CL E G H	55036	26090	OMIM:613808	CILIARY DYSKINESIA, PRIMARY, 15; CILD15			182
HP:0002795	HP:0031416	Abnormal nasal mucus secretion	1	CCDC40 CL E G H	55036	26090	OMIM:613808	CILIARY DYSKINESIA, PRIMARY, 15; CILD15			182
HP:0002795	HP:0002093	Respiratory insufficiency	1	CCDC40 CL E G H	55036	26090	ORPHA:244	Primary ciliary dyskinesia			182
HP:0002795	HP:0006536	Airway obstruction	1	CCDC40 CL E G H	55036	26090	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		182
HP:0002795	HP:0012735	Cough	1	CCDC40 CL E G H	55036	26090	ORPHA:244	Primary ciliary dyskinesia			182
HP:0002795	HP:0030829	Abnormal breath sound	1	CCDC40 CL E G H	55036	26090	ORPHA:244	Primary ciliary dyskinesia			182
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome
HP:0002795	HP:0033036	Decreased nasal nitric oxide	1	CCDC65 CL E G H	85478	29937	OMIM:615504	Ciliary dyskinesia, primary, 27			23
HP:0002795	HP:0002093	Respiratory insufficiency	1	CCDC65 CL E G H	85478	29937	OMIM:615504	Ciliary dyskinesia, primary, 27			23
HP:0002795	HP:0012261	Abnormal respiratory motile cilium physiology	1	CCDC65 CL E G H	85478	29937	OMIM:615504	Ciliary dyskinesia, primary, 27			23
HP:0002795	HP:0002093	Respiratory insufficiency	1	CCDC65 CL E G H	85478	29937	ORPHA:244	Primary ciliary dyskinesia			23
HP:0002795	HP:0006536	Airway obstruction	1	CCDC65 CL E G H	85478	29937	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		23
HP:0002795	HP:0012735	Cough	1	CCDC65 CL E G H	85478	29937	ORPHA:244	Primary ciliary dyskinesia			23
HP:0002795	HP:0030829	Abnormal breath sound	1	CCDC65 CL E G H	85478	29937	ORPHA:244	Primary ciliary dyskinesia			23
HP:0002795	HP:0032933	Airway hyperresponsiveness	1	CCL11 CL E G H	6356	10610	OMIM:600807	Asthma, susceptibility to			2
HP:0002795	HP:0002099	Asthma	1	CCL11 CL E G H	6356	10610	OMIM:600807	Asthma, susceptibility to	.		2
HP:0002795	HP:0025427	Abnormal bronchus physiology	1	CCL11 CL E G H	6356	10610	OMIM:600807	Asthma, susceptibility to			2
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	CCN2 CL E G H	1490	2500	ORPHA:220393	Diffuse cutaneous systemic sclerosis
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	CCN2 CL E G H	1490	2500	ORPHA:220393	Diffuse cutaneous systemic sclerosis
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	CCN2 CL E G H	1490	2500	ORPHA:220402	Limited cutaneous systemic sclerosis
HP:0002795	HP:0002093	Respiratory insufficiency	1	CCNF CL E G H	899	1591	ORPHA:803	Amyotrophic lateral sclerosis
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	CCNF CL E G H	899	1591	ORPHA:803	Amyotrophic lateral sclerosis
HP:0002795	HP:0033036	Decreased nasal nitric oxide	1	CCNO CL E G H	10309	18576	OMIM:615872	Ciliary dyskinesia, primary, 29			23
HP:0002795	HP:0012261	Abnormal respiratory motile cilium physiology	1	CCNO CL E G H	10309	18576	OMIM:615872	Ciliary dyskinesia, primary, 29			23
HP:0002795	HP:0002093	Respiratory insufficiency	1	CCNO CL E G H	10309	18576	ORPHA:244	Primary ciliary dyskinesia			23
HP:0002795	HP:0006536	Airway obstruction	1	CCNO CL E G H	10309	18576	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		23
HP:0002795	HP:0012735	Cough	1	CCNO CL E G H	10309	18576	ORPHA:244	Primary ciliary dyskinesia			23
HP:0002795	HP:0030829	Abnormal breath sound	1	CCNO CL E G H	10309	18576	ORPHA:244	Primary ciliary dyskinesia			23
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	CCR6 CL E G H	1235	1607	ORPHA:220393	Diffuse cutaneous systemic sclerosis
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	CCR6 CL E G H	1235	1607	ORPHA:220393	Diffuse cutaneous systemic sclerosis
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	CCR6 CL E G H	1235	1607	ORPHA:220402	Limited cutaneous systemic sclerosis
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	CD19 CL E G H	930	1633	ORPHA:1572	Common variable immunodeficiency			38
HP:0002795	HP:0012415	Abnormal blood gas level	1	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM			33
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	CD55 CL E G H	1604	2665	OMIM:226300	Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy			9
HP:0002795	HP:0012735	Cough	1	CD79A CL E G H	973	1698	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040281 - Very frequent		9
HP:0002795	HP:0012735	Cough	1	CD79B CL E G H	974	1699	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040281 - Very frequent		6
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	CD81 CL E G H	975	1701	ORPHA:1572	Common variable immunodeficiency			1
HP:0002795	HP:0002099	Asthma	1	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0002795	HP:0002093	Respiratory insufficiency	1	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome			9
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome			9
HP:0002795	HP:0002093	Respiratory insufficiency	1	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome			31
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome			31
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder			8
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	CDKL5 CL E G H	6792	11411	ORPHA:3095	Atypical Rett syndrome	HP:0040281 - Very frequent		405
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	CDKL5 CL E G H	6792	11411	OMIM:300672	Developmental and epileptic encephalopathy 2			405
HP:0002795	HP:0002099	Asthma	1	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional		114
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		200
HP:0002795	HP:0006528	Chronic lung disease	1	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		200
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		200
HP:0002795	HP:0006528	Chronic lung disease	1	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		200
HP:0002795	HP:0002099	Asthma	1	CDON CL E G H	50937	17104	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		200
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		200
HP:0002795	HP:0006528	Chronic lung disease	1	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		200
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		200
HP:0002795	HP:0006528	Chronic lung disease	1	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		200
HP:0002795	HP:0002099	Asthma	1	CDSN CL E G H	1041	1802	OMIM:270300	Peeling skin syndrome 1	.		7
HP:0002795	HP:0002093	Respiratory insufficiency	1	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome			50
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome			50
HP:0002795	HP:0002099	Asthma	1	CEACAM3 CL E G H	1084	1815	ORPHA:586	Cystic fibrosis
HP:0002795	HP:0006536	Airway obstruction	1	CEACAM3 CL E G H	1084	1815	ORPHA:586	Cystic fibrosis
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	CEACAM3 CL E G H	1084	1815	ORPHA:586	Cystic fibrosis
HP:0002795	HP:0002099	Asthma	1	CEACAM6 CL E G H	4680	1818	ORPHA:586	Cystic fibrosis			1
HP:0002795	HP:0006536	Airway obstruction	1	CEACAM6 CL E G H	4680	1818	ORPHA:586	Cystic fibrosis			1
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	CEACAM6 CL E G H	4680	1818	ORPHA:586	Cystic fibrosis			1
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	CEP104 CL E G H	9731	24866	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		5
HP:0002795	HP:0002093	Respiratory insufficiency	1	CEP120 CL E G H	153241	26690	ORPHA:474	Jeune syndrome	HP:0040282 - Frequent		7
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	CEP120 CL E G H	153241	26690	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		7
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	CEP120 CL E G H	153241	26690	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040281 - Very frequent		7
HP:0002795	HP:0002093	Respiratory insufficiency	1	CEP120 CL E G H	153241	26690	OMIM:616300	Short-Rib thoracic dysplasia 13 with or without polydactyly	.		7
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	CEP290 CL E G H	80184	29021	OMIM:610188	Joubert syndrome 5			342
HP:0002795	HP:0005957	Breathing dysregulation	1	CEP290 CL E G H	80184	29021	OMIM:610188	Joubert syndrome 5			342
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	CEP290 CL E G H	80184	29021	ORPHA:2318	Joubert syndrome with oculorenal defect			342
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	CEP41 CL E G H	95681	12370	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		90
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	CEP41 CL E G H	95681	12370	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040281 - Very frequent		90
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome			17
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2			17
HP:0002795	HP:0002093	Respiratory insufficiency	1	CFAP221 CL E G H	200373	33720	ORPHA:244	Primary ciliary dyskinesia
HP:0002795	HP:0006536	Airway obstruction	1	CFAP221 CL E G H	200373	33720	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0002795	HP:0012735	Cough	1	CFAP221 CL E G H	200373	33720	ORPHA:244	Primary ciliary dyskinesia
HP:0002795	HP:0030829	Abnormal breath sound	1	CFAP221 CL E G H	200373	33720	ORPHA:244	Primary ciliary dyskinesia
HP:0002795	HP:0033036	Decreased nasal nitric oxide	1	CFAP298 CL E G H	56683	1301	OMIM:615500	Ciliary dyskinesia, primary, 26
HP:0002795	HP:0002093	Respiratory insufficiency	1	CFAP298 CL E G H	56683	1301	OMIM:615500	Ciliary dyskinesia, primary, 26
HP:0002795	HP:0012261	Abnormal respiratory motile cilium physiology	1	CFAP298 CL E G H	56683	1301	OMIM:615500	Ciliary dyskinesia, primary, 26
HP:0002795	HP:0002093	Respiratory insufficiency	1	CFAP298 CL E G H	56683	1301	ORPHA:244	Primary ciliary dyskinesia
HP:0002795	HP:0006536	Airway obstruction	1	CFAP298 CL E G H	56683	1301	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0002795	HP:0012735	Cough	1	CFAP298 CL E G H	56683	1301	ORPHA:244	Primary ciliary dyskinesia
HP:0002795	HP:0030829	Abnormal breath sound	1	CFAP298 CL E G H	56683	1301	ORPHA:244	Primary ciliary dyskinesia
HP:0002795	HP:0002093	Respiratory insufficiency	1	CFAP300 CL E G H	85016	28188	OMIM:618063	Ciliary dyskinesia, primary, 38
HP:0002795	HP:0012735	Cough	1	CFAP300 CL E G H	85016	28188	OMIM:618063	Ciliary dyskinesia, primary, 38	.
HP:0002795	HP:0002093	Respiratory insufficiency	1	CFAP300 CL E G H	85016	28188	ORPHA:244	Primary ciliary dyskinesia
HP:0002795	HP:0006536	Airway obstruction	1	CFAP300 CL E G H	85016	28188	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0002795	HP:0012735	Cough	1	CFAP300 CL E G H	85016	28188	ORPHA:244	Primary ciliary dyskinesia
HP:0002795	HP:0030829	Abnormal breath sound	1	CFAP300 CL E G H	85016	28188	ORPHA:244	Primary ciliary dyskinesia
HP:0002795	HP:0002093	Respiratory insufficiency	1	CFAP410 CL E G H	755	1260	ORPHA:803	Amyotrophic lateral sclerosis
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	CFAP410 CL E G H	755	1260	ORPHA:803	Amyotrophic lateral sclerosis
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	CFAP410 CL E G H	755	1260	OMIM:602271	Spondylometaphyseal dysplasia, axial
HP:0002795	HP:0033036	Decreased nasal nitric oxide	1	CFAP52 CL E G H	146845	16053	OMIM:619607	HETEROTAXY, VISCERAL, 10, AUTOSOMAL, WITH MALE INFERTILITY; HTX10
HP:0002795	HP:0012735	Cough	1	CFAP52 CL E G H	146845	16053	OMIM:619607	HETEROTAXY, VISCERAL, 10, AUTOSOMAL, WITH MALE INFERTILITY; HTX10
HP:0002795	HP:0002093	Respiratory insufficiency	1	CFL2 CL E G H	1073	1875	OMIM:610687	Nemaline myopathy 7			35
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	CFL2 CL E G H	1073	1875	OMIM:610687	Nemaline myopathy 7			35
HP:0002795	HP:0002093	Respiratory insufficiency	1	CFL2 CL E G H	1073	1875	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent		35
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	CFL2 CL E G H	1073	1875	ORPHA:171436	Typical nemaline myopathy			35
HP:0002795	HP:0002099	Asthma	1	CFTR CL E G H	1080	1884	ORPHA:586	Cystic fibrosis			1371
HP:0002795	HP:0002099	Asthma	1	CFTR CL E G H	1080	1884	OMIM:219700	Cystic fibrosis	.		1371
HP:0002795	HP:0006528	Chronic lung disease	1	CFTR CL E G H	1080	1884	OMIM:219700	Cystic fibrosis	.		1371
HP:0002795	HP:0006536	Airway obstruction	1	CFTR CL E G H	1080	1884	ORPHA:586	Cystic fibrosis			1371
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	CFTR CL E G H	1080	1884	ORPHA:586	Cystic fibrosis			1371
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	CFTR CL E G H	1080	1884	OMIM:219700	Cystic fibrosis			1371
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	CFTR CL E G H	1080	1884	ORPHA:60033	Idiopathic bronchiectasis			1371
HP:0002795	HP:0006536	Airway obstruction	1	CFTR CL E G H	1080	1884	ORPHA:60033	Idiopathic bronchiectasis			1371
HP:0002795	HP:0012735	Cough	1	CFTR CL E G H	1080	1884	ORPHA:60033	Idiopathic bronchiectasis			1371
HP:0002795	HP:0030829	Abnormal breath sound	1	CFTR CL E G H	1080	1884	ORPHA:60033	Idiopathic bronchiectasis			1371
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	CFTR CL E G H	1080	1884	ORPHA:60033	Idiopathic bronchiectasis			1371
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40			16
HP:0002795	HP:0002093	Respiratory insufficiency	1	CHAT CL E G H	1103	1912	OMIM:254210	Myasthenic syndrome, congenital, 6, presynaptic			65
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	CHAT CL E G H	1103	1912	OMIM:254210	Myasthenic syndrome, congenital, 6, presynaptic			65
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	CHAT CL E G H	1103	1912	OMIM:254210	Myasthenic syndrome, congenital, 6, presynaptic			65
HP:0002795	HP:0002093	Respiratory insufficiency	1	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes			65
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes			65
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes			65
HP:0002795	HP:0030829	Abnormal breath sound	1	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes			65
HP:0002795	HP:0002093	Respiratory insufficiency	1	CHCHD10 CL E G H	400916	15559	ORPHA:803	Amyotrophic lateral sclerosis			11
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	CHCHD10 CL E G H	400916	15559	ORPHA:803	Amyotrophic lateral sclerosis			11
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	CHCHD10 CL E G H	400916	15559	ORPHA:457050	Autosomal dominant mitochondrial myopathy with exercise intolerance			11
HP:0002795	HP:0002093	Respiratory insufficiency	1	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040283 - Occasional		515
HP:0002795	HP:0002093	Respiratory insufficiency	1	CHMP2B CL E G H	25978	24537	ORPHA:803	Amyotrophic lateral sclerosis			42
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	CHMP2B CL E G H	25978	24537	ORPHA:803	Amyotrophic lateral sclerosis			42
HP:0002795	HP:0002093	Respiratory insufficiency	1	CHRNA1 CL E G H	1134	1955	OMIM:601462	Myasthenic syndrome, congenital, 1A, slow-channel			74
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	CHRNA1 CL E G H	1134	1955	OMIM:601462	Myasthenic syndrome, congenital, 1A, slow-channel			74
HP:0002795	HP:0002093	Respiratory insufficiency	1	CHRNA1 CL E G H	1134	1955	OMIM:608930	Myasthenic syndrome, congenital, 1B, fast-channel			74
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	CHRNA1 CL E G H	1134	1955	OMIM:608930	Myasthenic syndrome, congenital, 1B, fast-channel			74
HP:0002795	HP:0002093	Respiratory insufficiency	1	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			74
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			74
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			74
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	CHRNA2 CL E G H	1135	1956	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy			188
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	CHRNA4 CL E G H	1137	1958	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy			225
HP:0002795	HP:0002093	Respiratory insufficiency	1	CHRNB1 CL E G H	1140	1961	OMIM:616314	Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency	.		53
HP:0002795	HP:0002093	Respiratory insufficiency	1	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			53
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			53
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			53
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	CHRNB2 CL E G H	1141	1962	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy			88
HP:0002795	HP:0002093	Respiratory insufficiency	1	CHRND CL E G H	1144	1965	OMIM:616321	Myasthenic syndrome, congenital, 3A, slow-channel	.		88
HP:0002795	HP:0002093	Respiratory insufficiency	1	CHRND CL E G H	1144	1965	OMIM:616322	Myasthenic syndrome, congenital, 3B, fast-channel	.		88
HP:0002795	HP:0002093	Respiratory insufficiency	1	CHRND CL E G H	1144	1965	OMIM:616323	Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency	.		88
HP:0002795	HP:0002093	Respiratory insufficiency	1	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			88
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			88
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			88
HP:0002795	HP:0002093	Respiratory insufficiency	1	CHRNE CL E G H	1145	1966	OMIM:605809	Myasthenic syndrome, congenital, 4A, slow-channel			139
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	CHRNE CL E G H	1145	1966	OMIM:605809	Myasthenic syndrome, congenital, 4A, slow-channel			139
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	CHRNE CL E G H	1145	1966	OMIM:605809	Myasthenic syndrome, congenital, 4A, slow-channel			139
HP:0002795	HP:0002093	Respiratory insufficiency	1	CHRNE CL E G H	1145	1966	OMIM:616324	Myasthenic syndrome, congenital, 4B, fast-channel	.		139
HP:0002795	HP:0002093	Respiratory insufficiency	1	CHRNE CL E G H	1145	1966	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency			139
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	CHRNE CL E G H	1145	1966	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency			139
HP:0002795	HP:0002093	Respiratory insufficiency	1	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			139
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			139
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			139
HP:0002795	HP:0002093	Respiratory insufficiency	1	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome			68
HP:0002795	HP:0002093	Respiratory insufficiency	1	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant			68
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations			165
HP:0002795	HP:0002093	Respiratory insufficiency	1	CISD2 CL E G H	493856	24212	ORPHA:3463	Wolfram syndrome	HP:0040283 - Occasional		3
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	CISD2 CL E G H	493856	24212	ORPHA:3463	Wolfram syndrome			3
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	CITED2 CL E G H	10370	1987	ORPHA:99103	Atrial septal defect, ostium secundum type			5
HP:0002795	HP:0005957	Breathing dysregulation	1	CITED2 CL E G H	10370	1987	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional		5
HP:0002795	HP:0006536	Airway obstruction	1	CITED2 CL E G H	10370	1987	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040284 - Very rare		5
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	CITED2 CL E G H	10370	1987	ORPHA:99103	Atrial septal defect, ostium secundum type			5
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	CITED2 CL E G H	10370	1987	ORPHA:99105	Atrial septal defect, sinus venosus type			5
HP:0002795	HP:0006536	Airway obstruction	1	CITED2 CL E G H	10370	1987	ORPHA:99105	Atrial septal defect, sinus venosus type	HP:0040284 - Very rare		5
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	CITED2 CL E G H	10370	1987	ORPHA:99105	Atrial septal defect, sinus venosus type			5
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	CIZ1 CL E G H	25792	16744	ORPHA:420492	Adult-onset cervical dystonia, DYT23 type			16
HP:0002795	HP:0002099	Asthma	1	CLCA4 CL E G H	22802	2018	ORPHA:586	Cystic fibrosis
HP:0002795	HP:0006536	Airway obstruction	1	CLCA4 CL E G H	22802	2018	ORPHA:586	Cystic fibrosis
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	CLCA4 CL E G H	22802	2018	ORPHA:586	Cystic fibrosis
HP:0002795	HP:0002093	Respiratory insufficiency	1	CLCF1 CL E G H	23529	17412	ORPHA:1545	Crisponi syndrome	HP:0040281 - Very frequent		6
HP:0002795	HP:0002093	Respiratory insufficiency	1	CLCN6 CL E G H	1185	2024	OMIM:619173	NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis			102
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis			102
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome			27
HP:0002795	HP:0012735	Cough	1	CLEC7A CL E G H	64581	14558	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040283 - Occasional		3
HP:0002795	HP:0002093	Respiratory insufficiency	1	CLPB CL E G H	81570	30664	ORPHA:445038	3-methylglutaconic aciduria type 7			38
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia			38
HP:0002795	HP:0012415	Abnormal blood gas level	1	CNOT1 CL E G H	23019	7877	ORPHA:556955	Pancreatic agenesis-holoprosencephaly syndrome			2
HP:0002795	HP:0002093	Respiratory insufficiency	1	CNTN1 CL E G H	1272	2171	OMIM:612540	Myopathy, congenital, compton-north			40
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	CNTN1 CL E G H	1272	2171	OMIM:612540	Myopathy, congenital, compton-north			40
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	CNTNAP1 CL E G H	8506	8011	ORPHA:2680	Hypomyelination neuropathy-arthrogryposis syndrome			9
HP:0002795	HP:0002093	Respiratory insufficiency	1	CNTNAP1 CL E G H	8506	8011	OMIM:618186	Neuropathy, congenital hypomyelinating, 3	.	HP:0003623 - Neonatal onset	9
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy			518
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	CNTNAP2 CL E G H	26047	13830	OMIM:610042	Pitt-Hopkins-Like syndrome 1			518
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	COA6 CL E G H	388753	18025	OMIM:616501	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 4; CEMCOX4			8
HP:0002795	HP:0002093	Respiratory insufficiency	1	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG			52
HP:0002795	HP:0002093	Respiratory insufficiency	1	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe	.		64
HP:0002795	HP:0006536	Airway obstruction	1	COL11A1 CL E G H	1301	2186	ORPHA:440354	Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome			215
HP:0002795	HP:0002093	Respiratory insufficiency	1	COL11A1 CL E G H	1301	2186	ORPHA:2021	Fibrochondrogenesis	HP:0040282 - Frequent		215
HP:0002795	HP:0002093	Respiratory insufficiency	1	COL11A2 CL E G H	1302	2187	ORPHA:2021	Fibrochondrogenesis	HP:0040282 - Frequent		222
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy			65
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy			65
HP:0002795	HP:0002093	Respiratory insufficiency	1	COL12A1 CL E G H	1303	2188	ORPHA:75840	Congenital muscular dystrophy, Ullrich type			65
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	COL12A1 CL E G H	1303	2188	OMIM:616470	ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2; UCMD2			65
HP:0002795	HP:0002093	Respiratory insufficiency	1	COL13A1 CL E G H	1305	2190	OMIM:616720	Myasthenic syndrome, congenital, 19	.		6
HP:0002795	HP:0002093	Respiratory insufficiency	1	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			6
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			6
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			6
HP:0002795	HP:0002093	Respiratory insufficiency	1	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes			6
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes			6
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes			6
HP:0002795	HP:0030829	Abnormal breath sound	1	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes			6
HP:0002795	HP:0002093	Respiratory insufficiency	1	COL1A1 CL E G H	1277	2197	ORPHA:1310	Caffey disease	HP:0040283 - Occasional		373
HP:0002795	HP:0002093	Respiratory insufficiency	1	COL1A1 CL E G H	1277	2197	OMIM:166210	Osteogenesis imperfecta, type IIA	.		373
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	COL1A1 CL E G H	1277	2197	OMIM:259420	Osteogenesis imperfecta, type III			373
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome			243
HP:0002795	HP:0002093	Respiratory insufficiency	1	COL1A2 CL E G H	1278	2198	OMIM:166210	Osteogenesis imperfecta, type IIA	.		243
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	COL1A2 CL E G H	1278	2198	OMIM:259420	Osteogenesis imperfecta, type III			243
HP:0002795	HP:0002093	Respiratory insufficiency	1	COL25A1 CL E G H	84570	18603	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita			3
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	COL25A1 CL E G H	84570	18603	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita			3
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	COL25A1 CL E G H	84570	18603	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita			3
HP:0002795	HP:0002093	Respiratory insufficiency	1	COL2A1 CL E G H	1280	2200	ORPHA:93296	Achondrogenesis type 2			284
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia			284
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type			284
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	COL2A1 CL E G H	1280	2200	OMIM:183900	Spondyloepiphyseal dysplasia congenita			284
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	COL2A1 CL E G H	1280	2200	OMIM:183900	Spondyloepiphyseal dysplasia congenita			284
HP:0002795	HP:0002093	Respiratory insufficiency	1	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040282 - Frequent		749
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome			749
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	COL4A5 CL E G H	1287	2207	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis			678
HP:0002795	HP:0012735	Cough	1	COL4A5 CL E G H	1287	2207	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis	HP:0040283 - Occasional		678
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	COL4A6 CL E G H	1288	2208	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis			18
HP:0002795	HP:0012735	Cough	1	COL4A6 CL E G H	1288	2208	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis	HP:0040283 - Occasional		18
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy			442
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy			442
HP:0002795	HP:0002093	Respiratory insufficiency	1	COL6A1 CL E G H	1291	2211	OMIM:158810	Bethlem myopathy 1			442
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	COL6A1 CL E G H	1291	2211	OMIM:158810	Bethlem myopathy 1			442
HP:0002795	HP:0002093	Respiratory insufficiency	1	COL6A1 CL E G H	1291	2211	ORPHA:75840	Congenital muscular dystrophy, Ullrich type			442
HP:0002795	HP:0002093	Respiratory insufficiency	1	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1	.		442
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1			442
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1			442
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy			478
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy			478
HP:0002795	HP:0002093	Respiratory insufficiency	1	COL6A2 CL E G H	1292	2212	OMIM:158810	Bethlem myopathy 1			478
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	COL6A2 CL E G H	1292	2212	OMIM:158810	Bethlem myopathy 1			478
HP:0002795	HP:0002093	Respiratory insufficiency	1	COL6A2 CL E G H	1292	2212	ORPHA:75840	Congenital muscular dystrophy, Ullrich type			478
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	COL6A2 CL E G H	1292	2212	OMIM:255600	Myosclerosis, autosomal recessive			478
HP:0002795	HP:0002093	Respiratory insufficiency	1	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1	.		478
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1			478
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1			478
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy			702
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy			702
HP:0002795	HP:0002093	Respiratory insufficiency	1	COL6A3 CL E G H	1293	2213	OMIM:158810	Bethlem myopathy 1			702
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	COL6A3 CL E G H	1293	2213	OMIM:158810	Bethlem myopathy 1			702
HP:0002795	HP:0002093	Respiratory insufficiency	1	COL6A3 CL E G H	1293	2213	ORPHA:75840	Congenital muscular dystrophy, Ullrich type			702
HP:0002795	HP:0002093	Respiratory insufficiency	1	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1	.		702
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1			702
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1			702
HP:0002795	HP:0002093	Respiratory insufficiency	1	COLQ CL E G H	8292	2226	OMIM:603034	Myasthenic syndrome, congenital, 5	.		90
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	COLQ CL E G H	8292	2226	OMIM:603034	Myasthenic syndrome, congenital, 5			90
HP:0002795	HP:0002093	Respiratory insufficiency	1	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040282 - Frequent		90
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes			90
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes			90
HP:0002795	HP:0002099	Asthma	1	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		6
HP:0002795	HP:0006536	Airway obstruction	1	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome			6
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	COPA CL E G H	1314	2230	OMIM:616414	AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE; AILJK			5
HP:0002795	HP:0012735	Cough	1	COPA CL E G H	1314	2230	OMIM:616414	AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE; AILJK			5
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	COPA CL E G H	1314	2230	OMIM:616414	AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE; AILJK			5
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	COQ2 CL E G H	27235	25223	ORPHA:227510	Multiple system atrophy, cerebellar type			54
HP:0002795	HP:0030829	Abnormal breath sound	1	COQ2 CL E G H	27235	25223	ORPHA:227510	Multiple system atrophy, cerebellar type			54
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	COQ2 CL E G H	27235	25223	ORPHA:98933	Multiple system atrophy, parkinsonian type			54
HP:0002795	HP:0030829	Abnormal breath sound	1	COQ2 CL E G H	27235	25223	ORPHA:98933	Multiple system atrophy, parkinsonian type			54
HP:0002795	HP:0002093	Respiratory insufficiency	1	COQ4 CL E G H	51117	19693	OMIM:616276	Coenzyme Q10 deficiency, primary, 7	.	HP:0003623 - Neonatal onset	24
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	COQ7 CL E G H	10229	2244	OMIM:616733	Coenzyme Q10 deficiency, primary, 8			1
HP:0002795	HP:0002093	Respiratory insufficiency	1	COQ9 CL E G H	57017	25302	OMIM:614654	Coenzyme Q10 deficiency, primary, 5	.		44
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	COX1 CL E G H	4512	7419	ORPHA:550	MELAS
HP:0002795	HP:0002093	Respiratory insufficiency	1	COX14 CL E G H	84987	28216	OMIM:619053	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10; MC4DN10			4
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	COX15 CL E G H	1355	2263	ORPHA:255241	Leigh syndrome with leukodystrophy			104
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	COX2 CL E G H	4513	7421	ORPHA:550	MELAS
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	COX3 CL E G H	4514	7422	ORPHA:550	MELAS
HP:0002795	HP:0002099	Asthma	1	COX4I2 CL E G H	84701	16232	OMIM:612714	Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarialhyperostosis	.		13
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	COX5A CL E G H	9377	2267	OMIM:619064	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0002795	HP:0002093	Respiratory insufficiency	1	COX6A2 CL E G H	1339	2279	OMIM:619062	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 18; MC4DN18
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	COX6B1 CL E G H	1340	2280	OMIM:619051	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN7			10
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	COX7B CL E G H	1349	2291	OMIM:300887	Linear skin defects with multiple congenital anomalies 2			6
HP:0002795	HP:0002093	Respiratory insufficiency	1	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome			6
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome			6
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	COX8A CL E G H	1351	2294	OMIM:619059	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15; MC4DN15			1
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	CPLANE1 CL E G H	65250	25801	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	CPLANE1 CL E G H	65250	25801	OMIM:614615	Joubert syndrome 17
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	CPLANE1 CL E G H	65250	25801	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	CPOX CL E G H	1371	2321	OMIM:121300	Coproporphyria			72
HP:0002795	HP:0002093	Respiratory insufficiency	1	CPOX CL E G H	1371	2321	ORPHA:79273	Hereditary coproporphyria	HP:0040283 - Occasional		72
HP:0002795	HP:0002093	Respiratory insufficiency	1	CPS1 CL E G H	1373	2323	ORPHA:147	Carbamoyl-phosphate synthetase 1 deficiency	HP:0040281 - Very frequent		124
HP:0002795	HP:0002093	Respiratory insufficiency	1	CPT2 CL E G H	1376	2330	ORPHA:228308	Carnitine palmitoyl transferase II deficiency, neonatal form			101
HP:0002795	HP:0002093	Respiratory insufficiency	1	CPT2 CL E G H	1376	2330	OMIM:600649	Carnitine palmitoyltransferase II deficiency, infantile			101
HP:0002795	HP:0002093	Respiratory insufficiency	1	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	.		101
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal			101
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	CR2 CL E G H	1380	2336	ORPHA:1572	Common variable immunodeficiency			10
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0002795	HP:0002099	Asthma	1	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	HP:0040284 - Very rare		291
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion			291
HP:0002795	HP:0002099	Asthma	1	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040284 - Very rare		291
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations			291
HP:0002795	HP:0002835	Aspiration	1	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040283 - Occasional		291
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	CRH CL E G H	1392	2355	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy			1
HP:0002795	HP:0002093	Respiratory insufficiency	1	CRLF1 CL E G H	9244	2364	ORPHA:1545	Crisponi syndrome	HP:0040281 - Very frequent		24
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	CRLF1 CL E G H	9244	2364	OMIM:272430	Crisponi/cold-induced sweating syndrome 1			24
HP:0002795	HP:0012735	Cough	1	CRLF1 CL E G H	9244	2364	ORPHA:930	Idiopathic achalasia	HP:0040282 - Frequent		24
HP:0002795	HP:0030829	Abnormal breath sound	1	CRLF1 CL E G H	9244	2364	ORPHA:930	Idiopathic achalasia			24
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	CRPPA CL E G H	729920	37276	ORPHA:352479	ISPD-related limb-girdle muscular dystrophy R20
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	CRPPA CL E G H	729920	37276	OMIM:616052	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7
HP:0002795	HP:0002093	Respiratory insufficiency	1	CRYAB CL E G H	1410	2389	ORPHA:399058	Alpha-B crystallin-related late-onset myopathy			46
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	CRYAB CL E G H	1410	2389	ORPHA:399058	Alpha-B crystallin-related late-onset myopathy			46
HP:0002795	HP:0002093	Respiratory insufficiency	1	CRYAB CL E G H	1410	2389	OMIM:608810	Myopathy, myofibrillar, 2, mfm2			46
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	CRYAB CL E G H	1410	2389	OMIM:608810	Myopathy, myofibrillar, 2, mfm2			46
HP:0002795	HP:0002093	Respiratory insufficiency	1	CRYAB CL E G H	1410	2389	OMIM:613869	Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related	.		46
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	CRYAB CL E G H	1410	2389	OMIM:613869	Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related			46
HP:0002795	HP:0002093	Respiratory insufficiency	1	CSF2RA CL E G H	1438	2435	ORPHA:264675	Hereditary pulmonary alveolar proteinosis			15
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	CSF2RA CL E G H	1438	2435	ORPHA:264675	Hereditary pulmonary alveolar proteinosis			15
HP:0002795	HP:0012415	Abnormal blood gas level	1	CSF2RA CL E G H	1438	2435	ORPHA:264675	Hereditary pulmonary alveolar proteinosis			15
HP:0002795	HP:0012735	Cough	1	CSF2RA CL E G H	1438	2435	ORPHA:264675	Hereditary pulmonary alveolar proteinosis	HP:0040283 - Occasional		15
HP:0002795	HP:0030829	Abnormal breath sound	1	CSF2RA CL E G H	1438	2435	ORPHA:264675	Hereditary pulmonary alveolar proteinosis			15
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	CSF2RA CL E G H	1438	2435	ORPHA:264675	Hereditary pulmonary alveolar proteinosis			15
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	CSF2RA CL E G H	1438	2435	OMIM:300770	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4; SMDP4			15
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	CSF2RA CL E G H	1438	2435	OMIM:300770	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4; SMDP4			15
HP:0002795	HP:0002093	Respiratory insufficiency	1	CSF2RB CL E G H	1439	2436	ORPHA:264675	Hereditary pulmonary alveolar proteinosis			17
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	CSF2RB CL E G H	1439	2436	ORPHA:264675	Hereditary pulmonary alveolar proteinosis			17
HP:0002795	HP:0012415	Abnormal blood gas level	1	CSF2RB CL E G H	1439	2436	ORPHA:264675	Hereditary pulmonary alveolar proteinosis			17
HP:0002795	HP:0012735	Cough	1	CSF2RB CL E G H	1439	2436	ORPHA:264675	Hereditary pulmonary alveolar proteinosis	HP:0040283 - Occasional		17
HP:0002795	HP:0030829	Abnormal breath sound	1	CSF2RB CL E G H	1439	2436	ORPHA:264675	Hereditary pulmonary alveolar proteinosis			17
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	CSF2RB CL E G H	1439	2436	ORPHA:264675	Hereditary pulmonary alveolar proteinosis			17
HP:0002795	HP:0002093	Respiratory insufficiency	1	CSF2RB CL E G H	1439	2436	OMIM:614370	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5; SMDP5			17
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	CSF2RB CL E G H	1439	2436	OMIM:614370	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5; SMDP5			17
HP:0002795	HP:0002093	Respiratory insufficiency	1	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	CSPP1 CL E G H	79848	26193	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		57
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	CSPP1 CL E G H	79848	26193	OMIM:615636	Joubert syndrome 21			57
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy			57
HP:0002795	HP:0006528	Chronic lung disease	1	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional		57
HP:0002795	HP:0006528	Chronic lung disease	1	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder	HP:0040283 - Occasional		20
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder			20
HP:0002795	HP:0002093	Respiratory insufficiency	1	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis	HP:0040282 - Frequent		10
HP:0002795	HP:0006536	Airway obstruction	1	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis			10
HP:0002795	HP:0012735	Cough	1	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis	HP:0040282 - Frequent		10
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis			10
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma			88
HP:0002795	HP:0002093	Respiratory insufficiency	1	CTSD CL E G H	1509	2529	OMIM:610127	Ceroid lipofuscinosis, neuronal, 10	.		159
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	CTSD CL E G H	1509	2529	OMIM:610127	Ceroid lipofuscinosis, neuronal, 10			159
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis	HP:0040283 - Occasional		39
HP:0002795	HP:0030829	Abnormal breath sound	1	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis			39
HP:0002795	HP:0002093	Respiratory insufficiency	1	CUL7 CL E G H	9820	21024	OMIM:273750	3-M syndrome 1			127
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	CYB5A CL E G H	1528	2570	ORPHA:621	Hereditary methemoglobinemia			2
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	CYB5R3 CL E G H	1727	2873	ORPHA:621	Hereditary methemoglobinemia			24
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	CYB5R3 CL E G H	1727	2873	OMIM:250800	Methemoglobinemia due to deficiency of methemoglobin reductase			24
HP:0002795	HP:0006536	Airway obstruction	1	CYBA CL E G H	1535	2577	ORPHA:379	Chronic granulomatous disease			27
HP:0002795	HP:0006536	Airway obstruction	1	CYBB CL E G H	1536	2578	ORPHA:379	Chronic granulomatous disease			111
HP:0002795	HP:0012735	Cough	1	CYBB CL E G H	1536	2578	OMIM:306400	Chronic granulomatous disease, X-linked			111
HP:0002795	HP:0006536	Airway obstruction	1	CYBC1 CL E G H	79415	28672	ORPHA:379	Chronic granulomatous disease
HP:0002795	HP:0002093	Respiratory insufficiency	1	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis	.		114
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	CYTB CL E G H	4519	7427	ORPHA:137675	Histiocytoid cardiomyopathy
HP:0002795	HP:0012735	Cough	1	CYTB CL E G H	4519	7427	ORPHA:137675	Histiocytoid cardiomyopathy	HP:0040283 - Occasional
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	D2HGDH CL E G H	728294	28358	OMIM:600721	D-2-Hydroxyglutaric aciduria 1			102
HP:0002795	HP:0030829	Abnormal breath sound	1	D2HGDH CL E G H	728294	28358	OMIM:600721	D-2-Hydroxyglutaric aciduria 1			102
HP:0002795	HP:0002093	Respiratory insufficiency	1	DAG1 CL E G H	1605	2666	OMIM:616538	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9			108
HP:0002795	HP:0002093	Respiratory insufficiency	1	DAO CL E G H	1610	2671	ORPHA:803	Amyotrophic lateral sclerosis
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	DAO CL E G H	1610	2671	ORPHA:803	Amyotrophic lateral sclerosis
HP:0002795	HP:0025427	Abnormal bronchus physiology	1	DAXX CL E G H	1616	2681	ORPHA:100075	Neuroendocrine tumor of stomach
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	DBH CL E G H	1621	2689	ORPHA:230	Dopamine beta-hydroxylase deficiency			80
HP:0002795	HP:0002093	Respiratory insufficiency	1	DCTN1 CL E G H	1639	2711	ORPHA:803	Amyotrophic lateral sclerosis			86
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	DCTN1 CL E G H	1639	2711	ORPHA:803	Amyotrophic lateral sclerosis			86
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	DCTN1 CL E G H	1639	2711	OMIM:105400	Amyotrophic lateral sclerosis 1			86
HP:0002795	HP:0002093	Respiratory insufficiency	1	DCTN1 CL E G H	1639	2711	OMIM:168605	Perry syndrome			86
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	DCTN1 CL E G H	1639	2711	ORPHA:178509	Perry syndrome			86
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	DCTN1 CL E G H	1639	2711	OMIM:168605	Perry syndrome			86
HP:0002795	HP:0002099	Asthma	1	DCTN4 CL E G H	51164	15518	ORPHA:586	Cystic fibrosis
HP:0002795	HP:0006536	Airway obstruction	1	DCTN4 CL E G H	51164	15518	ORPHA:586	Cystic fibrosis
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	DCTN4 CL E G H	51164	15518	ORPHA:586	Cystic fibrosis
HP:0002795	HP:0002835	Aspiration	1	DCX CL E G H	1641	2714	ORPHA:2148	Lissencephaly type 1 due to doublecortin gene mutation	HP:0040283 - Occasional		145
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0002795	HP:0002093	Respiratory insufficiency	1	DDC CL E G H	1644	2719	OMIM:608643	Aromatic L-amino acid decarboxylase deficiency			43
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	DDC CL E G H	1644	2719	OMIM:608643	Aromatic L-amino acid decarboxylase deficiency			43
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type			45
HP:0002795	HP:0006536	Airway obstruction	1	DDRGK1 CL E G H	65992	16110	ORPHA:93352	Spondyloepimetaphyseal dysplasia, Shohat type
HP:0002795	HP:0002099	Asthma	1	DDX41 CL E G H	51428	18674	OMIM:616871	Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to	.		23
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	DEPDC5 CL E G H	9681	18423	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy			172
HP:0002795	HP:0002093	Respiratory insufficiency	1	DES CL E G H	1674	2770	ORPHA:98909	Desminopathy			263
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	DES CL E G H	1674	2770	ORPHA:98909	Desminopathy			263
HP:0002795	HP:0002093	Respiratory insufficiency	1	DES CL E G H	1674	2770	OMIM:601419	Myopathy, myofibrillar, 1			263
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	DES CL E G H	1674	2770	OMIM:601419	Myopathy, myofibrillar, 1			263
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	DHX16 CL E G H	8449	2739	OMIM:618733	NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0002795	HP:0002835	Aspiration	1	DHX16 CL E G H	8449	2739	OMIM:618733	NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	DISC1 CL E G H	27185	2888	ORPHA:171703	Microcephaly-polymicrogyria-corpus callosum agenesis syndrome			2
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		22
HP:0002795	HP:0006528	Chronic lung disease	1	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		22
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		22
HP:0002795	HP:0006528	Chronic lung disease	1	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		22
HP:0002795	HP:0002099	Asthma	1	DISP1 CL E G H	84976	19711	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		22
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		22
HP:0002795	HP:0006528	Chronic lung disease	1	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		22
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		22
HP:0002795	HP:0006528	Chronic lung disease	1	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		22
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked			65
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I
HP:0002795	HP:0012735	Cough	1	DLEC1 CL E G H	9940	2899	ORPHA:99977	Squamous cell carcinoma of the esophagus	HP:0040282 - Frequent
HP:0002795	HP:0002093	Respiratory insufficiency	1	DLK1 CL E G H	8788	2907	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion			1
HP:0002795	HP:0002093	Respiratory insufficiency	1	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		3
HP:0002795	HP:0006528	Chronic lung disease	1	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		3
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		3
HP:0002795	HP:0006528	Chronic lung disease	1	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		3
HP:0002795	HP:0002099	Asthma	1	DLL1 CL E G H	28514	2908	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		3
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		3
HP:0002795	HP:0006528	Chronic lung disease	1	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		3
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		3
HP:0002795	HP:0006528	Chronic lung disease	1	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		3
HP:0002795	HP:0002093	Respiratory insufficiency	1	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040281 - Very frequent		45
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome			9
HP:0002795	HP:0002093	Respiratory insufficiency	1	DMD CL E G H	1756	2928	ORPHA:98896	Duchenne muscular dystrophy	HP:0040281 - Very frequent		1496
HP:0002795	HP:0002093	Respiratory insufficiency	1	DMD CL E G H	1756	2928	OMIM:310200	Duchenne muscular dystrophy	.		1496
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	DMD CL E G H	1756	2928	OMIM:310200	Duchenne muscular dystrophy			1496
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	DMD CL E G H	1756	2928	OMIM:310200	Duchenne muscular dystrophy			1496
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	DMD CL E G H	1756	2928	OMIM:310200	Duchenne muscular dystrophy			1496
HP:0002795	HP:0002093	Respiratory insufficiency	1	DMPK CL E G H	1760	2933	ORPHA:589821	Congenital-onset Steinert myotonic dystrophy			152
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	DMPK CL E G H	1760	2933	OMIM:160900	Myotonic dystrophy 1			152
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	DNA2 CL E G H	1763	2939	ORPHA:352470	DNA2-related mitochondrial DNA deletion syndrome			41
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	DNA2 CL E G H	1763	2939	OMIM:615156	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 6			41
HP:0002795	HP:0012261	Abnormal respiratory motile cilium physiology	1	DNAAF1 CL E G H	123872	30539	OMIM:613193	Ciliary dyskinesia, primary, 13			116
HP:0002795	HP:0002093	Respiratory insufficiency	1	DNAAF1 CL E G H	123872	30539	ORPHA:244	Primary ciliary dyskinesia			116
HP:0002795	HP:0006536	Airway obstruction	1	DNAAF1 CL E G H	123872	30539	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		116
HP:0002795	HP:0012735	Cough	1	DNAAF1 CL E G H	123872	30539	ORPHA:244	Primary ciliary dyskinesia			116
HP:0002795	HP:0030829	Abnormal breath sound	1	DNAAF1 CL E G H	123872	30539	ORPHA:244	Primary ciliary dyskinesia			116
HP:0002795	HP:0002093	Respiratory insufficiency	1	DNAAF11 CL E G H	23639	16725	OMIM:614935	Ciliary dyskinesia, primary, 19
HP:0002795	HP:0012261	Abnormal respiratory motile cilium physiology	1	DNAAF11 CL E G H	23639	16725	OMIM:614935	Ciliary dyskinesia, primary, 19
HP:0002795	HP:0002093	Respiratory insufficiency	1	DNAAF11 CL E G H	23639	16725	ORPHA:244	Primary ciliary dyskinesia
HP:0002795	HP:0006536	Airway obstruction	1	DNAAF11 CL E G H	23639	16725	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0002795	HP:0012735	Cough	1	DNAAF11 CL E G H	23639	16725	ORPHA:244	Primary ciliary dyskinesia
HP:0002795	HP:0030829	Abnormal breath sound	1	DNAAF11 CL E G H	23639	16725	ORPHA:244	Primary ciliary dyskinesia
HP:0002795	HP:0012261	Abnormal respiratory motile cilium physiology	1	DNAAF2 CL E G H	55172	20188	OMIM:612518	CILIARY DYSKINESIA, PRIMARY, 10; CILD10			78
HP:0002795	HP:0002093	Respiratory insufficiency	1	DNAAF2 CL E G H	55172	20188	ORPHA:244	Primary ciliary dyskinesia			78
HP:0002795	HP:0006536	Airway obstruction	1	DNAAF2 CL E G H	55172	20188	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		78
HP:0002795	HP:0012735	Cough	1	DNAAF2 CL E G H	55172	20188	ORPHA:244	Primary ciliary dyskinesia			78
HP:0002795	HP:0030829	Abnormal breath sound	1	DNAAF2 CL E G H	55172	20188	ORPHA:244	Primary ciliary dyskinesia			78
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	DNAAF3 CL E G H	352909	30492	OMIM:606763	Ciliary dyskinesia, primary, 2			63
HP:0002795	HP:0012261	Abnormal respiratory motile cilium physiology	1	DNAAF3 CL E G H	352909	30492	OMIM:606763	Ciliary dyskinesia, primary, 2			63
HP:0002795	HP:0002093	Respiratory insufficiency	1	DNAAF3 CL E G H	352909	30492	ORPHA:244	Primary ciliary dyskinesia			63
HP:0002795	HP:0006536	Airway obstruction	1	DNAAF3 CL E G H	352909	30492	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		63
HP:0002795	HP:0012735	Cough	1	DNAAF3 CL E G H	352909	30492	ORPHA:244	Primary ciliary dyskinesia			63
HP:0002795	HP:0030829	Abnormal breath sound	1	DNAAF3 CL E G H	352909	30492	ORPHA:244	Primary ciliary dyskinesia			63
HP:0002795	HP:0006536	Airway obstruction	1	DNAAF4 CL E G H	161582	21493	OMIM:615482	Ciliary dyskinesia, primary, 25			27
HP:0002795	HP:0012261	Abnormal respiratory motile cilium physiology	1	DNAAF4 CL E G H	161582	21493	OMIM:615482	Ciliary dyskinesia, primary, 25			27
HP:0002795	HP:0002093	Respiratory insufficiency	1	DNAAF4 CL E G H	161582	21493	ORPHA:244	Primary ciliary dyskinesia			27
HP:0002795	HP:0006536	Airway obstruction	1	DNAAF4 CL E G H	161582	21493	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		27
HP:0002795	HP:0012735	Cough	1	DNAAF4 CL E G H	161582	21493	ORPHA:244	Primary ciliary dyskinesia			27
HP:0002795	HP:0030829	Abnormal breath sound	1	DNAAF4 CL E G H	161582	21493	ORPHA:244	Primary ciliary dyskinesia			27
HP:0002795	HP:0002093	Respiratory insufficiency	1	DNAAF5 CL E G H	54919	26013	OMIM:614874	Ciliary dyskinesia, primary, 18	.		62
HP:0002795	HP:0012261	Abnormal respiratory motile cilium physiology	1	DNAAF5 CL E G H	54919	26013	OMIM:614874	Ciliary dyskinesia, primary, 18			62
HP:0002795	HP:0002093	Respiratory insufficiency	1	DNAAF5 CL E G H	54919	26013	ORPHA:244	Primary ciliary dyskinesia			62
HP:0002795	HP:0006536	Airway obstruction	1	DNAAF5 CL E G H	54919	26013	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		62
HP:0002795	HP:0012735	Cough	1	DNAAF5 CL E G H	54919	26013	ORPHA:244	Primary ciliary dyskinesia			62
HP:0002795	HP:0030829	Abnormal breath sound	1	DNAAF5 CL E G H	54919	26013	ORPHA:244	Primary ciliary dyskinesia			62
HP:0002795	HP:0002093	Respiratory insufficiency	1	DNAAF6 CL E G H	139212	28570	OMIM:300991	Ciliary dyskinesia, primary, 36, X-linked
HP:0002795	HP:0012735	Cough	1	DNAAF6 CL E G H	139212	28570	OMIM:300991	Ciliary dyskinesia, primary, 36, X-linked	.
HP:0002795	HP:0002093	Respiratory insufficiency	1	DNAAF6 CL E G H	139212	28570	ORPHA:244	Primary ciliary dyskinesia
HP:0002795	HP:0006536	Airway obstruction	1	DNAAF6 CL E G H	139212	28570	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0002795	HP:0012735	Cough	1	DNAAF6 CL E G H	139212	28570	ORPHA:244	Primary ciliary dyskinesia
HP:0002795	HP:0030829	Abnormal breath sound	1	DNAAF6 CL E G H	139212	28570	ORPHA:244	Primary ciliary dyskinesia
HP:0002795	HP:0030829	Abnormal breath sound	1	DNAH1 CL E G H	25981	2940	OMIM:617577	Ciliary dyskinesia, primary, 37			21
HP:0002795	HP:0031416	Abnormal nasal mucus secretion	1	DNAH1 CL E G H	25981	2940	OMIM:617577	Ciliary dyskinesia, primary, 37			21
HP:0002795	HP:0002093	Respiratory insufficiency	1	DNAH1 CL E G H	25981	2940	ORPHA:244	Primary ciliary dyskinesia			21
HP:0002795	HP:0006536	Airway obstruction	1	DNAH1 CL E G H	25981	2940	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		21
HP:0002795	HP:0012735	Cough	1	DNAH1 CL E G H	25981	2940	ORPHA:244	Primary ciliary dyskinesia			21
HP:0002795	HP:0030829	Abnormal breath sound	1	DNAH1 CL E G H	25981	2940	ORPHA:244	Primary ciliary dyskinesia			21
HP:0002795	HP:0033036	Decreased nasal nitric oxide	1	DNAH11 CL E G H	8701	2942	OMIM:611884	CILIARY DYSKINESIA, PRIMARY, 7; CILD7			542
HP:0002795	HP:0006536	Airway obstruction	1	DNAH11 CL E G H	8701	2942	OMIM:611884	CILIARY DYSKINESIA, PRIMARY, 7; CILD7			542
HP:0002795	HP:0012261	Abnormal respiratory motile cilium physiology	1	DNAH11 CL E G H	8701	2942	OMIM:611884	CILIARY DYSKINESIA, PRIMARY, 7; CILD7			542
HP:0002795	HP:0012735	Cough	1	DNAH11 CL E G H	8701	2942	OMIM:611884	CILIARY DYSKINESIA, PRIMARY, 7; CILD7			542
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	DNAH11 CL E G H	8701	2942	OMIM:611884	CILIARY DYSKINESIA, PRIMARY, 7; CILD7			542
HP:0002795	HP:0002093	Respiratory insufficiency	1	DNAH11 CL E G H	8701	2942	ORPHA:244	Primary ciliary dyskinesia			542
HP:0002795	HP:0006536	Airway obstruction	1	DNAH11 CL E G H	8701	2942	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		542
HP:0002795	HP:0012735	Cough	1	DNAH11 CL E G H	8701	2942	ORPHA:244	Primary ciliary dyskinesia			542
HP:0002795	HP:0030829	Abnormal breath sound	1	DNAH11 CL E G H	8701	2942	ORPHA:244	Primary ciliary dyskinesia			542
HP:0002795	HP:0033036	Decreased nasal nitric oxide	1	DNAH5 CL E G H	1767	2950	OMIM:608644	CILIARY DYSKINESIA, PRIMARY, 3; CILD3			527
HP:0002795	HP:0002093	Respiratory insufficiency	1	DNAH5 CL E G H	1767	2950	OMIM:608644	CILIARY DYSKINESIA, PRIMARY, 3; CILD3			527
HP:0002795	HP:0012261	Abnormal respiratory motile cilium physiology	1	DNAH5 CL E G H	1767	2950	OMIM:608644	CILIARY DYSKINESIA, PRIMARY, 3; CILD3			527
HP:0002795	HP:0002093	Respiratory insufficiency	1	DNAH5 CL E G H	1767	2950	ORPHA:244	Primary ciliary dyskinesia			527
HP:0002795	HP:0006536	Airway obstruction	1	DNAH5 CL E G H	1767	2950	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		527
HP:0002795	HP:0012735	Cough	1	DNAH5 CL E G H	1767	2950	ORPHA:244	Primary ciliary dyskinesia			527
HP:0002795	HP:0030829	Abnormal breath sound	1	DNAH5 CL E G H	1767	2950	ORPHA:244	Primary ciliary dyskinesia			527
HP:0002795	HP:0033036	Decreased nasal nitric oxide	1	DNAH9 CL E G H	1770	2953	OMIM:618300	Ciliary dyskinesia, primary, 40			18
HP:0002795	HP:0012261	Abnormal respiratory motile cilium physiology	1	DNAH9 CL E G H	1770	2953	OMIM:618300	Ciliary dyskinesia, primary, 40			18
HP:0002795	HP:0012735	Cough	1	DNAH9 CL E G H	1770	2953	OMIM:618300	Ciliary dyskinesia, primary, 40	.		18
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	DNAH9 CL E G H	1770	2953	OMIM:618300	Ciliary dyskinesia, primary, 40			18
HP:0002795	HP:0002093	Respiratory insufficiency	1	DNAH9 CL E G H	1770	2953	ORPHA:244	Primary ciliary dyskinesia			18
HP:0002795	HP:0006536	Airway obstruction	1	DNAH9 CL E G H	1770	2953	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		18
HP:0002795	HP:0012735	Cough	1	DNAH9 CL E G H	1770	2953	ORPHA:244	Primary ciliary dyskinesia			18
HP:0002795	HP:0030829	Abnormal breath sound	1	DNAH9 CL E G H	1770	2953	ORPHA:244	Primary ciliary dyskinesia			18
HP:0002795	HP:0012261	Abnormal respiratory motile cilium physiology	1	DNAI1 CL E G H	27019	2954	OMIM:244400	Ciliary dyskinesia, primary, 1			73
HP:0002795	HP:0002093	Respiratory insufficiency	1	DNAI1 CL E G H	27019	2954	ORPHA:244	Primary ciliary dyskinesia			73
HP:0002795	HP:0006536	Airway obstruction	1	DNAI1 CL E G H	27019	2954	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		73
HP:0002795	HP:0012735	Cough	1	DNAI1 CL E G H	27019	2954	ORPHA:244	Primary ciliary dyskinesia			73
HP:0002795	HP:0030829	Abnormal breath sound	1	DNAI1 CL E G H	27019	2954	ORPHA:244	Primary ciliary dyskinesia			73
HP:0002795	HP:0033036	Decreased nasal nitric oxide	1	DNAI2 CL E G H	64446	18744	OMIM:612444	CILIARY DYSKINESIA, PRIMARY, 9; CILD9			104
HP:0002795	HP:0002093	Respiratory insufficiency	1	DNAI2 CL E G H	64446	18744	OMIM:612444	CILIARY DYSKINESIA, PRIMARY, 9; CILD9			104
HP:0002795	HP:0012261	Abnormal respiratory motile cilium physiology	1	DNAI2 CL E G H	64446	18744	OMIM:612444	CILIARY DYSKINESIA, PRIMARY, 9; CILD9			104
HP:0002795	HP:0012735	Cough	1	DNAI2 CL E G H	64446	18744	OMIM:612444	CILIARY DYSKINESIA, PRIMARY, 9; CILD9			104
HP:0002795	HP:0002093	Respiratory insufficiency	1	DNAI2 CL E G H	64446	18744	ORPHA:244	Primary ciliary dyskinesia			104
HP:0002795	HP:0006536	Airway obstruction	1	DNAI2 CL E G H	64446	18744	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		104
HP:0002795	HP:0012735	Cough	1	DNAI2 CL E G H	64446	18744	ORPHA:244	Primary ciliary dyskinesia			104
HP:0002795	HP:0030829	Abnormal breath sound	1	DNAI2 CL E G H	64446	18744	ORPHA:244	Primary ciliary dyskinesia			104
HP:0002795	HP:0033036	Decreased nasal nitric oxide	1	DNAJB13 CL E G H	374407	30718	OMIM:617091	CILIARY DYSKINESIA, PRIMARY, 34; CILD34			2
HP:0002795	HP:0002093	Respiratory insufficiency	1	DNAJB13 CL E G H	374407	30718	OMIM:617091	CILIARY DYSKINESIA, PRIMARY, 34; CILD34			2
HP:0002795	HP:0012261	Abnormal respiratory motile cilium physiology	1	DNAJB13 CL E G H	374407	30718	OMIM:617091	CILIARY DYSKINESIA, PRIMARY, 34; CILD34			2
HP:0002795	HP:0002093	Respiratory insufficiency	1	DNAJB13 CL E G H	374407	30718	ORPHA:244	Primary ciliary dyskinesia			2
HP:0002795	HP:0006536	Airway obstruction	1	DNAJB13 CL E G H	374407	30718	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		2
HP:0002795	HP:0012735	Cough	1	DNAJB13 CL E G H	374407	30718	ORPHA:244	Primary ciliary dyskinesia			2
HP:0002795	HP:0030829	Abnormal breath sound	1	DNAJB13 CL E G H	374407	30718	ORPHA:244	Primary ciliary dyskinesia			2
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	DNAJB6 CL E G H	10049	14888	OMIM:603511	Muscular dystrophy, limb-girdle, type 1E			103
HP:0002795	HP:0002093	Respiratory insufficiency	1	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1			5
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1			5
HP:0002795	HP:0012261	Abnormal respiratory motile cilium physiology	1	DNAL1 CL E G H	83544	23247	OMIM:614017	CILIARY DYSKINESIA, PRIMARY, 16; CILD16			167
HP:0002795	HP:0002093	Respiratory insufficiency	1	DNAL1 CL E G H	83544	23247	ORPHA:244	Primary ciliary dyskinesia			167
HP:0002795	HP:0006536	Airway obstruction	1	DNAL1 CL E G H	83544	23247	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		167
HP:0002795	HP:0012735	Cough	1	DNAL1 CL E G H	83544	23247	ORPHA:244	Primary ciliary dyskinesia			167
HP:0002795	HP:0030829	Abnormal breath sound	1	DNAL1 CL E G H	83544	23247	ORPHA:244	Primary ciliary dyskinesia			167
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	DNASE1L3 CL E G H	1776	2959	ORPHA:36412	Hypocomplementemic urticarial vasculitis			3
HP:0002795	HP:0006536	Airway obstruction	1	DNASE1L3 CL E G H	1776	2959	ORPHA:36412	Hypocomplementemic urticarial vasculitis	HP:0040283 - Occasional		3
HP:0002795	HP:0012735	Cough	1	DNASE1L3 CL E G H	1776	2959	ORPHA:36412	Hypocomplementemic urticarial vasculitis	HP:0040282 - Frequent		3
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	DNASE1L3 CL E G H	1776	2959	ORPHA:36412	Hypocomplementemic urticarial vasculitis			3
HP:0002795	HP:0002093	Respiratory insufficiency	1	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1			94
HP:0002795	HP:0002093	Respiratory insufficiency	1	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy			167
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy			167
HP:0002795	HP:0002093	Respiratory insufficiency	1	DNM2 CL E G H	1785	2974	OMIM:615368	Lethal congenital contracture syndrome 5	.		167
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome			18
HP:0002795	HP:0002099	Asthma	1	DOCK8 CL E G H	81704	19191	ORPHA:217390	Combined immunodeficiency due to DOCK8 deficiency	HP:0040281 - Very frequent		217
HP:0002795	HP:0002099	Asthma	1	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive	.		217
HP:0002795	HP:0002093	Respiratory insufficiency	1	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent		91
HP:0002795	HP:0002093	Respiratory insufficiency	1	DOK7 CL E G H	285489	26594	OMIM:254300	Myasthenia, limb-girdle, familial			91
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	DOK7 CL E G H	285489	26594	OMIM:254300	Myasthenia, limb-girdle, familial			91
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	DOK7 CL E G H	285489	26594	OMIM:254300	Myasthenia, limb-girdle, familial			91
HP:0002795	HP:0002093	Respiratory insufficiency	1	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			91
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			91
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			91
HP:0002795	HP:0002835	Aspiration	1	DOLK CL E G H	22845	23406	OMIM:610768	Congenital disorder of glycosylation, type Im			55
HP:0002795	HP:0002093	Respiratory insufficiency	1	DPAGT1 CL E G H	1798	2995	OMIM:608093	Congenital disorder of glycosylation, type Ij	HP:0040283 - Occasional		38
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	DPAGT1 CL E G H	1798	2995	OMIM:608093	Congenital disorder of glycosylation, type Ij			38
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome			3
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE			27
HP:0002795	HP:0002093	Respiratory insufficiency	1	DPM2 CL E G H	8818	3006	OMIM:615042	Congenital disorder of glycosylation, type Iu			26
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	DPM2 CL E G H	8818	3006	OMIM:615042	Congenital disorder of glycosylation, type Iu			26
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy			26
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	DPP9 CL E G H	91039	18648	ORPHA:2032	Idiopathic pulmonary fibrosis
HP:0002795	HP:0012735	Cough	1	DPP9 CL E G H	91039	18648	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent
HP:0002795	HP:0030829	Abnormal breath sound	1	DPP9 CL E G H	91039	18648	ORPHA:2032	Idiopathic pulmonary fibrosis
HP:0002795	HP:0002093	Respiratory insufficiency	1	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency			144
HP:0002795	HP:0033036	Decreased nasal nitric oxide	1	DRC1 CL E G H	92749	24245	OMIM:615294	CILIARY DYSKINESIA, PRIMARY, 21; CILD21			44
HP:0002795	HP:0002093	Respiratory insufficiency	1	DRC1 CL E G H	92749	24245	OMIM:615294	CILIARY DYSKINESIA, PRIMARY, 21; CILD21			44
HP:0002795	HP:0012261	Abnormal respiratory motile cilium physiology	1	DRC1 CL E G H	92749	24245	OMIM:615294	CILIARY DYSKINESIA, PRIMARY, 21; CILD21			44
HP:0002795	HP:0002093	Respiratory insufficiency	1	DRC1 CL E G H	92749	24245	ORPHA:244	Primary ciliary dyskinesia			44
HP:0002795	HP:0006536	Airway obstruction	1	DRC1 CL E G H	92749	24245	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		44
HP:0002795	HP:0012735	Cough	1	DRC1 CL E G H	92749	24245	ORPHA:244	Primary ciliary dyskinesia			44
HP:0002795	HP:0030829	Abnormal breath sound	1	DRC1 CL E G H	92749	24245	ORPHA:244	Primary ciliary dyskinesia			44
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	DSC2 CL E G H	1824	3036	OMIM:610476	Arrhythmogenic right ventricular dysplasia, familial, 11			268
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	DSG2 CL E G H	1829	3049	OMIM:612877	CARDIOMYOPATHY, DILATED, 1BB; CMD1BB			358
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	DSP CL E G H	1832	3052	ORPHA:2032	Idiopathic pulmonary fibrosis			747
HP:0002795	HP:0012735	Cough	1	DSP CL E G H	1832	3052	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent		747
HP:0002795	HP:0030829	Abnormal breath sound	1	DSP CL E G H	1832	3052	ORPHA:2032	Idiopathic pulmonary fibrosis			747
HP:0002795	HP:0002093	Respiratory insufficiency	1	DSP CL E G H	1832	3052	ORPHA:158687	Lethal acantholytic erosive disorder			747
HP:0002795	HP:0002093	Respiratory insufficiency	1	DST CL E G H	667	1090	OMIM:614653	Neuropathy, hereditary sensory and autonomic, type VI	.		108
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	DST CL E G H	667	1090	OMIM:614653	Neuropathy, hereditary sensory and autonomic, type VI			108
HP:0002795	HP:0002835	Aspiration	1	DST CL E G H	667	1090	OMIM:614653	Neuropathy, hereditary sensory and autonomic, type VI			108
HP:0002795	HP:0030829	Abnormal breath sound	1	DST CL E G H	667	1090	OMIM:614653	Neuropathy, hereditary sensory and autonomic, type VI			108
HP:0002795	HP:0002093	Respiratory insufficiency	1	DTYMK CL E G H	1841	3061	OMIM:619847
HP:0002795	HP:0002093	Respiratory insufficiency	1	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease			65
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease			65
HP:0002795	HP:0002093	Respiratory insufficiency	1	DYNC2H1 CL E G H	79659	2962	ORPHA:474	Jeune syndrome	HP:0040282 - Frequent		304
HP:0002795	HP:0002093	Respiratory insufficiency	1	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040281 - Very frequent		304
HP:0002795	HP:0002093	Respiratory insufficiency	1	DYNC2I1 CL E G H	55112	21862	ORPHA:474	Jeune syndrome	HP:0040282 - Frequent
HP:0002795	HP:0002093	Respiratory insufficiency	1	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040281 - Very frequent
HP:0002795	HP:0002093	Respiratory insufficiency	1	DYNC2I2 CL E G H	89891	28296	ORPHA:474	Jeune syndrome	HP:0040282 - Frequent
HP:0002795	HP:0002093	Respiratory insufficiency	1	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040281 - Very frequent
HP:0002795	HP:0002093	Respiratory insufficiency	1	DYNC2I2 CL E G H	89891	28296	OMIM:615633	Short-Rib thoracic dysplasia 11 with or without polydactyly	.
HP:0002795	HP:0002093	Respiratory insufficiency	1	DYNC2LI1 CL E G H	51626	24595	ORPHA:474	Jeune syndrome	HP:0040282 - Frequent		7
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	DYNC2LI1 CL E G H	51626	24595	OMIM:617088	Short-rib thoracic dysplasia 15 with polydactyly			7
HP:0002795	HP:0002093	Respiratory insufficiency	1	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease			4
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease			4
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	ECHS1 CL E G H	1892	3151	ORPHA:255241	Leigh syndrome with leukodystrophy			33
HP:0002795	HP:0002093	Respiratory insufficiency	1	ECHS1 CL E G H	1892	3151	OMIM:616277	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency			33
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	ECHS1 CL E G H	1892	3151	OMIM:616277	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency			33
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked			115
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	EDN1 CL E G H	1906	3176	ORPHA:137888	Auriculocondylar syndrome			6
HP:0002795	HP:0002093	Respiratory insufficiency	1	EDN3 CL E G H	1908	3178	ORPHA:661	Ondine syndrome	HP:0040281 - Very frequent		67
HP:0002795	HP:0002099	Asthma	1	EDNRA CL E G H	1909	3179	ORPHA:586	Cystic fibrosis			3
HP:0002795	HP:0006536	Airway obstruction	1	EDNRA CL E G H	1909	3179	ORPHA:586	Cystic fibrosis			3
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	EDNRA CL E G H	1909	3179	ORPHA:586	Cystic fibrosis			3
HP:0002795	HP:0002093	Respiratory insufficiency	1	EFEMP2 CL E G H	30008	3219	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040282 - Frequent		45
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type			48
HP:0002795	HP:0002093	Respiratory insufficiency	1	EGR2 CL E G H	1959	3239	OMIM:605253	Neuropathy, congenital hypomyelinating, 1, autosomal recessive	.		58
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	EIF2AK4 CL E G H	440275	19687	ORPHA:199241	Pulmonary capillary hemangiomatosis			40
HP:0002795	HP:0012415	Abnormal blood gas level	1	EIF2AK4 CL E G H	440275	19687	ORPHA:199241	Pulmonary capillary hemangiomatosis			40
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	EIF2AK4 CL E G H	440275	19687	ORPHA:199241	Pulmonary capillary hemangiomatosis			40
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	EIF2AK4 CL E G H	440275	19687	ORPHA:199241	Pulmonary capillary hemangiomatosis			40
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	EIF2AK4 CL E G H	440275	19687	OMIM:234810	PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD2			40
HP:0002795	HP:0012735	Cough	1	EIF2AK4 CL E G H	440275	19687	OMIM:234810	PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD2			40
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	EIF2AK4 CL E G H	440275	19687	OMIM:234810	PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD2			40
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	EIF2AK4 CL E G H	440275	19687	OMIM:234810	PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD2			40
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	ELN CL E G H	2006	3327	OMIM:123700	Cutis laxa, autosomal dominant 1			172
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	ELN CL E G H	2006	3327	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			172
HP:0002795	HP:0002099	Asthma	1	ELOVL4 CL E G H	6785	14415	OMIM:614457	Ichthyosis, spastic quadriplegia, and mental retardation	HP:0040283 - Occasional		62
HP:0002795	HP:0005957	Breathing dysregulation	1	ELP1 CL E G H	8518	5959	OMIM:223900	Neuropathy, hereditary sensory and autonomic, type III			133
HP:0002795	HP:0002093	Respiratory insufficiency	1	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy			107
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy			107
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	ENG CL E G H	2022	3349	ORPHA:774	Hereditary hemorrhagic telangiectasia			186
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1			186
HP:0002795	HP:0006536	Airway obstruction	1	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1			186
HP:0002795	HP:0012415	Abnormal blood gas level	1	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1			186
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1			186
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1			186
HP:0002795	HP:0002093	Respiratory insufficiency	1	ENPP1 CL E G H	5167	3356	OMIM:208000	Arterial calcification, generalized, of infancy, 1			151
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy			151
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy			151
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome			4
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	EOMES CL E G H	8320	3372	ORPHA:171703	Microcephaly-polymicrogyria-corpus callosum agenesis syndrome			7
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0002795	HP:0002099	Asthma	1	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040284 - Very rare		250
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency			250
HP:0002795	HP:0002835	Aspiration	1	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040283 - Occasional		250
HP:0002795	HP:0002093	Respiratory insufficiency	1	EPHA4 CL E G H	2043	3388	ORPHA:803	Amyotrophic lateral sclerosis			4
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	EPHA4 CL E G H	2043	3388	ORPHA:803	Amyotrophic lateral sclerosis			4
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	EPHB4 CL E G H	2050	3395	OMIM:617300	Lymphatic malformation 7			3
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	EPOR CL E G H	2057	3416	ORPHA:90042	Primary familial polycythemia			43
HP:0002795	HP:0012735	Cough	1	EPOR CL E G H	2057	3416	ORPHA:90042	Primary familial polycythemia	HP:0040283 - Occasional		43
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease			1
HP:0002795	HP:0002093	Respiratory insufficiency	1	ERBB3 CL E G H	2065	3431	OMIM:607598	Lethal congenital contracture syndrome 2			12
HP:0002795	HP:0002093	Respiratory insufficiency	1	ERBB4 CL E G H	2066	3432	ORPHA:803	Amyotrophic lateral sclerosis			15
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	ERBB4 CL E G H	2066	3432	ORPHA:803	Amyotrophic lateral sclerosis			15
HP:0002795	HP:0002093	Respiratory insufficiency	1	ERBB4 CL E G H	2066	3432	OMIM:615515	Amyotrophic lateral sclerosis 19			15
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	ERBB4 CL E G H	2066	3432	OMIM:615515	Amyotrophic lateral sclerosis 19			15
HP:0002795	HP:0025427	Abnormal bronchus physiology	1	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy			106
HP:0002795	HP:0002099	Asthma	1	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive	.		106
HP:0002795	HP:0025427	Abnormal bronchus physiology	1	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy			54
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	ERF CL E G H	2077	3444	OMIM:617180	Chitayat syndrome			12
HP:0002795	HP:0002093	Respiratory insufficiency	1	ERF CL E G H	2077	3444	ORPHA:207	Crouzon disease	HP:0040283 - Occasional		12
HP:0002795	HP:0002093	Respiratory insufficiency	1	ERGIC1 CL E G H	57222	29205	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	ERGIC1 CL E G H	57222	29205	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	ERGIC1 CL E G H	57222	29205	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	ETFA CL E G H	2108	3481	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency			37
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	ETFB CL E G H	2109	3482	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency			27
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	ETFDH CL E G H	2110	3483	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency			77
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	EXOC2 CL E G H	55770	24968	OMIM:619306	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH			1
HP:0002795	HP:0002093	Respiratory insufficiency	1	EXOC6B CL E G H	23233	17085	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity			3
HP:0002795	HP:0002093	Respiratory insufficiency	1	EXOSC3 CL E G H	51010	17944	ORPHA:2254	Pontocerebellar hypoplasia type 1			38
HP:0002795	HP:0030829	Abnormal breath sound	1	EXOSC3 CL E G H	51010	17944	ORPHA:2254	Pontocerebellar hypoplasia type 1			38
HP:0002795	HP:0002093	Respiratory insufficiency	1	EXOSC3 CL E G H	51010	17944	OMIM:614678	Pontocerebellar hypoplasia, type 1B	.		38
HP:0002795	HP:0002093	Respiratory insufficiency	1	EXOSC8 CL E G H	11340	17035	ORPHA:2254	Pontocerebellar hypoplasia type 1			4
HP:0002795	HP:0030829	Abnormal breath sound	1	EXOSC8 CL E G H	11340	17035	ORPHA:2254	Pontocerebellar hypoplasia type 1			4
HP:0002795	HP:0002093	Respiratory insufficiency	1	EXOSC8 CL E G H	11340	17035	OMIM:616081	Pontocerebellar hypoplasia, type 1C	.		4
HP:0002795	HP:0002093	Respiratory insufficiency	1	EXOSC9 CL E G H	5393	9137	ORPHA:2254	Pontocerebellar hypoplasia type 1
HP:0002795	HP:0030829	Abnormal breath sound	1	EXOSC9 CL E G H	5393	9137	ORPHA:2254	Pontocerebellar hypoplasia type 1
HP:0002795	HP:0002093	Respiratory insufficiency	1	EXOSC9 CL E G H	5393	9137	OMIM:618065	Pontocerebellar hypoplasia, type 1D	.
HP:0002795	HP:0006536	Airway obstruction	1	F12 CL E G H	2161	3530	OMIM:610618	ANGIOEDEMA, HEREDITARY, TYPE III; HAE3			28
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	F13A1 CL E G H	2162	3531	OMIM:188050	Thrombophiliavenous thromboembolism, included			60
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	F2 CL E G H	2147	3535	OMIM:188050	Thrombophiliavenous thromboembolism, included			44
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	F8 CL E G H	2157	3546	OMIM:301071	THROMBOPHILIA, X-LINKED, DUE TO FACTOR VIII DEFECT; THPH13			303
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	FAM13A CL E G H	10144	19367	ORPHA:2032	Idiopathic pulmonary fibrosis
HP:0002795	HP:0012735	Cough	1	FAM13A CL E G H	10144	19367	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent
HP:0002795	HP:0030829	Abnormal breath sound	1	FAM13A CL E G H	10144	19367	ORPHA:2032	Idiopathic pulmonary fibrosis
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	FAM149B1 CL E G H	317662	29162	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0002795	HP:0002093	Respiratory insufficiency	1	FAM20C CL E G H	56975	22140	ORPHA:1832	Lethal osteosclerotic bone dysplasia			35
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	FAM20C CL E G H	56975	22140	ORPHA:1832	Lethal osteosclerotic bone dysplasia			35
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	FARS2 CL E G H	10667	21062	ORPHA:466722	Autosomal recessive spastic paraplegia type 77			36
HP:0002795	HP:0012735	Cough	1	FARSA CL E G H	2193	3592	OMIM:619013	RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	FARSA CL E G H	2193	3592	OMIM:619013	RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2
HP:0002795	HP:0002093	Respiratory insufficiency	1	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0002795	HP:0012735	Cough	1	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	FAS CL E G H	355	11920	ORPHA:117	Behçet disease			59
HP:0002795	HP:0002093	Respiratory insufficiency	1	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome	HP:0040283 - Occasional		114
HP:0002795	HP:0002093	Respiratory insufficiency	1	FBLN5 CL E G H	10516	3602	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040282 - Frequent		63
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	FBN1 CL E G H	2200	3603	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			1361
HP:0002795	HP:0002093	Respiratory insufficiency	1	FBN1 CL E G H	2200	3603	OMIM:614185	GELEOPHYSIC DYSPLASIA 2; GPHYSD2			1361
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	FBN1 CL E G H	2200	3603	OMIM:614185	GELEOPHYSIC DYSPLASIA 2; GPHYSD2			1361
HP:0002795	HP:0002093	Respiratory insufficiency	1	FBN1 CL E G H	2200	3603	ORPHA:284979	Neonatal Marfan syndrome			1361
HP:0002795	HP:0012415	Abnormal blood gas level	1	FBN1 CL E G H	2200	3603	ORPHA:284979	Neonatal Marfan syndrome			1361
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome			1361
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	FBP1 CL E G H	2203	3606	ORPHA:348	Fructose-1,6-bisphosphatase deficiency			64
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	FBP1 CL E G H	2203	3606	OMIM:229700	Fructose-1,6-Bisphosphatase deficiency			64
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0002795	HP:0002835	Aspiration	1	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0002795	HP:0002099	Asthma	1	FCGR2A CL E G H	2212	3616	OMIM:219700	Cystic fibrosis	.		6
HP:0002795	HP:0006528	Chronic lung disease	1	FCGR2A CL E G H	2212	3616	OMIM:219700	Cystic fibrosis	.		6
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	FCGR2A CL E G H	2212	3616	OMIM:219700	Cystic fibrosis			6
HP:0002795	HP:0030829	Abnormal breath sound	1	FCGR3A CL E G H	2214	3619	OMIM:615707	Immunodeficiency 20			4
HP:0002795	HP:0002093	Respiratory insufficiency	1	FCSK CL E G H	197258	29500	OMIM:618324	Congenital disorder of glycosylation with defective fucosylation 2	.
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	FGF13 CL E G H	2258	3670	OMIM:301058	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE90			1
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		17
HP:0002795	HP:0006528	Chronic lung disease	1	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		17
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		17
HP:0002795	HP:0006528	Chronic lung disease	1	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		17
HP:0002795	HP:0002099	Asthma	1	FGF8 CL E G H	2253	3686	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		17
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		17
HP:0002795	HP:0006528	Chronic lung disease	1	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		17
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		17
HP:0002795	HP:0006528	Chronic lung disease	1	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		17
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	FGFR1 CL E G H	2260	3688	ORPHA:2396	Encephalocraniocutaneous lipomatosis			172
HP:0002795	HP:0002093	Respiratory insufficiency	1	FGFR1 CL E G H	2260	3688	ORPHA:2117	Hartsfield syndrome	HP:0040281 - Very frequent		172
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		172
HP:0002795	HP:0006528	Chronic lung disease	1	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		172
HP:0002795	HP:0002099	Asthma	1	FGFR1 CL E G H	2260	3688	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		172
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia			172
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		172
HP:0002795	HP:0006528	Chronic lung disease	1	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		172
HP:0002795	HP:0006536	Airway obstruction	1	FGFR2 CL E G H	2263	3689	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis			175
HP:0002795	HP:0002093	Respiratory insufficiency	1	FGFR2 CL E G H	2263	3689	ORPHA:87	Apert syndrome	HP:0040283 - Occasional		175
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome			175
HP:0002795	HP:0002093	Respiratory insufficiency	1	FGFR2 CL E G H	2263	3689	ORPHA:207	Crouzon disease	HP:0040283 - Occasional		175
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	FGFR2 CL E G H	2263	3689	OMIM:123500	Crouzon syndrome			175
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	FGFR2 CL E G H	2263	3689	ORPHA:1555	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome			175
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	FGFR2 CL E G H	2263	3689	ORPHA:93259	Pfeiffer syndrome type 2			175
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	FGFR2 CL E G H	2263	3689	ORPHA:93260	Pfeiffer syndrome type 3			175
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome			175
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	FGFR3 CL E G H	2261	3690	ORPHA:15	Achondroplasia			145
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA			145
HP:0002795	HP:0006536	Airway obstruction	1	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA			145
HP:0002795	HP:0012415	Abnormal blood gas level	1	FGFR3 CL E G H	2261	3690	ORPHA:15	Achondroplasia			145
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	FGFR3 CL E G H	2261	3690	ORPHA:15	Achondroplasia			145
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	FGFR3 CL E G H	2261	3690	OMIM:616482	Achondroplasia, severe, with developmental delay and acanthosis nigricans			145
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	FGFR3 CL E G H	2261	3690	OMIM:616482	Achondroplasia, severe, with developmental delay and acanthosis nigricans			145
HP:0002795	HP:0002093	Respiratory insufficiency	1	FGFR3 CL E G H	2261	3690	ORPHA:93262	Crouzon syndrome-acanthosis nigricans syndrome	HP:0040283 - Occasional		145
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	FGFR3 CL E G H	2261	3690	ORPHA:429	Hypochondroplasia			145
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome			145
HP:0002795	HP:0002093	Respiratory insufficiency	1	FGFR3 CL E G H	2261	3690	ORPHA:1860	Thanatophoric dysplasia type 1	HP:0040281 - Very frequent		145
HP:0002795	HP:0002093	Respiratory insufficiency	1	FGFR3 CL E G H	2261	3690	ORPHA:93274	Thanatophoric dysplasia type 2	HP:0040281 - Very frequent		145
HP:0002795	HP:0002093	Respiratory insufficiency	1	FGFR3 CL E G H	2261	3690	OMIM:187600	Thanatophoric dysplasia, type I	.		145
HP:0002795	HP:0002093	Respiratory insufficiency	1	FGFR3 CL E G H	2261	3690	OMIM:187601	Thanatophoric dysplasia, type II	.		145
HP:0002795	HP:0002093	Respiratory insufficiency	1	FHL1 CL E G H	2273	3702	OMIM:300718	Myopathy, reducing body, X-linked, childhood-onset			68
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	FHL1 CL E G H	2273	3702	OMIM:300718	Myopathy, reducing body, X-linked, childhood-onset			68
HP:0002795	HP:0002093	Respiratory insufficiency	1	FHL1 CL E G H	2273	3702	OMIM:300717	Myopathy, reducing body, X-linked, early-onset, severe	.		68
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	FHL1 CL E G H	2273	3702	OMIM:300717	Myopathy, reducing body, X-linked, early-onset, severe			68
HP:0002795	HP:0002093	Respiratory insufficiency	1	FHL1 CL E G H	2273	3702	OMIM:300696	Myopathy, X-linked, with postural muscle atrophy	.		68
HP:0002795	HP:0002093	Respiratory insufficiency	1	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy			68
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy			68
HP:0002795	HP:0002093	Respiratory insufficiency	1	FIG4 CL E G H	9896	16873	ORPHA:803	Amyotrophic lateral sclerosis			111
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	FIG4 CL E G H	9896	16873	ORPHA:803	Amyotrophic lateral sclerosis			111
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome			111
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome			111
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	FIP1L1 CL E G H	81608	19124	ORPHA:520	Acute promyelocytic leukemia			4
HP:0002795	HP:0012735	Cough	1	FIP1L1 CL E G H	81608	19124	ORPHA:520	Acute promyelocytic leukemia			4
HP:0002795	HP:0002093	Respiratory insufficiency	1	FKBP10 CL E G H	60681	18169	ORPHA:2771	Bruck syndrome	HP:0040282 - Frequent		61
HP:0002795	HP:0002093	Respiratory insufficiency	1	FKRP CL E G H	79147	17997	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional		157
HP:0002795	HP:0002093	Respiratory insufficiency	1	FKRP CL E G H	79147	17997	OMIM:613153	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5	.		157
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	FKRP CL E G H	79147	17997	OMIM:606612	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5			157
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	FKRP CL E G H	79147	17997	OMIM:607155	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5			157
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	FKRP CL E G H	79147	17997	OMIM:607155	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5			157
HP:0002795	HP:0002093	Respiratory insufficiency	1	FKTN CL E G H	2218	3622	OMIM:253800	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4	.		184
HP:0002795	HP:0002093	Respiratory insufficiency	1	FLAD1 CL E G H	80308	24671	OMIM:255100	Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency	.		18
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	FLCN CL E G H	201163	27310	OMIM:610883	Potocki-Lupski syndrome			332
HP:0002795	HP:0002099	Asthma	1	FLG CL E G H	2312	3748	OMIM:146700	ICHTHYOSIS VULGARIS			63
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	FLNA CL E G H	2316	3754	ORPHA:555877	FLNA-related X-linked myxomatous valvular dysplasia			493
HP:0002795	HP:0030829	Abnormal breath sound	1	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia			493
HP:0002795	HP:0002093	Respiratory insufficiency	1	FLNA CL E G H	2316	3754	ORPHA:2484	Melnick-Needles syndrome	HP:0040283 - Occasional		493
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome			493
HP:0002795	HP:0002093	Respiratory insufficiency	1	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II	.		493
HP:0002795	HP:0002093	Respiratory insufficiency	1	FLNB CL E G H	2317	3755	ORPHA:56305	Atelosteogenesis type III	HP:0040282 - Frequent		233
HP:0002795	HP:0002093	Respiratory insufficiency	1	FLNB CL E G H	2317	3755	ORPHA:503	Larsen syndrome	HP:0040283 - Occasional		233
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome			233
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	FLNC CL E G H	2318	3756	ORPHA:75249	Familial isolated restrictive cardiomyopathy			197
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	FLNC CL E G H	2318	3756	ORPHA:75249	Familial isolated restrictive cardiomyopathy			197
HP:0002795	HP:0002093	Respiratory insufficiency	1	FLNC CL E G H	2318	3756	OMIM:609524	Filaminopathy, autosomal dominant	.		197
HP:0002795	HP:0002099	Asthma	1	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0002795	HP:0012735	Cough	1	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0002795	HP:0006528	Chronic lung disease	1	FOXE1 CL E G H	2304	3806	ORPHA:319487	Familial papillary or follicular thyroid carcinoma	HP:0040283 - Occasional		9
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	FOXE3 CL E G H	2301	3808	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			23
HP:0002795	HP:0002093	Respiratory insufficiency	1	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins			61
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins			61
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia			61
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia			61
HP:0002795	HP:0002835	Aspiration	1	FOXG1 CL E G H	2290	3811	OMIM:613454	Rett syndrome, congenital variant			177
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		48
HP:0002795	HP:0006528	Chronic lung disease	1	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		48
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		48
HP:0002795	HP:0006528	Chronic lung disease	1	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		48
HP:0002795	HP:0002099	Asthma	1	FOXH1 CL E G H	8928	3814	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		48
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		48
HP:0002795	HP:0006528	Chronic lung disease	1	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		48
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		48
HP:0002795	HP:0006528	Chronic lung disease	1	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		48
HP:0002795	HP:0002093	Respiratory insufficiency	1	FOXI1 CL E G H	2299	3815	ORPHA:705	Pendred syndrome	HP:0040283 - Occasional		33
HP:0002795	HP:0002093	Respiratory insufficiency	1	FOXJ1 CL E G H	2302	3816	OMIM:618699	CILIARY DYSKINESIA, PRIMARY, 43; CILD43
HP:0002795	HP:0012735	Cough	1	FOXJ1 CL E G H	2302	3816	OMIM:618699	CILIARY DYSKINESIA, PRIMARY, 43; CILD43
HP:0002795	HP:0002093	Respiratory insufficiency	1	FOXJ1 CL E G H	2302	3816	ORPHA:244	Primary ciliary dyskinesia
HP:0002795	HP:0006536	Airway obstruction	1	FOXJ1 CL E G H	2302	3816	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0002795	HP:0012735	Cough	1	FOXJ1 CL E G H	2302	3816	ORPHA:244	Primary ciliary dyskinesia
HP:0002795	HP:0030829	Abnormal breath sound	1	FOXJ1 CL E G H	2302	3816	ORPHA:244	Primary ciliary dyskinesia
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome			184
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome			32
HP:0002795	HP:0002093	Respiratory insufficiency	1	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		61
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	FOXRED1 CL E G H	55572	26927	ORPHA:255241	Leigh syndrome with leukodystrophy			61
HP:0002795	HP:0002093	Respiratory insufficiency	1	FOXRED1 CL E G H	55572	26927	OMIM:618241	Mitochondrial complex I deficiency, nuclear type 19	.		61
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	FRG1 CL E G H	2483	3954	OMIM:158900	Facioscapulohumeral muscular dystrophy 1			1
HP:0002795	HP:0002093	Respiratory insufficiency	1	FUS CL E G H	2521	4010	ORPHA:803	Amyotrophic lateral sclerosis			105
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	FUS CL E G H	2521	4010	ORPHA:803	Amyotrophic lateral sclerosis			105
HP:0002795	HP:0002093	Respiratory insufficiency	1	FUT8 CL E G H	2530	4019	OMIM:618005	Congenital disorder of glycosylation with defective fucosylation 1	.		3
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	FUZ CL E G H	80199	26219	ORPHA:1136	Arnold-Chiari malformation type II			3
HP:0002795	HP:0030829	Abnormal breath sound	1	FUZ CL E G H	80199	26219	ORPHA:1136	Arnold-Chiari malformation type II			3
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	FXR1 CL E G H	8087	4023	OMIM:618823	MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS; MYOPMIL
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	FXR1 CL E G H	8087	4023	OMIM:618822	MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES; MYORIBF
HP:0002795	HP:0002093	Respiratory insufficiency	1	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive	.		37
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive			37
HP:0002795	HP:0002093	Respiratory insufficiency	1	GAA CL E G H	2548	4065	ORPHA:308552	Glycogen storage disease due to acid maltase deficiency, infantile onset	HP:0040282 - Frequent		407
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	GAA CL E G H	2548	4065	ORPHA:308552	Glycogen storage disease due to acid maltase deficiency, infantile onset			407
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	GAA CL E G H	2548	4065	ORPHA:308552	Glycogen storage disease due to acid maltase deficiency, infantile onset			407
HP:0002795	HP:0002093	Respiratory insufficiency	1	GAA CL E G H	2548	4065	OMIM:232300	Glycogen storage disease II	.		407
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	GAA CL E G H	2548	4065	OMIM:232300	Glycogen storage disease II			407
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	GAA CL E G H	2548	4065	OMIM:232300	Glycogen storage disease II			407
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	GABBR2 CL E G H	9568	4507	ORPHA:3095	Atypical Rett syndrome	HP:0040281 - Very frequent		5
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	GABBR2 CL E G H	9568	4507	OMIM:617903	Neurodevelopmental disorder with poor language and loss of hand skills			5
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	GABRA1 CL E G H	2554	4075	ORPHA:64280	Childhood absence epilepsy			134
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	GABRA3 CL E G H	2556	4077	ORPHA:79102	Thyrotoxic periodic paralysis
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	GABRB3 CL E G H	2562	4083	ORPHA:64280	Childhood absence epilepsy			57
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	GABRG2 CL E G H	2566	4087	ORPHA:64280	Childhood absence epilepsy			139
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	GABRG2 CL E G H	2566	4087	ORPHA:1945	Rolandic epilepsy			139
HP:0002795	HP:0002093	Respiratory insufficiency	1	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease			160
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease			160
HP:0002795	HP:0002093	Respiratory insufficiency	1	GALK1 CL E G H	2584	4118	ORPHA:79237	Galactokinase deficiency			23
HP:0002795	HP:0025427	Abnormal bronchus physiology	1	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A			123
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A			123
HP:0002795	HP:0002093	Respiratory insufficiency	1	GARS1 CL E G H	2617	4162	OMIM:619042	SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE; SMAJI
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		2
HP:0002795	HP:0006528	Chronic lung disease	1	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		2
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		2
HP:0002795	HP:0006528	Chronic lung disease	1	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		2
HP:0002795	HP:0002099	Asthma	1	GAS1 CL E G H	2619	4165	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		2
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		2
HP:0002795	HP:0006528	Chronic lung disease	1	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		2
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		2
HP:0002795	HP:0006528	Chronic lung disease	1	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		2
HP:0002795	HP:0031602	Abnormal mucociliary clearance	1	GAS2L2 CL E G H	246176	24846	OMIM:618449	Ciliary dyskinesia, primary, 41			1
HP:0002795	HP:0002093	Respiratory insufficiency	1	GAS2L2 CL E G H	246176	24846	ORPHA:244	Primary ciliary dyskinesia			1
HP:0002795	HP:0006536	Airway obstruction	1	GAS2L2 CL E G H	246176	24846	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		1
HP:0002795	HP:0012735	Cough	1	GAS2L2 CL E G H	246176	24846	ORPHA:244	Primary ciliary dyskinesia			1
HP:0002795	HP:0030829	Abnormal breath sound	1	GAS2L2 CL E G H	246176	24846	ORPHA:244	Primary ciliary dyskinesia			1
HP:0002795	HP:0012261	Abnormal respiratory motile cilium physiology	1	GAS8 CL E G H	2622	4166	OMIM:616726	Ciliary dyskinesia, primary, 33			9
HP:0002795	HP:0012735	Cough	1	GAS8 CL E G H	2622	4166	OMIM:616726	Ciliary dyskinesia, primary, 33			9
HP:0002795	HP:0002093	Respiratory insufficiency	1	GAS8 CL E G H	2622	4166	ORPHA:244	Primary ciliary dyskinesia			9
HP:0002795	HP:0006536	Airway obstruction	1	GAS8 CL E G H	2622	4166	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		9
HP:0002795	HP:0012735	Cough	1	GAS8 CL E G H	2622	4166	ORPHA:244	Primary ciliary dyskinesia			9
HP:0002795	HP:0030829	Abnormal breath sound	1	GAS8 CL E G H	2622	4166	ORPHA:244	Primary ciliary dyskinesia			9
HP:0002795	HP:0002093	Respiratory insufficiency	1	GATA2 CL E G H	2624	4171	ORPHA:3226	Deafness-lymphedema-leukemia syndrome			137
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	GATA4 CL E G H	2626	4173	ORPHA:99103	Atrial septal defect, ostium secundum type			87
HP:0002795	HP:0005957	Breathing dysregulation	1	GATA4 CL E G H	2626	4173	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional		87
HP:0002795	HP:0006536	Airway obstruction	1	GATA4 CL E G H	2626	4173	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040284 - Very rare		87
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	GATA4 CL E G H	2626	4173	ORPHA:99103	Atrial septal defect, ostium secundum type			87
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	GATA6 CL E G H	2627	4174	OMIM:614475	Atrial septal defect 9			37
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	GATA6 CL E G H	2627	4174	ORPHA:99103	Atrial septal defect, ostium secundum type			37
HP:0002795	HP:0005957	Breathing dysregulation	1	GATA6 CL E G H	2627	4174	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional		37
HP:0002795	HP:0006536	Airway obstruction	1	GATA6 CL E G H	2627	4174	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040284 - Very rare		37
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	GATA6 CL E G H	2627	4174	ORPHA:99103	Atrial septal defect, ostium secundum type			37
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	GATA6 CL E G H	2627	4174	ORPHA:2140	Congenital diaphragmatic hernia			37
HP:0002795	HP:0012415	Abnormal blood gas level	1	GATA6 CL E G H	2627	4174	ORPHA:2140	Congenital diaphragmatic hernia			37
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome			37
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	GBA1 CL E G H	2629	4177	ORPHA:77259	Gaucher disease type 1
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	GBA1 CL E G H	2629	4177	ORPHA:77260	Gaucher disease type 2	HP:0040281 - Very frequent
HP:0002795	HP:0012735	Cough	1	GBA1 CL E G H	2629	4177	ORPHA:77260	Gaucher disease type 2	HP:0040282 - Frequent
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	GBA1 CL E G H	2629	4177	ORPHA:77261	Gaucher disease type 3
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	GBA1 CL E G H	2629	4177	OMIM:230800	Gaucher disease, type I
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	GBA1 CL E G H	2629	4177	OMIM:230800	Gaucher disease, type I
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	GBA1 CL E G H	2629	4177	OMIM:230900	Gaucher disease, type II
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
HP:0002795	HP:0002099	Asthma	1	GCLC CL E G H	2729	4311	ORPHA:586	Cystic fibrosis			2
HP:0002795	HP:0006536	Airway obstruction	1	GCLC CL E G H	2729	4311	ORPHA:586	Cystic fibrosis			2
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	GCLC CL E G H	2729	4311	ORPHA:586	Cystic fibrosis			2
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	GDAP1 CL E G H	54332	15968	ORPHA:99948	Charcot-Marie-Tooth disease type 4A			108
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	GDF2 CL E G H	2658	4217	ORPHA:774	Hereditary hemorrhagic telangiectasia			8
HP:0002795	HP:0002093	Respiratory insufficiency	1	GDNF CL E G H	2668	4232	ORPHA:661	Ondine syndrome	HP:0040281 - Very frequent		59
HP:0002795	HP:0002093	Respiratory insufficiency	1	GFPT1 CL E G H	2673	4241	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency			128
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	GFPT1 CL E G H	2673	4241	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency			128
HP:0002795	HP:0002093	Respiratory insufficiency	1	GFRA1 CL E G H	2674	4243	OMIM:619887				1
HP:0002795	HP:0002093	Respiratory insufficiency	1	GGPS1 CL E G H	9453	4249	OMIM:619518	MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	GGPS1 CL E G H	9453	4249	OMIM:619518	MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO
HP:0002795	HP:0002093	Respiratory insufficiency	1	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	GJA1 CL E G H	2697	4274	OMIM:600309	Atrioventricular septal defect 3			68
HP:0002795	HP:0002093	Respiratory insufficiency	1	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease	HP:0040283 - Occasional		291
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease			291
HP:0002795	HP:0006536	Airway obstruction	1	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease			291
HP:0002795	HP:0006536	Airway obstruction	1	GLA CL E G H	2717	4296	OMIM:301500	Fabry disease	.		291
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	GLB1 CL E G H	2720	4298	OMIM:253010	Mucopolysaccharidosis type IVB (Morquio)			120
HP:0002795	HP:0002093	Respiratory insufficiency	1	GLE1 CL E G H	2733	4315	ORPHA:803	Amyotrophic lateral sclerosis			45
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	GLE1 CL E G H	2733	4315	ORPHA:803	Amyotrophic lateral sclerosis			45
HP:0002795	HP:0002093	Respiratory insufficiency	1	GLE1 CL E G H	2733	4315	OMIM:611890	Congenital arthrogryposis with anterior horn cell disease			45
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	GLE1 CL E G H	2733	4315	OMIM:611890	Congenital arthrogryposis with anterior horn cell disease			45
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		173
HP:0002795	HP:0006528	Chronic lung disease	1	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		173
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		173
HP:0002795	HP:0006528	Chronic lung disease	1	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		173
HP:0002795	HP:0002099	Asthma	1	GLI2 CL E G H	2736	4318	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		173
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		173
HP:0002795	HP:0006528	Chronic lung disease	1	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		173
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		173
HP:0002795	HP:0006528	Chronic lung disease	1	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		173
HP:0002795	HP:0002093	Respiratory insufficiency	1	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040284 - Very rare		270
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	GLRA1 CL E G H	2741	4326	OMIM:149400	Hyperekplexia 1			63
HP:0002795	HP:0002835	Aspiration	1	GLRA1 CL E G H	2741	4326	OMIM:149400	Hyperekplexia 1	.		63
HP:0002795	HP:0002093	Respiratory insufficiency	1	GLS CL E G H	2744	4331	OMIM:618328	Epileptic encephalopathy, early infantile, 71	.
HP:0002795	HP:0002093	Respiratory insufficiency	1	GLT8D1 CL E G H	55830	24870	ORPHA:803	Amyotrophic lateral sclerosis
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	GLT8D1 CL E G H	55830	24870	ORPHA:803	Amyotrophic lateral sclerosis
HP:0002795	HP:0002093	Respiratory insufficiency	1	GLUL CL E G H	2752	4341	OMIM:610015	GLUTAMINE DEFICIENCY, CONGENITAL			98
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	GLUL CL E G H	2752	4341	OMIM:610015	GLUTAMINE DEFICIENCY, CONGENITAL			98
HP:0002795	HP:0002093	Respiratory insufficiency	1	GLYCTK CL E G H	132158	24247	OMIM:220120	D-GLYCERIC ACIDURIA			6
HP:0002795	HP:0002835	Aspiration	1	GM2A CL E G H	2760	4367	OMIM:272750	Gm2-Gangliosidosis, ab variant	.		69
HP:0002795	HP:0002093	Respiratory insufficiency	1	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome			3
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome			3
HP:0002795	HP:0002093	Respiratory insufficiency	1	GMPPA CL E G H	29926	22923	OMIM:615510	Alacrima, achalasia, and mental retardation syndrome			24
HP:0002795	HP:0002093	Respiratory insufficiency	1	GMPPA CL E G H	29926	22923	ORPHA:869	Triple A syndrome	HP:0040283 - Occasional		24
HP:0002795	HP:0002093	Respiratory insufficiency	1	GMPPB CL E G H	29925	22932	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional		34
HP:0002795	HP:0002093	Respiratory insufficiency	1	GMPPB CL E G H	29925	22932	ORPHA:363623	GMPPB-related limb-girdle muscular dystrophy R19	HP:0040283 - Occasional		34
HP:0002795	HP:0002093	Respiratory insufficiency	1	GMPPB CL E G H	29925	22932	OMIM:615352	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14	HP:0040283 - Occasional		34
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	GNA11 CL E G H	2767	4379	ORPHA:428	Autosomal dominant hypocalcemia	HP:0040282 - Frequent		16
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	GNAI3 CL E G H	2773	4387	ORPHA:137888	Auriculocondylar syndrome			2
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	GNAI3 CL E G H	2773	4387	OMIM:602483	Auriculocondylar syndrome 1			2
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	GNAQ CL E G H	2776	4390	ORPHA:624	Familial multiple nevi flammei			7
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	GNAQ CL E G H	2776	4390	ORPHA:3205	Sturge-Weber syndrome			7
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A			101
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	GNAS CL E G H	2778	4392	ORPHA:94089	Pseudohypoparathyroidism type 1B			101
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C			101
HP:0002795	HP:0002099	Asthma	1	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42			12
HP:0002795	HP:0030829	Abnormal breath sound	1	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42			12
HP:0002795	HP:0002093	Respiratory insufficiency	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0002795	HP:0002099	Asthma	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0002795	HP:0002835	Aspiration	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria			173
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA			173
HP:0002795	HP:0006536	Airway obstruction	1	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria			173
HP:0002795	HP:0002093	Respiratory insufficiency	1	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II			240
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II			240
HP:0002795	HP:0030829	Abnormal breath sound	1	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II			240
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II			240
HP:0002795	HP:0002099	Asthma	1	GP1BA CL E G H	2811	4439	ORPHA:274	Bernard-Soulier syndrome	HP:0040284 - Very rare		23
HP:0002795	HP:0002099	Asthma	1	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		8
HP:0002795	HP:0006536	Airway obstruction	1	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome			8
HP:0002795	HP:0002099	Asthma	1	GP1BB CL E G H	2812	4440	ORPHA:274	Bernard-Soulier syndrome	HP:0040284 - Very rare		8
HP:0002795	HP:0002099	Asthma	1	GP9 CL E G H	2815	4444	ORPHA:274	Bernard-Soulier syndrome	HP:0040284 - Very rare		21
HP:0002795	HP:0002093	Respiratory insufficiency	1	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0002795	HP:0002093	Respiratory insufficiency	1	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	GPHN CL E G H	10243	15465	OMIM:149400	Hyperekplexia 1			18
HP:0002795	HP:0002835	Aspiration	1	GPHN CL E G H	10243	15465	OMIM:149400	Hyperekplexia 1	.		18
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly			5
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	GPR101 CL E G H	83550	14963	OMIM:300942	Chromosome Xq26.3 duplication syndrome			5
HP:0002795	HP:0002093	Respiratory insufficiency	1	GPX4 CL E G H	2879	4556	ORPHA:93317	Spondylometaphyseal dysplasia, Sedaghatian type	HP:0040282 - Frequent		3
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
HP:0002795	HP:0002835	Aspiration	1	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7	HP:0040283 - Occasional
HP:0002795	HP:0002099	Asthma	1	GRHL2 CL E G H	79977	2799	OMIM:616029	Ectodermal dysplasia/short stature syndrome	HP:0040283 - Occasional		33
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	GRIK2 CL E G H	2898	4580	OMIM:619580	NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS			32
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	GRIN1 CL E G H	2902	4584	OMIM:619814	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 101; DEE101			108
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	GRIN2A CL E G H	2903	4585	ORPHA:1945	Rolandic epilepsy			434
HP:0002795	HP:0002093	Respiratory insufficiency	1	GRM7 CL E G H	2917	4599	OMIM:618922	NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA			5
HP:0002795	HP:0002835	Aspiration	1	GRM7 CL E G H	2917	4599	OMIM:618922	NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA			5
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis			53
HP:0002795	HP:0002099	Asthma	1	GSTM3 CL E G H	2947	4635	ORPHA:586	Cystic fibrosis			1
HP:0002795	HP:0006536	Airway obstruction	1	GSTM3 CL E G H	2947	4635	ORPHA:586	Cystic fibrosis			1
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	GSTM3 CL E G H	2947	4635	ORPHA:586	Cystic fibrosis			1
HP:0002795	HP:0025427	Abnormal bronchus physiology	1	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy			2
HP:0002795	HP:0025427	Abnormal bronchus physiology	1	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy			3
HP:0002795	HP:0002093	Respiratory insufficiency	1	GTPBP3 CL E G H	84705	14880	ORPHA:444013	Combined oxidative phosphorylation defect type 23			30
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	GTPBP3 CL E G H	84705	14880	ORPHA:444013	Combined oxidative phosphorylation defect type 23			30
HP:0002795	HP:0030829	Abnormal breath sound	1	GTPBP3 CL E G H	84705	14880	ORPHA:444013	Combined oxidative phosphorylation defect type 23			30
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII			54
HP:0002795	HP:0006536	Airway obstruction	1	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII			54
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	GYG1 CL E G H	2992	4699	ORPHA:263297	Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency			18
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	GZF1 CL E G H	64412	15808	OMIM:617662	Joint laxity, short stature, and myopia
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0002795	HP:0006528	Chronic lung disease	1	HABP2 CL E G H	3026	4798	ORPHA:319487	Familial papillary or follicular thyroid carcinoma	HP:0040283 - Occasional		58
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	HABP2 CL E G H	3026	4798	OMIM:188050	Thrombophiliavenous thromboembolism, included			58
HP:0002795	HP:0002093	Respiratory insufficiency	1	HACD1 CL E G H	9200	9639	OMIM:619967				2
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	HACD1 CL E G H	9200	9639	OMIM:619967				2
HP:0002795	HP:0002093	Respiratory insufficiency	1	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy			2
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		2
HP:0002795	HP:0012415	Abnormal blood gas level	1	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy			2
HP:0002795	HP:0002093	Respiratory insufficiency	1	HADHA CL E G H	3030	4801	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040283 - Occasional		99
HP:0002795	HP:0002093	Respiratory insufficiency	1	HADHA CL E G H	3030	4801	OMIM:609015	Mitochondrial trifunctional protein deficiency	.		99
HP:0002795	HP:0002093	Respiratory insufficiency	1	HADHB CL E G H	3032	4803	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040283 - Occasional		60
HP:0002795	HP:0002093	Respiratory insufficiency	1	HADHB CL E G H	3032	4803	OMIM:609015	Mitochondrial trifunctional protein deficiency	.		60
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	HBB CL E G H	3043	4827	ORPHA:231222	Beta-thalassemia intermedia			580
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major			580
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia			580
HP:0002795	HP:0012415	Abnormal blood gas level	1	HBB CL E G H	3043	4827	ORPHA:232	Sickle cell anemia			580
HP:0002795	HP:0012415	Abnormal blood gas level	1	HBB CL E G H	3043	4827	OMIM:603903	Sickle cell anemia			580
HP:0002795	HP:0002093	Respiratory insufficiency	1	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome			11
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome			11
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	HDAC4 CL E G H	9759	14063	OMIM:619797	NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF			33
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	HEPHL1 CL E G H	341208	30477	OMIM:261990	PILI TORTI AND DEVELOPMENTAL DELAY
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0002795	HP:0002093	Respiratory insufficiency	1	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040281 - Very frequent		10
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	HES7 CL E G H	84667	15977	OMIM:613686	Spondylocostal dysostosis 4, autosomal recessive			10
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	HEY2 CL E G H	23493	4881	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection
HP:0002795	HP:0002099	Asthma	1	HFE CL E G H	3077	4886	ORPHA:586	Cystic fibrosis			38
HP:0002795	HP:0006536	Airway obstruction	1	HFE CL E G H	3077	4886	ORPHA:586	Cystic fibrosis			38
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	HFE CL E G H	3077	4886	ORPHA:586	Cystic fibrosis			38
HP:0002795	HP:0002093	Respiratory insufficiency	1	HIBCH CL E G H	26275	4908	ORPHA:88639	Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency	HP:0040283 - Occasional		32
HP:0002795	HP:0002099	Asthma	1	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		3
HP:0002795	HP:0006536	Airway obstruction	1	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome			3
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease			4
HP:0002795	HP:0012735	Cough	1	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		4
HP:0002795	HP:0002093	Respiratory insufficiency	1	HLA-B CL E G H	3106	4932	ORPHA:29207	Reactive arthritis	HP:0040283 - Occasional		4
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	HLA-B CL E G H	3106	4932	ORPHA:36426	Stevens-Johnson syndrome			4
HP:0002795	HP:0012735	Cough	1	HLA-B CL E G H	3106	4932	ORPHA:36426	Stevens-Johnson syndrome	HP:0040283 - Occasional		4
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	HLA-B CL E G H	3106	4932	ORPHA:36426	Stevens-Johnson syndrome			4
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	HLA-B CL E G H	3106	4932	ORPHA:3287	Takayasu arteritis	HP:0040282 - Frequent		4
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	HLA-B CL E G H	3106	4932	ORPHA:3287	Takayasu arteritis			4
HP:0002795	HP:0002093	Respiratory insufficiency	1	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis	HP:0040282 - Frequent
HP:0002795	HP:0006536	Airway obstruction	1	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis
HP:0002795	HP:0012735	Cough	1	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis	HP:0040282 - Frequent
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis
HP:0002795	HP:0002093	Respiratory insufficiency	1	HLA-DPB1 CL E G H	3115	4940	ORPHA:133	Chronic beryllium disease	HP:0040282 - Frequent		1
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	HLA-DPB1 CL E G H	3115	4940	ORPHA:133	Chronic beryllium disease			1
HP:0002795	HP:0006536	Airway obstruction	1	HLA-DPB1 CL E G H	3115	4940	ORPHA:133	Chronic beryllium disease			1
HP:0002795	HP:0012735	Cough	1	HLA-DPB1 CL E G H	3115	4940	ORPHA:133	Chronic beryllium disease	HP:0040282 - Frequent		1
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	HLA-DPB1 CL E G H	3115	4940	ORPHA:133	Chronic beryllium disease	HP:0040282 - Frequent		1
HP:0002795	HP:0002093	Respiratory insufficiency	1	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis	HP:0040282 - Frequent		1
HP:0002795	HP:0006536	Airway obstruction	1	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis			1
HP:0002795	HP:0012735	Cough	1	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis	HP:0040282 - Frequent		1
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis			1
HP:0002795	HP:0012735	Cough	1	HLA-DQA1 CL E G H	3117	4942	ORPHA:930	Idiopathic achalasia	HP:0040282 - Frequent
HP:0002795	HP:0030829	Abnormal breath sound	1	HLA-DQA1 CL E G H	3117	4942	ORPHA:930	Idiopathic achalasia
HP:0002795	HP:0012735	Cough	1	HLA-DQB1 CL E G H	3119	4944	ORPHA:930	Idiopathic achalasia	HP:0040282 - Frequent
HP:0002795	HP:0030829	Abnormal breath sound	1	HLA-DQB1 CL E G H	3119	4944	ORPHA:930	Idiopathic achalasia
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:747	Autoimmune pulmonary alveolar proteinosis			2
HP:0002795	HP:0012415	Abnormal blood gas level	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:747	Autoimmune pulmonary alveolar proteinosis			2
HP:0002795	HP:0012735	Cough	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:747	Autoimmune pulmonary alveolar proteinosis	HP:0040283 - Occasional		2
HP:0002795	HP:0030829	Abnormal breath sound	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:747	Autoimmune pulmonary alveolar proteinosis			2
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:747	Autoimmune pulmonary alveolar proteinosis			2
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:220393	Diffuse cutaneous systemic sclerosis			2
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:220393	Diffuse cutaneous systemic sclerosis			2
HP:0002795	HP:0012735	Cough	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		2
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:220402	Limited cutaneous systemic sclerosis			2
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis			2
HP:0002795	HP:0006536	Airway obstruction	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis			2
HP:0002795	HP:0012735	Cough	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis	HP:0040282 - Frequent		2
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1			2
HP:0002795	HP:0012415	Abnormal blood gas level	1	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1			2
HP:0002795	HP:0012735	Cough	1	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1	.		2
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1			2
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1			2
HP:0002795	HP:0032933	Airway hyperresponsiveness	1	HLA-G CL E G H	3135	4964	OMIM:600807	Asthma, susceptibility to
HP:0002795	HP:0002099	Asthma	1	HLA-G CL E G H	3135	4964	OMIM:600807	Asthma, susceptibility to	.
HP:0002795	HP:0025427	Abnormal bronchus physiology	1	HLA-G CL E G H	3135	4964	OMIM:600807	Asthma, susceptibility to
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	HLCS CL E G H	3141	4976	ORPHA:79242	Holocarboxylase synthetase deficiency			148
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	HLCS CL E G H	3141	4976	OMIM:253270	Holocarboxylase synthetase deficiency			148
HP:0002795	HP:0002093	Respiratory insufficiency	1	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria	HP:0040283 - Occasional		81
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria	HP:0040283 - Occasional		81
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	HMBS CL E G H	3145	4982	OMIM:176000	Porphyria, acute intermittent			81
HP:0002795	HP:0002099	Asthma	1	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional		2
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria			35
HP:0002795	HP:0002099	Asthma	1	HMOX1 CL E G H	3162	5013	ORPHA:586	Cystic fibrosis			3
HP:0002795	HP:0006536	Airway obstruction	1	HMOX1 CL E G H	3162	5013	ORPHA:586	Cystic fibrosis			3
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	HMOX1 CL E G H	3162	5013	ORPHA:586	Cystic fibrosis			3
HP:0002795	HP:0006536	Airway obstruction	1	HMOX1 CL E G H	3162	5013	OMIM:606963	Pulmonary disease, chronic obstructive			3
HP:0002795	HP:0032933	Airway hyperresponsiveness	1	HNMT CL E G H	3176	5028	OMIM:600807	Asthma, susceptibility to			3
HP:0002795	HP:0002099	Asthma	1	HNMT CL E G H	3176	5028	OMIM:600807	Asthma, susceptibility to	.		3
HP:0002795	HP:0025427	Abnormal bronchus physiology	1	HNMT CL E G H	3176	5028	OMIM:600807	Asthma, susceptibility to			3
HP:0002795	HP:0002093	Respiratory insufficiency	1	HNRNPA1 CL E G H	3178	5031	ORPHA:803	Amyotrophic lateral sclerosis			31
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	HNRNPA1 CL E G H	3178	5031	ORPHA:803	Amyotrophic lateral sclerosis			31
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	HNRNPA1 CL E G H	3178	5031	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040283 - Occasional		31
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	HNRNPA2B1 CL E G H	3181	5033	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040283 - Occasional		5
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion			8
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation			8
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	HOXA1 CL E G H	3198	5099	OMIM:601536	ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME; ABDS			34
HP:0002795	HP:0002093	Respiratory insufficiency	1	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	HPS1 CL E G H	3257	5163	OMIM:203300	Hermansky-Pudlak syndrome 1			121
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	HPS4 CL E G H	89781	15844	OMIM:614073	Hermansky-Pudlak syndrome 4			123
HP:0002795	HP:0002093	Respiratory insufficiency	1	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome	.		113
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome			113
HP:0002795	HP:0002093	Respiratory insufficiency	1	HSD3B2 CL E G H	3284	5218	ORPHA:90791	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency			34
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	HSPD1 CL E G H	3329	5261	OMIM:612233	Leukodystrophy, hypomyelinating, 4			46
HP:0002795	HP:0002093	Respiratory insufficiency	1	HSPG2 CL E G H	3339	5273	ORPHA:1865	Dyssegmental dysplasia, Silverman-Handmaker type	HP:0040283 - Occasional		345
HP:0002795	HP:0002093	Respiratory insufficiency	1	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040283 - Occasional		345
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome			345
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome			345
HP:0002795	HP:0002093	Respiratory insufficiency	1	HTRA2 CL E G H	27429	14348	OMIM:617248	3-methylglutaconic aciduria, type VIII			39
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	HTRA2 CL E G H	27429	14348	OMIM:617248	3-methylglutaconic aciduria, type VIII			39
HP:0002795	HP:0002093	Respiratory insufficiency	1	HYDIN CL E G H	54768	19368	OMIM:608647	Ciliary dyskinesia, primary, 5			21
HP:0002795	HP:0012261	Abnormal respiratory motile cilium physiology	1	HYDIN CL E G H	54768	19368	OMIM:608647	Ciliary dyskinesia, primary, 5			21
HP:0002795	HP:0002093	Respiratory insufficiency	1	HYDIN CL E G H	54768	19368	ORPHA:244	Primary ciliary dyskinesia			21
HP:0002795	HP:0006536	Airway obstruction	1	HYDIN CL E G H	54768	19368	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		21
HP:0002795	HP:0012735	Cough	1	HYDIN CL E G H	54768	19368	ORPHA:244	Primary ciliary dyskinesia			21
HP:0002795	HP:0030829	Abnormal breath sound	1	HYDIN CL E G H	54768	19368	ORPHA:244	Primary ciliary dyskinesia			21
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	HYLS1 CL E G H	219844	26558	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		31
HP:0002795	HP:0002093	Respiratory insufficiency	1	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0002795	HP:0002093	Respiratory insufficiency	1	IBA57 CL E G H	200205	27302	OMIM:615330	Multiple mitochondrial dysfunctions syndrome 3	.		16
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	ICOS CL E G H	29851	5351	ORPHA:1572	Common variable immunodeficiency			32
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria			15
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form			86
HP:0002795	HP:0006536	Airway obstruction	1	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form			86
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form			86
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form			86
HP:0002795	HP:0006536	Airway obstruction	1	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form			86
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form			86
HP:0002795	HP:0002099	Asthma	1	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II	.		86
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II			86
HP:0002795	HP:0006536	Airway obstruction	1	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II			86
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome			115
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome			115
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	IDUA CL E G H	3425	5391	OMIM:607016	Scheie syndrome			115
HP:0002795	HP:0002093	Respiratory insufficiency	1	IFIH1 CL E G H	64135	18873	OMIM:619773	IMMUNODEFICIENCY 95; IMD95			28
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	IFIH1 CL E G H	64135	18873	OMIM:619773	IMMUNODEFICIENCY 95; IMD95			28
HP:0002795	HP:0002093	Respiratory insufficiency	1	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex			23
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex			23
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease			60
HP:0002795	HP:0025427	Abnormal bronchus physiology	1	IFNGR1 CL E G H	3459	5439	OMIM:209950	Immunodeficiency 27A, mycobacteriosis, AR			60
HP:0002795	HP:0002093	Respiratory insufficiency	1	IFT140 CL E G H	9742	29077	ORPHA:474	Jeune syndrome	HP:0040282 - Frequent		148
HP:0002795	HP:0002099	Asthma	1	IFT172 CL E G H	26160	30391	OMIM:619471	BARDET-BIEDL SYNDROME 20; BBS20			48
HP:0002795	HP:0002093	Respiratory insufficiency	1	IFT172 CL E G H	26160	30391	ORPHA:474	Jeune syndrome	HP:0040282 - Frequent		48
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	IFT52 CL E G H	51098	15901	OMIM:617102	Short-Rib thoracic dysplasia 16 with or without polydactyly			4
HP:0002795	HP:0002093	Respiratory insufficiency	1	IFT80 CL E G H	57560	29262	ORPHA:474	Jeune syndrome	HP:0040282 - Frequent		65
HP:0002795	HP:0002093	Respiratory insufficiency	1	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040281 - Very frequent		65
HP:0002795	HP:0002093	Respiratory insufficiency	1	IFT81 CL E G H	28981	14313	OMIM:617895	Short-Rib thoracic dysplasia 19 with or without polydactyly			2
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	IFT81 CL E G H	28981	14313	OMIM:617895	Short-Rib thoracic dysplasia 19 with or without polydactyly			2
HP:0002795	HP:0002099	Asthma	1	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional		9
HP:0002795	HP:0002099	Asthma	1	IGHG2 CL E G H	3501	5526	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency			1
HP:0002795	HP:0012735	Cough	1	IGHM CL E G H	3507	5541	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040281 - Very frequent		7
HP:0002795	HP:0002093	Respiratory insufficiency	1	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1			209
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1			209
HP:0002795	HP:0030829	Abnormal breath sound	1	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1			209
HP:0002795	HP:0002099	Asthma	1	IGKC CL E G H	3514	5716	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency			5
HP:0002795	HP:0012735	Cough	1	IGLL1 CL E G H	3543	5870	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040281 - Very frequent		3
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti			52
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	IKZF1 CL E G H	10320	13176	ORPHA:36426	Stevens-Johnson syndrome			8
HP:0002795	HP:0012735	Cough	1	IKZF1 CL E G H	10320	13176	ORPHA:36426	Stevens-Johnson syndrome	HP:0040283 - Occasional		8
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	IKZF1 CL E G H	10320	13176	ORPHA:36426	Stevens-Johnson syndrome			8
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease			2
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	IL12B CL E G H	3593	5970	ORPHA:3287	Takayasu arteritis	HP:0040282 - Frequent		31
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	IL12B CL E G H	3593	5970	ORPHA:3287	Takayasu arteritis			31
HP:0002795	HP:0032933	Airway hyperresponsiveness	1	IL13 CL E G H	3596	5973	OMIM:600807	Asthma, susceptibility to			2
HP:0002795	HP:0002099	Asthma	1	IL13 CL E G H	3596	5973	OMIM:600807	Asthma, susceptibility to	.		2
HP:0002795	HP:0025427	Abnormal bronchus physiology	1	IL13 CL E G H	3596	5973	OMIM:600807	Asthma, susceptibility to			2
HP:0002795	HP:0012735	Cough	1	IL17F CL E G H	112744	16404	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040283 - Occasional		14
HP:0002795	HP:0012735	Cough	1	IL17RA CL E G H	23765	5985	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040283 - Occasional		196
HP:0002795	HP:0012735	Cough	1	IL17RC CL E G H	84818	18358	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040283 - Occasional		4
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	IL1RN CL E G H	3557	6000	OMIM:612852	Interleukin 1 receptor antagonist deficiency			40
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease			1
HP:0002795	HP:0012735	Cough	1	IL2RG CL E G H	3561	6010	ORPHA:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency	HP:0040282 - Frequent		48
HP:0002795	HP:0002099	Asthma	1	IL4R CL E G H	3566	6015	OMIM:147050	Ige responsiveness, atopic	.		3
HP:0002795	HP:0002099	Asthma	1	IL6ST CL E G H	3572	6021	OMIM:619752	HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0002795	HP:0002099	Asthma	1	IL6ST CL E G H	3572	6021	OMIM:619750	IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	IL6ST CL E G H	3572	6021	OMIM:619751	STUVE-WIEDEMANN SYNDROME 2; STWS2
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	IL6ST CL E G H	3572	6021	OMIM:619751	STUVE-WIEDEMANN SYNDROME 2; STWS2
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	INPP5E CL E G H	56623	21474	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		111
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1			111
HP:0002795	HP:0005957	Breathing dysregulation	1	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1			111
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040281 - Very frequent		111
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	INPP5E CL E G H	56623	21474	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040281 - Very frequent		111
HP:0002795	HP:0002093	Respiratory insufficiency	1	INPP5K CL E G H	51763	33882	OMIM:617404	Muscular dystrophy, congenital, with cataracts and intellectual disability	HP:0040283 - Occasional		7
HP:0002795	HP:0002093	Respiratory insufficiency	1	INPPL1 CL E G H	3636	6080	ORPHA:2746	Opsismodysplasia	HP:0040281 - Very frequent		18
HP:0002795	HP:0002093	Respiratory insufficiency	1	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA			18
HP:0002795	HP:0002093	Respiratory insufficiency	1	INVS CL E G H	27130	17870	OMIM:602088	Nephronophthisis 2	.		106
HP:0002795	HP:0002099	Asthma	1	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	IRAK1 CL E G H	3654	6112	ORPHA:93552	Pediatric systemic lupus erythematosus
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	IRF2BP2 CL E G H	359948	21729	ORPHA:520	Acute promyelocytic leukemia			4
HP:0002795	HP:0012735	Cough	1	IRF2BP2 CL E G H	359948	21729	ORPHA:520	Acute promyelocytic leukemia			4
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	IRF2BP2 CL E G H	359948	21729	ORPHA:1572	Common variable immunodeficiency			4
HP:0002795	HP:0002093	Respiratory insufficiency	1	IRF4 CL E G H	3662	6119	ORPHA:3452	Whipple disease	HP:0040283 - Occasional		1
HP:0002795	HP:0012735	Cough	1	IRF4 CL E G H	3662	6119	ORPHA:3452	Whipple disease	HP:0040283 - Occasional		1
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	IRF5 CL E G H	3663	6120	ORPHA:220393	Diffuse cutaneous systemic sclerosis			4
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	IRF5 CL E G H	3663	6120	ORPHA:220393	Diffuse cutaneous systemic sclerosis			4
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	IRF5 CL E G H	3663	6120	ORPHA:220402	Limited cutaneous systemic sclerosis			4
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	IRF6 CL E G H	3664	6121	ORPHA:141291	Cleft lip and alveolus	HP:0040282 - Frequent		99
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	ISCU CL E G H	23479	29882	OMIM:255125	Myopathy with exercise intolerance, Swedish type			19
HP:0002795	HP:0006528	Chronic lung disease	1	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD			3
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD			3
HP:0002795	HP:0006528	Chronic lung disease	1	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency	HP:0040281 - Very frequent		3
HP:0002795	HP:0002093	Respiratory insufficiency	1	ITGA3 CL E G H	3675	6139	OMIM:614748	Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital			6
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	ITGA3 CL E G H	3675	6139	OMIM:614748	Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital			6
HP:0002795	HP:0002093	Respiratory insufficiency	1	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy			127
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		127
HP:0002795	HP:0012415	Abnormal blood gas level	1	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy			127
HP:0002795	HP:0030829	Abnormal breath sound	1	JAG1 CL E G H	182	6188	OMIM:619574	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH			257
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	JAG2 CL E G H	3714	6189	OMIM:619566	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27			1
HP:0002795	HP:0002099	Asthma	1	JAK1 CL E G H	3716	6190	OMIM:618999	AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE			12
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	JAK2 CL E G H	3717	6192	OMIM:133100	Erythrocytosis, familial, 1			57
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	JAK2 CL E G H	3717	6192	ORPHA:71493	Familial thrombocytosis			57
HP:0002795	HP:0002093	Respiratory insufficiency	1	JAK2 CL E G H	3717	6192	ORPHA:729	Polycythemia vera	HP:0040282 - Frequent		57
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	JAK2 CL E G H	3717	6192	ORPHA:729	Polycythemia vera			57
HP:0002795	HP:0002099	Asthma	1	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		2
HP:0002795	HP:0006536	Airway obstruction	1	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome			2
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	JPH2 CL E G H	57158	14202	OMIM:613873	Cardiomyopathy, familial hypertrophic, 17			111
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	JRK CL E G H	8629	6199	ORPHA:64280	Childhood absence epilepsy
HP:0002795	HP:0002093	Respiratory insufficiency	1	JUP CL E G H	3728	6207	ORPHA:158687	Lethal acantholytic erosive disorder			222
HP:0002795	HP:0002093	Respiratory insufficiency	1	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0002795	HP:0002093	Respiratory insufficiency	1	KAT6A CL E G H	7994	13013	ORPHA:457193	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome			34
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome			141
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	KATNB1 CL E G H	10300	6217	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type			10
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	KATNIP CL E G H	23247	29068	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent
HP:0002795	HP:0002093	Respiratory insufficiency	1	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy			80
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy			80
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy			80
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	KCNA1 CL E G H	3736	6218	ORPHA:37612	Episodic ataxia type 1			145
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	KCNE3 CL E G H	10008	6243	ORPHA:681	Hypokalemic periodic paralysis			73
HP:0002795	HP:0002093	Respiratory insufficiency	1	KCNJ10 CL E G H	3766	6256	ORPHA:705	Pendred syndrome	HP:0040283 - Occasional		121
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	KCNJ11 CL E G H	3767	6257	ORPHA:79644	Autosomal recessive hyperinsulinism due to Kir6.2 deficiency			127
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	KCNJ18 CL E G H	100134444	39080	ORPHA:79102	Thyrotoxic periodic paralysis			10
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	KCNJ5 CL E G H	3762	6266	OMIM:613485	Long QT syndrome 13			128
HP:0002795	HP:0002093	Respiratory insufficiency	1	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome	HP:0040282 - Frequent		3
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome			3
HP:0002795	HP:0006536	Airway obstruction	1	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome			3
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	KCNK3 CL E G H	3777	6278	OMIM:615344	Pulmonary hypertension, primary, 4			7
HP:0002795	HP:0002099	Asthma	1	KCNN4 CL E G H	3783	6293	ORPHA:586	Cystic fibrosis			3
HP:0002795	HP:0006536	Airway obstruction	1	KCNN4 CL E G H	3783	6293	ORPHA:586	Cystic fibrosis			3
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	KCNN4 CL E G H	3783	6293	ORPHA:586	Cystic fibrosis			3
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	KCNN4 CL E G H	3783	6293	ORPHA:3202	Dehydrated hereditary stomatocytosis			3
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	KCNQ2 CL E G H	3785	6296	ORPHA:306	Benign familial infantile epilepsy			528
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	KCNQ2 CL E G H	3785	6296	ORPHA:1949	Benign familial neonatal epilepsy			528
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	KCNQ2 CL E G H	3785	6296	ORPHA:439218	KCNQ2-related epileptic encephalopathy			528
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	KCNQ3 CL E G H	3786	6297	ORPHA:306	Benign familial infantile epilepsy			302
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	KCNQ3 CL E G H	3786	6297	ORPHA:1949	Benign familial neonatal epilepsy			302
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	KCNT1 CL E G H	57582	18865	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy			321
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	KIAA0319L CL E G H	79932	30071	ORPHA:220402	Limited cutaneous systemic sclerosis
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	KIAA0586 CL E G H	9786	19960	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		24
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	KIAA0586 CL E G H	9786	19960	OMIM:616490	Joubert syndrome 23			24
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy			24
HP:0002795	HP:0006528	Chronic lung disease	1	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional		24
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	KIAA0753 CL E G H	9851	29110	ORPHA:2754	Orofaciodigital syndrome type 6			4
HP:0002795	HP:0002093	Respiratory insufficiency	1	KIAA0753 CL E G H	9851	29110	OMIM:619479	SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21			4
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	KIF20A CL E G H	10112	9787	ORPHA:75249	Familial isolated restrictive cardiomyopathy
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	KIF20A CL E G H	10112	9787	ORPHA:75249	Familial isolated restrictive cardiomyopathy
HP:0002795	HP:0002093	Respiratory insufficiency	1	KIF22 CL E G H	3835	6391	ORPHA:93360	Spondyloepimetaphyseal dysplasia with multiple dislocations			14
HP:0002795	HP:0006536	Airway obstruction	1	KIF22 CL E G H	3835	6391	ORPHA:93360	Spondyloepimetaphyseal dysplasia with multiple dislocations	HP:0040283 - Occasional		14
HP:0002795	HP:0030829	Abnormal breath sound	1	KIF22 CL E G H	3835	6391	ORPHA:93360	Spondyloepimetaphyseal dysplasia with multiple dislocations			14
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	KIF5A CL E G H	3798	6323	OMIM:617235	Myoclonus, intractable, neonatal			93
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	KIF7 CL E G H	374654	30497	ORPHA:2754	Orofaciodigital syndrome type 6			167
HP:0002795	HP:0002093	Respiratory insufficiency	1	KIT CL E G H	3815	6342	ORPHA:280785	Bullous diffuse cutaneous mastocytosis			327
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	KIT CL E G H	3815	6342	ORPHA:79455	Cutaneous mastocytoma			327
HP:0002795	HP:0002093	Respiratory insufficiency	1	KLHL40 CL E G H	131377	30372	OMIM:615348	NEMALINE MYOPATHY 8; NEM8			28
HP:0002795	HP:0002093	Respiratory insufficiency	1	KLHL40 CL E G H	131377	30372	ORPHA:171430	Severe congenital nemaline myopathy			28
HP:0002795	HP:0002093	Respiratory insufficiency	1	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy			13
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy			13
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy			13
HP:0002795	HP:0002093	Respiratory insufficiency	1	KLHL41 CL E G H	10324	16905	ORPHA:171433	Intermediate nemaline myopathy			13
HP:0002795	HP:0002093	Respiratory insufficiency	1	KLHL41 CL E G H	10324	16905	OMIM:615731	Nemaline myopathy 9	HP:0040283 - Occasional		13
HP:0002795	HP:0002093	Respiratory insufficiency	1	KLHL41 CL E G H	10324	16905	ORPHA:171430	Severe congenital nemaline myopathy			13
HP:0002795	HP:0002093	Respiratory insufficiency	1	KLHL41 CL E G H	10324	16905	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent		13
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	KLHL41 CL E G H	10324	16905	ORPHA:171436	Typical nemaline myopathy			13
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	KLHL7 CL E G H	55975	15646	OMIM:617055	Crisponi/cold-Induced sweating syndrome 3			42
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease
HP:0002795	HP:0002093	Respiratory insufficiency	1	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies			1
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	KRAS CL E G H	3845	6407	ORPHA:2396	Encephalocraniocutaneous lipomatosis			196
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	KRT16 CL E G H	3868	6423	ORPHA:2309	Pachyonychia congenita			27
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	KRT17 CL E G H	3872	6427	ORPHA:2309	Pachyonychia congenita			23
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	KRT18 CL E G H	3875	6430	OMIM:215600	Cirrhosis, familial			19
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	KRT6A CL E G H	3853	6443	ORPHA:2309	Pachyonychia congenita			41
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	KRT6B CL E G H	3854	6444	ORPHA:2309	Pachyonychia congenita			4
HP:0002795	HP:0005957	Breathing dysregulation	1	KYNU CL E G H	8942	6469	ORPHA:79155	Hydroxykynureninuria	HP:0040282 - Frequent		5
HP:0002795	HP:0002093	Respiratory insufficiency	1	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy	HP:0040284 - Very rare		411
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy			411
HP:0002795	HP:0002835	Aspiration	1	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy	HP:0040282 - Frequent		411
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy			411
HP:0002795	HP:0002093	Respiratory insufficiency	1	LAMA2 CL E G H	3908	6482	OMIM:607855	Muscular dystrophy, congenital, merosin deficient or partially deficient			411
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	LAMA2 CL E G H	3908	6482	OMIM:607855	Muscular dystrophy, congenital, merosin deficient or partially deficient			411
HP:0002795	HP:0002093	Respiratory insufficiency	1	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa			116
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa			116
HP:0002795	HP:0030829	Abnormal breath sound	1	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa			116
HP:0002795	HP:0002093	Respiratory insufficiency	1	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040282 - Frequent		92
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes			92
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes			92
HP:0002795	HP:0002093	Respiratory insufficiency	1	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa			167
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa			167
HP:0002795	HP:0030829	Abnormal breath sound	1	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa			167
HP:0002795	HP:0002093	Respiratory insufficiency	1	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa			135
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa			135
HP:0002795	HP:0030829	Abnormal breath sound	1	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa			135
HP:0002795	HP:0002093	Respiratory insufficiency	1	LAMP2 CL E G H	3920	6501	ORPHA:34587	Glycogen storage disease due to LAMP-2 deficiency			211
HP:0002795	HP:0002093	Respiratory insufficiency	1	LARGE1 CL E G H	9215	6511	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional		136
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	LARP7 CL E G H	51574	24912	ORPHA:319671	Alazami syndrome			16
HP:0002795	HP:0002093	Respiratory insufficiency	1	LARS2 CL E G H	23395	17095	OMIM:617021	Hydrops, lactic acidosis, and sideroblastic anemia	.		54
HP:0002795	HP:0006528	Chronic lung disease	1	LAT CL E G H	27040	18874	OMIM:617514	Immunodeficiency 52			2
HP:0002795	HP:0002093	Respiratory insufficiency	1	LBR CL E G H	3930	6518	ORPHA:779	Reynolds syndrome	HP:0040283 - Occasional		70
HP:0002795	HP:0002093	Respiratory insufficiency	1	LBX1 CL E G H	10660	16960	OMIM:619483	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 3; CCHS3
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	LBX1 CL E G H	10660	16960	OMIM:619483	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 3; CCHS3
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	LDLR CL E G H	3949	6547	ORPHA:391665	Homozygous familial hypercholesterolemia			2157
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	LDLRAP1 CL E G H	26119	18640	ORPHA:391665	Homozygous familial hypercholesterolemia			73
HP:0002795	HP:0002093	Respiratory insufficiency	1	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040281 - Very frequent		13
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	LGI4 CL E G H	163175	18712	ORPHA:2680	Hypomyelination neuropathy-arthrogryposis syndrome			6
HP:0002795	HP:0002093	Respiratory insufficiency	1	LIAS CL E G H	11019	16429	OMIM:614462	Hyperglycinemia, lactic acidosis, and seizures	.		31
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	LIAS CL E G H	11019	16429	OMIM:614462	Hyperglycinemia, lactic acidosis, and seizures			31
HP:0002795	HP:0002099	Asthma	1	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome	HP:0040282 - Frequent		144
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome			144
HP:0002795	HP:0002093	Respiratory insufficiency	1	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome	.		144
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome			144
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome			144
HP:0002795	HP:0002093	Respiratory insufficiency	1	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome	HP:0040282 - Frequent		88
HP:0002795	HP:0002099	Asthma	1	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome	HP:0040283 - Occasional		88
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	LIPT1 CL E G H	51601	29569	ORPHA:255241	Leigh syndrome with leukodystrophy			21
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	LIPT1 CL E G H	51601	29569	OMIM:616299	Lipoyltransferase 1 deficiency			21
HP:0002795	HP:0002093	Respiratory insufficiency	1	LIPT2 CL E G H	387787	37216	OMIM:617668	Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities	.		2
HP:0002795	HP:0002093	Respiratory insufficiency	1	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			645
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			645
HP:0002795	HP:0002093	Respiratory insufficiency	1	LMNA CL E G H	4000	6636	ORPHA:157973	Congenital muscular dystrophy due to LMNA mutation	HP:0040282 - Frequent		645
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	LMNA CL E G H	4000	6636	OMIM:181350	Emery-Dreifuss muscular dystrophy 2, autosomal dominant			645
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome			645
HP:0002795	HP:0006536	Airway obstruction	1	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome			645
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome			645
HP:0002795	HP:0002093	Respiratory insufficiency	1	LMNA CL E G H	4000	6636	OMIM:613205	Muscular dystrophy, congenital, lmna-related			645
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	LMNA CL E G H	4000	6636	OMIM:613205	Muscular dystrophy, congenital, lmna-related			645
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	LMNA CL E G H	4000	6636	OMIM:619793	RESTRICTIVE DERMOPATHY 2; RSDM2			645
HP:0002795	HP:0002093	Respiratory insufficiency	1	LMOD3 CL E G H	56203	6649	OMIM:616165	Nemaline myopathy 10			11
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	LMOD3 CL E G H	56203	6649	OMIM:616165	Nemaline myopathy 10			11
HP:0002795	HP:0002093	Respiratory insufficiency	1	LMOD3 CL E G H	56203	6649	ORPHA:171430	Severe congenital nemaline myopathy			11
HP:0002795	HP:0002093	Respiratory insufficiency	1	LMOD3 CL E G H	56203	6649	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent		11
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	LMOD3 CL E G H	56203	6649	ORPHA:171436	Typical nemaline myopathy			11
HP:0002795	HP:0002099	Asthma	1	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040282 - Frequent		165
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	LONP1 CL E G H	9361	9479	ORPHA:2140	Congenital diaphragmatic hernia			8
HP:0002795	HP:0012415	Abnormal blood gas level	1	LONP1 CL E G H	9361	9479	ORPHA:2140	Congenital diaphragmatic hernia			8
HP:0002795	HP:0002093	Respiratory insufficiency	1	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency			8
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	LOX CL E G H	4015	6664	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			6
HP:0002795	HP:0012735	Cough	1	LPIN2 CL E G H	9663	14450	ORPHA:77297	Majeed syndrome	HP:0040283 - Occasional		186
HP:0002795	HP:0002099	Asthma	1	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8			45
HP:0002795	HP:0006528	Chronic lung disease	1	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8			45
HP:0002795	HP:0002093	Respiratory insufficiency	1	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1
HP:0002795	HP:0002835	Aspiration	1	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1	.
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1
HP:0002795	HP:0012415	Abnormal blood gas level	1	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1
HP:0002795	HP:0002093	Respiratory insufficiency	1	LRP4 CL E G H	4038	6696	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			124
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	LRP4 CL E G H	4038	6696	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			124
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	LRP4 CL E G H	4038	6696	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			124
HP:0002795	HP:0002093	Respiratory insufficiency	1	LRP5 CL E G H	4041	6697	ORPHA:2924	Isolated polycystic liver disease	HP:0040283 - Occasional		125
HP:0002795	HP:0002093	Respiratory insufficiency	1	LRPPRC CL E G H	10128	15714	ORPHA:70472	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type			191
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	LRPPRC CL E G H	10128	15714	ORPHA:70472	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type			191
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	LRPPRC CL E G H	10128	15714	OMIM:220111	Leigh syndrome, french Canadian type			191
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	LRRC32 CL E G H	2615	4161	OMIM:619074	CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY; CPPRDD
HP:0002795	HP:0033036	Decreased nasal nitric oxide	1	LRRC56 CL E G H	115399	25430	OMIM:618254	CILIARY DYSKINESIA, PRIMARY, 39; CILD39
HP:0002795	HP:0006528	Chronic lung disease	1	LRRC56 CL E G H	115399	25430	OMIM:618254	CILIARY DYSKINESIA, PRIMARY, 39; CILD39
HP:0002795	HP:0012735	Cough	1	LRRC56 CL E G H	115399	25430	OMIM:618254	CILIARY DYSKINESIA, PRIMARY, 39; CILD39
HP:0002795	HP:0031416	Abnormal nasal mucus secretion	1	LRRC56 CL E G H	115399	25430	OMIM:618254	CILIARY DYSKINESIA, PRIMARY, 39; CILD39
HP:0002795	HP:0002093	Respiratory insufficiency	1	LRRC56 CL E G H	115399	25430	ORPHA:244	Primary ciliary dyskinesia
HP:0002795	HP:0006536	Airway obstruction	1	LRRC56 CL E G H	115399	25430	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0002795	HP:0012735	Cough	1	LRRC56 CL E G H	115399	25430	ORPHA:244	Primary ciliary dyskinesia
HP:0002795	HP:0030829	Abnormal breath sound	1	LRRC56 CL E G H	115399	25430	ORPHA:244	Primary ciliary dyskinesia
HP:0002795	HP:0012735	Cough	1	LRRC8A CL E G H	56262	19027	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040281 - Very frequent		3
HP:0002795	HP:0002093	Respiratory insufficiency	1	LTBP1 CL E G H	4052	6714	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040282 - Frequent
HP:0002795	HP:0002093	Respiratory insufficiency	1	LTBP3 CL E G H	4054	6716	OMIM:617809	Geleophysic dysplasia 3			12
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	LTBP3 CL E G H	4054	6716	OMIM:617809	Geleophysic dysplasia 3			12
HP:0002795	HP:0002093	Respiratory insufficiency	1	LTBP4 CL E G H	8425	6717	ORPHA:98896	Duchenne muscular dystrophy	HP:0040281 - Very frequent		92
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	LYRM4 CL E G H	57128	21365	OMIM:615595	Combined oxidative phosphorylation deficiency 19			4
HP:0002795	HP:0030829	Abnormal breath sound	1	LYRM4 CL E G H	57128	21365	OMIM:615595	Combined oxidative phosphorylation deficiency 19			4
HP:0002795	HP:0002093	Respiratory insufficiency	1	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8			10
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8			10
HP:0002795	HP:0002093	Respiratory insufficiency	1	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH			5
HP:0002795	HP:0002093	Respiratory insufficiency	1	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH			5
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome			63
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			63
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			63
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			63
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome			63
HP:0002795	HP:0002093	Respiratory insufficiency	1	MAMLD1 CL E G H	10046	2568	ORPHA:456328	X-linked myotubular myopathy-abnormal genitalia syndrome	HP:0040282 - Frequent		5
HP:0002795	HP:0002093	Respiratory insufficiency	1	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy			2
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		2
HP:0002795	HP:0012415	Abnormal blood gas level	1	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy			2
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	MAP3K20 CL E G H	51776	17797	OMIM:617760	Myopathy, centronuclear, 6, with fiber-type disproportion			2
HP:0002795	HP:0030829	Abnormal breath sound	1	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2			11
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	MAPT CL E G H	4137	6893	ORPHA:240103	Progressive supranuclear palsy-corticobasal syndrome			140
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	MAPT CL E G H	4137	6893	ORPHA:240085	Progressive supranuclear palsy-parkinsonism syndrome			140
HP:0002795	HP:0002093	Respiratory insufficiency	1	MARS1 CL E G H	4141	6898	OMIM:615486	Interstitial lung and liver disease	.
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	MARS1 CL E G H	4141	6898	OMIM:615486	Interstitial lung and liver disease
HP:0002795	HP:0012415	Abnormal blood gas level	1	MARS1 CL E G H	4141	6898	OMIM:615486	Interstitial lung and liver disease
HP:0002795	HP:0012735	Cough	1	MARS1 CL E G H	4141	6898	OMIM:615486	Interstitial lung and liver disease	.
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	MAT2A CL E G H	4144	6904	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			13
HP:0002795	HP:0002093	Respiratory insufficiency	1	MATR3 CL E G H	9782	6912	ORPHA:803	Amyotrophic lateral sclerosis			80
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	MATR3 CL E G H	9782	6912	ORPHA:803	Amyotrophic lateral sclerosis			80
HP:0002795	HP:0002093	Respiratory insufficiency	1	MATR3 CL E G H	9782	6912	OMIM:606070	Amyotrophic lateral sclerosis 21			80
HP:0002795	HP:0002835	Aspiration	1	MATR3 CL E G H	9782	6912	OMIM:606070	Amyotrophic lateral sclerosis 21	.		80
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	MATR3 CL E G H	9782	6912	OMIM:606070	Amyotrophic lateral sclerosis 21			80
HP:0002795	HP:0002093	Respiratory insufficiency	1	MATR3 CL E G H	9782	6912	ORPHA:600	Vocal cord and pharyngeal distal myopathy			80
HP:0002795	HP:0002835	Aspiration	1	MATR3 CL E G H	9782	6912	ORPHA:600	Vocal cord and pharyngeal distal myopathy	HP:0040282 - Frequent		80
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	MATR3 CL E G H	9782	6912	ORPHA:600	Vocal cord and pharyngeal distal myopathy			80
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	MCCC1 CL E G H	56922	6936	OMIM:210200	3-Methylcrotonyl-CoA carboxylase 1 deficiency			81
HP:0002795	HP:0002093	Respiratory insufficiency	1	MCCC1 CL E G H	56922	6936	ORPHA:6	3-methylcrotonyl-CoA carboxylase deficiency	HP:0040283 - Occasional		81
HP:0002795	HP:0002093	Respiratory insufficiency	1	MCCC2 CL E G H	64087	6937	ORPHA:6	3-methylcrotonyl-CoA carboxylase deficiency	HP:0040283 - Occasional		77
HP:0002795	HP:0033036	Decreased nasal nitric oxide	1	MCIDAS CL E G H	345643	40050	OMIM:618695	CILIARY DYSKINESIA, PRIMARY, 42; CILD42			13
HP:0002795	HP:0002093	Respiratory insufficiency	1	MCIDAS CL E G H	345643	40050	OMIM:618695	CILIARY DYSKINESIA, PRIMARY, 42; CILD42			13
HP:0002795	HP:0006536	Airway obstruction	1	MCIDAS CL E G H	345643	40050	OMIM:618695	CILIARY DYSKINESIA, PRIMARY, 42; CILD42			13
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	MCIDAS CL E G H	345643	40050	OMIM:618695	CILIARY DYSKINESIA, PRIMARY, 42; CILD42			13
HP:0002795	HP:0002093	Respiratory insufficiency	1	MCIDAS CL E G H	345643	40050	ORPHA:244	Primary ciliary dyskinesia			13
HP:0002795	HP:0006536	Airway obstruction	1	MCIDAS CL E G H	345643	40050	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		13
HP:0002795	HP:0012735	Cough	1	MCIDAS CL E G H	345643	40050	ORPHA:244	Primary ciliary dyskinesia			13
HP:0002795	HP:0030829	Abnormal breath sound	1	MCIDAS CL E G H	345643	40050	ORPHA:244	Primary ciliary dyskinesia			13
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	MCM3AP CL E G H	8888	6946	OMIM:618124	Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development			3
HP:0002795	HP:0002093	Respiratory insufficiency	1	MCM4 CL E G H	4173	6947	OMIM:609981	Immunodeficiency 54	HP:0040283 - Occasional		69
HP:0002795	HP:0002093	Respiratory insufficiency	1	MDFIC CL E G H	29969	28870	OMIM:620014
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	MECP2 CL E G H	4204	6990	ORPHA:3095	Atypical Rett syndrome	HP:0040281 - Very frequent		950
HP:0002795	HP:0002093	Respiratory insufficiency	1	MECP2 CL E G H	4204	6990	OMIM:300673	Encephalopathy, neonatal severe, due to mecp2 mutations	.		950
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	MECP2 CL E G H	4204	6990	OMIM:300673	Encephalopathy, neonatal severe, due to mecp2 mutations			950
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13			950
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	MECP2 CL E G H	4204	6990	OMIM:312750	Rett syndrome			950
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	MECP2 CL E G H	4204	6990	ORPHA:778	Rett syndrome	HP:0040281 - Very frequent		950
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1			228
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome			43
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	MED27 CL E G H	9442	2377	OMIM:619286	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease			281
HP:0002795	HP:0002093	Respiratory insufficiency	1	MEG3 CL E G H	55384	14575	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion			1
HP:0002795	HP:0002093	Respiratory insufficiency	1	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0002795	HP:0002093	Respiratory insufficiency	1	MEGF10 CL E G H	84466	29634	OMIM:614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset	.		158
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	MEGF10 CL E G H	84466	29634	OMIM:614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset			158
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	MEGF10 CL E G H	84466	29634	OMIM:614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset			158
HP:0002795	HP:0002093	Respiratory insufficiency	1	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040281 - Very frequent		45
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	MESP2 CL E G H	145873	29659	OMIM:608681	Spondylocostal dysostosis 2, autosomal recessive			45
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	MFAP5 CL E G H	8076	29673	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			11
HP:0002795	HP:0002093	Respiratory insufficiency	1	MFN2 CL E G H	9927	16877	OMIM:617087	Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B			203
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	MFN2 CL E G H	9927	16877	OMIM:617087	Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B			203
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG			39
HP:0002795	HP:0002093	Respiratory insufficiency	1	MGME1 CL E G H	92667	16205	OMIM:615084	Mitochondrial DNA depletion syndrome 11	.		11
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	MGME1 CL E G H	92667	16205	OMIM:615084	Mitochondrial DNA depletion syndrome 11			11
HP:0002795	HP:0002093	Respiratory insufficiency	1	MGME1 CL E G H	92667	16205	ORPHA:352447	Progressive external ophthalmoplegia-myopathy-emaciation syndrome			11
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	MGME1 CL E G H	92667	16205	ORPHA:352447	Progressive external ophthalmoplegia-myopathy-emaciation syndrome			11
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	MGME1 CL E G H	92667	16205	ORPHA:352447	Progressive external ophthalmoplegia-myopathy-emaciation syndrome			11
HP:0002795	HP:0006536	Airway obstruction	1	MGP CL E G H	4256	7060	OMIM:245150	Keutel syndrome	.		33
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	MGP CL E G H	4256	7060	ORPHA:85202	Keutel syndrome			33
HP:0002795	HP:0002099	Asthma	1	MIA3 CL E G H	375056	24008	OMIM:619269	ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2
HP:0002795	HP:0002093	Respiratory insufficiency	1	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0002795	HP:0030829	Abnormal breath sound	1	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome			57
HP:0002795	HP:0002835	Aspiration	1	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I	.		57
HP:0002795	HP:0002099	Asthma	1	MIF CL E G H	4282	7097	ORPHA:586	Cystic fibrosis			1
HP:0002795	HP:0006536	Airway obstruction	1	MIF CL E G H	4282	7097	ORPHA:586	Cystic fibrosis			1
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	MIF CL E G H	4282	7097	ORPHA:586	Cystic fibrosis			1
HP:0002795	HP:0006528	Chronic lung disease	1	MINPP1 CL E G H	9562	7102	ORPHA:319487	Familial papillary or follicular thyroid carcinoma	HP:0040283 - Occasional		3
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	MINPP1 CL E G H	9562	7102	OMIM:619527	PONTOCEREBELLAR HYPOPLASIA, TYPE 16; PCH16			3
HP:0002795	HP:0030829	Abnormal breath sound	1	MIR140 CL E G H	406932	31527	OMIM:618618	SPONDYLOEPIPHYSEAL DYSPLASIA, NISHIMURA TYPE; SEDN
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	MKS1 CL E G H	54903	7121	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		127
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	MKS1 CL E G H	54903	7121	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040281 - Very frequent		127
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	MLX CL E G H	6945	11645	ORPHA:3287	Takayasu arteritis	HP:0040282 - Frequent
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	MLX CL E G H	6945	11645	ORPHA:3287	Takayasu arteritis
HP:0002795	HP:0002093	Respiratory insufficiency	1	MLYCD CL E G H	23417	7150	OMIM:248360	Malonyl-CoA decarboxylase deficiency			80
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	MMAA CL E G H	166785	18871	OMIM:251100	Methylmalonic aciduria, Cbla type			113
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	MMAB CL E G H	326625	19331	OMIM:251110	Methylmalonic aciduria, Cblb type			127
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC			101
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC			101
HP:0002795	HP:0006536	Airway obstruction	1	MMP1 CL E G H	4312	7155	OMIM:606963	Pulmonary disease, chronic obstructive			6
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	MMUT CL E G H	4594	7526	OMIM:251000	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	MMUT CL E G H	4594	7526	ORPHA:79312	Vitamin B12-unresponsive methylmalonic acidemia type mut-
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	MMUT CL E G H	4594	7526	ORPHA:289916	Vitamin B12-unresponsive methylmalonic acidemia type mut0
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	MOGS CL E G H	7841	24862	OMIM:606056	Congenital disorder of glycosylation, type IIB			37
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG			37
HP:0002795	HP:0002093	Respiratory insufficiency	1	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z			8
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z			8
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	MPC1 CL E G H	51660	21606	OMIM:614741	Mitochondrial pyruvate carrier deficiency			6
HP:0002795	HP:0006536	Airway obstruction	1	MPEG1 CL E G H	219972	29619	OMIM:619223	IMMUNODEFICIENCY 77; IMD77
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	MPL CL E G H	4352	7217	ORPHA:71493	Familial thrombocytosis			97
HP:0002795	HP:0002093	Respiratory insufficiency	1	MPL CL E G H	4352	7217	ORPHA:729	Polycythemia vera	HP:0040282 - Frequent		97
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	MPL CL E G H	4352	7217	ORPHA:729	Polycythemia vera			97
HP:0002795	HP:0025427	Abnormal bronchus physiology	1	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy			9
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy			56
HP:0002795	HP:0012735	Cough	1	MPZ CL E G H	4359	7225	OMIM:607736	Charcot-Marie-Tooth disease, type 2J			134
HP:0002795	HP:0002093	Respiratory insufficiency	1	MPZ CL E G H	4359	7225	OMIM:618184	Neuropathy, congenital hypomyelinating, 2			134
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	MPZ CL E G H	4359	7225	OMIM:618184	Neuropathy, congenital hypomyelinating, 2			134
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	MRPL3 CL E G H	11222	10379	OMIM:614582	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD9			13
HP:0002795	HP:0002093	Respiratory insufficiency	1	MRPS14 CL E G H	63931	14049	OMIM:618378	Combined oxidative phosphorylation deficiency 38	.
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	MRPS34 CL E G H	65993	16618	OMIM:617664	Combined oxidative phosphorylation deficiency 32			1
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	MS4A1 CL E G H	931	7315	ORPHA:1572	Common variable immunodeficiency			1
HP:0002795	HP:0002099	Asthma	1	MS4A2 CL E G H	2206	7316	OMIM:147050	Ige responsiveness, atopic	.		1
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	MSX1 CL E G H	4487	7391	ORPHA:141291	Cleft lip and alveolus	HP:0040282 - Frequent		12
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	MTFMT CL E G H	123263	29666	ORPHA:255241	Leigh syndrome with leukodystrophy			29
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	MTHFR CL E G H	4524	7436	ORPHA:395	Homocystinuria due to methylene tetrahydrofolate reductase deficiency			183
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	MTHFR CL E G H	4524	7436	OMIM:188050	Thrombophiliavenous thromboembolism, included			183
HP:0002795	HP:0002093	Respiratory insufficiency	1	MTM1 CL E G H	4534	7448	OMIM:310400	Myopathy, centronuclear, X-linked			185
HP:0002795	HP:0002093	Respiratory insufficiency	1	MTM1 CL E G H	4534	7448	ORPHA:596	X-linked centronuclear myopathy			185
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	MTM1 CL E G H	4534	7448	ORPHA:596	X-linked centronuclear myopathy			185
HP:0002795	HP:0002093	Respiratory insufficiency	1	MTM1 CL E G H	4534	7448	ORPHA:456328	X-linked myotubular myopathy-abnormal genitalia syndrome	HP:0040282 - Frequent		185
HP:0002795	HP:0002093	Respiratory insufficiency	1	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy			7
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy			7
HP:0002795	HP:0002099	Asthma	1	MTOR CL E G H	2475	3942	ORPHA:457485	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	HP:0040283 - Occasional		68
HP:0002795	HP:0002093	Respiratory insufficiency	1	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia			81
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	MUC5B CL E G H	727897	7516	ORPHA:2032	Idiopathic pulmonary fibrosis			133
HP:0002795	HP:0012735	Cough	1	MUC5B CL E G H	727897	7516	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent		133
HP:0002795	HP:0030829	Abnormal breath sound	1	MUC5B CL E G H	727897	7516	ORPHA:2032	Idiopathic pulmonary fibrosis			133
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	MUC5B CL E G H	727897	7516	OMIM:178500	Pulmonary fibrosis, idiopathic			133
HP:0002795	HP:0012735	Cough	1	MUC5B CL E G H	727897	7516	OMIM:178500	Pulmonary fibrosis, idiopathic			133
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	MUC5B CL E G H	727897	7516	OMIM:178500	Pulmonary fibrosis, idiopathic			133
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	MUC5B CL E G H	727897	7516	OMIM:178500	Pulmonary fibrosis, idiopathic			133
HP:0002795	HP:0032933	Airway hyperresponsiveness	1	MUC7 CL E G H	4589	7518	OMIM:600807	Asthma, susceptibility to			1
HP:0002795	HP:0002099	Asthma	1	MUC7 CL E G H	4589	7518	OMIM:600807	Asthma, susceptibility to	.		1
HP:0002795	HP:0025427	Abnormal bronchus physiology	1	MUC7 CL E G H	4589	7518	OMIM:600807	Asthma, susceptibility to			1
HP:0002795	HP:0002093	Respiratory insufficiency	1	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent		72
HP:0002795	HP:0002093	Respiratory insufficiency	1	MUSK CL E G H	4593	7525	OMIM:616325	Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency	.		72
HP:0002795	HP:0002093	Respiratory insufficiency	1	MUSK CL E G H	4593	7525	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			72
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	MUSK CL E G H	4593	7525	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			72
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	MUSK CL E G H	4593	7525	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			72
HP:0002795	HP:0002093	Respiratory insufficiency	1	MYBPC1 CL E G H	4604	7549	OMIM:614915	Lethal congenital contracture syndrome 4	.		66
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	MYBPC3 CL E G H	4607	7551	OMIM:115197	Cardiomyopathy, familial hypertrophic, 4			1143
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	MYBPC3 CL E G H	4607	7551	OMIM:615396	Left ventricular noncompaction 10			1143
HP:0002795	HP:0002093	Respiratory insufficiency	1	MYD88 CL E G H	4615	7562	ORPHA:33226	Waldenström macroglobulinemia	HP:0040282 - Frequent		9
HP:0002795	HP:0002093	Respiratory insufficiency	1	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy			19
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy			19
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	MYH11 CL E G H	4629	7569	ORPHA:229	Familial aortic dissection			418
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	MYH11 CL E G H	4629	7569	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			418
HP:0002795	HP:0002093	Respiratory insufficiency	1	MYH11 CL E G H	4629	7569	OMIM:619351	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2; MMIHS2			418
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	MYH11 CL E G H	4629	7569	OMIM:619351	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2; MMIHS2			418
HP:0002795	HP:0002093	Respiratory insufficiency	1	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome			166
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	MYH6 CL E G H	4624	7576	ORPHA:99103	Atrial septal defect, ostium secundum type			452
HP:0002795	HP:0005957	Breathing dysregulation	1	MYH6 CL E G H	4624	7576	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional		452
HP:0002795	HP:0006536	Airway obstruction	1	MYH6 CL E G H	4624	7576	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040284 - Very rare		452
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	MYH6 CL E G H	4624	7576	ORPHA:99103	Atrial septal defect, ostium secundum type			452
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	MYH7 CL E G H	4625	7577	OMIM:613426	Cardiomyopathy, dilated, 1S			1269
HP:0002795	HP:0002093	Respiratory insufficiency	1	MYH7 CL E G H	4625	7577	ORPHA:324604	Classic multiminicore myopathy			1269
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	MYH7 CL E G H	4625	7577	ORPHA:324604	Classic multiminicore myopathy			1269
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	MYH7 CL E G H	4625	7577	ORPHA:324604	Classic multiminicore myopathy			1269
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	MYH7 CL E G H	4625	7577	ORPHA:324604	Classic multiminicore myopathy			1269
HP:0002795	HP:0002093	Respiratory insufficiency	1	MYH7 CL E G H	4625	7577	ORPHA:1880	Ebstein malformation of the tricuspid valve	HP:0040281 - Very frequent		1269
HP:0002795	HP:0006536	Airway obstruction	1	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy			1269
HP:0002795	HP:0002093	Respiratory insufficiency	1	MYH7 CL E G H	4625	7577	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.		1269
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	MYH7 CL E G H	4625	7577	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			1269
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	MYH7 CL E G H	4625	7577	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			1269
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	MYH7 CL E G H	4625	7577	OMIM:608358	Myopathy, myosin storage			1269
HP:0002795	HP:0002093	Respiratory insufficiency	1	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive	.		1269
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive			1269
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive			1269
HP:0002795	HP:0002093	Respiratory insufficiency	1	MYL1 CL E G H	4632	7582	OMIM:618414	Myopathy, congenital, with fast-twitch (type ii) fiber atrophy
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	MYL1 CL E G H	4632	7582	OMIM:618414	Myopathy, congenital, with fast-twitch (type ii) fiber atrophy
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	MYL1 CL E G H	4632	7582	OMIM:618414	Myopathy, congenital, with fast-twitch (type ii) fiber atrophy
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	MYL2 CL E G H	4633	7583	OMIM:608758	Cardiomyopathy, familial hypertrophic, 10			131
HP:0002795	HP:0002093	Respiratory insufficiency	1	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy			131
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		131
HP:0002795	HP:0012415	Abnormal blood gas level	1	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy			131
HP:0002795	HP:0002093	Respiratory insufficiency	1	MYL2 CL E G H	4633	7583	OMIM:619424	MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12			131
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	MYL3 CL E G H	4634	7584	OMIM:608751	Cardiomyopathy, familial hypertrophic, 8			95
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	MYLK CL E G H	4638	7590	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			326
HP:0002795	HP:0002093	Respiratory insufficiency	1	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome	.		5
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome			5
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	MYO1H CL E G H	283446	13879	OMIM:619482	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	MYO1H CL E G H	283446	13879	OMIM:619482	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2
HP:0002795	HP:0002093	Respiratory insufficiency	1	MYO1H CL E G H	283446	13879	ORPHA:661	Ondine syndrome	HP:0040281 - Very frequent
HP:0002795	HP:0002093	Respiratory insufficiency	1	MYO9A CL E G H	4649	7608	OMIM:618198	Myasthenic syndrome, congenital, 24, presynaptic	.
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	MYO9A CL E G H	4649	7608	OMIM:618198	Myasthenic syndrome, congenital, 24, presynaptic
HP:0002795	HP:0002093	Respiratory insufficiency	1	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes
HP:0002795	HP:0030829	Abnormal breath sound	1	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes
HP:0002795	HP:0002093	Respiratory insufficiency	1	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent
HP:0002795	HP:0002093	Respiratory insufficiency	1	MYOD1 CL E G H	4654	7611	OMIM:618975	MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0002795	HP:0002093	Respiratory insufficiency	1	MYOT CL E G H	9499	12399	ORPHA:266	Autosomal dominant limb-girdle muscular dystrophy type 1A	HP:0040283 - Occasional		75
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	MYOT CL E G H	9499	12399	ORPHA:266	Autosomal dominant limb-girdle muscular dystrophy type 1A			75
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	MYOT CL E G H	9499	12399	ORPHA:266	Autosomal dominant limb-girdle muscular dystrophy type 1A			75
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	MYOZ2 CL E G H	51778	1330	OMIM:613838	Cardiomyopathy, familial hypertrophic, 16			81
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	MYPN CL E G H	84665	23246	ORPHA:171881	Cap myopathy			217
HP:0002795	HP:0002093	Respiratory insufficiency	1	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy			217
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy			217
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy			217
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	MYPN CL E G H	84665	23246	ORPHA:75249	Familial isolated restrictive cardiomyopathy			217
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	MYPN CL E G H	84665	23246	ORPHA:75249	Familial isolated restrictive cardiomyopathy			217
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	MYPN CL E G H	84665	23246	OMIM:617336	Nemaline myopathy 11, autosomal recessive			217
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0002795	HP:0002835	Aspiration	1	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	NABP1 CL E G H	64859	26232	ORPHA:520	Acute promyelocytic leukemia
HP:0002795	HP:0012735	Cough	1	NABP1 CL E G H	64859	26232	ORPHA:520	Acute promyelocytic leukemia
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	NACC1 CL E G H	112939	20967	OMIM:617393	Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination			1
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	NACC1 CL E G H	112939	20967	ORPHA:500545	Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract			1
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	NADK2 CL E G H	133686	26404	ORPHA:431361	Progressive encephalopathy with leukodystrophy due to DECR deficiency			14
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	NAGS CL E G H	162417	17996	ORPHA:927	Hyperammonemia due to N-acetylglutamate synthase deficiency			36
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	NAGS CL E G H	162417	17996	OMIM:237310	N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY			36
HP:0002795	HP:0002093	Respiratory insufficiency	1	NALCN CL E G H	259232	19082	OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay	.		48
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome			48
HP:0002795	HP:0002093	Respiratory insufficiency	1	NAXE CL E G H	128240	18453	OMIM:617186	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1			9
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	NAXE CL E G H	128240	18453	OMIM:617186	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1			9
HP:0002795	HP:0002093	Respiratory insufficiency	1	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome			706
HP:0002795	HP:0006536	Airway obstruction	1	NCF1 CL E G H	653361	7660	ORPHA:379	Chronic granulomatous disease			13
HP:0002795	HP:0006536	Airway obstruction	1	NCF2 CL E G H	4688	7661	ORPHA:379	Chronic granulomatous disease			67
HP:0002795	HP:0006536	Airway obstruction	1	NCF4 CL E G H	4689	7662	ORPHA:379	Chronic granulomatous disease			37
HP:0002795	HP:0002093	Respiratory insufficiency	1	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	ND1 CL E G H	4535	7455	ORPHA:550	MELAS
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002795	HP:0002093	Respiratory insufficiency	1	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002795	HP:0002093	Respiratory insufficiency	1	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	ND4 CL E G H	4538	7459	ORPHA:550	MELAS
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	ND5 CL E G H	4540	7461	ORPHA:550	MELAS
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	ND6 CL E G H	4541	7462	ORPHA:550	MELAS
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	NDE1 CL E G H	54820	17619	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type			96
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
HP:0002795	HP:0002093	Respiratory insufficiency	1	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		7
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	NDUFA10 CL E G H	4705	7684	ORPHA:255241	Leigh syndrome with leukodystrophy			91
HP:0002795	HP:0002093	Respiratory insufficiency	1	NDUFA10 CL E G H	4705	7684	OMIM:618243	Mitochondrial complex I deficiency, nuclear type 22	.		91
HP:0002795	HP:0002093	Respiratory insufficiency	1	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		32
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	NDUFA11 CL E G H	126328	20371	OMIM:618236	Mitochondrial complex I deficiency, nuclear type 14			32
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	NDUFA12 CL E G H	55967	23987	ORPHA:255241	Leigh syndrome with leukodystrophy			7
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	NDUFA13 CL E G H	51079	17194	ORPHA:255241	Leigh syndrome with leukodystrophy			3
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	NDUFA2 CL E G H	4695	7685	ORPHA:255241	Leigh syndrome with leukodystrophy			19
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	NDUFA2 CL E G H	4695	7685	OMIM:618235	Mitochondrial complex I deficiency, nuclear type 13			19
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	NDUFA4 CL E G H	4697	7687	ORPHA:255241	Leigh syndrome with leukodystrophy			4
HP:0002795	HP:0002093	Respiratory insufficiency	1	NDUFA6 CL E G H	4700	7690	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		1
HP:0002795	HP:0002093	Respiratory insufficiency	1	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33	.		1
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33			1
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	NDUFA8 CL E G H	4702	7692	OMIM:619272	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	NDUFA8 CL E G H	4702	7692	OMIM:619272	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	NDUFA9 CL E G H	4704	7693	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0002795	HP:0002093	Respiratory insufficiency	1	NDUFA9 CL E G H	4704	7693	OMIM:618247	Mitochondrial complex I deficiency, nuclear type 26	.		27
HP:0002795	HP:0002093	Respiratory insufficiency	1	NDUFAF1 CL E G H	51103	18828	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		40
HP:0002795	HP:0002093	Respiratory insufficiency	1	NDUFAF2 CL E G H	91942	28086	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		26
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	NDUFAF2 CL E G H	91942	28086	ORPHA:255241	Leigh syndrome with leukodystrophy			26
HP:0002795	HP:0002093	Respiratory insufficiency	1	NDUFAF2 CL E G H	91942	28086	OMIM:618233	Mitochondrial complex I deficiency, nuclear type 10			26
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	NDUFAF2 CL E G H	91942	28086	OMIM:618233	Mitochondrial complex I deficiency, nuclear type 10			26
HP:0002795	HP:0002093	Respiratory insufficiency	1	NDUFAF3 CL E G H	25915	29918	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		31
HP:0002795	HP:0002093	Respiratory insufficiency	1	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy			31
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy			31
HP:0002795	HP:0002093	Respiratory insufficiency	1	NDUFAF3 CL E G H	25915	29918	OMIM:618240	Mitochondrial complex I deficiency, nuclear type 18			31
HP:0002795	HP:0002093	Respiratory insufficiency	1	NDUFAF4 CL E G H	29078	21034	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		50
HP:0002795	HP:0002093	Respiratory insufficiency	1	NDUFAF5 CL E G H	79133	15899	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		34
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	NDUFAF5 CL E G H	79133	15899	ORPHA:255241	Leigh syndrome with leukodystrophy			34
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	NDUFAF6 CL E G H	137682	28625	OMIM:618913	FANCONI RENOTUBULAR SYNDROME 5; FRTS5			39
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	NDUFAF6 CL E G H	137682	28625	ORPHA:255241	Leigh syndrome with leukodystrophy			39
HP:0002795	HP:0002093	Respiratory insufficiency	1	NDUFAF8 CL E G H	284184	33551	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0002795	HP:0002093	Respiratory insufficiency	1	NDUFAF8 CL E G H	284184	33551	OMIM:618776	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34; MC1DN34
HP:0002795	HP:0002093	Respiratory insufficiency	1	NDUFB10 CL E G H	4716	7696	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0002795	HP:0002093	Respiratory insufficiency	1	NDUFB10 CL E G H	4716	7696	OMIM:619003	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	NDUFB10 CL E G H	4716	7696	OMIM:619003	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35
HP:0002795	HP:0002093	Respiratory insufficiency	1	NDUFB11 CL E G H	54539	20372	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		3
HP:0002795	HP:0002093	Respiratory insufficiency	1	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome			3
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome			3
HP:0002795	HP:0002093	Respiratory insufficiency	1	NDUFB11 CL E G H	54539	20372	OMIM:301021	Mitochondrial complex I deficiency, nuclear type 30			3
HP:0002795	HP:0002093	Respiratory insufficiency	1	NDUFB3 CL E G H	4709	7698	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		9
HP:0002795	HP:0002093	Respiratory insufficiency	1	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy
HP:0002795	HP:0002093	Respiratory insufficiency	1	NDUFB8 CL E G H	4714	7703	OMIM:618252	Mitochondrial complex I deficiency, nuclear type 32	.
HP:0002795	HP:0002093	Respiratory insufficiency	1	NDUFB9 CL E G H	4715	7704	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		16
HP:0002795	HP:0002093	Respiratory insufficiency	1	NDUFS1 CL E G H	4719	7707	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		81
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	NDUFS1 CL E G H	4719	7707	ORPHA:255241	Leigh syndrome with leukodystrophy			81
HP:0002795	HP:0002093	Respiratory insufficiency	1	NDUFS1 CL E G H	4719	7707	OMIM:618226	Mitochondrial complex I deficiency, nuclear type 5	.		81
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	NDUFS1 CL E G H	4719	7707	OMIM:618226	Mitochondrial complex I deficiency, nuclear type 5			81
HP:0002795	HP:0002093	Respiratory insufficiency	1	NDUFS2 CL E G H	4720	7708	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		65
HP:0002795	HP:0002093	Respiratory insufficiency	1	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy			65
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy			65
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	NDUFS2 CL E G H	4720	7708	ORPHA:255241	Leigh syndrome with leukodystrophy			65
HP:0002795	HP:0002093	Respiratory insufficiency	1	NDUFS2 CL E G H	4720	7708	OMIM:618228	Mitochondrial complex I deficiency, nuclear type 6	.		65
HP:0002795	HP:0002093	Respiratory insufficiency	1	NDUFS3 CL E G H	4722	7710	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		22
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	NDUFS3 CL E G H	4722	7710	ORPHA:255241	Leigh syndrome with leukodystrophy			22
HP:0002795	HP:0002093	Respiratory insufficiency	1	NDUFS3 CL E G H	4722	7710	OMIM:618230	Mitochondrial complex I deficiency, nuclear type 8	.		22
HP:0002795	HP:0002093	Respiratory insufficiency	1	NDUFS4 CL E G H	4724	7711	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		27
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	NDUFS4 CL E G H	4724	7711	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0002795	HP:0002093	Respiratory insufficiency	1	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1	.		27
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1			27
HP:0002795	HP:0002093	Respiratory insufficiency	1	NDUFS6 CL E G H	4726	7713	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		21
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	NDUFS6 CL E G H	4726	7713	OMIM:618232	Mitochondrial complex I deficiency, nuclear type 9			21
HP:0002795	HP:0005957	Breathing dysregulation	1	NDUFS6 CL E G H	4726	7713	OMIM:618232	Mitochondrial complex I deficiency, nuclear type 9	.		21
HP:0002795	HP:0002093	Respiratory insufficiency	1	NDUFS7 CL E G H	374291	7714	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		38
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	NDUFS7 CL E G H	374291	7714	ORPHA:255241	Leigh syndrome with leukodystrophy			38
HP:0002795	HP:0002093	Respiratory insufficiency	1	NDUFS7 CL E G H	374291	7714	OMIM:618224	Mitochondrial complex I deficiency, nuclear type 3	.		38
HP:0002795	HP:0002093	Respiratory insufficiency	1	NDUFS8 CL E G H	4728	7715	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		42
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	NDUFS8 CL E G H	4728	7715	ORPHA:255241	Leigh syndrome with leukodystrophy			42
HP:0002795	HP:0002093	Respiratory insufficiency	1	NDUFS8 CL E G H	4728	7715	OMIM:618222	Mitochondrial complex I deficiency, nuclear type 2	.		42
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	NDUFS8 CL E G H	4728	7715	OMIM:618222	Mitochondrial complex I deficiency, nuclear type 2			42
HP:0002795	HP:0012415	Abnormal blood gas level	1	NDUFS8 CL E G H	4728	7715	OMIM:618222	Mitochondrial complex I deficiency, nuclear type 2			42
HP:0002795	HP:0002093	Respiratory insufficiency	1	NDUFV1 CL E G H	4723	7716	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		74
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	NDUFV1 CL E G H	4723	7716	ORPHA:255241	Leigh syndrome with leukodystrophy			74
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	NDUFV1 CL E G H	4723	7716	OMIM:618225	Mitochondrial complex I deficiency, nuclear type 4			74
HP:0002795	HP:0002093	Respiratory insufficiency	1	NDUFV2 CL E G H	4729	7717	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		27
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	NDUFV2 CL E G H	4729	7717	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0002795	HP:0002093	Respiratory insufficiency	1	NEB CL E G H	4703	7720	OMIM:619334	ARTHROGRYPOSIS MULTIPLEX CONGENITA 6; AMC6			745
HP:0002795	HP:0002093	Respiratory insufficiency	1	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy			745
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy			745
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy			745
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	NEB CL E G H	4703	7720	ORPHA:399103	Distal nebulin myopathy			745
HP:0002795	HP:0002093	Respiratory insufficiency	1	NEB CL E G H	4703	7720	ORPHA:171433	Intermediate nemaline myopathy			745
HP:0002795	HP:0002093	Respiratory insufficiency	1	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive			745
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive			745
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive			745
HP:0002795	HP:0002093	Respiratory insufficiency	1	NEB CL E G H	4703	7720	ORPHA:171430	Severe congenital nemaline myopathy			745
HP:0002795	HP:0002093	Respiratory insufficiency	1	NEB CL E G H	4703	7720	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent		745
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	NEB CL E G H	4703	7720	ORPHA:171436	Typical nemaline myopathy			745
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	NECTIN1 CL E G H	5818	9706	ORPHA:141291	Cleft lip and alveolus	HP:0040282 - Frequent		4
HP:0002795	HP:0002093	Respiratory insufficiency	1	NEFH CL E G H	4744	7737	ORPHA:803	Amyotrophic lateral sclerosis			24
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	NEFH CL E G H	4744	7737	ORPHA:803	Amyotrophic lateral sclerosis			24
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	NEFH CL E G H	4744	7737	OMIM:105400	Amyotrophic lateral sclerosis 1			24
HP:0002795	HP:0002093	Respiratory insufficiency	1	NEK1 CL E G H	4750	7744	ORPHA:803	Amyotrophic lateral sclerosis			101
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	NEK1 CL E G H	4750	7744	ORPHA:803	Amyotrophic lateral sclerosis			101
HP:0002795	HP:0002093	Respiratory insufficiency	1	NEK1 CL E G H	4750	7744	OMIM:617892	Amyotrophic lateral sclerosis, susceptibility to, 24	HP:0040284 - Very rare		101
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2			101
HP:0002795	HP:0002093	Respiratory insufficiency	1	NEK10 CL E G H	152110	18592	OMIM:618781	CILIARY DYSKINESIA, PRIMARY, 44; CILD44
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	NEK10 CL E G H	152110	18592	OMIM:618781	CILIARY DYSKINESIA, PRIMARY, 44; CILD44
HP:0002795	HP:0002093	Respiratory insufficiency	1	NEK10 CL E G H	152110	18592	ORPHA:244	Primary ciliary dyskinesia
HP:0002795	HP:0006536	Airway obstruction	1	NEK10 CL E G H	152110	18592	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0002795	HP:0012735	Cough	1	NEK10 CL E G H	152110	18592	ORPHA:244	Primary ciliary dyskinesia
HP:0002795	HP:0030829	Abnormal breath sound	1	NEK10 CL E G H	152110	18592	ORPHA:244	Primary ciliary dyskinesia
HP:0002795	HP:0002099	Asthma	1	NEK9 CL E G H	91754	18591	OMIM:614262	Arthrogryposis, perthes disease, and upward gaze palsy	.		9
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	NEMF CL E G H	9147	10663	OMIM:619099	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND AXONAL PERIPHERAL NEUROPATHY; IDDSAPN			1
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome			1952
HP:0002795	HP:0006520	Progressive pulmonary function impairment	1	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040284 - Very rare		220
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040284 - Very rare		220
HP:0002795	HP:0002093	Respiratory insufficiency	1	NFASC CL E G H	23114	29866	OMIM:618356	Neurodevelopmental disorder with central and peripheral motor dysfunction	.
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome			40
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0002795	HP:0006536	Airway obstruction	1	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0002795	HP:0030829	Abnormal breath sound	1	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	NFKB1 CL E G H	4790	7794	ORPHA:1572	Common variable immunodeficiency			7
HP:0002795	HP:0006536	Airway obstruction	1	NFKB1 CL E G H	4790	7794	OMIM:616576	IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12			7
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	NFKB2 CL E G H	4791	7795	ORPHA:1572	Common variable immunodeficiency			11
HP:0002795	HP:0002099	Asthma	1	NFKB2 CL E G H	4791	7795	OMIM:615577	Immunodeficiency, common variable, 10			11
HP:0002795	HP:0002093	Respiratory insufficiency	1	NFS1 CL E G H	9054	15910	OMIM:619386	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD52			5
HP:0002795	HP:0002093	Respiratory insufficiency	1	NFU1 CL E G H	27247	16287	OMIM:605711	Multiple mitochondrial dysfunctions syndrome 1	.		34
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	NFU1 CL E G H	27247	16287	OMIM:605711	Multiple mitochondrial dysfunctions syndrome 1			34
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome			32
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation			32
HP:0002795	HP:0002093	Respiratory insufficiency	1	NHLRC2 CL E G H	374354	24731	OMIM:618278	Fibrosis, neurodegeneration, and cerebral angiomatosis	.
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	NHLRC2 CL E G H	374354	24731	OMIM:618278	Fibrosis, neurodegeneration, and cerebral angiomatosis
HP:0002795	HP:0002093	Respiratory insufficiency	1	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome			51
HP:0002795	HP:0002099	Asthma	1	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome	HP:0040284 - Very rare		51
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome			51
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome			51
HP:0002795	HP:0002093	Respiratory insufficiency	1	NKX2-1 CL E G H	7080	11825	OMIM:610978	Choreoathetosis, hypothyroidism, and neonatal respiratory distress			51
HP:0002795	HP:0002099	Asthma	1	NKX2-1 CL E G H	7080	11825	OMIM:610978	Choreoathetosis, hypothyroidism, and neonatal respiratory distress	HP:0040283 - Occasional		51
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	NKX2-1 CL E G H	7080	11825	OMIM:610978	Choreoathetosis, hypothyroidism, and neonatal respiratory distress			51
HP:0002795	HP:0012415	Abnormal blood gas level	1	NKX2-1 CL E G H	7080	11825	OMIM:610978	Choreoathetosis, hypothyroidism, and neonatal respiratory distress			51
HP:0002795	HP:0012735	Cough	1	NKX2-1 CL E G H	7080	11825	OMIM:610978	Choreoathetosis, hypothyroidism, and neonatal respiratory distress			51
HP:0002795	HP:0030829	Abnormal breath sound	1	NKX2-1 CL E G H	7080	11825	OMIM:610978	Choreoathetosis, hypothyroidism, and neonatal respiratory distress			51
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	NKX2-1 CL E G H	7080	11825	OMIM:610978	Choreoathetosis, hypothyroidism, and neonatal respiratory distress			51
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	NKX2-5 CL E G H	1482	2488	ORPHA:99103	Atrial septal defect, ostium secundum type			90
HP:0002795	HP:0005957	Breathing dysregulation	1	NKX2-5 CL E G H	1482	2488	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional		90
HP:0002795	HP:0006536	Airway obstruction	1	NKX2-5 CL E G H	1482	2488	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040284 - Very rare		90
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	NKX2-5 CL E G H	1482	2488	ORPHA:99103	Atrial septal defect, ostium secundum type			90
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	NKX2-5 CL E G H	1482	2488	ORPHA:871	Familial progressive cardiac conduction defect			90
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	NKX2-6 CL E G H	137814	32940	ORPHA:3384	Truncus arteriosus			3
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	NLRP3 CL E G H	114548	16400	ORPHA:575	Muckle-Wells syndrome			217
HP:0002795	HP:0012261	Abnormal respiratory motile cilium physiology	1	NME8 CL E G H	51314	16473	OMIM:610852	Ciliary dyskinesia, primary, 6			50
HP:0002795	HP:0002093	Respiratory insufficiency	1	NME8 CL E G H	51314	16473	ORPHA:244	Primary ciliary dyskinesia			50
HP:0002795	HP:0006536	Airway obstruction	1	NME8 CL E G H	51314	16473	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		50
HP:0002795	HP:0012735	Cough	1	NME8 CL E G H	51314	16473	ORPHA:244	Primary ciliary dyskinesia			50
HP:0002795	HP:0030829	Abnormal breath sound	1	NME8 CL E G H	51314	16473	ORPHA:244	Primary ciliary dyskinesia			50
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome			187
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome			187
HP:0002795	HP:0002099	Asthma	1	NOD2 CL E G H	64127	5331	OMIM:617321	YAO SYNDROME; YAOS			187
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		45
HP:0002795	HP:0006528	Chronic lung disease	1	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		45
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		45
HP:0002795	HP:0006528	Chronic lung disease	1	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		45
HP:0002795	HP:0002099	Asthma	1	NODAL CL E G H	4838	7865	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		45
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		45
HP:0002795	HP:0006528	Chronic lung disease	1	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		45
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		45
HP:0002795	HP:0006528	Chronic lung disease	1	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		45
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome			10
HP:0002795	HP:0012735	Cough	1	NOS1 CL E G H	4842	7872	ORPHA:930	Idiopathic achalasia	HP:0040282 - Frequent		2
HP:0002795	HP:0030829	Abnormal breath sound	1	NOS1 CL E G H	4842	7872	ORPHA:930	Idiopathic achalasia			2
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome			452
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5			452
HP:0002795	HP:0002093	Respiratory insufficiency	1	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0002795	HP:0002093	Respiratory insufficiency	1	NPC2 CL E G H	10577	14537	OMIM:607625	Niemann-pick disease, type C2	.		33
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	NPHP1 CL E G H	4867	7905	ORPHA:220497	Joubert syndrome with renal defect	HP:0040281 - Very frequent		85
HP:0002795	HP:0002093	Respiratory insufficiency	1	NPHS1 CL E G H	4868	7908	OMIM:256300	Nephrotic syndrome, type 1			241
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	NPM1 CL E G H	4869	7910	ORPHA:520	Acute promyelocytic leukemia			12
HP:0002795	HP:0012735	Cough	1	NPM1 CL E G H	4869	7910	ORPHA:520	Acute promyelocytic leukemia			12
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	NPPA CL E G H	4878	7939	ORPHA:1344	Atrial standstill			13
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	NPPA CL E G H	4878	7939	OMIM:615745	Atrial standstill 2			13
HP:0002795	HP:0002093	Respiratory insufficiency	1	NR1H4 CL E G H	9971	7967	ORPHA:69665	Intrahepatic cholestasis of pregnancy			14
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	NRXN1 CL E G H	9378	8008	OMIM:614325	Pitt-Hopkins-Like syndrome 2			470
HP:0002795	HP:0002093	Respiratory insufficiency	1	NSF CL E G H	4905	8016	OMIM:619340	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 96; DEE96
HP:0002795	HP:0002093	Respiratory insufficiency	1	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome	HP:0040282 - Frequent		84
HP:0002795	HP:0002099	Asthma	1	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome	HP:0040283 - Occasional		84
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	NTNG1 CL E G H	22854	23319	ORPHA:3095	Atypical Rett syndrome	HP:0040281 - Very frequent		1
HP:0002795	HP:0002093	Respiratory insufficiency	1	NUBPL CL E G H	80224	20278	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		89
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	NUMA1 CL E G H	4926	8059	ORPHA:520	Acute promyelocytic leukemia
HP:0002795	HP:0012735	Cough	1	NUMA1 CL E G H	4926	8059	ORPHA:520	Acute promyelocytic leukemia
HP:0002795	HP:0002093	Respiratory insufficiency	1	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF			4
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	NUP214 CL E G H	8021	8064	OMIM:618426	Encephalopathy, acute, infection-induced, susceptibility to, 9			1
HP:0002795	HP:0002093	Respiratory insufficiency	1	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent
HP:0002795	HP:0002093	Respiratory insufficiency	1	NUTM2B-AS1 CL E G H	101060691	51204	OMIM:618637	OCULOPHARYNGEAL MYOPATHY WITH LEUKOENCEPHALOPATHY 1; OPML1
HP:0002795	HP:0002093	Respiratory insufficiency	1	OAS1 CL E G H	4938	8086	OMIM:618042	Pulmonary alveolar proteinosis with hypogammaglobulinemia	.		2
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			121
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			121
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			121
HP:0002795	HP:0002093	Respiratory insufficiency	1	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040283 - Occasional		88
HP:0002795	HP:0002093	Respiratory insufficiency	1	ODAD1 CL E G H	93233	26560	OMIM:615067	Ciliary dyskinesia, primary, 20
HP:0002795	HP:0012261	Abnormal respiratory motile cilium physiology	1	ODAD1 CL E G H	93233	26560	OMIM:615067	Ciliary dyskinesia, primary, 20
HP:0002795	HP:0012735	Cough	1	ODAD1 CL E G H	93233	26560	OMIM:615067	Ciliary dyskinesia, primary, 20	.
HP:0002795	HP:0031416	Abnormal nasal mucus secretion	1	ODAD1 CL E G H	93233	26560	OMIM:615067	Ciliary dyskinesia, primary, 20
HP:0002795	HP:0002093	Respiratory insufficiency	1	ODAD1 CL E G H	93233	26560	ORPHA:244	Primary ciliary dyskinesia
HP:0002795	HP:0006536	Airway obstruction	1	ODAD1 CL E G H	93233	26560	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0002795	HP:0012735	Cough	1	ODAD1 CL E G H	93233	26560	ORPHA:244	Primary ciliary dyskinesia
HP:0002795	HP:0030829	Abnormal breath sound	1	ODAD1 CL E G H	93233	26560	ORPHA:244	Primary ciliary dyskinesia
HP:0002795	HP:0002093	Respiratory insufficiency	1	ODAD2 CL E G H	55130	25583	OMIM:615451	CILIARY DYSKINESIA, PRIMARY, 23; CILD23
HP:0002795	HP:0012261	Abnormal respiratory motile cilium physiology	1	ODAD2 CL E G H	55130	25583	OMIM:615451	CILIARY DYSKINESIA, PRIMARY, 23; CILD23
HP:0002795	HP:0012735	Cough	1	ODAD2 CL E G H	55130	25583	OMIM:615451	CILIARY DYSKINESIA, PRIMARY, 23; CILD23
HP:0002795	HP:0002093	Respiratory insufficiency	1	ODAD2 CL E G H	55130	25583	ORPHA:244	Primary ciliary dyskinesia
HP:0002795	HP:0006536	Airway obstruction	1	ODAD2 CL E G H	55130	25583	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0002795	HP:0012735	Cough	1	ODAD2 CL E G H	55130	25583	ORPHA:244	Primary ciliary dyskinesia
HP:0002795	HP:0030829	Abnormal breath sound	1	ODAD2 CL E G H	55130	25583	ORPHA:244	Primary ciliary dyskinesia
HP:0002795	HP:0033036	Decreased nasal nitric oxide	1	ODAD3 CL E G H	115948	28303	OMIM:616037	Ciliary dyskinesia, primary, 30
HP:0002795	HP:0002093	Respiratory insufficiency	1	ODAD3 CL E G H	115948	28303	OMIM:616037	Ciliary dyskinesia, primary, 30	.	HP:0003623 - Neonatal onset
HP:0002795	HP:0002099	Asthma	1	ODAD3 CL E G H	115948	28303	OMIM:616037	Ciliary dyskinesia, primary, 30	.
HP:0002795	HP:0012261	Abnormal respiratory motile cilium physiology	1	ODAD3 CL E G H	115948	28303	OMIM:616037	Ciliary dyskinesia, primary, 30
HP:0002795	HP:0012735	Cough	1	ODAD3 CL E G H	115948	28303	OMIM:616037	Ciliary dyskinesia, primary, 30	.
HP:0002795	HP:0002093	Respiratory insufficiency	1	ODAD3 CL E G H	115948	28303	ORPHA:244	Primary ciliary dyskinesia
HP:0002795	HP:0006536	Airway obstruction	1	ODAD3 CL E G H	115948	28303	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0002795	HP:0012735	Cough	1	ODAD3 CL E G H	115948	28303	ORPHA:244	Primary ciliary dyskinesia
HP:0002795	HP:0030829	Abnormal breath sound	1	ODAD3 CL E G H	115948	28303	ORPHA:244	Primary ciliary dyskinesia
HP:0002795	HP:0012735	Cough	1	ODAD4 CL E G H	83538	25280	OMIM:617092	Ciliary dyskinesia, primary, 35	.
HP:0002795	HP:0002093	Respiratory insufficiency	1	ODAD4 CL E G H	83538	25280	ORPHA:244	Primary ciliary dyskinesia
HP:0002795	HP:0006536	Airway obstruction	1	ODAD4 CL E G H	83538	25280	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0002795	HP:0012735	Cough	1	ODAD4 CL E G H	83538	25280	ORPHA:244	Primary ciliary dyskinesia
HP:0002795	HP:0030829	Abnormal breath sound	1	ODAD4 CL E G H	83538	25280	ORPHA:244	Primary ciliary dyskinesia
HP:0002795	HP:0002099	Asthma	1	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome	HP:0040283 - Occasional		1
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	OFD1 CL E G H	8481	2567	ORPHA:2754	Orofaciodigital syndrome type 6			201
HP:0002795	HP:0002093	Respiratory insufficiency	1	OFD1 CL E G H	8481	2567	ORPHA:244	Primary ciliary dyskinesia			201
HP:0002795	HP:0006536	Airway obstruction	1	OFD1 CL E G H	8481	2567	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		201
HP:0002795	HP:0012735	Cough	1	OFD1 CL E G H	8481	2567	ORPHA:244	Primary ciliary dyskinesia			201
HP:0002795	HP:0030829	Abnormal breath sound	1	OFD1 CL E G H	8481	2567	ORPHA:244	Primary ciliary dyskinesia			201
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	OPA1 CL E G H	4976	8140	OMIM:616896	MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE); MTDPS14			214
HP:0002795	HP:0002093	Respiratory insufficiency	1	OPTN CL E G H	10133	17142	ORPHA:803	Amyotrophic lateral sclerosis			62
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	OPTN CL E G H	10133	17142	ORPHA:803	Amyotrophic lateral sclerosis			62
HP:0002795	HP:0002093	Respiratory insufficiency	1	OPTN CL E G H	10133	17142	OMIM:613435	Amyotrophic lateral sclerosis 12			62
HP:0002795	HP:0002093	Respiratory insufficiency	1	ORAI1 CL E G H	84876	25896	OMIM:612782	Immunodeficiency 9			19
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	ORAI1 CL E G H	84876	25896	OMIM:612782	Immunodeficiency 9			19
HP:0002795	HP:0002093	Respiratory insufficiency	1	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome			53
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome			53
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1			53
HP:0002795	HP:0002093	Respiratory insufficiency	1	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome			21
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome			21
HP:0002795	HP:0002093	Respiratory insufficiency	1	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome			39
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome			39
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3			39
HP:0002795	HP:0002093	Respiratory insufficiency	1	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5			73
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	OTX2 CL E G H	5015	8522	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome			41
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	OXCT1 CL E G H	5019	8527	OMIM:245050	Succinyl CoA:3-oxoacid CoA transferase deficiency			52
HP:0002795	HP:0012735	Cough	1	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		3
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	PAM16 CL E G H	51025	29679	OMIM:613320	Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type			1
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	PAM16 CL E G H	51025	29679	OMIM:613320	Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type			1
HP:0002795	HP:0012735	Cough	1	PANK2 CL E G H	80025	15894	ORPHA:216866	Classic pantothenate kinase-associated neurodegeneration	HP:0040283 - Occasional		55
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	PARN CL E G H	5073	8609	ORPHA:2032	Idiopathic pulmonary fibrosis			26
HP:0002795	HP:0012735	Cough	1	PARN CL E G H	5073	8609	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent		26
HP:0002795	HP:0030829	Abnormal breath sound	1	PARN CL E G H	5073	8609	ORPHA:2032	Idiopathic pulmonary fibrosis			26
HP:0002795	HP:0012735	Cough	1	PARN CL E G H	5073	8609	OMIM:616371	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4; PFBMFT4			26
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	PARN CL E G H	5073	8609	OMIM:616371	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4; PFBMFT4			26
HP:0002795	HP:0002093	Respiratory insufficiency	1	PAX2 CL E G H	5076	8616	ORPHA:97362	Renal hypoplasia, bilateral			39
HP:0002795	HP:0002093	Respiratory insufficiency	1	PAX7 CL E G H	5081	8621	OMIM:618578	MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	PAX7 CL E G H	5081	8621	OMIM:618578	MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO
HP:0002795	HP:0030829	Abnormal breath sound	1	PAX8 CL E G H	7849	8622	OMIM:218700	Hypothyroidism, congenital, nongoitrous, 2			63
HP:0002795	HP:0002093	Respiratory insufficiency	1	PBX1 CL E G H	5087	8632	OMIM:617641	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay	HP:0040284 - Very rare		3
HP:0002795	HP:0002093	Respiratory insufficiency	1	PBX1 CL E G H	5087	8632	ORPHA:97362	Renal hypoplasia, bilateral			3
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	PCCA CL E G H	5095	8653	OMIM:606054	Propionic acidemia			96
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	PCCB CL E G H	5096	8654	OMIM:606054	Propionic acidemia			92
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	PCK1 CL E G H	5105	8724	OMIM:261680	Phosphoenolpyruvate carboxykinase deficiency, cytosolic			53
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	PCSK9 CL E G H	255738	20001	ORPHA:391665	Homozygous familial hypercholesterolemia			178
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	PDE6D CL E G H	5147	8788	ORPHA:2754	Orofaciodigital syndrome type 6			1
HP:0002795	HP:0006520	Progressive pulmonary function impairment	1	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040284 - Very rare		9
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040284 - Very rare		9
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	PDHA1 CL E G H	5160	8806	ORPHA:255241	Leigh syndrome with leukodystrophy			88
HP:0002795	HP:0002093	Respiratory insufficiency	1	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency			88
HP:0002795	HP:0002093	Respiratory insufficiency	1	PDHA1 CL E G H	5160	8806	OMIM:312170	Pyruvate dehydrogenase e1-alpha deficiency			88
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	PDHA1 CL E G H	5160	8806	OMIM:312170	Pyruvate dehydrogenase e1-alpha deficiency			88
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	PDSS1 CL E G H	23590	17759	OMIM:614651	Coenzyme Q10 deficiency, primary, 2			40
HP:0002795	HP:0002099	Asthma	1	PEPD CL E G H	5184	8840	OMIM:170100	Prolidase deficiency			66
HP:0002795	HP:0006528	Chronic lung disease	1	PEPD CL E G H	5184	8840	OMIM:170100	Prolidase deficiency			66
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	PET100 CL E G H	100131801	40038	ORPHA:255241	Leigh syndrome with leukodystrophy			6
HP:0002795	HP:0002093	Respiratory insufficiency	1	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)			169
HP:0002795	HP:0002093	Respiratory insufficiency	1	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		169
HP:0002795	HP:0002093	Respiratory insufficiency	1	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		75
HP:0002795	HP:0002093	Respiratory insufficiency	1	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		4
HP:0002795	HP:0002093	Respiratory insufficiency	1	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		65
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	PEX13 CL E G H	5194	8855	OMIM:614883	Peroxisome biogenesis disorder 11A (Zellweger)			66
HP:0002795	HP:0002093	Respiratory insufficiency	1	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		66
HP:0002795	HP:0002093	Respiratory insufficiency	1	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		46
HP:0002795	HP:0002093	Respiratory insufficiency	1	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		59
HP:0002795	HP:0002093	Respiratory insufficiency	1	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		62
HP:0002795	HP:0002093	Respiratory insufficiency	1	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		82
HP:0002795	HP:0002093	Respiratory insufficiency	1	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		106
HP:0002795	HP:0002093	Respiratory insufficiency	1	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		47
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)			99
HP:0002795	HP:0002099	Asthma	1	PEX5 CL E G H	5830	9719	OMIM:616716	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP5			99
HP:0002795	HP:0002093	Respiratory insufficiency	1	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		99
HP:0002795	HP:0002093	Respiratory insufficiency	1	PEX6 CL E G H	5190	8859	OMIM:614862	Peroxisome biogenesis disorder 4A (Zellweger)			98
HP:0002795	HP:0002093	Respiratory insufficiency	1	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		98
HP:0002795	HP:0002093	Respiratory insufficiency	1	PEX7 CL E G H	5191	8860	ORPHA:773	Refsum disease	HP:0040283 - Occasional		72
HP:0002795	HP:0002093	Respiratory insufficiency	1	PEX7 CL E G H	5191	8860	OMIM:215100	Rhizomelic chondrodysplasia punctata, type 1	.		72
HP:0002795	HP:0002093	Respiratory insufficiency	1	PFN1 CL E G H	5216	8881	ORPHA:803	Amyotrophic lateral sclerosis			6
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	PFN1 CL E G H	5216	8881	ORPHA:803	Amyotrophic lateral sclerosis			6
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It			58
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It			58
HP:0002795	HP:0002099	Asthma	1	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23			15
HP:0002795	HP:0002099	Asthma	1	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040283 - Occasional		15
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	PHOX2B CL E G H	8929	9143	OMIM:209880	Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease			86
HP:0002795	HP:0012415	Abnormal blood gas level	1	PHOX2B CL E G H	8929	9143	OMIM:209880	Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease			86
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	PHOX2B CL E G H	8929	9143	ORPHA:99803	Haddad syndrome			86
HP:0002795	HP:0005957	Breathing dysregulation	1	PHOX2B CL E G H	8929	9143	ORPHA:99803	Haddad syndrome	HP:0040281 - Very frequent		86
HP:0002795	HP:0002093	Respiratory insufficiency	1	PHOX2B CL E G H	8929	9143	ORPHA:661	Ondine syndrome	HP:0040281 - Very frequent		86
HP:0002795	HP:0002093	Respiratory insufficiency	1	PHYH CL E G H	5264	8940	ORPHA:773	Refsum disease	HP:0040283 - Occasional		45
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria			11
HP:0002795	HP:0002835	Aspiration	1	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional		11
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	PIBF1 CL E G H	10464	23352	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		4
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	PIBF1 CL E G H	10464	23352	OMIM:617767	Joubert syndrome 33			4
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	PIEZO1 CL E G H	9780	28993	ORPHA:3202	Dehydrated hereditary stomatocytosis			36
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	PIEZO2 CL E G H	63895	26270	OMIM:108145	Arthrogryposis, distal, type 5			77
HP:0002795	HP:0002093	Respiratory insufficiency	1	PIEZO2 CL E G H	63895	26270	OMIM:617146	Arthrogryposis, distal, with impaired proprioception and touch			77
HP:0002795	HP:0002093	Respiratory insufficiency	1	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2			46
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria			46
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria			46
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome			37
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome			12
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	PIGT CL E G H	51604	14938	OMIM:615399	Paroxysmal nocturnal hemoglobinuria 2			12
HP:0002795	HP:0006528	Chronic lung disease	1	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6			2
HP:0002795	HP:0006520	Progressive pulmonary function impairment	1	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040284 - Very rare		162
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040284 - Very rare		162
HP:0002795	HP:0002093	Respiratory insufficiency	1	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies			9
HP:0002795	HP:0012735	Cough	1	PIK3R1 CL E G H	5295	8979	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040281 - Very frequent		43
HP:0002795	HP:0002093	Respiratory insufficiency	1	PIP5K1C CL E G H	23396	8996	OMIM:611369	Lethal congenital contracture syndrome 3			1
HP:0002795	HP:0002093	Respiratory insufficiency	1	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease			563
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease			563
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	PKP2 CL E G H	5318	9024	OMIM:609040	Arrhythmogenic right ventricular dysplasia, familial, 9			406
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy			133
HP:0002795	HP:0032933	Airway hyperresponsiveness	1	PLA2G7 CL E G H	7941	9040	OMIM:600807	Asthma, susceptibility to			5
HP:0002795	HP:0002099	Asthma	1	PLA2G7 CL E G H	7941	9040	OMIM:600807	Asthma, susceptibility to	.		5
HP:0002795	HP:0025427	Abnormal bronchus physiology	1	PLA2G7 CL E G H	7941	9040	OMIM:600807	Asthma, susceptibility to			5
HP:0002795	HP:0002099	Asthma	1	PLA2G7 CL E G H	7941	9040	OMIM:147050	Ige responsiveness, atopic	.		5
HP:0002795	HP:0002093	Respiratory insufficiency	1	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies	.		3
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies			3
HP:0002795	HP:0002093	Respiratory insufficiency	1	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder	HP:0040282 - Frequent		3
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder			3
HP:0002795	HP:0002099	Asthma	1	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional		3
HP:0002795	HP:0002093	Respiratory insufficiency	1	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0002795	HP:0002093	Respiratory insufficiency	1	PLCB3 CL E G H	5331	9056	OMIM:618961	SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY; SMDCD
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	PLCB4 CL E G H	5332	9059	ORPHA:137888	Auriculocondylar syndrome			82
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	PLCB4 CL E G H	5332	9059	OMIM:614669	Auriculocondylar syndrome 2			82
HP:0002795	HP:0002099	Asthma	1	PLCG2 CL E G H	5336	9066	OMIM:614468	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3; FCAS3			21
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent
HP:0002795	HP:0006528	Chronic lung disease	1	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent
HP:0002795	HP:0002093	Respiratory insufficiency	1	PLEC CL E G H	5339	9069	OMIM:226670	Epidermolysis bullosa simplex with muscular dystrophy			759
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	PLEC CL E G H	5339	9069	ORPHA:254361	Plectin-related limb-girdle muscular dystrophy R17			759
HP:0002795	HP:0002093	Respiratory insufficiency	1	PLEKHG5 CL E G H	57449	29105	OMIM:611067	Spinal muscular atrophy, distal, autosomal recessive, 4			186
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	PLEKHG5 CL E G H	57449	29105	OMIM:611067	Spinal muscular atrophy, distal, autosomal recessive, 4			186
HP:0002795	HP:0002093	Respiratory insufficiency	1	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1	.		105
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency			105
HP:0002795	HP:0002093	Respiratory insufficiency	1	PLOD2 CL E G H	5352	9082	ORPHA:2771	Bruck syndrome	HP:0040282 - Frequent		45
HP:0002795	HP:0030829	Abnormal breath sound	1	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease			60
HP:0002795	HP:0002093	Respiratory insufficiency	1	PLP1 CL E G H	5354	9086	ORPHA:280210	Pelizaeus-Merzbacher disease, connatal form			60
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	PLP1 CL E G H	5354	9086	ORPHA:99015	Spastic paraplegia type 2			60
HP:0002795	HP:0002093	Respiratory insufficiency	1	PLPBP CL E G H	11212	9457	OMIM:617290	Epilepsy, early-onset, vitamin b6-dependent	.	HP:0003623 - Neonatal onset	6
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	PLPBP CL E G H	11212	9457	OMIM:617290	Epilepsy, early-onset, vitamin b6-dependent			6
HP:0002795	HP:0002093	Respiratory insufficiency	1	PLPBP CL E G H	11212	9457	ORPHA:3006	Pyridoxine-dependent epilepsy			6
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	PLXND1 CL E G H	23129	9107	ORPHA:3384	Truncus arteriosus
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	PML CL E G H	5371	9113	ORPHA:520	Acute promyelocytic leukemia			3
HP:0002795	HP:0012735	Cough	1	PML CL E G H	5371	9113	ORPHA:520	Acute promyelocytic leukemia			3
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG			150
HP:0002795	HP:0012735	Cough	1	PMP22 CL E G H	5376	9118	ORPHA:90658	Charcot-Marie-Tooth disease type 1E	HP:0040283 - Occasional		79
HP:0002795	HP:0002093	Respiratory insufficiency	1	PMP22 CL E G H	5376	9118	ORPHA:640	Hereditary neuropathy with liability to pressure palsies	HP:0040283 - Occasional		79
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	PNKD CL E G H	25953	9153	ORPHA:98810	Paroxysmal non-kinesigenic dyskinesia			66
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	PNPLA2 CL E G H	57104	30802	ORPHA:565612	Triglyceride deposit cardiomyovasculopathy			65
HP:0002795	HP:0002093	Respiratory insufficiency	1	POGLUT1 CL E G H	56983	22954	OMIM:617232	Muscular dystrophy, limb-girdle, type 2Z	.		6
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome			35
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome			35
HP:0002795	HP:0002093	Respiratory insufficiency	1	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		464
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			464
HP:0002795	HP:0002093	Respiratory insufficiency	1	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive			464
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive			464
HP:0002795	HP:0002093	Respiratory insufficiency	1	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			464
HP:0002795	HP:0002093	Respiratory insufficiency	1	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		45
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			45
HP:0002795	HP:0002093	Respiratory insufficiency	1	POLR1B CL E G H	84172	20454	OMIM:618939	TREACHER COLLINS SYNDROME 4; TCS4
HP:0002795	HP:0002093	Respiratory insufficiency	1	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional
HP:0002795	HP:0002093	Respiratory insufficiency	1	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional		38
HP:0002795	HP:0002093	Respiratory insufficiency	1	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional		31
HP:0002795	HP:0002093	Respiratory insufficiency	1	POMK CL E G H	84197	26267	OMIM:615249	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12			18
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	POMK CL E G H	84197	26267	OMIM:615249	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12			18
HP:0002795	HP:0002093	Respiratory insufficiency	1	POMT1 CL E G H	10585	9202	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional		213
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	POMT1 CL E G H	10585	9202	ORPHA:86812	POMT1-related limb-girdle muscular dystrophy R11			213
HP:0002795	HP:0012735	Cough	1	POMT1 CL E G H	10585	9202	ORPHA:86812	POMT1-related limb-girdle muscular dystrophy R11	HP:0040283 - Occasional		213
HP:0002795	HP:0002093	Respiratory insufficiency	1	POMT2 CL E G H	29954	19743	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional		221
HP:0002795	HP:0002093	Respiratory insufficiency	1	POMT2 CL E G H	29954	19743	OMIM:613156	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2	.		221
HP:0002795	HP:0002093	Respiratory insufficiency	1	PON1 CL E G H	5444	9204	ORPHA:803	Amyotrophic lateral sclerosis			4
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	PON1 CL E G H	5444	9204	ORPHA:803	Amyotrophic lateral sclerosis			4
HP:0002795	HP:0002093	Respiratory insufficiency	1	PON2 CL E G H	5445	9205	ORPHA:803	Amyotrophic lateral sclerosis			2
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	PON2 CL E G H	5445	9205	ORPHA:803	Amyotrophic lateral sclerosis			2
HP:0002795	HP:0002093	Respiratory insufficiency	1	PON3 CL E G H	5446	9206	ORPHA:803	Amyotrophic lateral sclerosis			1
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	PON3 CL E G H	5446	9206	ORPHA:803	Amyotrophic lateral sclerosis			1
HP:0002795	HP:0006536	Airway obstruction	1	POR CL E G H	5447	9208	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis			76
HP:0002795	HP:0002093	Respiratory insufficiency	1	PPARGC1A CL E G H	10891	9237	ORPHA:803	Amyotrophic lateral sclerosis			1
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	PPARGC1A CL E G H	10891	9237	ORPHA:803	Amyotrophic lateral sclerosis			1
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	PPCS CL E G H	79717	25686	OMIM:618189	Cardiomyopathy, dilated, 2C
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	PPOX CL E G H	5498	9280	ORPHA:79473	Porphyria variegata			41
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0002795	HP:0002093	Respiratory insufficiency	1	PRDM13 CL E G H	59336	13998	OMIM:619909				2
HP:0002795	HP:0002093	Respiratory insufficiency	1	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0002795	HP:0006528	Chronic lung disease	1	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0002795	HP:0012735	Cough	1	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0002795	HP:0030829	Abnormal breath sound	1	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	PRKAR1A CL E G H	5573	9388	ORPHA:520	Acute promyelocytic leukemia			134
HP:0002795	HP:0012735	Cough	1	PRKAR1A CL E G H	5573	9388	ORPHA:520	Acute promyelocytic leukemia			134
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	PRKAR1A CL E G H	5573	9388	ORPHA:615	Familial atrial myxoma			134
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	PRKAR1B CL E G H	5575	9390	OMIM:619680	MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS			2
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	PRKCD CL E G H	5580	9399	ORPHA:1572	Common variable immunodeficiency			10
HP:0002795	HP:0002093	Respiratory insufficiency	1	PRKCSH CL E G H	5589	9411	ORPHA:2924	Isolated polycystic liver disease	HP:0040283 - Occasional		63
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	PRKCSH CL E G H	5589	9411	OMIM:174050	Polycystic liver disease 1 with or without kidney cysts			63
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	PRKG1 CL E G H	5592	9414	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			41
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	PRMT7 CL E G H	54496	25557	ORPHA:464288	Short stature-brachydactyly-obesity-global developmental delay syndrome			6
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	PRNP CL E G H	5621	9449	OMIM:600072	Fatal familial insomnia			69
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	PROC CL E G H	5624	9451	ORPHA:745	Severe hereditary thrombophilia due to congenital protein C deficiency			65
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	PROC CL E G H	5624	9451	OMIM:612304	Thrombophilia due to protein C deficiency, autosomal recessive			65
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	PROC CL E G H	5624	9451	OMIM:176860	Thrombophilia, hereditary, due to protein C deficiency, autosomaldominant			65
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	PROS1 CL E G H	5627	9456	ORPHA:743	Severe hereditary thrombophilia due to congenital protein S deficiency			75
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	PROS1 CL E G H	5627	9456	OMIM:614514	Thrombophilia due to protein S deficiency, autosomal recessive			75
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	PROS1 CL E G H	5627	9456	OMIM:612336	Thrombophilia, hereditary, due to protein S deficiency, autosomal			75
HP:0002795	HP:0002093	Respiratory insufficiency	1	PRPH CL E G H	5630	9461	ORPHA:803	Amyotrophic lateral sclerosis			25
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	PRPH CL E G H	5630	9461	ORPHA:803	Amyotrophic lateral sclerosis			25
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	PRPH CL E G H	5630	9461	OMIM:105400	Amyotrophic lateral sclerosis 1			25
HP:0002795	HP:0002093	Respiratory insufficiency	1	PRPS1 CL E G H	5631	9462	ORPHA:1187	Lethal ataxia with deafness and optic atrophy			49
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome			49
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	PRRT2 CL E G H	112476	30500	ORPHA:306	Benign familial infantile epilepsy			94
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	PRRT2 CL E G H	112476	30500	ORPHA:98810	Paroxysmal non-kinesigenic dyskinesia			94
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	PRRX1 CL E G H	5396	9142	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome			4
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	PRRX1 CL E G H	5396	9142	OMIM:202650	Agnathia-Otocephaly complex			4
HP:0002795	HP:0002093	Respiratory insufficiency	1	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis	HP:0040282 - Frequent
HP:0002795	HP:0006536	Airway obstruction	1	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis
HP:0002795	HP:0012735	Cough	1	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis	HP:0040282 - Frequent
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis
HP:0002795	HP:0002093	Respiratory insufficiency	1	PRUNE1 CL E G H	58497	13420	ORPHA:544469	PRUNE1-related neurological syndrome			8
HP:0002795	HP:0002093	Respiratory insufficiency	1	PSAP CL E G H	5660	9498	ORPHA:139406	Encephalopathy due to prosaposin deficiency	HP:0040281 - Very frequent		81
HP:0002795	HP:0002093	Respiratory insufficiency	1	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease			81
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease			81
HP:0002795	HP:0002093	Respiratory insufficiency	1	PSAP CL E G H	5660	9498	OMIM:611722	KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY			81
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	PSAP CL E G H	5660	9498	OMIM:611722	KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY			81
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	PSAT1 CL E G H	29968	19129	OMIM:610992	Phosphoserine aminotransferase deficiency			27
HP:0002795	HP:0002093	Respiratory insufficiency	1	PTCD3 CL E G H	55037	24717	OMIM:619057	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51; COXPD51
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		665
HP:0002795	HP:0006528	Chronic lung disease	1	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		665
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		665
HP:0002795	HP:0006528	Chronic lung disease	1	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		665
HP:0002795	HP:0002099	Asthma	1	PTCH1 CL E G H	5727	9585	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		665
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		665
HP:0002795	HP:0006528	Chronic lung disease	1	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		665
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		665
HP:0002795	HP:0006528	Chronic lung disease	1	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		665
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome			948
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	PTF1A CL E G H	256297	23734	OMIM:609069	Pancreatic and cerebellar agenesis			22
HP:0002795	HP:0002099	Asthma	1	PTGER2 CL E G H	5732	9594	OMIM:208550	Asthma, nasal polyps, and aspirin intolerance	.		1
HP:0002795	HP:0025427	Abnormal bronchus physiology	1	PTGER2 CL E G H	5732	9594	OMIM:208550	Asthma, nasal polyps, and aspirin intolerance			1
HP:0002795	HP:0012735	Cough	1	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		3
HP:0002795	HP:0002093	Respiratory insufficiency	1	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis	HP:0040282 - Frequent		3
HP:0002795	HP:0006536	Airway obstruction	1	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis			3
HP:0002795	HP:0012735	Cough	1	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis	HP:0040282 - Frequent		3
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis			3
HP:0002795	HP:0012415	Abnormal blood gas level	1	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease			6
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome			19
HP:0002795	HP:0002093	Respiratory insufficiency	1	PURA CL E G H	5813	9701	OMIM:616158	Mental retardation, autosomal dominant 31	.		53
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	PURA CL E G H	5813	9701	ORPHA:438216	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation			53
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	PURA CL E G H	5813	9701	ORPHA:314655	Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion			53
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	PYGM CL E G H	5837	9726	ORPHA:368	Glycogen storage disease due to muscle glycogen phosphorylase deficiency			166
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8			5
HP:0002795	HP:0006536	Airway obstruction	1	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B			9
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	RAI1 CL E G H	10743	9834	ORPHA:1713	17p11.2 microduplication syndrome			150
HP:0002795	HP:0002093	Respiratory insufficiency	1	RALGAPA1 CL E G H	253959	17770	OMIM:618797	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT			1
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	RANBP2 CL E G H	5903	9848	ORPHA:88619	Familial acute necrotizing encephalopathy	HP:0040282 - Frequent		57
HP:0002795	HP:0002093	Respiratory insufficiency	1	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent		73
HP:0002795	HP:0002093	Respiratory insufficiency	1	RAPSN CL E G H	5913	9863	OMIM:618388	FETAL AKINESIA DEFORMATION SEQUENCE 2; FADS2			73
HP:0002795	HP:0002093	Respiratory insufficiency	1	RAPSN CL E G H	5913	9863	OMIM:616326	Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency	.		73
HP:0002795	HP:0002093	Respiratory insufficiency	1	RAPSN CL E G H	5913	9863	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			73
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	RAPSN CL E G H	5913	9863	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			73
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	RAPSN CL E G H	5913	9863	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			73
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	RARA CL E G H	5914	9864	ORPHA:520	Acute promyelocytic leukemia			2
HP:0002795	HP:0012735	Cough	1	RARA CL E G H	5914	9864	ORPHA:520	Acute promyelocytic leukemia			2
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	RARS2 CL E G H	57038	21406	OMIM:611523	Pontocerebellar hypoplasia, type 6			93
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome			16
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome			3
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	REEP1 CL E G H	65055	25786	OMIM:620011				87
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	RELN CL E G H	5649	9957	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type			334
HP:0002795	HP:0002093	Respiratory insufficiency	1	REN CL E G H	5972	9958	OMIM:267430	Renal tubular dysgenesis	.		25
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart			16
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	RET CL E G H	5979	9967	ORPHA:99803	Haddad syndrome			572
HP:0002795	HP:0005957	Breathing dysregulation	1	RET CL E G H	5979	9967	ORPHA:99803	Haddad syndrome	HP:0040281 - Very frequent		572
HP:0002795	HP:0012735	Cough	1	RFC1 CL E G H	5981	9969	OMIM:614575	Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
HP:0002795	HP:0002093	Respiratory insufficiency	1	RFT1 CL E G H	91869	30220	OMIM:612015	Congenital disorder of glycosylation, type IN	.		92
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	RHAG CL E G H	6005	10006	ORPHA:71275	Rh deficiency syndrome			13
HP:0002795	HP:0012415	Abnormal blood gas level	1	RHAG CL E G H	6005	10006	ORPHA:71275	Rh deficiency syndrome			13
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	RHCE CL E G H	6006	10008	ORPHA:71275	Rh deficiency syndrome			8
HP:0002795	HP:0012415	Abnormal blood gas level	1	RHCE CL E G H	6006	10008	ORPHA:71275	Rh deficiency syndrome			8
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	RHD CL E G H	6007	10009	ORPHA:71275	Rh deficiency syndrome			16
HP:0002795	HP:0012415	Abnormal blood gas level	1	RHD CL E G H	6007	10009	ORPHA:71275	Rh deficiency syndrome			16
HP:0002795	HP:0002099	Asthma	1	RIC1 CL E G H	57589	17686	OMIM:618761	CATIFA SYNDROME; CATIFA
HP:0002795	HP:0006528	Chronic lung disease	1	RIPK1 CL E G H	8737	10019	OMIM:618108	IMMUNODEFICIENCY 57; IMD57
HP:0002795	HP:0002093	Respiratory insufficiency	1	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040281 - Very frequent		3
HP:0002795	HP:0002093	Respiratory insufficiency	1	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia	HP:0040281 - Very frequent		37
HP:0002795	HP:0002093	Respiratory insufficiency	1	RNASEH1 CL E G H	246243	18466	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy			3
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	RNASEH1 CL E G H	246243	18466	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy			3
HP:0002795	HP:0002093	Respiratory insufficiency	1	RNASEH1 CL E G H	246243	18466	OMIM:616479	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2	HP:0040283 - Occasional		3
HP:0002795	HP:0002093	Respiratory insufficiency	1	RNASEH2A CL E G H	10535	18518	OMIM:610333	Aicardi-Goutieres syndrome 4	.		33
HP:0002795	HP:0025427	Abnormal bronchus physiology	1	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy			3
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	RNF125 CL E G H	54941	21150	OMIM:616260	Tenorio syndrome			5
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	RNF13 CL E G H	11342	10057	ORPHA:544503	RNF13-related severe early-onset epileptic encephalopathy
HP:0002795	HP:0002093	Respiratory insufficiency	1	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome			7
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome			7
HP:0002795	HP:0012735	Cough	1	RNF6 CL E G H	6049	10069	ORPHA:99977	Squamous cell carcinoma of the esophagus	HP:0040282 - Frequent		3
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	RNU4ATAC CL E G H	100151683	34016	OMIM:226960	EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS			15
HP:0002795	HP:0002093	Respiratory insufficiency	1	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III			15
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III			15
HP:0002795	HP:0002093	Respiratory insufficiency	1	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I			15
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	RPA1 CL E G H	6117	10289	OMIM:619767	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 6; PFBMFT6
HP:0002795	HP:0002093	Respiratory insufficiency	1	RPGR CL E G H	6103	10295	ORPHA:244	Primary ciliary dyskinesia			200
HP:0002795	HP:0006536	Airway obstruction	1	RPGR CL E G H	6103	10295	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		200
HP:0002795	HP:0012735	Cough	1	RPGR CL E G H	6103	10295	ORPHA:244	Primary ciliary dyskinesia			200
HP:0002795	HP:0030829	Abnormal breath sound	1	RPGR CL E G H	6103	10295	ORPHA:244	Primary ciliary dyskinesia			200
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	RPGRIP1L CL E G H	23322	29168	OMIM:611560	Joubert syndrome 7			167
HP:0002795	HP:0005957	Breathing dysregulation	1	RPGRIP1L CL E G H	23322	29168	OMIM:611560	Joubert syndrome 7			167
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040281 - Very frequent		167
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	RPGRIP1L CL E G H	23322	29168	ORPHA:220497	Joubert syndrome with renal defect	HP:0040281 - Very frequent		167
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	RPL3L CL E G H	6123	10351	OMIM:619371	CARDIOMYOPATHY, DILATED, 2D; CMD2D
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	RPS26 CL E G H	6231	10414	OMIM:613309	Diamond-blackfan anemia 10			20
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis			1
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome			65
HP:0002795	HP:0002099	Asthma	1	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0002795	HP:0006536	Airway obstruction	1	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0002795	HP:0002093	Respiratory insufficiency	1	RRM2B CL E G H	50484	17296	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy			125
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	RRM2B CL E G H	50484	17296	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy			125
HP:0002795	HP:0002093	Respiratory insufficiency	1	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		125
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			125
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	RRM2B CL E G H	50484	17296	OMIM:612075	Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)			125
HP:0002795	HP:0012261	Abnormal respiratory motile cilium physiology	1	RSPH1 CL E G H	89765	12371	OMIM:615481	Ciliary dyskinesia, primary, 24			31
HP:0002795	HP:0002093	Respiratory insufficiency	1	RSPH1 CL E G H	89765	12371	ORPHA:244	Primary ciliary dyskinesia			31
HP:0002795	HP:0006536	Airway obstruction	1	RSPH1 CL E G H	89765	12371	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		31
HP:0002795	HP:0012735	Cough	1	RSPH1 CL E G H	89765	12371	ORPHA:244	Primary ciliary dyskinesia			31
HP:0002795	HP:0030829	Abnormal breath sound	1	RSPH1 CL E G H	89765	12371	ORPHA:244	Primary ciliary dyskinesia			31
HP:0002795	HP:0033036	Decreased nasal nitric oxide	1	RSPH3 CL E G H	83861	21054	OMIM:616481	Ciliary dyskinesia, primary, 32			5
HP:0002795	HP:0002093	Respiratory insufficiency	1	RSPH3 CL E G H	83861	21054	OMIM:616481	Ciliary dyskinesia, primary, 32			5
HP:0002795	HP:0006536	Airway obstruction	1	RSPH3 CL E G H	83861	21054	OMIM:616481	Ciliary dyskinesia, primary, 32			5
HP:0002795	HP:0012261	Abnormal respiratory motile cilium physiology	1	RSPH3 CL E G H	83861	21054	OMIM:616481	Ciliary dyskinesia, primary, 32			5
HP:0002795	HP:0002093	Respiratory insufficiency	1	RSPH3 CL E G H	83861	21054	ORPHA:244	Primary ciliary dyskinesia			5
HP:0002795	HP:0006536	Airway obstruction	1	RSPH3 CL E G H	83861	21054	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		5
HP:0002795	HP:0012735	Cough	1	RSPH3 CL E G H	83861	21054	ORPHA:244	Primary ciliary dyskinesia			5
HP:0002795	HP:0030829	Abnormal breath sound	1	RSPH3 CL E G H	83861	21054	ORPHA:244	Primary ciliary dyskinesia			5
HP:0002795	HP:0033036	Decreased nasal nitric oxide	1	RSPH4A CL E G H	345895	21558	OMIM:612649	Ciliary dyskinesia, primary, 11			58
HP:0002795	HP:0002093	Respiratory insufficiency	1	RSPH4A CL E G H	345895	21558	OMIM:612649	Ciliary dyskinesia, primary, 11			58
HP:0002795	HP:0012261	Abnormal respiratory motile cilium physiology	1	RSPH4A CL E G H	345895	21558	OMIM:612649	Ciliary dyskinesia, primary, 11			58
HP:0002795	HP:0002093	Respiratory insufficiency	1	RSPH4A CL E G H	345895	21558	ORPHA:244	Primary ciliary dyskinesia			58
HP:0002795	HP:0006536	Airway obstruction	1	RSPH4A CL E G H	345895	21558	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		58
HP:0002795	HP:0012735	Cough	1	RSPH4A CL E G H	345895	21558	ORPHA:244	Primary ciliary dyskinesia			58
HP:0002795	HP:0030829	Abnormal breath sound	1	RSPH4A CL E G H	345895	21558	ORPHA:244	Primary ciliary dyskinesia			58
HP:0002795	HP:0033036	Decreased nasal nitric oxide	1	RSPH9 CL E G H	221421	21057	OMIM:612650	CILIARY DYSKINESIA, PRIMARY, 12; CILD12			20
HP:0002795	HP:0002093	Respiratory insufficiency	1	RSPH9 CL E G H	221421	21057	OMIM:612650	CILIARY DYSKINESIA, PRIMARY, 12; CILD12			20
HP:0002795	HP:0006536	Airway obstruction	1	RSPH9 CL E G H	221421	21057	OMIM:612650	CILIARY DYSKINESIA, PRIMARY, 12; CILD12			20
HP:0002795	HP:0012261	Abnormal respiratory motile cilium physiology	1	RSPH9 CL E G H	221421	21057	OMIM:612650	CILIARY DYSKINESIA, PRIMARY, 12; CILD12			20
HP:0002795	HP:0002093	Respiratory insufficiency	1	RSPH9 CL E G H	221421	21057	ORPHA:244	Primary ciliary dyskinesia			20
HP:0002795	HP:0006536	Airway obstruction	1	RSPH9 CL E G H	221421	21057	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		20
HP:0002795	HP:0012735	Cough	1	RSPH9 CL E G H	221421	21057	ORPHA:244	Primary ciliary dyskinesia			20
HP:0002795	HP:0030829	Abnormal breath sound	1	RSPH9 CL E G H	221421	21057	ORPHA:244	Primary ciliary dyskinesia			20
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	RTEL1 CL E G H	51750	15888	ORPHA:2032	Idiopathic pulmonary fibrosis			77
HP:0002795	HP:0012735	Cough	1	RTEL1 CL E G H	51750	15888	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent		77
HP:0002795	HP:0030829	Abnormal breath sound	1	RTEL1 CL E G H	51750	15888	ORPHA:2032	Idiopathic pulmonary fibrosis			77
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	RTEL1 CL E G H	51750	15888	OMIM:616373	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3; PFBMFT3			77
HP:0002795	HP:0002093	Respiratory insufficiency	1	RTL1 CL E G H	388015	14665	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
HP:0002795	HP:0002093	Respiratory insufficiency	1	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0002795	HP:0002093	Respiratory insufficiency	1	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia			90
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia			90
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	RUNX2 CL E G H	860	10472	ORPHA:1452	Cleidocranial dysplasia			90
HP:0002795	HP:0002093	Respiratory insufficiency	1	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy			1200
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy			1200
HP:0002795	HP:0002093	Respiratory insufficiency	1	RYR1 CL E G H	6261	10483	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040282 - Frequent		1200
HP:0002795	HP:0002093	Respiratory insufficiency	1	RYR1 CL E G H	6261	10483	ORPHA:597	Central core disease			1200
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	RYR1 CL E G H	6261	10483	ORPHA:597	Central core disease			1200
HP:0002795	HP:0002093	Respiratory insufficiency	1	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia			1200
HP:0002795	HP:0002093	Respiratory insufficiency	1	RYR1 CL E G H	6261	10483	ORPHA:424107	Congenital myopathy with myasthenic-like onset			1200
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	RYR1 CL E G H	6261	10483	ORPHA:424107	Congenital myopathy with myasthenic-like onset			1200
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	RYR1 CL E G H	6261	10483	ORPHA:466650	Exercise-induced malignant hyperthermia			1200
HP:0002795	HP:0012415	Abnormal blood gas level	1	RYR1 CL E G H	6261	10483	ORPHA:466650	Exercise-induced malignant hyperthermia			1200
HP:0002795	HP:0030829	Abnormal breath sound	1	RYR1 CL E G H	6261	10483	ORPHA:466650	Exercise-induced malignant hyperthermia			1200
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	RYR1 CL E G H	6261	10483	ORPHA:423	Malignant hyperthermia of anesthesia			1200
HP:0002795	HP:0012415	Abnormal blood gas level	1	RYR1 CL E G H	6261	10483	ORPHA:423	Malignant hyperthermia of anesthesia			1200
HP:0002795	HP:0002093	Respiratory insufficiency	1	RYR1 CL E G H	6261	10483	OMIM:255320	Minicore myopathy with external ophthalmoplegia	.		1200
HP:0002795	HP:0002093	Respiratory insufficiency	1	RYR1 CL E G H	6261	10483	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.		1200
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	RYR1 CL E G H	6261	10483	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			1200
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	RYR1 CL E G H	6261	10483	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			1200
HP:0002795	HP:0002093	Respiratory insufficiency	1	SARS2 CL E G H	54938	17697	OMIM:613845	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome	.		60
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	SARS2 CL E G H	54938	17697	OMIM:613845	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome			60
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome			34
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement			34
HP:0002795	HP:0002093	Respiratory insufficiency	1	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1			26
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1			26
HP:0002795	HP:0002093	Respiratory insufficiency	1	SBF2 CL E G H	81846	2135	ORPHA:99956	Charcot-Marie-Tooth disease type 4B2			180
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	SBF2 CL E G H	81846	2135	ORPHA:99956	Charcot-Marie-Tooth disease type 4B2			180
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	SCARB2 CL E G H	950	1665	ORPHA:77259	Gaucher disease type 1			77
HP:0002795	HP:0030829	Abnormal breath sound	1	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome			11
HP:0002795	HP:0032933	Airway hyperresponsiveness	1	SCGB3A2 CL E G H	117156	18391	OMIM:600807	Asthma, susceptibility to			1
HP:0002795	HP:0002099	Asthma	1	SCGB3A2 CL E G H	117156	18391	OMIM:600807	Asthma, susceptibility to	.		1
HP:0002795	HP:0025427	Abnormal bronchus physiology	1	SCGB3A2 CL E G H	117156	18391	OMIM:600807	Asthma, susceptibility to			1
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SCN1B CL E G H	6324	10586	ORPHA:871	Familial progressive cardiac conduction defect			126
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SCN2A CL E G H	6326	10588	ORPHA:306	Benign familial infantile epilepsy			427
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SCN2A CL E G H	6326	10588	OMIM:607745	Seizures, benign familial infantile, 3			427
HP:0002795	HP:0002093	Respiratory insufficiency	1	SCN4A CL E G H	6329	10591	ORPHA:682	Hyperkalemic periodic paralysis	HP:0040283 - Occasional		263
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	SCN4A CL E G H	6329	10591	ORPHA:681	Hypokalemic periodic paralysis			263
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SCN4A CL E G H	6329	10591	OMIM:614198	Myasthenic syndrome, congenital, 16			263
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SCN4A CL E G H	6329	10591	ORPHA:99734	Myotonia fluctuans			263
HP:0002795	HP:0030829	Abnormal breath sound	1	SCN4A CL E G H	6329	10591	ORPHA:99734	Myotonia fluctuans			263
HP:0002795	HP:0002099	Asthma	1	SCN4A CL E G H	6329	10591	ORPHA:99735	Myotonia permanens	HP:0040283 - Occasional		263
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SCN4A CL E G H	6329	10591	ORPHA:99735	Myotonia permanens			263
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SCN4A CL E G H	6329	10591	OMIM:608390	Myotonia, potassium-aggravated			263
HP:0002795	HP:0030829	Abnormal breath sound	1	SCN4A CL E G H	6329	10591	OMIM:608390	Myotonia, potassium-aggravated			263
HP:0002795	HP:0002093	Respiratory insufficiency	1	SCN4A CL E G H	6329	10591	ORPHA:684	Paramyotonia congenita of Von Eulenburg			263
HP:0002795	HP:0030829	Abnormal breath sound	1	SCN4A CL E G H	6329	10591	OMIM:168300	Paramyotonia congenita of von eulenburg			263
HP:0002795	HP:0030829	Abnormal breath sound	1	SCN4A CL E G H	6329	10591	ORPHA:684	Paramyotonia congenita of Von Eulenburg			263
HP:0002795	HP:0002093	Respiratory insufficiency	1	SCN4A CL E G H	6329	10591	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			263
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SCN4A CL E G H	6329	10591	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			263
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	SCN4A CL E G H	6329	10591	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			263
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SCN5A CL E G H	6331	10593	ORPHA:1344	Atrial standstill			1134
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SCN5A CL E G H	6331	10593	ORPHA:871	Familial progressive cardiac conduction defect			1134
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SCN5A CL E G H	6331	10593	OMIM:113900	Progressive familial heart block, type IA			1134
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SCN5A CL E G H	6331	10593	OMIM:272120	Sudden infant death syndrome			1134
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SCN8A CL E G H	6334	10596	ORPHA:306	Benign familial infantile epilepsy			357
HP:0002795	HP:0031416	Abnormal nasal mucus secretion	1	SCN9A CL E G H	6335	10597	OMIM:167400	Paroxysmal extreme pain disorder			318
HP:0002795	HP:0012735	Cough	1	SCNN1A CL E G H	6337	10599	ORPHA:171876	Generalized pseudohypoaldosteronism type 1	HP:0040283 - Occasional		67
HP:0002795	HP:0030829	Abnormal breath sound	1	SCNN1A CL E G H	6337	10599	ORPHA:171876	Generalized pseudohypoaldosteronism type 1			67
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SCNN1A CL E G H	6337	10599	ORPHA:60033	Idiopathic bronchiectasis			67
HP:0002795	HP:0006536	Airway obstruction	1	SCNN1A CL E G H	6337	10599	ORPHA:60033	Idiopathic bronchiectasis			67
HP:0002795	HP:0012735	Cough	1	SCNN1A CL E G H	6337	10599	ORPHA:60033	Idiopathic bronchiectasis			67
HP:0002795	HP:0030829	Abnormal breath sound	1	SCNN1A CL E G H	6337	10599	ORPHA:60033	Idiopathic bronchiectasis			67
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	SCNN1A CL E G H	6337	10599	ORPHA:60033	Idiopathic bronchiectasis			67
HP:0002795	HP:0012735	Cough	1	SCNN1B CL E G H	6338	10600	ORPHA:171876	Generalized pseudohypoaldosteronism type 1	HP:0040283 - Occasional		61
HP:0002795	HP:0030829	Abnormal breath sound	1	SCNN1B CL E G H	6338	10600	ORPHA:171876	Generalized pseudohypoaldosteronism type 1			61
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SCNN1B CL E G H	6338	10600	ORPHA:60033	Idiopathic bronchiectasis			61
HP:0002795	HP:0006536	Airway obstruction	1	SCNN1B CL E G H	6338	10600	ORPHA:60033	Idiopathic bronchiectasis			61
HP:0002795	HP:0012735	Cough	1	SCNN1B CL E G H	6338	10600	ORPHA:60033	Idiopathic bronchiectasis			61
HP:0002795	HP:0030829	Abnormal breath sound	1	SCNN1B CL E G H	6338	10600	ORPHA:60033	Idiopathic bronchiectasis			61
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	SCNN1B CL E G H	6338	10600	ORPHA:60033	Idiopathic bronchiectasis			61
HP:0002795	HP:0012735	Cough	1	SCNN1G CL E G H	6340	10602	ORPHA:171876	Generalized pseudohypoaldosteronism type 1	HP:0040283 - Occasional		57
HP:0002795	HP:0030829	Abnormal breath sound	1	SCNN1G CL E G H	6340	10602	ORPHA:171876	Generalized pseudohypoaldosteronism type 1			57
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SCNN1G CL E G H	6340	10602	ORPHA:60033	Idiopathic bronchiectasis			57
HP:0002795	HP:0006536	Airway obstruction	1	SCNN1G CL E G H	6340	10602	ORPHA:60033	Idiopathic bronchiectasis			57
HP:0002795	HP:0012735	Cough	1	SCNN1G CL E G H	6340	10602	ORPHA:60033	Idiopathic bronchiectasis			57
HP:0002795	HP:0030829	Abnormal breath sound	1	SCNN1G CL E G H	6340	10602	ORPHA:60033	Idiopathic bronchiectasis			57
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	SCNN1G CL E G H	6340	10602	ORPHA:60033	Idiopathic bronchiectasis			57
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SCO1 CL E G H	6341	10603	OMIM:619048	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN4			46
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1			40
HP:0002795	HP:0030829	Abnormal breath sound	1	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1			40
HP:0002795	HP:0002093	Respiratory insufficiency	1	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy			40
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy			40
HP:0002795	HP:0002093	Respiratory insufficiency	1	SCYL2 CL E G H	55681	19286	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SCYL2 CL E G H	55681	19286	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	SCYL2 CL E G H	55681	19286	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SDCCAG8 CL E G H	10806	10671	OMIM:615993	Bardet-Biedl syndrome 16			61
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SDHA CL E G H	6389	10680	OMIM:613642	Cardiomyopathy, dilated, 1gg			304
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SDHA CL E G H	6389	10680	ORPHA:255241	Leigh syndrome with leukodystrophy			304
HP:0002795	HP:0002099	Asthma	1	SDHD CL E G H	6392	10683	ORPHA:100093	Carcinoid syndrome	HP:0040283 - Occasional		129
HP:0002795	HP:0025427	Abnormal bronchus physiology	1	SDHD CL E G H	6392	10683	ORPHA:100093	Carcinoid syndrome			129
HP:0002795	HP:0031416	Abnormal nasal mucus secretion	1	SDHD CL E G H	6392	10683	ORPHA:100093	Carcinoid syndrome			129
HP:0002795	HP:0002099	Asthma	1	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0002795	HP:0006536	Airway obstruction	1	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0002795	HP:0002835	Aspiration	1	SEC31A CL E G H	22872	17052	OMIM:618651	HALPERIN-BIRK SYNDROME; HLBKS
HP:0002795	HP:0002093	Respiratory insufficiency	1	SEC63 CL E G H	11231	21082	ORPHA:2924	Isolated polycystic liver disease	HP:0040283 - Occasional		137
HP:0002795	HP:0002093	Respiratory insufficiency	1	SELENON CL E G H	57190	15999	ORPHA:324604	Classic multiminicore myopathy			144
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SELENON CL E G H	57190	15999	ORPHA:324604	Classic multiminicore myopathy			144
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	SELENON CL E G H	57190	15999	ORPHA:324604	Classic multiminicore myopathy			144
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	SELENON CL E G H	57190	15999	ORPHA:324604	Classic multiminicore myopathy			144
HP:0002795	HP:0002093	Respiratory insufficiency	1	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy			144
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		144
HP:0002795	HP:0012415	Abnormal blood gas level	1	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy			144
HP:0002795	HP:0002093	Respiratory insufficiency	1	SELENON CL E G H	57190	15999	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.		144
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	SELENON CL E G H	57190	15999	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			144
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	SELENON CL E G H	57190	15999	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			144
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SELENON CL E G H	57190	15999	OMIM:602771	Rigid spine muscular dystrophy 1			144
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	SELENON CL E G H	57190	15999	OMIM:602771	Rigid spine muscular dystrophy 1			144
HP:0002795	HP:0002093	Respiratory insufficiency	1	SELENON CL E G H	57190	15999	ORPHA:97244	Rigid spine syndrome	HP:0040281 - Very frequent		144
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	SELENON CL E G H	57190	15999	ORPHA:97244	Rigid spine syndrome	HP:0040282 - Frequent		144
HP:0002795	HP:0002093	Respiratory insufficiency	1	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040283 - Occasional		16
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SEPSECS CL E G H	51091	30605	ORPHA:2524	Pontocerebellar hypoplasia type 2			66
HP:0002795	HP:0002093	Respiratory insufficiency	1	SEPTIN9 CL E G H	10801	7323	ORPHA:2901	Neuralgic amyotrophy	HP:0040283 - Occasional
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SERPINA1 CL E G H	5265	8941	OMIM:613490	Alpha-1-Antitrypsin deficiency			131
HP:0002795	HP:0006536	Airway obstruction	1	SERPINA1 CL E G H	5265	8941	OMIM:613490	Alpha-1-Antitrypsin deficiency			131
HP:0002795	HP:0012735	Cough	1	SERPINA1 CL E G H	5265	8941	OMIM:613490	Alpha-1-Antitrypsin deficiency			131
HP:0002795	HP:0030829	Abnormal breath sound	1	SERPINA1 CL E G H	5265	8941	OMIM:613490	Alpha-1-Antitrypsin deficiency			131
HP:0002795	HP:0002099	Asthma	1	SERPINA1 CL E G H	5265	8941	ORPHA:586	Cystic fibrosis			131
HP:0002795	HP:0006536	Airway obstruction	1	SERPINA1 CL E G H	5265	8941	ORPHA:586	Cystic fibrosis			131
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	SERPINA1 CL E G H	5265	8941	ORPHA:586	Cystic fibrosis			131
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	SERPINC1 CL E G H	462	775	OMIM:613118	Antithrombin III deficiency			88
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	SERPINC1 CL E G H	462	775	ORPHA:82	Hereditary thrombophilia due to congenital antithrombin deficiency			88
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SERPING1 CL E G H	710	1228	ORPHA:100050	Hereditary angioedema type 1			64
HP:0002795	HP:0030829	Abnormal breath sound	1	SERPING1 CL E G H	710	1228	ORPHA:100050	Hereditary angioedema type 1			64
HP:0002795	HP:0006528	Chronic lung disease	1	SERPINH1 CL E G H	871	1546	OMIM:613848	Osteogenesis imperfecta, type X	.		52
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome			143
HP:0002795	HP:0002093	Respiratory insufficiency	1	SF3B4 CL E G H	10262	10771	ORPHA:245	Nager syndrome	HP:0040282 - Frequent		49
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SFTPA1 CL E G H	653509	10798	ORPHA:2032	Idiopathic pulmonary fibrosis			19
HP:0002795	HP:0012735	Cough	1	SFTPA1 CL E G H	653509	10798	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent		19
HP:0002795	HP:0030829	Abnormal breath sound	1	SFTPA1 CL E G H	653509	10798	ORPHA:2032	Idiopathic pulmonary fibrosis			19
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SFTPA1 CL E G H	653509	10798	OMIM:619611	INTERSTITIAL LUNG DISEASE 1; ILD1			19
HP:0002795	HP:0012735	Cough	1	SFTPA1 CL E G H	653509	10798	OMIM:619611	INTERSTITIAL LUNG DISEASE 1; ILD1			19
HP:0002795	HP:0030829	Abnormal breath sound	1	SFTPA1 CL E G H	653509	10798	OMIM:619611	INTERSTITIAL LUNG DISEASE 1; ILD1			19
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	SFTPA1 CL E G H	653509	10798	OMIM:619611	INTERSTITIAL LUNG DISEASE 1; ILD1			19
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SFTPA2 CL E G H	729238	10799	ORPHA:2032	Idiopathic pulmonary fibrosis			10
HP:0002795	HP:0012735	Cough	1	SFTPA2 CL E G H	729238	10799	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent		10
HP:0002795	HP:0030829	Abnormal breath sound	1	SFTPA2 CL E G H	729238	10799	ORPHA:2032	Idiopathic pulmonary fibrosis			10
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SFTPA2 CL E G H	729238	10799	OMIM:178500	Pulmonary fibrosis, idiopathic			10
HP:0002795	HP:0012735	Cough	1	SFTPA2 CL E G H	729238	10799	OMIM:178500	Pulmonary fibrosis, idiopathic			10
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	SFTPA2 CL E G H	729238	10799	OMIM:178500	Pulmonary fibrosis, idiopathic			10
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	SFTPA2 CL E G H	729238	10799	OMIM:178500	Pulmonary fibrosis, idiopathic			10
HP:0002795	HP:0002093	Respiratory insufficiency	1	SFTPB CL E G H	6439	10801	ORPHA:70587	Infant acute respiratory distress syndrome			51
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SFTPB CL E G H	6439	10801	ORPHA:70587	Infant acute respiratory distress syndrome			51
HP:0002795	HP:0012415	Abnormal blood gas level	1	SFTPB CL E G H	6439	10801	ORPHA:70587	Infant acute respiratory distress syndrome			51
HP:0002795	HP:0002093	Respiratory insufficiency	1	SFTPB CL E G H	6439	10801	ORPHA:217563	Neonatal acute respiratory distress due to SP-B deficiency			51
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SFTPB CL E G H	6439	10801	ORPHA:217563	Neonatal acute respiratory distress due to SP-B deficiency			51
HP:0002795	HP:0006528	Chronic lung disease	1	SFTPB CL E G H	6439	10801	ORPHA:217563	Neonatal acute respiratory distress due to SP-B deficiency	HP:0040283 - Occasional		51
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	SFTPB CL E G H	6439	10801	ORPHA:217563	Neonatal acute respiratory distress due to SP-B deficiency			51
HP:0002795	HP:0002093	Respiratory insufficiency	1	SFTPB CL E G H	6439	10801	OMIM:265120	Surfactant metabolism dysfunction, pulmonary, 1			51
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SFTPB CL E G H	6439	10801	OMIM:265120	Surfactant metabolism dysfunction, pulmonary, 1			51
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	SFTPB CL E G H	6439	10801	OMIM:265120	Surfactant metabolism dysfunction, pulmonary, 1			51
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SFTPC CL E G H	6440	10802	ORPHA:2032	Idiopathic pulmonary fibrosis			33
HP:0002795	HP:0012735	Cough	1	SFTPC CL E G H	6440	10802	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent		33
HP:0002795	HP:0030829	Abnormal breath sound	1	SFTPC CL E G H	6440	10802	ORPHA:2032	Idiopathic pulmonary fibrosis			33
HP:0002795	HP:0002093	Respiratory insufficiency	1	SFTPC CL E G H	6440	10802	ORPHA:70587	Infant acute respiratory distress syndrome			33
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SFTPC CL E G H	6440	10802	ORPHA:70587	Infant acute respiratory distress syndrome			33
HP:0002795	HP:0012415	Abnormal blood gas level	1	SFTPC CL E G H	6440	10802	ORPHA:70587	Infant acute respiratory distress syndrome			33
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SFTPC CL E G H	6440	10802	OMIM:178500	Pulmonary fibrosis, idiopathic			33
HP:0002795	HP:0012735	Cough	1	SFTPC CL E G H	6440	10802	OMIM:178500	Pulmonary fibrosis, idiopathic			33
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	SFTPC CL E G H	6440	10802	OMIM:178500	Pulmonary fibrosis, idiopathic			33
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	SFTPC CL E G H	6440	10802	OMIM:178500	Pulmonary fibrosis, idiopathic			33
HP:0002795	HP:0002093	Respiratory insufficiency	1	SFTPC CL E G H	6440	10802	OMIM:610913	Surfactant metabolism dysfunction, pulmonary, 2			33
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SFTPC CL E G H	6440	10802	OMIM:610913	Surfactant metabolism dysfunction, pulmonary, 2			33
HP:0002795	HP:0012415	Abnormal blood gas level	1	SFTPC CL E G H	6440	10802	OMIM:610913	Surfactant metabolism dysfunction, pulmonary, 2			33
HP:0002795	HP:0012735	Cough	1	SFTPC CL E G H	6440	10802	OMIM:610913	Surfactant metabolism dysfunction, pulmonary, 2			33
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	SFTPC CL E G H	6440	10802	OMIM:610913	Surfactant metabolism dysfunction, pulmonary, 2			33
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	SFTPC CL E G H	6440	10802	OMIM:610913	Surfactant metabolism dysfunction, pulmonary, 2			33
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	SGCG CL E G H	6445	10809	OMIM:253700	Muscular dystrophy, limb-girdle, type 2C			83
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SH2B3 CL E G H	10019	29605	OMIM:133100	Erythrocytosis, familial, 1			4
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SH3BP2 CL E G H	6452	10825	ORPHA:184	Cherubism			177
HP:0002795	HP:0006536	Airway obstruction	1	SH3BP2 CL E G H	6452	10825	ORPHA:184	Cherubism			177
HP:0002795	HP:0002093	Respiratory insufficiency	1	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C	HP:0040283 - Occasional		493
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C			493
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		67
HP:0002795	HP:0006528	Chronic lung disease	1	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		67
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		67
HP:0002795	HP:0006528	Chronic lung disease	1	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		67
HP:0002795	HP:0002099	Asthma	1	SHH CL E G H	6469	10848	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		67
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		67
HP:0002795	HP:0006528	Chronic lung disease	1	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		67
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		67
HP:0002795	HP:0006528	Chronic lung disease	1	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		67
HP:0002795	HP:0002093	Respiratory insufficiency	1	SHPK CL E G H	23729	1492	ORPHA:440713	Isolated sedoheptulokinase deficiency			2
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SIK1 CL E G H	150094	11142	OMIM:616341	Deafness, autosomal dominant 67			11
HP:0002795	HP:0002099	Asthma	1	SIK3 CL E G H	23387	29165	OMIM:618162	Spondyloepimetaphyseal dysplasia, Krakow type	.
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome			40
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0002795	HP:0006528	Chronic lung disease	1	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		32
HP:0002795	HP:0006528	Chronic lung disease	1	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0002795	HP:0002099	Asthma	1	SIX3 CL E G H	6496	10889	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		32
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		32
HP:0002795	HP:0006528	Chronic lung disease	1	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		32
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0002795	HP:0006528	Chronic lung disease	1	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome			150
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome			150
HP:0002795	HP:0002099	Asthma	1	SLC11A1 CL E G H	6556	10907	ORPHA:586	Cystic fibrosis			2
HP:0002795	HP:0006536	Airway obstruction	1	SLC11A1 CL E G H	6556	10907	ORPHA:586	Cystic fibrosis			2
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	SLC11A1 CL E G H	6556	10907	ORPHA:586	Cystic fibrosis			2
HP:0002795	HP:0012735	Cough	1	SLC11A1 CL E G H	6556	10907	ORPHA:3389	Tuberculosis	HP:0040282 - Frequent		2
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome			145
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy			163
HP:0002795	HP:0030829	Abnormal breath sound	1	SLC18A2 CL E G H	6571	10935	ORPHA:352649	Brain dopamine-serotonin vesicular transport disease			2
HP:0002795	HP:0002093	Respiratory insufficiency	1	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent		2
HP:0002795	HP:0002093	Respiratory insufficiency	1	SLC18A3 CL E G H	6572	10936	OMIM:617239	Myasthenic syndrome, congenital, 21, presynaptic	.		2
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SLC18A3 CL E G H	6572	10936	OMIM:617239	Myasthenic syndrome, congenital, 21, presynaptic			2
HP:0002795	HP:0002093	Respiratory insufficiency	1	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0002795	HP:0030829	Abnormal breath sound	1	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0002795	HP:0002093	Respiratory insufficiency	1	SLC19A3 CL E G H	80704	16266	ORPHA:263410	Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome	HP:0040283 - Occasional		110
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SLC19A3 CL E G H	80704	16266	ORPHA:255241	Leigh syndrome with leukodystrophy			110
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood			63
HP:0002795	HP:0002835	Aspiration	1	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional		63
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SLC22A5 CL E G H	6584	10969	OMIM:212140	Carnitine deficiency, systemic primary			207
HP:0002795	HP:0002093	Respiratory insufficiency	1	SLC25A1 CL E G H	6576	10979	OMIM:615182	Combined d-2- and l-2-hydroxyglutaric aciduria	.		28
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SLC25A1 CL E G H	6576	10979	OMIM:615182	Combined d-2- and l-2-hydroxyglutaric aciduria			28
HP:0002795	HP:0030829	Abnormal breath sound	1	SLC25A1 CL E G H	6576	10979	OMIM:615182	Combined d-2- and l-2-hydroxyglutaric aciduria			28
HP:0002795	HP:0002093	Respiratory insufficiency	1	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes			28
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes			28
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes			28
HP:0002795	HP:0030829	Abnormal breath sound	1	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes			28
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39			44
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SLC25A15 CL E G H	10166	10985	ORPHA:415	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome			88
HP:0002795	HP:0002093	Respiratory insufficiency	1	SLC25A20 CL E G H	788	1421	ORPHA:159	Carnitine-acylcarnitine translocase deficiency	HP:0040281 - Very frequent		40
HP:0002795	HP:0002093	Respiratory insufficiency	1	SLC25A20 CL E G H	788	1421	OMIM:212138	Carnitine-acylcarnitine translocase deficiency			40
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SLC25A20 CL E G H	788	1421	ORPHA:159	Carnitine-acylcarnitine translocase deficiency			40
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	SLC25A21 CL E G H	89874	14411	OMIM:618811	MITOCHONDRIAL DNA DEPLETION SYNDROME 18; MTDPS18
HP:0002795	HP:0002093	Respiratory insufficiency	1	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome	.
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0002795	HP:0002093	Respiratory insufficiency	1	SLC25A26 CL E G H	115286	20661	OMIM:616794	Combined oxidative phosphorylation deficiency 28			5
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SLC25A3 CL E G H	5250	10989	ORPHA:91130	Cardiomyopathy-hypotonia-lactic acidosis syndrome			35
HP:0002795	HP:0002093	Respiratory insufficiency	1	SLC25A3 CL E G H	5250	10989	OMIM:610773	MITOCHONDRIAL PHOSPHATE CARRIER DEFICIENCY			35
HP:0002795	HP:0002093	Respiratory insufficiency	1	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		68
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			68
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SLC25A4 CL E G H	291	10990	OMIM:615418	Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)			68
HP:0002795	HP:0002093	Respiratory insufficiency	1	SLC25A4 CL E G H	291	10990	OMIM:617184	Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant			68
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	SLC25A4 CL E G H	291	10990	OMIM:617184	Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant			68
HP:0002795	HP:0002093	Respiratory insufficiency	1	SLC25A46 CL E G H	91137	25198	OMIM:616505	Neuropathy, hereditary motor and sensory, type VIB			14
HP:0002795	HP:0002093	Respiratory insufficiency	1	SLC25A46 CL E G H	91137	25198	ORPHA:2254	Pontocerebellar hypoplasia type 1			14
HP:0002795	HP:0030829	Abnormal breath sound	1	SLC25A46 CL E G H	91137	25198	ORPHA:2254	Pontocerebellar hypoplasia type 1			14
HP:0002795	HP:0002093	Respiratory insufficiency	1	SLC25A46 CL E G H	91137	25198	OMIM:619303	PONTOCEREBELLAR HYPOPLASIA, TYPE 1E; PCH1E			14
HP:0002795	HP:0002093	Respiratory insufficiency	1	SLC26A2 CL E G H	1836	10994	OMIM:600972	Achondrogenesis, type IB	.		166
HP:0002795	HP:0002093	Respiratory insufficiency	1	SLC26A2 CL E G H	1836	10994	OMIM:256050	Atelosteogenesis, type II			166
HP:0002795	HP:0002093	Respiratory insufficiency	1	SLC26A2 CL E G H	1836	10994	ORPHA:628	Diastrophic dysplasia	HP:0040282 - Frequent		166
HP:0002795	HP:0002093	Respiratory insufficiency	1	SLC26A4 CL E G H	5172	8818	ORPHA:705	Pendred syndrome	HP:0040283 - Occasional		274
HP:0002795	HP:0002099	Asthma	1	SLC26A9 CL E G H	115019	14469	ORPHA:586	Cystic fibrosis			5
HP:0002795	HP:0006536	Airway obstruction	1	SLC26A9 CL E G H	115019	14469	ORPHA:586	Cystic fibrosis			5
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	SLC26A9 CL E G H	115019	14469	ORPHA:586	Cystic fibrosis			5
HP:0002795	HP:0002093	Respiratory insufficiency	1	SLC27A4 CL E G H	10999	10998	OMIM:608649	ICHTHYOSIS PREMATURITY SYNDROME; IPS			26
HP:0002795	HP:0002099	Asthma	1	SLC27A4 CL E G H	10999	10998	OMIM:608649	ICHTHYOSIS PREMATURITY SYNDROME; IPS			26
HP:0002795	HP:0002093	Respiratory insufficiency	1	SLC27A4 CL E G H	10999	10998	ORPHA:88621	Ichthyosis-prematurity syndrome			26
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome			68
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SLC2A1 CL E G H	6513	11005	ORPHA:64280	Childhood absence epilepsy			255
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SLC2A1 CL E G H	6513	11005	ORPHA:71277	Classic glucose transporter type 1 deficiency syndrome			255
HP:0002795	HP:0002093	Respiratory insufficiency	1	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome			178
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome			178
HP:0002795	HP:0002093	Respiratory insufficiency	1	SLC30A9 CL E G H	10463	1329	OMIM:617595	Birk-Landau-Perez syndrome			1
HP:0002795	HP:0002093	Respiratory insufficiency	1	SLC34A2 CL E G H	10568	11020	ORPHA:60025	Pulmonary alveolar microlithiasis	HP:0040283 - Occasional		7
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SLC34A2 CL E G H	10568	11020	ORPHA:60025	Pulmonary alveolar microlithiasis			7
HP:0002795	HP:0006520	Progressive pulmonary function impairment	1	SLC34A2 CL E G H	10568	11020	OMIM:265100	Pulmonary alveolar microlithiasis	.		7
HP:0002795	HP:0012415	Abnormal blood gas level	1	SLC34A2 CL E G H	10568	11020	ORPHA:60025	Pulmonary alveolar microlithiasis			7
HP:0002795	HP:0012735	Cough	1	SLC34A2 CL E G H	10568	11020	ORPHA:60025	Pulmonary alveolar microlithiasis			7
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	SLC34A2 CL E G H	10568	11020	ORPHA:60025	Pulmonary alveolar microlithiasis			7
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	SLC34A2 CL E G H	10568	11020	OMIM:265100	Pulmonary alveolar microlithiasis			7
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	SLC34A2 CL E G H	10568	11020	ORPHA:60025	Pulmonary alveolar microlithiasis			7
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SLC35A1 CL E G H	10559	11021	ORPHA:238459	SLC35A1-CDG			24
HP:0002795	HP:0012415	Abnormal blood gas level	1	SLC35A1 CL E G H	10559	11021	ORPHA:238459	SLC35A1-CDG			24
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib			110
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic			110
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG			11
HP:0002795	HP:0012735	Cough	1	SLC41A1 CL E G H	254428	19429	OMIM:619468	NEPHRONOPHTHISIS-LIKE NEPHROPATHY 2; NPHPL2
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	SLC4A1 CL E G H	6521	11027	ORPHA:3202	Dehydrated hereditary stomatocytosis			109
HP:0002795	HP:0002093	Respiratory insufficiency	1	SLC52A2 CL E G H	79581	30224	OMIM:614707	Brown-Vialetto-Van laere syndrome 2	.		47
HP:0002795	HP:0002093	Respiratory insufficiency	1	SLC52A3 CL E G H	113278	16187	OMIM:211530	Brown-Vialetto-Van laere syndrome 1	.		51
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SLC52A3 CL E G H	113278	16187	OMIM:211530	Brown-Vialetto-Van laere syndrome 1			51
HP:0002795	HP:0030829	Abnormal breath sound	1	SLC52A3 CL E G H	113278	16187	OMIM:211530	Brown-Vialetto-Van laere syndrome 1			51
HP:0002795	HP:0030829	Abnormal breath sound	1	SLC52A3 CL E G H	113278	16187	OMIM:211500	Bulbar palsy, progressive, of childhood			51
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SLC5A7 CL E G H	60482	14025	OMIM:617143	Myasthenic syndrome, congenital, 20, presynaptic			9
HP:0002795	HP:0030829	Abnormal breath sound	1	SLC5A7 CL E G H	60482	14025	OMIM:617143	Myasthenic syndrome, congenital, 20, presynaptic			9
HP:0002795	HP:0002093	Respiratory insufficiency	1	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes			9
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes			9
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes			9
HP:0002795	HP:0030829	Abnormal breath sound	1	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes			9
HP:0002795	HP:0002099	Asthma	1	SLC6A14 CL E G H	11254	11047	ORPHA:586	Cystic fibrosis
HP:0002795	HP:0006536	Airway obstruction	1	SLC6A14 CL E G H	11254	11047	ORPHA:586	Cystic fibrosis
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	SLC6A14 CL E G H	11254	11047	ORPHA:586	Cystic fibrosis
HP:0002795	HP:0002093	Respiratory insufficiency	1	SLC6A5 CL E G H	9152	11051	OMIM:614618	Hyperekplexia 3			81
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SLC6A5 CL E G H	9152	11051	OMIM:614618	Hyperekplexia 3			81
HP:0002795	HP:0002093	Respiratory insufficiency	1	SLC6A9 CL E G H	6536	11056	OMIM:617301	Glycine encephalopathy with normal serum glycine			4
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SLC6A9 CL E G H	6536	11056	OMIM:617301	Glycine encephalopathy with normal serum glycine			4
HP:0002795	HP:0002093	Respiratory insufficiency	1	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance	HP:0040282 - Frequent		104
HP:0002795	HP:0002093	Respiratory insufficiency	1	SLC7A7 CL E G H	9056	11065	OMIM:222700	Lysinuric protein intolerance	.		104
HP:0002795	HP:0002099	Asthma	1	SLC9A3 CL E G H	6550	11073	ORPHA:586	Cystic fibrosis			7
HP:0002795	HP:0006536	Airway obstruction	1	SLC9A3 CL E G H	6550	11073	ORPHA:586	Cystic fibrosis			7
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	SLC9A3 CL E G H	6550	11073	ORPHA:586	Cystic fibrosis			7
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SMAD2 CL E G H	4087	6768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			7
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SMAD3 CL E G H	4088	6769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			260
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SMAD4 CL E G H	4089	6770	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			504
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	SMAD4 CL E G H	4089	6770	ORPHA:774	Hereditary hemorrhagic telangiectasia			504
HP:0002795	HP:0002093	Respiratory insufficiency	1	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome	HP:0040283 - Occasional		504
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	SMAD9 CL E G H	4093	6774	OMIM:615342	Pulmonary hypertension, primary, 2			132
HP:0002795	HP:0002093	Respiratory insufficiency	1	SMARCA2 CL E G H	6595	11098	ORPHA:2728	Blepharophimosis-intellectual disability syndrome, Ohdo type			146
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type			74
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type			74
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia			74
HP:0002795	HP:0006520	Progressive pulmonary function impairment	1	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040284 - Very rare		87
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040284 - Very rare		87
HP:0002795	HP:0006520	Progressive pulmonary function impairment	1	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040284 - Very rare		47
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040284 - Very rare		47
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SMC1A CL E G H	8243	11111	ORPHA:3095	Atypical Rett syndrome	HP:0040281 - Very frequent		135
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		135
HP:0002795	HP:0006528	Chronic lung disease	1	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		135
HP:0002795	HP:0002093	Respiratory insufficiency	1	SMN1 CL E G H	6606	11117	OMIM:253300	Spinal muscular atrophy, type I	.		22
HP:0002795	HP:0006520	Progressive pulmonary function impairment	1	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040284 - Very rare		22
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040284 - Very rare		22
HP:0002795	HP:0002093	Respiratory insufficiency	1	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B			164
HP:0002795	HP:0006520	Progressive pulmonary function impairment	1	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B	HP:0040282 - Frequent		164
HP:0002795	HP:0012415	Abnormal blood gas level	1	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B	HP:0040282 - Frequent		164
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SMPD1 CL E G H	6609	11120	OMIM:607616	Niemann-pick disease, type B			164
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	SMPD1 CL E G H	6609	11120	OMIM:607616	Niemann-pick disease, type B			164
HP:0002795	HP:0002093	Respiratory insufficiency	1	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA			1
HP:0002795	HP:0002093	Respiratory insufficiency	1	SNAP25 CL E G H	6616	11132	OMIM:616330	Myasthenic syndrome, congenital, 18	.	HP:0003623 - Neonatal onset	2
HP:0002795	HP:0002093	Respiratory insufficiency	1	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0002795	HP:0030829	Abnormal breath sound	1	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0002795	HP:0002093	Respiratory insufficiency	1	SNRPB CL E G H	6628	11153	ORPHA:1393	Cerebrocostomandibular syndrome			6
HP:0002795	HP:0002093	Respiratory insufficiency	1	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome			6
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			37
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			37
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			37
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation			37
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SNX10 CL E G H	29887	14974	ORPHA:667	Autosomal recessive malignant osteopetrosis			2
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	SNX10 CL E G H	29887	14974	ORPHA:667	Autosomal recessive malignant osteopetrosis			2
HP:0002795	HP:0002093	Respiratory insufficiency	1	SOD1 CL E G H	6647	11179	ORPHA:803	Amyotrophic lateral sclerosis			53
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SOD1 CL E G H	6647	11179	ORPHA:803	Amyotrophic lateral sclerosis			53
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SOD1 CL E G H	6647	11179	OMIM:105400	Amyotrophic lateral sclerosis 1			53
HP:0002795	HP:0002093	Respiratory insufficiency	1	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome			12
HP:0002795	HP:0002093	Respiratory insufficiency	1	SOX9 CL E G H	6662	11204	ORPHA:140	Campomelic dysplasia	HP:0040281 - Very frequent		109
HP:0002795	HP:0002093	Respiratory insufficiency	1	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia			109
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia			109
HP:0002795	HP:0030829	Abnormal breath sound	1	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia			109
HP:0002795	HP:0002093	Respiratory insufficiency	1	SOX9 CL E G H	6662	11204	ORPHA:718	Isolated Pierre Robin syndrome			109
HP:0002795	HP:0006536	Airway obstruction	1	SOX9 CL E G H	6662	11204	ORPHA:718	Isolated Pierre Robin syndrome			109
HP:0002795	HP:0012735	Cough	1	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome	HP:0040282 - Frequent		49
HP:0002795	HP:0033036	Decreased nasal nitric oxide	1	SPAG1 CL E G H	6674	11212	OMIM:615505	Ciliary dyskinesia, primary, 28			45
HP:0002795	HP:0002093	Respiratory insufficiency	1	SPAG1 CL E G H	6674	11212	OMIM:615505	Ciliary dyskinesia, primary, 28			45
HP:0002795	HP:0012261	Abnormal respiratory motile cilium physiology	1	SPAG1 CL E G H	6674	11212	OMIM:615505	Ciliary dyskinesia, primary, 28			45
HP:0002795	HP:0002093	Respiratory insufficiency	1	SPAG1 CL E G H	6674	11212	ORPHA:244	Primary ciliary dyskinesia			45
HP:0002795	HP:0006536	Airway obstruction	1	SPAG1 CL E G H	6674	11212	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		45
HP:0002795	HP:0012735	Cough	1	SPAG1 CL E G H	6674	11212	ORPHA:244	Primary ciliary dyskinesia			45
HP:0002795	HP:0030829	Abnormal breath sound	1	SPAG1 CL E G H	6674	11212	ORPHA:244	Primary ciliary dyskinesia			45
HP:0002795	HP:0002093	Respiratory insufficiency	1	SPEF2 CL E G H	79925	26293	ORPHA:244	Primary ciliary dyskinesia			15
HP:0002795	HP:0006536	Airway obstruction	1	SPEF2 CL E G H	79925	26293	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		15
HP:0002795	HP:0012735	Cough	1	SPEF2 CL E G H	79925	26293	ORPHA:244	Primary ciliary dyskinesia			15
HP:0002795	HP:0030829	Abnormal breath sound	1	SPEF2 CL E G H	79925	26293	ORPHA:244	Primary ciliary dyskinesia			15
HP:0002795	HP:0002093	Respiratory insufficiency	1	SPEG CL E G H	10290	16901	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040282 - Frequent		20
HP:0002795	HP:0002093	Respiratory insufficiency	1	SPEG CL E G H	10290	16901	OMIM:615959	Myopathy, centronuclear, 5	.		20
HP:0002795	HP:0002093	Respiratory insufficiency	1	SPG11 CL E G H	80208	11226	OMIM:602099	Amyotrophic lateral sclerosis 5, juvenile			287
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	SPG11 CL E G H	80208	11226	OMIM:602099	Amyotrophic lateral sclerosis 5, juvenile			287
HP:0002795	HP:0002099	Asthma	1	SPINK5 CL E G H	11005	15464	OMIM:256500	Netherton syndrome	.		100
HP:0002795	HP:0002099	Asthma	1	SPINK5 CL E G H	11005	15464	ORPHA:634	Netherton syndrome	HP:0040281 - Very frequent		100
HP:0002795	HP:0002093	Respiratory insufficiency	1	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1			16
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2			16
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SPP1 CL E G H	6696	11255	ORPHA:93552	Pediatric systemic lupus erythematosus
HP:0002795	HP:0012735	Cough	1	SPTLC1 CL E G H	10558	11277	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040283 - Occasional		54
HP:0002795	HP:0012735	Cough	1	SPTLC2 CL E G H	9517	11278	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040283 - Occasional		149
HP:0002795	HP:0002093	Respiratory insufficiency	1	SQSTM1 CL E G H	8878	11280	ORPHA:803	Amyotrophic lateral sclerosis			62
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SQSTM1 CL E G H	8878	11280	ORPHA:803	Amyotrophic lateral sclerosis			62
HP:0002795	HP:0031416	Abnormal nasal mucus secretion	1	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary			1
HP:0002795	HP:0002093	Respiratory insufficiency	1	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria			50
HP:0002795	HP:0002835	Aspiration	1	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional		50
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SRPX2 CL E G H	27286	30668	ORPHA:1945	Rolandic epilepsy			50
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SSR4 CL E G H	6748	11326	OMIM:300934	Congenital disorder of glycosylation, type Iy			12
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	STAC3 CL E G H	246329	28423	OMIM:255995	Myopathy, congenital, bailey-bloch			14
HP:0002795	HP:0002093	Respiratory insufficiency	1	STAC3 CL E G H	246329	28423	ORPHA:168572	Native American myopathy	HP:0040282 - Frequent		14
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0002795	HP:0006528	Chronic lung disease	1	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0002795	HP:0006528	Chronic lung disease	1	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome			89
HP:0002795	HP:0012735	Cough	1	STAT1 CL E G H	6772	11362	OMIM:614162	Immunodeficiency 31C			89
HP:0002795	HP:0002093	Respiratory insufficiency	1	STAT2 CL E G H	6773	11363	OMIM:618886	PSEUDO-TORCH SYNDROME 3; PTORCH3			9
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	STAT2 CL E G H	6773	11363	OMIM:618886	PSEUDO-TORCH SYNDROME 3; PTORCH3			9
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	STAT3 CL E G H	6774	11364	ORPHA:520	Acute promyelocytic leukemia			110
HP:0002795	HP:0012735	Cough	1	STAT3 CL E G H	6774	11364	ORPHA:520	Acute promyelocytic leukemia			110
HP:0002795	HP:0012735	Cough	1	STAT3 CL E G H	6774	11364	ORPHA:2314	Autosomal dominant hyper-IgE syndrome	HP:0040282 - Frequent		110
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease			2
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	STAT4 CL E G H	6775	11365	ORPHA:93552	Pediatric systemic lupus erythematosus			2
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	STAT5B CL E G H	6777	11367	ORPHA:520	Acute promyelocytic leukemia			12
HP:0002795	HP:0012735	Cough	1	STAT5B CL E G H	6777	11367	ORPHA:520	Acute promyelocytic leukemia			12
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	STAT5B CL E G H	6777	11367	OMIM:245590	GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY			12
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		99
HP:0002795	HP:0006528	Chronic lung disease	1	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		99
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		99
HP:0002795	HP:0006528	Chronic lung disease	1	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		99
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		99
HP:0002795	HP:0006528	Chronic lung disease	1	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		99
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		99
HP:0002795	HP:0006528	Chronic lung disease	1	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		99
HP:0002795	HP:0002093	Respiratory insufficiency	1	STIM1 CL E G H	6786	11386	OMIM:160565	Myopathy, tubular aggregate, 1	HP:0040283 - Occasional		31
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	STING1 CL E G H	340061	27962	OMIM:615934	STING-associated vasculopathy, infantile-onset
HP:0002795	HP:0012261	Abnormal respiratory motile cilium physiology	1	STK36 CL E G H	27148	17209	OMIM:619436	CILIARY DYSKINESIA, PRIMARY, 46; CILD46			3
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	STK36 CL E G H	27148	17209	OMIM:619436	CILIARY DYSKINESIA, PRIMARY, 46; CILD46			3
HP:0002795	HP:0002093	Respiratory insufficiency	1	STK36 CL E G H	27148	17209	ORPHA:244	Primary ciliary dyskinesia			3
HP:0002795	HP:0006536	Airway obstruction	1	STK36 CL E G H	27148	17209	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		3
HP:0002795	HP:0012735	Cough	1	STK36 CL E G H	27148	17209	ORPHA:244	Primary ciliary dyskinesia			3
HP:0002795	HP:0030829	Abnormal breath sound	1	STK36 CL E G H	27148	17209	ORPHA:244	Primary ciliary dyskinesia			3
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	STN1 CL E G H	79991	26200	ORPHA:2032	Idiopathic pulmonary fibrosis			2
HP:0002795	HP:0012735	Cough	1	STN1 CL E G H	79991	26200	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent		2
HP:0002795	HP:0030829	Abnormal breath sound	1	STN1 CL E G H	79991	26200	ORPHA:2032	Idiopathic pulmonary fibrosis			2
HP:0002795	HP:0002093	Respiratory insufficiency	1	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9	.		71
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	STT3B CL E G H	201595	30611	OMIM:615597	Congenital disorder of glycosylation, type Ix			18
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	STT3B CL E G H	201595	30611	ORPHA:370924	STT3B-CDG			18
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	STX16 CL E G H	8675	11431	ORPHA:94089	Pseudohypoparathyroidism type 1B			86
HP:0002795	HP:0002099	Asthma	1	STX1A CL E G H	6804	11433	ORPHA:586	Cystic fibrosis
HP:0002795	HP:0006536	Airway obstruction	1	STX1A CL E G H	6804	11433	ORPHA:586	Cystic fibrosis
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	STX1A CL E G H	6804	11433	ORPHA:586	Cystic fibrosis
HP:0002795	HP:0002099	Asthma	1	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040282 - Frequent		237
HP:0002795	HP:0002093	Respiratory insufficiency	1	SUCLA2 CL E G H	8803	11448	OMIM:612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)			66
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	SUCLA2 CL E G H	8803	11448	OMIM:612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)			66
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria			60
HP:0002795	HP:0002093	Respiratory insufficiency	1	SUCLG1 CL E G H	8802	11449	OMIM:245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)			60
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SUFU CL E G H	51684	16466	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		124
HP:0002795	HP:0006520	Progressive pulmonary function impairment	1	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040284 - Very rare		124
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040284 - Very rare		124
HP:0002795	HP:0002099	Asthma	1	SUFU CL E G H	51684	16466	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		124
HP:0002795	HP:0002093	Respiratory insufficiency	1	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy			73
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy			73
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SURF1 CL E G H	6834	11474	ORPHA:255241	Leigh syndrome with leukodystrophy			73
HP:0002795	HP:0002093	Respiratory insufficiency	1	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency			73
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency			73
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency			73
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	SYNE1 CL E G H	23345	17089	OMIM:618484	Arthrogryposis multiplex congenita, Myogenic type			1129
HP:0002795	HP:0002093	Respiratory insufficiency	1	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			1129
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			1129
HP:0002795	HP:0002093	Respiratory insufficiency	1	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			508
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			508
HP:0002795	HP:0002093	Respiratory insufficiency	1	SYNE2 CL E G H	23224	17084	OMIM:612999	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	.		508
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SYT1 CL E G H	6857	11509	OMIM:618218	Baker-Gordon syndrome			1
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome			1
HP:0002795	HP:0002093	Respiratory insufficiency	1	SYT2 CL E G H	127833	11510	OMIM:619461	MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B			4
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	SYT2 CL E G H	127833	11510	OMIM:619461	MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B			4
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	SYT2 CL E G H	127833	11510	OMIM:619461	MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B			4
HP:0002795	HP:0002093	Respiratory insufficiency	1	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes			4
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes			4
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes			4
HP:0002795	HP:0030829	Abnormal breath sound	1	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes			4
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	TACO1 CL E G H	51204	24316	ORPHA:255241	Leigh syndrome with leukodystrophy			23
HP:0002795	HP:0002093	Respiratory insufficiency	1	TAF15 CL E G H	8148	11547	ORPHA:803	Amyotrophic lateral sclerosis
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	TAF15 CL E G H	8148	11547	ORPHA:803	Amyotrophic lateral sclerosis
HP:0002795	HP:0002099	Asthma	1	TALDO1 CL E G H	6888	11559	OMIM:606003	Transaldolase deficiency	.		34
HP:0002795	HP:0002093	Respiratory insufficiency	1	TARDBP CL E G H	23435	11571	ORPHA:803	Amyotrophic lateral sclerosis			65
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	TARDBP CL E G H	23435	11571	ORPHA:803	Amyotrophic lateral sclerosis			65
HP:0002795	HP:0002093	Respiratory insufficiency	1	TARDBP CL E G H	23435	11571	OMIM:612069	Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia			65
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	TARDBP CL E G H	23435	11571	OMIM:612069	Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia			65
HP:0002795	HP:0025427	Abnormal bronchus physiology	1	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome			271
HP:0002795	HP:0002093	Respiratory insufficiency	1	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome			16
HP:0002795	HP:0002093	Respiratory insufficiency	1	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT			16
HP:0002795	HP:0002093	Respiratory insufficiency	1	TBCK CL E G H	93627	28261	OMIM:616900	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3	.		13
HP:0002795	HP:0002093	Respiratory insufficiency	1	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome	HP:0040282 - Frequent		13
HP:0002795	HP:0002099	Asthma	1	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome	HP:0040284 - Very rare		13
HP:0002795	HP:0002093	Respiratory insufficiency	1	TBK1 CL E G H	29110	11584	ORPHA:803	Amyotrophic lateral sclerosis			20
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	TBK1 CL E G H	29110	11584	ORPHA:803	Amyotrophic lateral sclerosis			20
HP:0002795	HP:0002093	Respiratory insufficiency	1	TBK1 CL E G H	29110	11584	ORPHA:1930	Herpes simplex virus encephalitis			20
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	TBL1XR1 CL E G H	79718	29529	ORPHA:520	Acute promyelocytic leukemia			22
HP:0002795	HP:0012735	Cough	1	TBL1XR1 CL E G H	79718	29529	ORPHA:520	Acute promyelocytic leukemia			22
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	TBR1 CL E G H	10716	11590	ORPHA:1617	2q24 microdeletion syndrome			1
HP:0002795	HP:0002099	Asthma	1	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		32
HP:0002795	HP:0006536	Airway obstruction	1	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome			32
HP:0002795	HP:0002099	Asthma	1	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome			32
HP:0002795	HP:0006536	Airway obstruction	1	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome			32
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	TBX20 CL E G H	57057	11598	ORPHA:99103	Atrial septal defect, ostium secundum type			20
HP:0002795	HP:0005957	Breathing dysregulation	1	TBX20 CL E G H	57057	11598	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional		20
HP:0002795	HP:0006536	Airway obstruction	1	TBX20 CL E G H	57057	11598	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040284 - Very rare		20
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	TBX20 CL E G H	57057	11598	ORPHA:99103	Atrial septal defect, ostium secundum type			20
HP:0002795	HP:0002099	Asthma	1	TBX21 CL E G H	30009	11599	OMIM:208550	Asthma, nasal polyps, and aspirin intolerance	.		1
HP:0002795	HP:0025427	Abnormal bronchus physiology	1	TBX21 CL E G H	30009	11599	OMIM:208550	Asthma, nasal polyps, and aspirin intolerance			1
HP:0002795	HP:0002099	Asthma	1	TBX21 CL E G H	30009	11599	OMIM:619630	IMMUNODEFICIENCY 88; IMD88			1
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome			55
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome			55
HP:0002795	HP:0012735	Cough	1	TCF3 CL E G H	6929	11633	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040281 - Very frequent		2
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome			241
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome	HP:0040282 - Frequent		241
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	TCIRG1 CL E G H	10312	11647	ORPHA:667	Autosomal recessive malignant osteopetrosis			82
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	TCIRG1 CL E G H	10312	11647	ORPHA:667	Autosomal recessive malignant osteopetrosis			82
HP:0002795	HP:0002093	Respiratory insufficiency	1	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional		140
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	TCTN1 CL E G H	79600	26113	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		45
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	TCTN2 CL E G H	79867	25774	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		76
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	TCTN3 CL E G H	26123	24519	ORPHA:2754	Orofaciodigital syndrome type 6			31
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0002795	HP:0006528	Chronic lung disease	1	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		1
HP:0002795	HP:0006528	Chronic lung disease	1	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0002795	HP:0002099	Asthma	1	TDGF1 CL E G H	6997	11701	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		1
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		1
HP:0002795	HP:0006528	Chronic lung disease	1	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		1
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0002795	HP:0006528	Chronic lung disease	1	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	TECPR2 CL E G H	9895	19957	ORPHA:320385	Hereditary sensory and autonomic neuropathy due to TECPR2 mutation			39
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	TECPR2 CL E G H	9895	19957	OMIM:615031	Spastic paraplegia 49, autosomal recessive			39
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	TERC CL E G H	7012	11727	ORPHA:2032	Idiopathic pulmonary fibrosis			48
HP:0002795	HP:0012735	Cough	1	TERC CL E G H	7012	11727	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent		48
HP:0002795	HP:0030829	Abnormal breath sound	1	TERC CL E G H	7012	11727	ORPHA:2032	Idiopathic pulmonary fibrosis			48
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	TERT CL E G H	7015	11730	ORPHA:2032	Idiopathic pulmonary fibrosis			238
HP:0002795	HP:0012735	Cough	1	TERT CL E G H	7015	11730	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent		238
HP:0002795	HP:0030829	Abnormal breath sound	1	TERT CL E G H	7015	11730	ORPHA:2032	Idiopathic pulmonary fibrosis			238
HP:0002795	HP:0006520	Progressive pulmonary function impairment	1	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040284 - Very rare		238
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040284 - Very rare		238
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	TERT CL E G H	7015	11730	OMIM:614742	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1			238
HP:0002795	HP:0012735	Cough	1	TERT CL E G H	7015	11730	OMIM:614742	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1			238
HP:0002795	HP:0030829	Abnormal breath sound	1	TERT CL E G H	7015	11730	OMIM:614742	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1			238
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	TERT CL E G H	7015	11730	OMIM:614742	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1			238
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	TERT CL E G H	7015	11730	OMIM:178500	Pulmonary fibrosis, idiopathic			238
HP:0002795	HP:0012735	Cough	1	TERT CL E G H	7015	11730	OMIM:178500	Pulmonary fibrosis, idiopathic			238
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	TERT CL E G H	7015	11730	OMIM:178500	Pulmonary fibrosis, idiopathic			238
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	TERT CL E G H	7015	11730	OMIM:178500	Pulmonary fibrosis, idiopathic			238
HP:0002795	HP:0002093	Respiratory insufficiency	1	TET2 CL E G H	54790	25941	ORPHA:729	Polycythemia vera	HP:0040282 - Frequent		3
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	TET2 CL E G H	54790	25941	ORPHA:729	Polycythemia vera			3
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	TET2 CL E G H	54790	25941	ORPHA:98826	Refractory anemia			3
HP:0002795	HP:0002093	Respiratory insufficiency	1	TFG CL E G H	10342	11758	ORPHA:90117	Hereditary motor and sensory neuropathy, Okinawa type			18
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	TFG CL E G H	10342	11758	ORPHA:90117	Hereditary motor and sensory neuropathy, Okinawa type			18
HP:0002795	HP:0012735	Cough	1	TFG CL E G H	10342	11758	ORPHA:90117	Hereditary motor and sensory neuropathy, Okinawa type	HP:0040281 - Very frequent		18
HP:0002795	HP:0002099	Asthma	1	TGFB1 CL E G H	7040	11766	ORPHA:586	Cystic fibrosis			13
HP:0002795	HP:0002099	Asthma	1	TGFB1 CL E G H	7040	11766	OMIM:219700	Cystic fibrosis	.		13
HP:0002795	HP:0006528	Chronic lung disease	1	TGFB1 CL E G H	7040	11766	OMIM:219700	Cystic fibrosis	.		13
HP:0002795	HP:0006536	Airway obstruction	1	TGFB1 CL E G H	7040	11766	ORPHA:586	Cystic fibrosis			13
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	TGFB1 CL E G H	7040	11766	ORPHA:586	Cystic fibrosis			13
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	TGFB1 CL E G H	7040	11766	OMIM:219700	Cystic fibrosis			13
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	TGFB2 CL E G H	7042	11768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			162
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	TGFB3 CL E G H	7043	11769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			85
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	TGFBR1 CL E G H	7046	11772	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			239
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	TGFBR2 CL E G H	7048	11773	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			253
HP:0002795	HP:0012735	Cough	1	TGFBR2 CL E G H	7048	11773	ORPHA:99977	Squamous cell carcinoma of the esophagus	HP:0040282 - Frequent		253
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0002795	HP:0006528	Chronic lung disease	1	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		32
HP:0002795	HP:0006528	Chronic lung disease	1	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0002795	HP:0002099	Asthma	1	TGIF1 CL E G H	7050	11776	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		32
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		32
HP:0002795	HP:0006528	Chronic lung disease	1	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		32
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0002795	HP:0006528	Chronic lung disease	1	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	THBD CL E G H	7056	11784	OMIM:614486	Thrombophilia due to thrombomodulin defect			60
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	THPO CL E G H	7066	11795	ORPHA:71493	Familial thrombocytosis			23
HP:0002795	HP:0006536	Airway obstruction	1	THSD4 CL E G H	79875	25835	OMIM:619825	AORTIC ANEURYSM, FAMILIAL THORACIC 12; AAT12			2
HP:0002795	HP:0002093	Respiratory insufficiency	1	TICAM1 CL E G H	148022	18348	ORPHA:1930	Herpes simplex virus encephalitis			6
HP:0002795	HP:0002093	Respiratory insufficiency	1	TIMMDC1 CL E G H	51300	1321	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		1
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3			60
HP:0002795	HP:0002093	Respiratory insufficiency	1	TK2 CL E G H	7084	11831	OMIM:609560	Mitochondrial DNA depletion syndrome 2 (myopathic type)			103
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	TK2 CL E G H	7084	11831	OMIM:609560	Mitochondrial DNA depletion syndrome 2 (myopathic type)			103
HP:0002795	HP:0002093	Respiratory insufficiency	1	TK2 CL E G H	7084	11831	ORPHA:254875	Mitochondrial DNA depletion syndrome, myopathic form	HP:0040281 - Very frequent		103
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	TK2 CL E G H	7084	11831	ORPHA:254875	Mitochondrial DNA depletion syndrome, myopathic form			103
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	TK2 CL E G H	7084	11831	ORPHA:254875	Mitochondrial DNA depletion syndrome, myopathic form			103
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57			1
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	TLL1 CL E G H	7092	11843	ORPHA:99106	Atrial septal defect, ostium primum type			6
HP:0002795	HP:0006536	Airway obstruction	1	TLL1 CL E G H	7092	11843	ORPHA:99106	Atrial septal defect, ostium primum type	HP:0040283 - Occasional		6
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	TLL1 CL E G H	7092	11843	ORPHA:99106	Atrial septal defect, ostium primum type			6
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	TLL1 CL E G H	7092	11843	ORPHA:99103	Atrial septal defect, ostium secundum type			6
HP:0002795	HP:0005957	Breathing dysregulation	1	TLL1 CL E G H	7092	11843	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional		6
HP:0002795	HP:0006536	Airway obstruction	1	TLL1 CL E G H	7092	11843	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040284 - Very rare		6
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	TLL1 CL E G H	7092	11843	ORPHA:99103	Atrial septal defect, ostium secundum type			6
HP:0002795	HP:0002093	Respiratory insufficiency	1	TLR3 CL E G H	7098	11849	ORPHA:1930	Herpes simplex virus encephalitis			3
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease			3
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	TMEM107 CL E G H	84314	28128	OMIM:617563	Orofaciodigital syndrome XVI			4
HP:0002795	HP:0002093	Respiratory insufficiency	1	TMEM126B CL E G H	55863	30883	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		4
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	TMEM138 CL E G H	51524	26944	ORPHA:2318	Joubert syndrome with oculorenal defect			39
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2			45
HP:0002795	HP:0005957	Breathing dysregulation	1	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2			45
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	TMEM216 CL E G H	51259	25018	ORPHA:2318	Joubert syndrome with oculorenal defect			45
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	TMEM216 CL E G H	51259	25018	ORPHA:2754	Orofaciodigital syndrome type 6			45
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	TMEM218 CL E G H	219854	27344	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	TMEM218 CL E G H	219854	27344	OMIM:619562	JOUBERT SYNDROME 39; JBTS39
HP:0002795	HP:0002093	Respiratory insufficiency	1	TMEM231 CL E G H	79583	37234	OMIM:614970	Joubert syndrome 20	HP:0040280 - Obligate		33
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	TMEM231 CL E G H	79583	37234	ORPHA:2318	Joubert syndrome with oculorenal defect			33
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	TMEM237 CL E G H	65062	14432	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		82
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	TMEM237 CL E G H	65062	14432	ORPHA:2318	Joubert syndrome with oculorenal defect			82
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	TMEM237 CL E G H	65062	14432	ORPHA:220497	Joubert syndrome with renal defect	HP:0040281 - Very frequent		82
HP:0002795	HP:0002093	Respiratory insufficiency	1	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			171
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			171
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	TMEM67 CL E G H	91147	28396	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		166
HP:0002795	HP:0005957	Breathing dysregulation	1	TMEM67 CL E G H	91147	28396	OMIM:610688	Joubert syndrome 6	.		166
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040281 - Very frequent		166
HP:0002795	HP:0002093	Respiratory insufficiency	1	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2	.	HP:0003623 - Neonatal onset	63
HP:0002795	HP:0002093	Respiratory insufficiency	1	TMEM70 CL E G H	54968	26050	ORPHA:1194	TMEM70-related mitochondrial encephalo-cardio-myopathy			63
HP:0002795	HP:0032933	Airway hyperresponsiveness	1	TNF CL E G H	7124	11892	OMIM:600807	Asthma, susceptibility to			7
HP:0002795	HP:0002099	Asthma	1	TNF CL E G H	7124	11892	OMIM:600807	Asthma, susceptibility to	.		7
HP:0002795	HP:0025427	Abnormal bronchus physiology	1	TNF CL E G H	7124	11892	OMIM:600807	Asthma, susceptibility to			7
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	TNFRSF13B CL E G H	23495	18153	ORPHA:1572	Common variable immunodeficiency			32
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	TNFRSF13C CL E G H	115650	17755	ORPHA:1572	Common variable immunodeficiency			12
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	TNFSF11 CL E G H	8600	11926	ORPHA:667	Autosomal recessive malignant osteopetrosis			44
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	TNFSF11 CL E G H	8600	11926	ORPHA:667	Autosomal recessive malignant osteopetrosis			44
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	TNFSF12 CL E G H	8742	11927	ORPHA:1572	Common variable immunodeficiency			1
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	TNNC1 CL E G H	7134	11943	OMIM:613243	Cardiomyopathy, familial hypertrophic, 13			73
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	TNNI3 CL E G H	7137	11947	ORPHA:75249	Familial isolated restrictive cardiomyopathy			180
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	TNNI3 CL E G H	7137	11947	ORPHA:75249	Familial isolated restrictive cardiomyopathy			180
HP:0002795	HP:0002093	Respiratory insufficiency	1	TNNT1 CL E G H	7138	11948	ORPHA:98902	Amish nemaline myopathy			37
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	TNNT1 CL E G H	7138	11948	ORPHA:98902	Amish nemaline myopathy			37
HP:0002795	HP:0002093	Respiratory insufficiency	1	TNNT1 CL E G H	7138	11948	OMIM:605355	NEMALINE MYOPATHY 5; NEM5			37
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	TNNT2 CL E G H	7139	11949	OMIM:115195	Cardiomyopathy, familial hypertrophic, 2			248
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	TNNT2 CL E G H	7139	11949	ORPHA:75249	Familial isolated restrictive cardiomyopathy			248
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	TNNT2 CL E G H	7139	11949	ORPHA:75249	Familial isolated restrictive cardiomyopathy			248
HP:0002795	HP:0002093	Respiratory insufficiency	1	TNPO3 CL E G H	23534	17103	OMIM:608423	Muscular dystrophy, limb-girdle, autosomal dominant 2			71
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	TNPO3 CL E G H	23534	17103	OMIM:608423	Muscular dystrophy, limb-girdle, autosomal dominant 2			71
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7			6
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	TOGARAM1 CL E G H	23116	19959	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	TOPORS CL E G H	10210	21653	ORPHA:2754	Orofaciodigital syndrome type 6			61
HP:0002795	HP:0002093	Respiratory insufficiency	1	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5			47
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5			47
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	TOR1AIP1 CL E G H	26092	29456	OMIM:617072	Muscular dystrophy, limb-girdle, type 2Y			10
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	TP63 CL E G H	8626	15979	ORPHA:141291	Cleft lip and alveolus	HP:0040282 - Frequent		140
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	TP73 CL E G H	7161	12003	OMIM:619466	CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY; CILD47
HP:0002795	HP:0031602	Abnormal mucociliary clearance	1	TP73 CL E G H	7161	12003	OMIM:619466	CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY; CILD47
HP:0002795	HP:0002093	Respiratory insufficiency	1	TPI1 CL E G H	7167	12009	OMIM:615512	Triosephosphate isomerase deficiency			28
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	TPI1 CL E G H	7167	12009	OMIM:615512	Triosephosphate isomerase deficiency			28
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	TPI1 CL E G H	7167	12009	OMIM:615512	Triosephosphate isomerase deficiency			28
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	TPM2 CL E G H	7169	12011	ORPHA:171881	Cap myopathy			54
HP:0002795	HP:0002093	Respiratory insufficiency	1	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy			54
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy			54
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy			54
HP:0002795	HP:0002093	Respiratory insufficiency	1	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy			54
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		54
HP:0002795	HP:0012415	Abnormal blood gas level	1	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy			54
HP:0002795	HP:0002093	Respiratory insufficiency	1	TPM2 CL E G H	7169	12011	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.		54
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	TPM2 CL E G H	7169	12011	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			54
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	TPM2 CL E G H	7169	12011	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			54
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	TPM2 CL E G H	7169	12011	OMIM:609285	Nemaline myopathy 4			54
HP:0002795	HP:0002093	Respiratory insufficiency	1	TPM2 CL E G H	7169	12011	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent		54
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	TPM2 CL E G H	7169	12011	ORPHA:171436	Typical nemaline myopathy			54
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	TPM3 CL E G H	7170	12012	ORPHA:171881	Cap myopathy			108
HP:0002795	HP:0002093	Respiratory insufficiency	1	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy			108
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy			108
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy			108
HP:0002795	HP:0002093	Respiratory insufficiency	1	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy			108
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		108
HP:0002795	HP:0012415	Abnormal blood gas level	1	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy			108
HP:0002795	HP:0002093	Respiratory insufficiency	1	TPM3 CL E G H	7170	12012	ORPHA:171433	Intermediate nemaline myopathy			108
HP:0002795	HP:0002093	Respiratory insufficiency	1	TPM3 CL E G H	7170	12012	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.		108
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	TPM3 CL E G H	7170	12012	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			108
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	TPM3 CL E G H	7170	12012	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			108
HP:0002795	HP:0002093	Respiratory insufficiency	1	TPM3 CL E G H	7170	12012	OMIM:609284	Nemaline myopathy 1	.		108
HP:0002795	HP:0002093	Respiratory insufficiency	1	TRAF3 CL E G H	7187	12033	ORPHA:1930	Herpes simplex virus encephalitis			2
HP:0002795	HP:0012735	Cough	1	TRAF3IP2 CL E G H	10758	1343	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040283 - Occasional		4
HP:0002795	HP:0002093	Respiratory insufficiency	1	TRAF7 CL E G H	84231	20456	OMIM:618164	Cardiac, facial, and digital anomalies with developmental delay
HP:0002795	HP:0006520	Progressive pulmonary function impairment	1	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040284 - Very rare
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040284 - Very rare
HP:0002795	HP:0002099	Asthma	1	TRAIP CL E G H	10293	30764	OMIM:616777	Seckel syndrome 9	HP:0040283 - Occasional		2
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	TRAK1 CL E G H	22906	29947	OMIM:618201	Epileptic encephalopathy, early infantile, 68
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	TRAPPC11 CL E G H	60684	25751	ORPHA:369847	Intellectual disability-hyperkinetic movement-truncal ataxia syndrome			27
HP:0002795	HP:0002093	Respiratory insufficiency	1	TRAPPC11 CL E G H	60684	25751	ORPHA:869	Triple A syndrome	HP:0040283 - Occasional		27
HP:0002795	HP:0002093	Respiratory insufficiency	1	TREM2 CL E G H	54209	17761	ORPHA:803	Amyotrophic lateral sclerosis			31
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	TREM2 CL E G H	54209	17761	ORPHA:803	Amyotrophic lateral sclerosis			31
HP:0002795	HP:0002093	Respiratory insufficiency	1	TRIM2 CL E G H	23321	15974	OMIM:615490	Charcot-Marie-Tooth disease, axonal, type 2R	.		3
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	TRIP11 CL E G H	9321	12305	ORPHA:166272	Odontochondrodysplasia			133
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	TRIP11 CL E G H	9321	12305	OMIM:184260	Osteochondrodysplasia			133
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome			2
HP:0002795	HP:0002093	Respiratory insufficiency	1	TRIP4 CL E G H	9325	12310	ORPHA:486815	Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome			4
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	TRIP4 CL E G H	9325	12310	ORPHA:486815	Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome			4
HP:0002795	HP:0002093	Respiratory insufficiency	1	TRIP4 CL E G H	9325	12310	OMIM:617066	Muscular dystrophy, congenital, Davignon-Chauveau type			4
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	TRIP4 CL E G H	9325	12310	OMIM:617066	Muscular dystrophy, congenital, Davignon-Chauveau type			4
HP:0002795	HP:0002093	Respiratory insufficiency	1	TRIP4 CL E G H	9325	12310	OMIM:616866	Spinal muscular atrophy with congenital bone fractures 1			4
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	TRMT5 CL E G H	57570	23141	OMIM:616539	Combined oxidative phosphorylation deficiency 26			4
HP:0002795	HP:0002093	Respiratory insufficiency	1	TRMU CL E G H	55687	25481	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency			101
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	TRMU CL E G H	55687	25481	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency			101
HP:0002795	HP:0002093	Respiratory insufficiency	1	TRNE CL E G H	4556	7479	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	TRNE CL E G H	4556	7479	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	TRNE CL E G H	4556	7479	ORPHA:2596	Myopathy and diabetes mellitus
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	TRNF CL E G H	4558	7481	ORPHA:550	MELAS
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	TRNH CL E G H	4564	7487	ORPHA:550	MELAS
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	TRNK CL E G H	4566	7489	ORPHA:1349	Mitochondrial DNA-related cardiomyopathy and hearing loss
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002795	HP:0002093	Respiratory insufficiency	1	TRNL1 CL E G H	4567	7490	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	TRNL1 CL E G H	4567	7490	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	TRNL1 CL E G H	4567	7490	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0002795	HP:0002093	Respiratory insufficiency	1	TRNL2 CL E G H	4568	7491	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	TRNL2 CL E G H	4568	7491	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	TRNL2 CL E G H	4568	7491	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0002795	HP:0002093	Respiratory insufficiency	1	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency
HP:0002795	HP:0002093	Respiratory insufficiency	1	TRNN CL E G H	4570	7493	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	TRNN CL E G H	4570	7493	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	TRNN CL E G H	4570	7493	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS
HP:0002795	HP:0002093	Respiratory insufficiency	1	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency
HP:0002795	HP:0002093	Respiratory insufficiency	1	TRNS1 CL E G H	4574	7497	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	TRNS1 CL E G H	4574	7497	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	TRNS1 CL E G H	4574	7497	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS
HP:0002795	HP:0002093	Respiratory insufficiency	1	TRNT CL E G H	4576	7499	ORPHA:254857	Lethal infantile mitochondrial myopathy
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	TRNW CL E G H	4578	7501	ORPHA:550	MELAS
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	TRPM4 CL E G H	54795	17993	ORPHA:871	Familial progressive cardiac conduction defect			124
HP:0002795	HP:0002093	Respiratory insufficiency	1	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC			214
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC			214
HP:0002795	HP:0030829	Abnormal breath sound	1	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC			214
HP:0002795	HP:0002093	Respiratory insufficiency	1	TRPV4 CL E G H	59341	18083	OMIM:156530	Metatropic dysplasia	.		214
HP:0002795	HP:0002093	Respiratory insufficiency	1	TRPV4 CL E G H	59341	18083	OMIM:181405	Scapuloperoneal spinal muscular atrophy	.		214
HP:0002795	HP:0030829	Abnormal breath sound	1	TRPV4 CL E G H	59341	18083	OMIM:181405	Scapuloperoneal spinal muscular atrophy			214
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	TRPV6 CL E G H	55503	14006	OMIM:618188	Hyperparathyroidism, transient neonatal			4
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism			2
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis			1090
HP:0002795	HP:0012735	Cough	1	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis	HP:0040281 - Very frequent		1090
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis			1090
HP:0002795	HP:0002093	Respiratory insufficiency	1	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex			1090
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex			1090
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis			2738
HP:0002795	HP:0012735	Cough	1	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis	HP:0040281 - Very frequent		2738
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis			2738
HP:0002795	HP:0002093	Respiratory insufficiency	1	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex			2738
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex			2738
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	TSEN15 CL E G H	116461	16791	ORPHA:2524	Pontocerebellar hypoplasia type 2			3
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	TSEN2 CL E G H	80746	28422	ORPHA:2524	Pontocerebellar hypoplasia type 2			84
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	TSEN34 CL E G H	79042	15506	ORPHA:2524	Pontocerebellar hypoplasia type 2			57
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	TSEN54 CL E G H	283989	27561	ORPHA:2524	Pontocerebellar hypoplasia type 2			102
HP:0002795	HP:0002093	Respiratory insufficiency	1	TSEN54 CL E G H	283989	27561	ORPHA:166063	Pontocerebellar hypoplasia type 4			102
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	TSEN54 CL E G H	283989	27561	ORPHA:166063	Pontocerebellar hypoplasia type 4			102
HP:0002795	HP:0002093	Respiratory insufficiency	1	TSEN54 CL E G H	283989	27561	OMIM:225753	Pontocerebellar hypoplasia, type 4			102
HP:0002795	HP:0002093	Respiratory insufficiency	1	TSFM CL E G H	10102	12367	OMIM:610505	Combined oxidative phosphorylation deficiency 3	.		43
HP:0002795	HP:0002093	Respiratory insufficiency	1	TSPYL1 CL E G H	7259	12382	OMIM:608800	Sudden infant death with dysgenesis of the testes syndrome			1
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	TSPYL1 CL E G H	7259	12382	OMIM:608800	Sudden infant death with dysgenesis of the testes syndrome	.		1
HP:0002795	HP:0025427	Abnormal bronchus physiology	1	TSPYL1 CL E G H	7259	12382	OMIM:608800	Sudden infant death with dysgenesis of the testes syndrome			1
HP:0002795	HP:0030829	Abnormal breath sound	1	TSPYL1 CL E G H	7259	12382	OMIM:608800	Sudden infant death with dysgenesis of the testes syndrome			1
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	TSPYL1 CL E G H	7259	12382	ORPHA:168593	Sudden infant death-dysgenesis of the testes syndrome	HP:0040281 - Very frequent		1
HP:0002795	HP:0012261	Abnormal respiratory motile cilium physiology	1	TTC12 CL E G H	54970	23700	OMIM:618801	CILIARY DYSKINESIA, PRIMARY, 45; CILD45
HP:0002795	HP:0002093	Respiratory insufficiency	1	TTC12 CL E G H	54970	23700	ORPHA:244	Primary ciliary dyskinesia
HP:0002795	HP:0006536	Airway obstruction	1	TTC12 CL E G H	54970	23700	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0002795	HP:0012735	Cough	1	TTC12 CL E G H	54970	23700	ORPHA:244	Primary ciliary dyskinesia
HP:0002795	HP:0030829	Abnormal breath sound	1	TTC12 CL E G H	54970	23700	ORPHA:244	Primary ciliary dyskinesia
HP:0002795	HP:0002093	Respiratory insufficiency	1	TTC21B CL E G H	79809	25660	ORPHA:474	Jeune syndrome	HP:0040282 - Frequent		132
HP:0002795	HP:0002099	Asthma	1	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0002795	HP:0002093	Respiratory insufficiency	1	TTN CL E G H	7273	12403	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040282 - Frequent		7128
HP:0002795	HP:0002093	Respiratory insufficiency	1	TTN CL E G H	7273	12403	ORPHA:324604	Classic multiminicore myopathy			7128
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	TTN CL E G H	7273	12403	ORPHA:324604	Classic multiminicore myopathy			7128
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	TTN CL E G H	7273	12403	ORPHA:324604	Classic multiminicore myopathy			7128
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	TTN CL E G H	7273	12403	ORPHA:324604	Classic multiminicore myopathy			7128
HP:0002795	HP:0002093	Respiratory insufficiency	1	TTN CL E G H	7273	12403	ORPHA:178464	Hereditary myopathy with early respiratory failure			7128
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	TTN CL E G H	7273	12403	ORPHA:178464	Hereditary myopathy with early respiratory failure			7128
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	TTN CL E G H	7273	12403	ORPHA:178464	Hereditary myopathy with early respiratory failure			7128
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	TTN CL E G H	7273	12403	ORPHA:178464	Hereditary myopathy with early respiratory failure			7128
HP:0002795	HP:0002093	Respiratory insufficiency	1	TTN CL E G H	7273	12403	OMIM:603689	Myopathy, myofibrillar, 9, with early respiratory failure			7128
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	TTN CL E G H	7273	12403	OMIM:603689	Myopathy, myofibrillar, 9, with early respiratory failure			7128
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	TTN CL E G H	7273	12403	OMIM:603689	Myopathy, myofibrillar, 9, with early respiratory failure			7128
HP:0002795	HP:0002093	Respiratory insufficiency	1	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent		106
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	TUBB4A CL E G H	10382	20774	ORPHA:98805	Primary dystonia, DYT4 type			66
HP:0002795	HP:0002093	Respiratory insufficiency	1	TUFM CL E G H	7284	12420	OMIM:610678	Combined oxidative phosphorylation deficiency 4			55
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome			18
HP:0002795	HP:0002093	Respiratory insufficiency	1	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		113
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			113
HP:0002795	HP:0002093	Respiratory insufficiency	1	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			113
HP:0002795	HP:0002093	Respiratory insufficiency	1	TXNDC15 CL E G H	79770	20652	OMIM:619879				2
HP:0002795	HP:0002093	Respiratory insufficiency	1	UBA1 CL E G H	7317	12469	ORPHA:1145	Infantile-onset X-linked spinal muscular atrophy	HP:0040282 - Frequent		35
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	UBA1 CL E G H	7317	12469	ORPHA:1145	Infantile-onset X-linked spinal muscular atrophy			35
HP:0002795	HP:0002093	Respiratory insufficiency	1	UBA1 CL E G H	7317	12469	OMIM:301830	Spinal muscular atrophy, X-linked 2	.		35
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	UBA1 CL E G H	7317	12469	OMIM:301830	Spinal muscular atrophy, X-linked 2			35
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type			7
HP:0002795	HP:0002093	Respiratory insufficiency	1	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome			13
HP:0002795	HP:0002093	Respiratory insufficiency	1	UBE3B CL E G H	89910	13478	ORPHA:2707	Oculocerebrofacial syndrome, Kaufman type			13
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	UBE3B CL E G H	89910	13478	ORPHA:2707	Oculocerebrofacial syndrome, Kaufman type			13
HP:0002795	HP:0002093	Respiratory insufficiency	1	UBQLN2 CL E G H	29978	12509	ORPHA:803	Amyotrophic lateral sclerosis			20
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	UBQLN2 CL E G H	29978	12509	ORPHA:803	Amyotrophic lateral sclerosis			20
HP:0002795	HP:0002099	Asthma	1	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0002795	HP:0006536	Airway obstruction	1	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0002795	HP:0002093	Respiratory insufficiency	1	UFM1 CL E G H	51569	20597	OMIM:617899	Leukodystrophy, hypomyelinating, 14	.
HP:0002795	HP:0002093	Respiratory insufficiency	1	UNC13A CL E G H	23025	23150	ORPHA:803	Amyotrophic lateral sclerosis			1
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	UNC13A CL E G H	23025	23150	ORPHA:803	Amyotrophic lateral sclerosis			1
HP:0002795	HP:0002099	Asthma	1	UNC45A CL E G H	55898	30594	OMIM:619377	OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	UNC45B CL E G H	146862	14304	OMIM:619178	MYOFIBRILLAR MYOPATHY 11; MFM11			1
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome			23
HP:0002795	HP:0002093	Respiratory insufficiency	1	UNC93B1 CL E G H	81622	13481	ORPHA:1930	Herpes simplex virus encephalitis			5
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	UQCRC2 CL E G H	7385	12586	OMIM:615160	Mitochondrial complex III deficiency, nuclear type 5			17
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	UQCRFS1 CL E G H	7386	12587	OMIM:618775	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10
HP:0002795	HP:0002093	Respiratory insufficiency	1	USP18 CL E G H	11274	12616	OMIM:617397	Pseudo-Torch syndrome 2	.		2
HP:0002795	HP:0002099	Asthma	1	USP7 CL E G H	7874	12630	ORPHA:500055	16p13.2 microdeletion syndrome	HP:0040282 - Frequent		2
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	USP7 CL E G H	7874	12630	ORPHA:500055	16p13.2 microdeletion syndrome			2
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	USP7 CL E G H	7874	12630	OMIM:616863	Chromosome 16p13.2 deletion syndrome			2
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted			27
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability			27
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome			6
HP:0002795	HP:0002093	Respiratory insufficiency	1	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0002795	HP:0030829	Abnormal breath sound	1	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0002795	HP:0002093	Respiratory insufficiency	1	VAPB CL E G H	9217	12649	ORPHA:803	Amyotrophic lateral sclerosis			116
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	VAPB CL E G H	9217	12649	ORPHA:803	Amyotrophic lateral sclerosis			116
HP:0002795	HP:0002093	Respiratory insufficiency	1	VARS2 CL E G H	57176	21642	OMIM:615917	Combined oxidative phosphorylation deficiency 20			56
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	VCL CL E G H	7414	12665	OMIM:613255	Cardiomyopathy, familial hypertrophic, 15			248
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	VCL CL E G H	7414	12665	OMIM:613255	Cardiomyopathy, familial hypertrophic, 15			248
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	VCP CL E G H	7415	12666	ORPHA:329478	Adult-onset distal myopathy due to VCP mutation			63
HP:0002795	HP:0002093	Respiratory insufficiency	1	VCP CL E G H	7415	12666	ORPHA:803	Amyotrophic lateral sclerosis			63
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	VCP CL E G H	7415	12666	ORPHA:803	Amyotrophic lateral sclerosis			63
HP:0002795	HP:0002093	Respiratory insufficiency	1	VCP CL E G H	7415	12666	OMIM:613954	Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia			63
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	VCP CL E G H	7415	12666	ORPHA:435387	Autosomal dominant Charcot-Marie-Tooth disease type 2Y			63
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	VCP CL E G H	7415	12666	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040283 - Occasional		63
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	VHL CL E G H	7428	12687	OMIM:263400	Erythrocytosis, familial, 2			490
HP:0002795	HP:0002093	Respiratory insufficiency	1	VMA21 CL E G H	203547	22082	OMIM:310440	Myopathy, X-linked, with excessive autophagy	HP:0040283 - Occasional		10
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders			1
HP:0002795	HP:0006536	Airway obstruction	1	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders	HP:0040282 - Frequent		1
HP:0002795	HP:0030829	Abnormal breath sound	1	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders			1
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders			1
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome			1
HP:0002795	HP:0002099	Asthma	1	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0002795	HP:0002093	Respiratory insufficiency	1	VRK1 CL E G H	7443	12718	ORPHA:2254	Pontocerebellar hypoplasia type 1			32
HP:0002795	HP:0030829	Abnormal breath sound	1	VRK1 CL E G H	7443	12718	ORPHA:2254	Pontocerebellar hypoplasia type 1			32
HP:0002795	HP:0002093	Respiratory insufficiency	1	VRK1 CL E G H	7443	12718	OMIM:607596	Pontocerebellar hypoplasia type 1A	.		32
HP:0002795	HP:0002099	Asthma	1	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation	HP:0040283 - Occasional		20
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation	HP:0040283 - Occasional		20
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome			65
HP:0002795	HP:0006536	Airway obstruction	1	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome			65
HP:0002795	HP:0002093	Respiratory insufficiency	1	WDR19 CL E G H	57728	18340	ORPHA:474	Jeune syndrome	HP:0040282 - Frequent		95
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	WDR19 CL E G H	57728	18340	OMIM:614376	Short-Rib thoracic dysplasia 5 with or without polydactyly			95
HP:0002795	HP:0002093	Respiratory insufficiency	1	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040281 - Very frequent		136
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	WDR45B CL E G H	56270	25072	OMIM:617977	Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures			1
HP:0002795	HP:0002093	Respiratory insufficiency	1	WFS1 CL E G H	7466	12762	ORPHA:3463	Wolfram syndrome	HP:0040283 - Occasional		389
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	WFS1 CL E G H	7466	12762	ORPHA:3463	Wolfram syndrome			389
HP:0002795	HP:0002093	Respiratory insufficiency	1	WFS1 CL E G H	7466	12762	ORPHA:411590	Wolfram-like syndrome	HP:0040283 - Occasional		389
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome			6
HP:0002795	HP:0006536	Airway obstruction	1	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome			6
HP:0002795	HP:0012735	Cough	1	WWOX CL E G H	51741	12799	ORPHA:99977	Squamous cell carcinoma of the esophagus	HP:0040282 - Frequent		149
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	XPNPEP2 CL E G H	7512	12823	ORPHA:100057	Renin-angiotensin-aldosterone system-blocker-induced angioedema			4
HP:0002795	HP:0006536	Airway obstruction	1	XPNPEP2 CL E G H	7512	12823	ORPHA:100057	Renin-angiotensin-aldosterone system-blocker-induced angioedema			4
HP:0002795	HP:0002093	Respiratory insufficiency	1	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2			14
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	XYLT1 CL E G H	64131	15516	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE			14
HP:0002795	HP:0030878	Abnormality on pulmonary function testing	1	XYLT2 CL E G H	64132	15517	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE			5
HP:0002795	HP:0002093	Respiratory insufficiency	1	YARS2 CL E G H	51067	24249	OMIM:613561	Myopathy, lactic acidosis, and sideroblastic anemia 2			45
HP:0002795	HP:0004347	Weakness of muscles of respiration	1	YARS2 CL E G H	51067	24249	OMIM:613561	Myopathy, lactic acidosis, and sideroblastic anemia 2			45
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	ZBTB16 CL E G H	7704	12930	ORPHA:520	Acute promyelocytic leukemia			1
HP:0002795	HP:0012735	Cough	1	ZBTB16 CL E G H	7704	12930	ORPHA:520	Acute promyelocytic leukemia			1
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	ZBTB7A CL E G H	51341	18078	OMIM:619769	MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH
HP:0002795	HP:0002093	Respiratory insufficiency	1	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome			19
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome			19
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	ZFPM2 CL E G H	23414	16700	ORPHA:2140	Congenital diaphragmatic hernia			31
HP:0002795	HP:0012415	Abnormal blood gas level	1	ZFPM2 CL E G H	23414	16700	ORPHA:2140	Congenital diaphragmatic hernia			31
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		34
HP:0002795	HP:0006528	Chronic lung disease	1	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		34
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		34
HP:0002795	HP:0006528	Chronic lung disease	1	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		34
HP:0002795	HP:0002099	Asthma	1	ZIC2 CL E G H	7546	12873	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		34
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		34
HP:0002795	HP:0006528	Chronic lung disease	1	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		34
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		34
HP:0002795	HP:0006528	Chronic lung disease	1	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		34
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked			39
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome			83
HP:0002795	HP:0006536	Airway obstruction	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome			83
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome			83
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0002795	HP:0033036	Decreased nasal nitric oxide	1	ZMYND10 CL E G H	51364	19412	OMIM:615444	Ciliary dyskinesia, primary, 22			20
HP:0002795	HP:0002093	Respiratory insufficiency	1	ZMYND10 CL E G H	51364	19412	OMIM:615444	Ciliary dyskinesia, primary, 22			20
HP:0002795	HP:0012261	Abnormal respiratory motile cilium physiology	1	ZMYND10 CL E G H	51364	19412	OMIM:615444	Ciliary dyskinesia, primary, 22			20
HP:0002795	HP:0002093	Respiratory insufficiency	1	ZMYND10 CL E G H	51364	19412	ORPHA:244	Primary ciliary dyskinesia			20
HP:0002795	HP:0006536	Airway obstruction	1	ZMYND10 CL E G H	51364	19412	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		20
HP:0002795	HP:0012735	Cough	1	ZMYND10 CL E G H	51364	19412	ORPHA:244	Primary ciliary dyskinesia			20
HP:0002795	HP:0030829	Abnormal breath sound	1	ZMYND10 CL E G H	51364	19412	ORPHA:244	Primary ciliary dyskinesia			20
HP:0002795	HP:0002093	Respiratory insufficiency	1	ZNF148 CL E G H	7707	12933	OMIM:617260	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies	.	HP:0003623 - Neonatal onset	4
HP:0002795	HP:0002793	Abnormal pattern of respiration	1	ZNF423 CL E G H	23090	16762	ORPHA:2318	Joubert syndrome with oculorenal defect			49
HP:0002795	HP:0002099	Asthma	1	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0002795	HP:0006528	Chronic lung disease	1	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0002795	HP:0030875	Abnormality of pulmonary circulation	1	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0002795	HP:0006536	Airway obstruction	1	ZSWIM6 CL E G H	57688	29316	OMIM:603671	Acromelic frontonasal dysostosis			5
HP:0002795	HP:0006536	Airway obstruction	1	ZSWIM6 CL E G H	57688	29316	ORPHA:1827	Acromelic frontonasal dysplasia			5
HP:0002795	HP:0012652	Exercise-induced asthma	2	CL E G H
HP:0002795	HP:0030831	Rhonchi	2	CL E G H
HP:0002795	HP:0030876	Increased pulmonary capillary wedge pressure	2	CL E G H
HP:0002795	HP:0030893	Abnormal response to short acting pulmonary vasodilator	2	CL E G H
HP:0002795	HP:0031225	Intrapulmonary shunt	2	CL E G H
HP:0002795	HP:0031247	Whooping cough	2	CL E G H
HP:0002795	HP:0031503	Night gasping	2	CL E G H
HP:0002795	HP:0031994	Bronchial breath sound	2	CL E G H
HP:0002795	HP:0032000	Pleural rub	2	CL E G H
HP:0002795	HP:0032355	Decreased peak expiratory flow	2	CL E G H
HP:0002795	HP:0033121	Barking cough	2	CL E G H
HP:0002795	HP:0033169	Reduced total lung capacity	2	CL E G H
HP:0002795	HP:0033350	Elevated forced expiratory volume in one second	2	CL E G H
HP:0002795	HP:0033372	Abnormal KCO	2	CL E G H
HP:0002795	HP:0033540	Reversible airflow obstruction	2	CL E G H
HP:0002795	HP:0033541	Irreversible airflow obstruction	2	CL E G H
HP:0002795	HP:0033632	Abnormal alveolar volume	2	CL E G H
HP:0002795	HP:0033749	Abnormal functional residual capacity	2	CL E G H
HP:0002795	HP:0033752	Abnormal residual volume	2	CL E G H
HP:0002795	HP:0033760	Decreased maximal oxygen uptake	2	CL E G H
HP:0002795	HP:0033772	Abnormal RV/TLC ratio	2	CL E G H
HP:0002795	HP:0034315	Chronic cough	2	CL E G H
HP:0002795	HP:0012196	Cheyne-Stokes respiration	2	AARS1 CL E G H	16	20	OMIM:619661	LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS 2; HDLS2
HP:0002795	HP:0002094	Dyspnea	2	ABCA3 CL E G H	21	33	ORPHA:2032	Idiopathic pulmonary fibrosis			147
HP:0002795	HP:0030830	Crackles	2	ABCA3 CL E G H	21	33	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent		147
HP:0002795	HP:0002094	Dyspnea	2	ABCA3 CL E G H	21	33	ORPHA:70587	Infant acute respiratory distress syndrome			147
HP:0002795	HP:0002789	Tachypnea	2	ABCA3 CL E G H	21	33	ORPHA:70587	Infant acute respiratory distress syndrome	HP:0040282 - Frequent		147
HP:0002795	HP:0002878	Respiratory failure	2	ABCA3 CL E G H	21	33	ORPHA:70587	Infant acute respiratory distress syndrome	HP:0040282 - Frequent		147
HP:0002795	HP:0500165	Abnormal blood oxygen level	2	ABCA3 CL E G H	21	33	ORPHA:70587	Infant acute respiratory distress syndrome			147
HP:0002795	HP:0002094	Dyspnea	2	ABCA3 CL E G H	21	33	OMIM:610921	Surfactant metabolism dysfunction, pulmonary, 3			147
HP:0002795	HP:0002104	Apnea	2	ABCA3 CL E G H	21	33	OMIM:610921	Surfactant metabolism dysfunction, pulmonary, 3	.		147
HP:0002795	HP:0002643	Neonatal respiratory distress	2	ABCA3 CL E G H	21	33	OMIM:610921	Surfactant metabolism dysfunction, pulmonary, 3			147
HP:0002795	HP:0002789	Tachypnea	2	ABCA3 CL E G H	21	33	OMIM:610921	Surfactant metabolism dysfunction, pulmonary, 3	.		147
HP:0002795	HP:0002878	Respiratory failure	2	ABCA3 CL E G H	21	33	OMIM:610921	Surfactant metabolism dysfunction, pulmonary, 3			147
HP:0002795	HP:0500165	Abnormal blood oxygen level	2	ABCA3 CL E G H	21	33	OMIM:610921	Surfactant metabolism dysfunction, pulmonary, 3			147
HP:0002795	HP:0002643	Neonatal respiratory distress	2	ABCB11 CL E G H	8647	42	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040283 - Occasional		146
HP:0002795	HP:0002643	Neonatal respiratory distress	2	ABCB4 CL E G H	5244	45	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040283 - Occasional		111
HP:0002795	HP:0002094	Dyspnea	2	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy			415
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy			415
HP:0002795	HP:0045049	Abnormal DLCO	2	ABCC6 CL E G H	368	57	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE			415
HP:0002795	HP:0002104	Apnea	2	ABCC9 CL E G H	10060	60	OMIM:619719	INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS			254
HP:0002795	HP:0002789	Tachypnea	2	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type	.		53
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type			53
HP:0002795	HP:0002094	Dyspnea	2	ABCG5 CL E G H	64240	13886	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent		67
HP:0002795	HP:0002094	Dyspnea	2	ABCG8 CL E G H	64241	13887	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent		76
HP:0002795	HP:0002094	Dyspnea	2	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency			197
HP:0002795	HP:0002094	Dyspnea	2	ACADS CL E G H	35	90	ORPHA:26792	Short chain acyl-CoA dehydrogenase deficiency			90
HP:0002795	HP:0002104	Apnea	2	ACADSB CL E G H	36	91	OMIM:610006	2-Methylbutyryl-Coa dehydrogenase deficiency			111
HP:0002795	HP:0002094	Dyspnea	2	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency			200
HP:0002795	HP:0002789	Tachypnea	2	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency	HP:0040284 - Very rare		200
HP:0002795	HP:0002789	Tachypnea	2	ACADVL CL E G H	37	92	OMIM:201475	Very long-chain acyl-CoA dehydrogenase deficiency	.		200
HP:0002795	HP:0005943	Respiratory arrest	2	ACADVL CL E G H	37	92	OMIM:201475	Very long-chain acyl-CoA dehydrogenase deficiency			200
HP:0002795	HP:0025428	Bronchospasm	2	ACAN CL E G H	176	319	OMIM:612813	Spondyloepimetaphyseal dysplasia, Aggrecan type	.		34
HP:0002795	HP:0002789	Tachypnea	2	ACAT1 CL E G H	38	93	ORPHA:134	Beta-ketothiolase deficiency	HP:0040281 - Very frequent		91
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	ACOX1 CL E G H	51	119	OMIM:618960	MITCHELL SYNDROME; MITCH			120
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation	.		16
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		96
HP:0002795	HP:0002792	Reduced vital capacity	2	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		96
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		96
HP:0002795	HP:0002878	Respiratory failure	2	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		96
HP:0002795	HP:0004878	Intercostal muscle weakness	2	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		96
HP:0002795	HP:0500165	Abnormal blood oxygen level	2	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy			96
HP:0002795	HP:0500164	Abnormal blood carbon dioxide level	2	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy			96
HP:0002795	HP:0002878	Respiratory failure	2	ACTA1 CL E G H	58	129	ORPHA:171433	Intermediate nemaline myopathy	HP:0040282 - Frequent		96
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	ACTA1 CL E G H	58	129	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.		96
HP:0002795	HP:0032341	Reduced forced vital capacity	2	ACTA1 CL E G H	58	129	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.		96
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3	.		96
HP:0002795	HP:0002878	Respiratory failure	2	ACTA1 CL E G H	58	129	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent		96
HP:0002795	HP:0002791	Hypoventilation	2	ACTA1 CL E G H	58	129	ORPHA:171436	Typical nemaline myopathy			96
HP:0002795	HP:0002094	Dyspnea	2	ACTA2 CL E G H	59	130	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			94
HP:0002795	HP:0002789	Tachypnea	2	ACTA2 CL E G H	59	130	OMIM:613834	Multisystemic smooth muscle dysfunction syndrome	.		94
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	ACTA2 CL E G H	59	130	OMIM:613834	Multisystemic smooth muscle dysfunction syndrome			94
HP:0002795	HP:0002094	Dyspnea	2	ACTC1 CL E G H	70	143	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional		208
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	ACTC1 CL E G H	70	143	ORPHA:99103	Atrial septal defect, ostium secundum type			208
HP:0002795	HP:0005317	Increased pulmonary vascular resistance	2	ACTC1 CL E G H	70	143	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040284 - Very rare		208
HP:0002795	HP:0002094	Dyspnea	2	ACTC1 CL E G H	70	143	OMIM:612098	Cardiomyopathy, familial hypertrophic, 11			208
HP:0002795	HP:0002792	Reduced vital capacity	2	ACTN2 CL E G H	88	164	OMIM:618654	MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES; MYOCOZ			307
HP:0002795	HP:0002878	Respiratory failure	2	ACVR1 CL E G H	90	171	OMIM:135100	Fibrodysplasia ossificans progressiva	.		49
HP:0002795	HP:0002204	Pulmonary embolism	2	ACVRL1 CL E G H	94	175	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional		178
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	ACVRL1 CL E G H	94	175	ORPHA:774	Hereditary hemorrhagic telangiectasia			178
HP:0002795	HP:0002094	Dyspnea	2	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2	.		178
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2			178
HP:0002795	HP:0002104	Apnea	2	ACY1 CL E G H	95	177	ORPHA:137754	Neurological conditions associated with aminoacylase 1 deficiency	HP:0040283 - Occasional		13
HP:0002795	HP:0002104	Apnea	2	ADAM22 CL E G H	53616	201	OMIM:617933	Epileptic encephalopathy, early infantile, 61
HP:0002795	HP:0002094	Dyspnea	2	ADAMTS13 CL E G H	11093	1366	OMIM:274150	Thrombotic thrombocytopenic purpura, hereditary			129
HP:0002795	HP:0002094	Dyspnea	2	ADCY6 CL E G H	112	237	ORPHA:2680	Hypomyelination neuropathy-arthrogryposis syndrome			2
HP:0002795	HP:0002104	Apnea	2	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional		88
HP:0002795	HP:0002094	Dyspnea	2	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome			47
HP:0002795	HP:4000007	Bronchoconstriction	2	ADRB2 CL E G H	154	286	OMIM:600807	Asthma, susceptibility to	.		5
HP:0002795	HP:0005943	Respiratory arrest	2	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS			1
HP:0002795	HP:0002104	Apnea	2	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome			6
HP:0002795	HP:0002104	Apnea	2	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome			6
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome			6
HP:0002795	HP:0002204	Pulmonary embolism	2	AGGF1 CL E G H	55109	24684	ORPHA:90308	Klippel-Trénaunay syndrome	HP:0040282 - Frequent		1
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		127
HP:0002795	HP:0002094	Dyspnea	2	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			127
HP:0002795	HP:0002792	Reduced vital capacity	2	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		127
HP:0002795	HP:0002878	Respiratory failure	2	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		127
HP:0002795	HP:0002094	Dyspnea	2	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes			127
HP:0002795	HP:0002104	Apnea	2	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes			127
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes			127
HP:0002795	HP:0005943	Respiratory arrest	2	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		127
HP:0002795	HP:0010307	Stridor	2	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		127
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	AGTPBP1 CL E G H	23287	17258	OMIM:618276	Neurodegeneration, childhood-onset, with cerebellar atrophy			1
HP:0002795	HP:0002878	Respiratory failure	2	AGTPBP1 CL E G H	23287	17258	ORPHA:2254	Pontocerebellar hypoplasia type 1			1
HP:0002795	HP:0010307	Stridor	2	AGTPBP1 CL E G H	23287	17258	ORPHA:2254	Pontocerebellar hypoplasia type 1			1
HP:0002795	HP:0002878	Respiratory failure	2	AHCY CL E G H	191	343	ORPHA:88618	S-adenosylhomocysteine hydrolase deficiency	HP:0040283 - Occasional		31
HP:0002795	HP:0002104	Apnea	2	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome			36
HP:0002795	HP:0002781	Upper airway obstruction	2	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome	HP:0040282 - Frequent		36
HP:0002795	HP:0004887	Respiratory failure requiring assisted ventilation	2	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome	HP:0040283 - Occasional		36
HP:0002795	HP:0025267	Snoring	2	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome	HP:0040283 - Occasional		36
HP:0002795	HP:0002104	Apnea	2	AHDC1 CL E G H	27245	25230	OMIM:615829	Xia-Gibbs syndrome			36
HP:0002795	HP:0025267	Snoring	2	AHDC1 CL E G H	27245	25230	OMIM:615829	Xia-Gibbs syndrome	.		36
HP:0002795	HP:0002104	Apnea	2	AHI1 CL E G H	54806	21575	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		175
HP:0002795	HP:0002789	Tachypnea	2	AHI1 CL E G H	54806	21575	ORPHA:475	Joubert syndrome			175
HP:0002795	HP:0002104	Apnea	2	AHI1 CL E G H	54806	21575	OMIM:608629	Joubert syndrome 3			175
HP:0002795	HP:0002789	Tachypnea	2	AHI1 CL E G H	54806	21575	OMIM:608629	Joubert syndrome 3			175
HP:0002795	HP:0002790	Neonatal breathing dysregulation	2	AHI1 CL E G H	54806	21575	OMIM:608629	Joubert syndrome 3	.		175
HP:0002795	HP:0002104	Apnea	2	AHI1 CL E G H	54806	21575	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040281 - Very frequent		175
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	AIFM1 CL E G H	9131	8768	OMIM:300816	Combined oxidative phosphorylation deficiency 6	.		60
HP:0002795	HP:0002094	Dyspnea	2	AIFM1 CL E G H	9131	8768	ORPHA:238329	Severe X-linked mitochondrial encephalomyopathy			60
HP:0002795	HP:0002104	Apnea	2	AIP CL E G H	9049	358	ORPHA:963	Acromegaly			95
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		1
HP:0002795	HP:0002094	Dyspnea	2	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			1
HP:0002795	HP:0002792	Reduced vital capacity	2	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		1
HP:0002795	HP:0002878	Respiratory failure	2	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		1
HP:0002795	HP:0002204	Pulmonary embolism	2	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040282 - Frequent		54
HP:0002795	HP:0004887	Respiratory failure requiring assisted ventilation	2	ALAD CL E G H	210	395	ORPHA:100924	Porphyria due to ALA dehydratase deficiency			62
HP:0002795	HP:0002203	Respiratory paralysis	2	ALAD CL E G H	210	395	OMIM:612740	Porphyria, acute hepatic	.		62
HP:0002795	HP:0002094	Dyspnea	2	ALAS2 CL E G H	212	397	ORPHA:75563	X-linked sideroblastic anemia	HP:0040283 - Occasional		72
HP:0002795	HP:0002643	Neonatal respiratory distress	2	ALDH1A2 CL E G H	8854	15472	OMIM:620025
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	ALDH1A2 CL E G H	8854	15472	OMIM:620025
HP:0002795	HP:0002643	Neonatal respiratory distress	2	ALDH7A1 CL E G H	501	877	OMIM:266100	Epilepsy, pyridoxine-dependent	.		227
HP:0002795	HP:0002643	Neonatal respiratory distress	2	ALDH7A1 CL E G H	501	877	ORPHA:3006	Pyridoxine-dependent epilepsy	HP:0040282 - Frequent		227
HP:0002795	HP:0002878	Respiratory failure	2	ALG1 CL E G H	56052	18294	ORPHA:79327	ALG1-CDG	HP:0040283 - Occasional		58
HP:0002795	HP:0002643	Neonatal respiratory distress	2	ALG14 CL E G H	199857	28287	OMIM:619036	MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA			12
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040282 - Frequent		404
HP:0002795	HP:0002094	Dyspnea	2	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome			404
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome			404
HP:0002795	HP:0006510	Chronic pulmonary obstruction	2	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040283 - Occasional		404
HP:0002795	HP:4000007	Bronchoconstriction	2	ALOX5 CL E G H	240	435	OMIM:600807	Asthma, susceptibility to	.		4
HP:0002795	HP:0002104	Apnea	2	ALPL CL E G H	249	438	OMIM:241500	Hypophosphatasia, infantile	.		126
HP:0002795	HP:0002104	Apnea	2	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis	.		34
HP:0002795	HP:0002094	Dyspnea	2	ANG CL E G H	283	483	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		32
HP:0002795	HP:0002878	Respiratory failure	2	ANG CL E G H	283	483	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		32
HP:0002795	HP:0002094	Dyspnea	2	ANXA11 CL E G H	311	535	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0002795	HP:0002878	Respiratory failure	2	ANXA11 CL E G H	311	535	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0002795	HP:0002104	Apnea	2	AP3D1 CL E G H	8943	568	OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10; HPS10			1
HP:0002795	HP:0002094	Dyspnea	2	APOB CL E G H	338	603	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent		356
HP:0002795	HP:0002104	Apnea	2	ARCN1 CL E G H	372	649	OMIM:617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay			3
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome			147
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1			147
HP:0002795	HP:0002104	Apnea	2	ARL13B CL E G H	200894	25419	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		62
HP:0002795	HP:0002789	Tachypnea	2	ARL13B CL E G H	200894	25419	ORPHA:475	Joubert syndrome			62
HP:0002795	HP:0002883	Hyperventilation	2	ARL13B CL E G H	200894	25419	OMIM:612291	JOUBERT SYNDROME 8; JBTS8			62
HP:0002795	HP:0002104	Apnea	2	ARL3 CL E G H	403	694	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		1
HP:0002795	HP:0002789	Tachypnea	2	ARL3 CL E G H	403	694	ORPHA:475	Joubert syndrome			1
HP:0002795	HP:0002104	Apnea	2	ARL3 CL E G H	403	694	OMIM:618161	JOUBERT SYNDROME 35; JBTS35			1
HP:0002795	HP:0002104	Apnea	2	ARMC9 CL E G H	80210	20730	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent
HP:0002795	HP:0002789	Tachypnea	2	ARMC9 CL E G H	80210	20730	ORPHA:475	Joubert syndrome
HP:0002795	HP:0002104	Apnea	2	ARMC9 CL E G H	80210	20730	OMIM:617622	JOUBERT SYNDROME 30; JBTS30
HP:0002795	HP:0002789	Tachypnea	2	ARMC9 CL E G H	80210	20730	OMIM:617622	JOUBERT SYNDROME 30; JBTS30
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI			120
HP:0002795	HP:0002104	Apnea	2	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI			120
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI			120
HP:0002795	HP:0002104	Apnea	2	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata
HP:0002795	HP:0002643	Neonatal respiratory distress	2	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata	HP:0040283 - Occasional
HP:0002795	HP:0002789	Tachypnea	2	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata	HP:0040283 - Occasional
HP:0002795	HP:0004887	Respiratory failure requiring assisted ventilation	2	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata	HP:0040283 - Occasional
HP:0002795	HP:0006510	Chronic pulmonary obstruction	2	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		1
HP:0002795	HP:0002094	Dyspnea	2	ARX CL E G H	170302	18060	OMIM:308350	Developmental and epileptic encephalopathy 1	.		166
HP:0002795	HP:0002094	Dyspnea	2	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease			78
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	ASAH1 CL E G H	427	735	OMIM:159950	Spinal muscular atrophy with progressive myoclonic epilepsy	.		78
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	ASAH1 CL E G H	427	735	ORPHA:2590	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome	HP:0040282 - Frequent		78
HP:0002795	HP:0002878	Respiratory failure	2	ASAH1 CL E G H	427	735	ORPHA:2590	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome	HP:0040283 - Occasional		78
HP:0002795	HP:0002643	Neonatal respiratory distress	2	ASCC1 CL E G H	51008	24268	OMIM:616867	Spinal muscular atrophy with congenital bone fractures 2			2
HP:0002795	HP:0002878	Respiratory failure	2	ASCC1 CL E G H	51008	24268	OMIM:616867	Spinal muscular atrophy with congenital bone fractures 2			2
HP:0002795	HP:0002104	Apnea	2	ASCL1 CL E G H	429	738	ORPHA:99803	Haddad syndrome			15
HP:0002795	HP:0002791	Hypoventilation	2	ASCL1 CL E G H	429	738	ORPHA:99803	Haddad syndrome			15
HP:0002795	HP:0002104	Apnea	2	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome	HP:0040282 - Frequent		145
HP:0002795	HP:0002643	Neonatal respiratory distress	2	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome			145
HP:0002795	HP:0002878	Respiratory failure	2	ATAD1 CL E G H	84896	25903	OMIM:618011	Hyperekplexia 4
HP:0002795	HP:0002104	Apnea	2	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies			16
HP:0002795	HP:0002094	Dyspnea	2	ATP11A CL E G H	23250	13552	ORPHA:2032	Idiopathic pulmonary fibrosis
HP:0002795	HP:0030830	Crackles	2	ATP11A CL E G H	23250	13552	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent
HP:0002795	HP:0002094	Dyspnea	2	ATP13A3 CL E G H	79572	24113	OMIM:265400	Pulmonary hypertension, primary, autosomal recessive
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	ATP13A3 CL E G H	79572	24113	OMIM:265400	Pulmonary hypertension, primary, autosomal recessive
HP:0002795	HP:0002094	Dyspnea	2	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood			239
HP:0002795	HP:0002104	Apnea	2	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional		239
HP:0002795	HP:0002104	Apnea	2	ATP1A2 CL E G H	477	800	OMIM:619605	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98; DEE98			239
HP:0002795	HP:0002094	Dyspnea	2	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood			150
HP:0002795	HP:0002104	Apnea	2	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional		150
HP:0002795	HP:0002104	Apnea	2	ATP1A3 CL E G H	478	801	OMIM:619606	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99			150
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	ATP5F1A CL E G H	498	823	OMIM:616045	Combined oxidative phosphorylation deficiency 22
HP:0002795	HP:0002104	Apnea	2	ATP5F1A CL E G H	498	823	OMIM:615228	Mitochondrial complex V (atp synthase) deficiency, nuclear type 4	.
HP:0002795	HP:0002094	Dyspnea	2	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0002795	HP:0002104	Apnea	2	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0002795	HP:0002883	Hyperventilation	2	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0002795	HP:0002094	Dyspnea	2	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome			5
HP:0002795	HP:0030828	Wheezing	2	ATP8B1 CL E G H	5205	3706	OMIM:211600	Cholestasis, progressive familial intrahepatic 1			144
HP:0002795	HP:0002643	Neonatal respiratory distress	2	ATP8B1 CL E G H	5205	3706	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040283 - Occasional		144
HP:0002795	HP:0002094	Dyspnea	2	ATRX CL E G H	546	886	ORPHA:231401	Alpha-thalassemia-myelodysplastic syndrome	HP:0040282 - Frequent		169
HP:0002795	HP:0025428	Bronchospasm	2	ATRX CL E G H	546	886	ORPHA:100075	Neuroendocrine tumor of stomach	HP:0040284 - Very rare		169
HP:0002795	HP:0002878	Respiratory failure	2	ATXN1 CL E G H	6310	10548	ORPHA:98755	Spinocerebellar ataxia type 1	HP:0040283 - Occasional		19
HP:0002795	HP:0002094	Dyspnea	2	ATXN2 CL E G H	6311	10555	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		11
HP:0002795	HP:0002878	Respiratory failure	2	ATXN2 CL E G H	6311	10555	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		11
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040283 - Occasional		38
HP:0002795	HP:0002094	Dyspnea	2	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome			38
HP:0002795	HP:0005943	Respiratory arrest	2	B3GALT6 CL E G H	126792	17978	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity			38
HP:0002795	HP:0002104	Apnea	2	B9D1 CL E G H	27077	24123	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		28
HP:0002795	HP:0002789	Tachypnea	2	B9D1 CL E G H	27077	24123	ORPHA:475	Joubert syndrome			28
HP:0002795	HP:0002104	Apnea	2	B9D2 CL E G H	80776	28636	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		34
HP:0002795	HP:0002789	Tachypnea	2	B9D2 CL E G H	80776	28636	ORPHA:475	Joubert syndrome			34
HP:0002795	HP:0032341	Reduced forced vital capacity	2	BAG3 CL E G H	9531	939	OMIM:612954	Myopathy, myofibrillar, 6	.		204
HP:0002795	HP:0002094	Dyspnea	2	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome			22
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome			22
HP:0002795	HP:0002094	Dyspnea	2	BAP1 CL E G H	8314	950	ORPHA:50251	Pleural mesothelioma	HP:0040282 - Frequent		184
HP:0002795	HP:0002878	Respiratory failure	2	BCHE CL E G H	590	983	ORPHA:132	Butyrylcholinesterase deficiency	HP:0040282 - Frequent		67
HP:0002795	HP:0004887	Respiratory failure requiring assisted ventilation	2	BCHE CL E G H	590	983	ORPHA:132	Butyrylcholinesterase deficiency	HP:0040284 - Very rare		67
HP:0002795	HP:0002104	Apnea	2	BCHE CL E G H	590	983	OMIM:617936	BUTYRYLCHOLINESTERASE DEFICIENCY; BCHED			67
HP:0002795	HP:0002094	Dyspnea	2	BCOR CL E G H	54880	20893	ORPHA:520	Acute promyelocytic leukemia			101
HP:0002795	HP:0031245	Productive cough	2	BCOR CL E G H	54880	20893	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional		101
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant			46
HP:0002795	HP:0002104	Apnea	2	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant			46
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	BICD2 CL E G H	23299	17208	OMIM:618291	Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant	.		46
HP:0002795	HP:0002878	Respiratory failure	2	BICD2 CL E G H	23299	17208	OMIM:618291	Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant	.		46
HP:0002795	HP:0002643	Neonatal respiratory distress	2	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy			99
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040283 - Occasional		99
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	BIN1 CL E G H	274	1052	OMIM:255200	Myopathy, centronuclear, 2	HP:0040283 - Occasional		99
HP:0002795	HP:0002878	Respiratory failure	2	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome	HP:0040284 - Very rare		314
HP:0002795	HP:0006510	Chronic pulmonary obstruction	2	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome	HP:0040283 - Occasional		314
HP:0002795	HP:0002104	Apnea	2	BMP2 CL E G H	650	1069	OMIM:617877	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies			13
HP:0002795	HP:0002094	Dyspnea	2	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS			78
HP:0002795	HP:0002094	Dyspnea	2	BMPER CL E G H	168667	24154	ORPHA:66637	Diaphanospondylodysostosis			78
HP:0002795	HP:0002094	Dyspnea	2	BMPR2 CL E G H	659	1078	OMIM:178600	Pulmonary hypertension, primary, 1	HP:0040282 - Frequent		525
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	BMPR2 CL E G H	659	1078	OMIM:178600	Pulmonary hypertension, primary, 1			525
HP:0002795	HP:0005317	Increased pulmonary vascular resistance	2	BMPR2 CL E G H	659	1078	OMIM:178600	Pulmonary hypertension, primary, 1			525
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	BMPR2 CL E G H	659	1078	OMIM:265450	PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT; PVOD1			525
HP:0002795	HP:0002094	Dyspnea	2	BOLA3 CL E G H	388962	24415	OMIM:614299	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia			14
HP:0002795	HP:0002789	Tachypnea	2	BOLA3 CL E G H	388962	24415	OMIM:614299	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia			14
HP:0002795	HP:0002878	Respiratory failure	2	BOLA3 CL E G H	388962	24415	OMIM:614299	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia	.		14
HP:0002795	HP:0002104	Apnea	2	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma			276
HP:0002795	HP:0002104	Apnea	2	BRAT1 CL E G H	221927	21701	OMIM:618056	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures	.		20
HP:0002795	HP:0002104	Apnea	2	BRAT1 CL E G H	221927	21701	OMIM:614498	Rigidity and multifocal seizure syndrome, lethal neonatal	.		20
HP:0002795	HP:0002878	Respiratory failure	2	BSCL2 CL E G H	26580	15832	ORPHA:363400	Severe neurodegenerative syndrome with lipodystrophy	HP:0040283 - Occasional		105
HP:0002795	HP:0002094	Dyspnea	2	BTD CL E G H	686	1122	ORPHA:79241	Biotinidase deficiency			223
HP:0002795	HP:0002104	Apnea	2	BTD CL E G H	686	1122	ORPHA:79241	Biotinidase deficiency	HP:0040283 - Occasional		223
HP:0002795	HP:0002883	Hyperventilation	2	BTD CL E G H	686	1122	ORPHA:79241	Biotinidase deficiency	HP:0040283 - Occasional		223
HP:0002795	HP:0002104	Apnea	2	BTD CL E G H	686	1122	OMIM:253260	Biotinidase deficiencymultiple carboxylase deficiency, late-onset	.		223
HP:0002795	HP:0002789	Tachypnea	2	BTD CL E G H	686	1122	OMIM:253260	Biotinidase deficiencymultiple carboxylase deficiency, late-onset	.		223
HP:0002795	HP:0030828	Wheezing	2	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked			109
HP:0002795	HP:0002094	Dyspnea	2	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis	HP:0040282 - Frequent		1
HP:0002795	HP:0002781	Upper airway obstruction	2	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional		1
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	BTNL2 CL E G H	56244	1142	OMIM:612387	Sarcoidosis, susceptibility to, 2			1
HP:0002795	HP:0002094	Dyspnea	2	BTNL2 CL E G H	56244	1142	OMIM:612387	Sarcoidosis, susceptibility to, 2	.		1
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	BTNL2 CL E G H	56244	1142	OMIM:612387	Sarcoidosis, susceptibility to, 2			1
HP:0002795	HP:0500165	Abnormal blood oxygen level	2	BTNL2 CL E G H	56244	1142	OMIM:612387	Sarcoidosis, susceptibility to, 2			1
HP:0002795	HP:0002104	Apnea	2	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional		5
HP:0002795	HP:0002104	Apnea	2	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional		76
HP:0002795	HP:0002104	Apnea	2	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional
HP:0002795	HP:0002104	Apnea	2	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14			27
HP:0002795	HP:0002204	Pulmonary embolism	2	C4A CL E G H	720	1323	ORPHA:117	Behçet disease	HP:0040283 - Occasional		1
HP:0002795	HP:0002094	Dyspnea	2	C9ORF72 CL E G H	203228	28337	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		56
HP:0002795	HP:0002878	Respiratory failure	2	C9ORF72 CL E G H	203228	28337	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		56
HP:0002795	HP:0002104	Apnea	2	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis			29
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis			29
HP:0002795	HP:0002789	Tachypnea	2	CA5A CL E G H	763	1377	OMIM:615751	Hyperammonemia due to carbonic anhydrase VA deficiency	.		10
HP:0002795	HP:0002883	Hyperventilation	2	CABP4 CL E G H	57010	1386	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040283 - Occasional		94
HP:0002795	HP:0002094	Dyspnea	2	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood			449
HP:0002795	HP:0002104	Apnea	2	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional		449
HP:0002795	HP:0002104	Apnea	2	CACNA1C CL E G H	775	1390	OMIM:620029				572
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	CACNA1C CL E G H	775	1390	OMIM:620029				572
HP:0002795	HP:0010307	Stridor	2	CACNA1C CL E G H	775	1390	OMIM:620029				572
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	CACNA1D CL E G H	776	1391	OMIM:615474	Primary aldosteronism, seizures, and neurologic abnormalities			51
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	CACNA1D CL E G H	776	1391	ORPHA:369929	Primary hyperaldosteronism-seizures-neurological abnormalities syndrome			51
HP:0002795	HP:0002883	Hyperventilation	2	CACNA1H CL E G H	8912	1395	ORPHA:64280	Childhood absence epilepsy	HP:0040283 - Occasional		75
HP:0002795	HP:0002203	Respiratory paralysis	2	CACNA1S CL E G H	779	1397	ORPHA:681	Hypokalemic periodic paralysis	HP:0040284 - Very rare		247
HP:0002795	HP:0002789	Tachypnea	2	CACNA1S CL E G H	779	1397	ORPHA:423	Malignant hyperthermia of anesthesia	HP:0040282 - Frequent		247
HP:0002795	HP:0500164	Abnormal blood carbon dioxide level	2	CACNA1S CL E G H	779	1397	ORPHA:423	Malignant hyperthermia of anesthesia			247
HP:0002795	HP:0500164	Abnormal blood carbon dioxide level	2	CACNA1S CL E G H	779	1397	OMIM:601887	Malignant hyperthermia, susceptibility to, 5			247
HP:0002795	HP:0002203	Respiratory paralysis	2	CACNA1S CL E G H	779	1397	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040284 - Very rare		247
HP:0002795	HP:0002104	Apnea	2	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0002795	HP:0002883	Hyperventilation	2	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0002795	HP:0002643	Neonatal respiratory distress	2	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1			85
HP:0002795	HP:0006510	Chronic pulmonary obstruction	2	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58			3
HP:0002795	HP:0025428	Bronchospasm	2	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0002795	HP:0002883	Hyperventilation	2	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia			118
HP:0002795	HP:0002094	Dyspnea	2	CASR CL E G H	846	1514	OMIM:239200	Hyperparathyroidism, neonatal severe	.		272
HP:0002795	HP:0002789	Tachypnea	2	CASR CL E G H	846	1514	OMIM:239200	Hyperparathyroidism, neonatal severe	.		272
HP:0002795	HP:0002094	Dyspnea	2	CAV1 CL E G H	857	1527	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040281 - Very frequent		11
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	CAV1 CL E G H	857	1527	ORPHA:220393	Diffuse cutaneous systemic sclerosis			11
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	CAV1 CL E G H	857	1527	ORPHA:220402	Limited cutaneous systemic sclerosis			11
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7			11
HP:0002795	HP:0002094	Dyspnea	2	CAV1 CL E G H	857	1527	OMIM:615343	Pulmonary hypertension, primary, 3	.		11
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	CAV1 CL E G H	857	1527	OMIM:615343	Pulmonary hypertension, primary, 3	.		11
HP:0002795	HP:0005317	Increased pulmonary vascular resistance	2	CAV1 CL E G H	857	1527	OMIM:615343	Pulmonary hypertension, primary, 3	.		11
HP:0002795	HP:0002204	Pulmonary embolism	2	CBS CL E G H	875	1550	ORPHA:394	Classic homocystinuria	HP:0040282 - Frequent		242
HP:0002795	HP:0002104	Apnea	2	CBY1 CL E G H	25776	1307	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		1
HP:0002795	HP:0002789	Tachypnea	2	CBY1 CL E G H	25776	1307	ORPHA:475	Joubert syndrome			1
HP:0002795	HP:0002104	Apnea	2	CC2D2A CL E G H	57545	29253	OMIM:619111	COACH SYNDROME 2; COACH2			247
HP:0002795	HP:0002104	Apnea	2	CC2D2A CL E G H	57545	29253	OMIM:612285	Joubert syndrome 9			247
HP:0002795	HP:0002789	Tachypnea	2	CC2D2A CL E G H	57545	29253	OMIM:612285	Joubert syndrome 9			247
HP:0002795	HP:0002104	Apnea	2	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040281 - Very frequent		247
HP:0002795	HP:0002104	Apnea	2	CC2D2A CL E G H	57545	29253	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040281 - Very frequent		247
HP:0002795	HP:0002789	Tachypnea	2	CC2D2A CL E G H	57545	29253	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040281 - Very frequent		247
HP:0002795	HP:0012262	Abnormal ciliary motility	2	CCDC103 CL E G H	388389	32700	OMIM:614679	Ciliary dyskinesia, primary, 17			36
HP:0002795	HP:0002643	Neonatal respiratory distress	2	CCDC103 CL E G H	388389	32700	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		36
HP:0002795	HP:0002878	Respiratory failure	2	CCDC103 CL E G H	388389	32700	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		36
HP:0002795	HP:0030828	Wheezing	2	CCDC103 CL E G H	388389	32700	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		36
HP:0002795	HP:0031245	Productive cough	2	CCDC103 CL E G H	388389	32700	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		36
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	CCDC174 CL E G H	51244	28033	OMIM:616816	Hypotonia, infantile, with psychomotor retardation	.		1
HP:0002795	HP:0002643	Neonatal respiratory distress	2	CCDC39 CL E G H	339829	25244	OMIM:613807	Ciliary dyskinesia, primary, 14			126
HP:0002795	HP:0012262	Abnormal ciliary motility	2	CCDC39 CL E G H	339829	25244	OMIM:613807	Ciliary dyskinesia, primary, 14	.		126
HP:0002795	HP:0030828	Wheezing	2	CCDC39 CL E G H	339829	25244	OMIM:613807	Ciliary dyskinesia, primary, 14			126
HP:0002795	HP:0031417	Rhinorrhea	2	CCDC39 CL E G H	339829	25244	OMIM:613807	Ciliary dyskinesia, primary, 14			126
HP:0002795	HP:0002643	Neonatal respiratory distress	2	CCDC39 CL E G H	339829	25244	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		126
HP:0002795	HP:0002878	Respiratory failure	2	CCDC39 CL E G H	339829	25244	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		126
HP:0002795	HP:0030828	Wheezing	2	CCDC39 CL E G H	339829	25244	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		126
HP:0002795	HP:0031245	Productive cough	2	CCDC39 CL E G H	339829	25244	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		126
HP:0002795	HP:0002643	Neonatal respiratory distress	2	CCDC40 CL E G H	55036	26090	OMIM:613808	CILIARY DYSKINESIA, PRIMARY, 15; CILD15			182
HP:0002795	HP:0012262	Abnormal ciliary motility	2	CCDC40 CL E G H	55036	26090	OMIM:613808	CILIARY DYSKINESIA, PRIMARY, 15; CILD15			182
HP:0002795	HP:0030828	Wheezing	2	CCDC40 CL E G H	55036	26090	OMIM:613808	CILIARY DYSKINESIA, PRIMARY, 15; CILD15			182
HP:0002795	HP:0031417	Rhinorrhea	2	CCDC40 CL E G H	55036	26090	OMIM:613808	CILIARY DYSKINESIA, PRIMARY, 15; CILD15			182
HP:0002795	HP:0002643	Neonatal respiratory distress	2	CCDC40 CL E G H	55036	26090	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		182
HP:0002795	HP:0002878	Respiratory failure	2	CCDC40 CL E G H	55036	26090	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		182
HP:0002795	HP:0030828	Wheezing	2	CCDC40 CL E G H	55036	26090	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		182
HP:0002795	HP:0031245	Productive cough	2	CCDC40 CL E G H	55036	26090	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		182
HP:0002795	HP:0002104	Apnea	2	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome
HP:0002795	HP:0002643	Neonatal respiratory distress	2	CCDC65 CL E G H	85478	29937	OMIM:615504	Ciliary dyskinesia, primary, 27			23
HP:0002795	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	2	CCDC65 CL E G H	85478	29937	OMIM:615504	Ciliary dyskinesia, primary, 27	.		23
HP:0002795	HP:0012262	Abnormal ciliary motility	2	CCDC65 CL E G H	85478	29937	OMIM:615504	Ciliary dyskinesia, primary, 27			23
HP:0002795	HP:0002643	Neonatal respiratory distress	2	CCDC65 CL E G H	85478	29937	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		23
HP:0002795	HP:0002878	Respiratory failure	2	CCDC65 CL E G H	85478	29937	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		23
HP:0002795	HP:0030828	Wheezing	2	CCDC65 CL E G H	85478	29937	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		23
HP:0002795	HP:0031245	Productive cough	2	CCDC65 CL E G H	85478	29937	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		23
HP:0002795	HP:4000007	Bronchoconstriction	2	CCL11 CL E G H	6356	10610	OMIM:600807	Asthma, susceptibility to	.		2
HP:0002795	HP:0002094	Dyspnea	2	CCN2 CL E G H	1490	2500	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040281 - Very frequent
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	CCN2 CL E G H	1490	2500	ORPHA:220393	Diffuse cutaneous systemic sclerosis
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	CCN2 CL E G H	1490	2500	ORPHA:220402	Limited cutaneous systemic sclerosis
HP:0002795	HP:0002094	Dyspnea	2	CCNF CL E G H	899	1591	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0002795	HP:0002878	Respiratory failure	2	CCNF CL E G H	899	1591	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0002795	HP:0012262	Abnormal ciliary motility	2	CCNO CL E G H	10309	18576	OMIM:615872	Ciliary dyskinesia, primary, 29			23
HP:0002795	HP:0002643	Neonatal respiratory distress	2	CCNO CL E G H	10309	18576	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		23
HP:0002795	HP:0002878	Respiratory failure	2	CCNO CL E G H	10309	18576	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		23
HP:0002795	HP:0030828	Wheezing	2	CCNO CL E G H	10309	18576	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		23
HP:0002795	HP:0031245	Productive cough	2	CCNO CL E G H	10309	18576	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		23
HP:0002795	HP:0002204	Pulmonary embolism	2	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0002795	HP:0002094	Dyspnea	2	CCR6 CL E G H	1235	1607	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040281 - Very frequent
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	CCR6 CL E G H	1235	1607	ORPHA:220393	Diffuse cutaneous systemic sclerosis
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	CCR6 CL E G H	1235	1607	ORPHA:220402	Limited cutaneous systemic sclerosis
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	CD19 CL E G H	930	1633	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional		38
HP:0002795	HP:0500165	Abnormal blood oxygen level	2	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM			33
HP:0002795	HP:0002204	Pulmonary embolism	2	CD55 CL E G H	1604	2665	OMIM:226300	Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy	.		9
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	CD81 CL E G H	975	1701	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional		1
HP:0002795	HP:0002104	Apnea	2	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0002795	HP:0002094	Dyspnea	2	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent		9
HP:0002795	HP:0002878	Respiratory failure	2	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent		9
HP:0002795	HP:0002094	Dyspnea	2	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent		31
HP:0002795	HP:0002878	Respiratory failure	2	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent		31
HP:0002795	HP:0002104	Apnea	2	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder			8
HP:0002795	HP:0002104	Apnea	2	CDKL5 CL E G H	6792	11411	ORPHA:3095	Atypical Rett syndrome			405
HP:0002795	HP:0002789	Tachypnea	2	CDKL5 CL E G H	6792	11411	ORPHA:3095	Atypical Rett syndrome			405
HP:0002795	HP:0002883	Hyperventilation	2	CDKL5 CL E G H	6792	11411	OMIM:300672	Developmental and epileptic encephalopathy 2	.		405
HP:0002795	HP:0002104	Apnea	2	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly			200
HP:0002795	HP:0002104	Apnea	2	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly			200
HP:0002795	HP:0002104	Apnea	2	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			200
HP:0002795	HP:0002104	Apnea	2	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly			200
HP:0002795	HP:0002094	Dyspnea	2	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent		50
HP:0002795	HP:0002878	Respiratory failure	2	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent		50
HP:0002795	HP:0032342	Reduced forced expiratory volume in one second	2	CEACAM3 CL E G H	1084	1815	ORPHA:586	Cystic fibrosis
HP:0002795	HP:0032342	Reduced forced expiratory volume in one second	2	CEACAM6 CL E G H	4680	1818	ORPHA:586	Cystic fibrosis			1
HP:0002795	HP:0002104	Apnea	2	CEP104 CL E G H	9731	24866	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		5
HP:0002795	HP:0002789	Tachypnea	2	CEP104 CL E G H	9731	24866	ORPHA:475	Joubert syndrome			5
HP:0002795	HP:0002104	Apnea	2	CEP120 CL E G H	153241	26690	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		7
HP:0002795	HP:0002789	Tachypnea	2	CEP120 CL E G H	153241	26690	ORPHA:475	Joubert syndrome			7
HP:0002795	HP:0002104	Apnea	2	CEP120 CL E G H	153241	26690	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040281 - Very frequent		7
HP:0002795	HP:0002104	Apnea	2	CEP290 CL E G H	80184	29021	OMIM:610188	Joubert syndrome 5			342
HP:0002795	HP:0002789	Tachypnea	2	CEP290 CL E G H	80184	29021	OMIM:610188	Joubert syndrome 5			342
HP:0002795	HP:0002790	Neonatal breathing dysregulation	2	CEP290 CL E G H	80184	29021	OMIM:610188	Joubert syndrome 5	.		342
HP:0002795	HP:0002104	Apnea	2	CEP290 CL E G H	80184	29021	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040281 - Very frequent		342
HP:0002795	HP:0002789	Tachypnea	2	CEP290 CL E G H	80184	29021	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040281 - Very frequent		342
HP:0002795	HP:0002104	Apnea	2	CEP41 CL E G H	95681	12370	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		90
HP:0002795	HP:0002789	Tachypnea	2	CEP41 CL E G H	95681	12370	ORPHA:475	Joubert syndrome			90
HP:0002795	HP:0002104	Apnea	2	CEP41 CL E G H	95681	12370	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040281 - Very frequent		90
HP:0002795	HP:0002104	Apnea	2	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional		17
HP:0002795	HP:0002104	Apnea	2	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2			17
HP:0002795	HP:0002643	Neonatal respiratory distress	2	CFAP221 CL E G H	200373	33720	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0002795	HP:0002878	Respiratory failure	2	CFAP221 CL E G H	200373	33720	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0002795	HP:0030828	Wheezing	2	CFAP221 CL E G H	200373	33720	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0002795	HP:0031245	Productive cough	2	CFAP221 CL E G H	200373	33720	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0002795	HP:0002643	Neonatal respiratory distress	2	CFAP298 CL E G H	56683	1301	OMIM:615500	Ciliary dyskinesia, primary, 26
HP:0002795	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	2	CFAP298 CL E G H	56683	1301	OMIM:615500	Ciliary dyskinesia, primary, 26	.
HP:0002795	HP:0012262	Abnormal ciliary motility	2	CFAP298 CL E G H	56683	1301	OMIM:615500	Ciliary dyskinesia, primary, 26
HP:0002795	HP:0002643	Neonatal respiratory distress	2	CFAP298 CL E G H	56683	1301	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0002795	HP:0002878	Respiratory failure	2	CFAP298 CL E G H	56683	1301	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0002795	HP:0030828	Wheezing	2	CFAP298 CL E G H	56683	1301	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0002795	HP:0031245	Productive cough	2	CFAP298 CL E G H	56683	1301	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0002795	HP:0002643	Neonatal respiratory distress	2	CFAP300 CL E G H	85016	28188	OMIM:618063	Ciliary dyskinesia, primary, 38	.
HP:0002795	HP:0002643	Neonatal respiratory distress	2	CFAP300 CL E G H	85016	28188	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0002795	HP:0002878	Respiratory failure	2	CFAP300 CL E G H	85016	28188	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0002795	HP:0030828	Wheezing	2	CFAP300 CL E G H	85016	28188	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0002795	HP:0031245	Productive cough	2	CFAP300 CL E G H	85016	28188	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0002795	HP:0002094	Dyspnea	2	CFAP410 CL E G H	755	1260	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0002795	HP:0002878	Respiratory failure	2	CFAP410 CL E G H	755	1260	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	CFAP410 CL E G H	755	1260	OMIM:602271	Spondylometaphyseal dysplasia, axial
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	CFL2 CL E G H	1073	1875	OMIM:610687	Nemaline myopathy 7	HP:0040283 - Occasional		35
HP:0002795	HP:0002791	Hypoventilation	2	CFL2 CL E G H	1073	1875	ORPHA:171436	Typical nemaline myopathy			35
HP:0002795	HP:0032341	Reduced forced vital capacity	2	CFTR CL E G H	1080	1884	OMIM:219700	Cystic fibrosis			1371
HP:0002795	HP:0032342	Reduced forced expiratory volume in one second	2	CFTR CL E G H	1080	1884	OMIM:219700	Cystic fibrosis			1371
HP:0002795	HP:0032342	Reduced forced expiratory volume in one second	2	CFTR CL E G H	1080	1884	ORPHA:586	Cystic fibrosis			1371
HP:0002795	HP:0032359	Decreased forced expiratory flow 25-75%	2	CFTR CL E G H	1080	1884	OMIM:219700	Cystic fibrosis			1371
HP:0002795	HP:0002094	Dyspnea	2	CFTR CL E G H	1080	1884	ORPHA:60033	Idiopathic bronchiectasis	HP:0040282 - Frequent		1371
HP:0002795	HP:0030828	Wheezing	2	CFTR CL E G H	1080	1884	ORPHA:60033	Idiopathic bronchiectasis	HP:0040282 - Frequent		1371
HP:0002795	HP:0030830	Crackles	2	CFTR CL E G H	1080	1884	ORPHA:60033	Idiopathic bronchiectasis	HP:0040282 - Frequent		1371
HP:0002795	HP:0030877	Reduced FEV1/FVC ratio	2	CFTR CL E G H	1080	1884	ORPHA:60033	Idiopathic bronchiectasis	HP:0040282 - Frequent		1371
HP:0002795	HP:0031245	Productive cough	2	CFTR CL E G H	1080	1884	ORPHA:60033	Idiopathic bronchiectasis	HP:0040281 - Very frequent		1371
HP:0002795	HP:0002104	Apnea	2	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40			16
HP:0002795	HP:0002094	Dyspnea	2	CHAT CL E G H	1103	1912	OMIM:254210	Myasthenic syndrome, congenital, 6, presynaptic			65
HP:0002795	HP:0002104	Apnea	2	CHAT CL E G H	1103	1912	OMIM:254210	Myasthenic syndrome, congenital, 6, presynaptic			65
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	CHAT CL E G H	1103	1912	OMIM:254210	Myasthenic syndrome, congenital, 6, presynaptic	.		65
HP:0002795	HP:0002094	Dyspnea	2	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes			65
HP:0002795	HP:0002104	Apnea	2	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes			65
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes			65
HP:0002795	HP:0005943	Respiratory arrest	2	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		65
HP:0002795	HP:0010307	Stridor	2	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		65
HP:0002795	HP:0002094	Dyspnea	2	CHCHD10 CL E G H	400916	15559	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		11
HP:0002795	HP:0002878	Respiratory failure	2	CHCHD10 CL E G H	400916	15559	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		11
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	CHCHD10 CL E G H	400916	15559	ORPHA:457050	Autosomal dominant mitochondrial myopathy with exercise intolerance	HP:0040282 - Frequent		11
HP:0002795	HP:0002094	Dyspnea	2	CHMP2B CL E G H	25978	24537	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		42
HP:0002795	HP:0002878	Respiratory failure	2	CHMP2B CL E G H	25978	24537	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		42
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	CHRNA1 CL E G H	1134	1955	OMIM:601462	Myasthenic syndrome, congenital, 1A, slow-channel			74
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	CHRNA1 CL E G H	1134	1955	OMIM:608930	Myasthenic syndrome, congenital, 1B, fast-channel	.		74
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		74
HP:0002795	HP:0002094	Dyspnea	2	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			74
HP:0002795	HP:0002792	Reduced vital capacity	2	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		74
HP:0002795	HP:0002878	Respiratory failure	2	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		74
HP:0002795	HP:0002883	Hyperventilation	2	CHRNA2 CL E G H	1135	1956	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040283 - Occasional		188
HP:0002795	HP:0002883	Hyperventilation	2	CHRNA4 CL E G H	1137	1958	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040283 - Occasional		225
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		53
HP:0002795	HP:0002094	Dyspnea	2	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			53
HP:0002795	HP:0002792	Reduced vital capacity	2	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		53
HP:0002795	HP:0002878	Respiratory failure	2	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		53
HP:0002795	HP:0002883	Hyperventilation	2	CHRNB2 CL E G H	1141	1962	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040283 - Occasional		88
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		88
HP:0002795	HP:0002094	Dyspnea	2	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			88
HP:0002795	HP:0002792	Reduced vital capacity	2	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		88
HP:0002795	HP:0002878	Respiratory failure	2	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		88
HP:0002795	HP:0002094	Dyspnea	2	CHRNE CL E G H	1145	1966	OMIM:605809	Myasthenic syndrome, congenital, 4A, slow-channel			139
HP:0002795	HP:0002104	Apnea	2	CHRNE CL E G H	1145	1966	OMIM:605809	Myasthenic syndrome, congenital, 4A, slow-channel			139
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	CHRNE CL E G H	1145	1966	OMIM:605809	Myasthenic syndrome, congenital, 4A, slow-channel	.		139
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	CHRNE CL E G H	1145	1966	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency	.		139
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		139
HP:0002795	HP:0002094	Dyspnea	2	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			139
HP:0002795	HP:0002792	Reduced vital capacity	2	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		139
HP:0002795	HP:0002878	Respiratory failure	2	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		139
HP:0002795	HP:0002643	Neonatal respiratory distress	2	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040282 - Frequent		68
HP:0002795	HP:0002643	Neonatal respiratory distress	2	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant	.		68
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations			165
HP:0002795	HP:0002104	Apnea	2	CISD2 CL E G H	493856	24212	ORPHA:3463	Wolfram syndrome			3
HP:0002795	HP:0002094	Dyspnea	2	CITED2 CL E G H	10370	1987	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional		5
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	CITED2 CL E G H	10370	1987	ORPHA:99103	Atrial septal defect, ostium secundum type			5
HP:0002795	HP:0005317	Increased pulmonary vascular resistance	2	CITED2 CL E G H	10370	1987	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040284 - Very rare		5
HP:0002795	HP:0002094	Dyspnea	2	CITED2 CL E G H	10370	1987	ORPHA:99105	Atrial septal defect, sinus venosus type	HP:0040283 - Occasional		5
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	CITED2 CL E G H	10370	1987	ORPHA:99105	Atrial septal defect, sinus venosus type			5
HP:0002795	HP:0002883	Hyperventilation	2	CIZ1 CL E G H	25792	16744	ORPHA:420492	Adult-onset cervical dystonia, DYT23 type	HP:0040283 - Occasional		16
HP:0002795	HP:0032342	Reduced forced expiratory volume in one second	2	CLCA4 CL E G H	22802	2018	ORPHA:586	Cystic fibrosis
HP:0002795	HP:0002104	Apnea	2	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040283 - Occasional		102
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis			102
HP:0002795	HP:0002094	Dyspnea	2	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome			27
HP:0002795	HP:0002878	Respiratory failure	2	CLPB CL E G H	81570	30664	ORPHA:445038	3-methylglutaconic aciduria type 7	HP:0040283 - Occasional		38
HP:0002795	HP:0002094	Dyspnea	2	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia			38
HP:0002795	HP:0500165	Abnormal blood oxygen level	2	CNOT1 CL E G H	23019	7877	ORPHA:556955	Pancreatic agenesis-holoprosencephaly syndrome			2
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	CNTN1 CL E G H	1272	2171	OMIM:612540	Myopathy, congenital, compton-north	.		40
HP:0002795	HP:0002094	Dyspnea	2	CNTNAP1 CL E G H	8506	8011	ORPHA:2680	Hypomyelination neuropathy-arthrogryposis syndrome			9
HP:0002795	HP:0002883	Hyperventilation	2	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy			518
HP:0002795	HP:0002883	Hyperventilation	2	CNTNAP2 CL E G H	26047	13830	OMIM:610042	Pitt-Hopkins-Like syndrome 1	HP:0040284 - Very rare		518
HP:0002795	HP:0002789	Tachypnea	2	COA6 CL E G H	388753	18025	OMIM:616501	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 4; CEMCOX4			8
HP:0002795	HP:0002094	Dyspnea	2	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy	HP:0040282 - Frequent
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG			52
HP:0002795	HP:0002781	Upper airway obstruction	2	COL11A1 CL E G H	1301	2186	ORPHA:440354	Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome	HP:0040281 - Very frequent		215
HP:0002795	HP:0002791	Hypoventilation	2	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional		65
HP:0002795	HP:0012497	Reduced maximal expiratory pressure	2	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional		65
HP:0002795	HP:0002878	Respiratory failure	2	COL12A1 CL E G H	1303	2188	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040282 - Frequent		65
HP:0002795	HP:0002791	Hypoventilation	2	COL12A1 CL E G H	1303	2188	OMIM:616470	ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2; UCMD2			65
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		6
HP:0002795	HP:0002094	Dyspnea	2	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			6
HP:0002795	HP:0002792	Reduced vital capacity	2	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		6
HP:0002795	HP:0002878	Respiratory failure	2	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		6
HP:0002795	HP:0002094	Dyspnea	2	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes			6
HP:0002795	HP:0002104	Apnea	2	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes			6
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes			6
HP:0002795	HP:0005943	Respiratory arrest	2	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		6
HP:0002795	HP:0010307	Stridor	2	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		6
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	COL1A1 CL E G H	1277	2197	OMIM:259420	Osteogenesis imperfecta, type III			373
HP:0002795	HP:0002094	Dyspnea	2	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome	HP:0040283 - Occasional		243
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	COL1A2 CL E G H	1278	2198	OMIM:259420	Osteogenesis imperfecta, type III			243
HP:0002795	HP:0002094	Dyspnea	2	COL25A1 CL E G H	84570	18603	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita			3
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	COL25A1 CL E G H	84570	18603	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040283 - Occasional		3
HP:0002795	HP:0005943	Respiratory arrest	2	COL2A1 CL E G H	1280	2200	ORPHA:93296	Achondrogenesis type 2			284
HP:0002795	HP:0002094	Dyspnea	2	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia			284
HP:0002795	HP:0002094	Dyspnea	2	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type			284
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	COL2A1 CL E G H	1280	2200	OMIM:183900	Spondyloepiphyseal dysplasia congenita	.		284
HP:0002795	HP:0002094	Dyspnea	2	COL2A1 CL E G H	1280	2200	OMIM:183900	Spondyloepiphyseal dysplasia congenita			284
HP:0002795	HP:0002104	Apnea	2	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome			749
HP:0002795	HP:0002094	Dyspnea	2	COL4A5 CL E G H	1287	2207	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis	HP:0040283 - Occasional		678
HP:0002795	HP:0002094	Dyspnea	2	COL4A6 CL E G H	1288	2208	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis	HP:0040283 - Occasional		18
HP:0002795	HP:0002791	Hypoventilation	2	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional		442
HP:0002795	HP:0012497	Reduced maximal expiratory pressure	2	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional		442
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	COL6A1 CL E G H	1291	2211	OMIM:158810	Bethlem myopathy 1	.		442
HP:0002795	HP:0002878	Respiratory failure	2	COL6A1 CL E G H	1291	2211	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040282 - Frequent		442
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1	.		442
HP:0002795	HP:0002791	Hypoventilation	2	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1			442
HP:0002795	HP:0002791	Hypoventilation	2	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional		478
HP:0002795	HP:0012497	Reduced maximal expiratory pressure	2	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional		478
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	COL6A2 CL E G H	1292	2212	OMIM:158810	Bethlem myopathy 1	.		478
HP:0002795	HP:0002878	Respiratory failure	2	COL6A2 CL E G H	1292	2212	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040282 - Frequent		478
HP:0002795	HP:0032341	Reduced forced vital capacity	2	COL6A2 CL E G H	1292	2212	OMIM:255600	Myosclerosis, autosomal recessive	.		478
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1	.		478
HP:0002795	HP:0002791	Hypoventilation	2	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1			478
HP:0002795	HP:0002791	Hypoventilation	2	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional		702
HP:0002795	HP:0012497	Reduced maximal expiratory pressure	2	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional		702
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	COL6A3 CL E G H	1293	2213	OMIM:158810	Bethlem myopathy 1	.		702
HP:0002795	HP:0002878	Respiratory failure	2	COL6A3 CL E G H	1293	2213	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040282 - Frequent		702
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1	.		702
HP:0002795	HP:0002791	Hypoventilation	2	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1			702
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	COLQ CL E G H	8292	2226	OMIM:603034	Myasthenic syndrome, congenital, 5	.		90
HP:0002795	HP:0002094	Dyspnea	2	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes			90
HP:0002795	HP:0002104	Apnea	2	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes			90
HP:0002795	HP:0002643	Neonatal respiratory distress	2	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040283 - Occasional		90
HP:0002795	HP:0002791	Hypoventilation	2	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040283 - Occasional		90
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes			90
HP:0002795	HP:0006510	Chronic pulmonary obstruction	2	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		6
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	COPA CL E G H	1314	2230	OMIM:616414	AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE; AILJK			5
HP:0002795	HP:0002094	Dyspnea	2	COPA CL E G H	1314	2230	OMIM:616414	AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE; AILJK			5
HP:0002795	HP:0002789	Tachypnea	2	COPA CL E G H	1314	2230	OMIM:616414	AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE; AILJK			5
HP:0002795	HP:0045049	Abnormal DLCO	2	COPA CL E G H	1314	2230	OMIM:616414	AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE; AILJK			5
HP:0002795	HP:0002104	Apnea	2	COQ2 CL E G H	27235	25223	ORPHA:227510	Multiple system atrophy, cerebellar type			54
HP:0002795	HP:0010307	Stridor	2	COQ2 CL E G H	27235	25223	ORPHA:227510	Multiple system atrophy, cerebellar type	HP:0040282 - Frequent		54
HP:0002795	HP:0002104	Apnea	2	COQ2 CL E G H	27235	25223	ORPHA:98933	Multiple system atrophy, parkinsonian type			54
HP:0002795	HP:0010307	Stridor	2	COQ2 CL E G H	27235	25223	ORPHA:98933	Multiple system atrophy, parkinsonian type	HP:0040282 - Frequent		54
HP:0002795	HP:0002094	Dyspnea	2	COQ7 CL E G H	10229	2244	OMIM:616733	Coenzyme Q10 deficiency, primary, 8			1
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	COX1 CL E G H	4512	7419	ORPHA:550	MELAS
HP:0002795	HP:0002643	Neonatal respiratory distress	2	COX14 CL E G H	84987	28216	OMIM:619053	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10; MC4DN10			4
HP:0002795	HP:0002104	Apnea	2	COX15 CL E G H	1355	2263	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		104
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	COX2 CL E G H	4513	7421	ORPHA:550	MELAS
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	COX3 CL E G H	4514	7422	ORPHA:550	MELAS
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	COX5A CL E G H	9377	2267	OMIM:619064	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0002795	HP:0002643	Neonatal respiratory distress	2	COX6A2 CL E G H	1339	2279	OMIM:619062	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 18; MC4DN18
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	COX6B1 CL E G H	1340	2280	OMIM:619051	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN7			10
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	COX7B CL E G H	1349	2291	OMIM:300887	Linear skin defects with multiple congenital anomalies 2			6
HP:0002795	HP:0002094	Dyspnea	2	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional		6
HP:0002795	HP:0002878	Respiratory failure	2	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional		6
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	COX8A CL E G H	1351	2294	OMIM:619059	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15; MC4DN15			1
HP:0002795	HP:0002104	Apnea	2	CPLANE1 CL E G H	65250	25801	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent
HP:0002795	HP:0002789	Tachypnea	2	CPLANE1 CL E G H	65250	25801	ORPHA:475	Joubert syndrome
HP:0002795	HP:0002883	Hyperventilation	2	CPLANE1 CL E G H	65250	25801	OMIM:614615	Joubert syndrome 17	.
HP:0002795	HP:0002104	Apnea	2	CPLANE1 CL E G H	65250	25801	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional
HP:0002795	HP:0002789	Tachypnea	2	CPLANE1 CL E G H	65250	25801	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0002795	HP:0002203	Respiratory paralysis	2	CPOX CL E G H	1371	2321	OMIM:121300	Coproporphyria	.		72
HP:0002795	HP:0002643	Neonatal respiratory distress	2	CPT2 CL E G H	1376	2330	ORPHA:228308	Carnitine palmitoyl transferase II deficiency, neonatal form	HP:0040282 - Frequent		101
HP:0002795	HP:0005943	Respiratory arrest	2	CPT2 CL E G H	1376	2330	OMIM:600649	Carnitine palmitoyltransferase II deficiency, infantile			101
HP:0002795	HP:0002104	Apnea	2	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	.		101
HP:0002795	HP:0002643	Neonatal respiratory distress	2	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal			101
HP:0002795	HP:0002878	Respiratory failure	2	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	.		101
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	CR2 CL E G H	1380	2336	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional		10
HP:0002795	HP:0002094	Dyspnea	2	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0002795	HP:0002104	Apnea	2	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0002795	HP:0002104	Apnea	2	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion			291
HP:0002795	HP:0002104	Apnea	2	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations			291
HP:0002795	HP:0002883	Hyperventilation	2	CRH CL E G H	1392	2355	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040283 - Occasional		1
HP:0002795	HP:0002094	Dyspnea	2	CRLF1 CL E G H	9244	2364	OMIM:272430	Crisponi/cold-induced sweating syndrome 1	.		24
HP:0002795	HP:0030828	Wheezing	2	CRLF1 CL E G H	9244	2364	ORPHA:930	Idiopathic achalasia	HP:0040283 - Occasional		24
HP:0002795	HP:0002792	Reduced vital capacity	2	CRPPA CL E G H	729920	37276	ORPHA:352479	ISPD-related limb-girdle muscular dystrophy R20	HP:0040282 - Frequent
HP:0002795	HP:0032341	Reduced forced vital capacity	2	CRPPA CL E G H	729920	37276	OMIM:616052	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7	.
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	CRYAB CL E G H	1410	2389	ORPHA:399058	Alpha-B crystallin-related late-onset myopathy	HP:0040283 - Occasional		46
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	CRYAB CL E G H	1410	2389	OMIM:608810	Myopathy, myofibrillar, 2, mfm2	.		46
HP:0002795	HP:0002104	Apnea	2	CRYAB CL E G H	1410	2389	OMIM:613869	Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related	.		46
HP:0002795	HP:0002878	Respiratory failure	2	CRYAB CL E G H	1410	2389	OMIM:613869	Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related	.		46
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	CSF2RA CL E G H	1438	2435	ORPHA:264675	Hereditary pulmonary alveolar proteinosis	HP:0040282 - Frequent		15
HP:0002795	HP:0002094	Dyspnea	2	CSF2RA CL E G H	1438	2435	ORPHA:264675	Hereditary pulmonary alveolar proteinosis			15
HP:0002795	HP:0002789	Tachypnea	2	CSF2RA CL E G H	1438	2435	ORPHA:264675	Hereditary pulmonary alveolar proteinosis	HP:0040283 - Occasional		15
HP:0002795	HP:0004887	Respiratory failure requiring assisted ventilation	2	CSF2RA CL E G H	1438	2435	ORPHA:264675	Hereditary pulmonary alveolar proteinosis	HP:0040282 - Frequent		15
HP:0002795	HP:0500165	Abnormal blood oxygen level	2	CSF2RA CL E G H	1438	2435	ORPHA:264675	Hereditary pulmonary alveolar proteinosis			15
HP:0002795	HP:0030830	Crackles	2	CSF2RA CL E G H	1438	2435	ORPHA:264675	Hereditary pulmonary alveolar proteinosis	HP:0040283 - Occasional		15
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	CSF2RA CL E G H	1438	2435	OMIM:300770	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4; SMDP4			15
HP:0002795	HP:0002789	Tachypnea	2	CSF2RA CL E G H	1438	2435	OMIM:300770	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4; SMDP4			15
HP:0002795	HP:0045049	Abnormal DLCO	2	CSF2RA CL E G H	1438	2435	OMIM:300770	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4; SMDP4			15
HP:0002795	HP:0032341	Reduced forced vital capacity	2	CSF2RA CL E G H	1438	2435	OMIM:300770	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4; SMDP4			15
HP:0002795	HP:0032342	Reduced forced expiratory volume in one second	2	CSF2RA CL E G H	1438	2435	OMIM:300770	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4; SMDP4			15
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	CSF2RB CL E G H	1439	2436	ORPHA:264675	Hereditary pulmonary alveolar proteinosis	HP:0040282 - Frequent		17
HP:0002795	HP:0002094	Dyspnea	2	CSF2RB CL E G H	1439	2436	ORPHA:264675	Hereditary pulmonary alveolar proteinosis			17
HP:0002795	HP:0002789	Tachypnea	2	CSF2RB CL E G H	1439	2436	ORPHA:264675	Hereditary pulmonary alveolar proteinosis	HP:0040283 - Occasional		17
HP:0002795	HP:0004887	Respiratory failure requiring assisted ventilation	2	CSF2RB CL E G H	1439	2436	ORPHA:264675	Hereditary pulmonary alveolar proteinosis	HP:0040282 - Frequent		17
HP:0002795	HP:0500165	Abnormal blood oxygen level	2	CSF2RB CL E G H	1439	2436	ORPHA:264675	Hereditary pulmonary alveolar proteinosis			17
HP:0002795	HP:0030830	Crackles	2	CSF2RB CL E G H	1439	2436	ORPHA:264675	Hereditary pulmonary alveolar proteinosis	HP:0040283 - Occasional		17
HP:0002795	HP:0002094	Dyspnea	2	CSF2RB CL E G H	1439	2436	OMIM:614370	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5; SMDP5			17
HP:0002795	HP:0002643	Neonatal respiratory distress	2	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0002795	HP:0002104	Apnea	2	CSPP1 CL E G H	79848	26193	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		57
HP:0002795	HP:0002789	Tachypnea	2	CSPP1 CL E G H	79848	26193	ORPHA:475	Joubert syndrome			57
HP:0002795	HP:0002094	Dyspnea	2	CSPP1 CL E G H	79848	26193	OMIM:615636	Joubert syndrome 21	.		57
HP:0002795	HP:0002104	Apnea	2	CSPP1 CL E G H	79848	26193	OMIM:615636	Joubert syndrome 21	.		57
HP:0002795	HP:0002104	Apnea	2	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional		57
HP:0002795	HP:0002789	Tachypnea	2	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040282 - Frequent		57
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder			20
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional		10
HP:0002795	HP:0006510	Chronic pulmonary obstruction	2	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis	HP:0040282 - Frequent		10
HP:0002795	HP:0002104	Apnea	2	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma			88
HP:0002795	HP:0002104	Apnea	2	CTSD CL E G H	1509	2529	OMIM:610127	Ceroid lipofuscinosis, neuronal, 10	.		159
HP:0002795	HP:0002878	Respiratory failure	2	CTSD CL E G H	1509	2529	OMIM:610127	Ceroid lipofuscinosis, neuronal, 10	.		159
HP:0002795	HP:0002104	Apnea	2	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis			39
HP:0002795	HP:0010307	Stridor	2	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis			39
HP:0002795	HP:0002643	Neonatal respiratory distress	2	CUL7 CL E G H	9820	21024	OMIM:273750	3-M syndrome 1	.		127
HP:0002795	HP:0002094	Dyspnea	2	CYB5A CL E G H	1528	2570	ORPHA:621	Hereditary methemoglobinemia			2
HP:0002795	HP:0002094	Dyspnea	2	CYB5R3 CL E G H	1727	2873	ORPHA:621	Hereditary methemoglobinemia			24
HP:0002795	HP:0002094	Dyspnea	2	CYB5R3 CL E G H	1727	2873	OMIM:250800	Methemoglobinemia due to deficiency of methemoglobin reductase			24
HP:0002795	HP:0006510	Chronic pulmonary obstruction	2	CYBA CL E G H	1535	2577	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent		27
HP:0002795	HP:0006510	Chronic pulmonary obstruction	2	CYBB CL E G H	1536	2578	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent		111
HP:0002795	HP:0006510	Chronic pulmonary obstruction	2	CYBC1 CL E G H	79415	28672	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent
HP:0002795	HP:0002789	Tachypnea	2	CYTB CL E G H	4519	7427	ORPHA:137675	Histiocytoid cardiomyopathy	HP:0040283 - Occasional
HP:0002795	HP:0002104	Apnea	2	D2HGDH CL E G H	728294	28358	OMIM:600721	D-2-Hydroxyglutaric aciduria 1	.		102
HP:0002795	HP:0010307	Stridor	2	D2HGDH CL E G H	728294	28358	OMIM:600721	D-2-Hydroxyglutaric aciduria 1			102
HP:0002795	HP:0002878	Respiratory failure	2	DAG1 CL E G H	1605	2666	OMIM:616538	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9	.		108
HP:0002795	HP:0002094	Dyspnea	2	DAO CL E G H	1610	2671	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0002795	HP:0002878	Respiratory failure	2	DAO CL E G H	1610	2671	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0002795	HP:0025428	Bronchospasm	2	DAXX CL E G H	1616	2681	ORPHA:100075	Neuroendocrine tumor of stomach	HP:0040284 - Very rare
HP:0002795	HP:0002094	Dyspnea	2	DBH CL E G H	1621	2689	ORPHA:230	Dopamine beta-hydroxylase deficiency	HP:0040283 - Occasional		80
HP:0002795	HP:0002094	Dyspnea	2	DCTN1 CL E G H	1639	2711	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		86
HP:0002795	HP:0002878	Respiratory failure	2	DCTN1 CL E G H	1639	2711	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		86
HP:0002795	HP:0002104	Apnea	2	DCTN1 CL E G H	1639	2711	OMIM:105400	Amyotrophic lateral sclerosis 1			86
HP:0002795	HP:0002791	Hypoventilation	2	DCTN1 CL E G H	1639	2711	ORPHA:178509	Perry syndrome			86
HP:0002795	HP:0002791	Hypoventilation	2	DCTN1 CL E G H	1639	2711	OMIM:168605	Perry syndrome			86
HP:0002795	HP:0005943	Respiratory arrest	2	DCTN1 CL E G H	1639	2711	OMIM:168605	Perry syndrome			86
HP:0002795	HP:0032342	Reduced forced expiratory volume in one second	2	DCTN4 CL E G H	51164	15518	ORPHA:586	Cystic fibrosis
HP:0002795	HP:0002104	Apnea	2	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0002795	HP:0002104	Apnea	2	DDC CL E G H	1644	2719	OMIM:608643	Aromatic L-amino acid decarboxylase deficiency			43
HP:0002795	HP:0005943	Respiratory arrest	2	DDC CL E G H	1644	2719	OMIM:608643	Aromatic L-amino acid decarboxylase deficiency			43
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type	.		45
HP:0002795	HP:0002781	Upper airway obstruction	2	DDRGK1 CL E G H	65992	16110	ORPHA:93352	Spondyloepimetaphyseal dysplasia, Shohat type	HP:0040283 - Occasional
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0002795	HP:0002883	Hyperventilation	2	DEPDC5 CL E G H	9681	18423	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040283 - Occasional		172
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	DES CL E G H	1674	2770	ORPHA:98909	Desminopathy	HP:0040282 - Frequent		263
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	DES CL E G H	1674	2770	OMIM:601419	Myopathy, myofibrillar, 1			263
HP:0002795	HP:0002094	Dyspnea	2	DHX16 CL E G H	8449	2739	OMIM:618733	NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0002795	HP:0002094	Dyspnea	2	DISC1 CL E G H	27185	2888	ORPHA:171703	Microcephaly-polymicrogyria-corpus callosum agenesis syndrome			2
HP:0002795	HP:0002104	Apnea	2	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly			22
HP:0002795	HP:0002104	Apnea	2	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly			22
HP:0002795	HP:0002104	Apnea	2	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			22
HP:0002795	HP:0002104	Apnea	2	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly			22
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked	.		65
HP:0002795	HP:0002104	Apnea	2	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I
HP:0002795	HP:0002878	Respiratory failure	2	DLK1 CL E G H	8788	2907	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040282 - Frequent		1
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional		1
HP:0002795	HP:0002878	Respiratory failure	2	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040282 - Frequent		1
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0002795	HP:0002104	Apnea	2	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly			3
HP:0002795	HP:0002104	Apnea	2	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly			3
HP:0002795	HP:0002104	Apnea	2	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			3
HP:0002795	HP:0002104	Apnea	2	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly			3
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome			9
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	DMD CL E G H	1756	2928	OMIM:310200	Duchenne muscular dystrophy			1496
HP:0002795	HP:0002104	Apnea	2	DMD CL E G H	1756	2928	OMIM:310200	Duchenne muscular dystrophy			1496
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	DMD CL E G H	1756	2928	OMIM:310200	Duchenne muscular dystrophy			1496
HP:0002795	HP:0002791	Hypoventilation	2	DMD CL E G H	1756	2928	OMIM:310200	Duchenne muscular dystrophy	.		1496
HP:0002795	HP:0002878	Respiratory failure	2	DMD CL E G H	1756	2928	OMIM:310200	Duchenne muscular dystrophy	.		1496
HP:0002795	HP:0002643	Neonatal respiratory distress	2	DMPK CL E G H	1760	2933	ORPHA:589821	Congenital-onset Steinert myotonic dystrophy			152
HP:0002795	HP:0002094	Dyspnea	2	DMPK CL E G H	1760	2933	OMIM:160900	Myotonic dystrophy 1			152
HP:0002795	HP:0002094	Dyspnea	2	DNA2 CL E G H	1763	2939	ORPHA:352470	DNA2-related mitochondrial DNA deletion syndrome			41
HP:0002795	HP:0002104	Apnea	2	DNA2 CL E G H	1763	2939	ORPHA:352470	DNA2-related mitochondrial DNA deletion syndrome			41
HP:0002795	HP:0002094	Dyspnea	2	DNA2 CL E G H	1763	2939	OMIM:615156	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 6			41
HP:0002795	HP:0002104	Apnea	2	DNA2 CL E G H	1763	2939	OMIM:615156	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 6			41
HP:0002795	HP:0012262	Abnormal ciliary motility	2	DNAAF1 CL E G H	123872	30539	OMIM:613193	Ciliary dyskinesia, primary, 13			116
HP:0002795	HP:0002643	Neonatal respiratory distress	2	DNAAF1 CL E G H	123872	30539	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		116
HP:0002795	HP:0002878	Respiratory failure	2	DNAAF1 CL E G H	123872	30539	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		116
HP:0002795	HP:0030828	Wheezing	2	DNAAF1 CL E G H	123872	30539	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		116
HP:0002795	HP:0031245	Productive cough	2	DNAAF1 CL E G H	123872	30539	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		116
HP:0002795	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	2	DNAAF11 CL E G H	23639	16725	OMIM:614935	Ciliary dyskinesia, primary, 19	.
HP:0002795	HP:0012262	Abnormal ciliary motility	2	DNAAF11 CL E G H	23639	16725	OMIM:614935	Ciliary dyskinesia, primary, 19
HP:0002795	HP:0002643	Neonatal respiratory distress	2	DNAAF11 CL E G H	23639	16725	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0002795	HP:0002878	Respiratory failure	2	DNAAF11 CL E G H	23639	16725	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0002795	HP:0030828	Wheezing	2	DNAAF11 CL E G H	23639	16725	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0002795	HP:0031245	Productive cough	2	DNAAF11 CL E G H	23639	16725	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0002795	HP:0012262	Abnormal ciliary motility	2	DNAAF2 CL E G H	55172	20188	OMIM:612518	CILIARY DYSKINESIA, PRIMARY, 10; CILD10			78
HP:0002795	HP:0002643	Neonatal respiratory distress	2	DNAAF2 CL E G H	55172	20188	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		78
HP:0002795	HP:0002878	Respiratory failure	2	DNAAF2 CL E G H	55172	20188	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		78
HP:0002795	HP:0030828	Wheezing	2	DNAAF2 CL E G H	55172	20188	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		78
HP:0002795	HP:0031245	Productive cough	2	DNAAF2 CL E G H	55172	20188	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		78
HP:0002795	HP:0002094	Dyspnea	2	DNAAF3 CL E G H	352909	30492	OMIM:606763	Ciliary dyskinesia, primary, 2			63
HP:0002795	HP:0012262	Abnormal ciliary motility	2	DNAAF3 CL E G H	352909	30492	OMIM:606763	Ciliary dyskinesia, primary, 2			63
HP:0002795	HP:0002643	Neonatal respiratory distress	2	DNAAF3 CL E G H	352909	30492	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		63
HP:0002795	HP:0002878	Respiratory failure	2	DNAAF3 CL E G H	352909	30492	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		63
HP:0002795	HP:0030828	Wheezing	2	DNAAF3 CL E G H	352909	30492	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		63
HP:0002795	HP:0031245	Productive cough	2	DNAAF3 CL E G H	352909	30492	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		63
HP:0002795	HP:0006510	Chronic pulmonary obstruction	2	DNAAF4 CL E G H	161582	21493	OMIM:615482	Ciliary dyskinesia, primary, 25	.		27
HP:0002795	HP:0012262	Abnormal ciliary motility	2	DNAAF4 CL E G H	161582	21493	OMIM:615482	Ciliary dyskinesia, primary, 25			27
HP:0002795	HP:0002643	Neonatal respiratory distress	2	DNAAF4 CL E G H	161582	21493	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		27
HP:0002795	HP:0002878	Respiratory failure	2	DNAAF4 CL E G H	161582	21493	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		27
HP:0002795	HP:0030828	Wheezing	2	DNAAF4 CL E G H	161582	21493	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		27
HP:0002795	HP:0031245	Productive cough	2	DNAAF4 CL E G H	161582	21493	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		27
HP:0002795	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	2	DNAAF5 CL E G H	54919	26013	OMIM:614874	Ciliary dyskinesia, primary, 18	.		62
HP:0002795	HP:0012262	Abnormal ciliary motility	2	DNAAF5 CL E G H	54919	26013	OMIM:614874	Ciliary dyskinesia, primary, 18	.		62
HP:0002795	HP:0002643	Neonatal respiratory distress	2	DNAAF5 CL E G H	54919	26013	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		62
HP:0002795	HP:0002878	Respiratory failure	2	DNAAF5 CL E G H	54919	26013	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		62
HP:0002795	HP:0030828	Wheezing	2	DNAAF5 CL E G H	54919	26013	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		62
HP:0002795	HP:0031245	Productive cough	2	DNAAF5 CL E G H	54919	26013	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		62
HP:0002795	HP:0002643	Neonatal respiratory distress	2	DNAAF6 CL E G H	139212	28570	OMIM:300991	Ciliary dyskinesia, primary, 36, X-linked	.
HP:0002795	HP:0002643	Neonatal respiratory distress	2	DNAAF6 CL E G H	139212	28570	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0002795	HP:0002878	Respiratory failure	2	DNAAF6 CL E G H	139212	28570	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0002795	HP:0030828	Wheezing	2	DNAAF6 CL E G H	139212	28570	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0002795	HP:0031245	Productive cough	2	DNAAF6 CL E G H	139212	28570	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0002795	HP:0030828	Wheezing	2	DNAH1 CL E G H	25981	2940	OMIM:617577	Ciliary dyskinesia, primary, 37	.		21
HP:0002795	HP:0031417	Rhinorrhea	2	DNAH1 CL E G H	25981	2940	OMIM:617577	Ciliary dyskinesia, primary, 37	.		21
HP:0002795	HP:0002643	Neonatal respiratory distress	2	DNAH1 CL E G H	25981	2940	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		21
HP:0002795	HP:0002878	Respiratory failure	2	DNAH1 CL E G H	25981	2940	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		21
HP:0002795	HP:0030828	Wheezing	2	DNAH1 CL E G H	25981	2940	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		21
HP:0002795	HP:0031245	Productive cough	2	DNAH1 CL E G H	25981	2940	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		21
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	DNAH11 CL E G H	8701	2942	OMIM:611884	CILIARY DYSKINESIA, PRIMARY, 7; CILD7			542
HP:0002795	HP:0012262	Abnormal ciliary motility	2	DNAH11 CL E G H	8701	2942	OMIM:611884	CILIARY DYSKINESIA, PRIMARY, 7; CILD7			542
HP:0002795	HP:0030877	Reduced FEV1/FVC ratio	2	DNAH11 CL E G H	8701	2942	OMIM:611884	CILIARY DYSKINESIA, PRIMARY, 7; CILD7			542
HP:0002795	HP:0002643	Neonatal respiratory distress	2	DNAH11 CL E G H	8701	2942	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		542
HP:0002795	HP:0002878	Respiratory failure	2	DNAH11 CL E G H	8701	2942	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		542
HP:0002795	HP:0030828	Wheezing	2	DNAH11 CL E G H	8701	2942	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		542
HP:0002795	HP:0031245	Productive cough	2	DNAH11 CL E G H	8701	2942	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		542
HP:0002795	HP:0002643	Neonatal respiratory distress	2	DNAH5 CL E G H	1767	2950	OMIM:608644	CILIARY DYSKINESIA, PRIMARY, 3; CILD3			527
HP:0002795	HP:0012262	Abnormal ciliary motility	2	DNAH5 CL E G H	1767	2950	OMIM:608644	CILIARY DYSKINESIA, PRIMARY, 3; CILD3			527
HP:0002795	HP:0002643	Neonatal respiratory distress	2	DNAH5 CL E G H	1767	2950	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		527
HP:0002795	HP:0002878	Respiratory failure	2	DNAH5 CL E G H	1767	2950	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		527
HP:0002795	HP:0030828	Wheezing	2	DNAH5 CL E G H	1767	2950	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		527
HP:0002795	HP:0031245	Productive cough	2	DNAH5 CL E G H	1767	2950	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		527
HP:0002795	HP:0033158	Reduced respiratory ciliary beating frequency	2	DNAH9 CL E G H	1770	2953	OMIM:618300	Ciliary dyskinesia, primary, 40			18
HP:0002795	HP:0032342	Reduced forced expiratory volume in one second	2	DNAH9 CL E G H	1770	2953	OMIM:618300	Ciliary dyskinesia, primary, 40			18
HP:0002795	HP:0002643	Neonatal respiratory distress	2	DNAH9 CL E G H	1770	2953	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		18
HP:0002795	HP:0002878	Respiratory failure	2	DNAH9 CL E G H	1770	2953	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		18
HP:0002795	HP:0030828	Wheezing	2	DNAH9 CL E G H	1770	2953	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		18
HP:0002795	HP:0031245	Productive cough	2	DNAH9 CL E G H	1770	2953	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		18
HP:0002795	HP:0012262	Abnormal ciliary motility	2	DNAI1 CL E G H	27019	2954	OMIM:244400	Ciliary dyskinesia, primary, 1			73
HP:0002795	HP:0002643	Neonatal respiratory distress	2	DNAI1 CL E G H	27019	2954	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		73
HP:0002795	HP:0002878	Respiratory failure	2	DNAI1 CL E G H	27019	2954	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		73
HP:0002795	HP:0030828	Wheezing	2	DNAI1 CL E G H	27019	2954	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		73
HP:0002795	HP:0031245	Productive cough	2	DNAI1 CL E G H	27019	2954	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		73
HP:0002795	HP:0002643	Neonatal respiratory distress	2	DNAI2 CL E G H	64446	18744	OMIM:612444	CILIARY DYSKINESIA, PRIMARY, 9; CILD9			104
HP:0002795	HP:0012262	Abnormal ciliary motility	2	DNAI2 CL E G H	64446	18744	OMIM:612444	CILIARY DYSKINESIA, PRIMARY, 9; CILD9			104
HP:0002795	HP:0002643	Neonatal respiratory distress	2	DNAI2 CL E G H	64446	18744	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		104
HP:0002795	HP:0002878	Respiratory failure	2	DNAI2 CL E G H	64446	18744	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		104
HP:0002795	HP:0030828	Wheezing	2	DNAI2 CL E G H	64446	18744	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		104
HP:0002795	HP:0031245	Productive cough	2	DNAI2 CL E G H	64446	18744	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		104
HP:0002795	HP:0033158	Reduced respiratory ciliary beating frequency	2	DNAJB13 CL E G H	374407	30718	OMIM:617091	CILIARY DYSKINESIA, PRIMARY, 34; CILD34			2
HP:0002795	HP:0002643	Neonatal respiratory distress	2	DNAJB13 CL E G H	374407	30718	OMIM:617091	CILIARY DYSKINESIA, PRIMARY, 34; CILD34			2
HP:0002795	HP:0002643	Neonatal respiratory distress	2	DNAJB13 CL E G H	374407	30718	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		2
HP:0002795	HP:0002878	Respiratory failure	2	DNAJB13 CL E G H	374407	30718	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		2
HP:0002795	HP:0030828	Wheezing	2	DNAJB13 CL E G H	374407	30718	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		2
HP:0002795	HP:0031245	Productive cough	2	DNAJB13 CL E G H	374407	30718	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		2
HP:0002795	HP:0002094	Dyspnea	2	DNAJB6 CL E G H	10049	14888	OMIM:603511	Muscular dystrophy, limb-girdle, type 1E	HP:0040283 - Occasional		103
HP:0002795	HP:0002094	Dyspnea	2	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1			5
HP:0002795	HP:0002643	Neonatal respiratory distress	2	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1	.		5
HP:0002795	HP:0012262	Abnormal ciliary motility	2	DNAL1 CL E G H	83544	23247	OMIM:614017	CILIARY DYSKINESIA, PRIMARY, 16; CILD16			167
HP:0002795	HP:0002643	Neonatal respiratory distress	2	DNAL1 CL E G H	83544	23247	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		167
HP:0002795	HP:0002878	Respiratory failure	2	DNAL1 CL E G H	83544	23247	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		167
HP:0002795	HP:0030828	Wheezing	2	DNAL1 CL E G H	83544	23247	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		167
HP:0002795	HP:0031245	Productive cough	2	DNAL1 CL E G H	83544	23247	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		167
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	DNASE1L3 CL E G H	1776	2959	ORPHA:36412	Hypocomplementemic urticarial vasculitis	HP:0040283 - Occasional		3
HP:0002795	HP:0002094	Dyspnea	2	DNASE1L3 CL E G H	1776	2959	ORPHA:36412	Hypocomplementemic urticarial vasculitis	HP:0040282 - Frequent		3
HP:0002795	HP:0002643	Neonatal respiratory distress	2	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1			94
HP:0002795	HP:0002643	Neonatal respiratory distress	2	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy			167
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040283 - Occasional		167
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome			18
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	DOK7 CL E G H	285489	26594	OMIM:254300	Myasthenia, limb-girdle, familial	.		91
HP:0002795	HP:0002792	Reduced vital capacity	2	DOK7 CL E G H	285489	26594	OMIM:254300	Myasthenia, limb-girdle, familial			91
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		91
HP:0002795	HP:0002094	Dyspnea	2	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			91
HP:0002795	HP:0002792	Reduced vital capacity	2	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		91
HP:0002795	HP:0002878	Respiratory failure	2	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		91
HP:0002795	HP:0002104	Apnea	2	DPAGT1 CL E G H	1798	2995	OMIM:608093	Congenital disorder of glycosylation, type Ij	HP:0040283 - Occasional		38
HP:0002795	HP:0002104	Apnea	2	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome			3
HP:0002795	HP:0002104	Apnea	2	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0002795	HP:0002094	Dyspnea	2	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE			27
HP:0002795	HP:0002094	Dyspnea	2	DPM2 CL E G H	8818	3006	OMIM:615042	Congenital disorder of glycosylation, type Iu			26
HP:0002795	HP:0002643	Neonatal respiratory distress	2	DPM2 CL E G H	8818	3006	OMIM:615042	Congenital disorder of glycosylation, type Iu			26
HP:0002795	HP:0002094	Dyspnea	2	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy			26
HP:0002795	HP:0002094	Dyspnea	2	DPP9 CL E G H	91039	18648	ORPHA:2032	Idiopathic pulmonary fibrosis
HP:0002795	HP:0030830	Crackles	2	DPP9 CL E G H	91039	18648	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent
HP:0002795	HP:0004887	Respiratory failure requiring assisted ventilation	2	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency	HP:0040283 - Occasional		144
HP:0002795	HP:0002643	Neonatal respiratory distress	2	DRC1 CL E G H	92749	24245	OMIM:615294	CILIARY DYSKINESIA, PRIMARY, 21; CILD21			44
HP:0002795	HP:0012262	Abnormal ciliary motility	2	DRC1 CL E G H	92749	24245	OMIM:615294	CILIARY DYSKINESIA, PRIMARY, 21; CILD21			44
HP:0002795	HP:0002643	Neonatal respiratory distress	2	DRC1 CL E G H	92749	24245	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		44
HP:0002795	HP:0002878	Respiratory failure	2	DRC1 CL E G H	92749	24245	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		44
HP:0002795	HP:0030828	Wheezing	2	DRC1 CL E G H	92749	24245	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		44
HP:0002795	HP:0031245	Productive cough	2	DRC1 CL E G H	92749	24245	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		44
HP:0002795	HP:0002094	Dyspnea	2	DSC2 CL E G H	1824	3036	OMIM:610476	Arrhythmogenic right ventricular dysplasia, familial, 11	.		268
HP:0002795	HP:0002094	Dyspnea	2	DSG2 CL E G H	1829	3049	OMIM:612877	CARDIOMYOPATHY, DILATED, 1BB; CMD1BB			358
HP:0002795	HP:0002094	Dyspnea	2	DSP CL E G H	1832	3052	ORPHA:2032	Idiopathic pulmonary fibrosis			747
HP:0002795	HP:0030830	Crackles	2	DSP CL E G H	1832	3052	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent		747
HP:0002795	HP:0002878	Respiratory failure	2	DSP CL E G H	1832	3052	ORPHA:158687	Lethal acantholytic erosive disorder	HP:0040282 - Frequent		747
HP:0002795	HP:0002104	Apnea	2	DST CL E G H	667	1090	OMIM:614653	Neuropathy, hereditary sensory and autonomic, type VI	.		108
HP:0002795	HP:0002643	Neonatal respiratory distress	2	DST CL E G H	667	1090	OMIM:614653	Neuropathy, hereditary sensory and autonomic, type VI			108
HP:0002795	HP:0010307	Stridor	2	DST CL E G H	667	1090	OMIM:614653	Neuropathy, hereditary sensory and autonomic, type VI			108
HP:0002795	HP:0002878	Respiratory failure	2	DTYMK CL E G H	1841	3061	OMIM:619847
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease	HP:0040283 - Occasional		65
HP:0002795	HP:0002094	Dyspnea	2	DYNC2LI1 CL E G H	51626	24595	OMIM:617088	Short-rib thoracic dysplasia 15 with polydactyly			7
HP:0002795	HP:0002791	Hypoventilation	2	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040283 - Occasional		4
HP:0002795	HP:0002878	Respiratory failure	2	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040282 - Frequent		4
HP:0002795	HP:0002104	Apnea	2	ECHS1 CL E G H	1892	3151	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		33
HP:0002795	HP:0002104	Apnea	2	ECHS1 CL E G H	1892	3151	OMIM:616277	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency	.		33
HP:0002795	HP:0002878	Respiratory failure	2	ECHS1 CL E G H	1892	3151	OMIM:616277	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency			33
HP:0002795	HP:0002094	Dyspnea	2	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked			115
HP:0002795	HP:0002094	Dyspnea	2	EDN1 CL E G H	1906	3176	ORPHA:137888	Auriculocondylar syndrome			6
HP:0002795	HP:0002104	Apnea	2	EDN1 CL E G H	1906	3176	ORPHA:137888	Auriculocondylar syndrome			6
HP:0002795	HP:0025267	Snoring	2	EDN1 CL E G H	1906	3176	ORPHA:137888	Auriculocondylar syndrome	HP:0040282 - Frequent		6
HP:0002795	HP:0032342	Reduced forced expiratory volume in one second	2	EDNRA CL E G H	1909	3179	ORPHA:586	Cystic fibrosis			3
HP:0002795	HP:0002094	Dyspnea	2	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type			48
HP:0002795	HP:0002094	Dyspnea	2	EIF2AK4 CL E G H	440275	19687	ORPHA:199241	Pulmonary capillary hemangiomatosis	HP:0040282 - Frequent		40
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	EIF2AK4 CL E G H	440275	19687	ORPHA:199241	Pulmonary capillary hemangiomatosis	HP:0040282 - Frequent		40
HP:0002795	HP:0500165	Abnormal blood oxygen level	2	EIF2AK4 CL E G H	440275	19687	ORPHA:199241	Pulmonary capillary hemangiomatosis			40
HP:0002795	HP:0045049	Abnormal DLCO	2	EIF2AK4 CL E G H	440275	19687	ORPHA:199241	Pulmonary capillary hemangiomatosis			40
HP:0002795	HP:0002094	Dyspnea	2	EIF2AK4 CL E G H	440275	19687	OMIM:234810	PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD2			40
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	EIF2AK4 CL E G H	440275	19687	OMIM:234810	PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD2			40
HP:0002795	HP:0045049	Abnormal DLCO	2	EIF2AK4 CL E G H	440275	19687	OMIM:234810	PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD2			40
HP:0002795	HP:0002094	Dyspnea	2	ELN CL E G H	2006	3327	OMIM:123700	Cutis laxa, autosomal dominant 1			172
HP:0002795	HP:0002094	Dyspnea	2	ELN CL E G H	2006	3327	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			172
HP:0002795	HP:0005947	Decreased sensitivity to hypoxemia	2	ELP1 CL E G H	8518	5959	OMIM:223900	Neuropathy, hereditary sensory and autonomic, type III	.		133
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040284 - Very rare		107
HP:0002795	HP:0002204	Pulmonary embolism	2	ENG CL E G H	2022	3349	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional		186
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	ENG CL E G H	2022	3349	ORPHA:774	Hereditary hemorrhagic telangiectasia			186
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1			186
HP:0002795	HP:0002094	Dyspnea	2	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1			186
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1			186
HP:0002795	HP:0500165	Abnormal blood oxygen level	2	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1			186
HP:0002795	HP:0030877	Reduced FEV1/FVC ratio	2	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1			186
HP:0002795	HP:0002643	Neonatal respiratory distress	2	ENPP1 CL E G H	5167	3356	OMIM:208000	Arterial calcification, generalized, of infancy, 1			151
HP:0002795	HP:0002094	Dyspnea	2	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy			151
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy			151
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome			4
HP:0002795	HP:0002094	Dyspnea	2	EOMES CL E G H	8320	3372	ORPHA:171703	Microcephaly-polymicrogyria-corpus callosum agenesis syndrome			7
HP:0002795	HP:0002094	Dyspnea	2	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0002795	HP:0002104	Apnea	2	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0002795	HP:0002104	Apnea	2	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency			250
HP:0002795	HP:0002094	Dyspnea	2	EPHA4 CL E G H	2043	3388	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		4
HP:0002795	HP:0002878	Respiratory failure	2	EPHA4 CL E G H	2043	3388	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		4
HP:0002795	HP:0002094	Dyspnea	2	EPHB4 CL E G H	2050	3395	OMIM:617300	Lymphatic malformation 7			3
HP:0002795	HP:0002094	Dyspnea	2	EPOR CL E G H	2057	3416	ORPHA:90042	Primary familial polycythemia	HP:0040281 - Very frequent		43
HP:0002795	HP:0002204	Pulmonary embolism	2	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease	HP:0040283 - Occasional		1
HP:0002795	HP:0002878	Respiratory failure	2	ERBB3 CL E G H	2065	3431	OMIM:607598	Lethal congenital contracture syndrome 2	.	HP:0003593 - Infantile onset	12
HP:0002795	HP:0002094	Dyspnea	2	ERBB4 CL E G H	2066	3432	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		15
HP:0002795	HP:0002878	Respiratory failure	2	ERBB4 CL E G H	2066	3432	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		15
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	ERBB4 CL E G H	2066	3432	OMIM:615515	Amyotrophic lateral sclerosis 19	.		15
HP:0002795	HP:0025428	Bronchospasm	2	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		106
HP:0002795	HP:0025428	Bronchospasm	2	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		54
HP:0002795	HP:0002094	Dyspnea	2	ERF CL E G H	2077	3444	OMIM:617180	Chitayat syndrome			12
HP:0002795	HP:0002094	Dyspnea	2	ERGIC1 CL E G H	57222	29205	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	ERGIC1 CL E G H	57222	29205	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040283 - Occasional
HP:0002795	HP:0002094	Dyspnea	2	ETFA CL E G H	2108	3481	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency			37
HP:0002795	HP:0002094	Dyspnea	2	ETFB CL E G H	2109	3482	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency			27
HP:0002795	HP:0002094	Dyspnea	2	ETFDH CL E G H	2110	3483	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency			77
HP:0002795	HP:0002104	Apnea	2	EXOC2 CL E G H	55770	24968	OMIM:619306	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH			1
HP:0002795	HP:0005943	Respiratory arrest	2	EXOC6B CL E G H	23233	17085	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity			3
HP:0002795	HP:0002878	Respiratory failure	2	EXOSC3 CL E G H	51010	17944	ORPHA:2254	Pontocerebellar hypoplasia type 1			38
HP:0002795	HP:0010307	Stridor	2	EXOSC3 CL E G H	51010	17944	ORPHA:2254	Pontocerebellar hypoplasia type 1			38
HP:0002795	HP:0002878	Respiratory failure	2	EXOSC8 CL E G H	11340	17035	ORPHA:2254	Pontocerebellar hypoplasia type 1			4
HP:0002795	HP:0010307	Stridor	2	EXOSC8 CL E G H	11340	17035	ORPHA:2254	Pontocerebellar hypoplasia type 1			4
HP:0002795	HP:0002878	Respiratory failure	2	EXOSC8 CL E G H	11340	17035	OMIM:616081	Pontocerebellar hypoplasia, type 1C	.		4
HP:0002795	HP:0002878	Respiratory failure	2	EXOSC9 CL E G H	5393	9137	ORPHA:2254	Pontocerebellar hypoplasia type 1
HP:0002795	HP:0010307	Stridor	2	EXOSC9 CL E G H	5393	9137	ORPHA:2254	Pontocerebellar hypoplasia type 1
HP:0002795	HP:0002781	Upper airway obstruction	2	F12 CL E G H	2161	3530	OMIM:610618	ANGIOEDEMA, HEREDITARY, TYPE III; HAE3			28
HP:0002795	HP:0002204	Pulmonary embolism	2	F13A1 CL E G H	2162	3531	OMIM:188050	Thrombophiliavenous thromboembolism, included	.		60
HP:0002795	HP:0002204	Pulmonary embolism	2	F2 CL E G H	2147	3535	OMIM:188050	Thrombophiliavenous thromboembolism, included	.		44
HP:0002795	HP:0002204	Pulmonary embolism	2	F8 CL E G H	2157	3546	OMIM:301071	THROMBOPHILIA, X-LINKED, DUE TO FACTOR VIII DEFECT; THPH13			303
HP:0002795	HP:0002094	Dyspnea	2	FAM13A CL E G H	10144	19367	ORPHA:2032	Idiopathic pulmonary fibrosis
HP:0002795	HP:0030830	Crackles	2	FAM13A CL E G H	10144	19367	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent
HP:0002795	HP:0002104	Apnea	2	FAM149B1 CL E G H	317662	29162	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional
HP:0002795	HP:0002789	Tachypnea	2	FAM149B1 CL E G H	317662	29162	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0002795	HP:0002094	Dyspnea	2	FAM20C CL E G H	56975	22140	ORPHA:1832	Lethal osteosclerotic bone dysplasia	HP:0040282 - Frequent		35
HP:0002795	HP:0002878	Respiratory failure	2	FAM20C CL E G H	56975	22140	ORPHA:1832	Lethal osteosclerotic bone dysplasia	HP:0040282 - Frequent		35
HP:0002795	HP:0002104	Apnea	2	FARS2 CL E G H	10667	21062	ORPHA:466722	Autosomal recessive spastic paraplegia type 77			36
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	FARSA CL E G H	2193	3592	OMIM:619013	RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2
HP:0002795	HP:0002789	Tachypnea	2	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0002795	HP:0002878	Respiratory failure	2	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0002795	HP:0002204	Pulmonary embolism	2	FAS CL E G H	355	11920	ORPHA:117	Behçet disease	HP:0040283 - Occasional		59
HP:0002795	HP:0002094	Dyspnea	2	FBN1 CL E G H	2200	3603	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			1361
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	FBN1 CL E G H	2200	3603	OMIM:614185	GELEOPHYSIC DYSPLASIA 2; GPHYSD2			1361
HP:0002795	HP:0002643	Neonatal respiratory distress	2	FBN1 CL E G H	2200	3603	ORPHA:284979	Neonatal Marfan syndrome	HP:0040281 - Very frequent		1361
HP:0002795	HP:0500165	Abnormal blood oxygen level	2	FBN1 CL E G H	2200	3603	ORPHA:284979	Neonatal Marfan syndrome			1361
HP:0002795	HP:0002104	Apnea	2	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040283 - Occasional		1361
HP:0002795	HP:0002094	Dyspnea	2	FBP1 CL E G H	2203	3606	OMIM:229700	Fructose-1,6-Bisphosphatase deficiency	.		64
HP:0002795	HP:0002094	Dyspnea	2	FBP1 CL E G H	2203	3606	ORPHA:348	Fructose-1,6-bisphosphatase deficiency	HP:0040283 - Occasional		64
HP:0002795	HP:0002104	Apnea	2	FBP1 CL E G H	2203	3606	OMIM:229700	Fructose-1,6-Bisphosphatase deficiency	.		64
HP:0002795	HP:0002104	Apnea	2	FBP1 CL E G H	2203	3606	ORPHA:348	Fructose-1,6-bisphosphatase deficiency			64
HP:0002795	HP:0002789	Tachypnea	2	FBP1 CL E G H	2203	3606	ORPHA:348	Fructose-1,6-bisphosphatase deficiency			64
HP:0002795	HP:0002883	Hyperventilation	2	FBP1 CL E G H	2203	3606	ORPHA:348	Fructose-1,6-bisphosphatase deficiency			64
HP:0002795	HP:0002883	Hyperventilation	2	FBP1 CL E G H	2203	3606	OMIM:229700	Fructose-1,6-Bisphosphatase deficiency	.		64
HP:0002795	HP:0002104	Apnea	2	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0002795	HP:0032341	Reduced forced vital capacity	2	FCGR2A CL E G H	2212	3616	OMIM:219700	Cystic fibrosis			6
HP:0002795	HP:0032342	Reduced forced expiratory volume in one second	2	FCGR2A CL E G H	2212	3616	OMIM:219700	Cystic fibrosis			6
HP:0002795	HP:0032359	Decreased forced expiratory flow 25-75%	2	FCGR2A CL E G H	2212	3616	OMIM:219700	Cystic fibrosis			6
HP:0002795	HP:0030828	Wheezing	2	FCGR3A CL E G H	2214	3619	OMIM:615707	Immunodeficiency 20			4
HP:0002795	HP:0002104	Apnea	2	FGF13 CL E G H	2258	3670	OMIM:301058	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE90			1
HP:0002795	HP:0002104	Apnea	2	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly			17
HP:0002795	HP:0002104	Apnea	2	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly			17
HP:0002795	HP:0002104	Apnea	2	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			17
HP:0002795	HP:0002104	Apnea	2	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly			17
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	FGFR1 CL E G H	2260	3688	ORPHA:2396	Encephalocraniocutaneous lipomatosis			172
HP:0002795	HP:0002104	Apnea	2	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly			172
HP:0002795	HP:0002094	Dyspnea	2	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia			172
HP:0002795	HP:0002104	Apnea	2	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly			172
HP:0002795	HP:0002781	Upper airway obstruction	2	FGFR2 CL E G H	2263	3689	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	.		175
HP:0002795	HP:0002094	Dyspnea	2	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome			175
HP:0002795	HP:0002104	Apnea	2	FGFR2 CL E G H	2263	3689	OMIM:123500	Crouzon syndrome			175
HP:0002795	HP:0002094	Dyspnea	2	FGFR2 CL E G H	2263	3689	ORPHA:1555	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome			175
HP:0002795	HP:0002094	Dyspnea	2	FGFR2 CL E G H	2263	3689	ORPHA:93259	Pfeiffer syndrome type 2			175
HP:0002795	HP:0002094	Dyspnea	2	FGFR2 CL E G H	2263	3689	ORPHA:93260	Pfeiffer syndrome type 3			175
HP:0002795	HP:0002104	Apnea	2	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome			175
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	FGFR3 CL E G H	2261	3690	ORPHA:15	Achondroplasia	HP:0040283 - Occasional		145
HP:0002795	HP:0002094	Dyspnea	2	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA			145
HP:0002795	HP:0002104	Apnea	2	FGFR3 CL E G H	2261	3690	ORPHA:15	Achondroplasia			145
HP:0002795	HP:0002781	Upper airway obstruction	2	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA	.		145
HP:0002795	HP:0500165	Abnormal blood oxygen level	2	FGFR3 CL E G H	2261	3690	ORPHA:15	Achondroplasia			145
HP:0002795	HP:0002104	Apnea	2	FGFR3 CL E G H	2261	3690	OMIM:616482	Achondroplasia, severe, with developmental delay and acanthosis nigricans			145
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	FGFR3 CL E G H	2261	3690	OMIM:616482	Achondroplasia, severe, with developmental delay and acanthosis nigricans			145
HP:0002795	HP:0002104	Apnea	2	FGFR3 CL E G H	2261	3690	ORPHA:429	Hypochondroplasia			145
HP:0002795	HP:0002104	Apnea	2	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome			145
HP:0002795	HP:0002643	Neonatal respiratory distress	2	FGFR3 CL E G H	2261	3690	OMIM:187600	Thanatophoric dysplasia, type I			145
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	FHL1 CL E G H	2273	3702	OMIM:300718	Myopathy, reducing body, X-linked, childhood-onset	.		68
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	FHL1 CL E G H	2273	3702	OMIM:300717	Myopathy, reducing body, X-linked, early-onset, severe	.		68
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040284 - Very rare		68
HP:0002795	HP:0002094	Dyspnea	2	FIG4 CL E G H	9896	16873	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		111
HP:0002795	HP:0002878	Respiratory failure	2	FIG4 CL E G H	9896	16873	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		111
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome			111
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome			111
HP:0002795	HP:0002094	Dyspnea	2	FIP1L1 CL E G H	81608	19124	ORPHA:520	Acute promyelocytic leukemia			4
HP:0002795	HP:0031245	Productive cough	2	FIP1L1 CL E G H	81608	19124	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional		4
HP:0002795	HP:0002878	Respiratory failure	2	FKRP CL E G H	79147	17997	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional		157
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	FKRP CL E G H	79147	17997	OMIM:606612	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5	.		157
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	FKRP CL E G H	79147	17997	OMIM:607155	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5	.		157
HP:0002795	HP:0002791	Hypoventilation	2	FKRP CL E G H	79147	17997	OMIM:607155	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5			157
HP:0002795	HP:0032341	Reduced forced vital capacity	2	FKRP CL E G H	79147	17997	OMIM:607155	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5	.		157
HP:0002795	HP:0002104	Apnea	2	FLCN CL E G H	201163	27310	OMIM:610883	Potocki-Lupski syndrome			332
HP:0002795	HP:0002094	Dyspnea	2	FLNA CL E G H	2316	3754	ORPHA:555877	FLNA-related X-linked myxomatous valvular dysplasia			493
HP:0002795	HP:0010307	Stridor	2	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia	.		493
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome			493
HP:0002795	HP:0002878	Respiratory failure	2	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II	.		493
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome	.		233
HP:0002795	HP:0002094	Dyspnea	2	FLNC CL E G H	2318	3756	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040283 - Occasional		197
HP:0002795	HP:0030950	Pulmonary venous hypertension	2	FLNC CL E G H	2318	3756	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040282 - Frequent		197
HP:0002795	HP:0012653	Status asthmaticus	2	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0002795	HP:0002094	Dyspnea	2	FOXE3 CL E G H	2301	3808	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			23
HP:0002795	HP:0002643	Neonatal respiratory distress	2	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins			61
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins			61
HP:0002795	HP:0002094	Dyspnea	2	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia			61
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia			61
HP:0002795	HP:0002104	Apnea	2	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly			48
HP:0002795	HP:0002104	Apnea	2	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly			48
HP:0002795	HP:0002104	Apnea	2	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			48
HP:0002795	HP:0002104	Apnea	2	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly			48
HP:0002795	HP:0002643	Neonatal respiratory distress	2	FOXJ1 CL E G H	2302	3816	OMIM:618699	CILIARY DYSKINESIA, PRIMARY, 43; CILD43
HP:0002795	HP:0031245	Productive cough	2	FOXJ1 CL E G H	2302	3816	OMIM:618699	CILIARY DYSKINESIA, PRIMARY, 43; CILD43
HP:0002795	HP:0002643	Neonatal respiratory distress	2	FOXJ1 CL E G H	2302	3816	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0002795	HP:0002878	Respiratory failure	2	FOXJ1 CL E G H	2302	3816	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0002795	HP:0030828	Wheezing	2	FOXJ1 CL E G H	2302	3816	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0002795	HP:0031245	Productive cough	2	FOXJ1 CL E G H	2302	3816	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome			184
HP:0002795	HP:0002094	Dyspnea	2	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome			32
HP:0002795	HP:0002104	Apnea	2	FOXRED1 CL E G H	55572	26927	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		61
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	FRG1 CL E G H	2483	3954	OMIM:158900	Facioscapulohumeral muscular dystrophy 1	.		1
HP:0002795	HP:0002094	Dyspnea	2	FUS CL E G H	2521	4010	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		105
HP:0002795	HP:0002878	Respiratory failure	2	FUS CL E G H	2521	4010	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		105
HP:0002795	HP:0002104	Apnea	2	FUZ CL E G H	80199	26219	ORPHA:1136	Arnold-Chiari malformation type II	HP:0040283 - Occasional		3
HP:0002795	HP:0010307	Stridor	2	FUZ CL E G H	80199	26219	ORPHA:1136	Arnold-Chiari malformation type II			3
HP:0002795	HP:0002104	Apnea	2	FXR1 CL E G H	8087	4023	OMIM:618823	MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS; MYOPMIL
HP:0002795	HP:0002104	Apnea	2	FXR1 CL E G H	8087	4023	OMIM:618822	MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES; MYORIBF
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive			37
HP:0002795	HP:0002094	Dyspnea	2	GAA CL E G H	2548	4065	ORPHA:308552	Glycogen storage disease due to acid maltase deficiency, infantile onset			407
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	GAA CL E G H	2548	4065	ORPHA:308552	Glycogen storage disease due to acid maltase deficiency, infantile onset	HP:0040282 - Frequent		407
HP:0002795	HP:0002878	Respiratory failure	2	GAA CL E G H	2548	4065	ORPHA:308552	Glycogen storage disease due to acid maltase deficiency, infantile onset	HP:0040282 - Frequent		407
HP:0002795	HP:0004887	Respiratory failure requiring assisted ventilation	2	GAA CL E G H	2548	4065	ORPHA:308552	Glycogen storage disease due to acid maltase deficiency, infantile onset	HP:0040282 - Frequent		407
HP:0002795	HP:0002094	Dyspnea	2	GAA CL E G H	2548	4065	OMIM:232300	Glycogen storage disease II	.		407
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	GAA CL E G H	2548	4065	OMIM:232300	Glycogen storage disease II	.		407
HP:0002795	HP:0002104	Apnea	2	GABBR2 CL E G H	9568	4507	ORPHA:3095	Atypical Rett syndrome			5
HP:0002795	HP:0002789	Tachypnea	2	GABBR2 CL E G H	9568	4507	ORPHA:3095	Atypical Rett syndrome			5
HP:0002795	HP:0002104	Apnea	2	GABBR2 CL E G H	9568	4507	OMIM:617903	Neurodevelopmental disorder with poor language and loss of hand skills	.		5
HP:0002795	HP:0002883	Hyperventilation	2	GABBR2 CL E G H	9568	4507	OMIM:617903	Neurodevelopmental disorder with poor language and loss of hand skills	.		5
HP:0002795	HP:0002883	Hyperventilation	2	GABRA1 CL E G H	2554	4075	ORPHA:64280	Childhood absence epilepsy	HP:0040283 - Occasional		134
HP:0002795	HP:0002203	Respiratory paralysis	2	GABRA3 CL E G H	2556	4077	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040284 - Very rare
HP:0002795	HP:0002883	Hyperventilation	2	GABRB3 CL E G H	2562	4083	ORPHA:64280	Childhood absence epilepsy	HP:0040283 - Occasional		57
HP:0002795	HP:0002883	Hyperventilation	2	GABRG2 CL E G H	2566	4087	ORPHA:64280	Childhood absence epilepsy	HP:0040283 - Occasional		139
HP:0002795	HP:0002104	Apnea	2	GABRG2 CL E G H	2566	4087	ORPHA:1945	Rolandic epilepsy			139
HP:0002795	HP:0002094	Dyspnea	2	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease			160
HP:0002795	HP:0002878	Respiratory failure	2	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease	HP:0040283 - Occasional		160
HP:0002795	HP:0002643	Neonatal respiratory distress	2	GALK1 CL E G H	2584	4118	ORPHA:79237	Galactokinase deficiency			23
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A	.		123
HP:0002795	HP:4000007	Bronchoconstriction	2	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A			123
HP:0002795	HP:0002104	Apnea	2	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly			2
HP:0002795	HP:0002104	Apnea	2	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly			2
HP:0002795	HP:0002104	Apnea	2	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			2
HP:0002795	HP:0002104	Apnea	2	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly			2
HP:0002795	HP:0031603	Impaired nasal mucociliary clearance	2	GAS2L2 CL E G H	246176	24846	OMIM:618449	Ciliary dyskinesia, primary, 41			1
HP:0002795	HP:0002643	Neonatal respiratory distress	2	GAS2L2 CL E G H	246176	24846	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		1
HP:0002795	HP:0002878	Respiratory failure	2	GAS2L2 CL E G H	246176	24846	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		1
HP:0002795	HP:0030828	Wheezing	2	GAS2L2 CL E G H	246176	24846	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		1
HP:0002795	HP:0031245	Productive cough	2	GAS2L2 CL E G H	246176	24846	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		1
HP:0002795	HP:0012262	Abnormal ciliary motility	2	GAS8 CL E G H	2622	4166	OMIM:616726	Ciliary dyskinesia, primary, 33			9
HP:0002795	HP:0002643	Neonatal respiratory distress	2	GAS8 CL E G H	2622	4166	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		9
HP:0002795	HP:0002878	Respiratory failure	2	GAS8 CL E G H	2622	4166	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		9
HP:0002795	HP:0030828	Wheezing	2	GAS8 CL E G H	2622	4166	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		9
HP:0002795	HP:0031245	Productive cough	2	GAS8 CL E G H	2622	4166	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		9
HP:0002795	HP:0002878	Respiratory failure	2	GATA2 CL E G H	2624	4171	ORPHA:3226	Deafness-lymphedema-leukemia syndrome	HP:0040281 - Very frequent		137
HP:0002795	HP:0002094	Dyspnea	2	GATA4 CL E G H	2626	4173	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional		87
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	GATA4 CL E G H	2626	4173	ORPHA:99103	Atrial septal defect, ostium secundum type			87
HP:0002795	HP:0005317	Increased pulmonary vascular resistance	2	GATA4 CL E G H	2626	4173	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040284 - Very rare		87
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	GATA6 CL E G H	2627	4174	OMIM:614475	Atrial septal defect 9			37
HP:0002795	HP:0002094	Dyspnea	2	GATA6 CL E G H	2627	4174	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional		37
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	GATA6 CL E G H	2627	4174	ORPHA:99103	Atrial septal defect, ostium secundum type			37
HP:0002795	HP:0005317	Increased pulmonary vascular resistance	2	GATA6 CL E G H	2627	4174	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040284 - Very rare		37
HP:0002795	HP:0002094	Dyspnea	2	GATA6 CL E G H	2627	4174	ORPHA:2140	Congenital diaphragmatic hernia			37
HP:0002795	HP:0500165	Abnormal blood oxygen level	2	GATA6 CL E G H	2627	4174	ORPHA:2140	Congenital diaphragmatic hernia			37
HP:0002795	HP:0002094	Dyspnea	2	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome			37
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	GBA1 CL E G H	2629	4177	ORPHA:77259	Gaucher disease type 1
HP:0002795	HP:0002094	Dyspnea	2	GBA1 CL E G H	2629	4177	ORPHA:77260	Gaucher disease type 2
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	GBA1 CL E G H	2629	4177	ORPHA:77261	Gaucher disease type 3
HP:0002795	HP:0002094	Dyspnea	2	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal
HP:0002795	HP:0002104	Apnea	2	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal	.
HP:0002795	HP:0002094	Dyspnea	2	GBA1 CL E G H	2629	4177	OMIM:230800	Gaucher disease, type I	.
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	GBA1 CL E G H	2629	4177	OMIM:230800	Gaucher disease, type I
HP:0002795	HP:0002104	Apnea	2	GBA1 CL E G H	2629	4177	OMIM:230900	Gaucher disease, type II	.
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
HP:0002795	HP:0032342	Reduced forced expiratory volume in one second	2	GCLC CL E G H	2729	4311	ORPHA:586	Cystic fibrosis			2
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	GDAP1 CL E G H	54332	15968	ORPHA:99948	Charcot-Marie-Tooth disease type 4A			108
HP:0002795	HP:0002204	Pulmonary embolism	2	GDF2 CL E G H	2658	4217	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional		8
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	GDF2 CL E G H	2658	4217	ORPHA:774	Hereditary hemorrhagic telangiectasia			8
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	GFPT1 CL E G H	2673	4241	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency	.		128
HP:0002795	HP:0002878	Respiratory failure	2	GFRA1 CL E G H	2674	4243	OMIM:619887				1
HP:0002795	HP:0032341	Reduced forced vital capacity	2	GGPS1 CL E G H	9453	4249	OMIM:619518	MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040283 - Occasional
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040282 - Frequent
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	GJA1 CL E G H	2697	4274	OMIM:600309	Atrioventricular septal defect 3			68
HP:0002795	HP:0002094	Dyspnea	2	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease	HP:0040283 - Occasional		291
HP:0002795	HP:0006510	Chronic pulmonary obstruction	2	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease	HP:0040283 - Occasional		291
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	GLB1 CL E G H	2720	4298	OMIM:253010	Mucopolysaccharidosis type IVB (Morquio)	.		120
HP:0002795	HP:0002094	Dyspnea	2	GLE1 CL E G H	2733	4315	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		45
HP:0002795	HP:0002878	Respiratory failure	2	GLE1 CL E G H	2733	4315	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		45
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	GLE1 CL E G H	2733	4315	OMIM:611890	Congenital arthrogryposis with anterior horn cell disease	.		45
HP:0002795	HP:0002878	Respiratory failure	2	GLE1 CL E G H	2733	4315	OMIM:611890	Congenital arthrogryposis with anterior horn cell disease	.		45
HP:0002795	HP:0002104	Apnea	2	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly			173
HP:0002795	HP:0002104	Apnea	2	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly			173
HP:0002795	HP:0002104	Apnea	2	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			173
HP:0002795	HP:0002104	Apnea	2	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly			173
HP:0002795	HP:0002104	Apnea	2	GLRA1 CL E G H	2741	4326	OMIM:149400	Hyperekplexia 1	.		63
HP:0002795	HP:0002878	Respiratory failure	2	GLS CL E G H	2744	4331	OMIM:618328	Epileptic encephalopathy, early infantile, 71	.
HP:0002795	HP:0002094	Dyspnea	2	GLT8D1 CL E G H	55830	24870	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0002795	HP:0002878	Respiratory failure	2	GLT8D1 CL E G H	55830	24870	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0002795	HP:0002104	Apnea	2	GLUL CL E G H	2752	4341	OMIM:610015	GLUTAMINE DEFICIENCY, CONGENITAL			98
HP:0002795	HP:0002643	Neonatal respiratory distress	2	GLUL CL E G H	2752	4341	OMIM:610015	GLUTAMINE DEFICIENCY, CONGENITAL			98
HP:0002795	HP:0002643	Neonatal respiratory distress	2	GLYCTK CL E G H	132158	24247	OMIM:220120	D-GLYCERIC ACIDURIA			6
HP:0002795	HP:0002094	Dyspnea	2	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent		3
HP:0002795	HP:0002878	Respiratory failure	2	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent		3
HP:0002795	HP:0002643	Neonatal respiratory distress	2	GMPPA CL E G H	29926	22923	OMIM:615510	Alacrima, achalasia, and mental retardation syndrome			24
HP:0002795	HP:0002878	Respiratory failure	2	GMPPB CL E G H	29925	22932	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional		34
HP:0002795	HP:0002094	Dyspnea	2	GNAI3 CL E G H	2773	4387	ORPHA:137888	Auriculocondylar syndrome			2
HP:0002795	HP:0002104	Apnea	2	GNAI3 CL E G H	2773	4387	ORPHA:137888	Auriculocondylar syndrome			2
HP:0002795	HP:0025267	Snoring	2	GNAI3 CL E G H	2773	4387	ORPHA:137888	Auriculocondylar syndrome	HP:0040282 - Frequent		2
HP:0002795	HP:0002104	Apnea	2	GNAI3 CL E G H	2773	4387	OMIM:602483	Auriculocondylar syndrome 1	.		2
HP:0002795	HP:0025267	Snoring	2	GNAI3 CL E G H	2773	4387	OMIM:602483	Auriculocondylar syndrome 1	.		2
HP:0002795	HP:0002204	Pulmonary embolism	2	GNAQ CL E G H	2776	4390	ORPHA:624	Familial multiple nevi flammei	HP:0040283 - Occasional		7
HP:0002795	HP:0002204	Pulmonary embolism	2	GNAQ CL E G H	2776	4390	ORPHA:3205	Sturge-Weber syndrome	HP:0040283 - Occasional		7
HP:0002795	HP:0002094	Dyspnea	2	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A	HP:0040283 - Occasional		101
HP:0002795	HP:0002094	Dyspnea	2	GNAS CL E G H	2778	4392	ORPHA:94089	Pseudohypoparathyroidism type 1B	HP:0040283 - Occasional		101
HP:0002795	HP:0002094	Dyspnea	2	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C	HP:0040283 - Occasional		101
HP:0002795	HP:0010307	Stridor	2	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42			12
HP:0002795	HP:0002104	Apnea	2	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0002795	HP:0002643	Neonatal respiratory distress	2	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0002795	HP:0002104	Apnea	2	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria			173
HP:0002795	HP:0002104	Apnea	2	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA			173
HP:0002795	HP:0002781	Upper airway obstruction	2	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria	HP:0040281 - Very frequent		173
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II	HP:0040282 - Frequent		240
HP:0002795	HP:0002104	Apnea	2	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II			240
HP:0002795	HP:0004887	Respiratory failure requiring assisted ventilation	2	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II	HP:0040284 - Very rare		240
HP:0002795	HP:0010307	Stridor	2	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II	HP:0040283 - Occasional		240
HP:0002795	HP:0006510	Chronic pulmonary obstruction	2	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		8
HP:0002795	HP:0002643	Neonatal respiratory distress	2	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0002795	HP:0002643	Neonatal respiratory distress	2	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0002795	HP:0002104	Apnea	2	GPHN CL E G H	10243	15465	OMIM:149400	Hyperekplexia 1	.		18
HP:0002795	HP:0002104	Apnea	2	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly			5
HP:0002795	HP:0002104	Apnea	2	GPR101 CL E G H	83550	14963	OMIM:300942	Chromosome Xq26.3 duplication syndrome			5
HP:0002795	HP:0025267	Snoring	2	GPR101 CL E G H	83550	14963	OMIM:300942	Chromosome Xq26.3 duplication syndrome	.		5
HP:0002795	HP:0005943	Respiratory arrest	2	GPX4 CL E G H	2879	4556	ORPHA:93317	Spondylometaphyseal dysplasia, Sedaghatian type			3
HP:0002795	HP:0002104	Apnea	2	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
HP:0002795	HP:0002104	Apnea	2	GRIK2 CL E G H	2898	4580	OMIM:619580	NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS			32
HP:0002795	HP:0002104	Apnea	2	GRIN1 CL E G H	2902	4584	OMIM:619814	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 101; DEE101			108
HP:0002795	HP:0002104	Apnea	2	GRIN2A CL E G H	2903	4585	ORPHA:1945	Rolandic epilepsy			434
HP:0002795	HP:0002643	Neonatal respiratory distress	2	GRM7 CL E G H	2917	4599	OMIM:618922	NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA			5
HP:0002795	HP:0002104	Apnea	2	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis			53
HP:0002795	HP:0032342	Reduced forced expiratory volume in one second	2	GSTM3 CL E G H	2947	4635	ORPHA:586	Cystic fibrosis			1
HP:0002795	HP:0025428	Bronchospasm	2	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		2
HP:0002795	HP:0025428	Bronchospasm	2	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0002795	HP:0002094	Dyspnea	2	GTPBP3 CL E G H	84705	14880	ORPHA:444013	Combined oxidative phosphorylation defect type 23			30
HP:0002795	HP:0002878	Respiratory failure	2	GTPBP3 CL E G H	84705	14880	ORPHA:444013	Combined oxidative phosphorylation defect type 23	HP:0040283 - Occasional		30
HP:0002795	HP:0010307	Stridor	2	GTPBP3 CL E G H	84705	14880	ORPHA:444013	Combined oxidative phosphorylation defect type 23	HP:0040283 - Occasional		30
HP:0002795	HP:0002104	Apnea	2	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII			54
HP:0002795	HP:0025267	Snoring	2	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII			54
HP:0002795	HP:0002094	Dyspnea	2	GYG1 CL E G H	2992	4699	ORPHA:263297	Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency			18
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	GZF1 CL E G H	64412	15808	OMIM:617662	Joint laxity, short stature, and myopia	.
HP:0002795	HP:0002104	Apnea	2	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0002795	HP:0002204	Pulmonary embolism	2	HABP2 CL E G H	3026	4798	OMIM:188050	Thrombophiliavenous thromboembolism, included	.		58
HP:0002795	HP:0002104	Apnea	2	HACD1 CL E G H	9200	9639	OMIM:619967				2
HP:0002795	HP:0002643	Neonatal respiratory distress	2	HACD1 CL E G H	9200	9639	OMIM:619967				2
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		2
HP:0002795	HP:0002878	Respiratory failure	2	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		2
HP:0002795	HP:0004878	Intercostal muscle weakness	2	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		2
HP:0002795	HP:0500165	Abnormal blood oxygen level	2	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy			2
HP:0002795	HP:0500164	Abnormal blood carbon dioxide level	2	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy			2
HP:0002795	HP:0002878	Respiratory failure	2	HADHA CL E G H	3030	4801	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040283 - Occasional		99
HP:0002795	HP:0002878	Respiratory failure	2	HADHA CL E G H	3030	4801	OMIM:609015	Mitochondrial trifunctional protein deficiency	.		99
HP:0002795	HP:0002878	Respiratory failure	2	HADHB CL E G H	3032	4803	OMIM:609015	Mitochondrial trifunctional protein deficiency	.		60
HP:0002795	HP:0002878	Respiratory failure	2	HADHB CL E G H	3032	4803	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040283 - Occasional		60
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	HBB CL E G H	3043	4827	ORPHA:231222	Beta-thalassemia intermedia			580
HP:0002795	HP:0002094	Dyspnea	2	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major	HP:0040282 - Frequent		580
HP:0002795	HP:0002094	Dyspnea	2	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia	HP:0040283 - Occasional		580
HP:0002795	HP:0500165	Abnormal blood oxygen level	2	HBB CL E G H	3043	4827	ORPHA:232	Sickle cell anemia			580
HP:0002795	HP:0500165	Abnormal blood oxygen level	2	HBB CL E G H	3043	4827	OMIM:603903	Sickle cell anemia			580
HP:0002795	HP:0002094	Dyspnea	2	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional		11
HP:0002795	HP:0002878	Respiratory failure	2	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional		11
HP:0002795	HP:0002104	Apnea	2	HDAC4 CL E G H	9759	14063	OMIM:619797	NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF			33
HP:0002795	HP:0025267	Snoring	2	HEPHL1 CL E G H	341208	30477	OMIM:261990	PILI TORTI AND DEVELOPMENTAL DELAY
HP:0002795	HP:0002104	Apnea	2	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0002795	HP:0002791	Hypoventilation	2	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome	.		38
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	HES7 CL E G H	84667	15977	OMIM:613686	Spondylocostal dysostosis 4, autosomal recessive	.		10
HP:0002795	HP:0002094	Dyspnea	2	HEY2 CL E G H	23493	4881	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection
HP:0002795	HP:0032342	Reduced forced expiratory volume in one second	2	HFE CL E G H	3077	4886	ORPHA:586	Cystic fibrosis			38
HP:0002795	HP:0006510	Chronic pulmonary obstruction	2	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		3
HP:0002795	HP:0002204	Pulmonary embolism	2	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease	HP:0040283 - Occasional		4
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	HLA-B CL E G H	3106	4932	ORPHA:36426	Stevens-Johnson syndrome	HP:0040283 - Occasional		4
HP:0002795	HP:0002094	Dyspnea	2	HLA-B CL E G H	3106	4932	ORPHA:36426	Stevens-Johnson syndrome	HP:0040283 - Occasional		4
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	HLA-B CL E G H	3106	4932	ORPHA:3287	Takayasu arteritis			4
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional
HP:0002795	HP:0006510	Chronic pulmonary obstruction	2	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis	HP:0040282 - Frequent
HP:0002795	HP:0002094	Dyspnea	2	HLA-DPB1 CL E G H	3115	4940	ORPHA:133	Chronic beryllium disease	HP:0040282 - Frequent		1
HP:0002795	HP:0030877	Reduced FEV1/FVC ratio	2	HLA-DPB1 CL E G H	3115	4940	ORPHA:133	Chronic beryllium disease	HP:0040282 - Frequent		1
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional		1
HP:0002795	HP:0006510	Chronic pulmonary obstruction	2	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis	HP:0040282 - Frequent		1
HP:0002795	HP:0030828	Wheezing	2	HLA-DQA1 CL E G H	3117	4942	ORPHA:930	Idiopathic achalasia	HP:0040283 - Occasional
HP:0002795	HP:0030828	Wheezing	2	HLA-DQB1 CL E G H	3119	4944	ORPHA:930	Idiopathic achalasia	HP:0040283 - Occasional
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	HLA-DRB1 CL E G H	3123	4948	ORPHA:747	Autoimmune pulmonary alveolar proteinosis	HP:0040282 - Frequent		2
HP:0002795	HP:0002094	Dyspnea	2	HLA-DRB1 CL E G H	3123	4948	ORPHA:747	Autoimmune pulmonary alveolar proteinosis	HP:0040282 - Frequent		2
HP:0002795	HP:0500165	Abnormal blood oxygen level	2	HLA-DRB1 CL E G H	3123	4948	ORPHA:747	Autoimmune pulmonary alveolar proteinosis			2
HP:0002795	HP:0045049	Abnormal DLCO	2	HLA-DRB1 CL E G H	3123	4948	ORPHA:747	Autoimmune pulmonary alveolar proteinosis			2
HP:0002795	HP:0030830	Crackles	2	HLA-DRB1 CL E G H	3123	4948	ORPHA:747	Autoimmune pulmonary alveolar proteinosis	HP:0040283 - Occasional		2
HP:0002795	HP:0002094	Dyspnea	2	HLA-DRB1 CL E G H	3123	4948	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040281 - Very frequent		2
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	HLA-DRB1 CL E G H	3123	4948	ORPHA:220393	Diffuse cutaneous systemic sclerosis			2
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	HLA-DRB1 CL E G H	3123	4948	ORPHA:220402	Limited cutaneous systemic sclerosis			2
HP:0002795	HP:0002094	Dyspnea	2	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis	HP:0040282 - Frequent		2
HP:0002795	HP:0002781	Upper airway obstruction	2	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional		2
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1			2
HP:0002795	HP:0002094	Dyspnea	2	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1	.		2
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1			2
HP:0002795	HP:0500165	Abnormal blood oxygen level	2	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1			2
HP:0002795	HP:4000007	Bronchoconstriction	2	HLA-G CL E G H	3135	4964	OMIM:600807	Asthma, susceptibility to	.
HP:0002795	HP:0002094	Dyspnea	2	HLCS CL E G H	3141	4976	ORPHA:79242	Holocarboxylase synthetase deficiency			148
HP:0002795	HP:0002789	Tachypnea	2	HLCS CL E G H	3141	4976	ORPHA:79242	Holocarboxylase synthetase deficiency	HP:0040282 - Frequent		148
HP:0002795	HP:0002789	Tachypnea	2	HLCS CL E G H	3141	4976	OMIM:253270	Holocarboxylase synthetase deficiency	.		148
HP:0002795	HP:0002883	Hyperventilation	2	HLCS CL E G H	3141	4976	OMIM:253270	Holocarboxylase synthetase deficiency	.		148
HP:0002795	HP:0002203	Respiratory paralysis	2	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria	HP:0040283 - Occasional		81
HP:0002795	HP:0002203	Respiratory paralysis	2	HMBS CL E G H	3145	4982	OMIM:176000	Porphyria, acute intermittent	.		81
HP:0002795	HP:0002104	Apnea	2	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria	HP:0040283 - Occasional		35
HP:0002795	HP:0002789	Tachypnea	2	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria	HP:0040282 - Frequent		35
HP:0002795	HP:0032342	Reduced forced expiratory volume in one second	2	HMOX1 CL E G H	3162	5013	ORPHA:586	Cystic fibrosis			3
HP:0002795	HP:0006510	Chronic pulmonary obstruction	2	HMOX1 CL E G H	3162	5013	OMIM:606963	Pulmonary disease, chronic obstructive	.		3
HP:0002795	HP:4000007	Bronchoconstriction	2	HNMT CL E G H	3176	5028	OMIM:600807	Asthma, susceptibility to	.		3
HP:0002795	HP:0002094	Dyspnea	2	HNRNPA1 CL E G H	3178	5031	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		31
HP:0002795	HP:0002878	Respiratory failure	2	HNRNPA1 CL E G H	3178	5031	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		31
HP:0002795	HP:0002791	Hypoventilation	2	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion			8
HP:0002795	HP:0002791	Hypoventilation	2	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation			8
HP:0002795	HP:0002791	Hypoventilation	2	HOXA1 CL E G H	3198	5099	OMIM:601536	ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME; ABDS			34
HP:0002795	HP:0004887	Respiratory failure requiring assisted ventilation	2	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	HPS1 CL E G H	3257	5163	OMIM:203300	Hermansky-Pudlak syndrome 1	.		121
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	HPS4 CL E G H	89781	15844	OMIM:614073	Hermansky-Pudlak syndrome 4	.		123
HP:0002795	HP:0002104	Apnea	2	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome			113
HP:0002795	HP:0002878	Respiratory failure	2	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome	.		113
HP:0002795	HP:0002643	Neonatal respiratory distress	2	HSD3B2 CL E G H	3284	5218	ORPHA:90791	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency			34
HP:0002795	HP:0002104	Apnea	2	HSPD1 CL E G H	3329	5261	OMIM:612233	Leukodystrophy, hypomyelinating, 4	.		46
HP:0002795	HP:0002104	Apnea	2	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040283 - Occasional		345
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome			345
HP:0002795	HP:0002104	Apnea	2	HTRA2 CL E G H	27429	14348	OMIM:617248	3-methylglutaconic aciduria, type VIII	.		39
HP:0002795	HP:0002878	Respiratory failure	2	HTRA2 CL E G H	27429	14348	OMIM:617248	3-methylglutaconic aciduria, type VIII	.		39
HP:0002795	HP:0005943	Respiratory arrest	2	HTRA2 CL E G H	27429	14348	OMIM:617248	3-methylglutaconic aciduria, type VIII			39
HP:0002795	HP:0040213	Hypopnea	2	HTRA2 CL E G H	27429	14348	OMIM:617248	3-methylglutaconic aciduria, type VIII			39
HP:0002795	HP:0002643	Neonatal respiratory distress	2	HYDIN CL E G H	54768	19368	OMIM:608647	Ciliary dyskinesia, primary, 5			21
HP:0002795	HP:0002878	Respiratory failure	2	HYDIN CL E G H	54768	19368	OMIM:608647	Ciliary dyskinesia, primary, 5			21
HP:0002795	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	2	HYDIN CL E G H	54768	19368	OMIM:608647	Ciliary dyskinesia, primary, 5	.		21
HP:0002795	HP:0012262	Abnormal ciliary motility	2	HYDIN CL E G H	54768	19368	OMIM:608647	Ciliary dyskinesia, primary, 5			21
HP:0002795	HP:0002643	Neonatal respiratory distress	2	HYDIN CL E G H	54768	19368	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		21
HP:0002795	HP:0002878	Respiratory failure	2	HYDIN CL E G H	54768	19368	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		21
HP:0002795	HP:0030828	Wheezing	2	HYDIN CL E G H	54768	19368	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		21
HP:0002795	HP:0031245	Productive cough	2	HYDIN CL E G H	54768	19368	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		21
HP:0002795	HP:0002104	Apnea	2	HYLS1 CL E G H	219844	26558	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		31
HP:0002795	HP:0002789	Tachypnea	2	HYLS1 CL E G H	219844	26558	ORPHA:475	Joubert syndrome			31
HP:0002795	HP:0002643	Neonatal respiratory distress	2	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6	HP:0040281 - Very frequent
HP:0002795	HP:0002878	Respiratory failure	2	IBA57 CL E G H	200205	27302	OMIM:615330	Multiple mitochondrial dysfunctions syndrome 3	.		16
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	ICOS CL E G H	29851	5351	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional		32
HP:0002795	HP:0002094	Dyspnea	2	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria			15
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form	HP:0040283 - Occasional		86
HP:0002795	HP:0002104	Apnea	2	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form			86
HP:0002795	HP:0002781	Upper airway obstruction	2	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form	HP:0040283 - Occasional		86
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form	HP:0040283 - Occasional		86
HP:0002795	HP:0002104	Apnea	2	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form			86
HP:0002795	HP:0002781	Upper airway obstruction	2	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form	HP:0040283 - Occasional		86
HP:0002795	HP:0002104	Apnea	2	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II			86
HP:0002795	HP:0002104	Apnea	2	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome			115
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome			115
HP:0002795	HP:0002104	Apnea	2	IDUA CL E G H	3425	5391	OMIM:607016	Scheie syndrome			115
HP:0002795	HP:0002094	Dyspnea	2	IFIH1 CL E G H	64135	18873	OMIM:619773	IMMUNODEFICIENCY 95; IMD95			28
HP:0002795	HP:0002878	Respiratory failure	2	IFIH1 CL E G H	64135	18873	OMIM:619773	IMMUNODEFICIENCY 95; IMD95			28
HP:0002795	HP:0002094	Dyspnea	2	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex			23
HP:0002795	HP:0002878	Respiratory failure	2	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex	HP:0040284 - Very rare		23
HP:0002795	HP:0002204	Pulmonary embolism	2	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease	HP:0040283 - Occasional		60
HP:0002795	HP:0002094	Dyspnea	2	IFT52 CL E G H	51098	15901	OMIM:617102	Short-Rib thoracic dysplasia 16 with or without polydactyly			4
HP:0002795	HP:0002094	Dyspnea	2	IFT81 CL E G H	28981	14313	OMIM:617895	Short-Rib thoracic dysplasia 19 with or without polydactyly			2
HP:0002795	HP:0002878	Respiratory failure	2	IFT81 CL E G H	28981	14313	OMIM:617895	Short-Rib thoracic dysplasia 19 with or without polydactyly			2
HP:0002795	HP:0002789	Tachypnea	2	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1	.		209
HP:0002795	HP:0002878	Respiratory failure	2	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1	.		209
HP:0002795	HP:0004887	Respiratory failure requiring assisted ventilation	2	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1			209
HP:0002795	HP:0010307	Stridor	2	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1			209
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti			52
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	IKZF1 CL E G H	10320	13176	ORPHA:36426	Stevens-Johnson syndrome	HP:0040283 - Occasional		8
HP:0002795	HP:0002094	Dyspnea	2	IKZF1 CL E G H	10320	13176	ORPHA:36426	Stevens-Johnson syndrome	HP:0040283 - Occasional		8
HP:0002795	HP:0002204	Pulmonary embolism	2	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease	HP:0040283 - Occasional		2
HP:0002795	HP:0002204	Pulmonary embolism	2	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0002795	HP:0002204	Pulmonary embolism	2	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	IL12B CL E G H	3593	5970	ORPHA:3287	Takayasu arteritis			31
HP:0002795	HP:4000007	Bronchoconstriction	2	IL13 CL E G H	3596	5973	OMIM:600807	Asthma, susceptibility to	.		2
HP:0002795	HP:0002094	Dyspnea	2	IL1RN CL E G H	3557	6000	OMIM:612852	Interleukin 1 receptor antagonist deficiency			40
HP:0002795	HP:0002204	Pulmonary embolism	2	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease	HP:0040283 - Occasional		1
HP:0002795	HP:0002094	Dyspnea	2	IL6ST CL E G H	3572	6021	OMIM:619751	STUVE-WIEDEMANN SYNDROME 2; STWS2
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	IL6ST CL E G H	3572	6021	OMIM:619751	STUVE-WIEDEMANN SYNDROME 2; STWS2
HP:0002795	HP:0002104	Apnea	2	INPP5E CL E G H	56623	21474	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		111
HP:0002795	HP:0002789	Tachypnea	2	INPP5E CL E G H	56623	21474	ORPHA:475	Joubert syndrome			111
HP:0002795	HP:0002104	Apnea	2	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1			111
HP:0002795	HP:0002789	Tachypnea	2	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1			111
HP:0002795	HP:0002790	Neonatal breathing dysregulation	2	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1	.		111
HP:0002795	HP:0002104	Apnea	2	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040281 - Very frequent		111
HP:0002795	HP:0002104	Apnea	2	INPP5E CL E G H	56623	21474	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040281 - Very frequent		111
HP:0002795	HP:0002878	Respiratory failure	2	INVS CL E G H	27130	17870	OMIM:602088	Nephronophthisis 2	.		106
HP:0002795	HP:0002094	Dyspnea	2	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0002795	HP:0002104	Apnea	2	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0002795	HP:0002791	Hypoventilation	2	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome	.
HP:0002795	HP:0002094	Dyspnea	2	IRAK1 CL E G H	3654	6112	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040283 - Occasional
HP:0002795	HP:0002094	Dyspnea	2	IRF2BP2 CL E G H	359948	21729	ORPHA:520	Acute promyelocytic leukemia			4
HP:0002795	HP:0031245	Productive cough	2	IRF2BP2 CL E G H	359948	21729	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional		4
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	IRF2BP2 CL E G H	359948	21729	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional		4
HP:0002795	HP:0002094	Dyspnea	2	IRF5 CL E G H	3663	6120	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040281 - Very frequent		4
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	IRF5 CL E G H	3663	6120	ORPHA:220393	Diffuse cutaneous systemic sclerosis			4
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	IRF5 CL E G H	3663	6120	ORPHA:220402	Limited cutaneous systemic sclerosis			4
HP:0002795	HP:0002094	Dyspnea	2	ISCU CL E G H	23479	29882	OMIM:255125	Myopathy with exercise intolerance, Swedish type	.		19
HP:0002795	HP:0032342	Reduced forced expiratory volume in one second	2	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD			3
HP:0002795	HP:0002094	Dyspnea	2	ITGA3 CL E G H	3675	6139	OMIM:614748	Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital			6
HP:0002795	HP:0002643	Neonatal respiratory distress	2	ITGA3 CL E G H	3675	6139	OMIM:614748	Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital	.		6
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		127
HP:0002795	HP:0002878	Respiratory failure	2	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		127
HP:0002795	HP:0004878	Intercostal muscle weakness	2	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		127
HP:0002795	HP:0500165	Abnormal blood oxygen level	2	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy			127
HP:0002795	HP:0500164	Abnormal blood carbon dioxide level	2	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy			127
HP:0002795	HP:0010307	Stridor	2	JAG1 CL E G H	182	6188	OMIM:619574	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH			257
HP:0002795	HP:0032341	Reduced forced vital capacity	2	JAG2 CL E G H	3714	6189	OMIM:619566	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27			1
HP:0002795	HP:0002094	Dyspnea	2	JAK2 CL E G H	3717	6192	OMIM:133100	Erythrocytosis, familial, 1			57
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	JAK2 CL E G H	3717	6192	ORPHA:71493	Familial thrombocytosis			57
HP:0002795	HP:0002204	Pulmonary embolism	2	JAK2 CL E G H	3717	6192	ORPHA:729	Polycythemia vera	HP:0040283 - Occasional		57
HP:0002795	HP:0006510	Chronic pulmonary obstruction	2	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		2
HP:0002795	HP:0002094	Dyspnea	2	JPH2 CL E G H	57158	14202	OMIM:613873	Cardiomyopathy, familial hypertrophic, 17	.		111
HP:0002795	HP:0002883	Hyperventilation	2	JRK CL E G H	8629	6199	ORPHA:64280	Childhood absence epilepsy	HP:0040283 - Occasional
HP:0002795	HP:0002878	Respiratory failure	2	JUP CL E G H	3728	6207	ORPHA:158687	Lethal acantholytic erosive disorder	HP:0040282 - Frequent		222
HP:0002795	HP:0002094	Dyspnea	2	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0002795	HP:0002643	Neonatal respiratory distress	2	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome	.		34
HP:0002795	HP:0002643	Neonatal respiratory distress	2	KAT6A CL E G H	7994	13013	ORPHA:457193	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	HP:0040282 - Frequent		34
HP:0002795	HP:0002104	Apnea	2	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome	HP:0040283 - Occasional		141
HP:0002795	HP:0002094	Dyspnea	2	KATNB1 CL E G H	10300	6217	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type			10
HP:0002795	HP:0002104	Apnea	2	KATNIP CL E G H	23247	29068	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent
HP:0002795	HP:0002789	Tachypnea	2	KATNIP CL E G H	23247	29068	ORPHA:475	Joubert syndrome
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		80
HP:0002795	HP:0002792	Reduced vital capacity	2	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		80
HP:0002795	HP:0002094	Dyspnea	2	KCNA1 CL E G H	3736	6218	ORPHA:37612	Episodic ataxia type 1			145
HP:0002795	HP:0002203	Respiratory paralysis	2	KCNE3 CL E G H	10008	6243	ORPHA:681	Hypokalemic periodic paralysis	HP:0040284 - Very rare		73
HP:0002795	HP:0002104	Apnea	2	KCNJ11 CL E G H	3767	6257	ORPHA:79644	Autosomal recessive hyperinsulinism due to Kir6.2 deficiency			127
HP:0002795	HP:0002203	Respiratory paralysis	2	KCNJ18 CL E G H	100134444	39080	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040284 - Very rare		10
HP:0002795	HP:0002204	Pulmonary embolism	2	KCNJ5 CL E G H	3762	6266	OMIM:613485	Long QT syndrome 13	.		128
HP:0002795	HP:0002094	Dyspnea	2	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome	HP:0040282 - Frequent		3
HP:0002795	HP:0002781	Upper airway obstruction	2	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome	HP:0040282 - Frequent		3
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	KCNK3 CL E G H	3777	6278	OMIM:615344	Pulmonary hypertension, primary, 4	.		7
HP:0002795	HP:0005317	Increased pulmonary vascular resistance	2	KCNK3 CL E G H	3777	6278	OMIM:615344	Pulmonary hypertension, primary, 4	.		7
HP:0002795	HP:0032342	Reduced forced expiratory volume in one second	2	KCNN4 CL E G H	3783	6293	ORPHA:586	Cystic fibrosis			3
HP:0002795	HP:0030950	Pulmonary venous hypertension	2	KCNN4 CL E G H	3783	6293	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040284 - Very rare		3
HP:0002795	HP:0002104	Apnea	2	KCNQ2 CL E G H	3785	6296	ORPHA:306	Benign familial infantile epilepsy	HP:0040282 - Frequent		528
HP:0002795	HP:0002104	Apnea	2	KCNQ2 CL E G H	3785	6296	ORPHA:1949	Benign familial neonatal epilepsy	HP:0040282 - Frequent		528
HP:0002795	HP:0002104	Apnea	2	KCNQ2 CL E G H	3785	6296	ORPHA:439218	KCNQ2-related epileptic encephalopathy	HP:0040282 - Frequent		528
HP:0002795	HP:0002104	Apnea	2	KCNQ3 CL E G H	3786	6297	ORPHA:306	Benign familial infantile epilepsy	HP:0040282 - Frequent		302
HP:0002795	HP:0002104	Apnea	2	KCNQ3 CL E G H	3786	6297	ORPHA:1949	Benign familial neonatal epilepsy	HP:0040282 - Frequent		302
HP:0002795	HP:0002883	Hyperventilation	2	KCNT1 CL E G H	57582	18865	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040283 - Occasional		321
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	KIAA0319L CL E G H	79932	30071	ORPHA:220402	Limited cutaneous systemic sclerosis
HP:0002795	HP:0002104	Apnea	2	KIAA0586 CL E G H	9786	19960	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		24
HP:0002795	HP:0002789	Tachypnea	2	KIAA0586 CL E G H	9786	19960	ORPHA:475	Joubert syndrome			24
HP:0002795	HP:0002104	Apnea	2	KIAA0586 CL E G H	9786	19960	OMIM:616490	Joubert syndrome 23	.		24
HP:0002795	HP:0002789	Tachypnea	2	KIAA0586 CL E G H	9786	19960	OMIM:616490	Joubert syndrome 23	.		24
HP:0002795	HP:0002104	Apnea	2	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional		24
HP:0002795	HP:0002789	Tachypnea	2	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040282 - Frequent		24
HP:0002795	HP:0002104	Apnea	2	KIAA0753 CL E G H	9851	29110	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional		4
HP:0002795	HP:0002789	Tachypnea	2	KIAA0753 CL E G H	9851	29110	ORPHA:2754	Orofaciodigital syndrome type 6			4
HP:0002795	HP:0002643	Neonatal respiratory distress	2	KIAA0753 CL E G H	9851	29110	OMIM:619479	SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21			4
HP:0002795	HP:0002094	Dyspnea	2	KIF20A CL E G H	10112	9787	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040283 - Occasional
HP:0002795	HP:0030950	Pulmonary venous hypertension	2	KIF20A CL E G H	10112	9787	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040282 - Frequent
HP:0002795	HP:0002643	Neonatal respiratory distress	2	KIF22 CL E G H	3835	6391	ORPHA:93360	Spondyloepimetaphyseal dysplasia with multiple dislocations			14
HP:0002795	HP:0010307	Stridor	2	KIF22 CL E G H	3835	6391	ORPHA:93360	Spondyloepimetaphyseal dysplasia with multiple dislocations			14
HP:0002795	HP:0002104	Apnea	2	KIF5A CL E G H	3798	6323	OMIM:617235	Myoclonus, intractable, neonatal	.		93
HP:0002795	HP:0002104	Apnea	2	KIF7 CL E G H	374654	30497	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional		167
HP:0002795	HP:0002789	Tachypnea	2	KIF7 CL E G H	374654	30497	ORPHA:2754	Orofaciodigital syndrome type 6			167
HP:0002795	HP:0005943	Respiratory arrest	2	KIT CL E G H	3815	6342	ORPHA:280785	Bullous diffuse cutaneous mastocytosis			327
HP:0002795	HP:0002094	Dyspnea	2	KIT CL E G H	3815	6342	ORPHA:79455	Cutaneous mastocytoma			327
HP:0002795	HP:0002878	Respiratory failure	2	KLHL40 CL E G H	131377	30372	OMIM:615348	NEMALINE MYOPATHY 8; NEM8			28
HP:0002795	HP:0002878	Respiratory failure	2	KLHL40 CL E G H	131377	30372	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent		28
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		13
HP:0002795	HP:0002792	Reduced vital capacity	2	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		13
HP:0002795	HP:0002878	Respiratory failure	2	KLHL41 CL E G H	10324	16905	ORPHA:171433	Intermediate nemaline myopathy	HP:0040282 - Frequent		13
HP:0002795	HP:0002878	Respiratory failure	2	KLHL41 CL E G H	10324	16905	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent		13
HP:0002795	HP:0002791	Hypoventilation	2	KLHL41 CL E G H	10324	16905	ORPHA:171436	Typical nemaline myopathy			13
HP:0002795	HP:0002094	Dyspnea	2	KLHL7 CL E G H	55975	15646	OMIM:617055	Crisponi/cold-Induced sweating syndrome 3			42
HP:0002795	HP:0002204	Pulmonary embolism	2	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0002795	HP:0002643	Neonatal respiratory distress	2	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent		1
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	KRAS CL E G H	3845	6407	ORPHA:2396	Encephalocraniocutaneous lipomatosis			196
HP:0002795	HP:0002094	Dyspnea	2	KRT16 CL E G H	3868	6423	ORPHA:2309	Pachyonychia congenita			27
HP:0002795	HP:0002094	Dyspnea	2	KRT17 CL E G H	3872	6427	ORPHA:2309	Pachyonychia congenita			23
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	KRT18 CL E G H	3875	6430	OMIM:215600	Cirrhosis, familial			19
HP:0002795	HP:0002094	Dyspnea	2	KRT6A CL E G H	3853	6443	ORPHA:2309	Pachyonychia congenita			41
HP:0002795	HP:0002094	Dyspnea	2	KRT6B CL E G H	3854	6444	ORPHA:2309	Pachyonychia congenita			4
HP:0002795	HP:0002791	Hypoventilation	2	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy	HP:0040283 - Occasional		411
HP:0002795	HP:0002878	Respiratory failure	2	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy	HP:0040281 - Very frequent		411
HP:0002795	HP:0004878	Intercostal muscle weakness	2	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy	HP:0040283 - Occasional		411
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy			411
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	LAMA2 CL E G H	3908	6482	OMIM:607855	Muscular dystrophy, congenital, merosin deficient or partially deficient	.		411
HP:0002795	HP:0002094	Dyspnea	2	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040282 - Frequent		116
HP:0002795	HP:0002878	Respiratory failure	2	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional		116
HP:0002795	HP:0010307	Stridor	2	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040282 - Frequent		116
HP:0002795	HP:0002094	Dyspnea	2	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes			92
HP:0002795	HP:0002104	Apnea	2	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes			92
HP:0002795	HP:0002643	Neonatal respiratory distress	2	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040283 - Occasional		92
HP:0002795	HP:0002791	Hypoventilation	2	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040283 - Occasional		92
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes			92
HP:0002795	HP:0002094	Dyspnea	2	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040282 - Frequent		167
HP:0002795	HP:0002878	Respiratory failure	2	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional		167
HP:0002795	HP:0010307	Stridor	2	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040282 - Frequent		167
HP:0002795	HP:0002094	Dyspnea	2	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040282 - Frequent		135
HP:0002795	HP:0002878	Respiratory failure	2	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional		135
HP:0002795	HP:0010307	Stridor	2	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040282 - Frequent		135
HP:0002795	HP:0005943	Respiratory arrest	2	LAMP2 CL E G H	3920	6501	ORPHA:34587	Glycogen storage disease due to LAMP-2 deficiency			211
HP:0002795	HP:0002878	Respiratory failure	2	LARGE1 CL E G H	9215	6511	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional		136
HP:0002795	HP:0002104	Apnea	2	LARP7 CL E G H	51574	24912	ORPHA:319671	Alazami syndrome			16
HP:0002795	HP:0002104	Apnea	2	LBX1 CL E G H	10660	16960	OMIM:619483	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 3; CCHS3
HP:0002795	HP:0002791	Hypoventilation	2	LBX1 CL E G H	10660	16960	OMIM:619483	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 3; CCHS3
HP:0002795	HP:0002878	Respiratory failure	2	LBX1 CL E G H	10660	16960	OMIM:619483	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 3; CCHS3
HP:0002795	HP:0002094	Dyspnea	2	LDLR CL E G H	3949	6547	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent		2157
HP:0002795	HP:0002094	Dyspnea	2	LDLRAP1 CL E G H	26119	18640	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent		73
HP:0002795	HP:0002094	Dyspnea	2	LGI4 CL E G H	163175	18712	ORPHA:2680	Hypomyelination neuropathy-arthrogryposis syndrome			6
HP:0002795	HP:0002104	Apnea	2	LIAS CL E G H	11019	16429	OMIM:614462	Hyperglycinemia, lactic acidosis, and seizures	.		31
HP:0002795	HP:0002094	Dyspnea	2	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome			144
HP:0002795	HP:0002104	Apnea	2	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome	HP:0040282 - Frequent		144
HP:0002795	HP:0002104	Apnea	2	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome	.		144
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome			144
HP:0002795	HP:0002104	Apnea	2	LIPT1 CL E G H	51601	29569	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		21
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	LIPT1 CL E G H	51601	29569	OMIM:616299	Lipoyltransferase 1 deficiency			21
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040284 - Very rare		645
HP:0002795	HP:0002094	Dyspnea	2	LMNA CL E G H	4000	6636	OMIM:181350	Emery-Dreifuss muscular dystrophy 2, autosomal dominant			645
HP:0002795	HP:0002094	Dyspnea	2	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome			645
HP:0002795	HP:0002781	Upper airway obstruction	2	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional		645
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome			645
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	LMNA CL E G H	4000	6636	OMIM:613205	Muscular dystrophy, congenital, lmna-related	.		645
HP:0002795	HP:0002094	Dyspnea	2	LMNA CL E G H	4000	6636	OMIM:619793	RESTRICTIVE DERMOPATHY 2; RSDM2			645
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	LMOD3 CL E G H	56203	6649	OMIM:616165	Nemaline myopathy 10	.		11
HP:0002795	HP:0002878	Respiratory failure	2	LMOD3 CL E G H	56203	6649	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent		11
HP:0002795	HP:0002791	Hypoventilation	2	LMOD3 CL E G H	56203	6649	ORPHA:171436	Typical nemaline myopathy			11
HP:0002795	HP:0002094	Dyspnea	2	LONP1 CL E G H	9361	9479	ORPHA:2140	Congenital diaphragmatic hernia			8
HP:0002795	HP:0500165	Abnormal blood oxygen level	2	LONP1 CL E G H	9361	9479	ORPHA:2140	Congenital diaphragmatic hernia			8
HP:0002795	HP:0002643	Neonatal respiratory distress	2	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040283 - Occasional		8
HP:0002795	HP:0002094	Dyspnea	2	LOX CL E G H	4015	6664	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			6
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1	.
HP:0002795	HP:0002094	Dyspnea	2	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1
HP:0002795	HP:0500164	Abnormal blood carbon dioxide level	2	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1
HP:0002795	HP:0032341	Reduced forced vital capacity	2	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	LRP4 CL E G H	4038	6696	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		124
HP:0002795	HP:0002094	Dyspnea	2	LRP4 CL E G H	4038	6696	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			124
HP:0002795	HP:0002792	Reduced vital capacity	2	LRP4 CL E G H	4038	6696	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		124
HP:0002795	HP:0002878	Respiratory failure	2	LRP4 CL E G H	4038	6696	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		124
HP:0002795	HP:0002104	Apnea	2	LRPPRC CL E G H	10128	15714	ORPHA:70472	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type			191
HP:0002795	HP:0002878	Respiratory failure	2	LRPPRC CL E G H	10128	15714	ORPHA:70472	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	HP:0040283 - Occasional		191
HP:0002795	HP:0002789	Tachypnea	2	LRPPRC CL E G H	10128	15714	OMIM:220111	Leigh syndrome, french Canadian type	.		191
HP:0002795	HP:0002104	Apnea	2	LRRC32 CL E G H	2615	4161	OMIM:619074	CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY; CPPRDD
HP:0002795	HP:0031417	Rhinorrhea	2	LRRC56 CL E G H	115399	25430	OMIM:618254	CILIARY DYSKINESIA, PRIMARY, 39; CILD39
HP:0002795	HP:0002643	Neonatal respiratory distress	2	LRRC56 CL E G H	115399	25430	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0002795	HP:0002878	Respiratory failure	2	LRRC56 CL E G H	115399	25430	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0002795	HP:0030828	Wheezing	2	LRRC56 CL E G H	115399	25430	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0002795	HP:0031245	Productive cough	2	LRRC56 CL E G H	115399	25430	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0002795	HP:0002094	Dyspnea	2	LTBP3 CL E G H	4054	6716	OMIM:617809	Geleophysic dysplasia 3	.		12
HP:0002795	HP:0002104	Apnea	2	LTBP3 CL E G H	4054	6716	OMIM:617809	Geleophysic dysplasia 3			12
HP:0002795	HP:0002878	Respiratory failure	2	LTBP3 CL E G H	4054	6716	OMIM:617809	Geleophysic dysplasia 3	.		12
HP:0002795	HP:0002094	Dyspnea	2	LYRM4 CL E G H	57128	21365	OMIM:615595	Combined oxidative phosphorylation deficiency 19			4
HP:0002795	HP:0010307	Stridor	2	LYRM4 CL E G H	57128	21365	OMIM:615595	Combined oxidative phosphorylation deficiency 19			4
HP:0002795	HP:0002789	Tachypnea	2	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8			10
HP:0002795	HP:0002878	Respiratory failure	2	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8	.		10
HP:0002795	HP:0002643	Neonatal respiratory distress	2	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH			5
HP:0002795	HP:0002643	Neonatal respiratory distress	2	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH			5
HP:0002795	HP:0002104	Apnea	2	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome			63
HP:0002795	HP:0002104	Apnea	2	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0002795	HP:0002791	Hypoventilation	2	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome	.		63
HP:0002795	HP:0002104	Apnea	2	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			63
HP:0002795	HP:0002104	Apnea	2	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			63
HP:0002795	HP:0002104	Apnea	2	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			63
HP:0002795	HP:0002104	Apnea	2	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome			63
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		2
HP:0002795	HP:0002878	Respiratory failure	2	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		2
HP:0002795	HP:0004878	Intercostal muscle weakness	2	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		2
HP:0002795	HP:0500165	Abnormal blood oxygen level	2	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy			2
HP:0002795	HP:0500164	Abnormal blood carbon dioxide level	2	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy			2
HP:0002795	HP:0002792	Reduced vital capacity	2	MAP3K20 CL E G H	51776	17797	OMIM:617760	Myopathy, centronuclear, 6, with fiber-type disproportion	.		2
HP:0002795	HP:0010307	Stridor	2	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2	.		11
HP:0002795	HP:0002094	Dyspnea	2	MAPT CL E G H	4137	6893	ORPHA:240103	Progressive supranuclear palsy-corticobasal syndrome			140
HP:0002795	HP:0002094	Dyspnea	2	MAPT CL E G H	4137	6893	ORPHA:240085	Progressive supranuclear palsy-parkinsonism syndrome			140
HP:0002795	HP:0002094	Dyspnea	2	MARS1 CL E G H	4141	6898	OMIM:615486	Interstitial lung and liver disease	.
HP:0002795	HP:0500165	Abnormal blood oxygen level	2	MARS1 CL E G H	4141	6898	OMIM:615486	Interstitial lung and liver disease
HP:0002795	HP:0002094	Dyspnea	2	MAT2A CL E G H	4144	6904	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			13
HP:0002795	HP:0002094	Dyspnea	2	MATR3 CL E G H	9782	6912	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		80
HP:0002795	HP:0002878	Respiratory failure	2	MATR3 CL E G H	9782	6912	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		80
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	MATR3 CL E G H	9782	6912	OMIM:606070	Amyotrophic lateral sclerosis 21	.		80
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	MATR3 CL E G H	9782	6912	ORPHA:600	Vocal cord and pharyngeal distal myopathy	HP:0040282 - Frequent		80
HP:0002795	HP:0002104	Apnea	2	MCCC1 CL E G H	56922	6936	OMIM:210200	3-Methylcrotonyl-CoA carboxylase 1 deficiency	.		81
HP:0002795	HP:0006510	Chronic pulmonary obstruction	2	MCIDAS CL E G H	345643	40050	OMIM:618695	CILIARY DYSKINESIA, PRIMARY, 42; CILD42			13
HP:0002795	HP:0032341	Reduced forced vital capacity	2	MCIDAS CL E G H	345643	40050	OMIM:618695	CILIARY DYSKINESIA, PRIMARY, 42; CILD42			13
HP:0002795	HP:0002643	Neonatal respiratory distress	2	MCIDAS CL E G H	345643	40050	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		13
HP:0002795	HP:0002878	Respiratory failure	2	MCIDAS CL E G H	345643	40050	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		13
HP:0002795	HP:0030828	Wheezing	2	MCIDAS CL E G H	345643	40050	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		13
HP:0002795	HP:0031245	Productive cough	2	MCIDAS CL E G H	345643	40050	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		13
HP:0002795	HP:0002104	Apnea	2	MCM3AP CL E G H	8888	6946	OMIM:618124	Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development			3
HP:0002795	HP:0002878	Respiratory failure	2	MCM4 CL E G H	4173	6947	OMIM:609981	Immunodeficiency 54	HP:0040283 - Occasional		69
HP:0002795	HP:0002643	Neonatal respiratory distress	2	MDFIC CL E G H	29969	28870	OMIM:620014
HP:0002795	HP:0002104	Apnea	2	MECP2 CL E G H	4204	6990	ORPHA:3095	Atypical Rett syndrome			950
HP:0002795	HP:0002789	Tachypnea	2	MECP2 CL E G H	4204	6990	ORPHA:3095	Atypical Rett syndrome			950
HP:0002795	HP:0002104	Apnea	2	MECP2 CL E G H	4204	6990	OMIM:300673	Encephalopathy, neonatal severe, due to mecp2 mutations	.		950
HP:0002795	HP:0002791	Hypoventilation	2	MECP2 CL E G H	4204	6990	OMIM:300673	Encephalopathy, neonatal severe, due to mecp2 mutations			950
HP:0002795	HP:0002104	Apnea	2	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13			950
HP:0002795	HP:0002104	Apnea	2	MECP2 CL E G H	4204	6990	OMIM:312750	Rett syndrome	.		950
HP:0002795	HP:0002883	Hyperventilation	2	MECP2 CL E G H	4204	6990	OMIM:312750	Rett syndrome			950
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1			228
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome			43
HP:0002795	HP:0002104	Apnea	2	MED27 CL E G H	9442	2377	OMIM:619286	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0002795	HP:0002204	Pulmonary embolism	2	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease	HP:0040283 - Occasional		281
HP:0002795	HP:0002878	Respiratory failure	2	MEG3 CL E G H	55384	14575	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040282 - Frequent		1
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional		1
HP:0002795	HP:0002878	Respiratory failure	2	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040282 - Frequent		1
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	MEGF10 CL E G H	84466	29634	OMIM:614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset	.		158
HP:0002795	HP:0002094	Dyspnea	2	MEGF10 CL E G H	84466	29634	OMIM:614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset			158
HP:0002795	HP:0002878	Respiratory failure	2	MEGF10 CL E G H	84466	29634	OMIM:614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset	.		158
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	MESP2 CL E G H	145873	29659	OMIM:608681	Spondylocostal dysostosis 2, autosomal recessive			45
HP:0002795	HP:0002094	Dyspnea	2	MFAP5 CL E G H	8076	29673	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			11
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	MFN2 CL E G H	9927	16877	OMIM:617087	Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B	HP:0040283 - Occasional		203
HP:0002795	HP:0002094	Dyspnea	2	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG			39
HP:0002795	HP:0002094	Dyspnea	2	MGME1 CL E G H	92667	16205	OMIM:615084	Mitochondrial DNA depletion syndrome 11	.		11
HP:0002795	HP:0002094	Dyspnea	2	MGME1 CL E G H	92667	16205	ORPHA:352447	Progressive external ophthalmoplegia-myopathy-emaciation syndrome	HP:0040282 - Frequent		11
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	MGME1 CL E G H	92667	16205	ORPHA:352447	Progressive external ophthalmoplegia-myopathy-emaciation syndrome	HP:0040283 - Occasional		11
HP:0002795	HP:0002878	Respiratory failure	2	MGME1 CL E G H	92667	16205	ORPHA:352447	Progressive external ophthalmoplegia-myopathy-emaciation syndrome	HP:0040282 - Frequent		11
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	MGP CL E G H	4256	7060	ORPHA:85202	Keutel syndrome			33
HP:0002795	HP:0002878	Respiratory failure	2	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0002795	HP:0010307	Stridor	2	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome	HP:0040283 - Occasional		57
HP:0002795	HP:0032342	Reduced forced expiratory volume in one second	2	MIF CL E G H	4282	7097	ORPHA:586	Cystic fibrosis			1
HP:0002795	HP:0002104	Apnea	2	MINPP1 CL E G H	9562	7102	OMIM:619527	PONTOCEREBELLAR HYPOPLASIA, TYPE 16; PCH16			3
HP:0002795	HP:0010307	Stridor	2	MIR140 CL E G H	406932	31527	OMIM:618618	SPONDYLOEPIPHYSEAL DYSPLASIA, NISHIMURA TYPE; SEDN
HP:0002795	HP:0002104	Apnea	2	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0002795	HP:0002791	Hypoventilation	2	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome	.		5
HP:0002795	HP:0002104	Apnea	2	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0002795	HP:0002791	Hypoventilation	2	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome	.
HP:0002795	HP:0002104	Apnea	2	MKS1 CL E G H	54903	7121	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		127
HP:0002795	HP:0002789	Tachypnea	2	MKS1 CL E G H	54903	7121	ORPHA:475	Joubert syndrome			127
HP:0002795	HP:0002104	Apnea	2	MKS1 CL E G H	54903	7121	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040281 - Very frequent		127
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	MLX CL E G H	6945	11645	ORPHA:3287	Takayasu arteritis
HP:0002795	HP:0002643	Neonatal respiratory distress	2	MLYCD CL E G H	23417	7150	OMIM:248360	Malonyl-CoA decarboxylase deficiency			80
HP:0002795	HP:0002094	Dyspnea	2	MMAA CL E G H	166785	18871	OMIM:251100	Methylmalonic aciduria, Cbla type			113
HP:0002795	HP:0002094	Dyspnea	2	MMAB CL E G H	326625	19331	OMIM:251110	Methylmalonic aciduria, Cblb type			127
HP:0002795	HP:0002094	Dyspnea	2	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC			101
HP:0002795	HP:0002204	Pulmonary embolism	2	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC	HP:0040284 - Very rare		101
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC			101
HP:0002795	HP:0006510	Chronic pulmonary obstruction	2	MMP1 CL E G H	4312	7155	OMIM:606963	Pulmonary disease, chronic obstructive	.		6
HP:0002795	HP:0002094	Dyspnea	2	MMUT CL E G H	4594	7526	OMIM:251000	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
HP:0002795	HP:0002094	Dyspnea	2	MMUT CL E G H	4594	7526	ORPHA:79312	Vitamin B12-unresponsive methylmalonic acidemia type mut-
HP:0002795	HP:0002094	Dyspnea	2	MMUT CL E G H	4594	7526	ORPHA:289916	Vitamin B12-unresponsive methylmalonic acidemia type mut0
HP:0002795	HP:0002791	Hypoventilation	2	MOGS CL E G H	7841	24862	OMIM:606056	Congenital disorder of glycosylation, type IIB	.		37
HP:0002795	HP:0002094	Dyspnea	2	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG			37
HP:0002795	HP:0002104	Apnea	2	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG	HP:0040283 - Occasional		37
HP:0002795	HP:0002791	Hypoventilation	2	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG	HP:0040283 - Occasional		37
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z	HP:0040284 - Very rare		8
HP:0002795	HP:0002094	Dyspnea	2	MPC1 CL E G H	51660	21606	OMIM:614741	Mitochondrial pyruvate carrier deficiency			6
HP:0002795	HP:0006510	Chronic pulmonary obstruction	2	MPEG1 CL E G H	219972	29619	OMIM:619223	IMMUNODEFICIENCY 77; IMD77
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	MPL CL E G H	4352	7217	ORPHA:71493	Familial thrombocytosis			97
HP:0002795	HP:0002204	Pulmonary embolism	2	MPL CL E G H	4352	7217	ORPHA:729	Polycythemia vera	HP:0040283 - Occasional		97
HP:0002795	HP:0025428	Bronchospasm	2	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		9
HP:0002795	HP:0002094	Dyspnea	2	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy			56
HP:0002795	HP:0033362	Recurrent coughing spasms	2	MPZ CL E G H	4359	7225	OMIM:607736	Charcot-Marie-Tooth disease, type 2J			134
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	MPZ CL E G H	4359	7225	OMIM:618184	Neuropathy, congenital hypomyelinating, 2	.		134
HP:0002795	HP:0002094	Dyspnea	2	MRPL3 CL E G H	11222	10379	OMIM:614582	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD9			13
HP:0002795	HP:0002104	Apnea	2	MRPS34 CL E G H	65993	16618	OMIM:617664	Combined oxidative phosphorylation deficiency 32			1
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	MS4A1 CL E G H	931	7315	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional		1
HP:0002795	HP:0002104	Apnea	2	MTFMT CL E G H	123263	29666	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		29
HP:0002795	HP:0002104	Apnea	2	MTHFR CL E G H	4524	7436	ORPHA:395	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	HP:0040283 - Occasional		183
HP:0002795	HP:0002204	Pulmonary embolism	2	MTHFR CL E G H	4524	7436	OMIM:188050	Thrombophiliavenous thromboembolism, included	.		183
HP:0002795	HP:0002643	Neonatal respiratory distress	2	MTM1 CL E G H	4534	7448	OMIM:310400	Myopathy, centronuclear, X-linked	.		185
HP:0002795	HP:0004887	Respiratory failure requiring assisted ventilation	2	MTM1 CL E G H	4534	7448	OMIM:310400	Myopathy, centronuclear, X-linked	.		185
HP:0002795	HP:0002094	Dyspnea	2	MTM1 CL E G H	4534	7448	ORPHA:596	X-linked centronuclear myopathy			185
HP:0002795	HP:0004887	Respiratory failure requiring assisted ventilation	2	MTM1 CL E G H	4534	7448	ORPHA:596	X-linked centronuclear myopathy	HP:0040282 - Frequent		185
HP:0002795	HP:0002643	Neonatal respiratory distress	2	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy			7
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040283 - Occasional		7
HP:0002795	HP:0002878	Respiratory failure	2	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia	HP:0040284 - Very rare		81
HP:0002795	HP:0002094	Dyspnea	2	MUC5B CL E G H	727897	7516	ORPHA:2032	Idiopathic pulmonary fibrosis			133
HP:0002795	HP:0030830	Crackles	2	MUC5B CL E G H	727897	7516	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent		133
HP:0002795	HP:0002094	Dyspnea	2	MUC5B CL E G H	727897	7516	OMIM:178500	Pulmonary fibrosis, idiopathic			133
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	MUC5B CL E G H	727897	7516	OMIM:178500	Pulmonary fibrosis, idiopathic			133
HP:0002795	HP:0045049	Abnormal DLCO	2	MUC5B CL E G H	727897	7516	OMIM:178500	Pulmonary fibrosis, idiopathic			133
HP:0002795	HP:4000007	Bronchoconstriction	2	MUC7 CL E G H	4589	7518	OMIM:600807	Asthma, susceptibility to	.		1
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	MUSK CL E G H	4593	7525	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		72
HP:0002795	HP:0002094	Dyspnea	2	MUSK CL E G H	4593	7525	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			72
HP:0002795	HP:0002792	Reduced vital capacity	2	MUSK CL E G H	4593	7525	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		72
HP:0002795	HP:0002878	Respiratory failure	2	MUSK CL E G H	4593	7525	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		72
HP:0002795	HP:0002094	Dyspnea	2	MYBPC3 CL E G H	4607	7551	OMIM:115197	Cardiomyopathy, familial hypertrophic, 4	.		1143
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	MYBPC3 CL E G H	4607	7551	OMIM:615396	Left ventricular noncompaction 10			1143
HP:0002795	HP:0002643	Neonatal respiratory distress	2	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy			19
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040283 - Occasional		19
HP:0002795	HP:0002094	Dyspnea	2	MYH11 CL E G H	4629	7569	ORPHA:229	Familial aortic dissection			418
HP:0002795	HP:0002094	Dyspnea	2	MYH11 CL E G H	4629	7569	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			418
HP:0002795	HP:0004887	Respiratory failure requiring assisted ventilation	2	MYH11 CL E G H	4629	7569	OMIM:619351	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2; MMIHS2			418
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	MYH11 CL E G H	4629	7569	OMIM:619351	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2; MMIHS2			418
HP:0002795	HP:0002643	Neonatal respiratory distress	2	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040282 - Frequent		166
HP:0002795	HP:0002094	Dyspnea	2	MYH6 CL E G H	4624	7576	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional		452
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	MYH6 CL E G H	4624	7576	ORPHA:99103	Atrial septal defect, ostium secundum type			452
HP:0002795	HP:0005317	Increased pulmonary vascular resistance	2	MYH6 CL E G H	4624	7576	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040284 - Very rare		452
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	MYH7 CL E G H	4625	7577	OMIM:613426	Cardiomyopathy, dilated, 1S			1269
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	MYH7 CL E G H	4625	7577	ORPHA:324604	Classic multiminicore myopathy	HP:0040282 - Frequent		1269
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	MYH7 CL E G H	4625	7577	ORPHA:324604	Classic multiminicore myopathy			1269
HP:0002795	HP:0002791	Hypoventilation	2	MYH7 CL E G H	4625	7577	ORPHA:324604	Classic multiminicore myopathy			1269
HP:0002795	HP:0006510	Chronic pulmonary obstruction	2	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy	HP:0040283 - Occasional		1269
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	MYH7 CL E G H	4625	7577	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.		1269
HP:0002795	HP:0032341	Reduced forced vital capacity	2	MYH7 CL E G H	4625	7577	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.		1269
HP:0002795	HP:0002792	Reduced vital capacity	2	MYH7 CL E G H	4625	7577	OMIM:608358	Myopathy, myosin storage	.		1269
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive			1269
HP:0002795	HP:0002094	Dyspnea	2	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive			1269
HP:0002795	HP:0002104	Apnea	2	MYL1 CL E G H	4632	7582	OMIM:618414	Myopathy, congenital, with fast-twitch (type ii) fiber atrophy
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	MYL1 CL E G H	4632	7582	OMIM:618414	Myopathy, congenital, with fast-twitch (type ii) fiber atrophy	.
HP:0002795	HP:0002878	Respiratory failure	2	MYL1 CL E G H	4632	7582	OMIM:618414	Myopathy, congenital, with fast-twitch (type ii) fiber atrophy
HP:0002795	HP:0002094	Dyspnea	2	MYL2 CL E G H	4633	7583	OMIM:608758	Cardiomyopathy, familial hypertrophic, 10	.		131
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		131
HP:0002795	HP:0002878	Respiratory failure	2	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		131
HP:0002795	HP:0004878	Intercostal muscle weakness	2	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		131
HP:0002795	HP:0500165	Abnormal blood oxygen level	2	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy			131
HP:0002795	HP:0500164	Abnormal blood carbon dioxide level	2	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy			131
HP:0002795	HP:0005943	Respiratory arrest	2	MYL2 CL E G H	4633	7583	OMIM:619424	MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12			131
HP:0002795	HP:0002094	Dyspnea	2	MYL3 CL E G H	4634	7584	OMIM:608751	Cardiomyopathy, familial hypertrophic, 8			95
HP:0002795	HP:0002094	Dyspnea	2	MYLK CL E G H	4638	7590	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			326
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome			5
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	MYO1H CL E G H	283446	13879	OMIM:619482	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2
HP:0002795	HP:0002104	Apnea	2	MYO1H CL E G H	283446	13879	OMIM:619482	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2
HP:0002795	HP:0002791	Hypoventilation	2	MYO1H CL E G H	283446	13879	OMIM:619482	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2
HP:0002795	HP:0040213	Hypopnea	2	MYO1H CL E G H	283446	13879	OMIM:619482	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2
HP:0002795	HP:0002104	Apnea	2	MYO9A CL E G H	4649	7608	OMIM:618198	Myasthenic syndrome, congenital, 24, presynaptic	.
HP:0002795	HP:0002094	Dyspnea	2	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes
HP:0002795	HP:0002104	Apnea	2	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes
HP:0002795	HP:0005943	Respiratory arrest	2	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare
HP:0002795	HP:0010307	Stridor	2	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional
HP:0002795	HP:0002792	Reduced vital capacity	2	MYOT CL E G H	9499	12399	ORPHA:266	Autosomal dominant limb-girdle muscular dystrophy type 1A	HP:0040283 - Occasional		75
HP:0002795	HP:0002878	Respiratory failure	2	MYOT CL E G H	9499	12399	ORPHA:266	Autosomal dominant limb-girdle muscular dystrophy type 1A	HP:0040283 - Occasional		75
HP:0002795	HP:0012496	Reduced maximal inspiratory pressure	2	MYOT CL E G H	9499	12399	ORPHA:266	Autosomal dominant limb-girdle muscular dystrophy type 1A	HP:0040283 - Occasional		75
HP:0002795	HP:0002094	Dyspnea	2	MYOZ2 CL E G H	51778	1330	OMIM:613838	Cardiomyopathy, familial hypertrophic, 16			81
HP:0002795	HP:0002791	Hypoventilation	2	MYPN CL E G H	84665	23246	ORPHA:171881	Cap myopathy			217
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		217
HP:0002795	HP:0002792	Reduced vital capacity	2	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		217
HP:0002795	HP:0002094	Dyspnea	2	MYPN CL E G H	84665	23246	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040283 - Occasional		217
HP:0002795	HP:0030950	Pulmonary venous hypertension	2	MYPN CL E G H	84665	23246	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040282 - Frequent		217
HP:0002795	HP:0002792	Reduced vital capacity	2	MYPN CL E G H	84665	23246	OMIM:617336	Nemaline myopathy 11, autosomal recessive	HP:0040283 - Occasional		217
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0002795	HP:0002104	Apnea	2	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0002795	HP:0002094	Dyspnea	2	NABP1 CL E G H	64859	26232	ORPHA:520	Acute promyelocytic leukemia
HP:0002795	HP:0031245	Productive cough	2	NABP1 CL E G H	64859	26232	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional
HP:0002795	HP:0002104	Apnea	2	NACC1 CL E G H	112939	20967	OMIM:617393	Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination			1
HP:0002795	HP:0002104	Apnea	2	NACC1 CL E G H	112939	20967	ORPHA:500545	Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract			1
HP:0002795	HP:0002104	Apnea	2	NADK2 CL E G H	133686	26404	ORPHA:431361	Progressive encephalopathy with leukodystrophy due to DECR deficiency			14
HP:0002795	HP:0002094	Dyspnea	2	NAGS CL E G H	162417	17996	ORPHA:927	Hyperammonemia due to N-acetylglutamate synthase deficiency			36
HP:0002795	HP:0002094	Dyspnea	2	NAGS CL E G H	162417	17996	OMIM:237310	N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY			36
HP:0002795	HP:0002643	Neonatal respiratory distress	2	NALCN CL E G H	259232	19082	OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay			48
HP:0002795	HP:0002104	Apnea	2	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome			48
HP:0002795	HP:0002878	Respiratory failure	2	NAXE CL E G H	128240	18453	OMIM:617186	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1	.		9
HP:0002795	HP:0046507	Bradypnea	2	NAXE CL E G H	128240	18453	OMIM:617186	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1			9
HP:0002795	HP:0002878	Respiratory failure	2	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome	HP:0040283 - Occasional		706
HP:0002795	HP:0006510	Chronic pulmonary obstruction	2	NCF1 CL E G H	653361	7660	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent		13
HP:0002795	HP:0006510	Chronic pulmonary obstruction	2	NCF2 CL E G H	4688	7661	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent		67
HP:0002795	HP:0006510	Chronic pulmonary obstruction	2	NCF4 CL E G H	4689	7662	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent		37
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	ND1 CL E G H	4535	7455	ORPHA:550	MELAS
HP:0002795	HP:0002094	Dyspnea	2	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0002795	HP:0002104	Apnea	2	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0002795	HP:0002883	Hyperventilation	2	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0002795	HP:0002094	Dyspnea	2	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0002795	HP:0002104	Apnea	2	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0002795	HP:0002883	Hyperventilation	2	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0002795	HP:0002094	Dyspnea	2	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0002795	HP:0002104	Apnea	2	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0002795	HP:0002883	Hyperventilation	2	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	ND4 CL E G H	4538	7459	ORPHA:550	MELAS
HP:0002795	HP:0002094	Dyspnea	2	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0002795	HP:0002104	Apnea	2	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0002795	HP:0002883	Hyperventilation	2	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	ND5 CL E G H	4540	7461	ORPHA:550	MELAS
HP:0002795	HP:0002094	Dyspnea	2	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0002795	HP:0002104	Apnea	2	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0002795	HP:0002883	Hyperventilation	2	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	ND6 CL E G H	4541	7462	ORPHA:550	MELAS
HP:0002795	HP:0002094	Dyspnea	2	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0002795	HP:0002104	Apnea	2	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0002795	HP:0002883	Hyperventilation	2	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0002795	HP:0002094	Dyspnea	2	NDE1 CL E G H	54820	17619	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type			96
HP:0002795	HP:0002104	Apnea	2	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
HP:0002795	HP:0002104	Apnea	2	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
HP:0002795	HP:0002104	Apnea	2	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
HP:0002795	HP:0002104	Apnea	2	NDUFA10 CL E G H	4705	7684	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		91
HP:0002795	HP:0002104	Apnea	2	NDUFA11 CL E G H	126328	20371	OMIM:618236	Mitochondrial complex I deficiency, nuclear type 14	.		32
HP:0002795	HP:0002104	Apnea	2	NDUFA12 CL E G H	55967	23987	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		7
HP:0002795	HP:0002104	Apnea	2	NDUFA13 CL E G H	51079	17194	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		3
HP:0002795	HP:0002104	Apnea	2	NDUFA2 CL E G H	4695	7685	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		19
HP:0002795	HP:0002104	Apnea	2	NDUFA2 CL E G H	4695	7685	OMIM:618235	Mitochondrial complex I deficiency, nuclear type 13	.		19
HP:0002795	HP:0002104	Apnea	2	NDUFA4 CL E G H	4697	7687	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		4
HP:0002795	HP:0002104	Apnea	2	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33			1
HP:0002795	HP:0002094	Dyspnea	2	NDUFA8 CL E G H	4702	7692	OMIM:619272	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	NDUFA8 CL E G H	4702	7692	OMIM:619272	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0002795	HP:0002104	Apnea	2	NDUFA9 CL E G H	4704	7693	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		27
HP:0002795	HP:0002104	Apnea	2	NDUFAF2 CL E G H	91942	28086	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		26
HP:0002795	HP:0002104	Apnea	2	NDUFAF2 CL E G H	91942	28086	OMIM:618233	Mitochondrial complex I deficiency, nuclear type 10	.		26
HP:0002795	HP:0002791	Hypoventilation	2	NDUFAF2 CL E G H	91942	28086	OMIM:618233	Mitochondrial complex I deficiency, nuclear type 10			26
HP:0002795	HP:0002878	Respiratory failure	2	NDUFAF2 CL E G H	91942	28086	OMIM:618233	Mitochondrial complex I deficiency, nuclear type 10	.		26
HP:0002795	HP:0002094	Dyspnea	2	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy			31
HP:0002795	HP:0002104	Apnea	2	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		31
HP:0002795	HP:0002791	Hypoventilation	2	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy			31
HP:0002795	HP:0002878	Respiratory failure	2	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		31
HP:0002795	HP:0002878	Respiratory failure	2	NDUFAF3 CL E G H	25915	29918	OMIM:618240	Mitochondrial complex I deficiency, nuclear type 18	.		31
HP:0002795	HP:0002104	Apnea	2	NDUFAF5 CL E G H	79133	15899	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		34
HP:0002795	HP:0045049	Abnormal DLCO	2	NDUFAF6 CL E G H	137682	28625	OMIM:618913	FANCONI RENOTUBULAR SYNDROME 5; FRTS5			39
HP:0002795	HP:0002104	Apnea	2	NDUFAF6 CL E G H	137682	28625	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		39
HP:0002795	HP:0004887	Respiratory failure requiring assisted ventilation	2	NDUFAF8 CL E G H	284184	33551	OMIM:618776	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34; MC1DN34
HP:0002795	HP:0002643	Neonatal respiratory distress	2	NDUFB10 CL E G H	4716	7696	OMIM:619003	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	NDUFB10 CL E G H	4716	7696	OMIM:619003	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35
HP:0002795	HP:0002094	Dyspnea	2	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional		3
HP:0002795	HP:0002878	Respiratory failure	2	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional		3
HP:0002795	HP:0002878	Respiratory failure	2	NDUFB11 CL E G H	54539	20372	OMIM:301021	Mitochondrial complex I deficiency, nuclear type 30	.		3
HP:0002795	HP:0002094	Dyspnea	2	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy
HP:0002795	HP:0002104	Apnea	2	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent
HP:0002795	HP:0002791	Hypoventilation	2	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy
HP:0002795	HP:0002878	Respiratory failure	2	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent
HP:0002795	HP:0002104	Apnea	2	NDUFS1 CL E G H	4719	7707	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		81
HP:0002795	HP:0002104	Apnea	2	NDUFS1 CL E G H	4719	7707	OMIM:618226	Mitochondrial complex I deficiency, nuclear type 5	.		81
HP:0002795	HP:0002094	Dyspnea	2	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy			65
HP:0002795	HP:0002104	Apnea	2	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		65
HP:0002795	HP:0002791	Hypoventilation	2	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy			65
HP:0002795	HP:0002878	Respiratory failure	2	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		65
HP:0002795	HP:0002104	Apnea	2	NDUFS2 CL E G H	4720	7708	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		65
HP:0002795	HP:0002104	Apnea	2	NDUFS3 CL E G H	4722	7710	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		22
HP:0002795	HP:0002104	Apnea	2	NDUFS4 CL E G H	4724	7711	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		27
HP:0002795	HP:0002104	Apnea	2	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1			27
HP:0002795	HP:0002878	Respiratory failure	2	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1			27
HP:0002795	HP:0002791	Hypoventilation	2	NDUFS6 CL E G H	4726	7713	OMIM:618232	Mitochondrial complex I deficiency, nuclear type 9	.		21
HP:0002795	HP:0002104	Apnea	2	NDUFS7 CL E G H	374291	7714	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		38
HP:0002795	HP:0002104	Apnea	2	NDUFS8 CL E G H	4728	7715	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		42
HP:0002795	HP:0002104	Apnea	2	NDUFS8 CL E G H	4728	7715	OMIM:618222	Mitochondrial complex I deficiency, nuclear type 2	.		42
HP:0002795	HP:0500164	Abnormal blood carbon dioxide level	2	NDUFS8 CL E G H	4728	7715	OMIM:618222	Mitochondrial complex I deficiency, nuclear type 2			42
HP:0002795	HP:0002104	Apnea	2	NDUFV1 CL E G H	4723	7716	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		74
HP:0002795	HP:0002104	Apnea	2	NDUFV1 CL E G H	4723	7716	OMIM:618225	Mitochondrial complex I deficiency, nuclear type 4	.		74
HP:0002795	HP:0002104	Apnea	2	NDUFV2 CL E G H	4729	7717	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		27
HP:0002795	HP:0002878	Respiratory failure	2	NEB CL E G H	4703	7720	OMIM:619334	ARTHROGRYPOSIS MULTIPLEX CONGENITA 6; AMC6			745
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		745
HP:0002795	HP:0002792	Reduced vital capacity	2	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		745
HP:0002795	HP:0002094	Dyspnea	2	NEB CL E G H	4703	7720	ORPHA:399103	Distal nebulin myopathy			745
HP:0002795	HP:0002878	Respiratory failure	2	NEB CL E G H	4703	7720	ORPHA:171433	Intermediate nemaline myopathy	HP:0040282 - Frequent		745
HP:0002795	HP:0002104	Apnea	2	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive	.		745
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive	.		745
HP:0002795	HP:0002878	Respiratory failure	2	NEB CL E G H	4703	7720	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent		745
HP:0002795	HP:0002791	Hypoventilation	2	NEB CL E G H	4703	7720	ORPHA:171436	Typical nemaline myopathy			745
HP:0002795	HP:0002094	Dyspnea	2	NEFH CL E G H	4744	7737	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		24
HP:0002795	HP:0002878	Respiratory failure	2	NEFH CL E G H	4744	7737	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		24
HP:0002795	HP:0002104	Apnea	2	NEFH CL E G H	4744	7737	OMIM:105400	Amyotrophic lateral sclerosis 1			24
HP:0002795	HP:0002094	Dyspnea	2	NEK1 CL E G H	4750	7744	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		101
HP:0002795	HP:0002878	Respiratory failure	2	NEK1 CL E G H	4750	7744	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		101
HP:0002795	HP:0002104	Apnea	2	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2	HP:0040283 - Occasional		101
HP:0002795	HP:0002789	Tachypnea	2	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2	HP:0040283 - Occasional		101
HP:0002795	HP:0002643	Neonatal respiratory distress	2	NEK10 CL E G H	152110	18592	OMIM:618781	CILIARY DYSKINESIA, PRIMARY, 44; CILD44
HP:0002795	HP:0032341	Reduced forced vital capacity	2	NEK10 CL E G H	152110	18592	OMIM:618781	CILIARY DYSKINESIA, PRIMARY, 44; CILD44
HP:0002795	HP:0032342	Reduced forced expiratory volume in one second	2	NEK10 CL E G H	152110	18592	OMIM:618781	CILIARY DYSKINESIA, PRIMARY, 44; CILD44
HP:0002795	HP:0002643	Neonatal respiratory distress	2	NEK10 CL E G H	152110	18592	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0002795	HP:0002878	Respiratory failure	2	NEK10 CL E G H	152110	18592	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0002795	HP:0030828	Wheezing	2	NEK10 CL E G H	152110	18592	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0002795	HP:0031245	Productive cough	2	NEK10 CL E G H	152110	18592	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0002795	HP:0002094	Dyspnea	2	NEMF CL E G H	9147	10663	OMIM:619099	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND AXONAL PERIPHERAL NEUROPATHY; IDDSAPN			1
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome			1952
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome			40
HP:0002795	HP:0002104	Apnea	2	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome	.		40
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0002795	HP:0010307	Stridor	2	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	NFKB1 CL E G H	4790	7794	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional		7
HP:0002795	HP:0006510	Chronic pulmonary obstruction	2	NFKB1 CL E G H	4790	7794	OMIM:616576	IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12			7
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	NFKB2 CL E G H	4791	7795	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional		11
HP:0002795	HP:0002878	Respiratory failure	2	NFS1 CL E G H	9054	15910	OMIM:619386	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD52			5
HP:0002795	HP:0002878	Respiratory failure	2	NFU1 CL E G H	27247	16287	OMIM:605711	Multiple mitochondrial dysfunctions syndrome 1	.		34
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	NFU1 CL E G H	27247	16287	OMIM:605711	Multiple mitochondrial dysfunctions syndrome 1			34
HP:0002795	HP:0002104	Apnea	2	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome			32
HP:0002795	HP:0002094	Dyspnea	2	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation			32
HP:0002795	HP:0002104	Apnea	2	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation			32
HP:0002795	HP:0002789	Tachypnea	2	NHLRC2 CL E G H	374354	24731	OMIM:618278	Fibrosis, neurodegeneration, and cerebral angiomatosis	.
HP:0002795	HP:0002878	Respiratory failure	2	NHLRC2 CL E G H	374354	24731	OMIM:618278	Fibrosis, neurodegeneration, and cerebral angiomatosis
HP:0002795	HP:0002094	Dyspnea	2	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome			51
HP:0002795	HP:0002643	Neonatal respiratory distress	2	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome	HP:0040282 - Frequent		51
HP:0002795	HP:0002878	Respiratory failure	2	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome	HP:0040284 - Very rare		51
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome			51
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	NKX2-1 CL E G H	7080	11825	OMIM:610978	Choreoathetosis, hypothyroidism, and neonatal respiratory distress			51
HP:0002795	HP:0002094	Dyspnea	2	NKX2-1 CL E G H	7080	11825	OMIM:610978	Choreoathetosis, hypothyroidism, and neonatal respiratory distress			51
HP:0002795	HP:0002643	Neonatal respiratory distress	2	NKX2-1 CL E G H	7080	11825	OMIM:610978	Choreoathetosis, hypothyroidism, and neonatal respiratory distress	.		51
HP:0002795	HP:0002789	Tachypnea	2	NKX2-1 CL E G H	7080	11825	OMIM:610978	Choreoathetosis, hypothyroidism, and neonatal respiratory distress			51
HP:0002795	HP:0500165	Abnormal blood oxygen level	2	NKX2-1 CL E G H	7080	11825	OMIM:610978	Choreoathetosis, hypothyroidism, and neonatal respiratory distress			51
HP:0002795	HP:0030828	Wheezing	2	NKX2-1 CL E G H	7080	11825	OMIM:610978	Choreoathetosis, hypothyroidism, and neonatal respiratory distress			51
HP:0002795	HP:0030830	Crackles	2	NKX2-1 CL E G H	7080	11825	OMIM:610978	Choreoathetosis, hypothyroidism, and neonatal respiratory distress			51
HP:0002795	HP:0002094	Dyspnea	2	NKX2-5 CL E G H	1482	2488	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional		90
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	NKX2-5 CL E G H	1482	2488	ORPHA:99103	Atrial septal defect, ostium secundum type			90
HP:0002795	HP:0005317	Increased pulmonary vascular resistance	2	NKX2-5 CL E G H	1482	2488	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040284 - Very rare		90
HP:0002795	HP:0002094	Dyspnea	2	NKX2-5 CL E G H	1482	2488	ORPHA:871	Familial progressive cardiac conduction defect	HP:0040282 - Frequent		90
HP:0002795	HP:0002789	Tachypnea	2	NKX2-6 CL E G H	137814	32940	ORPHA:3384	Truncus arteriosus	HP:0040282 - Frequent		3
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	NLRP3 CL E G H	114548	16400	ORPHA:575	Muckle-Wells syndrome	HP:0040283 - Occasional		217
HP:0002795	HP:0012262	Abnormal ciliary motility	2	NME8 CL E G H	51314	16473	OMIM:610852	Ciliary dyskinesia, primary, 6	.		50
HP:0002795	HP:0002643	Neonatal respiratory distress	2	NME8 CL E G H	51314	16473	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		50
HP:0002795	HP:0002878	Respiratory failure	2	NME8 CL E G H	51314	16473	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		50
HP:0002795	HP:0030828	Wheezing	2	NME8 CL E G H	51314	16473	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		50
HP:0002795	HP:0031245	Productive cough	2	NME8 CL E G H	51314	16473	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		50
HP:0002795	HP:0002094	Dyspnea	2	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome	HP:0040283 - Occasional		187
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome			187
HP:0002795	HP:0002104	Apnea	2	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly			45
HP:0002795	HP:0002104	Apnea	2	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly			45
HP:0002795	HP:0002104	Apnea	2	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			45
HP:0002795	HP:0002104	Apnea	2	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly			45
HP:0002795	HP:0002104	Apnea	2	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome			10
HP:0002795	HP:0030828	Wheezing	2	NOS1 CL E G H	4842	7872	ORPHA:930	Idiopathic achalasia	HP:0040283 - Occasional		2
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome			452
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5			452
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040283 - Occasional
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040282 - Frequent
HP:0002795	HP:0002104	Apnea	2	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0002795	HP:0002791	Hypoventilation	2	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome	.		1
HP:0002795	HP:0002643	Neonatal respiratory distress	2	NPC2 CL E G H	10577	14537	OMIM:607625	Niemann-pick disease, type C2			33
HP:0002795	HP:0002878	Respiratory failure	2	NPC2 CL E G H	10577	14537	OMIM:607625	Niemann-pick disease, type C2	.		33
HP:0002795	HP:0002104	Apnea	2	NPHP1 CL E G H	4867	7905	ORPHA:220497	Joubert syndrome with renal defect	HP:0040281 - Very frequent		85
HP:0002795	HP:0002643	Neonatal respiratory distress	2	NPHS1 CL E G H	4868	7908	OMIM:256300	Nephrotic syndrome, type 1	.		241
HP:0002795	HP:0002094	Dyspnea	2	NPM1 CL E G H	4869	7910	ORPHA:520	Acute promyelocytic leukemia			12
HP:0002795	HP:0031245	Productive cough	2	NPM1 CL E G H	4869	7910	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional		12
HP:0002795	HP:0002094	Dyspnea	2	NPPA CL E G H	4878	7939	ORPHA:1344	Atrial standstill	HP:0040282 - Frequent		13
HP:0002795	HP:0002094	Dyspnea	2	NPPA CL E G H	4878	7939	OMIM:615745	Atrial standstill 2			13
HP:0002795	HP:0002643	Neonatal respiratory distress	2	NR1H4 CL E G H	9971	7967	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040283 - Occasional		14
HP:0002795	HP:0002883	Hyperventilation	2	NRXN1 CL E G H	9378	8008	OMIM:614325	Pitt-Hopkins-Like syndrome 2	.		470
HP:0002795	HP:0002643	Neonatal respiratory distress	2	NSF CL E G H	4905	8016	OMIM:619340	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 96; DEE96
HP:0002795	HP:0002104	Apnea	2	NTNG1 CL E G H	22854	23319	ORPHA:3095	Atypical Rett syndrome			1
HP:0002795	HP:0002789	Tachypnea	2	NTNG1 CL E G H	22854	23319	ORPHA:3095	Atypical Rett syndrome			1
HP:0002795	HP:0002094	Dyspnea	2	NUMA1 CL E G H	4926	8059	ORPHA:520	Acute promyelocytic leukemia
HP:0002795	HP:0031245	Productive cough	2	NUMA1 CL E G H	4926	8059	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional
HP:0002795	HP:0002878	Respiratory failure	2	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF			4
HP:0002795	HP:0002094	Dyspnea	2	NUP214 CL E G H	8021	8064	OMIM:618426	Encephalopathy, acute, infection-induced, susceptibility to, 9			1
HP:0002795	HP:0002878	Respiratory failure	2	NUTM2B-AS1 CL E G H	101060691	51204	OMIM:618637	OCULOPHARYNGEAL MYOPATHY WITH LEUKOENCEPHALOPATHY 1; OPML1
HP:0002795	HP:0002104	Apnea	2	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			121
HP:0002795	HP:0002104	Apnea	2	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			121
HP:0002795	HP:0002104	Apnea	2	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			121
HP:0002795	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	2	ODAD1 CL E G H	93233	26560	OMIM:615067	Ciliary dyskinesia, primary, 20	.
HP:0002795	HP:0012262	Abnormal ciliary motility	2	ODAD1 CL E G H	93233	26560	OMIM:615067	Ciliary dyskinesia, primary, 20
HP:0002795	HP:0031417	Rhinorrhea	2	ODAD1 CL E G H	93233	26560	OMIM:615067	Ciliary dyskinesia, primary, 20	.
HP:0002795	HP:0002643	Neonatal respiratory distress	2	ODAD1 CL E G H	93233	26560	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0002795	HP:0002878	Respiratory failure	2	ODAD1 CL E G H	93233	26560	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0002795	HP:0030828	Wheezing	2	ODAD1 CL E G H	93233	26560	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0002795	HP:0031245	Productive cough	2	ODAD1 CL E G H	93233	26560	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0002795	HP:0002643	Neonatal respiratory distress	2	ODAD2 CL E G H	55130	25583	OMIM:615451	CILIARY DYSKINESIA, PRIMARY, 23; CILD23
HP:0002795	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	2	ODAD2 CL E G H	55130	25583	OMIM:615451	CILIARY DYSKINESIA, PRIMARY, 23; CILD23
HP:0002795	HP:0012262	Abnormal ciliary motility	2	ODAD2 CL E G H	55130	25583	OMIM:615451	CILIARY DYSKINESIA, PRIMARY, 23; CILD23
HP:0002795	HP:0031245	Productive cough	2	ODAD2 CL E G H	55130	25583	OMIM:615451	CILIARY DYSKINESIA, PRIMARY, 23; CILD23
HP:0002795	HP:0002643	Neonatal respiratory distress	2	ODAD2 CL E G H	55130	25583	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0002795	HP:0002878	Respiratory failure	2	ODAD2 CL E G H	55130	25583	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0002795	HP:0030828	Wheezing	2	ODAD2 CL E G H	55130	25583	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0002795	HP:0031245	Productive cough	2	ODAD2 CL E G H	55130	25583	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0002795	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	2	ODAD3 CL E G H	115948	28303	OMIM:616037	Ciliary dyskinesia, primary, 30	.
HP:0002795	HP:0012262	Abnormal ciliary motility	2	ODAD3 CL E G H	115948	28303	OMIM:616037	Ciliary dyskinesia, primary, 30
HP:0002795	HP:0002643	Neonatal respiratory distress	2	ODAD3 CL E G H	115948	28303	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0002795	HP:0002878	Respiratory failure	2	ODAD3 CL E G H	115948	28303	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0002795	HP:0030828	Wheezing	2	ODAD3 CL E G H	115948	28303	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0002795	HP:0031245	Productive cough	2	ODAD3 CL E G H	115948	28303	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0002795	HP:0002643	Neonatal respiratory distress	2	ODAD4 CL E G H	83538	25280	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0002795	HP:0002878	Respiratory failure	2	ODAD4 CL E G H	83538	25280	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0002795	HP:0030828	Wheezing	2	ODAD4 CL E G H	83538	25280	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0002795	HP:0031245	Productive cough	2	ODAD4 CL E G H	83538	25280	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0002795	HP:0002104	Apnea	2	OFD1 CL E G H	8481	2567	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional		201
HP:0002795	HP:0002789	Tachypnea	2	OFD1 CL E G H	8481	2567	ORPHA:2754	Orofaciodigital syndrome type 6			201
HP:0002795	HP:0002643	Neonatal respiratory distress	2	OFD1 CL E G H	8481	2567	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		201
HP:0002795	HP:0002878	Respiratory failure	2	OFD1 CL E G H	8481	2567	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		201
HP:0002795	HP:0030828	Wheezing	2	OFD1 CL E G H	8481	2567	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		201
HP:0002795	HP:0031245	Productive cough	2	OFD1 CL E G H	8481	2567	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		201
HP:0002795	HP:0002104	Apnea	2	OPA1 CL E G H	4976	8140	OMIM:616896	MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE); MTDPS14			214
HP:0002795	HP:0002094	Dyspnea	2	OPTN CL E G H	10133	17142	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		62
HP:0002795	HP:0002878	Respiratory failure	2	OPTN CL E G H	10133	17142	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		62
HP:0002795	HP:0002878	Respiratory failure	2	OPTN CL E G H	10133	17142	OMIM:613435	Amyotrophic lateral sclerosis 12			62
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	ORAI1 CL E G H	84876	25896	OMIM:612782	Immunodeficiency 9	.		19
HP:0002795	HP:0002094	Dyspnea	2	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent		53
HP:0002795	HP:0002878	Respiratory failure	2	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent		53
HP:0002795	HP:0002094	Dyspnea	2	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1			53
HP:0002795	HP:0002094	Dyspnea	2	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent		21
HP:0002795	HP:0002878	Respiratory failure	2	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent		21
HP:0002795	HP:0002094	Dyspnea	2	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent		39
HP:0002795	HP:0002878	Respiratory failure	2	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent		39
HP:0002795	HP:0002094	Dyspnea	2	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3	.		39
HP:0002795	HP:0002878	Respiratory failure	2	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5	.		73
HP:0002795	HP:0002094	Dyspnea	2	OTX2 CL E G H	5015	8522	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome			41
HP:0002795	HP:0002789	Tachypnea	2	OXCT1 CL E G H	5019	8527	OMIM:245050	Succinyl CoA:3-oxoacid CoA transferase deficiency	.		52
HP:0002795	HP:0002104	Apnea	2	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
HP:0002795	HP:0002791	Hypoventilation	2	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities	.
HP:0002795	HP:0002789	Tachypnea	2	PAM16 CL E G H	51025	29679	OMIM:613320	Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type	.		1
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	PAM16 CL E G H	51025	29679	OMIM:613320	Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type			1
HP:0002795	HP:0002094	Dyspnea	2	PARN CL E G H	5073	8609	ORPHA:2032	Idiopathic pulmonary fibrosis			26
HP:0002795	HP:0030830	Crackles	2	PARN CL E G H	5073	8609	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent		26
HP:0002795	HP:0045049	Abnormal DLCO	2	PARN CL E G H	5073	8609	OMIM:616371	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4; PFBMFT4			26
HP:0002795	HP:0032341	Reduced forced vital capacity	2	PARN CL E G H	5073	8609	OMIM:616371	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4; PFBMFT4			26
HP:0002795	HP:0032342	Reduced forced expiratory volume in one second	2	PARN CL E G H	5073	8609	OMIM:616371	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4; PFBMFT4			26
HP:0002795	HP:0002643	Neonatal respiratory distress	2	PAX2 CL E G H	5076	8616	ORPHA:97362	Renal hypoplasia, bilateral			39
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	PAX7 CL E G H	5081	8621	OMIM:618578	MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO
HP:0002795	HP:0010307	Stridor	2	PAX8 CL E G H	7849	8622	OMIM:218700	Hypothyroidism, congenital, nongoitrous, 2	.		63
HP:0002795	HP:0002643	Neonatal respiratory distress	2	PBX1 CL E G H	5087	8632	ORPHA:97362	Renal hypoplasia, bilateral			3
HP:0002795	HP:0002104	Apnea	2	PCCA CL E G H	5095	8653	OMIM:606054	Propionic acidemia	.		96
HP:0002795	HP:0002789	Tachypnea	2	PCCA CL E G H	5095	8653	OMIM:606054	Propionic acidemia	.		96
HP:0002795	HP:0002104	Apnea	2	PCCB CL E G H	5096	8654	OMIM:606054	Propionic acidemia	.		92
HP:0002795	HP:0002789	Tachypnea	2	PCCB CL E G H	5096	8654	OMIM:606054	Propionic acidemia	.		92
HP:0002795	HP:0002104	Apnea	2	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome
HP:0002795	HP:0002104	Apnea	2	PCK1 CL E G H	5105	8724	OMIM:261680	Phosphoenolpyruvate carboxykinase deficiency, cytosolic	.		53
HP:0002795	HP:0002094	Dyspnea	2	PCSK9 CL E G H	255738	20001	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent		178
HP:0002795	HP:0002104	Apnea	2	PDE6D CL E G H	5147	8788	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional		1
HP:0002795	HP:0002789	Tachypnea	2	PDE6D CL E G H	5147	8788	ORPHA:2754	Orofaciodigital syndrome type 6			1
HP:0002795	HP:0002104	Apnea	2	PDHA1 CL E G H	5160	8806	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		88
HP:0002795	HP:0002104	Apnea	2	PDHA1 CL E G H	5160	8806	OMIM:312170	Pyruvate dehydrogenase e1-alpha deficiency			88
HP:0002795	HP:0002643	Neonatal respiratory distress	2	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040283 - Occasional		88
HP:0002795	HP:0002878	Respiratory failure	2	PDHA1 CL E G H	5160	8806	OMIM:312170	Pyruvate dehydrogenase e1-alpha deficiency			88
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	PDSS1 CL E G H	23590	17759	OMIM:614651	Coenzyme Q10 deficiency, primary, 2			40
HP:0002795	HP:0002104	Apnea	2	PET100 CL E G H	100131801	40038	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		6
HP:0002795	HP:0002643	Neonatal respiratory distress	2	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)			169
HP:0002795	HP:0002104	Apnea	2	PEX13 CL E G H	5194	8855	OMIM:614883	Peroxisome biogenesis disorder 11A (Zellweger)	.		66
HP:0002795	HP:0002104	Apnea	2	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)	.		99
HP:0002795	HP:0002878	Respiratory failure	2	PEX6 CL E G H	5190	8859	OMIM:614862	Peroxisome biogenesis disorder 4A (Zellweger)	.		98
HP:0002795	HP:0002094	Dyspnea	2	PFN1 CL E G H	5216	8881	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		6
HP:0002795	HP:0002878	Respiratory failure	2	PFN1 CL E G H	5216	8881	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		6
HP:0002795	HP:0002094	Dyspnea	2	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It	HP:0040283 - Occasional		58
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It			58
HP:0002795	HP:0002104	Apnea	2	PHOX2B CL E G H	8929	9143	OMIM:209880	Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease	.		86
HP:0002795	HP:0002791	Hypoventilation	2	PHOX2B CL E G H	8929	9143	OMIM:209880	Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease			86
HP:0002795	HP:0500165	Abnormal blood oxygen level	2	PHOX2B CL E G H	8929	9143	OMIM:209880	Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease			86
HP:0002795	HP:0500164	Abnormal blood carbon dioxide level	2	PHOX2B CL E G H	8929	9143	OMIM:209880	Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease			86
HP:0002795	HP:0002104	Apnea	2	PHOX2B CL E G H	8929	9143	ORPHA:99803	Haddad syndrome			86
HP:0002795	HP:0002791	Hypoventilation	2	PHOX2B CL E G H	8929	9143	ORPHA:99803	Haddad syndrome			86
HP:0002795	HP:0002104	Apnea	2	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional		11
HP:0002795	HP:0002104	Apnea	2	PIBF1 CL E G H	10464	23352	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		4
HP:0002795	HP:0002789	Tachypnea	2	PIBF1 CL E G H	10464	23352	ORPHA:475	Joubert syndrome			4
HP:0002795	HP:0002104	Apnea	2	PIBF1 CL E G H	10464	23352	OMIM:617767	Joubert syndrome 33	.		4
HP:0002795	HP:0030950	Pulmonary venous hypertension	2	PIEZO1 CL E G H	9780	28993	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040284 - Very rare		36
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	PIEZO2 CL E G H	63895	26270	OMIM:108145	Arthrogryposis, distal, type 5	.		77
HP:0002795	HP:0002878	Respiratory failure	2	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2			46
HP:0002795	HP:0002094	Dyspnea	2	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria	HP:0040282 - Frequent		46
HP:0002795	HP:0002204	Pulmonary embolism	2	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria	HP:0040283 - Occasional		46
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome			37
HP:0002795	HP:0002104	Apnea	2	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome			12
HP:0002795	HP:0002094	Dyspnea	2	PIGT CL E G H	51604	14938	OMIM:615399	Paroxysmal nocturnal hemoglobinuria 2	.		12
HP:0002795	HP:0002643	Neonatal respiratory distress	2	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent		9
HP:0002795	HP:0002791	Hypoventilation	2	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040283 - Occasional		563
HP:0002795	HP:0002878	Respiratory failure	2	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040282 - Frequent		563
HP:0002795	HP:0002094	Dyspnea	2	PKP2 CL E G H	5318	9024	OMIM:609040	Arrhythmogenic right ventricular dysplasia, familial, 9			406
HP:0002795	HP:0002104	Apnea	2	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy			133
HP:0002795	HP:4000007	Bronchoconstriction	2	PLA2G7 CL E G H	7941	9040	OMIM:600807	Asthma, susceptibility to	.		5
HP:0002795	HP:0002104	Apnea	2	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies			3
HP:0002795	HP:0002104	Apnea	2	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder	HP:0040282 - Frequent		3
HP:0002795	HP:0002643	Neonatal respiratory distress	2	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6	HP:0040281 - Very frequent
HP:0002795	HP:0002643	Neonatal respiratory distress	2	PLCB3 CL E G H	5331	9056	OMIM:618961	SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY; SMDCD
HP:0002795	HP:0002094	Dyspnea	2	PLCB4 CL E G H	5332	9059	ORPHA:137888	Auriculocondylar syndrome			82
HP:0002795	HP:0002104	Apnea	2	PLCB4 CL E G H	5332	9059	ORPHA:137888	Auriculocondylar syndrome			82
HP:0002795	HP:0025267	Snoring	2	PLCB4 CL E G H	5332	9059	ORPHA:137888	Auriculocondylar syndrome	HP:0040282 - Frequent		82
HP:0002795	HP:0002104	Apnea	2	PLCB4 CL E G H	5332	9059	OMIM:614669	Auriculocondylar syndrome 2	.		82
HP:0002795	HP:0025267	Snoring	2	PLCB4 CL E G H	5332	9059	OMIM:614669	Auriculocondylar syndrome 2	.		82
HP:0002795	HP:0002104	Apnea	2	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly
HP:0002795	HP:0002643	Neonatal respiratory distress	2	PLEC CL E G H	5339	9069	OMIM:226670	Epidermolysis bullosa simplex with muscular dystrophy	.		759
HP:0002795	HP:0002094	Dyspnea	2	PLEC CL E G H	5339	9069	ORPHA:254361	Plectin-related limb-girdle muscular dystrophy R17			759
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	PLEKHG5 CL E G H	57449	29105	OMIM:611067	Spinal muscular atrophy, distal, autosomal recessive, 4	.		186
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency	HP:0040284 - Very rare		105
HP:0002795	HP:0010307	Stridor	2	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease			60
HP:0002795	HP:0002878	Respiratory failure	2	PLP1 CL E G H	5354	9086	ORPHA:280210	Pelizaeus-Merzbacher disease, connatal form	HP:0040283 - Occasional		60
HP:0002795	HP:0002204	Pulmonary embolism	2	PLP1 CL E G H	5354	9086	ORPHA:99015	Spastic paraplegia type 2	HP:0040283 - Occasional		60
HP:0002795	HP:0002104	Apnea	2	PLPBP CL E G H	11212	9457	OMIM:617290	Epilepsy, early-onset, vitamin b6-dependent	.	HP:0003623 - Neonatal onset	6
HP:0002795	HP:0002643	Neonatal respiratory distress	2	PLPBP CL E G H	11212	9457	ORPHA:3006	Pyridoxine-dependent epilepsy	HP:0040282 - Frequent		6
HP:0002795	HP:0002789	Tachypnea	2	PLXND1 CL E G H	23129	9107	ORPHA:3384	Truncus arteriosus	HP:0040282 - Frequent
HP:0002795	HP:0002094	Dyspnea	2	PML CL E G H	5371	9113	ORPHA:520	Acute promyelocytic leukemia			3
HP:0002795	HP:0031245	Productive cough	2	PML CL E G H	5371	9113	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional		3
HP:0002795	HP:0002094	Dyspnea	2	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG			150
HP:0002795	HP:0002094	Dyspnea	2	PNKD CL E G H	25953	9153	ORPHA:98810	Paroxysmal non-kinesigenic dyskinesia	HP:0040283 - Occasional		66
HP:0002795	HP:0002094	Dyspnea	2	PNPLA2 CL E G H	57104	30802	ORPHA:565612	Triglyceride deposit cardiomyovasculopathy	HP:0040282 - Frequent		65
HP:0002795	HP:0002104	Apnea	2	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome			35
HP:0002795	HP:0002104	Apnea	2	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome			35
HP:0002795	HP:0002094	Dyspnea	2	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			464
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive	.		464
HP:0002795	HP:0002094	Dyspnea	2	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			45
HP:0002795	HP:0004887	Respiratory failure requiring assisted ventilation	2	POLR1B CL E G H	84172	20454	OMIM:618939	TREACHER COLLINS SYNDROME 4; TCS4
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	POMK CL E G H	84197	26267	OMIM:615249	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12	.		18
HP:0002795	HP:0002878	Respiratory failure	2	POMT1 CL E G H	10585	9202	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional		213
HP:0002795	HP:0002094	Dyspnea	2	POMT1 CL E G H	10585	9202	ORPHA:86812	POMT1-related limb-girdle muscular dystrophy R11	HP:0040283 - Occasional		213
HP:0002795	HP:0002878	Respiratory failure	2	POMT2 CL E G H	29954	19743	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional		221
HP:0002795	HP:0002094	Dyspnea	2	PON1 CL E G H	5444	9204	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		4
HP:0002795	HP:0002878	Respiratory failure	2	PON1 CL E G H	5444	9204	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		4
HP:0002795	HP:0002094	Dyspnea	2	PON2 CL E G H	5445	9205	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		2
HP:0002795	HP:0002878	Respiratory failure	2	PON2 CL E G H	5445	9205	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		2
HP:0002795	HP:0002094	Dyspnea	2	PON3 CL E G H	5446	9206	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		1
HP:0002795	HP:0002878	Respiratory failure	2	PON3 CL E G H	5446	9206	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		1
HP:0002795	HP:0002781	Upper airway obstruction	2	POR CL E G H	5447	9208	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	.		76
HP:0002795	HP:0002094	Dyspnea	2	PPARGC1A CL E G H	10891	9237	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		1
HP:0002795	HP:0002878	Respiratory failure	2	PPARGC1A CL E G H	10891	9237	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		1
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	PPCS CL E G H	79717	25686	OMIM:618189	Cardiomyopathy, dilated, 2C
HP:0002795	HP:0002203	Respiratory paralysis	2	PPOX CL E G H	5498	9280	ORPHA:79473	Porphyria variegata	HP:0040283 - Occasional		41
HP:0002795	HP:0002094	Dyspnea	2	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0002795	HP:0004887	Respiratory failure requiring assisted ventilation	2	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0002795	HP:0030828	Wheezing	2	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0002795	HP:0002094	Dyspnea	2	PRKAR1A CL E G H	5573	9388	ORPHA:520	Acute promyelocytic leukemia			134
HP:0002795	HP:0031245	Productive cough	2	PRKAR1A CL E G H	5573	9388	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional		134
HP:0002795	HP:0002094	Dyspnea	2	PRKAR1A CL E G H	5573	9388	ORPHA:615	Familial atrial myxoma			134
HP:0002795	HP:0002104	Apnea	2	PRKAR1B CL E G H	5575	9390	OMIM:619680	MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS			2
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	PRKCD CL E G H	5580	9399	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional		10
HP:0002795	HP:0002094	Dyspnea	2	PRKCSH CL E G H	5589	9411	OMIM:174050	Polycystic liver disease 1 with or without kidney cysts	.		63
HP:0002795	HP:0002094	Dyspnea	2	PRKG1 CL E G H	5592	9414	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			41
HP:0002795	HP:0002104	Apnea	2	PRMT7 CL E G H	54496	25557	ORPHA:464288	Short stature-brachydactyly-obesity-global developmental delay syndrome			6
HP:0002795	HP:0002104	Apnea	2	PRNP CL E G H	5621	9449	OMIM:600072	Fatal familial insomnia	.		69
HP:0002795	HP:0002204	Pulmonary embolism	2	PROC CL E G H	5624	9451	ORPHA:745	Severe hereditary thrombophilia due to congenital protein C deficiency	HP:0040283 - Occasional		65
HP:0002795	HP:0002204	Pulmonary embolism	2	PROC CL E G H	5624	9451	OMIM:612304	Thrombophilia due to protein C deficiency, autosomal recessive	.		65
HP:0002795	HP:0002204	Pulmonary embolism	2	PROC CL E G H	5624	9451	OMIM:176860	Thrombophilia, hereditary, due to protein C deficiency, autosomaldominant	.		65
HP:0002795	HP:0002204	Pulmonary embolism	2	PROS1 CL E G H	5627	9456	ORPHA:743	Severe hereditary thrombophilia due to congenital protein S deficiency	HP:0040283 - Occasional		75
HP:0002795	HP:0002204	Pulmonary embolism	2	PROS1 CL E G H	5627	9456	OMIM:614514	Thrombophilia due to protein S deficiency, autosomal recessive	.		75
HP:0002795	HP:0002204	Pulmonary embolism	2	PROS1 CL E G H	5627	9456	OMIM:612336	Thrombophilia, hereditary, due to protein S deficiency, autosomal	.		75
HP:0002795	HP:0002094	Dyspnea	2	PRPH CL E G H	5630	9461	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		25
HP:0002795	HP:0002878	Respiratory failure	2	PRPH CL E G H	5630	9461	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		25
HP:0002795	HP:0002104	Apnea	2	PRPH CL E G H	5630	9461	OMIM:105400	Amyotrophic lateral sclerosis 1			25
HP:0002795	HP:0004887	Respiratory failure requiring assisted ventilation	2	PRPS1 CL E G H	5631	9462	ORPHA:1187	Lethal ataxia with deafness and optic atrophy	HP:0040282 - Frequent		49
HP:0002795	HP:0002104	Apnea	2	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome			49
HP:0002795	HP:0002104	Apnea	2	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0002795	HP:0002104	Apnea	2	PRRT2 CL E G H	112476	30500	ORPHA:306	Benign familial infantile epilepsy	HP:0040282 - Frequent		94
HP:0002795	HP:0002094	Dyspnea	2	PRRT2 CL E G H	112476	30500	ORPHA:98810	Paroxysmal non-kinesigenic dyskinesia	HP:0040283 - Occasional		94
HP:0002795	HP:0002094	Dyspnea	2	PRRX1 CL E G H	5396	9142	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome			4
HP:0002795	HP:0002094	Dyspnea	2	PRRX1 CL E G H	5396	9142	OMIM:202650	Agnathia-Otocephaly complex			4
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional
HP:0002795	HP:0006510	Chronic pulmonary obstruction	2	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis	HP:0040282 - Frequent
HP:0002795	HP:0002094	Dyspnea	2	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease			81
HP:0002795	HP:0002878	Respiratory failure	2	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease	HP:0040283 - Occasional		81
HP:0002795	HP:0002104	Apnea	2	PSAP CL E G H	5660	9498	OMIM:611722	KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY			81
HP:0002795	HP:0002878	Respiratory failure	2	PSAP CL E G H	5660	9498	OMIM:611722	KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY			81
HP:0002795	HP:0002104	Apnea	2	PSAT1 CL E G H	29968	19129	OMIM:610992	Phosphoserine aminotransferase deficiency			27
HP:0002795	HP:0002643	Neonatal respiratory distress	2	PTCD3 CL E G H	55037	24717	OMIM:619057	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51; COXPD51
HP:0002795	HP:0002878	Respiratory failure	2	PTCD3 CL E G H	55037	24717	OMIM:619057	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51; COXPD51
HP:0002795	HP:0002104	Apnea	2	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly			665
HP:0002795	HP:0002104	Apnea	2	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly			665
HP:0002795	HP:0002104	Apnea	2	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			665
HP:0002795	HP:0002104	Apnea	2	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly			665
HP:0002795	HP:0002204	Pulmonary embolism	2	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040282 - Frequent		948
HP:0002795	HP:0002104	Apnea	2	PTF1A CL E G H	256297	23734	OMIM:609069	Pancreatic and cerebellar agenesis	.		22
HP:0002795	HP:4000007	Bronchoconstriction	2	PTGER2 CL E G H	5732	9594	OMIM:208550	Asthma, nasal polyps, and aspirin intolerance	.		1
HP:0002795	HP:0012042	Aspirin-induced asthma	2	PTGER2 CL E G H	5732	9594	OMIM:208550	Asthma, nasal polyps, and aspirin intolerance	.		1
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional		3
HP:0002795	HP:0006510	Chronic pulmonary obstruction	2	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis	HP:0040282 - Frequent		3
HP:0002795	HP:0500165	Abnormal blood oxygen level	2	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease			6
HP:0002795	HP:0002094	Dyspnea	2	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome			19
HP:0002795	HP:0002094	Dyspnea	2	PURA CL E G H	5813	9701	ORPHA:438216	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation			53
HP:0002795	HP:0002094	Dyspnea	2	PURA CL E G H	5813	9701	ORPHA:314655	Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion			53
HP:0002795	HP:0002104	Apnea	2	PURA CL E G H	5813	9701	ORPHA:314655	Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion	HP:0040283 - Occasional		53
HP:0002795	HP:0002791	Hypoventilation	2	PURA CL E G H	5813	9701	ORPHA:314655	Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion	HP:0040283 - Occasional		53
HP:0002795	HP:0002104	Apnea	2	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0002795	HP:0002791	Hypoventilation	2	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome	.
HP:0002795	HP:0002104	Apnea	2	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0002795	HP:0002791	Hypoventilation	2	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome	.
HP:0002795	HP:0002094	Dyspnea	2	PYGM CL E G H	5837	9726	ORPHA:368	Glycogen storage disease due to muscle glycogen phosphorylase deficiency			166
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8			5
HP:0002795	HP:0002792	Reduced vital capacity	2	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8			5
HP:0002795	HP:0006510	Chronic pulmonary obstruction	2	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B			9
HP:0002795	HP:0002104	Apnea	2	RAI1 CL E G H	10743	9834	ORPHA:1713	17p11.2 microduplication syndrome			150
HP:0002795	HP:0002643	Neonatal respiratory distress	2	RALGAPA1 CL E G H	253959	17770	OMIM:618797	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT			1
HP:0002795	HP:0002643	Neonatal respiratory distress	2	RAPSN CL E G H	5913	9863	OMIM:616326	Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency			73
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	RAPSN CL E G H	5913	9863	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		73
HP:0002795	HP:0002094	Dyspnea	2	RAPSN CL E G H	5913	9863	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			73
HP:0002795	HP:0002792	Reduced vital capacity	2	RAPSN CL E G H	5913	9863	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		73
HP:0002795	HP:0002878	Respiratory failure	2	RAPSN CL E G H	5913	9863	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		73
HP:0002795	HP:0002094	Dyspnea	2	RARA CL E G H	5914	9864	ORPHA:520	Acute promyelocytic leukemia			2
HP:0002795	HP:0031245	Productive cough	2	RARA CL E G H	5914	9864	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional		2
HP:0002795	HP:0002104	Apnea	2	RARS2 CL E G H	57038	21406	OMIM:611523	Pontocerebellar hypoplasia, type 6	.		93
HP:0002795	HP:0002104	Apnea	2	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome	HP:0040283 - Occasional		16
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome			3
HP:0002795	HP:0002094	Dyspnea	2	REEP1 CL E G H	65055	25786	OMIM:620011				87
HP:0002795	HP:0030207	Paradoxical respiration	2	REEP1 CL E G H	65055	25786	OMIM:620011				87
HP:0002795	HP:0002094	Dyspnea	2	RELN CL E G H	5649	9957	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type			334
HP:0002795	HP:0002104	Apnea	2	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart			16
HP:0002795	HP:0002104	Apnea	2	RET CL E G H	5979	9967	ORPHA:99803	Haddad syndrome			572
HP:0002795	HP:0002791	Hypoventilation	2	RET CL E G H	5979	9967	ORPHA:99803	Haddad syndrome			572
HP:0002795	HP:0002789	Tachypnea	2	RHAG CL E G H	6005	10006	ORPHA:71275	Rh deficiency syndrome	HP:0040283 - Occasional		13
HP:0002795	HP:0500165	Abnormal blood oxygen level	2	RHAG CL E G H	6005	10006	ORPHA:71275	Rh deficiency syndrome			13
HP:0002795	HP:0002789	Tachypnea	2	RHCE CL E G H	6006	10008	ORPHA:71275	Rh deficiency syndrome	HP:0040283 - Occasional		8
HP:0002795	HP:0500165	Abnormal blood oxygen level	2	RHCE CL E G H	6006	10008	ORPHA:71275	Rh deficiency syndrome			8
HP:0002795	HP:0002789	Tachypnea	2	RHD CL E G H	6007	10009	ORPHA:71275	Rh deficiency syndrome	HP:0040283 - Occasional		16
HP:0002795	HP:0500165	Abnormal blood oxygen level	2	RHD CL E G H	6007	10009	ORPHA:71275	Rh deficiency syndrome			16
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	RNASEH1 CL E G H	246243	18466	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	HP:0040282 - Frequent		3
HP:0002795	HP:0025428	Bronchospasm	2	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0002795	HP:0002104	Apnea	2	RNF125 CL E G H	54941	21150	OMIM:616260	Tenorio syndrome	.		5
HP:0002795	HP:0002094	Dyspnea	2	RNF13 CL E G H	11342	10057	ORPHA:544503	RNF13-related severe early-onset epileptic encephalopathy
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome	HP:0040283 - Occasional		7
HP:0002795	HP:0002643	Neonatal respiratory distress	2	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome			7
HP:0002795	HP:0002878	Respiratory failure	2	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome	HP:0040283 - Occasional		7
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	RNU4ATAC CL E G H	100151683	34016	OMIM:226960	EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS			15
HP:0002795	HP:0002094	Dyspnea	2	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III	HP:0040281 - Very frequent		15
HP:0002795	HP:0002878	Respiratory failure	2	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III	HP:0040281 - Very frequent		15
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	RPA1 CL E G H	6117	10289	OMIM:619767	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 6; PFBMFT6
HP:0002795	HP:0002643	Neonatal respiratory distress	2	RPGR CL E G H	6103	10295	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		200
HP:0002795	HP:0002878	Respiratory failure	2	RPGR CL E G H	6103	10295	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		200
HP:0002795	HP:0030828	Wheezing	2	RPGR CL E G H	6103	10295	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		200
HP:0002795	HP:0031245	Productive cough	2	RPGR CL E G H	6103	10295	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		200
HP:0002795	HP:0002104	Apnea	2	RPGRIP1L CL E G H	23322	29168	OMIM:611560	Joubert syndrome 7			167
HP:0002795	HP:0002789	Tachypnea	2	RPGRIP1L CL E G H	23322	29168	OMIM:611560	Joubert syndrome 7	.		167
HP:0002795	HP:0002790	Neonatal breathing dysregulation	2	RPGRIP1L CL E G H	23322	29168	OMIM:611560	Joubert syndrome 7	.		167
HP:0002795	HP:0002104	Apnea	2	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040281 - Very frequent		167
HP:0002795	HP:0002104	Apnea	2	RPGRIP1L CL E G H	23322	29168	ORPHA:220497	Joubert syndrome with renal defect	HP:0040281 - Very frequent		167
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	RPL3L CL E G H	6123	10351	OMIM:619371	CARDIOMYOPATHY, DILATED, 2D; CMD2D
HP:0002795	HP:0002094	Dyspnea	2	RPS26 CL E G H	6231	10414	OMIM:613309	Diamond-blackfan anemia 10			20
HP:0002795	HP:0002094	Dyspnea	2	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis			1
HP:0002795	HP:0002104	Apnea	2	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome			65
HP:0002795	HP:0006510	Chronic pulmonary obstruction	2	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	RRM2B CL E G H	50484	17296	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	HP:0040282 - Frequent		125
HP:0002795	HP:0002094	Dyspnea	2	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			125
HP:0002795	HP:0002094	Dyspnea	2	RRM2B CL E G H	50484	17296	OMIM:612075	Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)			125
HP:0002795	HP:0012262	Abnormal ciliary motility	2	RSPH1 CL E G H	89765	12371	OMIM:615481	Ciliary dyskinesia, primary, 24			31
HP:0002795	HP:0002643	Neonatal respiratory distress	2	RSPH1 CL E G H	89765	12371	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		31
HP:0002795	HP:0002878	Respiratory failure	2	RSPH1 CL E G H	89765	12371	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		31
HP:0002795	HP:0030828	Wheezing	2	RSPH1 CL E G H	89765	12371	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		31
HP:0002795	HP:0031245	Productive cough	2	RSPH1 CL E G H	89765	12371	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		31
HP:0002795	HP:0002643	Neonatal respiratory distress	2	RSPH3 CL E G H	83861	21054	OMIM:616481	Ciliary dyskinesia, primary, 32	.		5
HP:0002795	HP:0006510	Chronic pulmonary obstruction	2	RSPH3 CL E G H	83861	21054	OMIM:616481	Ciliary dyskinesia, primary, 32			5
HP:0002795	HP:0012262	Abnormal ciliary motility	2	RSPH3 CL E G H	83861	21054	OMIM:616481	Ciliary dyskinesia, primary, 32			5
HP:0002795	HP:0002643	Neonatal respiratory distress	2	RSPH3 CL E G H	83861	21054	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		5
HP:0002795	HP:0002878	Respiratory failure	2	RSPH3 CL E G H	83861	21054	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		5
HP:0002795	HP:0030828	Wheezing	2	RSPH3 CL E G H	83861	21054	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		5
HP:0002795	HP:0031245	Productive cough	2	RSPH3 CL E G H	83861	21054	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		5
HP:0002795	HP:0002643	Neonatal respiratory distress	2	RSPH4A CL E G H	345895	21558	OMIM:612649	Ciliary dyskinesia, primary, 11			58
HP:0002795	HP:0012262	Abnormal ciliary motility	2	RSPH4A CL E G H	345895	21558	OMIM:612649	Ciliary dyskinesia, primary, 11	.		58
HP:0002795	HP:0002643	Neonatal respiratory distress	2	RSPH4A CL E G H	345895	21558	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		58
HP:0002795	HP:0002878	Respiratory failure	2	RSPH4A CL E G H	345895	21558	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		58
HP:0002795	HP:0030828	Wheezing	2	RSPH4A CL E G H	345895	21558	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		58
HP:0002795	HP:0031245	Productive cough	2	RSPH4A CL E G H	345895	21558	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		58
HP:0002795	HP:0002643	Neonatal respiratory distress	2	RSPH9 CL E G H	221421	21057	OMIM:612650	CILIARY DYSKINESIA, PRIMARY, 12; CILD12			20
HP:0002795	HP:0006510	Chronic pulmonary obstruction	2	RSPH9 CL E G H	221421	21057	OMIM:612650	CILIARY DYSKINESIA, PRIMARY, 12; CILD12			20
HP:0002795	HP:0012262	Abnormal ciliary motility	2	RSPH9 CL E G H	221421	21057	OMIM:612650	CILIARY DYSKINESIA, PRIMARY, 12; CILD12			20
HP:0002795	HP:0002643	Neonatal respiratory distress	2	RSPH9 CL E G H	221421	21057	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		20
HP:0002795	HP:0002878	Respiratory failure	2	RSPH9 CL E G H	221421	21057	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		20
HP:0002795	HP:0030828	Wheezing	2	RSPH9 CL E G H	221421	21057	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		20
HP:0002795	HP:0031245	Productive cough	2	RSPH9 CL E G H	221421	21057	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		20
HP:0002795	HP:0002094	Dyspnea	2	RTEL1 CL E G H	51750	15888	ORPHA:2032	Idiopathic pulmonary fibrosis			77
HP:0002795	HP:0030830	Crackles	2	RTEL1 CL E G H	51750	15888	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent		77
HP:0002795	HP:0045049	Abnormal DLCO	2	RTEL1 CL E G H	51750	15888	OMIM:616373	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3; PFBMFT3			77
HP:0002795	HP:0032341	Reduced forced vital capacity	2	RTEL1 CL E G H	51750	15888	OMIM:616373	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3; PFBMFT3			77
HP:0002795	HP:0032342	Reduced forced expiratory volume in one second	2	RTEL1 CL E G H	51750	15888	OMIM:616373	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3; PFBMFT3			77
HP:0002795	HP:0002878	Respiratory failure	2	RTL1 CL E G H	388015	14665	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040282 - Frequent
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0002795	HP:0002878	Respiratory failure	2	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040282 - Frequent
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0002795	HP:0002094	Dyspnea	2	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia			90
HP:0002795	HP:0002104	Apnea	2	RUNX2 CL E G H	860	10472	ORPHA:1452	Cleidocranial dysplasia			90
HP:0002795	HP:0002643	Neonatal respiratory distress	2	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia	.		90
HP:0002795	HP:0002643	Neonatal respiratory distress	2	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy			1200
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040283 - Occasional		1200
HP:0002795	HP:0002643	Neonatal respiratory distress	2	RYR1 CL E G H	6261	10483	ORPHA:597	Central core disease	HP:0040284 - Very rare		1200
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	RYR1 CL E G H	6261	10483	ORPHA:597	Central core disease	HP:0040284 - Very rare		1200
HP:0002795	HP:0002878	Respiratory failure	2	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia	HP:0040283 - Occasional		1200
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	RYR1 CL E G H	6261	10483	ORPHA:424107	Congenital myopathy with myasthenic-like onset	HP:0040284 - Very rare		1200
HP:0002795	HP:0002789	Tachypnea	2	RYR1 CL E G H	6261	10483	ORPHA:466650	Exercise-induced malignant hyperthermia	HP:0040282 - Frequent		1200
HP:0002795	HP:0500164	Abnormal blood carbon dioxide level	2	RYR1 CL E G H	6261	10483	ORPHA:466650	Exercise-induced malignant hyperthermia			1200
HP:0002795	HP:0030830	Crackles	2	RYR1 CL E G H	6261	10483	ORPHA:466650	Exercise-induced malignant hyperthermia	HP:0040283 - Occasional		1200
HP:0002795	HP:0002789	Tachypnea	2	RYR1 CL E G H	6261	10483	ORPHA:423	Malignant hyperthermia of anesthesia	HP:0040282 - Frequent		1200
HP:0002795	HP:0500164	Abnormal blood carbon dioxide level	2	RYR1 CL E G H	6261	10483	ORPHA:423	Malignant hyperthermia of anesthesia			1200
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	RYR1 CL E G H	6261	10483	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.		1200
HP:0002795	HP:0032341	Reduced forced vital capacity	2	RYR1 CL E G H	6261	10483	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.		1200
HP:0002795	HP:0002878	Respiratory failure	2	SARS2 CL E G H	54938	17697	OMIM:613845	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome	.		60
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	SARS2 CL E G H	54938	17697	OMIM:613845	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome			60
HP:0002795	HP:0002104	Apnea	2	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome			34
HP:0002795	HP:0002104	Apnea	2	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement			34
HP:0002795	HP:0002094	Dyspnea	2	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1			26
HP:0002795	HP:0002643	Neonatal respiratory distress	2	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1	.		26
HP:0002795	HP:0002792	Reduced vital capacity	2	SBF2 CL E G H	81846	2135	ORPHA:99956	Charcot-Marie-Tooth disease type 4B2			180
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	SCARB2 CL E G H	950	1665	ORPHA:77259	Gaucher disease type 1			77
HP:0002795	HP:0010307	Stridor	2	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome	.		11
HP:0002795	HP:4000007	Bronchoconstriction	2	SCGB3A2 CL E G H	117156	18391	OMIM:600807	Asthma, susceptibility to	.		1
HP:0002795	HP:0002094	Dyspnea	2	SCN1B CL E G H	6324	10586	ORPHA:871	Familial progressive cardiac conduction defect	HP:0040282 - Frequent		126
HP:0002795	HP:0002104	Apnea	2	SCN2A CL E G H	6326	10588	ORPHA:306	Benign familial infantile epilepsy	HP:0040282 - Frequent		427
HP:0002795	HP:0002104	Apnea	2	SCN2A CL E G H	6326	10588	OMIM:607745	Seizures, benign familial infantile, 3	.		427
HP:0002795	HP:0002203	Respiratory paralysis	2	SCN4A CL E G H	6329	10591	ORPHA:681	Hypokalemic periodic paralysis	HP:0040284 - Very rare		263
HP:0002795	HP:0002104	Apnea	2	SCN4A CL E G H	6329	10591	OMIM:614198	Myasthenic syndrome, congenital, 16	HP:0040283 - Occasional		263
HP:0002795	HP:0002104	Apnea	2	SCN4A CL E G H	6329	10591	ORPHA:99734	Myotonia fluctuans	HP:0040284 - Very rare		263
HP:0002795	HP:0010307	Stridor	2	SCN4A CL E G H	6329	10591	ORPHA:99734	Myotonia fluctuans	HP:0040284 - Very rare		263
HP:0002795	HP:0002094	Dyspnea	2	SCN4A CL E G H	6329	10591	ORPHA:99735	Myotonia permanens	HP:0040283 - Occasional		263
HP:0002795	HP:0002104	Apnea	2	SCN4A CL E G H	6329	10591	OMIM:608390	Myotonia, potassium-aggravated			263
HP:0002795	HP:0010307	Stridor	2	SCN4A CL E G H	6329	10591	OMIM:608390	Myotonia, potassium-aggravated	.		263
HP:0002795	HP:0002643	Neonatal respiratory distress	2	SCN4A CL E G H	6329	10591	ORPHA:684	Paramyotonia congenita of Von Eulenburg			263
HP:0002795	HP:0010307	Stridor	2	SCN4A CL E G H	6329	10591	OMIM:168300	Paramyotonia congenita of von eulenburg			263
HP:0002795	HP:0010307	Stridor	2	SCN4A CL E G H	6329	10591	ORPHA:684	Paramyotonia congenita of Von Eulenburg			263
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	SCN4A CL E G H	6329	10591	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		263
HP:0002795	HP:0002094	Dyspnea	2	SCN4A CL E G H	6329	10591	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			263
HP:0002795	HP:0002792	Reduced vital capacity	2	SCN4A CL E G H	6329	10591	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		263
HP:0002795	HP:0002878	Respiratory failure	2	SCN4A CL E G H	6329	10591	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		263
HP:0002795	HP:0002094	Dyspnea	2	SCN5A CL E G H	6331	10593	ORPHA:1344	Atrial standstill	HP:0040282 - Frequent		1134
HP:0002795	HP:0002094	Dyspnea	2	SCN5A CL E G H	6331	10593	ORPHA:871	Familial progressive cardiac conduction defect	HP:0040282 - Frequent		1134
HP:0002795	HP:0002094	Dyspnea	2	SCN5A CL E G H	6331	10593	OMIM:113900	Progressive familial heart block, type IA	.		1134
HP:0002795	HP:0002104	Apnea	2	SCN5A CL E G H	6331	10593	OMIM:272120	Sudden infant death syndrome			1134
HP:0002795	HP:0002104	Apnea	2	SCN8A CL E G H	6334	10596	ORPHA:306	Benign familial infantile epilepsy	HP:0040282 - Frequent		357
HP:0002795	HP:0031417	Rhinorrhea	2	SCN9A CL E G H	6335	10597	OMIM:167400	Paroxysmal extreme pain disorder	.		318
HP:0002795	HP:0030828	Wheezing	2	SCNN1A CL E G H	6337	10599	ORPHA:171876	Generalized pseudohypoaldosteronism type 1	HP:0040283 - Occasional		67
HP:0002795	HP:0002094	Dyspnea	2	SCNN1A CL E G H	6337	10599	ORPHA:60033	Idiopathic bronchiectasis	HP:0040282 - Frequent		67
HP:0002795	HP:0030828	Wheezing	2	SCNN1A CL E G H	6337	10599	ORPHA:60033	Idiopathic bronchiectasis	HP:0040282 - Frequent		67
HP:0002795	HP:0030830	Crackles	2	SCNN1A CL E G H	6337	10599	ORPHA:60033	Idiopathic bronchiectasis	HP:0040282 - Frequent		67
HP:0002795	HP:0030877	Reduced FEV1/FVC ratio	2	SCNN1A CL E G H	6337	10599	ORPHA:60033	Idiopathic bronchiectasis	HP:0040282 - Frequent		67
HP:0002795	HP:0031245	Productive cough	2	SCNN1A CL E G H	6337	10599	ORPHA:60033	Idiopathic bronchiectasis	HP:0040281 - Very frequent		67
HP:0002795	HP:0030828	Wheezing	2	SCNN1B CL E G H	6338	10600	ORPHA:171876	Generalized pseudohypoaldosteronism type 1	HP:0040283 - Occasional		61
HP:0002795	HP:0002094	Dyspnea	2	SCNN1B CL E G H	6338	10600	ORPHA:60033	Idiopathic bronchiectasis	HP:0040282 - Frequent		61
HP:0002795	HP:0030828	Wheezing	2	SCNN1B CL E G H	6338	10600	ORPHA:60033	Idiopathic bronchiectasis	HP:0040282 - Frequent		61
HP:0002795	HP:0030830	Crackles	2	SCNN1B CL E G H	6338	10600	ORPHA:60033	Idiopathic bronchiectasis	HP:0040282 - Frequent		61
HP:0002795	HP:0030877	Reduced FEV1/FVC ratio	2	SCNN1B CL E G H	6338	10600	ORPHA:60033	Idiopathic bronchiectasis	HP:0040282 - Frequent		61
HP:0002795	HP:0031245	Productive cough	2	SCNN1B CL E G H	6338	10600	ORPHA:60033	Idiopathic bronchiectasis	HP:0040281 - Very frequent		61
HP:0002795	HP:0030828	Wheezing	2	SCNN1G CL E G H	6340	10602	ORPHA:171876	Generalized pseudohypoaldosteronism type 1	HP:0040283 - Occasional		57
HP:0002795	HP:0002094	Dyspnea	2	SCNN1G CL E G H	6340	10602	ORPHA:60033	Idiopathic bronchiectasis	HP:0040282 - Frequent		57
HP:0002795	HP:0030828	Wheezing	2	SCNN1G CL E G H	6340	10602	ORPHA:60033	Idiopathic bronchiectasis	HP:0040282 - Frequent		57
HP:0002795	HP:0030830	Crackles	2	SCNN1G CL E G H	6340	10602	ORPHA:60033	Idiopathic bronchiectasis	HP:0040282 - Frequent		57
HP:0002795	HP:0030877	Reduced FEV1/FVC ratio	2	SCNN1G CL E G H	6340	10602	ORPHA:60033	Idiopathic bronchiectasis	HP:0040282 - Frequent		57
HP:0002795	HP:0031245	Productive cough	2	SCNN1G CL E G H	6340	10602	ORPHA:60033	Idiopathic bronchiectasis	HP:0040281 - Very frequent		57
HP:0002795	HP:0002104	Apnea	2	SCO1 CL E G H	6341	10603	OMIM:619048	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN4			46
HP:0002795	HP:0002094	Dyspnea	2	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1			40
HP:0002795	HP:0010307	Stridor	2	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1			40
HP:0002795	HP:0012195	Irregular respiration	2	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1			40
HP:0002795	HP:0002094	Dyspnea	2	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy			40
HP:0002795	HP:0002104	Apnea	2	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		40
HP:0002795	HP:0002791	Hypoventilation	2	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy			40
HP:0002795	HP:0002878	Respiratory failure	2	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		40
HP:0002795	HP:0002094	Dyspnea	2	SCYL2 CL E G H	55681	19286	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	SCYL2 CL E G H	55681	19286	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040283 - Occasional
HP:0002795	HP:0002094	Dyspnea	2	SDCCAG8 CL E G H	10806	10671	OMIM:615993	Bardet-Biedl syndrome 16			61
HP:0002795	HP:0002094	Dyspnea	2	SDHA CL E G H	6389	10680	OMIM:613642	Cardiomyopathy, dilated, 1gg			304
HP:0002795	HP:0002104	Apnea	2	SDHA CL E G H	6389	10680	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		304
HP:0002795	HP:0025428	Bronchospasm	2	SDHD CL E G H	6392	10683	ORPHA:100093	Carcinoid syndrome	HP:0040283 - Occasional		129
HP:0002795	HP:0031417	Rhinorrhea	2	SDHD CL E G H	6392	10683	ORPHA:100093	Carcinoid syndrome	HP:0040283 - Occasional		129
HP:0002795	HP:0006510	Chronic pulmonary obstruction	2	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	SELENON CL E G H	57190	15999	ORPHA:324604	Classic multiminicore myopathy	HP:0040282 - Frequent		144
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	SELENON CL E G H	57190	15999	ORPHA:324604	Classic multiminicore myopathy			144
HP:0002795	HP:0002791	Hypoventilation	2	SELENON CL E G H	57190	15999	ORPHA:324604	Classic multiminicore myopathy			144
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		144
HP:0002795	HP:0002878	Respiratory failure	2	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		144
HP:0002795	HP:0004878	Intercostal muscle weakness	2	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		144
HP:0002795	HP:0500165	Abnormal blood oxygen level	2	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy			144
HP:0002795	HP:0500164	Abnormal blood carbon dioxide level	2	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy			144
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	SELENON CL E G H	57190	15999	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.		144
HP:0002795	HP:0032341	Reduced forced vital capacity	2	SELENON CL E G H	57190	15999	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.		144
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	SELENON CL E G H	57190	15999	OMIM:602771	Rigid spine muscular dystrophy 1	.		144
HP:0002795	HP:0002791	Hypoventilation	2	SELENON CL E G H	57190	15999	OMIM:602771	Rigid spine muscular dystrophy 1			144
HP:0002795	HP:0002792	Reduced vital capacity	2	SELENON CL E G H	57190	15999	OMIM:602771	Rigid spine muscular dystrophy 1	.		144
HP:0002795	HP:0002104	Apnea	2	SEPSECS CL E G H	51091	30605	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040282 - Frequent		66
HP:0002795	HP:0002094	Dyspnea	2	SERPINA1 CL E G H	5265	8941	OMIM:613490	Alpha-1-Antitrypsin deficiency			131
HP:0002795	HP:0006510	Chronic pulmonary obstruction	2	SERPINA1 CL E G H	5265	8941	OMIM:613490	Alpha-1-Antitrypsin deficiency	.		131
HP:0002795	HP:0030828	Wheezing	2	SERPINA1 CL E G H	5265	8941	OMIM:613490	Alpha-1-Antitrypsin deficiency			131
HP:0002795	HP:0032342	Reduced forced expiratory volume in one second	2	SERPINA1 CL E G H	5265	8941	ORPHA:586	Cystic fibrosis			131
HP:0002795	HP:0002204	Pulmonary embolism	2	SERPINC1 CL E G H	462	775	OMIM:613118	Antithrombin III deficiency	.		88
HP:0002795	HP:0002204	Pulmonary embolism	2	SERPINC1 CL E G H	462	775	ORPHA:82	Hereditary thrombophilia due to congenital antithrombin deficiency	HP:0040282 - Frequent		88
HP:0002795	HP:0002094	Dyspnea	2	SERPING1 CL E G H	710	1228	ORPHA:100050	Hereditary angioedema type 1	HP:0040282 - Frequent		64
HP:0002795	HP:0010307	Stridor	2	SERPING1 CL E G H	710	1228	ORPHA:100050	Hereditary angioedema type 1			64
HP:0002795	HP:0002094	Dyspnea	2	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome			143
HP:0002795	HP:0002094	Dyspnea	2	SFTPA1 CL E G H	653509	10798	ORPHA:2032	Idiopathic pulmonary fibrosis			19
HP:0002795	HP:0030830	Crackles	2	SFTPA1 CL E G H	653509	10798	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent		19
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	SFTPA1 CL E G H	653509	10798	OMIM:619611	INTERSTITIAL LUNG DISEASE 1; ILD1			19
HP:0002795	HP:0002094	Dyspnea	2	SFTPA1 CL E G H	653509	10798	OMIM:619611	INTERSTITIAL LUNG DISEASE 1; ILD1			19
HP:0002795	HP:0045049	Abnormal DLCO	2	SFTPA1 CL E G H	653509	10798	OMIM:619611	INTERSTITIAL LUNG DISEASE 1; ILD1			19
HP:0002795	HP:0030830	Crackles	2	SFTPA1 CL E G H	653509	10798	OMIM:619611	INTERSTITIAL LUNG DISEASE 1; ILD1			19
HP:0002795	HP:0002094	Dyspnea	2	SFTPA2 CL E G H	729238	10799	ORPHA:2032	Idiopathic pulmonary fibrosis			10
HP:0002795	HP:0030830	Crackles	2	SFTPA2 CL E G H	729238	10799	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent		10
HP:0002795	HP:0002094	Dyspnea	2	SFTPA2 CL E G H	729238	10799	OMIM:178500	Pulmonary fibrosis, idiopathic			10
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	SFTPA2 CL E G H	729238	10799	OMIM:178500	Pulmonary fibrosis, idiopathic			10
HP:0002795	HP:0045049	Abnormal DLCO	2	SFTPA2 CL E G H	729238	10799	OMIM:178500	Pulmonary fibrosis, idiopathic			10
HP:0002795	HP:0002094	Dyspnea	2	SFTPB CL E G H	6439	10801	ORPHA:70587	Infant acute respiratory distress syndrome			51
HP:0002795	HP:0002789	Tachypnea	2	SFTPB CL E G H	6439	10801	ORPHA:70587	Infant acute respiratory distress syndrome	HP:0040282 - Frequent		51
HP:0002795	HP:0002878	Respiratory failure	2	SFTPB CL E G H	6439	10801	ORPHA:70587	Infant acute respiratory distress syndrome	HP:0040282 - Frequent		51
HP:0002795	HP:0500165	Abnormal blood oxygen level	2	SFTPB CL E G H	6439	10801	ORPHA:70587	Infant acute respiratory distress syndrome			51
HP:0002795	HP:0002643	Neonatal respiratory distress	2	SFTPB CL E G H	6439	10801	ORPHA:217563	Neonatal acute respiratory distress due to SP-B deficiency	HP:0040281 - Very frequent		51
HP:0002795	HP:0002789	Tachypnea	2	SFTPB CL E G H	6439	10801	ORPHA:217563	Neonatal acute respiratory distress due to SP-B deficiency	HP:0040281 - Very frequent		51
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	SFTPB CL E G H	6439	10801	ORPHA:217563	Neonatal acute respiratory distress due to SP-B deficiency			51
HP:0002795	HP:0002094	Dyspnea	2	SFTPB CL E G H	6439	10801	OMIM:265120	Surfactant metabolism dysfunction, pulmonary, 1	.		51
HP:0002795	HP:0002104	Apnea	2	SFTPB CL E G H	6439	10801	OMIM:265120	Surfactant metabolism dysfunction, pulmonary, 1			51
HP:0002795	HP:0002643	Neonatal respiratory distress	2	SFTPB CL E G H	6439	10801	OMIM:265120	Surfactant metabolism dysfunction, pulmonary, 1			51
HP:0002795	HP:0002789	Tachypnea	2	SFTPB CL E G H	6439	10801	OMIM:265120	Surfactant metabolism dysfunction, pulmonary, 1	.		51
HP:0002795	HP:0002878	Respiratory failure	2	SFTPB CL E G H	6439	10801	OMIM:265120	Surfactant metabolism dysfunction, pulmonary, 1	.	HP:0003623 - Neonatal onset	51
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	SFTPB CL E G H	6439	10801	OMIM:265120	Surfactant metabolism dysfunction, pulmonary, 1			51
HP:0002795	HP:0002094	Dyspnea	2	SFTPC CL E G H	6440	10802	ORPHA:2032	Idiopathic pulmonary fibrosis			33
HP:0002795	HP:0030830	Crackles	2	SFTPC CL E G H	6440	10802	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent		33
HP:0002795	HP:0002094	Dyspnea	2	SFTPC CL E G H	6440	10802	ORPHA:70587	Infant acute respiratory distress syndrome			33
HP:0002795	HP:0002789	Tachypnea	2	SFTPC CL E G H	6440	10802	ORPHA:70587	Infant acute respiratory distress syndrome	HP:0040282 - Frequent		33
HP:0002795	HP:0002878	Respiratory failure	2	SFTPC CL E G H	6440	10802	ORPHA:70587	Infant acute respiratory distress syndrome	HP:0040282 - Frequent		33
HP:0002795	HP:0500165	Abnormal blood oxygen level	2	SFTPC CL E G H	6440	10802	ORPHA:70587	Infant acute respiratory distress syndrome			33
HP:0002795	HP:0002094	Dyspnea	2	SFTPC CL E G H	6440	10802	OMIM:178500	Pulmonary fibrosis, idiopathic			33
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	SFTPC CL E G H	6440	10802	OMIM:178500	Pulmonary fibrosis, idiopathic			33
HP:0002795	HP:0045049	Abnormal DLCO	2	SFTPC CL E G H	6440	10802	OMIM:178500	Pulmonary fibrosis, idiopathic			33
HP:0002795	HP:0002094	Dyspnea	2	SFTPC CL E G H	6440	10802	OMIM:610913	Surfactant metabolism dysfunction, pulmonary, 2			33
HP:0002795	HP:0002789	Tachypnea	2	SFTPC CL E G H	6440	10802	OMIM:610913	Surfactant metabolism dysfunction, pulmonary, 2			33
HP:0002795	HP:0002878	Respiratory failure	2	SFTPC CL E G H	6440	10802	OMIM:610913	Surfactant metabolism dysfunction, pulmonary, 2			33
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	SFTPC CL E G H	6440	10802	OMIM:610913	Surfactant metabolism dysfunction, pulmonary, 2			33
HP:0002795	HP:0500165	Abnormal blood oxygen level	2	SFTPC CL E G H	6440	10802	OMIM:610913	Surfactant metabolism dysfunction, pulmonary, 2			33
HP:0002795	HP:0045049	Abnormal DLCO	2	SFTPC CL E G H	6440	10802	OMIM:610913	Surfactant metabolism dysfunction, pulmonary, 2			33
HP:0002795	HP:0032341	Reduced forced vital capacity	2	SFTPC CL E G H	6440	10802	OMIM:610913	Surfactant metabolism dysfunction, pulmonary, 2			33
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	SGCG CL E G H	6445	10809	OMIM:253700	Muscular dystrophy, limb-girdle, type 2C	.		83
HP:0002795	HP:0002094	Dyspnea	2	SH2B3 CL E G H	10019	29605	OMIM:133100	Erythrocytosis, familial, 1			4
HP:0002795	HP:0002104	Apnea	2	SH3BP2 CL E G H	6452	10825	ORPHA:184	Cherubism			177
HP:0002795	HP:0002781	Upper airway obstruction	2	SH3BP2 CL E G H	6452	10825	ORPHA:184	Cherubism	HP:0040283 - Occasional		177
HP:0002795	HP:0002791	Hypoventilation	2	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C			493
HP:0002795	HP:0002104	Apnea	2	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly			67
HP:0002795	HP:0002104	Apnea	2	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly			67
HP:0002795	HP:0002104	Apnea	2	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			67
HP:0002795	HP:0002104	Apnea	2	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly			67
HP:0002795	HP:0002643	Neonatal respiratory distress	2	SHPK CL E G H	23729	1492	ORPHA:440713	Isolated sedoheptulokinase deficiency			2
HP:0002795	HP:0002094	Dyspnea	2	SIK1 CL E G H	150094	11142	OMIM:616341	Deafness, autosomal dominant 67			11
HP:0002795	HP:0002104	Apnea	2	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome			40
HP:0002795	HP:0002104	Apnea	2	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0002795	HP:0002104	Apnea	2	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly			32
HP:0002795	HP:0002104	Apnea	2	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly			32
HP:0002795	HP:0002104	Apnea	2	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			32
HP:0002795	HP:0002104	Apnea	2	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly			32
HP:0002795	HP:0002104	Apnea	2	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome			150
HP:0002795	HP:0002104	Apnea	2	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040283 - Occasional		150
HP:0002795	HP:0032342	Reduced forced expiratory volume in one second	2	SLC11A1 CL E G H	6556	10907	ORPHA:586	Cystic fibrosis			2
HP:0002795	HP:0002094	Dyspnea	2	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome			145
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy	.		163
HP:0002795	HP:0010307	Stridor	2	SLC18A2 CL E G H	6571	10935	ORPHA:352649	Brain dopamine-serotonin vesicular transport disease	HP:0040281 - Very frequent		2
HP:0002795	HP:0002104	Apnea	2	SLC18A3 CL E G H	6572	10936	OMIM:617239	Myasthenic syndrome, congenital, 21, presynaptic	.		2
HP:0002795	HP:0002094	Dyspnea	2	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0002795	HP:0002104	Apnea	2	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0002795	HP:0005943	Respiratory arrest	2	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		2
HP:0002795	HP:0010307	Stridor	2	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		2
HP:0002795	HP:0002104	Apnea	2	SLC19A3 CL E G H	80704	16266	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		110
HP:0002795	HP:0002094	Dyspnea	2	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood			63
HP:0002795	HP:0002104	Apnea	2	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional		63
HP:0002795	HP:0002094	Dyspnea	2	SLC22A5 CL E G H	6584	10969	OMIM:212140	Carnitine deficiency, systemic primary			207
HP:0002795	HP:0002094	Dyspnea	2	SLC25A1 CL E G H	6576	10979	OMIM:615182	Combined d-2- and l-2-hydroxyglutaric aciduria	.		28
HP:0002795	HP:0010307	Stridor	2	SLC25A1 CL E G H	6576	10979	OMIM:615182	Combined d-2- and l-2-hydroxyglutaric aciduria	.		28
HP:0002795	HP:0002094	Dyspnea	2	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes			28
HP:0002795	HP:0002104	Apnea	2	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes			28
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes			28
HP:0002795	HP:0005943	Respiratory arrest	2	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		28
HP:0002795	HP:0010307	Stridor	2	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		28
HP:0002795	HP:0002104	Apnea	2	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39			44
HP:0002795	HP:0002789	Tachypnea	2	SLC25A15 CL E G H	10166	10985	ORPHA:415	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	HP:0040282 - Frequent		88
HP:0002795	HP:0002104	Apnea	2	SLC25A20 CL E G H	788	1421	ORPHA:159	Carnitine-acylcarnitine translocase deficiency			40
HP:0002795	HP:0005943	Respiratory arrest	2	SLC25A20 CL E G H	788	1421	OMIM:212138	Carnitine-acylcarnitine translocase deficiency			40
HP:0002795	HP:0032341	Reduced forced vital capacity	2	SLC25A21 CL E G H	89874	14411	OMIM:618811	MITOCHONDRIAL DNA DEPLETION SYNDROME 18; MTDPS18
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0002795	HP:0002878	Respiratory failure	2	SLC25A26 CL E G H	115286	20661	OMIM:616794	Combined oxidative phosphorylation deficiency 28			5
HP:0002795	HP:0002094	Dyspnea	2	SLC25A3 CL E G H	5250	10989	ORPHA:91130	Cardiomyopathy-hypotonia-lactic acidosis syndrome			35
HP:0002795	HP:0002094	Dyspnea	2	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			68
HP:0002795	HP:0002094	Dyspnea	2	SLC25A4 CL E G H	291	10990	OMIM:615418	Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)			68
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	SLC25A4 CL E G H	291	10990	OMIM:617184	Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant	.		68
HP:0002795	HP:0002878	Respiratory failure	2	SLC25A46 CL E G H	91137	25198	OMIM:616505	Neuropathy, hereditary motor and sensory, type VIB	HP:0040284 - Very rare		14
HP:0002795	HP:0002878	Respiratory failure	2	SLC25A46 CL E G H	91137	25198	ORPHA:2254	Pontocerebellar hypoplasia type 1			14
HP:0002795	HP:0010307	Stridor	2	SLC25A46 CL E G H	91137	25198	ORPHA:2254	Pontocerebellar hypoplasia type 1			14
HP:0002795	HP:0004887	Respiratory failure requiring assisted ventilation	2	SLC25A46 CL E G H	91137	25198	OMIM:619303	PONTOCEREBELLAR HYPOPLASIA, TYPE 1E; PCH1E			14
HP:0002795	HP:0032342	Reduced forced expiratory volume in one second	2	SLC26A9 CL E G H	115019	14469	ORPHA:586	Cystic fibrosis			5
HP:0002795	HP:0002643	Neonatal respiratory distress	2	SLC27A4 CL E G H	10999	10998	OMIM:608649	ICHTHYOSIS PREMATURITY SYNDROME; IPS			26
HP:0002795	HP:0002643	Neonatal respiratory distress	2	SLC27A4 CL E G H	10999	10998	ORPHA:88621	Ichthyosis-prematurity syndrome	HP:0040281 - Very frequent		26
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome			68
HP:0002795	HP:0002883	Hyperventilation	2	SLC2A1 CL E G H	6513	11005	ORPHA:64280	Childhood absence epilepsy	HP:0040283 - Occasional		255
HP:0002795	HP:0002104	Apnea	2	SLC2A1 CL E G H	6513	11005	ORPHA:71277	Classic glucose transporter type 1 deficiency syndrome			255
HP:0002795	HP:0002094	Dyspnea	2	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome	HP:0040283 - Occasional		178
HP:0002795	HP:0002878	Respiratory failure	2	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome	HP:0040283 - Occasional		178
HP:0002795	HP:0005943	Respiratory arrest	2	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome			178
HP:0002795	HP:0002643	Neonatal respiratory distress	2	SLC30A9 CL E G H	10463	1329	OMIM:617595	Birk-Landau-Perez syndrome			1
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	SLC34A2 CL E G H	10568	11020	ORPHA:60025	Pulmonary alveolar microlithiasis	HP:0040282 - Frequent		7
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	SLC34A2 CL E G H	10568	11020	OMIM:265100	Pulmonary alveolar microlithiasis	.		7
HP:0002795	HP:0002094	Dyspnea	2	SLC34A2 CL E G H	10568	11020	ORPHA:60025	Pulmonary alveolar microlithiasis	HP:0040282 - Frequent		7
HP:0002795	HP:0002789	Tachypnea	2	SLC34A2 CL E G H	10568	11020	ORPHA:60025	Pulmonary alveolar microlithiasis	HP:0040283 - Occasional		7
HP:0002795	HP:0002878	Respiratory failure	2	SLC34A2 CL E G H	10568	11020	ORPHA:60025	Pulmonary alveolar microlithiasis	HP:0040284 - Very rare		7
HP:0002795	HP:0005317	Increased pulmonary vascular resistance	2	SLC34A2 CL E G H	10568	11020	ORPHA:60025	Pulmonary alveolar microlithiasis	HP:0040282 - Frequent		7
HP:0002795	HP:0500165	Abnormal blood oxygen level	2	SLC34A2 CL E G H	10568	11020	ORPHA:60025	Pulmonary alveolar microlithiasis			7
HP:0002795	HP:0031246	Nonproductive cough	2	SLC34A2 CL E G H	10568	11020	ORPHA:60025	Pulmonary alveolar microlithiasis	HP:0040282 - Frequent		7
HP:0002795	HP:0002094	Dyspnea	2	SLC35A1 CL E G H	10559	11021	ORPHA:238459	SLC35A1-CDG			24
HP:0002795	HP:0500165	Abnormal blood oxygen level	2	SLC35A1 CL E G H	10559	11021	ORPHA:238459	SLC35A1-CDG			24
HP:0002795	HP:0030950	Pulmonary venous hypertension	2	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib	HP:0040283 - Occasional		110
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic			110
HP:0002795	HP:0002104	Apnea	2	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG			11
HP:0002795	HP:0030950	Pulmonary venous hypertension	2	SLC4A1 CL E G H	6521	11027	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040284 - Very rare		109
HP:0002795	HP:0002094	Dyspnea	2	SLC52A3 CL E G H	113278	16187	OMIM:211530	Brown-Vialetto-Van laere syndrome 1	.		51
HP:0002795	HP:0002791	Hypoventilation	2	SLC52A3 CL E G H	113278	16187	OMIM:211530	Brown-Vialetto-Van laere syndrome 1			51
HP:0002795	HP:0010307	Stridor	2	SLC52A3 CL E G H	113278	16187	OMIM:211530	Brown-Vialetto-Van laere syndrome 1	.		51
HP:0002795	HP:0010307	Stridor	2	SLC52A3 CL E G H	113278	16187	OMIM:211500	Bulbar palsy, progressive, of childhood			51
HP:0002795	HP:0002104	Apnea	2	SLC5A7 CL E G H	60482	14025	OMIM:617143	Myasthenic syndrome, congenital, 20, presynaptic	.		9
HP:0002795	HP:0002791	Hypoventilation	2	SLC5A7 CL E G H	60482	14025	OMIM:617143	Myasthenic syndrome, congenital, 20, presynaptic	.		9
HP:0002795	HP:0010307	Stridor	2	SLC5A7 CL E G H	60482	14025	OMIM:617143	Myasthenic syndrome, congenital, 20, presynaptic	.		9
HP:0002795	HP:0002094	Dyspnea	2	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes			9
HP:0002795	HP:0002104	Apnea	2	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes			9
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes			9
HP:0002795	HP:0005943	Respiratory arrest	2	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		9
HP:0002795	HP:0010307	Stridor	2	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		9
HP:0002795	HP:0032342	Reduced forced expiratory volume in one second	2	SLC6A14 CL E G H	11254	11047	ORPHA:586	Cystic fibrosis
HP:0002795	HP:0002104	Apnea	2	SLC6A5 CL E G H	9152	11051	OMIM:614618	Hyperekplexia 3	.	HP:0003623 - Neonatal onset	81
HP:0002795	HP:0005943	Respiratory arrest	2	SLC6A5 CL E G H	9152	11051	OMIM:614618	Hyperekplexia 3			81
HP:0002795	HP:0002104	Apnea	2	SLC6A9 CL E G H	6536	11056	OMIM:617301	Glycine encephalopathy with normal serum glycine	.		4
HP:0002795	HP:0002878	Respiratory failure	2	SLC6A9 CL E G H	6536	11056	OMIM:617301	Glycine encephalopathy with normal serum glycine			4
HP:0002795	HP:0032342	Reduced forced expiratory volume in one second	2	SLC9A3 CL E G H	6550	11073	ORPHA:586	Cystic fibrosis			7
HP:0002795	HP:0002094	Dyspnea	2	SMAD2 CL E G H	4087	6768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			7
HP:0002795	HP:0002094	Dyspnea	2	SMAD3 CL E G H	4088	6769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			260
HP:0002795	HP:0002094	Dyspnea	2	SMAD4 CL E G H	4089	6770	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			504
HP:0002795	HP:0002204	Pulmonary embolism	2	SMAD4 CL E G H	4089	6770	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional		504
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	SMAD4 CL E G H	4089	6770	ORPHA:774	Hereditary hemorrhagic telangiectasia			504
HP:0002795	HP:0002878	Respiratory failure	2	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome	HP:0040283 - Occasional		504
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	SMAD9 CL E G H	4093	6774	OMIM:615342	Pulmonary hypertension, primary, 2			132
HP:0002795	HP:0005317	Increased pulmonary vascular resistance	2	SMAD9 CL E G H	4093	6774	OMIM:615342	Pulmonary hypertension, primary, 2	.		132
HP:0002795	HP:0002643	Neonatal respiratory distress	2	SMARCA2 CL E G H	6595	11098	ORPHA:2728	Blepharophimosis-intellectual disability syndrome, Ohdo type			146
HP:0002795	HP:0002094	Dyspnea	2	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type			74
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type			74
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia			74
HP:0002795	HP:0002104	Apnea	2	SMC1A CL E G H	8243	11111	ORPHA:3095	Atypical Rett syndrome			135
HP:0002795	HP:0002789	Tachypnea	2	SMC1A CL E G H	8243	11111	ORPHA:3095	Atypical Rett syndrome			135
HP:0002795	HP:0002104	Apnea	2	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly			135
HP:0002795	HP:0002878	Respiratory failure	2	SMN1 CL E G H	6606	11117	OMIM:253300	Spinal muscular atrophy, type I	.		22
HP:0002795	HP:0004887	Respiratory failure requiring assisted ventilation	2	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B	HP:0040283 - Occasional		164
HP:0002795	HP:0002094	Dyspnea	2	SMPD1 CL E G H	6609	11120	OMIM:607616	Niemann-pick disease, type B	.		164
HP:0002795	HP:0045049	Abnormal DLCO	2	SMPD1 CL E G H	6609	11120	OMIM:607616	Niemann-pick disease, type B			164
HP:0002795	HP:0002643	Neonatal respiratory distress	2	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA			1
HP:0002795	HP:0002643	Neonatal respiratory distress	2	SNAP25 CL E G H	6616	11132	OMIM:616330	Myasthenic syndrome, congenital, 18			2
HP:0002795	HP:0002094	Dyspnea	2	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0002795	HP:0002104	Apnea	2	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0002795	HP:0005943	Respiratory arrest	2	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		2
HP:0002795	HP:0010307	Stridor	2	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		2
HP:0002795	HP:0002104	Apnea	2	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0002795	HP:0002791	Hypoventilation	2	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome	.
HP:0002795	HP:0002104	Apnea	2	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0002795	HP:0002791	Hypoventilation	2	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome	.
HP:0002795	HP:0002643	Neonatal respiratory distress	2	SNRPB CL E G H	6628	11153	ORPHA:1393	Cerebrocostomandibular syndrome	HP:0040281 - Very frequent		6
HP:0002795	HP:0002643	Neonatal respiratory distress	2	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome	.		6
HP:0002795	HP:0002104	Apnea	2	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			37
HP:0002795	HP:0002104	Apnea	2	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			37
HP:0002795	HP:0002104	Apnea	2	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			37
HP:0002795	HP:0002094	Dyspnea	2	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation			37
HP:0002795	HP:0002104	Apnea	2	SNX10 CL E G H	29887	14974	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040283 - Occasional		2
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	SNX10 CL E G H	29887	14974	ORPHA:667	Autosomal recessive malignant osteopetrosis			2
HP:0002795	HP:0002094	Dyspnea	2	SOD1 CL E G H	6647	11179	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		53
HP:0002795	HP:0002878	Respiratory failure	2	SOD1 CL E G H	6647	11179	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		53
HP:0002795	HP:0002104	Apnea	2	SOD1 CL E G H	6647	11179	OMIM:105400	Amyotrophic lateral sclerosis 1			53
HP:0002795	HP:0002878	Respiratory failure	2	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional		12
HP:0002795	HP:0002094	Dyspnea	2	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia			109
HP:0002795	HP:0002104	Apnea	2	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia	.		109
HP:0002795	HP:0002643	Neonatal respiratory distress	2	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia			109
HP:0002795	HP:0010307	Stridor	2	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia			109
HP:0002795	HP:0002643	Neonatal respiratory distress	2	SOX9 CL E G H	6662	11204	ORPHA:718	Isolated Pierre Robin syndrome	HP:0040282 - Frequent		109
HP:0002795	HP:0002781	Upper airway obstruction	2	SOX9 CL E G H	6662	11204	ORPHA:718	Isolated Pierre Robin syndrome	HP:0040282 - Frequent		109
HP:0002795	HP:0002643	Neonatal respiratory distress	2	SPAG1 CL E G H	6674	11212	OMIM:615505	Ciliary dyskinesia, primary, 28			45
HP:0002795	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	2	SPAG1 CL E G H	6674	11212	OMIM:615505	Ciliary dyskinesia, primary, 28	.		45
HP:0002795	HP:0012262	Abnormal ciliary motility	2	SPAG1 CL E G H	6674	11212	OMIM:615505	Ciliary dyskinesia, primary, 28			45
HP:0002795	HP:0002643	Neonatal respiratory distress	2	SPAG1 CL E G H	6674	11212	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		45
HP:0002795	HP:0002878	Respiratory failure	2	SPAG1 CL E G H	6674	11212	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		45
HP:0002795	HP:0030828	Wheezing	2	SPAG1 CL E G H	6674	11212	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		45
HP:0002795	HP:0031245	Productive cough	2	SPAG1 CL E G H	6674	11212	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		45
HP:0002795	HP:0002643	Neonatal respiratory distress	2	SPEF2 CL E G H	79925	26293	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		15
HP:0002795	HP:0002878	Respiratory failure	2	SPEF2 CL E G H	79925	26293	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		15
HP:0002795	HP:0030828	Wheezing	2	SPEF2 CL E G H	79925	26293	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		15
HP:0002795	HP:0031245	Productive cough	2	SPEF2 CL E G H	79925	26293	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		15
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	SPG11 CL E G H	80208	11226	OMIM:602099	Amyotrophic lateral sclerosis 5, juvenile	.		287
HP:0002795	HP:0002643	Neonatal respiratory distress	2	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1			16
HP:0002795	HP:0002104	Apnea	2	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2			16
HP:0002795	HP:0002094	Dyspnea	2	SPP1 CL E G H	6696	11255	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040283 - Occasional
HP:0002795	HP:0002094	Dyspnea	2	SQSTM1 CL E G H	8878	11280	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		62
HP:0002795	HP:0002878	Respiratory failure	2	SQSTM1 CL E G H	8878	11280	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		62
HP:0002795	HP:0031417	Rhinorrhea	2	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary	.		1
HP:0002795	HP:0002094	Dyspnea	2	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1
HP:0002795	HP:0002643	Neonatal respiratory distress	2	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1	.
HP:0002795	HP:0002104	Apnea	2	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional		50
HP:0002795	HP:0002104	Apnea	2	SRPX2 CL E G H	27286	30668	ORPHA:1945	Rolandic epilepsy			50
HP:0002795	HP:0002094	Dyspnea	2	SSR4 CL E G H	6748	11326	OMIM:300934	Congenital disorder of glycosylation, type Iy			12
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	STAC3 CL E G H	246329	28423	OMIM:255995	Myopathy, congenital, bailey-bloch	.		14
HP:0002795	HP:0002104	Apnea	2	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly			1
HP:0002795	HP:0002104	Apnea	2	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly			1
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome			89
HP:0002795	HP:0002104	Apnea	2	STAT2 CL E G H	6773	11363	OMIM:618886	PSEUDO-TORCH SYNDROME 3; PTORCH3			9
HP:0002795	HP:0002094	Dyspnea	2	STAT3 CL E G H	6774	11364	ORPHA:520	Acute promyelocytic leukemia			110
HP:0002795	HP:0031245	Productive cough	2	STAT3 CL E G H	6774	11364	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional		110
HP:0002795	HP:0002204	Pulmonary embolism	2	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease	HP:0040283 - Occasional		2
HP:0002795	HP:0002094	Dyspnea	2	STAT4 CL E G H	6775	11365	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040283 - Occasional		2
HP:0002795	HP:0002094	Dyspnea	2	STAT5B CL E G H	6777	11367	ORPHA:520	Acute promyelocytic leukemia			12
HP:0002795	HP:0031245	Productive cough	2	STAT5B CL E G H	6777	11367	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional		12
HP:0002795	HP:0002094	Dyspnea	2	STAT5B CL E G H	6777	11367	OMIM:245590	GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY			12
HP:0002795	HP:0002104	Apnea	2	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly			99
HP:0002795	HP:0002104	Apnea	2	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly			99
HP:0002795	HP:0002104	Apnea	2	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			99
HP:0002795	HP:0002104	Apnea	2	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly			99
HP:0002795	HP:0002789	Tachypnea	2	STING1 CL E G H	340061	27962	OMIM:615934	STING-associated vasculopathy, infantile-onset
HP:0002795	HP:0012262	Abnormal ciliary motility	2	STK36 CL E G H	27148	17209	OMIM:619436	CILIARY DYSKINESIA, PRIMARY, 46; CILD46			3
HP:0002795	HP:0032341	Reduced forced vital capacity	2	STK36 CL E G H	27148	17209	OMIM:619436	CILIARY DYSKINESIA, PRIMARY, 46; CILD46			3
HP:0002795	HP:0032342	Reduced forced expiratory volume in one second	2	STK36 CL E G H	27148	17209	OMIM:619436	CILIARY DYSKINESIA, PRIMARY, 46; CILD46			3
HP:0002795	HP:0002643	Neonatal respiratory distress	2	STK36 CL E G H	27148	17209	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		3
HP:0002795	HP:0002878	Respiratory failure	2	STK36 CL E G H	27148	17209	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		3
HP:0002795	HP:0030828	Wheezing	2	STK36 CL E G H	27148	17209	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		3
HP:0002795	HP:0031245	Productive cough	2	STK36 CL E G H	27148	17209	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		3
HP:0002795	HP:0002094	Dyspnea	2	STN1 CL E G H	79991	26200	ORPHA:2032	Idiopathic pulmonary fibrosis			2
HP:0002795	HP:0030830	Crackles	2	STN1 CL E G H	79991	26200	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent		2
HP:0002795	HP:0002094	Dyspnea	2	STT3B CL E G H	201595	30611	OMIM:615597	Congenital disorder of glycosylation, type Ix			18
HP:0002795	HP:0002094	Dyspnea	2	STT3B CL E G H	201595	30611	ORPHA:370924	STT3B-CDG			18
HP:0002795	HP:0002094	Dyspnea	2	STX16 CL E G H	8675	11431	ORPHA:94089	Pseudohypoparathyroidism type 1B	HP:0040283 - Occasional		86
HP:0002795	HP:0032342	Reduced forced expiratory volume in one second	2	STX1A CL E G H	6804	11433	ORPHA:586	Cystic fibrosis
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	SUCLA2 CL E G H	8803	11448	OMIM:612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)	.		66
HP:0002795	HP:0002094	Dyspnea	2	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria			60
HP:0002795	HP:0002104	Apnea	2	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria	HP:0040283 - Occasional		60
HP:0002795	HP:0002643	Neonatal respiratory distress	2	SUCLG1 CL E G H	8802	11449	OMIM:245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)			60
HP:0002795	HP:0002878	Respiratory failure	2	SUCLG1 CL E G H	8802	11449	OMIM:245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)			60
HP:0002795	HP:0002104	Apnea	2	SUFU CL E G H	51684	16466	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		124
HP:0002795	HP:0002789	Tachypnea	2	SUFU CL E G H	51684	16466	ORPHA:475	Joubert syndrome			124
HP:0002795	HP:0002094	Dyspnea	2	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy			73
HP:0002795	HP:0002104	Apnea	2	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		73
HP:0002795	HP:0002791	Hypoventilation	2	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy			73
HP:0002795	HP:0002878	Respiratory failure	2	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		73
HP:0002795	HP:0002104	Apnea	2	SURF1 CL E G H	6834	11474	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		73
HP:0002795	HP:0002094	Dyspnea	2	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency			73
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency	.		73
HP:0002795	HP:0002878	Respiratory failure	2	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency			73
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	SYNE1 CL E G H	23345	17089	OMIM:618484	Arthrogryposis multiplex congenita, Myogenic type	HP:0040284 - Very rare		1129
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040284 - Very rare		1129
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040284 - Very rare		508
HP:0002795	HP:0002104	Apnea	2	SYT1 CL E G H	6857	11509	OMIM:618218	Baker-Gordon syndrome			1
HP:0002795	HP:0002104	Apnea	2	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome			1
HP:0002795	HP:0002883	Hyperventilation	2	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome	HP:0040283 - Occasional		1
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	SYT2 CL E G H	127833	11510	OMIM:619461	MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B			4
HP:0002795	HP:0032341	Reduced forced vital capacity	2	SYT2 CL E G H	127833	11510	OMIM:619461	MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B			4
HP:0002795	HP:0002094	Dyspnea	2	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes			4
HP:0002795	HP:0002104	Apnea	2	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes			4
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes			4
HP:0002795	HP:0005943	Respiratory arrest	2	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		4
HP:0002795	HP:0010307	Stridor	2	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		4
HP:0002795	HP:0002104	Apnea	2	TACO1 CL E G H	51204	24316	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		23
HP:0002795	HP:0002094	Dyspnea	2	TAF15 CL E G H	8148	11547	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0002795	HP:0002878	Respiratory failure	2	TAF15 CL E G H	8148	11547	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0002795	HP:0002094	Dyspnea	2	TARDBP CL E G H	23435	11571	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		65
HP:0002795	HP:0002878	Respiratory failure	2	TARDBP CL E G H	23435	11571	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		65
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	TARDBP CL E G H	23435	11571	OMIM:612069	Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia	.		65
HP:0002795	HP:0025428	Bronchospasm	2	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0002795	HP:0002094	Dyspnea	2	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome			271
HP:0002795	HP:0002878	Respiratory failure	2	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	HP:0040282 - Frequent		16
HP:0002795	HP:0004887	Respiratory failure requiring assisted ventilation	2	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	HP:0040283 - Occasional		16
HP:0002795	HP:0002094	Dyspnea	2	TBK1 CL E G H	29110	11584	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		20
HP:0002795	HP:0002878	Respiratory failure	2	TBK1 CL E G H	29110	11584	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		20
HP:0002795	HP:0004887	Respiratory failure requiring assisted ventilation	2	TBK1 CL E G H	29110	11584	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040282 - Frequent		20
HP:0002795	HP:0002094	Dyspnea	2	TBL1XR1 CL E G H	79718	29529	ORPHA:520	Acute promyelocytic leukemia			22
HP:0002795	HP:0031245	Productive cough	2	TBL1XR1 CL E G H	79718	29529	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional		22
HP:0002795	HP:0002104	Apnea	2	TBR1 CL E G H	10716	11590	ORPHA:1617	2q24 microdeletion syndrome			1
HP:0002795	HP:0006510	Chronic pulmonary obstruction	2	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		32
HP:0002795	HP:0006510	Chronic pulmonary obstruction	2	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome			32
HP:0002795	HP:0002094	Dyspnea	2	TBX20 CL E G H	57057	11598	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional		20
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	TBX20 CL E G H	57057	11598	ORPHA:99103	Atrial septal defect, ostium secundum type			20
HP:0002795	HP:0005317	Increased pulmonary vascular resistance	2	TBX20 CL E G H	57057	11598	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040284 - Very rare		20
HP:0002795	HP:4000007	Bronchoconstriction	2	TBX21 CL E G H	30009	11599	OMIM:208550	Asthma, nasal polyps, and aspirin intolerance	.		1
HP:0002795	HP:0012042	Aspirin-induced asthma	2	TBX21 CL E G H	30009	11599	OMIM:208550	Asthma, nasal polyps, and aspirin intolerance	.		1
HP:0002795	HP:0002094	Dyspnea	2	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome	HP:0040283 - Occasional		55
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome			55
HP:0002795	HP:0002104	Apnea	2	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome			241
HP:0002795	HP:0002883	Hyperventilation	2	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome	HP:0040282 - Frequent		241
HP:0002795	HP:0002883	Hyperventilation	2	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome	.		241
HP:0002795	HP:0002104	Apnea	2	TCIRG1 CL E G H	10312	11647	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040283 - Occasional		82
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	TCIRG1 CL E G H	10312	11647	ORPHA:667	Autosomal recessive malignant osteopetrosis			82
HP:0002795	HP:0002104	Apnea	2	TCTN1 CL E G H	79600	26113	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		45
HP:0002795	HP:0002789	Tachypnea	2	TCTN1 CL E G H	79600	26113	ORPHA:475	Joubert syndrome			45
HP:0002795	HP:0002104	Apnea	2	TCTN2 CL E G H	79867	25774	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		76
HP:0002795	HP:0002789	Tachypnea	2	TCTN2 CL E G H	79867	25774	ORPHA:475	Joubert syndrome			76
HP:0002795	HP:0002104	Apnea	2	TCTN3 CL E G H	26123	24519	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional		31
HP:0002795	HP:0002789	Tachypnea	2	TCTN3 CL E G H	26123	24519	ORPHA:2754	Orofaciodigital syndrome type 6			31
HP:0002795	HP:0002104	Apnea	2	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly			1
HP:0002795	HP:0002104	Apnea	2	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly			1
HP:0002795	HP:0002104	Apnea	2	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			1
HP:0002795	HP:0002104	Apnea	2	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly			1
HP:0002795	HP:0002104	Apnea	2	TECPR2 CL E G H	9895	19957	ORPHA:320385	Hereditary sensory and autonomic neuropathy due to TECPR2 mutation			39
HP:0002795	HP:0002104	Apnea	2	TECPR2 CL E G H	9895	19957	OMIM:615031	Spastic paraplegia 49, autosomal recessive			39
HP:0002795	HP:0002094	Dyspnea	2	TERC CL E G H	7012	11727	ORPHA:2032	Idiopathic pulmonary fibrosis			48
HP:0002795	HP:0030830	Crackles	2	TERC CL E G H	7012	11727	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent		48
HP:0002795	HP:0002094	Dyspnea	2	TERT CL E G H	7015	11730	ORPHA:2032	Idiopathic pulmonary fibrosis			238
HP:0002795	HP:0030830	Crackles	2	TERT CL E G H	7015	11730	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent		238
HP:0002795	HP:0002094	Dyspnea	2	TERT CL E G H	7015	11730	OMIM:614742	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1			238
HP:0002795	HP:0002104	Apnea	2	TERT CL E G H	7015	11730	OMIM:614742	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1			238
HP:0002795	HP:0045049	Abnormal DLCO	2	TERT CL E G H	7015	11730	OMIM:614742	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1			238
HP:0002795	HP:0030830	Crackles	2	TERT CL E G H	7015	11730	OMIM:614742	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1			238
HP:0002795	HP:0002094	Dyspnea	2	TERT CL E G H	7015	11730	OMIM:178500	Pulmonary fibrosis, idiopathic			238
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	TERT CL E G H	7015	11730	OMIM:178500	Pulmonary fibrosis, idiopathic			238
HP:0002795	HP:0045049	Abnormal DLCO	2	TERT CL E G H	7015	11730	OMIM:178500	Pulmonary fibrosis, idiopathic			238
HP:0002795	HP:0002204	Pulmonary embolism	2	TET2 CL E G H	54790	25941	ORPHA:729	Polycythemia vera	HP:0040283 - Occasional		3
HP:0002795	HP:0002094	Dyspnea	2	TET2 CL E G H	54790	25941	ORPHA:98826	Refractory anemia	HP:0040283 - Occasional		3
HP:0002795	HP:0002094	Dyspnea	2	TFG CL E G H	10342	11758	ORPHA:90117	Hereditary motor and sensory neuropathy, Okinawa type	HP:0040283 - Occasional		18
HP:0002795	HP:0002878	Respiratory failure	2	TFG CL E G H	10342	11758	ORPHA:90117	Hereditary motor and sensory neuropathy, Okinawa type	HP:0040283 - Occasional		18
HP:0002795	HP:0004887	Respiratory failure requiring assisted ventilation	2	TFG CL E G H	10342	11758	ORPHA:90117	Hereditary motor and sensory neuropathy, Okinawa type	HP:0040283 - Occasional		18
HP:0002795	HP:0032341	Reduced forced vital capacity	2	TGFB1 CL E G H	7040	11766	OMIM:219700	Cystic fibrosis			13
HP:0002795	HP:0032342	Reduced forced expiratory volume in one second	2	TGFB1 CL E G H	7040	11766	ORPHA:586	Cystic fibrosis			13
HP:0002795	HP:0032342	Reduced forced expiratory volume in one second	2	TGFB1 CL E G H	7040	11766	OMIM:219700	Cystic fibrosis			13
HP:0002795	HP:0032359	Decreased forced expiratory flow 25-75%	2	TGFB1 CL E G H	7040	11766	OMIM:219700	Cystic fibrosis			13
HP:0002795	HP:0002094	Dyspnea	2	TGFB2 CL E G H	7042	11768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			162
HP:0002795	HP:0002094	Dyspnea	2	TGFB3 CL E G H	7043	11769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			85
HP:0002795	HP:0002094	Dyspnea	2	TGFBR1 CL E G H	7046	11772	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			239
HP:0002795	HP:0002094	Dyspnea	2	TGFBR2 CL E G H	7048	11773	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			253
HP:0002795	HP:0002104	Apnea	2	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly			32
HP:0002795	HP:0002104	Apnea	2	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly			32
HP:0002795	HP:0002104	Apnea	2	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			32
HP:0002795	HP:0002104	Apnea	2	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly			32
HP:0002795	HP:0002204	Pulmonary embolism	2	THBD CL E G H	7056	11784	OMIM:614486	Thrombophilia due to thrombomodulin defect			60
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	THPO CL E G H	7066	11795	ORPHA:71493	Familial thrombocytosis			23
HP:0002795	HP:0006510	Chronic pulmonary obstruction	2	THSD4 CL E G H	79875	25835	OMIM:619825	AORTIC ANEURYSM, FAMILIAL THORACIC 12; AAT12			2
HP:0002795	HP:0004887	Respiratory failure requiring assisted ventilation	2	TICAM1 CL E G H	148022	18348	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040282 - Frequent		6
HP:0002795	HP:0045049	Abnormal DLCO	2	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3			60
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	TK2 CL E G H	7084	11831	OMIM:609560	Mitochondrial DNA depletion syndrome 2 (myopathic type)	.		103
HP:0002795	HP:0002094	Dyspnea	2	TK2 CL E G H	7084	11831	ORPHA:254875	Mitochondrial DNA depletion syndrome, myopathic form			103
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	TK2 CL E G H	7084	11831	ORPHA:254875	Mitochondrial DNA depletion syndrome, myopathic form	HP:0040282 - Frequent		103
HP:0002795	HP:0002878	Respiratory failure	2	TK2 CL E G H	7084	11831	ORPHA:254875	Mitochondrial DNA depletion syndrome, myopathic form	HP:0040282 - Frequent		103
HP:0002795	HP:0004887	Respiratory failure requiring assisted ventilation	2	TK2 CL E G H	7084	11831	ORPHA:254875	Mitochondrial DNA depletion syndrome, myopathic form			103
HP:0002795	HP:0002883	Hyperventilation	2	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57			1
HP:0002795	HP:0002094	Dyspnea	2	TLL1 CL E G H	7092	11843	ORPHA:99106	Atrial septal defect, ostium primum type	HP:0040283 - Occasional		6
HP:0002795	HP:0002789	Tachypnea	2	TLL1 CL E G H	7092	11843	ORPHA:99106	Atrial septal defect, ostium primum type	HP:0040283 - Occasional		6
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	TLL1 CL E G H	7092	11843	ORPHA:99106	Atrial septal defect, ostium primum type			6
HP:0002795	HP:0002094	Dyspnea	2	TLL1 CL E G H	7092	11843	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional		6
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	TLL1 CL E G H	7092	11843	ORPHA:99103	Atrial septal defect, ostium secundum type			6
HP:0002795	HP:0005317	Increased pulmonary vascular resistance	2	TLL1 CL E G H	7092	11843	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040284 - Very rare		6
HP:0002795	HP:0004887	Respiratory failure requiring assisted ventilation	2	TLR3 CL E G H	7098	11849	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040282 - Frequent		3
HP:0002795	HP:0002204	Pulmonary embolism	2	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease	HP:0040283 - Occasional		3
HP:0002795	HP:0002104	Apnea	2	TMEM107 CL E G H	84314	28128	OMIM:617563	Orofaciodigital syndrome XVI	.		4
HP:0002795	HP:0002104	Apnea	2	TMEM138 CL E G H	51524	26944	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040281 - Very frequent		39
HP:0002795	HP:0002789	Tachypnea	2	TMEM138 CL E G H	51524	26944	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040281 - Very frequent		39
HP:0002795	HP:0002104	Apnea	2	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2			45
HP:0002795	HP:0002789	Tachypnea	2	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2			45
HP:0002795	HP:0002790	Neonatal breathing dysregulation	2	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2	.		45
HP:0002795	HP:0002104	Apnea	2	TMEM216 CL E G H	51259	25018	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040281 - Very frequent		45
HP:0002795	HP:0002789	Tachypnea	2	TMEM216 CL E G H	51259	25018	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040281 - Very frequent		45
HP:0002795	HP:0002104	Apnea	2	TMEM216 CL E G H	51259	25018	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional		45
HP:0002795	HP:0002789	Tachypnea	2	TMEM216 CL E G H	51259	25018	ORPHA:2754	Orofaciodigital syndrome type 6			45
HP:0002795	HP:0002104	Apnea	2	TMEM218 CL E G H	219854	27344	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent
HP:0002795	HP:0002789	Tachypnea	2	TMEM218 CL E G H	219854	27344	ORPHA:475	Joubert syndrome
HP:0002795	HP:0040213	Hypopnea	2	TMEM218 CL E G H	219854	27344	OMIM:619562	JOUBERT SYNDROME 39; JBTS39
HP:0002795	HP:0002104	Apnea	2	TMEM231 CL E G H	79583	37234	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040281 - Very frequent		33
HP:0002795	HP:0002789	Tachypnea	2	TMEM231 CL E G H	79583	37234	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040281 - Very frequent		33
HP:0002795	HP:0002104	Apnea	2	TMEM237 CL E G H	65062	14432	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		82
HP:0002795	HP:0002789	Tachypnea	2	TMEM237 CL E G H	65062	14432	ORPHA:475	Joubert syndrome			82
HP:0002795	HP:0002104	Apnea	2	TMEM237 CL E G H	65062	14432	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040281 - Very frequent		82
HP:0002795	HP:0002789	Tachypnea	2	TMEM237 CL E G H	65062	14432	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040281 - Very frequent		82
HP:0002795	HP:0002104	Apnea	2	TMEM237 CL E G H	65062	14432	ORPHA:220497	Joubert syndrome with renal defect	HP:0040281 - Very frequent		82
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040284 - Very rare		171
HP:0002795	HP:0002104	Apnea	2	TMEM67 CL E G H	91147	28396	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		166
HP:0002795	HP:0002789	Tachypnea	2	TMEM67 CL E G H	91147	28396	ORPHA:475	Joubert syndrome			166
HP:0002795	HP:0002104	Apnea	2	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040281 - Very frequent		166
HP:0002795	HP:0002878	Respiratory failure	2	TMEM70 CL E G H	54968	26050	ORPHA:1194	TMEM70-related mitochondrial encephalo-cardio-myopathy	HP:0040282 - Frequent		63
HP:0002795	HP:4000007	Bronchoconstriction	2	TNF CL E G H	7124	11892	OMIM:600807	Asthma, susceptibility to	.		7
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	TNFRSF13B CL E G H	23495	18153	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional		32
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	TNFRSF13C CL E G H	115650	17755	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional		12
HP:0002795	HP:0002104	Apnea	2	TNFSF11 CL E G H	8600	11926	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040283 - Occasional		44
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	TNFSF11 CL E G H	8600	11926	ORPHA:667	Autosomal recessive malignant osteopetrosis			44
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	TNFSF12 CL E G H	8742	11927	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional		1
HP:0002795	HP:0002094	Dyspnea	2	TNNC1 CL E G H	7134	11943	OMIM:613243	Cardiomyopathy, familial hypertrophic, 13	.		73
HP:0002795	HP:0002094	Dyspnea	2	TNNI3 CL E G H	7137	11947	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040283 - Occasional		180
HP:0002795	HP:0030950	Pulmonary venous hypertension	2	TNNI3 CL E G H	7137	11947	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040282 - Frequent		180
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	TNNT1 CL E G H	7138	11948	ORPHA:98902	Amish nemaline myopathy	HP:0040283 - Occasional		37
HP:0002795	HP:0002094	Dyspnea	2	TNNT2 CL E G H	7139	11949	OMIM:115195	Cardiomyopathy, familial hypertrophic, 2			248
HP:0002795	HP:0002094	Dyspnea	2	TNNT2 CL E G H	7139	11949	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040283 - Occasional		248
HP:0002795	HP:0030950	Pulmonary venous hypertension	2	TNNT2 CL E G H	7139	11949	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040282 - Frequent		248
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	TNPO3 CL E G H	23534	17103	OMIM:608423	Muscular dystrophy, limb-girdle, autosomal dominant 2	HP:0040283 - Occasional		71
HP:0002795	HP:0002104	Apnea	2	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7	.		6
HP:0002795	HP:0002104	Apnea	2	TOGARAM1 CL E G H	23116	19959	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent
HP:0002795	HP:0002789	Tachypnea	2	TOGARAM1 CL E G H	23116	19959	ORPHA:475	Joubert syndrome
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
HP:0002795	HP:0002104	Apnea	2	TOPORS CL E G H	10210	21653	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional		61
HP:0002795	HP:0002789	Tachypnea	2	TOPORS CL E G H	10210	21653	ORPHA:2754	Orofaciodigital syndrome type 6			61
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5			47
HP:0002795	HP:0002643	Neonatal respiratory distress	2	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5			47
HP:0002795	HP:0032359	Decreased forced expiratory flow 25-75%	2	TOR1AIP1 CL E G H	26092	29456	OMIM:617072	Muscular dystrophy, limb-girdle, type 2Y			10
HP:0002795	HP:0002094	Dyspnea	2	TP73 CL E G H	7161	12003	OMIM:619466	CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY; CILD47
HP:0002795	HP:0002094	Dyspnea	2	TPI1 CL E G H	7167	12009	OMIM:615512	Triosephosphate isomerase deficiency			28
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	TPI1 CL E G H	7167	12009	OMIM:615512	Triosephosphate isomerase deficiency	.		28
HP:0002795	HP:0002878	Respiratory failure	2	TPI1 CL E G H	7167	12009	OMIM:615512	Triosephosphate isomerase deficiency			28
HP:0002795	HP:0002791	Hypoventilation	2	TPM2 CL E G H	7169	12011	ORPHA:171881	Cap myopathy			54
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		54
HP:0002795	HP:0002792	Reduced vital capacity	2	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		54
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		54
HP:0002795	HP:0002878	Respiratory failure	2	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		54
HP:0002795	HP:0004878	Intercostal muscle weakness	2	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		54
HP:0002795	HP:0500165	Abnormal blood oxygen level	2	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy			54
HP:0002795	HP:0500164	Abnormal blood carbon dioxide level	2	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy			54
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	TPM2 CL E G H	7169	12011	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.		54
HP:0002795	HP:0032341	Reduced forced vital capacity	2	TPM2 CL E G H	7169	12011	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.		54
HP:0002795	HP:0002792	Reduced vital capacity	2	TPM2 CL E G H	7169	12011	OMIM:609285	Nemaline myopathy 4	.		54
HP:0002795	HP:0002791	Hypoventilation	2	TPM2 CL E G H	7169	12011	ORPHA:171436	Typical nemaline myopathy			54
HP:0002795	HP:0002791	Hypoventilation	2	TPM3 CL E G H	7170	12012	ORPHA:171881	Cap myopathy			108
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		108
HP:0002795	HP:0002792	Reduced vital capacity	2	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		108
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		108
HP:0002795	HP:0002878	Respiratory failure	2	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		108
HP:0002795	HP:0004878	Intercostal muscle weakness	2	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		108
HP:0002795	HP:0500165	Abnormal blood oxygen level	2	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy			108
HP:0002795	HP:0500164	Abnormal blood carbon dioxide level	2	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy			108
HP:0002795	HP:0002878	Respiratory failure	2	TPM3 CL E G H	7170	12012	ORPHA:171433	Intermediate nemaline myopathy	HP:0040282 - Frequent		108
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	TPM3 CL E G H	7170	12012	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.		108
HP:0002795	HP:0032341	Reduced forced vital capacity	2	TPM3 CL E G H	7170	12012	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.		108
HP:0002795	HP:0004887	Respiratory failure requiring assisted ventilation	2	TRAF3 CL E G H	7187	12033	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040282 - Frequent		2
HP:0002795	HP:0002643	Neonatal respiratory distress	2	TRAF7 CL E G H	84231	20456	OMIM:618164	Cardiac, facial, and digital anomalies with developmental delay	.
HP:0002795	HP:0002094	Dyspnea	2	TRAK1 CL E G H	22906	29947	OMIM:618201	Epileptic encephalopathy, early infantile, 68
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	TRAPPC11 CL E G H	60684	25751	ORPHA:369847	Intellectual disability-hyperkinetic movement-truncal ataxia syndrome	HP:0040283 - Occasional		27
HP:0002795	HP:0002094	Dyspnea	2	TREM2 CL E G H	54209	17761	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		31
HP:0002795	HP:0002878	Respiratory failure	2	TREM2 CL E G H	54209	17761	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		31
HP:0002795	HP:0002094	Dyspnea	2	TRIP11 CL E G H	9321	12305	ORPHA:166272	Odontochondrodysplasia			133
HP:0002795	HP:0002094	Dyspnea	2	TRIP11 CL E G H	9321	12305	OMIM:184260	Osteochondrodysplasia			133
HP:0002795	HP:0002104	Apnea	2	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional		2
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	TRIP4 CL E G H	9325	12310	ORPHA:486815	Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome	HP:0040281 - Very frequent		4
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	TRIP4 CL E G H	9325	12310	OMIM:617066	Muscular dystrophy, congenital, Davignon-Chauveau type	.		4
HP:0002795	HP:0002643	Neonatal respiratory distress	2	TRIP4 CL E G H	9325	12310	OMIM:616866	Spinal muscular atrophy with congenital bone fractures 1			4
HP:0002795	HP:0002094	Dyspnea	2	TRMT5 CL E G H	57570	23141	OMIM:616539	Combined oxidative phosphorylation deficiency 26			4
HP:0002795	HP:0002094	Dyspnea	2	TRMU CL E G H	55687	25481	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency			101
HP:0002795	HP:0004887	Respiratory failure requiring assisted ventilation	2	TRMU CL E G H	55687	25481	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency	HP:0040283 - Occasional		101
HP:0002795	HP:0002094	Dyspnea	2	TRNE CL E G H	4556	7479	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
HP:0002795	HP:0004887	Respiratory failure requiring assisted ventilation	2	TRNE CL E G H	4556	7479	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency	HP:0040283 - Occasional
HP:0002795	HP:0002094	Dyspnea	2	TRNE CL E G H	4556	7479	ORPHA:2596	Myopathy and diabetes mellitus
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	TRNF CL E G H	4558	7481	ORPHA:550	MELAS
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	TRNH CL E G H	4564	7487	ORPHA:550	MELAS
HP:0002795	HP:0002094	Dyspnea	2	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0002795	HP:0002104	Apnea	2	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0002795	HP:0002883	Hyperventilation	2	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0002795	HP:0002094	Dyspnea	2	TRNK CL E G H	4566	7489	ORPHA:1349	Mitochondrial DNA-related cardiomyopathy and hearing loss	HP:0040282 - Frequent
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS
HP:0002795	HP:0002094	Dyspnea	2	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0002795	HP:0002104	Apnea	2	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0002795	HP:0002883	Hyperventilation	2	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	TRNL1 CL E G H	4567	7490	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia	HP:0040282 - Frequent
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	TRNL1 CL E G H	4567	7490	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia	HP:0040282 - Frequent
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	TRNL2 CL E G H	4568	7491	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia	HP:0040282 - Frequent
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	TRNL2 CL E G H	4568	7491	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia	HP:0040282 - Frequent
HP:0002795	HP:0002094	Dyspnea	2	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency	.
HP:0002795	HP:0002878	Respiratory failure	2	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	TRNN CL E G H	4570	7493	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia	HP:0040282 - Frequent
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	TRNN CL E G H	4570	7493	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia	HP:0040282 - Frequent
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS
HP:0002795	HP:0002094	Dyspnea	2	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency	.
HP:0002795	HP:0002878	Respiratory failure	2	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	TRNS1 CL E G H	4574	7497	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia	HP:0040282 - Frequent
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	TRNS1 CL E G H	4574	7497	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia	HP:0040282 - Frequent
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS
HP:0002795	HP:0002643	Neonatal respiratory distress	2	TRNT CL E G H	4576	7499	ORPHA:254857	Lethal infantile mitochondrial myopathy	HP:0040283 - Occasional
HP:0002795	HP:0002094	Dyspnea	2	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0002795	HP:0002104	Apnea	2	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0002795	HP:0002883	Hyperventilation	2	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	TRNW CL E G H	4578	7501	ORPHA:550	MELAS
HP:0002795	HP:0002094	Dyspnea	2	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0002795	HP:0002104	Apnea	2	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0002795	HP:0002883	Hyperventilation	2	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0002795	HP:0002094	Dyspnea	2	TRPM4 CL E G H	54795	17993	ORPHA:871	Familial progressive cardiac conduction defect	HP:0040282 - Frequent		124
HP:0002795	HP:0002104	Apnea	2	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC			214
HP:0002795	HP:0002878	Respiratory failure	2	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC	.		214
HP:0002795	HP:0004878	Intercostal muscle weakness	2	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC	.		214
HP:0002795	HP:0010307	Stridor	2	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC	.		214
HP:0002795	HP:0002878	Respiratory failure	2	TRPV4 CL E G H	59341	18083	OMIM:156530	Metatropic dysplasia	.		214
HP:0002795	HP:0010307	Stridor	2	TRPV4 CL E G H	59341	18083	OMIM:181405	Scapuloperoneal spinal muscular atrophy	.		214
HP:0002795	HP:0002094	Dyspnea	2	TRPV6 CL E G H	55503	14006	OMIM:618188	Hyperparathyroidism, transient neonatal			4
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism			2
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis	HP:0040281 - Very frequent		1090
HP:0002795	HP:0002094	Dyspnea	2	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis	HP:0040281 - Very frequent		1090
HP:0002795	HP:0002094	Dyspnea	2	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex			1090
HP:0002795	HP:0002878	Respiratory failure	2	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex	HP:0040284 - Very rare		1090
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis	HP:0040281 - Very frequent		2738
HP:0002795	HP:0002094	Dyspnea	2	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis	HP:0040281 - Very frequent		2738
HP:0002795	HP:0002094	Dyspnea	2	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex			2738
HP:0002795	HP:0002878	Respiratory failure	2	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex	HP:0040284 - Very rare		2738
HP:0002795	HP:0002104	Apnea	2	TSEN15 CL E G H	116461	16791	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040282 - Frequent		3
HP:0002795	HP:0002104	Apnea	2	TSEN2 CL E G H	80746	28422	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040282 - Frequent		84
HP:0002795	HP:0002104	Apnea	2	TSEN34 CL E G H	79042	15506	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040282 - Frequent		57
HP:0002795	HP:0002104	Apnea	2	TSEN54 CL E G H	283989	27561	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040282 - Frequent		102
HP:0002795	HP:0002104	Apnea	2	TSEN54 CL E G H	283989	27561	ORPHA:166063	Pontocerebellar hypoplasia type 4			102
HP:0002795	HP:0004887	Respiratory failure requiring assisted ventilation	2	TSEN54 CL E G H	283989	27561	ORPHA:166063	Pontocerebellar hypoplasia type 4	HP:0040282 - Frequent		102
HP:0002795	HP:0002878	Respiratory failure	2	TSEN54 CL E G H	283989	27561	OMIM:225753	Pontocerebellar hypoplasia, type 4	.		102
HP:0002795	HP:0002878	Respiratory failure	2	TSFM CL E G H	10102	12367	OMIM:610505	Combined oxidative phosphorylation deficiency 3	.		43
HP:0002795	HP:0002104	Apnea	2	TSPYL1 CL E G H	7259	12382	OMIM:608800	Sudden infant death with dysgenesis of the testes syndrome	.		1
HP:0002795	HP:0005943	Respiratory arrest	2	TSPYL1 CL E G H	7259	12382	OMIM:608800	Sudden infant death with dysgenesis of the testes syndrome			1
HP:0002795	HP:0025428	Bronchospasm	2	TSPYL1 CL E G H	7259	12382	OMIM:608800	Sudden infant death with dysgenesis of the testes syndrome	.		1
HP:0002795	HP:0010307	Stridor	2	TSPYL1 CL E G H	7259	12382	OMIM:608800	Sudden infant death with dysgenesis of the testes syndrome	.		1
HP:0002795	HP:0002104	Apnea	2	TSPYL1 CL E G H	7259	12382	ORPHA:168593	Sudden infant death-dysgenesis of the testes syndrome			1
HP:0002795	HP:0012262	Abnormal ciliary motility	2	TTC12 CL E G H	54970	23700	OMIM:618801	CILIARY DYSKINESIA, PRIMARY, 45; CILD45
HP:0002795	HP:0002643	Neonatal respiratory distress	2	TTC12 CL E G H	54970	23700	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0002795	HP:0002878	Respiratory failure	2	TTC12 CL E G H	54970	23700	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0002795	HP:0030828	Wheezing	2	TTC12 CL E G H	54970	23700	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0002795	HP:0031245	Productive cough	2	TTC12 CL E G H	54970	23700	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	TTN CL E G H	7273	12403	ORPHA:324604	Classic multiminicore myopathy	HP:0040282 - Frequent		7128
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	TTN CL E G H	7273	12403	ORPHA:324604	Classic multiminicore myopathy			7128
HP:0002795	HP:0002791	Hypoventilation	2	TTN CL E G H	7273	12403	ORPHA:324604	Classic multiminicore myopathy			7128
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	TTN CL E G H	7273	12403	ORPHA:178464	Hereditary myopathy with early respiratory failure	HP:0040282 - Frequent		7128
HP:0002795	HP:0002094	Dyspnea	2	TTN CL E G H	7273	12403	ORPHA:178464	Hereditary myopathy with early respiratory failure	HP:0040282 - Frequent		7128
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	TTN CL E G H	7273	12403	ORPHA:178464	Hereditary myopathy with early respiratory failure	HP:0040282 - Frequent		7128
HP:0002795	HP:0002792	Reduced vital capacity	2	TTN CL E G H	7273	12403	ORPHA:178464	Hereditary myopathy with early respiratory failure	HP:0040282 - Frequent		7128
HP:0002795	HP:0002791	Hypoventilation	2	TTN CL E G H	7273	12403	OMIM:603689	Myopathy, myofibrillar, 9, with early respiratory failure			7128
HP:0002795	HP:0002792	Reduced vital capacity	2	TTN CL E G H	7273	12403	OMIM:603689	Myopathy, myofibrillar, 9, with early respiratory failure			7128
HP:0002795	HP:0002878	Respiratory failure	2	TTN CL E G H	7273	12403	OMIM:603689	Myopathy, myofibrillar, 9, with early respiratory failure	.		7128
HP:0002795	HP:0002094	Dyspnea	2	TUBB4A CL E G H	10382	20774	ORPHA:98805	Primary dystonia, DYT4 type			66
HP:0002795	HP:0002878	Respiratory failure	2	TUFM CL E G H	7284	12420	OMIM:610678	Combined oxidative phosphorylation deficiency 4	.		55
HP:0002795	HP:0002104	Apnea	2	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome			18
HP:0002795	HP:0002094	Dyspnea	2	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			113
HP:0002795	HP:0005943	Respiratory arrest	2	TXNDC15 CL E G H	79770	20652	OMIM:619879				2
HP:0002795	HP:0002094	Dyspnea	2	UBA1 CL E G H	7317	12469	ORPHA:1145	Infantile-onset X-linked spinal muscular atrophy			35
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	UBA1 CL E G H	7317	12469	OMIM:301830	Spinal muscular atrophy, X-linked 2	.		35
HP:0002795	HP:0002204	Pulmonary embolism	2	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type			7
HP:0002795	HP:0002643	Neonatal respiratory distress	2	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome			13
HP:0002795	HP:0002094	Dyspnea	2	UBE3B CL E G H	89910	13478	ORPHA:2707	Oculocerebrofacial syndrome, Kaufman type	HP:0040281 - Very frequent		13
HP:0002795	HP:0002878	Respiratory failure	2	UBE3B CL E G H	89910	13478	ORPHA:2707	Oculocerebrofacial syndrome, Kaufman type	HP:0040281 - Very frequent		13
HP:0002795	HP:0002094	Dyspnea	2	UBQLN2 CL E G H	29978	12509	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		20
HP:0002795	HP:0002878	Respiratory failure	2	UBQLN2 CL E G H	29978	12509	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		20
HP:0002795	HP:0006510	Chronic pulmonary obstruction	2	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0002795	HP:0002094	Dyspnea	2	UNC13A CL E G H	23025	23150	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		1
HP:0002795	HP:0002878	Respiratory failure	2	UNC13A CL E G H	23025	23150	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		1
HP:0002795	HP:0032341	Reduced forced vital capacity	2	UNC45B CL E G H	146862	14304	OMIM:619178	MYOFIBRILLAR MYOPATHY 11; MFM11			1
HP:0002795	HP:0002104	Apnea	2	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome			23
HP:0002795	HP:0004887	Respiratory failure requiring assisted ventilation	2	UNC93B1 CL E G H	81622	13481	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040282 - Frequent		5
HP:0002795	HP:0002789	Tachypnea	2	UQCRC2 CL E G H	7385	12586	OMIM:615160	Mitochondrial complex III deficiency, nuclear type 5			17
HP:0002795	HP:0002883	Hyperventilation	2	UQCRFS1 CL E G H	7386	12587	OMIM:618775	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10
HP:0002795	HP:0004887	Respiratory failure requiring assisted ventilation	2	USP18 CL E G H	11274	12616	OMIM:617397	Pseudo-Torch syndrome 2			2
HP:0002795	HP:0002104	Apnea	2	USP7 CL E G H	7874	12630	ORPHA:500055	16p13.2 microdeletion syndrome			2
HP:0002795	HP:0002104	Apnea	2	USP7 CL E G H	7874	12630	OMIM:616863	Chromosome 16p13.2 deletion syndrome			2
HP:0002795	HP:0002094	Dyspnea	2	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted			27
HP:0002795	HP:0002094	Dyspnea	2	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability			27
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome			6
HP:0002795	HP:0002094	Dyspnea	2	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0002795	HP:0002104	Apnea	2	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0002795	HP:0005943	Respiratory arrest	2	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		2
HP:0002795	HP:0010307	Stridor	2	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		2
HP:0002795	HP:0002094	Dyspnea	2	VAPB CL E G H	9217	12649	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		116
HP:0002795	HP:0002878	Respiratory failure	2	VAPB CL E G H	9217	12649	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		116
HP:0002795	HP:0002094	Dyspnea	2	VCL CL E G H	7414	12665	OMIM:613255	Cardiomyopathy, familial hypertrophic, 15	.		248
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	VCL CL E G H	7414	12665	OMIM:613255	Cardiomyopathy, familial hypertrophic, 15			248
HP:0002795	HP:0002792	Reduced vital capacity	2	VCP CL E G H	7415	12666	ORPHA:329478	Adult-onset distal myopathy due to VCP mutation	HP:0040284 - Very rare		63
HP:0002795	HP:0002094	Dyspnea	2	VCP CL E G H	7415	12666	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		63
HP:0002795	HP:0002878	Respiratory failure	2	VCP CL E G H	7415	12666	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		63
HP:0002795	HP:0002878	Respiratory failure	2	VCP CL E G H	7415	12666	OMIM:613954	Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia			63
HP:0002795	HP:0002094	Dyspnea	2	VCP CL E G H	7415	12666	ORPHA:435387	Autosomal dominant Charcot-Marie-Tooth disease type 2Y	HP:0040283 - Occasional		63
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	VHL CL E G H	7428	12687	OMIM:263400	Erythrocytosis, familial, 2			490
HP:0002795	HP:0002094	Dyspnea	2	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders			1
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders			1
HP:0002795	HP:0010307	Stridor	2	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders	HP:0040283 - Occasional		1
HP:0002795	HP:0002094	Dyspnea	2	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome			1
HP:0002795	HP:0002104	Apnea	2	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0002795	HP:0002878	Respiratory failure	2	VRK1 CL E G H	7443	12718	ORPHA:2254	Pontocerebellar hypoplasia type 1			32
HP:0002795	HP:0010307	Stridor	2	VRK1 CL E G H	7443	12718	ORPHA:2254	Pontocerebellar hypoplasia type 1			32
HP:0002795	HP:0004878	Intercostal muscle weakness	2	VRK1 CL E G H	7443	12718	OMIM:607596	Pontocerebellar hypoplasia type 1A			32
HP:0002795	HP:0002094	Dyspnea	2	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040282 - Frequent		65
HP:0002795	HP:0006510	Chronic pulmonary obstruction	2	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040281 - Very frequent		65
HP:0002795	HP:0002091	Restrictive ventilatory defect	2	WDR19 CL E G H	57728	18340	OMIM:614376	Short-Rib thoracic dysplasia 5 with or without polydactyly			95
HP:0002795	HP:0002094	Dyspnea	2	WDR45B CL E G H	56270	25072	OMIM:617977	Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures			1
HP:0002795	HP:0002104	Apnea	2	WFS1 CL E G H	7466	12762	ORPHA:3463	Wolfram syndrome			389
HP:0002795	HP:0002094	Dyspnea	2	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040282 - Frequent		6
HP:0002795	HP:0006510	Chronic pulmonary obstruction	2	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040281 - Very frequent		6
HP:0002795	HP:0002094	Dyspnea	2	XPNPEP2 CL E G H	7512	12823	ORPHA:100057	Renin-angiotensin-aldosterone system-blocker-induced angioedema			4
HP:0002795	HP:0002781	Upper airway obstruction	2	XPNPEP2 CL E G H	7512	12823	ORPHA:100057	Renin-angiotensin-aldosterone system-blocker-induced angioedema			4
HP:0002795	HP:0002643	Neonatal respiratory distress	2	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2			14
HP:0002795	HP:0045049	Abnormal DLCO	2	XYLT1 CL E G H	64131	15516	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE			14
HP:0002795	HP:0045049	Abnormal DLCO	2	XYLT2 CL E G H	64132	15517	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE			5
HP:0002795	HP:0002747	Respiratory insufficiency due to muscle weakness	2	YARS2 CL E G H	51067	24249	OMIM:613561	Myopathy, lactic acidosis, and sideroblastic anemia 2	.		45
HP:0002795	HP:0002094	Dyspnea	2	ZBTB16 CL E G H	7704	12930	ORPHA:520	Acute promyelocytic leukemia			1
HP:0002795	HP:0031245	Productive cough	2	ZBTB16 CL E G H	7704	12930	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional		1
HP:0002795	HP:0002104	Apnea	2	ZBTB7A CL E G H	51341	18078	OMIM:619769	MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH
HP:0002795	HP:0002104	Apnea	2	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome	.		19
HP:0002795	HP:0002643	Neonatal respiratory distress	2	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome	.		19
HP:0002795	HP:0002094	Dyspnea	2	ZFPM2 CL E G H	23414	16700	ORPHA:2140	Congenital diaphragmatic hernia			31
HP:0002795	HP:0500165	Abnormal blood oxygen level	2	ZFPM2 CL E G H	23414	16700	ORPHA:2140	Congenital diaphragmatic hernia			31
HP:0002795	HP:0002104	Apnea	2	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly			34
HP:0002795	HP:0002104	Apnea	2	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly			34
HP:0002795	HP:0002104	Apnea	2	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			34
HP:0002795	HP:0002104	Apnea	2	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly			34
HP:0002795	HP:0002094	Dyspnea	2	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked			39
HP:0002795	HP:0002094	Dyspnea	2	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome			83
HP:0002795	HP:0002781	Upper airway obstruction	2	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional		83
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome			83
HP:0002795	HP:0002104	Apnea	2	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0002795	HP:0002643	Neonatal respiratory distress	2	ZMYND10 CL E G H	51364	19412	OMIM:615444	Ciliary dyskinesia, primary, 22			20
HP:0002795	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	2	ZMYND10 CL E G H	51364	19412	OMIM:615444	Ciliary dyskinesia, primary, 22	.		20
HP:0002795	HP:0012262	Abnormal ciliary motility	2	ZMYND10 CL E G H	51364	19412	OMIM:615444	Ciliary dyskinesia, primary, 22			20
HP:0002795	HP:0002643	Neonatal respiratory distress	2	ZMYND10 CL E G H	51364	19412	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		20
HP:0002795	HP:0002878	Respiratory failure	2	ZMYND10 CL E G H	51364	19412	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		20
HP:0002795	HP:0030828	Wheezing	2	ZMYND10 CL E G H	51364	19412	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		20
HP:0002795	HP:0031245	Productive cough	2	ZMYND10 CL E G H	51364	19412	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		20
HP:0002795	HP:0002104	Apnea	2	ZNF423 CL E G H	23090	16762	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040281 - Very frequent		49
HP:0002795	HP:0002789	Tachypnea	2	ZNF423 CL E G H	23090	16762	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040281 - Very frequent		49
HP:0002795	HP:0004890	Elevated pulmonary artery pressure	2	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0002795	HP:0002781	Upper airway obstruction	2	ZSWIM6 CL E G H	57688	29316	OMIM:603671	Acromelic frontonasal dysostosis	HP:0040283 - Occasional		5
HP:0002795	HP:0002781	Upper airway obstruction	2	ZSWIM6 CL E G H	57688	29316	ORPHA:1827	Acromelic frontonasal dysplasia	HP:0040283 - Occasional		5
HP:0002795	HP:0004881	Episodic hypoventilation	3	CL E G H
HP:0002795	HP:0012419	Hyperoxemia	3	CL E G H
HP:0002795	HP:0030894	Insufficient response to short acting pulmonary vasodilator	3	CL E G H
HP:0002795	HP:0031995	Squawks	3	CL E G H
HP:0002795	HP:0031996	Inspiratory crackles	3	CL E G H
HP:0002795	HP:0031999	Expiratory crackles	3	CL E G H
HP:0002795	HP:0032008	Pulmonary fat embolism	3	CL E G H
HP:0002795	HP:0032356	Decreased pre-bronchodilator forced vital capacity	3	CL E G H
HP:0002795	HP:0032357	Decreased post-bronchodilator forced vital capacity	3	CL E G H
HP:0002795	HP:0032358	Decreased post-bronchodilator forced expiratory volume in one second	3	CL E G H
HP:0002795	HP:0032360	Decreased pre-bronchodilator forced expiratory flow 25-75%	3	CL E G H
HP:0002795	HP:0032361	Decreased post-bronchodilator forced expiratory flow 25-75%	3	CL E G H
HP:0002795	HP:0033240	Elevated RV/TLC ratio	3	CL E G H
HP:0002795	HP:0033251	Elevated residual volume	3	CL E G H
HP:0002795	HP:0033352	Pulmonary hypertensive crisis	3	CL E G H
HP:0002795	HP:0033368	Platypnea	3	CL E G H
HP:0002795	HP:0033373	Increased KCO	3	CL E G H
HP:0002795	HP:0033374	Decreased KCO	3	CL E G H
HP:0002795	HP:0033426	Pulmonary air embolism	3	CL E G H
HP:0002795	HP:0033633	Decreased alveolar volume	3	CL E G H
HP:0002795	HP:0033634	Increased alveolar volume	3	CL E G H
HP:0002795	HP:0033635	Post-capillary pulmonary hypertension	3	CL E G H
HP:0002795	HP:0033636	Combined pre- and post-capillary pulmonary hypertension	3	CL E G H
HP:0002795	HP:0033710	Rest dyspnea	3	CL E G H
HP:0002795	HP:0033750	Reduced functional residual capacity	3	CL E G H
HP:0002795	HP:0033751	Elevated functional residual capacity	3	CL E G H
HP:0002795	HP:0033753	Reduced residual volume	3	CL E G H
HP:0002795	HP:0033773	Decreased RV/TLC ratio	3	CL E G H
HP:0002795	HP:0034236	Apnea of prematurity	3	CL E G H
HP:0002795	HP:0045050	Increased DLCO	3	CL E G H
HP:0002795	HP:0002875	Exertional dyspnea	3	ABCA3 CL E G H	21	33	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent		147
HP:0002795	HP:0002098	Respiratory distress	3	ABCA3 CL E G H	21	33	ORPHA:70587	Infant acute respiratory distress syndrome			147
HP:0002795	HP:0012418	Hypoxemia	3	ABCA3 CL E G H	21	33	ORPHA:70587	Infant acute respiratory distress syndrome	HP:0040281 - Very frequent		147
HP:0002795	HP:0002098	Respiratory distress	3	ABCA3 CL E G H	21	33	OMIM:610921	Surfactant metabolism dysfunction, pulmonary, 3			147
HP:0002795	HP:0002875	Exertional dyspnea	3	ABCA3 CL E G H	21	33	OMIM:610921	Surfactant metabolism dysfunction, pulmonary, 3			147
HP:0002795	HP:0012418	Hypoxemia	3	ABCA3 CL E G H	21	33	OMIM:610921	Surfactant metabolism dysfunction, pulmonary, 3			147
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy			415
HP:0002795	HP:0002098	Respiratory distress	3	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040282 - Frequent		415
HP:0002795	HP:0045051	Decreased DLCO	3	ABCC6 CL E G H	368	57	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE			415
HP:0002795	HP:0010535	Sleep apnea	3	ABCC9 CL E G H	10060	60	OMIM:619719	INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS			254
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type			53
HP:0002795	HP:0002875	Exertional dyspnea	3	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency	HP:0040283 - Occasional		197
HP:0002795	HP:0002098	Respiratory distress	3	ACADS CL E G H	35	90	ORPHA:26792	Short chain acyl-CoA dehydrogenase deficiency	HP:0040283 - Occasional		90
HP:0002795	HP:0005949	Apneic episodes in infancy	3	ACADSB CL E G H	36	91	OMIM:610006	2-Methylbutyryl-Coa dehydrogenase deficiency	.		111
HP:0002795	HP:0002098	Respiratory distress	3	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency	HP:0040283 - Occasional		200
HP:0002795	HP:0002876	Episodic tachypnea	3	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency	HP:0040283 - Occasional		200
HP:0002795	HP:0012416	Hypercapnia	3	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		96
HP:0002795	HP:0012418	Hypoxemia	3	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		96
HP:0002795	HP:0002877	Nocturnal hypoventilation	3	ACTA1 CL E G H	58	129	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		96
HP:0002795	HP:0002875	Exertional dyspnea	3	ACTA2 CL E G H	59	130	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent		94
HP:0002795	HP:0012763	Paroxysmal dyspnea	3	ACTA2 CL E G H	59	130	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent		94
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	ACTA2 CL E G H	59	130	OMIM:613834	Multisystemic smooth muscle dysfunction syndrome			94
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	ACTC1 CL E G H	70	143	ORPHA:99103	Atrial septal defect, ostium secundum type			208
HP:0002795	HP:0002875	Exertional dyspnea	3	ACTC1 CL E G H	70	143	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040282 - Frequent		208
HP:0002795	HP:0012764	Orthopnea	3	ACTC1 CL E G H	70	143	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional		208
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	ACVRL1 CL E G H	94	175	ORPHA:774	Hereditary hemorrhagic telangiectasia			178
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2			178
HP:0002795	HP:0002098	Respiratory distress	3	ADAMTS13 CL E G H	11093	1366	OMIM:274150	Thrombotic thrombocytopenic purpura, hereditary	HP:0040283 - Occasional		129
HP:0002795	HP:0002098	Respiratory distress	3	ADCY6 CL E G H	112	237	ORPHA:2680	Hypomyelination neuropathy-arthrogryposis syndrome	HP:0040281 - Very frequent		2
HP:0002795	HP:0002098	Respiratory distress	3	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome	HP:0040284 - Very rare		47
HP:0002795	HP:0010535	Sleep apnea	3	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome			6
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome			6
HP:0002795	HP:0010535	Sleep apnea	3	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome	HP:0040283 - Occasional		6
HP:0002795	HP:0002875	Exertional dyspnea	3	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		127
HP:0002795	HP:0012764	Orthopnea	3	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		127
HP:0002795	HP:0002098	Respiratory distress	3	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes			127
HP:0002795	HP:0002872	Apneic episodes precipitated by illness, fatigue, stress	3	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		127
HP:0002795	HP:0002882	Sudden episodic apnea	3	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent		127
HP:0002795	HP:0004889	Intermittent episodes of respiratory insufficiency due to muscle weakness	3	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent		127
HP:0002795	HP:0010535	Sleep apnea	3	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes			127
HP:0002795	HP:0005348	Inspiratory stridor	3	AGTPBP1 CL E G H	23287	17258	ORPHA:2254	Pontocerebellar hypoplasia type 1			1
HP:0002795	HP:0010535	Sleep apnea	3	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome			36
HP:0002795	HP:0010535	Sleep apnea	3	AHDC1 CL E G H	27245	25230	OMIM:615829	Xia-Gibbs syndrome			36
HP:0002795	HP:0002876	Episodic tachypnea	3	AHI1 CL E G H	54806	21575	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		175
HP:0002795	HP:0002871	Central apnea	3	AHI1 CL E G H	54806	21575	OMIM:608629	Joubert syndrome 3	.		175
HP:0002795	HP:0002876	Episodic tachypnea	3	AHI1 CL E G H	54806	21575	OMIM:608629	Joubert syndrome 3	.		175
HP:0002795	HP:0002098	Respiratory distress	3	AIFM1 CL E G H	9131	8768	ORPHA:238329	Severe X-linked mitochondrial encephalomyopathy	HP:0040282 - Frequent		60
HP:0002795	HP:0010535	Sleep apnea	3	AIP CL E G H	9049	358	ORPHA:963	Acromegaly	HP:0040282 - Frequent		95
HP:0002795	HP:0002875	Exertional dyspnea	3	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		1
HP:0002795	HP:0012764	Orthopnea	3	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		1
HP:0002795	HP:0005946	Ventilator dependence with inability to wean	3	ALAD CL E G H	210	395	ORPHA:100924	Porphyria due to ALA dehydratase deficiency	HP:0040283 - Occasional		62
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	ALDH1A2 CL E G H	8854	15472	OMIM:620025
HP:0002795	HP:0012768	Neonatal asphyxia	3	ALDH7A1 CL E G H	501	877	ORPHA:3006	Pyridoxine-dependent epilepsy	HP:0040283 - Occasional		227
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome			404
HP:0002795	HP:0002098	Respiratory distress	3	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040283 - Occasional		404
HP:0002795	HP:0010535	Sleep apnea	3	ARCN1 CL E G H	372	649	OMIM:617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay			3
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome			147
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1			147
HP:0002795	HP:0002876	Episodic tachypnea	3	ARL13B CL E G H	200894	25419	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		62
HP:0002795	HP:0002876	Episodic tachypnea	3	ARL3 CL E G H	403	694	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		1
HP:0002795	HP:0010535	Sleep apnea	3	ARL3 CL E G H	403	694	OMIM:618161	JOUBERT SYNDROME 35; JBTS35			1
HP:0002795	HP:0002876	Episodic tachypnea	3	ARMC9 CL E G H	80210	20730	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI			120
HP:0002795	HP:0010535	Sleep apnea	3	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI			120
HP:0002795	HP:0002871	Central apnea	3	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata	HP:0040283 - Occasional
HP:0002795	HP:0002098	Respiratory distress	3	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease	HP:0040283 - Occasional		78
HP:0002795	HP:0007110	Central hypoventilation	3	ASCL1 CL E G H	429	738	ORPHA:99803	Haddad syndrome	HP:0040281 - Very frequent		15
HP:0002795	HP:0010535	Sleep apnea	3	ASCL1 CL E G H	429	738	ORPHA:99803	Haddad syndrome			15
HP:0002795	HP:0010535	Sleep apnea	3	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome			145
HP:0002795	HP:0010535	Sleep apnea	3	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies			16
HP:0002795	HP:0002875	Exertional dyspnea	3	ATP11A CL E G H	23250	13552	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	ATP13A3 CL E G H	79572	24113	OMIM:265400	Pulmonary hypertension, primary, autosomal recessive
HP:0002795	HP:0002875	Exertional dyspnea	3	ATP13A3 CL E G H	79572	24113	OMIM:265400	Pulmonary hypertension, primary, autosomal recessive	.
HP:0002795	HP:0002098	Respiratory distress	3	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional		239
HP:0002795	HP:0010535	Sleep apnea	3	ATP1A2 CL E G H	477	800	OMIM:619605	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98; DEE98			239
HP:0002795	HP:0002098	Respiratory distress	3	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional		150
HP:0002795	HP:0002871	Central apnea	3	ATP1A3 CL E G H	478	801	OMIM:619606	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99			150
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	ATP5F1A CL E G H	498	823	OMIM:616045	Combined oxidative phosphorylation deficiency 22
HP:0002795	HP:0002098	Respiratory distress	3	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002795	HP:0002098	Respiratory distress	3	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040283 - Occasional		5
HP:0002795	HP:0002098	Respiratory distress	3	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040283 - Occasional		38
HP:0002795	HP:0006543	Cardiorespiratory arrest	3	B3GALT6 CL E G H	126792	17978	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity	HP:0040283 - Occasional		38
HP:0002795	HP:0002876	Episodic tachypnea	3	B9D1 CL E G H	27077	24123	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		28
HP:0002795	HP:0002876	Episodic tachypnea	3	B9D2 CL E G H	80776	28636	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		34
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome			22
HP:0002795	HP:0002098	Respiratory distress	3	BAP1 CL E G H	8314	950	ORPHA:50251	Pleural mesothelioma	HP:0040282 - Frequent		184
HP:0002795	HP:0002875	Exertional dyspnea	3	BCOR CL E G H	54880	20893	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent		101
HP:0002795	HP:0010535	Sleep apnea	3	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant			46
HP:0002795	HP:0012768	Neonatal asphyxia	3	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040283 - Occasional		99
HP:0002795	HP:0010535	Sleep apnea	3	BMP2 CL E G H	650	1069	OMIM:617877	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies			13
HP:0002795	HP:0002098	Respiratory distress	3	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS	.		78
HP:0002795	HP:0002098	Respiratory distress	3	BMPER CL E G H	168667	24154	ORPHA:66637	Diaphanospondylodysostosis	HP:0040281 - Very frequent		78
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	BMPR2 CL E G H	659	1078	OMIM:178600	Pulmonary hypertension, primary, 1			525
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	BMPR2 CL E G H	659	1078	OMIM:265450	PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT; PVOD1			525
HP:0002795	HP:0002098	Respiratory distress	3	BOLA3 CL E G H	388962	24415	OMIM:614299	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia			14
HP:0002795	HP:0010535	Sleep apnea	3	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma	HP:0040283 - Occasional		276
HP:0002795	HP:0002098	Respiratory distress	3	BTD CL E G H	686	1122	ORPHA:79241	Biotinidase deficiency	HP:0040283 - Occasional		223
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	BTNL2 CL E G H	56244	1142	OMIM:612387	Sarcoidosis, susceptibility to, 2			1
HP:0002795	HP:0012418	Hypoxemia	3	BTNL2 CL E G H	56244	1142	OMIM:612387	Sarcoidosis, susceptibility to, 2			1
HP:0002795	HP:0010535	Sleep apnea	3	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14	HP:0040282 - Frequent		27
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis			29
HP:0002795	HP:0010535	Sleep apnea	3	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis			29
HP:0002795	HP:0002098	Respiratory distress	3	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional		449
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	CACNA1C CL E G H	775	1390	OMIM:620029				572
HP:0002795	HP:0010535	Sleep apnea	3	CACNA1C CL E G H	775	1390	OMIM:620029				572
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	CACNA1D CL E G H	776	1391	OMIM:615474	Primary aldosteronism, seizures, and neurologic abnormalities			51
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	CACNA1D CL E G H	776	1391	ORPHA:369929	Primary hyperaldosteronism-seizures-neurological abnormalities syndrome			51
HP:0002795	HP:0012416	Hypercapnia	3	CACNA1S CL E G H	779	1397	ORPHA:423	Malignant hyperthermia of anesthesia	HP:0040282 - Frequent		247
HP:0002795	HP:0012416	Hypercapnia	3	CACNA1S CL E G H	779	1397	OMIM:601887	Malignant hyperthermia, susceptibility to, 5	.		247
HP:0002795	HP:0004879	Intermittent hyperventilation	3	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia			118
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	CAV1 CL E G H	857	1527	ORPHA:220393	Diffuse cutaneous systemic sclerosis			11
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	CAV1 CL E G H	857	1527	ORPHA:220402	Limited cutaneous systemic sclerosis			11
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7			11
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	CAV1 CL E G H	857	1527	OMIM:615343	Pulmonary hypertension, primary, 3			11
HP:0002795	HP:0002876	Episodic tachypnea	3	CBY1 CL E G H	25776	1307	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		1
HP:0002795	HP:0005949	Apneic episodes in infancy	3	CC2D2A CL E G H	57545	29253	OMIM:619111	COACH SYNDROME 2; COACH2			247
HP:0002795	HP:0002876	Episodic tachypnea	3	CC2D2A CL E G H	57545	29253	OMIM:612285	Joubert syndrome 9			247
HP:0002795	HP:0012265	Ciliary dyskinesia	3	CCDC103 CL E G H	388389	32700	OMIM:614679	Ciliary dyskinesia, primary, 17	.		36
HP:0002795	HP:0012265	Ciliary dyskinesia	3	CCDC39 CL E G H	339829	25244	OMIM:613807	Ciliary dyskinesia, primary, 14			126
HP:0002795	HP:0012265	Ciliary dyskinesia	3	CCDC40 CL E G H	55036	26090	OMIM:613808	CILIARY DYSKINESIA, PRIMARY, 15; CILD15			182
HP:0002795	HP:0010535	Sleep apnea	3	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome
HP:0002795	HP:0012265	Ciliary dyskinesia	3	CCDC65 CL E G H	85478	29937	OMIM:615504	Ciliary dyskinesia, primary, 27	.		23
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	CCN2 CL E G H	1490	2500	ORPHA:220393	Diffuse cutaneous systemic sclerosis
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	CCN2 CL E G H	1490	2500	ORPHA:220402	Limited cutaneous systemic sclerosis
HP:0002795	HP:0012265	Ciliary dyskinesia	3	CCNO CL E G H	10309	18576	OMIM:615872	Ciliary dyskinesia, primary, 29			23
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	CCR6 CL E G H	1235	1607	ORPHA:220393	Diffuse cutaneous systemic sclerosis
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	CCR6 CL E G H	1235	1607	ORPHA:220402	Limited cutaneous systemic sclerosis
HP:0002795	HP:0012418	Hypoxemia	3	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM			33
HP:0002795	HP:0010535	Sleep apnea	3	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0002795	HP:0002098	Respiratory distress	3	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent		9
HP:0002795	HP:0002098	Respiratory distress	3	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent		31
HP:0002795	HP:0010535	Sleep apnea	3	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder			8
HP:0002795	HP:0002876	Episodic tachypnea	3	CDKL5 CL E G H	6792	11411	ORPHA:3095	Atypical Rett syndrome	HP:0040282 - Frequent		405
HP:0002795	HP:0002882	Sudden episodic apnea	3	CDKL5 CL E G H	6792	11411	ORPHA:3095	Atypical Rett syndrome	HP:0040282 - Frequent		405
HP:0002795	HP:0002871	Central apnea	3	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		200
HP:0002795	HP:0002871	Central apnea	3	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		200
HP:0002795	HP:0002871	Central apnea	3	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		200
HP:0002795	HP:0002871	Central apnea	3	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		200
HP:0002795	HP:0002098	Respiratory distress	3	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent		50
HP:0002795	HP:0002876	Episodic tachypnea	3	CEP104 CL E G H	9731	24866	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		5
HP:0002795	HP:0002876	Episodic tachypnea	3	CEP120 CL E G H	153241	26690	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		7
HP:0002795	HP:0002871	Central apnea	3	CEP290 CL E G H	80184	29021	OMIM:610188	Joubert syndrome 5	.		342
HP:0002795	HP:0002876	Episodic tachypnea	3	CEP290 CL E G H	80184	29021	OMIM:610188	Joubert syndrome 5	.		342
HP:0002795	HP:0002876	Episodic tachypnea	3	CEP41 CL E G H	95681	12370	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		90
HP:0002795	HP:0010535	Sleep apnea	3	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2			17
HP:0002795	HP:0012263	Immotile cilia	3	CFAP298 CL E G H	56683	1301	OMIM:615500	Ciliary dyskinesia, primary, 26
HP:0002795	HP:0012265	Ciliary dyskinesia	3	CFAP298 CL E G H	56683	1301	OMIM:615500	Ciliary dyskinesia, primary, 26
HP:0002795	HP:0002877	Nocturnal hypoventilation	3	CFL2 CL E G H	1073	1875	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		35
HP:0002795	HP:0010535	Sleep apnea	3	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40			16
HP:0002795	HP:0002098	Respiratory distress	3	CHAT CL E G H	1103	1912	OMIM:254210	Myasthenic syndrome, congenital, 6, presynaptic	.		65
HP:0002795	HP:0002872	Apneic episodes precipitated by illness, fatigue, stress	3	CHAT CL E G H	1103	1912	OMIM:254210	Myasthenic syndrome, congenital, 6, presynaptic	.		65
HP:0002795	HP:0002882	Sudden episodic apnea	3	CHAT CL E G H	1103	1912	OMIM:254210	Myasthenic syndrome, congenital, 6, presynaptic	.		65
HP:0002795	HP:0002098	Respiratory distress	3	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes			65
HP:0002795	HP:0002872	Apneic episodes precipitated by illness, fatigue, stress	3	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		65
HP:0002795	HP:0002882	Sudden episodic apnea	3	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent		65
HP:0002795	HP:0004889	Intermittent episodes of respiratory insufficiency due to muscle weakness	3	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent		65
HP:0002795	HP:0010535	Sleep apnea	3	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes			65
HP:0002795	HP:0004889	Intermittent episodes of respiratory insufficiency due to muscle weakness	3	CHRNA1 CL E G H	1134	1955	OMIM:601462	Myasthenic syndrome, congenital, 1A, slow-channel	.		74
HP:0002795	HP:0002875	Exertional dyspnea	3	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		74
HP:0002795	HP:0012764	Orthopnea	3	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		74
HP:0002795	HP:0002875	Exertional dyspnea	3	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		53
HP:0002795	HP:0012764	Orthopnea	3	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		53
HP:0002795	HP:0002875	Exertional dyspnea	3	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		88
HP:0002795	HP:0012764	Orthopnea	3	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		88
HP:0002795	HP:0002098	Respiratory distress	3	CHRNE CL E G H	1145	1966	OMIM:605809	Myasthenic syndrome, congenital, 4A, slow-channel	.		139
HP:0002795	HP:0002872	Apneic episodes precipitated by illness, fatigue, stress	3	CHRNE CL E G H	1145	1966	OMIM:605809	Myasthenic syndrome, congenital, 4A, slow-channel	.		139
HP:0002795	HP:0002882	Sudden episodic apnea	3	CHRNE CL E G H	1145	1966	OMIM:605809	Myasthenic syndrome, congenital, 4A, slow-channel	.		139
HP:0002795	HP:0002875	Exertional dyspnea	3	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		139
HP:0002795	HP:0012764	Orthopnea	3	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		139
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations			165
HP:0002795	HP:0002871	Central apnea	3	CISD2 CL E G H	493856	24212	ORPHA:3463	Wolfram syndrome	HP:0040283 - Occasional		3
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	CITED2 CL E G H	10370	1987	ORPHA:99103	Atrial septal defect, ostium secundum type			5
HP:0002795	HP:0002875	Exertional dyspnea	3	CITED2 CL E G H	10370	1987	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040282 - Frequent		5
HP:0002795	HP:0012764	Orthopnea	3	CITED2 CL E G H	10370	1987	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional		5
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	CITED2 CL E G H	10370	1987	ORPHA:99105	Atrial septal defect, sinus venosus type			5
HP:0002795	HP:0002875	Exertional dyspnea	3	CITED2 CL E G H	10370	1987	ORPHA:99105	Atrial septal defect, sinus venosus type	HP:0040282 - Frequent		5
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis			102
HP:0002795	HP:0002098	Respiratory distress	3	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare		27
HP:0002795	HP:0002098	Respiratory distress	3	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia			38
HP:0002795	HP:0012418	Hypoxemia	3	CNOT1 CL E G H	23019	7877	ORPHA:556955	Pancreatic agenesis-holoprosencephaly syndrome	HP:0040283 - Occasional		2
HP:0002795	HP:0002098	Respiratory distress	3	CNTNAP1 CL E G H	8506	8011	ORPHA:2680	Hypomyelination neuropathy-arthrogryposis syndrome	HP:0040281 - Very frequent		9
HP:0002795	HP:0004879	Intermittent hyperventilation	3	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy			518
HP:0002795	HP:0002875	Exertional dyspnea	3	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy	HP:0040282 - Frequent
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG			52
HP:0002795	HP:0002877	Nocturnal hypoventilation	3	COL12A1 CL E G H	1303	2188	OMIM:616470	ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2; UCMD2			65
HP:0002795	HP:0002875	Exertional dyspnea	3	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		6
HP:0002795	HP:0012764	Orthopnea	3	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		6
HP:0002795	HP:0002098	Respiratory distress	3	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes			6
HP:0002795	HP:0002872	Apneic episodes precipitated by illness, fatigue, stress	3	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		6
HP:0002795	HP:0002882	Sudden episodic apnea	3	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent		6
HP:0002795	HP:0004889	Intermittent episodes of respiratory insufficiency due to muscle weakness	3	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent		6
HP:0002795	HP:0010535	Sleep apnea	3	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes			6
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	COL1A1 CL E G H	1277	2197	OMIM:259420	Osteogenesis imperfecta, type III			373
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	COL1A2 CL E G H	1278	2198	OMIM:259420	Osteogenesis imperfecta, type III			243
HP:0002795	HP:0002098	Respiratory distress	3	COL25A1 CL E G H	84570	18603	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040283 - Occasional		3
HP:0002795	HP:0006543	Cardiorespiratory arrest	3	COL2A1 CL E G H	1280	2200	ORPHA:93296	Achondrogenesis type 2	HP:0040283 - Occasional		284
HP:0002795	HP:0002098	Respiratory distress	3	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia	.		284
HP:0002795	HP:0002098	Respiratory distress	3	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type			284
HP:0002795	HP:0002098	Respiratory distress	3	COL2A1 CL E G H	1280	2200	OMIM:183900	Spondyloepiphyseal dysplasia congenita	.		284
HP:0002795	HP:0010535	Sleep apnea	3	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040283 - Occasional		749
HP:0002795	HP:0002877	Nocturnal hypoventilation	3	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1	.		442
HP:0002795	HP:0002877	Nocturnal hypoventilation	3	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1	.		478
HP:0002795	HP:0002877	Nocturnal hypoventilation	3	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1	.		702
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes			90
HP:0002795	HP:0002098	Respiratory distress	3	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040282 - Frequent		90
HP:0002795	HP:0002875	Exertional dyspnea	3	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040284 - Very rare		90
HP:0002795	HP:0010535	Sleep apnea	3	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040283 - Occasional		90
HP:0002795	HP:0045051	Decreased DLCO	3	COPA CL E G H	1314	2230	OMIM:616414	AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE; AILJK			5
HP:0002795	HP:0010535	Sleep apnea	3	COQ2 CL E G H	27235	25223	ORPHA:227510	Multiple system atrophy, cerebellar type			54
HP:0002795	HP:0010535	Sleep apnea	3	COQ2 CL E G H	27235	25223	ORPHA:98933	Multiple system atrophy, parkinsonian type			54
HP:0002795	HP:0002098	Respiratory distress	3	COQ7 CL E G H	10229	2244	OMIM:616733	Coenzyme Q10 deficiency, primary, 8			1
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	COX1 CL E G H	4512	7419	ORPHA:550	MELAS
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	COX2 CL E G H	4513	7421	ORPHA:550	MELAS
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	COX3 CL E G H	4514	7422	ORPHA:550	MELAS
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	COX5A CL E G H	9377	2267	OMIM:619064	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	COX6B1 CL E G H	1340	2280	OMIM:619051	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN7			10
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	COX7B CL E G H	1349	2291	OMIM:300887	Linear skin defects with multiple congenital anomalies 2			6
HP:0002795	HP:0002098	Respiratory distress	3	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional		6
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	COX8A CL E G H	1351	2294	OMIM:619059	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15; MC4DN15			1
HP:0002795	HP:0002876	Episodic tachypnea	3	CPLANE1 CL E G H	65250	25801	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent
HP:0002795	HP:0002876	Episodic tachypnea	3	CPLANE1 CL E G H	65250	25801	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional
HP:0002795	HP:0002098	Respiratory distress	3	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0002795	HP:0010535	Sleep apnea	3	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0002795	HP:0010535	Sleep apnea	3	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion			291
HP:0002795	HP:0010535	Sleep apnea	3	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations			291
HP:0002795	HP:0002098	Respiratory distress	3	CSF2RA CL E G H	1438	2435	ORPHA:264675	Hereditary pulmonary alveolar proteinosis	HP:0040282 - Frequent		15
HP:0002795	HP:0012418	Hypoxemia	3	CSF2RA CL E G H	1438	2435	ORPHA:264675	Hereditary pulmonary alveolar proteinosis	HP:0040282 - Frequent		15
HP:0002795	HP:0045051	Decreased DLCO	3	CSF2RA CL E G H	1438	2435	OMIM:300770	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4; SMDP4			15
HP:0002795	HP:0002098	Respiratory distress	3	CSF2RB CL E G H	1439	2436	ORPHA:264675	Hereditary pulmonary alveolar proteinosis	HP:0040282 - Frequent		17
HP:0002795	HP:0012418	Hypoxemia	3	CSF2RB CL E G H	1439	2436	ORPHA:264675	Hereditary pulmonary alveolar proteinosis	HP:0040282 - Frequent		17
HP:0002795	HP:0002875	Exertional dyspnea	3	CSF2RB CL E G H	1439	2436	OMIM:614370	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5; SMDP5			17
HP:0002795	HP:0002876	Episodic tachypnea	3	CSPP1 CL E G H	79848	26193	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		57
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder			20
HP:0002795	HP:0010535	Sleep apnea	3	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma	HP:0040283 - Occasional		88
HP:0002795	HP:0010535	Sleep apnea	3	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis			39
HP:0002795	HP:0002875	Exertional dyspnea	3	CYB5A CL E G H	1528	2570	ORPHA:621	Hereditary methemoglobinemia	HP:0040282 - Frequent		2
HP:0002795	HP:0002875	Exertional dyspnea	3	CYB5R3 CL E G H	1727	2873	ORPHA:621	Hereditary methemoglobinemia	HP:0040282 - Frequent		24
HP:0002795	HP:0002875	Exertional dyspnea	3	CYB5R3 CL E G H	1727	2873	OMIM:250800	Methemoglobinemia due to deficiency of methemoglobin reductase	.		24
HP:0002795	HP:0005348	Inspiratory stridor	3	D2HGDH CL E G H	728294	28358	OMIM:600721	D-2-Hydroxyglutaric aciduria 1	.		102
HP:0002795	HP:0010535	Sleep apnea	3	DCTN1 CL E G H	1639	2711	OMIM:105400	Amyotrophic lateral sclerosis 1	.		86
HP:0002795	HP:0007110	Central hypoventilation	3	DCTN1 CL E G H	1639	2711	OMIM:168605	Perry syndrome	.		86
HP:0002795	HP:0007110	Central hypoventilation	3	DCTN1 CL E G H	1639	2711	ORPHA:178509	Perry syndrome	HP:0040281 - Very frequent		86
HP:0002795	HP:0010535	Sleep apnea	3	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0002795	HP:0006543	Cardiorespiratory arrest	3	DDC CL E G H	1644	2719	OMIM:608643	Aromatic L-amino acid decarboxylase deficiency			43
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0002795	HP:0002098	Respiratory distress	3	DHX16 CL E G H	8449	2739	OMIM:618733	NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0002795	HP:0002098	Respiratory distress	3	DISC1 CL E G H	27185	2888	ORPHA:171703	Microcephaly-polymicrogyria-corpus callosum agenesis syndrome	HP:0040282 - Frequent		2
HP:0002795	HP:0002871	Central apnea	3	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		22
HP:0002795	HP:0002871	Central apnea	3	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		22
HP:0002795	HP:0002871	Central apnea	3	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		22
HP:0002795	HP:0002871	Central apnea	3	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		22
HP:0002795	HP:0010535	Sleep apnea	3	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0002795	HP:0002871	Central apnea	3	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		3
HP:0002795	HP:0002871	Central apnea	3	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		3
HP:0002795	HP:0002871	Central apnea	3	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		3
HP:0002795	HP:0002871	Central apnea	3	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		3
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome			9
HP:0002795	HP:0010535	Sleep apnea	3	DMD CL E G H	1756	2928	OMIM:310200	Duchenne muscular dystrophy			1496
HP:0002795	HP:0002098	Respiratory distress	3	DMPK CL E G H	1760	2933	OMIM:160900	Myotonic dystrophy 1	.		152
HP:0002795	HP:0002875	Exertional dyspnea	3	DNA2 CL E G H	1763	2939	ORPHA:352470	DNA2-related mitochondrial DNA deletion syndrome	HP:0040282 - Frequent		41
HP:0002795	HP:0010535	Sleep apnea	3	DNA2 CL E G H	1763	2939	ORPHA:352470	DNA2-related mitochondrial DNA deletion syndrome			41
HP:0002795	HP:0002875	Exertional dyspnea	3	DNA2 CL E G H	1763	2939	OMIM:615156	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 6	.		41
HP:0002795	HP:0010535	Sleep apnea	3	DNA2 CL E G H	1763	2939	OMIM:615156	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 6			41
HP:0002795	HP:0012263	Immotile cilia	3	DNAAF1 CL E G H	123872	30539	OMIM:613193	Ciliary dyskinesia, primary, 13			116
HP:0002795	HP:0012265	Ciliary dyskinesia	3	DNAAF1 CL E G H	123872	30539	OMIM:613193	Ciliary dyskinesia, primary, 13	.		116
HP:0002795	HP:0012263	Immotile cilia	3	DNAAF11 CL E G H	23639	16725	OMIM:614935	Ciliary dyskinesia, primary, 19	.
HP:0002795	HP:0012265	Ciliary dyskinesia	3	DNAAF11 CL E G H	23639	16725	OMIM:614935	Ciliary dyskinesia, primary, 19	.
HP:0002795	HP:0012265	Ciliary dyskinesia	3	DNAAF2 CL E G H	55172	20188	OMIM:612518	CILIARY DYSKINESIA, PRIMARY, 10; CILD10			78
HP:0002795	HP:0002098	Respiratory distress	3	DNAAF3 CL E G H	352909	30492	OMIM:606763	Ciliary dyskinesia, primary, 2	.		63
HP:0002795	HP:0012263	Immotile cilia	3	DNAAF3 CL E G H	352909	30492	OMIM:606763	Ciliary dyskinesia, primary, 2	.		63
HP:0002795	HP:0012265	Ciliary dyskinesia	3	DNAAF3 CL E G H	352909	30492	OMIM:606763	Ciliary dyskinesia, primary, 2	.		63
HP:0002795	HP:0012263	Immotile cilia	3	DNAAF4 CL E G H	161582	21493	OMIM:615482	Ciliary dyskinesia, primary, 25	.		27
HP:0002795	HP:0012265	Ciliary dyskinesia	3	DNAAF4 CL E G H	161582	21493	OMIM:615482	Ciliary dyskinesia, primary, 25	.		27
HP:0002795	HP:0012265	Ciliary dyskinesia	3	DNAAF5 CL E G H	54919	26013	OMIM:614874	Ciliary dyskinesia, primary, 18	.		62
HP:0002795	HP:0012265	Ciliary dyskinesia	3	DNAH11 CL E G H	8701	2942	OMIM:611884	CILIARY DYSKINESIA, PRIMARY, 7; CILD7			542
HP:0002795	HP:0012265	Ciliary dyskinesia	3	DNAH5 CL E G H	1767	2950	OMIM:608644	CILIARY DYSKINESIA, PRIMARY, 3; CILD3			527
HP:0002795	HP:0012263	Immotile cilia	3	DNAI1 CL E G H	27019	2954	OMIM:244400	Ciliary dyskinesia, primary, 1	.		73
HP:0002795	HP:0012265	Ciliary dyskinesia	3	DNAI1 CL E G H	27019	2954	OMIM:244400	Ciliary dyskinesia, primary, 1	.		73
HP:0002795	HP:0012265	Ciliary dyskinesia	3	DNAI2 CL E G H	64446	18744	OMIM:612444	CILIARY DYSKINESIA, PRIMARY, 9; CILD9			104
HP:0002795	HP:0002098	Respiratory distress	3	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1	.		5
HP:0002795	HP:0012265	Ciliary dyskinesia	3	DNAL1 CL E G H	83544	23247	OMIM:614017	CILIARY DYSKINESIA, PRIMARY, 16; CILD16			167
HP:0002795	HP:0012768	Neonatal asphyxia	3	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040283 - Occasional		167
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome			18
HP:0002795	HP:0002875	Exertional dyspnea	3	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		91
HP:0002795	HP:0012764	Orthopnea	3	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		91
HP:0002795	HP:0010535	Sleep apnea	3	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome	HP:0040283 - Occasional		3
HP:0002795	HP:0010535	Sleep apnea	3	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0002795	HP:0002098	Respiratory distress	3	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE	.		27
HP:0002795	HP:0002098	Respiratory distress	3	DPM2 CL E G H	8818	3006	OMIM:615042	Congenital disorder of glycosylation, type Iu	.		26
HP:0002795	HP:0002098	Respiratory distress	3	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy	HP:0040283 - Occasional		26
HP:0002795	HP:0002875	Exertional dyspnea	3	DPP9 CL E G H	91039	18648	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent
HP:0002795	HP:0012265	Ciliary dyskinesia	3	DRC1 CL E G H	92749	24245	OMIM:615294	CILIARY DYSKINESIA, PRIMARY, 21; CILD21			44
HP:0002795	HP:0002875	Exertional dyspnea	3	DSP CL E G H	1832	3052	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent		747
HP:0002795	HP:0002098	Respiratory distress	3	DYNC2LI1 CL E G H	51626	24595	OMIM:617088	Short-rib thoracic dysplasia 15 with polydactyly	.		7
HP:0002795	HP:0002098	Respiratory distress	3	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked	.		115
HP:0002795	HP:0002098	Respiratory distress	3	EDN1 CL E G H	1906	3176	ORPHA:137888	Auriculocondylar syndrome	HP:0040282 - Frequent		6
HP:0002795	HP:0010535	Sleep apnea	3	EDN1 CL E G H	1906	3176	ORPHA:137888	Auriculocondylar syndrome			6
HP:0002795	HP:0002098	Respiratory distress	3	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type	.		48
HP:0002795	HP:0002875	Exertional dyspnea	3	EIF2AK4 CL E G H	440275	19687	ORPHA:199241	Pulmonary capillary hemangiomatosis	HP:0040282 - Frequent		40
HP:0002795	HP:0045051	Decreased DLCO	3	EIF2AK4 CL E G H	440275	19687	ORPHA:199241	Pulmonary capillary hemangiomatosis	HP:0040281 - Very frequent		40
HP:0002795	HP:0012418	Hypoxemia	3	EIF2AK4 CL E G H	440275	19687	ORPHA:199241	Pulmonary capillary hemangiomatosis	HP:0040282 - Frequent		40
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	EIF2AK4 CL E G H	440275	19687	OMIM:234810	PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD2			40
HP:0002795	HP:0045051	Decreased DLCO	3	EIF2AK4 CL E G H	440275	19687	OMIM:234810	PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD2			40
HP:0002795	HP:0002875	Exertional dyspnea	3	ELN CL E G H	2006	3327	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent		172
HP:0002795	HP:0012763	Paroxysmal dyspnea	3	ELN CL E G H	2006	3327	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent		172
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	ENG CL E G H	2022	3349	ORPHA:774	Hereditary hemorrhagic telangiectasia			186
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1			186
HP:0002795	HP:0002875	Exertional dyspnea	3	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1			186
HP:0002795	HP:0012418	Hypoxemia	3	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1			186
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy			151
HP:0002795	HP:0002098	Respiratory distress	3	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040282 - Frequent		151
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome			4
HP:0002795	HP:0002098	Respiratory distress	3	EOMES CL E G H	8320	3372	ORPHA:171703	Microcephaly-polymicrogyria-corpus callosum agenesis syndrome	HP:0040282 - Frequent		7
HP:0002795	HP:0002098	Respiratory distress	3	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0002795	HP:0010535	Sleep apnea	3	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0002795	HP:0010535	Sleep apnea	3	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency			250
HP:0002795	HP:0002098	Respiratory distress	3	EPHB4 CL E G H	2050	3395	OMIM:617300	Lymphatic malformation 7	.		3
HP:0002795	HP:0002875	Exertional dyspnea	3	EPOR CL E G H	2057	3416	ORPHA:90042	Primary familial polycythemia	HP:0040283 - Occasional		43
HP:0002795	HP:0002098	Respiratory distress	3	ERF CL E G H	2077	3444	OMIM:617180	Chitayat syndrome			12
HP:0002795	HP:0002098	Respiratory distress	3	ERGIC1 CL E G H	57222	29205	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040283 - Occasional
HP:0002795	HP:0002098	Respiratory distress	3	ETFA CL E G H	2108	3481	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.		37
HP:0002795	HP:0002098	Respiratory distress	3	ETFB CL E G H	2109	3482	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.		27
HP:0002795	HP:0002098	Respiratory distress	3	ETFDH CL E G H	2110	3483	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.		77
HP:0002795	HP:0010535	Sleep apnea	3	EXOC2 CL E G H	55770	24968	OMIM:619306	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH			1
HP:0002795	HP:0006543	Cardiorespiratory arrest	3	EXOC6B CL E G H	23233	17085	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity	HP:0040283 - Occasional		3
HP:0002795	HP:0005348	Inspiratory stridor	3	EXOSC3 CL E G H	51010	17944	ORPHA:2254	Pontocerebellar hypoplasia type 1			38
HP:0002795	HP:0005348	Inspiratory stridor	3	EXOSC8 CL E G H	11340	17035	ORPHA:2254	Pontocerebellar hypoplasia type 1			4
HP:0002795	HP:0005348	Inspiratory stridor	3	EXOSC9 CL E G H	5393	9137	ORPHA:2254	Pontocerebellar hypoplasia type 1
HP:0002795	HP:0012271	Episodic upper airway obstruction	3	F12 CL E G H	2161	3530	OMIM:610618	ANGIOEDEMA, HEREDITARY, TYPE III; HAE3			28
HP:0002795	HP:0002875	Exertional dyspnea	3	FAM13A CL E G H	10144	19367	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent
HP:0002795	HP:0002876	Episodic tachypnea	3	FAM149B1 CL E G H	317662	29162	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional
HP:0002795	HP:0002098	Respiratory distress	3	FAM20C CL E G H	56975	22140	ORPHA:1832	Lethal osteosclerotic bone dysplasia	HP:0040282 - Frequent		35
HP:0002795	HP:0002882	Sudden episodic apnea	3	FARS2 CL E G H	10667	21062	ORPHA:466722	Autosomal recessive spastic paraplegia type 77	HP:0040283 - Occasional		36
HP:0002795	HP:0002875	Exertional dyspnea	3	FBN1 CL E G H	2200	3603	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent		1361
HP:0002795	HP:0012763	Paroxysmal dyspnea	3	FBN1 CL E G H	2200	3603	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent		1361
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	FBN1 CL E G H	2200	3603	OMIM:614185	GELEOPHYSIC DYSPLASIA 2; GPHYSD2			1361
HP:0002795	HP:0012418	Hypoxemia	3	FBN1 CL E G H	2200	3603	ORPHA:284979	Neonatal Marfan syndrome	HP:0040281 - Very frequent		1361
HP:0002795	HP:0002098	Respiratory distress	3	FBP1 CL E G H	2203	3606	ORPHA:348	Fructose-1,6-bisphosphatase deficiency	HP:0040283 - Occasional		64
HP:0002795	HP:0002876	Episodic tachypnea	3	FBP1 CL E G H	2203	3606	ORPHA:348	Fructose-1,6-bisphosphatase deficiency	HP:0040283 - Occasional		64
HP:0002795	HP:0004879	Intermittent hyperventilation	3	FBP1 CL E G H	2203	3606	ORPHA:348	Fructose-1,6-bisphosphatase deficiency	HP:0040283 - Occasional		64
HP:0002795	HP:0005949	Apneic episodes in infancy	3	FBP1 CL E G H	2203	3606	ORPHA:348	Fructose-1,6-bisphosphatase deficiency	HP:0040283 - Occasional		64
HP:0002795	HP:0010535	Sleep apnea	3	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0002795	HP:0005949	Apneic episodes in infancy	3	FGF13 CL E G H	2258	3670	OMIM:301058	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE90			1
HP:0002795	HP:0002871	Central apnea	3	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		17
HP:0002795	HP:0002871	Central apnea	3	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		17
HP:0002795	HP:0002871	Central apnea	3	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		17
HP:0002795	HP:0002871	Central apnea	3	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		17
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	FGFR1 CL E G H	2260	3688	ORPHA:2396	Encephalocraniocutaneous lipomatosis			172
HP:0002795	HP:0002871	Central apnea	3	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		172
HP:0002795	HP:0002098	Respiratory distress	3	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia	.		172
HP:0002795	HP:0002871	Central apnea	3	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		172
HP:0002795	HP:0002098	Respiratory distress	3	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome	.		175
HP:0002795	HP:0010535	Sleep apnea	3	FGFR2 CL E G H	2263	3689	OMIM:123500	Crouzon syndrome	.		175
HP:0002795	HP:0002098	Respiratory distress	3	FGFR2 CL E G H	2263	3689	ORPHA:1555	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome	HP:0040281 - Very frequent		175
HP:0002795	HP:0002098	Respiratory distress	3	FGFR2 CL E G H	2263	3689	ORPHA:93259	Pfeiffer syndrome type 2	HP:0040281 - Very frequent		175
HP:0002795	HP:0002098	Respiratory distress	3	FGFR2 CL E G H	2263	3689	ORPHA:93260	Pfeiffer syndrome type 3	HP:0040281 - Very frequent		175
HP:0002795	HP:0010535	Sleep apnea	3	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome	HP:0040283 - Occasional		175
HP:0002795	HP:0002098	Respiratory distress	3	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA			145
HP:0002795	HP:0010535	Sleep apnea	3	FGFR3 CL E G H	2261	3690	ORPHA:15	Achondroplasia			145
HP:0002795	HP:0012418	Hypoxemia	3	FGFR3 CL E G H	2261	3690	ORPHA:15	Achondroplasia	HP:0040283 - Occasional		145
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	FGFR3 CL E G H	2261	3690	OMIM:616482	Achondroplasia, severe, with developmental delay and acanthosis nigricans			145
HP:0002795	HP:0002871	Central apnea	3	FGFR3 CL E G H	2261	3690	OMIM:616482	Achondroplasia, severe, with developmental delay and acanthosis nigricans	.		145
HP:0002795	HP:0010535	Sleep apnea	3	FGFR3 CL E G H	2261	3690	OMIM:616482	Achondroplasia, severe, with developmental delay and acanthosis nigricans	.		145
HP:0002795	HP:0010535	Sleep apnea	3	FGFR3 CL E G H	2261	3690	ORPHA:429	Hypochondroplasia	HP:0040283 - Occasional		145
HP:0002795	HP:0010535	Sleep apnea	3	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome	HP:0040283 - Occasional		145
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome			111
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome			111
HP:0002795	HP:0002875	Exertional dyspnea	3	FIP1L1 CL E G H	81608	19124	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent		4
HP:0002795	HP:0002877	Nocturnal hypoventilation	3	FKRP CL E G H	79147	17997	OMIM:607155	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5	.		157
HP:0002795	HP:0010535	Sleep apnea	3	FLCN CL E G H	201163	27310	OMIM:610883	Potocki-Lupski syndrome			332
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome			493
HP:0002795	HP:0012764	Orthopnea	3	FLNC CL E G H	2318	3756	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040283 - Occasional		197
HP:0002795	HP:0002875	Exertional dyspnea	3	FOXE3 CL E G H	2301	3808	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent		23
HP:0002795	HP:0012763	Paroxysmal dyspnea	3	FOXE3 CL E G H	2301	3808	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent		23
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins			61
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia			61
HP:0002795	HP:0002098	Respiratory distress	3	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia	HP:0040281 - Very frequent		61
HP:0002795	HP:0002871	Central apnea	3	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		48
HP:0002795	HP:0002871	Central apnea	3	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		48
HP:0002795	HP:0002871	Central apnea	3	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		48
HP:0002795	HP:0002871	Central apnea	3	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		48
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome			184
HP:0002795	HP:0002098	Respiratory distress	3	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome	HP:0040283 - Occasional		32
HP:0002795	HP:0005348	Inspiratory stridor	3	FUZ CL E G H	80199	26219	ORPHA:1136	Arnold-Chiari malformation type II	HP:0040283 - Occasional		3
HP:0002795	HP:0010535	Sleep apnea	3	FXR1 CL E G H	8087	4023	OMIM:618823	MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS; MYOPMIL
HP:0002795	HP:0010535	Sleep apnea	3	FXR1 CL E G H	8087	4023	OMIM:618822	MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES; MYORIBF
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive			37
HP:0002795	HP:0002098	Respiratory distress	3	GAA CL E G H	2548	4065	ORPHA:308552	Glycogen storage disease due to acid maltase deficiency, infantile onset	HP:0040282 - Frequent		407
HP:0002795	HP:0002876	Episodic tachypnea	3	GABBR2 CL E G H	9568	4507	ORPHA:3095	Atypical Rett syndrome	HP:0040282 - Frequent		5
HP:0002795	HP:0002882	Sudden episodic apnea	3	GABBR2 CL E G H	9568	4507	ORPHA:3095	Atypical Rett syndrome	HP:0040282 - Frequent		5
HP:0002795	HP:0010535	Sleep apnea	3	GABRG2 CL E G H	2566	4087	ORPHA:1945	Rolandic epilepsy	HP:0040282 - Frequent		139
HP:0002795	HP:0002098	Respiratory distress	3	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease	HP:0040283 - Occasional		160
HP:0002795	HP:0012768	Neonatal asphyxia	3	GALK1 CL E G H	2584	4118	ORPHA:79237	Galactokinase deficiency	HP:0040284 - Very rare		23
HP:0002795	HP:0002871	Central apnea	3	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		2
HP:0002795	HP:0002871	Central apnea	3	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		2
HP:0002795	HP:0002871	Central apnea	3	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		2
HP:0002795	HP:0002871	Central apnea	3	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		2
HP:0002795	HP:0012265	Ciliary dyskinesia	3	GAS8 CL E G H	2622	4166	OMIM:616726	Ciliary dyskinesia, primary, 33			9
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	GATA4 CL E G H	2626	4173	ORPHA:99103	Atrial septal defect, ostium secundum type			87
HP:0002795	HP:0002875	Exertional dyspnea	3	GATA4 CL E G H	2626	4173	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040282 - Frequent		87
HP:0002795	HP:0012764	Orthopnea	3	GATA4 CL E G H	2626	4173	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional		87
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	GATA6 CL E G H	2627	4174	OMIM:614475	Atrial septal defect 9			37
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	GATA6 CL E G H	2627	4174	ORPHA:99103	Atrial septal defect, ostium secundum type			37
HP:0002795	HP:0002875	Exertional dyspnea	3	GATA6 CL E G H	2627	4174	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040282 - Frequent		37
HP:0002795	HP:0012764	Orthopnea	3	GATA6 CL E G H	2627	4174	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional		37
HP:0002795	HP:0002098	Respiratory distress	3	GATA6 CL E G H	2627	4174	ORPHA:2140	Congenital diaphragmatic hernia	HP:0040282 - Frequent		37
HP:0002795	HP:0012418	Hypoxemia	3	GATA6 CL E G H	2627	4174	ORPHA:2140	Congenital diaphragmatic hernia	HP:0040282 - Frequent		37
HP:0002795	HP:0002098	Respiratory distress	3	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	HP:0040283 - Occasional		37
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	GBA1 CL E G H	2629	4177	ORPHA:77259	Gaucher disease type 1
HP:0002795	HP:0002098	Respiratory distress	3	GBA1 CL E G H	2629	4177	ORPHA:77260	Gaucher disease type 2	HP:0040282 - Frequent
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	GBA1 CL E G H	2629	4177	ORPHA:77261	Gaucher disease type 3
HP:0002795	HP:0002098	Respiratory distress	3	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal	.
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	GBA1 CL E G H	2629	4177	OMIM:230800	Gaucher disease, type I
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	GDF2 CL E G H	2658	4217	ORPHA:774	Hereditary hemorrhagic telangiectasia			8
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	GJA1 CL E G H	2697	4274	OMIM:600309	Atrioventricular septal defect 3			68
HP:0002795	HP:0002871	Central apnea	3	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		173
HP:0002795	HP:0002871	Central apnea	3	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		173
HP:0002795	HP:0002871	Central apnea	3	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		173
HP:0002795	HP:0002871	Central apnea	3	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		173
HP:0002795	HP:0002098	Respiratory distress	3	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent		3
HP:0002795	HP:0002098	Respiratory distress	3	GNAI3 CL E G H	2773	4387	ORPHA:137888	Auriculocondylar syndrome	HP:0040282 - Frequent		2
HP:0002795	HP:0010535	Sleep apnea	3	GNAI3 CL E G H	2773	4387	ORPHA:137888	Auriculocondylar syndrome			2
HP:0002795	HP:0010535	Sleep apnea	3	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria	HP:0040281 - Very frequent		173
HP:0002795	HP:0010535	Sleep apnea	3	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA	.		173
HP:0002795	HP:0010535	Sleep apnea	3	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II			240
HP:0002795	HP:0010535	Sleep apnea	3	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly	HP:0040282 - Frequent		5
HP:0002795	HP:0010535	Sleep apnea	3	GPR101 CL E G H	83550	14963	OMIM:300942	Chromosome Xq26.3 duplication syndrome	.		5
HP:0002795	HP:0006543	Cardiorespiratory arrest	3	GPX4 CL E G H	2879	4556	ORPHA:93317	Spondylometaphyseal dysplasia, Sedaghatian type	HP:0040281 - Very frequent		3
HP:0002795	HP:0010535	Sleep apnea	3	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
HP:0002795	HP:0010535	Sleep apnea	3	GRIN2A CL E G H	2903	4585	ORPHA:1945	Rolandic epilepsy	HP:0040282 - Frequent		434
HP:0002795	HP:0010535	Sleep apnea	3	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis	HP:0040283 - Occasional		53
HP:0002795	HP:0012763	Paroxysmal dyspnea	3	GTPBP3 CL E G H	84705	14880	ORPHA:444013	Combined oxidative phosphorylation defect type 23	HP:0040283 - Occasional		30
HP:0002795	HP:0025372	Loud snoring	3	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII			54
HP:0002795	HP:0010535	Sleep apnea	3	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII			54
HP:0002795	HP:0002875	Exertional dyspnea	3	GYG1 CL E G H	2992	4699	ORPHA:263297	Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency	HP:0040282 - Frequent		18
HP:0002795	HP:0010535	Sleep apnea	3	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0002795	HP:0005949	Apneic episodes in infancy	3	HACD1 CL E G H	9200	9639	OMIM:619967				2
HP:0002795	HP:0012416	Hypercapnia	3	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		2
HP:0002795	HP:0012418	Hypoxemia	3	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		2
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	HBB CL E G H	3043	4827	ORPHA:231222	Beta-thalassemia intermedia			580
HP:0002795	HP:0012418	Hypoxemia	3	HBB CL E G H	3043	4827	ORPHA:232	Sickle cell anemia	HP:0040283 - Occasional		580
HP:0002795	HP:0012418	Hypoxemia	3	HBB CL E G H	3043	4827	OMIM:603903	Sickle cell anemia	.		580
HP:0002795	HP:0002098	Respiratory distress	3	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional		11
HP:0002795	HP:0010535	Sleep apnea	3	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0002795	HP:0002875	Exertional dyspnea	3	HEY2 CL E G H	23493	4881	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent
HP:0002795	HP:0012763	Paroxysmal dyspnea	3	HEY2 CL E G H	23493	4881	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	HLA-B CL E G H	3106	4932	ORPHA:3287	Takayasu arteritis			4
HP:0002795	HP:0045051	Decreased DLCO	3	HLA-DRB1 CL E G H	3123	4948	ORPHA:747	Autoimmune pulmonary alveolar proteinosis	HP:0040282 - Frequent		2
HP:0002795	HP:0012418	Hypoxemia	3	HLA-DRB1 CL E G H	3123	4948	ORPHA:747	Autoimmune pulmonary alveolar proteinosis	HP:0040282 - Frequent		2
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	HLA-DRB1 CL E G H	3123	4948	ORPHA:220393	Diffuse cutaneous systemic sclerosis			2
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	HLA-DRB1 CL E G H	3123	4948	ORPHA:220402	Limited cutaneous systemic sclerosis			2
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1			2
HP:0002795	HP:0012418	Hypoxemia	3	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1			2
HP:0002795	HP:0002098	Respiratory distress	3	HLCS CL E G H	3141	4976	ORPHA:79242	Holocarboxylase synthetase deficiency	HP:0040282 - Frequent		148
HP:0002795	HP:0002877	Nocturnal hypoventilation	3	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion	HP:0040283 - Occasional		8
HP:0002795	HP:0002877	Nocturnal hypoventilation	3	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation	HP:0040283 - Occasional		8
HP:0002795	HP:0007110	Central hypoventilation	3	HOXA1 CL E G H	3198	5099	OMIM:601536	ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME; ABDS			34
HP:0002795	HP:0010535	Sleep apnea	3	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome			113
HP:0002795	HP:0012768	Neonatal asphyxia	3	HSD3B2 CL E G H	3284	5218	ORPHA:90791	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency	HP:0040283 - Occasional		34
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome			345
HP:0002795	HP:0012265	Ciliary dyskinesia	3	HYDIN CL E G H	54768	19368	OMIM:608647	Ciliary dyskinesia, primary, 5	.		21
HP:0002795	HP:0002876	Episodic tachypnea	3	HYLS1 CL E G H	219844	26558	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		31
HP:0002795	HP:0002098	Respiratory distress	3	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria			15
HP:0002795	HP:0010535	Sleep apnea	3	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form	HP:0040282 - Frequent		86
HP:0002795	HP:0010535	Sleep apnea	3	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form	HP:0040282 - Frequent		86
HP:0002795	HP:0010535	Sleep apnea	3	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II			86
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome			115
HP:0002795	HP:0010535	Sleep apnea	3	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome			115
HP:0002795	HP:0010535	Sleep apnea	3	IDUA CL E G H	3425	5391	OMIM:607016	Scheie syndrome			115
HP:0002795	HP:0002098	Respiratory distress	3	IFIH1 CL E G H	64135	18873	OMIM:619773	IMMUNODEFICIENCY 95; IMD95			28
HP:0002795	HP:0002098	Respiratory distress	3	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex	HP:0040283 - Occasional		23
HP:0002795	HP:0002098	Respiratory distress	3	IFT52 CL E G H	51098	15901	OMIM:617102	Short-Rib thoracic dysplasia 16 with or without polydactyly	.		4
HP:0002795	HP:0002098	Respiratory distress	3	IFT81 CL E G H	28981	14313	OMIM:617895	Short-Rib thoracic dysplasia 19 with or without polydactyly			2
HP:0002795	HP:0005348	Inspiratory stridor	3	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1	.		209
HP:0002795	HP:0005946	Ventilator dependence with inability to wean	3	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1	.		209
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti			52
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	IL12B CL E G H	3593	5970	ORPHA:3287	Takayasu arteritis			31
HP:0002795	HP:0002098	Respiratory distress	3	IL1RN CL E G H	3557	6000	OMIM:612852	Interleukin 1 receptor antagonist deficiency			40
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	IL6ST CL E G H	3572	6021	OMIM:619751	STUVE-WIEDEMANN SYNDROME 2; STWS2
HP:0002795	HP:0002098	Respiratory distress	3	IL6ST CL E G H	3572	6021	OMIM:619751	STUVE-WIEDEMANN SYNDROME 2; STWS2
HP:0002795	HP:0002876	Episodic tachypnea	3	INPP5E CL E G H	56623	21474	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		111
HP:0002795	HP:0002871	Central apnea	3	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1	.		111
HP:0002795	HP:0002876	Episodic tachypnea	3	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1	.		111
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0002795	HP:0010535	Sleep apnea	3	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0002795	HP:0002875	Exertional dyspnea	3	IRF2BP2 CL E G H	359948	21729	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent		4
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	IRF5 CL E G H	3663	6120	ORPHA:220393	Diffuse cutaneous systemic sclerosis			4
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	IRF5 CL E G H	3663	6120	ORPHA:220402	Limited cutaneous systemic sclerosis			4
HP:0002795	HP:0002098	Respiratory distress	3	ITGA3 CL E G H	3675	6139	OMIM:614748	Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital			6
HP:0002795	HP:0012416	Hypercapnia	3	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		127
HP:0002795	HP:0012418	Hypoxemia	3	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		127
HP:0002795	HP:0002875	Exertional dyspnea	3	JAK2 CL E G H	3717	6192	OMIM:133100	Erythrocytosis, familial, 1	.		57
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	JAK2 CL E G H	3717	6192	ORPHA:71493	Familial thrombocytosis			57
HP:0002795	HP:0002098	Respiratory distress	3	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0002795	HP:0002098	Respiratory distress	3	KATNB1 CL E G H	10300	6217	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040283 - Occasional		10
HP:0002795	HP:0002876	Episodic tachypnea	3	KATNIP CL E G H	23247	29068	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent
HP:0002795	HP:0002098	Respiratory distress	3	KCNA1 CL E G H	3736	6218	ORPHA:37612	Episodic ataxia type 1	HP:0040283 - Occasional		145
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	KCNK3 CL E G H	3777	6278	OMIM:615344	Pulmonary hypertension, primary, 4			7
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	KIAA0319L CL E G H	79932	30071	ORPHA:220402	Limited cutaneous systemic sclerosis
HP:0002795	HP:0002876	Episodic tachypnea	3	KIAA0586 CL E G H	9786	19960	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		24
HP:0002795	HP:0002876	Episodic tachypnea	3	KIAA0753 CL E G H	9851	29110	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional		4
HP:0002795	HP:0012764	Orthopnea	3	KIF20A CL E G H	10112	9787	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040283 - Occasional
HP:0002795	HP:0004875	Neonatal inspiratory stridor	3	KIF22 CL E G H	3835	6391	ORPHA:93360	Spondyloepimetaphyseal dysplasia with multiple dislocations	HP:0040283 - Occasional		14
HP:0002795	HP:0005348	Inspiratory stridor	3	KIF22 CL E G H	3835	6391	ORPHA:93360	Spondyloepimetaphyseal dysplasia with multiple dislocations			14
HP:0002795	HP:0002876	Episodic tachypnea	3	KIF7 CL E G H	374654	30497	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional		167
HP:0002795	HP:0006543	Cardiorespiratory arrest	3	KIT CL E G H	3815	6342	ORPHA:280785	Bullous diffuse cutaneous mastocytosis	HP:0040283 - Occasional		327
HP:0002795	HP:0002877	Nocturnal hypoventilation	3	KLHL41 CL E G H	10324	16905	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		13
HP:0002795	HP:0002098	Respiratory distress	3	KLHL7 CL E G H	55975	15646	OMIM:617055	Crisponi/cold-Induced sweating syndrome 3	.		42
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	KRAS CL E G H	3845	6407	ORPHA:2396	Encephalocraniocutaneous lipomatosis			196
HP:0002795	HP:0002098	Respiratory distress	3	KRT16 CL E G H	3868	6423	ORPHA:2309	Pachyonychia congenita	HP:0040284 - Very rare		27
HP:0002795	HP:0002098	Respiratory distress	3	KRT17 CL E G H	3872	6427	ORPHA:2309	Pachyonychia congenita	HP:0040284 - Very rare		23
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	KRT18 CL E G H	3875	6430	OMIM:215600	Cirrhosis, familial			19
HP:0002795	HP:0002098	Respiratory distress	3	KRT6A CL E G H	3853	6443	ORPHA:2309	Pachyonychia congenita	HP:0040284 - Very rare		41
HP:0002795	HP:0002098	Respiratory distress	3	KRT6B CL E G H	3854	6444	ORPHA:2309	Pachyonychia congenita	HP:0040284 - Very rare		4
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy			411
HP:0002795	HP:0002098	Respiratory distress	3	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional		116
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes			92
HP:0002795	HP:0002098	Respiratory distress	3	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040282 - Frequent		92
HP:0002795	HP:0002875	Exertional dyspnea	3	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040284 - Very rare		92
HP:0002795	HP:0010535	Sleep apnea	3	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040283 - Occasional		92
HP:0002795	HP:0002098	Respiratory distress	3	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional		167
HP:0002795	HP:0002098	Respiratory distress	3	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional		135
HP:0002795	HP:0006543	Cardiorespiratory arrest	3	LAMP2 CL E G H	3920	6501	ORPHA:34587	Glycogen storage disease due to LAMP-2 deficiency	HP:0040281 - Very frequent		211
HP:0002795	HP:0010535	Sleep apnea	3	LARP7 CL E G H	51574	24912	ORPHA:319671	Alazami syndrome	HP:0040283 - Occasional		16
HP:0002795	HP:0007110	Central hypoventilation	3	LBX1 CL E G H	10660	16960	OMIM:619483	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 3; CCHS3
HP:0002795	HP:0002098	Respiratory distress	3	LGI4 CL E G H	163175	18712	ORPHA:2680	Hypomyelination neuropathy-arthrogryposis syndrome	HP:0040281 - Very frequent		6
HP:0002795	HP:0002098	Respiratory distress	3	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome	HP:0040282 - Frequent		144
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome			144
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	LIPT1 CL E G H	51601	29569	OMIM:616299	Lipoyltransferase 1 deficiency			21
HP:0002795	HP:0002875	Exertional dyspnea	3	LMNA CL E G H	4000	6636	OMIM:181350	Emery-Dreifuss muscular dystrophy 2, autosomal dominant			645
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome			645
HP:0002795	HP:0002875	Exertional dyspnea	3	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040282 - Frequent		645
HP:0002795	HP:0002098	Respiratory distress	3	LMNA CL E G H	4000	6636	OMIM:619793	RESTRICTIVE DERMOPATHY 2; RSDM2			645
HP:0002795	HP:0002877	Nocturnal hypoventilation	3	LMOD3 CL E G H	56203	6649	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		11
HP:0002795	HP:0002098	Respiratory distress	3	LONP1 CL E G H	9361	9479	ORPHA:2140	Congenital diaphragmatic hernia	HP:0040282 - Frequent		8
HP:0002795	HP:0012418	Hypoxemia	3	LONP1 CL E G H	9361	9479	ORPHA:2140	Congenital diaphragmatic hernia	HP:0040282 - Frequent		8
HP:0002795	HP:0002875	Exertional dyspnea	3	LOX CL E G H	4015	6664	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent		6
HP:0002795	HP:0012763	Paroxysmal dyspnea	3	LOX CL E G H	4015	6664	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent		6
HP:0002795	HP:0002098	Respiratory distress	3	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1
HP:0002795	HP:0012416	Hypercapnia	3	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1
HP:0002795	HP:0002875	Exertional dyspnea	3	LRP4 CL E G H	4038	6696	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		124
HP:0002795	HP:0012764	Orthopnea	3	LRP4 CL E G H	4038	6696	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		124
HP:0002795	HP:0010535	Sleep apnea	3	LRPPRC CL E G H	10128	15714	ORPHA:70472	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type			191
HP:0002795	HP:0010535	Sleep apnea	3	LRRC32 CL E G H	2615	4161	OMIM:619074	CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY; CPPRDD
HP:0002795	HP:0010535	Sleep apnea	3	LTBP3 CL E G H	4054	6716	OMIM:617809	Geleophysic dysplasia 3	.		12
HP:0002795	HP:0002098	Respiratory distress	3	LYRM4 CL E G H	57128	21365	OMIM:615595	Combined oxidative phosphorylation deficiency 19	.		4
HP:0002795	HP:0010535	Sleep apnea	3	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome	HP:0040282 - Frequent		63
HP:0002795	HP:0010535	Sleep apnea	3	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0002795	HP:0002871	Central apnea	3	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040283 - Occasional		63
HP:0002795	HP:0010535	Sleep apnea	3	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			63
HP:0002795	HP:0002871	Central apnea	3	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040283 - Occasional		63
HP:0002795	HP:0010535	Sleep apnea	3	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			63
HP:0002795	HP:0002871	Central apnea	3	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040283 - Occasional		63
HP:0002795	HP:0010535	Sleep apnea	3	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			63
HP:0002795	HP:0010535	Sleep apnea	3	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome	.		63
HP:0002795	HP:0012416	Hypercapnia	3	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		2
HP:0002795	HP:0012418	Hypoxemia	3	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		2
HP:0002795	HP:0002098	Respiratory distress	3	MAPT CL E G H	4137	6893	ORPHA:240103	Progressive supranuclear palsy-corticobasal syndrome	HP:0040284 - Very rare		140
HP:0002795	HP:0002098	Respiratory distress	3	MAPT CL E G H	4137	6893	ORPHA:240085	Progressive supranuclear palsy-parkinsonism syndrome	HP:0040283 - Occasional		140
HP:0002795	HP:0012418	Hypoxemia	3	MARS1 CL E G H	4141	6898	OMIM:615486	Interstitial lung and liver disease
HP:0002795	HP:0002875	Exertional dyspnea	3	MAT2A CL E G H	4144	6904	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent		13
HP:0002795	HP:0012763	Paroxysmal dyspnea	3	MAT2A CL E G H	4144	6904	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent		13
HP:0002795	HP:0010535	Sleep apnea	3	MCM3AP CL E G H	8888	6946	OMIM:618124	Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development			3
HP:0002795	HP:0002876	Episodic tachypnea	3	MECP2 CL E G H	4204	6990	ORPHA:3095	Atypical Rett syndrome	HP:0040282 - Frequent		950
HP:0002795	HP:0002882	Sudden episodic apnea	3	MECP2 CL E G H	4204	6990	ORPHA:3095	Atypical Rett syndrome	HP:0040282 - Frequent		950
HP:0002795	HP:0007110	Central hypoventilation	3	MECP2 CL E G H	4204	6990	OMIM:300673	Encephalopathy, neonatal severe, due to mecp2 mutations	.		950
HP:0002795	HP:0004879	Intermittent hyperventilation	3	MECP2 CL E G H	4204	6990	OMIM:312750	Rett syndrome	.		950
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1			228
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome			43
HP:0002795	HP:0010535	Sleep apnea	3	MED27 CL E G H	9442	2377	OMIM:619286	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0002795	HP:0002098	Respiratory distress	3	MEGF10 CL E G H	84466	29634	OMIM:614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset	.		158
HP:0002795	HP:0002875	Exertional dyspnea	3	MFAP5 CL E G H	8076	29673	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent		11
HP:0002795	HP:0012763	Paroxysmal dyspnea	3	MFAP5 CL E G H	8076	29673	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent		11
HP:0002795	HP:0002098	Respiratory distress	3	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG	HP:0040283 - Occasional		39
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	MGP CL E G H	4256	7060	ORPHA:85202	Keutel syndrome			33
HP:0002795	HP:0005348	Inspiratory stridor	3	MIR140 CL E G H	406932	31527	OMIM:618618	SPONDYLOEPIPHYSEAL DYSPLASIA, NISHIMURA TYPE; SEDN
HP:0002795	HP:0010535	Sleep apnea	3	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0002795	HP:0010535	Sleep apnea	3	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0002795	HP:0002876	Episodic tachypnea	3	MKS1 CL E G H	54903	7121	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		127
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	MLX CL E G H	6945	11645	ORPHA:3287	Takayasu arteritis
HP:0002795	HP:0002098	Respiratory distress	3	MMAA CL E G H	166785	18871	OMIM:251100	Methylmalonic aciduria, Cbla type	.		113
HP:0002795	HP:0002098	Respiratory distress	3	MMAB CL E G H	326625	19331	OMIM:251110	Methylmalonic aciduria, Cblb type	.		127
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC			101
HP:0002795	HP:0002098	Respiratory distress	3	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC	HP:0040283 - Occasional		101
HP:0002795	HP:0002098	Respiratory distress	3	MMUT CL E G H	4594	7526	OMIM:251000	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
HP:0002795	HP:0002098	Respiratory distress	3	MMUT CL E G H	4594	7526	ORPHA:79312	Vitamin B12-unresponsive methylmalonic acidemia type mut-	HP:0040281 - Very frequent
HP:0002795	HP:0002098	Respiratory distress	3	MMUT CL E G H	4594	7526	ORPHA:289916	Vitamin B12-unresponsive methylmalonic acidemia type mut0	HP:0040282 - Frequent
HP:0002795	HP:0002098	Respiratory distress	3	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG	HP:0040283 - Occasional		37
HP:0002795	HP:0002098	Respiratory distress	3	MPC1 CL E G H	51660	21606	OMIM:614741	Mitochondrial pyruvate carrier deficiency	HP:0040283 - Occasional		6
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	MPL CL E G H	4352	7217	ORPHA:71493	Familial thrombocytosis			97
HP:0002795	HP:0002098	Respiratory distress	3	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy			56
HP:0002795	HP:0010535	Sleep apnea	3	MRPS34 CL E G H	65993	16618	OMIM:617664	Combined oxidative phosphorylation deficiency 32			1
HP:0002795	HP:0002098	Respiratory distress	3	MTM1 CL E G H	4534	7448	ORPHA:596	X-linked centronuclear myopathy			185
HP:0002795	HP:0012768	Neonatal asphyxia	3	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040283 - Occasional		7
HP:0002795	HP:0002875	Exertional dyspnea	3	MUC5B CL E G H	727897	7516	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent		133
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	MUC5B CL E G H	727897	7516	OMIM:178500	Pulmonary fibrosis, idiopathic			133
HP:0002795	HP:0002875	Exertional dyspnea	3	MUC5B CL E G H	727897	7516	OMIM:178500	Pulmonary fibrosis, idiopathic	.		133
HP:0002795	HP:0045051	Decreased DLCO	3	MUC5B CL E G H	727897	7516	OMIM:178500	Pulmonary fibrosis, idiopathic			133
HP:0002795	HP:0002875	Exertional dyspnea	3	MUSK CL E G H	4593	7525	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		72
HP:0002795	HP:0012764	Orthopnea	3	MUSK CL E G H	4593	7525	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		72
HP:0002795	HP:0002098	Respiratory distress	3	MYBPC3 CL E G H	4607	7551	OMIM:115197	Cardiomyopathy, familial hypertrophic, 4			1143
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	MYBPC3 CL E G H	4607	7551	OMIM:615396	Left ventricular noncompaction 10			1143
HP:0002795	HP:0012768	Neonatal asphyxia	3	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040283 - Occasional		19
HP:0002795	HP:0002875	Exertional dyspnea	3	MYH11 CL E G H	4629	7569	ORPHA:229	Familial aortic dissection	HP:0040282 - Frequent		418
HP:0002795	HP:0012763	Paroxysmal dyspnea	3	MYH11 CL E G H	4629	7569	ORPHA:229	Familial aortic dissection	HP:0040282 - Frequent		418
HP:0002795	HP:0002875	Exertional dyspnea	3	MYH11 CL E G H	4629	7569	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent		418
HP:0002795	HP:0012763	Paroxysmal dyspnea	3	MYH11 CL E G H	4629	7569	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent		418
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	MYH6 CL E G H	4624	7576	ORPHA:99103	Atrial septal defect, ostium secundum type			452
HP:0002795	HP:0002875	Exertional dyspnea	3	MYH6 CL E G H	4624	7576	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040282 - Frequent		452
HP:0002795	HP:0012764	Orthopnea	3	MYH6 CL E G H	4624	7576	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional		452
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	MYH7 CL E G H	4625	7577	OMIM:613426	Cardiomyopathy, dilated, 1S			1269
HP:0002795	HP:0002877	Nocturnal hypoventilation	3	MYH7 CL E G H	4625	7577	ORPHA:324604	Classic multiminicore myopathy	HP:0040282 - Frequent		1269
HP:0002795	HP:0004889	Intermittent episodes of respiratory insufficiency due to muscle weakness	3	MYH7 CL E G H	4625	7577	ORPHA:324604	Classic multiminicore myopathy	HP:0040282 - Frequent		1269
HP:0002795	HP:0002875	Exertional dyspnea	3	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive			1269
HP:0002795	HP:0012416	Hypercapnia	3	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		131
HP:0002795	HP:0012418	Hypoxemia	3	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		131
HP:0002795	HP:0006543	Cardiorespiratory arrest	3	MYL2 CL E G H	4633	7583	OMIM:619424	MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12			131
HP:0002795	HP:0002875	Exertional dyspnea	3	MYL3 CL E G H	4634	7584	OMIM:608751	Cardiomyopathy, familial hypertrophic, 8	.		95
HP:0002795	HP:0002875	Exertional dyspnea	3	MYLK CL E G H	4638	7590	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent		326
HP:0002795	HP:0012763	Paroxysmal dyspnea	3	MYLK CL E G H	4638	7590	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent		326
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome			5
HP:0002795	HP:0002098	Respiratory distress	3	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes
HP:0002795	HP:0002872	Apneic episodes precipitated by illness, fatigue, stress	3	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent
HP:0002795	HP:0002882	Sudden episodic apnea	3	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent
HP:0002795	HP:0004889	Intermittent episodes of respiratory insufficiency due to muscle weakness	3	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent
HP:0002795	HP:0010535	Sleep apnea	3	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes
HP:0002795	HP:0012764	Orthopnea	3	MYOZ2 CL E G H	51778	1330	OMIM:613838	Cardiomyopathy, familial hypertrophic, 16			81
HP:0002795	HP:0007110	Central hypoventilation	3	MYPN CL E G H	84665	23246	ORPHA:171881	Cap myopathy	HP:0040283 - Occasional		217
HP:0002795	HP:0012764	Orthopnea	3	MYPN CL E G H	84665	23246	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040283 - Occasional		217
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0002795	HP:0002875	Exertional dyspnea	3	NABP1 CL E G H	64859	26232	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent
HP:0002795	HP:0010535	Sleep apnea	3	NACC1 CL E G H	112939	20967	OMIM:617393	Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination			1
HP:0002795	HP:0005949	Apneic episodes in infancy	3	NACC1 CL E G H	112939	20967	ORPHA:500545	Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract	HP:0040283 - Occasional		1
HP:0002795	HP:0010535	Sleep apnea	3	NADK2 CL E G H	133686	26404	ORPHA:431361	Progressive encephalopathy with leukodystrophy due to DECR deficiency			14
HP:0002795	HP:0002098	Respiratory distress	3	NAGS CL E G H	162417	17996	ORPHA:927	Hyperammonemia due to N-acetylglutamate synthase deficiency	HP:0040284 - Very rare		36
HP:0002795	HP:0002098	Respiratory distress	3	NAGS CL E G H	162417	17996	OMIM:237310	N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY	.		36
HP:0002795	HP:0010535	Sleep apnea	3	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome			48
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	ND1 CL E G H	4535	7455	ORPHA:550	MELAS
HP:0002795	HP:0002098	Respiratory distress	3	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002795	HP:0002098	Respiratory distress	3	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002795	HP:0002098	Respiratory distress	3	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	ND4 CL E G H	4538	7459	ORPHA:550	MELAS
HP:0002795	HP:0002098	Respiratory distress	3	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	ND5 CL E G H	4540	7461	ORPHA:550	MELAS
HP:0002795	HP:0002098	Respiratory distress	3	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	ND6 CL E G H	4541	7462	ORPHA:550	MELAS
HP:0002795	HP:0002098	Respiratory distress	3	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002795	HP:0002098	Respiratory distress	3	NDE1 CL E G H	54820	17619	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040283 - Occasional		96
HP:0002795	HP:0002871	Central apnea	3	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040283 - Occasional
HP:0002795	HP:0010535	Sleep apnea	3	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
HP:0002795	HP:0002871	Central apnea	3	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040283 - Occasional
HP:0002795	HP:0010535	Sleep apnea	3	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
HP:0002795	HP:0002871	Central apnea	3	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040283 - Occasional
HP:0002795	HP:0010535	Sleep apnea	3	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	NDUFA8 CL E G H	4702	7692	OMIM:619272	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0002795	HP:0002098	Respiratory distress	3	NDUFA8 CL E G H	4702	7692	OMIM:619272	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0002795	HP:0007110	Central hypoventilation	3	NDUFAF2 CL E G H	91942	28086	OMIM:618233	Mitochondrial complex I deficiency, nuclear type 10	.		26
HP:0002795	HP:0002098	Respiratory distress	3	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		31
HP:0002795	HP:0007110	Central hypoventilation	3	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		31
HP:0002795	HP:0045051	Decreased DLCO	3	NDUFAF6 CL E G H	137682	28625	OMIM:618913	FANCONI RENOTUBULAR SYNDROME 5; FRTS5			39
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	NDUFB10 CL E G H	4716	7696	OMIM:619003	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35
HP:0002795	HP:0002098	Respiratory distress	3	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional		3
HP:0002795	HP:0002098	Respiratory distress	3	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent
HP:0002795	HP:0007110	Central hypoventilation	3	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent
HP:0002795	HP:0002098	Respiratory distress	3	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		65
HP:0002795	HP:0007110	Central hypoventilation	3	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		65
HP:0002795	HP:0005949	Apneic episodes in infancy	3	NDUFS8 CL E G H	4728	7715	OMIM:618222	Mitochondrial complex I deficiency, nuclear type 2			42
HP:0002795	HP:0012416	Hypercapnia	3	NDUFS8 CL E G H	4728	7715	OMIM:618222	Mitochondrial complex I deficiency, nuclear type 2			42
HP:0002795	HP:0002875	Exertional dyspnea	3	NEB CL E G H	4703	7720	ORPHA:399103	Distal nebulin myopathy	HP:0040283 - Occasional		745
HP:0002795	HP:0002877	Nocturnal hypoventilation	3	NEB CL E G H	4703	7720	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		745
HP:0002795	HP:0010535	Sleep apnea	3	NEFH CL E G H	4744	7737	OMIM:105400	Amyotrophic lateral sclerosis 1	.		24
HP:0002795	HP:0002098	Respiratory distress	3	NEMF CL E G H	9147	10663	OMIM:619099	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND AXONAL PERIPHERAL NEUROPATHY; IDDSAPN			1
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome			1952
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome			40
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0002795	HP:0010535	Sleep apnea	3	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	NFU1 CL E G H	27247	16287	OMIM:605711	Multiple mitochondrial dysfunctions syndrome 1			34
HP:0002795	HP:0010535	Sleep apnea	3	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome			32
HP:0002795	HP:0002098	Respiratory distress	3	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation			32
HP:0002795	HP:0010535	Sleep apnea	3	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation			32
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome			51
HP:0002795	HP:0002098	Respiratory distress	3	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome	HP:0040282 - Frequent		51
HP:0002795	HP:0002098	Respiratory distress	3	NKX2-1 CL E G H	7080	11825	OMIM:610978	Choreoathetosis, hypothyroidism, and neonatal respiratory distress	.	HP:0003623 - Neonatal onset	51
HP:0002795	HP:0012418	Hypoxemia	3	NKX2-1 CL E G H	7080	11825	OMIM:610978	Choreoathetosis, hypothyroidism, and neonatal respiratory distress			51
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	NKX2-5 CL E G H	1482	2488	ORPHA:99103	Atrial septal defect, ostium secundum type			90
HP:0002795	HP:0002875	Exertional dyspnea	3	NKX2-5 CL E G H	1482	2488	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040282 - Frequent		90
HP:0002795	HP:0012764	Orthopnea	3	NKX2-5 CL E G H	1482	2488	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional		90
HP:0002795	HP:0012265	Ciliary dyskinesia	3	NME8 CL E G H	51314	16473	OMIM:610852	Ciliary dyskinesia, primary, 6	.		50
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome			187
HP:0002795	HP:0002871	Central apnea	3	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		45
HP:0002795	HP:0002871	Central apnea	3	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		45
HP:0002795	HP:0002871	Central apnea	3	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		45
HP:0002795	HP:0002871	Central apnea	3	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		45
HP:0002795	HP:0010535	Sleep apnea	3	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome			10
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome			452
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5			452
HP:0002795	HP:0010535	Sleep apnea	3	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0002795	HP:0002875	Exertional dyspnea	3	NPM1 CL E G H	4869	7910	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent		12
HP:0002795	HP:0002876	Episodic tachypnea	3	NTNG1 CL E G H	22854	23319	ORPHA:3095	Atypical Rett syndrome	HP:0040282 - Frequent		1
HP:0002795	HP:0002882	Sudden episodic apnea	3	NTNG1 CL E G H	22854	23319	ORPHA:3095	Atypical Rett syndrome	HP:0040282 - Frequent		1
HP:0002795	HP:0002875	Exertional dyspnea	3	NUMA1 CL E G H	4926	8059	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent
HP:0002795	HP:0002098	Respiratory distress	3	NUP214 CL E G H	8021	8064	OMIM:618426	Encephalopathy, acute, infection-induced, susceptibility to, 9	.		1
HP:0002795	HP:0002871	Central apnea	3	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040283 - Occasional		121
HP:0002795	HP:0010535	Sleep apnea	3	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			121
HP:0002795	HP:0002871	Central apnea	3	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040283 - Occasional		121
HP:0002795	HP:0010535	Sleep apnea	3	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			121
HP:0002795	HP:0002871	Central apnea	3	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040283 - Occasional		121
HP:0002795	HP:0010535	Sleep apnea	3	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			121
HP:0002795	HP:0012265	Ciliary dyskinesia	3	ODAD1 CL E G H	93233	26560	OMIM:615067	Ciliary dyskinesia, primary, 20	.
HP:0002795	HP:0012265	Ciliary dyskinesia	3	ODAD2 CL E G H	55130	25583	OMIM:615451	CILIARY DYSKINESIA, PRIMARY, 23; CILD23
HP:0002795	HP:0012265	Ciliary dyskinesia	3	ODAD3 CL E G H	115948	28303	OMIM:616037	Ciliary dyskinesia, primary, 30	.
HP:0002795	HP:0002876	Episodic tachypnea	3	OFD1 CL E G H	8481	2567	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional		201
HP:0002795	HP:0002098	Respiratory distress	3	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent		53
HP:0002795	HP:0002098	Respiratory distress	3	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1	.		53
HP:0002795	HP:0002098	Respiratory distress	3	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent		21
HP:0002795	HP:0002098	Respiratory distress	3	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent		39
HP:0002795	HP:0002098	Respiratory distress	3	OTX2 CL E G H	5015	8522	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome	HP:0040281 - Very frequent		41
HP:0002795	HP:0010535	Sleep apnea	3	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities	.
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	PAM16 CL E G H	51025	29679	OMIM:613320	Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type			1
HP:0002795	HP:0002875	Exertional dyspnea	3	PARN CL E G H	5073	8609	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent		26
HP:0002795	HP:0045051	Decreased DLCO	3	PARN CL E G H	5073	8609	OMIM:616371	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4; PFBMFT4			26
HP:0002795	HP:0010535	Sleep apnea	3	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome
HP:0002795	HP:0002876	Episodic tachypnea	3	PDE6D CL E G H	5147	8788	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional		1
HP:0002795	HP:0002872	Apneic episodes precipitated by illness, fatigue, stress	3	PDHA1 CL E G H	5160	8806	OMIM:312170	Pyruvate dehydrogenase e1-alpha deficiency	.		88
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	PDSS1 CL E G H	23590	17759	OMIM:614651	Coenzyme Q10 deficiency, primary, 2			40
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It			58
HP:0002795	HP:0002877	Nocturnal hypoventilation	3	PHOX2B CL E G H	8929	9143	OMIM:209880	Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease			86
HP:0002795	HP:0007110	Central hypoventilation	3	PHOX2B CL E G H	8929	9143	OMIM:209880	Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease			86
HP:0002795	HP:0012416	Hypercapnia	3	PHOX2B CL E G H	8929	9143	OMIM:209880	Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease	.		86
HP:0002795	HP:0012418	Hypoxemia	3	PHOX2B CL E G H	8929	9143	OMIM:209880	Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease	.		86
HP:0002795	HP:0007110	Central hypoventilation	3	PHOX2B CL E G H	8929	9143	ORPHA:99803	Haddad syndrome	HP:0040281 - Very frequent		86
HP:0002795	HP:0010535	Sleep apnea	3	PHOX2B CL E G H	8929	9143	ORPHA:99803	Haddad syndrome			86
HP:0002795	HP:0002876	Episodic tachypnea	3	PIBF1 CL E G H	10464	23352	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		4
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome			37
HP:0002795	HP:0010535	Sleep apnea	3	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome			12
HP:0002795	HP:0005949	Apneic episodes in infancy	3	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy	HP:0040284 - Very rare		133
HP:0002795	HP:0002098	Respiratory distress	3	PLCB4 CL E G H	5332	9059	ORPHA:137888	Auriculocondylar syndrome	HP:0040282 - Frequent		82
HP:0002795	HP:0010535	Sleep apnea	3	PLCB4 CL E G H	5332	9059	ORPHA:137888	Auriculocondylar syndrome			82
HP:0002795	HP:0002871	Central apnea	3	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent
HP:0002795	HP:0002875	Exertional dyspnea	3	PLEC CL E G H	5339	9069	ORPHA:254361	Plectin-related limb-girdle muscular dystrophy R17	HP:0040284 - Very rare		759
HP:0002795	HP:0005348	Inspiratory stridor	3	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease			60
HP:0002795	HP:0012768	Neonatal asphyxia	3	PLPBP CL E G H	11212	9457	ORPHA:3006	Pyridoxine-dependent epilepsy	HP:0040283 - Occasional		6
HP:0002795	HP:0002875	Exertional dyspnea	3	PML CL E G H	5371	9113	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent		3
HP:0002795	HP:0002098	Respiratory distress	3	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040283 - Occasional		150
HP:0002795	HP:0010535	Sleep apnea	3	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome			35
HP:0002795	HP:0010535	Sleep apnea	3	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome			35
HP:0002795	HP:0002875	Exertional dyspnea	3	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		464
HP:0002795	HP:0002875	Exertional dyspnea	3	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		45
HP:0002795	HP:0002098	Respiratory distress	3	POMT1 CL E G H	10585	9202	ORPHA:86812	POMT1-related limb-girdle muscular dystrophy R11	HP:0040283 - Occasional		213
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	PPCS CL E G H	79717	25686	OMIM:618189	Cardiomyopathy, dilated, 2C
HP:0002795	HP:0002098	Respiratory distress	3	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0002795	HP:0033677	Acute respiratory distress syndrome	3	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0002795	HP:0002875	Exertional dyspnea	3	PRKAR1A CL E G H	5573	9388	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent		134
HP:0002795	HP:0002875	Exertional dyspnea	3	PRKAR1A CL E G H	5573	9388	ORPHA:615	Familial atrial myxoma	HP:0040282 - Frequent		134
HP:0002795	HP:0010535	Sleep apnea	3	PRKAR1B CL E G H	5575	9390	OMIM:619680	MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS			2
HP:0002795	HP:0002875	Exertional dyspnea	3	PRKG1 CL E G H	5592	9414	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent		41
HP:0002795	HP:0012763	Paroxysmal dyspnea	3	PRKG1 CL E G H	5592	9414	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent		41
HP:0002795	HP:0010535	Sleep apnea	3	PRMT7 CL E G H	54496	25557	ORPHA:464288	Short stature-brachydactyly-obesity-global developmental delay syndrome	HP:0040283 - Occasional		6
HP:0002795	HP:0010535	Sleep apnea	3	PRPH CL E G H	5630	9461	OMIM:105400	Amyotrophic lateral sclerosis 1	.		25
HP:0002795	HP:0010535	Sleep apnea	3	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome			49
HP:0002795	HP:0010535	Sleep apnea	3	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0002795	HP:0002098	Respiratory distress	3	PRRX1 CL E G H	5396	9142	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome	HP:0040281 - Very frequent		4
HP:0002795	HP:0002098	Respiratory distress	3	PRRX1 CL E G H	5396	9142	OMIM:202650	Agnathia-Otocephaly complex	.		4
HP:0002795	HP:0002098	Respiratory distress	3	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease	HP:0040283 - Occasional		81
HP:0002795	HP:0002871	Central apnea	3	PSAP CL E G H	5660	9498	OMIM:611722	KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY			81
HP:0002795	HP:0002871	Central apnea	3	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		665
HP:0002795	HP:0002871	Central apnea	3	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		665
HP:0002795	HP:0002871	Central apnea	3	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		665
HP:0002795	HP:0002871	Central apnea	3	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		665
HP:0002795	HP:0012418	Hypoxemia	3	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease	HP:0040283 - Occasional		6
HP:0002795	HP:0002098	Respiratory distress	3	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040283 - Occasional		19
HP:0002795	HP:0002098	Respiratory distress	3	PURA CL E G H	5813	9701	ORPHA:438216	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation	HP:0040281 - Very frequent		53
HP:0002795	HP:0002098	Respiratory distress	3	PURA CL E G H	5813	9701	ORPHA:314655	Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion	HP:0040282 - Frequent		53
HP:0002795	HP:0010535	Sleep apnea	3	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0002795	HP:0010535	Sleep apnea	3	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0002795	HP:0002875	Exertional dyspnea	3	PYGM CL E G H	5837	9726	ORPHA:368	Glycogen storage disease due to muscle glycogen phosphorylase deficiency	HP:0040283 - Occasional		166
HP:0002795	HP:0010535	Sleep apnea	3	RAI1 CL E G H	10743	9834	ORPHA:1713	17p11.2 microduplication syndrome	HP:0040281 - Very frequent		150
HP:0002795	HP:0002875	Exertional dyspnea	3	RAPSN CL E G H	5913	9863	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		73
HP:0002795	HP:0012764	Orthopnea	3	RAPSN CL E G H	5913	9863	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		73
HP:0002795	HP:0002875	Exertional dyspnea	3	RARA CL E G H	5914	9864	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent		2
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome			3
HP:0002795	HP:0002098	Respiratory distress	3	REEP1 CL E G H	65055	25786	OMIM:620011				87
HP:0002795	HP:0002098	Respiratory distress	3	RELN CL E G H	5649	9957	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040283 - Occasional		334
HP:0002795	HP:0010535	Sleep apnea	3	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart			16
HP:0002795	HP:0007110	Central hypoventilation	3	RET CL E G H	5979	9967	ORPHA:99803	Haddad syndrome	HP:0040281 - Very frequent		572
HP:0002795	HP:0010535	Sleep apnea	3	RET CL E G H	5979	9967	ORPHA:99803	Haddad syndrome			572
HP:0002795	HP:0012418	Hypoxemia	3	RHAG CL E G H	6005	10006	ORPHA:71275	Rh deficiency syndrome	HP:0040283 - Occasional		13
HP:0002795	HP:0012418	Hypoxemia	3	RHCE CL E G H	6006	10008	ORPHA:71275	Rh deficiency syndrome	HP:0040283 - Occasional		8
HP:0002795	HP:0012418	Hypoxemia	3	RHD CL E G H	6007	10009	ORPHA:71275	Rh deficiency syndrome	HP:0040283 - Occasional		16
HP:0002795	HP:0002098	Respiratory distress	3	RNF13 CL E G H	11342	10057	ORPHA:544503	RNF13-related severe early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0002795	HP:0012768	Neonatal asphyxia	3	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome	HP:0040283 - Occasional		7
HP:0002795	HP:0002871	Central apnea	3	RPGRIP1L CL E G H	23322	29168	OMIM:611560	Joubert syndrome 7	.		167
HP:0002795	HP:0002876	Episodic tachypnea	3	RPGRIP1L CL E G H	23322	29168	OMIM:611560	Joubert syndrome 7	.		167
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	RPL3L CL E G H	6123	10351	OMIM:619371	CARDIOMYOPATHY, DILATED, 2D; CMD2D
HP:0002795	HP:0002098	Respiratory distress	3	RPS26 CL E G H	6231	10414	OMIM:613309	Diamond-blackfan anemia 10	HP:0040283 - Occasional		20
HP:0002795	HP:0002098	Respiratory distress	3	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis	.		1
HP:0002795	HP:0010535	Sleep apnea	3	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome	HP:0040283 - Occasional		65
HP:0002795	HP:0002875	Exertional dyspnea	3	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		125
HP:0002795	HP:0002098	Respiratory distress	3	RRM2B CL E G H	50484	17296	OMIM:612075	Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)			125
HP:0002795	HP:0012265	Ciliary dyskinesia	3	RSPH1 CL E G H	89765	12371	OMIM:615481	Ciliary dyskinesia, primary, 24	.		31
HP:0002795	HP:0012263	Immotile cilia	3	RSPH3 CL E G H	83861	21054	OMIM:616481	Ciliary dyskinesia, primary, 32	.		5
HP:0002795	HP:0012265	Ciliary dyskinesia	3	RSPH3 CL E G H	83861	21054	OMIM:616481	Ciliary dyskinesia, primary, 32	.		5
HP:0002795	HP:0012263	Immotile cilia	3	RSPH4A CL E G H	345895	21558	OMIM:612649	Ciliary dyskinesia, primary, 11			58
HP:0002795	HP:0012265	Ciliary dyskinesia	3	RSPH4A CL E G H	345895	21558	OMIM:612649	Ciliary dyskinesia, primary, 11	.		58
HP:0002795	HP:0012265	Ciliary dyskinesia	3	RSPH9 CL E G H	221421	21057	OMIM:612650	CILIARY DYSKINESIA, PRIMARY, 12; CILD12			20
HP:0002795	HP:0002875	Exertional dyspnea	3	RTEL1 CL E G H	51750	15888	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent		77
HP:0002795	HP:0045051	Decreased DLCO	3	RTEL1 CL E G H	51750	15888	OMIM:616373	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3; PFBMFT3			77
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0002795	HP:0002098	Respiratory distress	3	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia	.		90
HP:0002795	HP:0010535	Sleep apnea	3	RUNX2 CL E G H	860	10472	ORPHA:1452	Cleidocranial dysplasia	HP:0040283 - Occasional		90
HP:0002795	HP:0012768	Neonatal asphyxia	3	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040283 - Occasional		1200
HP:0002795	HP:0012417	Hypocapnia	3	RYR1 CL E G H	6261	10483	ORPHA:466650	Exercise-induced malignant hyperthermia	HP:0040283 - Occasional		1200
HP:0002795	HP:0012416	Hypercapnia	3	RYR1 CL E G H	6261	10483	ORPHA:423	Malignant hyperthermia of anesthesia	HP:0040282 - Frequent		1200
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	SARS2 CL E G H	54938	17697	OMIM:613845	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome			60
HP:0002795	HP:0010535	Sleep apnea	3	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement			34
HP:0002795	HP:0002098	Respiratory distress	3	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1	.		26
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	SCARB2 CL E G H	950	1665	ORPHA:77259	Gaucher disease type 1			77
HP:0002795	HP:0005949	Apneic episodes in infancy	3	SCN4A CL E G H	6329	10591	OMIM:608390	Myotonia, potassium-aggravated	.		263
HP:0002795	HP:0004875	Neonatal inspiratory stridor	3	SCN4A CL E G H	6329	10591	ORPHA:684	Paramyotonia congenita of Von Eulenburg	HP:0040282 - Frequent		263
HP:0002795	HP:0005348	Inspiratory stridor	3	SCN4A CL E G H	6329	10591	OMIM:168300	Paramyotonia congenita of von eulenburg	.	HP:0003621 - Juvenile onset	263
HP:0002795	HP:0005348	Inspiratory stridor	3	SCN4A CL E G H	6329	10591	ORPHA:684	Paramyotonia congenita of Von Eulenburg			263
HP:0002795	HP:0002875	Exertional dyspnea	3	SCN4A CL E G H	6329	10591	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		263
HP:0002795	HP:0012764	Orthopnea	3	SCN4A CL E G H	6329	10591	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		263
HP:0002795	HP:0005949	Apneic episodes in infancy	3	SCN5A CL E G H	6331	10593	OMIM:272120	Sudden infant death syndrome	.		1134
HP:0002795	HP:0002098	Respiratory distress	3	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1	.		40
HP:0002795	HP:0005348	Inspiratory stridor	3	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1			40
HP:0002795	HP:0002098	Respiratory distress	3	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		40
HP:0002795	HP:0007110	Central hypoventilation	3	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		40
HP:0002795	HP:0002098	Respiratory distress	3	SCYL2 CL E G H	55681	19286	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040283 - Occasional
HP:0002795	HP:0002098	Respiratory distress	3	SDCCAG8 CL E G H	10806	10671	OMIM:615993	Bardet-Biedl syndrome 16	.		61
HP:0002795	HP:0002098	Respiratory distress	3	SDHA CL E G H	6389	10680	OMIM:613642	Cardiomyopathy, dilated, 1gg			304
HP:0002795	HP:0002877	Nocturnal hypoventilation	3	SELENON CL E G H	57190	15999	ORPHA:324604	Classic multiminicore myopathy	HP:0040282 - Frequent		144
HP:0002795	HP:0004889	Intermittent episodes of respiratory insufficiency due to muscle weakness	3	SELENON CL E G H	57190	15999	ORPHA:324604	Classic multiminicore myopathy	HP:0040282 - Frequent		144
HP:0002795	HP:0012416	Hypercapnia	3	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		144
HP:0002795	HP:0012418	Hypoxemia	3	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		144
HP:0002795	HP:0002877	Nocturnal hypoventilation	3	SELENON CL E G H	57190	15999	OMIM:602771	Rigid spine muscular dystrophy 1	.		144
HP:0002795	HP:0002098	Respiratory distress	3	SERPING1 CL E G H	710	1228	ORPHA:100050	Hereditary angioedema type 1	HP:0040283 - Occasional		64
HP:0002795	HP:0005348	Inspiratory stridor	3	SERPING1 CL E G H	710	1228	ORPHA:100050	Hereditary angioedema type 1	HP:0040283 - Occasional		64
HP:0002795	HP:0002098	Respiratory distress	3	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040283 - Occasional		143
HP:0002795	HP:0002875	Exertional dyspnea	3	SFTPA1 CL E G H	653509	10798	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent		19
HP:0002795	HP:0045051	Decreased DLCO	3	SFTPA1 CL E G H	653509	10798	OMIM:619611	INTERSTITIAL LUNG DISEASE 1; ILD1			19
HP:0002795	HP:0002875	Exertional dyspnea	3	SFTPA2 CL E G H	729238	10799	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent		10
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	SFTPA2 CL E G H	729238	10799	OMIM:178500	Pulmonary fibrosis, idiopathic			10
HP:0002795	HP:0002875	Exertional dyspnea	3	SFTPA2 CL E G H	729238	10799	OMIM:178500	Pulmonary fibrosis, idiopathic	.		10
HP:0002795	HP:0045051	Decreased DLCO	3	SFTPA2 CL E G H	729238	10799	OMIM:178500	Pulmonary fibrosis, idiopathic			10
HP:0002795	HP:0002098	Respiratory distress	3	SFTPB CL E G H	6439	10801	ORPHA:70587	Infant acute respiratory distress syndrome			51
HP:0002795	HP:0012418	Hypoxemia	3	SFTPB CL E G H	6439	10801	ORPHA:70587	Infant acute respiratory distress syndrome	HP:0040281 - Very frequent		51
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	SFTPB CL E G H	6439	10801	ORPHA:217563	Neonatal acute respiratory distress due to SP-B deficiency			51
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	SFTPB CL E G H	6439	10801	OMIM:265120	Surfactant metabolism dysfunction, pulmonary, 1			51
HP:0002795	HP:0002875	Exertional dyspnea	3	SFTPC CL E G H	6440	10802	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent		33
HP:0002795	HP:0002098	Respiratory distress	3	SFTPC CL E G H	6440	10802	ORPHA:70587	Infant acute respiratory distress syndrome			33
HP:0002795	HP:0012418	Hypoxemia	3	SFTPC CL E G H	6440	10802	ORPHA:70587	Infant acute respiratory distress syndrome	HP:0040281 - Very frequent		33
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	SFTPC CL E G H	6440	10802	OMIM:178500	Pulmonary fibrosis, idiopathic			33
HP:0002795	HP:0002875	Exertional dyspnea	3	SFTPC CL E G H	6440	10802	OMIM:178500	Pulmonary fibrosis, idiopathic	.		33
HP:0002795	HP:0045051	Decreased DLCO	3	SFTPC CL E G H	6440	10802	OMIM:178500	Pulmonary fibrosis, idiopathic			33
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	SFTPC CL E G H	6440	10802	OMIM:610913	Surfactant metabolism dysfunction, pulmonary, 2			33
HP:0002795	HP:0002098	Respiratory distress	3	SFTPC CL E G H	6440	10802	OMIM:610913	Surfactant metabolism dysfunction, pulmonary, 2			33
HP:0002795	HP:0045051	Decreased DLCO	3	SFTPC CL E G H	6440	10802	OMIM:610913	Surfactant metabolism dysfunction, pulmonary, 2			33
HP:0002795	HP:0012418	Hypoxemia	3	SFTPC CL E G H	6440	10802	OMIM:610913	Surfactant metabolism dysfunction, pulmonary, 2			33
HP:0002795	HP:0002875	Exertional dyspnea	3	SH2B3 CL E G H	10019	29605	OMIM:133100	Erythrocytosis, familial, 1	.		4
HP:0002795	HP:0010535	Sleep apnea	3	SH3BP2 CL E G H	6452	10825	ORPHA:184	Cherubism			177
HP:0002795	HP:0002871	Central apnea	3	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		67
HP:0002795	HP:0002871	Central apnea	3	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		67
HP:0002795	HP:0002871	Central apnea	3	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		67
HP:0002795	HP:0002871	Central apnea	3	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		67
HP:0002795	HP:0012768	Neonatal asphyxia	3	SHPK CL E G H	23729	1492	ORPHA:440713	Isolated sedoheptulokinase deficiency	HP:0040280 - Obligate		2
HP:0002795	HP:0002098	Respiratory distress	3	SIK1 CL E G H	150094	11142	OMIM:616341	Deafness, autosomal dominant 67			11
HP:0002795	HP:0010535	Sleep apnea	3	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome			40
HP:0002795	HP:0010535	Sleep apnea	3	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0002795	HP:0002871	Central apnea	3	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0002795	HP:0002871	Central apnea	3	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		32
HP:0002795	HP:0002871	Central apnea	3	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		32
HP:0002795	HP:0002871	Central apnea	3	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0002795	HP:0010535	Sleep apnea	3	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome			150
HP:0002795	HP:0002098	Respiratory distress	3	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare		145
HP:0002795	HP:0002098	Respiratory distress	3	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0002795	HP:0002872	Apneic episodes precipitated by illness, fatigue, stress	3	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		2
HP:0002795	HP:0002882	Sudden episodic apnea	3	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent		2
HP:0002795	HP:0004889	Intermittent episodes of respiratory insufficiency due to muscle weakness	3	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent		2
HP:0002795	HP:0010535	Sleep apnea	3	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0002795	HP:0002098	Respiratory distress	3	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional		63
HP:0002795	HP:0002098	Respiratory distress	3	SLC22A5 CL E G H	6584	10969	OMIM:212140	Carnitine deficiency, systemic primary			207
HP:0002795	HP:0002098	Respiratory distress	3	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes			28
HP:0002795	HP:0002872	Apneic episodes precipitated by illness, fatigue, stress	3	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		28
HP:0002795	HP:0002882	Sudden episodic apnea	3	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent		28
HP:0002795	HP:0004889	Intermittent episodes of respiratory insufficiency due to muscle weakness	3	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent		28
HP:0002795	HP:0010535	Sleep apnea	3	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes			28
HP:0002795	HP:0002882	Sudden episodic apnea	3	SLC25A20 CL E G H	788	1421	ORPHA:159	Carnitine-acylcarnitine translocase deficiency	HP:0040283 - Occasional		40
HP:0002795	HP:0006543	Cardiorespiratory arrest	3	SLC25A20 CL E G H	788	1421	OMIM:212138	Carnitine-acylcarnitine translocase deficiency	.		40
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0002795	HP:0002098	Respiratory distress	3	SLC25A3 CL E G H	5250	10989	ORPHA:91130	Cardiomyopathy-hypotonia-lactic acidosis syndrome	HP:0040283 - Occasional		35
HP:0002795	HP:0002875	Exertional dyspnea	3	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		68
HP:0002795	HP:0005348	Inspiratory stridor	3	SLC25A46 CL E G H	91137	25198	ORPHA:2254	Pontocerebellar hypoplasia type 1			14
HP:0002795	HP:0012768	Neonatal asphyxia	3	SLC27A4 CL E G H	10999	10998	OMIM:608649	ICHTHYOSIS PREMATURITY SYNDROME; IPS			26
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome			68
HP:0002795	HP:0002871	Central apnea	3	SLC2A1 CL E G H	6513	11005	ORPHA:71277	Classic glucose transporter type 1 deficiency syndrome	HP:0040283 - Occasional		255
HP:0002795	HP:0002098	Respiratory distress	3	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome	HP:0040283 - Occasional		178
HP:0002795	HP:0006543	Cardiorespiratory arrest	3	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome	HP:0040283 - Occasional		178
HP:0002795	HP:0002875	Exertional dyspnea	3	SLC34A2 CL E G H	10568	11020	ORPHA:60025	Pulmonary alveolar microlithiasis	HP:0040283 - Occasional		7
HP:0002795	HP:0012418	Hypoxemia	3	SLC34A2 CL E G H	10568	11020	ORPHA:60025	Pulmonary alveolar microlithiasis	HP:0040283 - Occasional		7
HP:0002795	HP:0002098	Respiratory distress	3	SLC35A1 CL E G H	10559	11021	ORPHA:238459	SLC35A1-CDG	HP:0040281 - Very frequent		24
HP:0002795	HP:0012418	Hypoxemia	3	SLC35A1 CL E G H	10559	11021	ORPHA:238459	SLC35A1-CDG	HP:0040281 - Very frequent		24
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic			110
HP:0002795	HP:0002882	Sudden episodic apnea	3	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG	HP:0040283 - Occasional		11
HP:0002795	HP:0002098	Respiratory distress	3	SLC52A3 CL E G H	113278	16187	OMIM:211530	Brown-Vialetto-Van laere syndrome 1	.		51
HP:0002795	HP:0002877	Nocturnal hypoventilation	3	SLC52A3 CL E G H	113278	16187	OMIM:211530	Brown-Vialetto-Van laere syndrome 1	.		51
HP:0002795	HP:0005348	Inspiratory stridor	3	SLC52A3 CL E G H	113278	16187	OMIM:211500	Bulbar palsy, progressive, of childhood			51
HP:0002795	HP:0002098	Respiratory distress	3	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes			9
HP:0002795	HP:0002872	Apneic episodes precipitated by illness, fatigue, stress	3	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		9
HP:0002795	HP:0002882	Sudden episodic apnea	3	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent		9
HP:0002795	HP:0004889	Intermittent episodes of respiratory insufficiency due to muscle weakness	3	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent		9
HP:0002795	HP:0010535	Sleep apnea	3	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes			9
HP:0002795	HP:0002875	Exertional dyspnea	3	SMAD2 CL E G H	4087	6768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent		7
HP:0002795	HP:0012763	Paroxysmal dyspnea	3	SMAD2 CL E G H	4087	6768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent		7
HP:0002795	HP:0002875	Exertional dyspnea	3	SMAD3 CL E G H	4088	6769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent		260
HP:0002795	HP:0012763	Paroxysmal dyspnea	3	SMAD3 CL E G H	4088	6769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent		260
HP:0002795	HP:0002875	Exertional dyspnea	3	SMAD4 CL E G H	4089	6770	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent		504
HP:0002795	HP:0012763	Paroxysmal dyspnea	3	SMAD4 CL E G H	4089	6770	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent		504
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	SMAD4 CL E G H	4089	6770	ORPHA:774	Hereditary hemorrhagic telangiectasia			504
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	SMAD9 CL E G H	4093	6774	OMIM:615342	Pulmonary hypertension, primary, 2			132
HP:0002795	HP:0012768	Neonatal asphyxia	3	SMARCA2 CL E G H	6595	11098	ORPHA:2728	Blepharophimosis-intellectual disability syndrome, Ohdo type	HP:0040282 - Frequent		146
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type			74
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia			74
HP:0002795	HP:0002876	Episodic tachypnea	3	SMC1A CL E G H	8243	11111	ORPHA:3095	Atypical Rett syndrome	HP:0040282 - Frequent		135
HP:0002795	HP:0002882	Sudden episodic apnea	3	SMC1A CL E G H	8243	11111	ORPHA:3095	Atypical Rett syndrome	HP:0040282 - Frequent		135
HP:0002795	HP:0002871	Central apnea	3	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		135
HP:0002795	HP:0045051	Decreased DLCO	3	SMPD1 CL E G H	6609	11120	OMIM:607616	Niemann-pick disease, type B			164
HP:0002795	HP:0002098	Respiratory distress	3	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0002795	HP:0002872	Apneic episodes precipitated by illness, fatigue, stress	3	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		2
HP:0002795	HP:0002882	Sudden episodic apnea	3	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent		2
HP:0002795	HP:0004889	Intermittent episodes of respiratory insufficiency due to muscle weakness	3	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent		2
HP:0002795	HP:0010535	Sleep apnea	3	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0002795	HP:0010535	Sleep apnea	3	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0002795	HP:0010535	Sleep apnea	3	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0002795	HP:0002871	Central apnea	3	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040283 - Occasional		37
HP:0002795	HP:0010535	Sleep apnea	3	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			37
HP:0002795	HP:0002871	Central apnea	3	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040283 - Occasional		37
HP:0002795	HP:0010535	Sleep apnea	3	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			37
HP:0002795	HP:0002871	Central apnea	3	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040283 - Occasional		37
HP:0002795	HP:0010535	Sleep apnea	3	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			37
HP:0002795	HP:0002098	Respiratory distress	3	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation	HP:0040282 - Frequent		37
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	SNX10 CL E G H	29887	14974	ORPHA:667	Autosomal recessive malignant osteopetrosis			2
HP:0002795	HP:0010535	Sleep apnea	3	SOD1 CL E G H	6647	11179	OMIM:105400	Amyotrophic lateral sclerosis 1	.		53
HP:0002795	HP:0002098	Respiratory distress	3	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia	.		109
HP:0002795	HP:0012265	Ciliary dyskinesia	3	SPAG1 CL E G H	6674	11212	OMIM:615505	Ciliary dyskinesia, primary, 28	.		45
HP:0002795	HP:0010535	Sleep apnea	3	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2			16
HP:0002795	HP:0002098	Respiratory distress	3	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1	.
HP:0002795	HP:0010535	Sleep apnea	3	SRPX2 CL E G H	27286	30668	ORPHA:1945	Rolandic epilepsy	HP:0040282 - Frequent		50
HP:0002795	HP:0002098	Respiratory distress	3	SSR4 CL E G H	6748	11326	OMIM:300934	Congenital disorder of glycosylation, type Iy	.		12
HP:0002795	HP:0002871	Central apnea	3	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0002795	HP:0002871	Central apnea	3	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome			89
HP:0002795	HP:0002875	Exertional dyspnea	3	STAT3 CL E G H	6774	11364	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent		110
HP:0002795	HP:0002875	Exertional dyspnea	3	STAT5B CL E G H	6777	11367	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent		12
HP:0002795	HP:0002098	Respiratory distress	3	STAT5B CL E G H	6777	11367	OMIM:245590	GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY			12
HP:0002795	HP:0002871	Central apnea	3	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		99
HP:0002795	HP:0002871	Central apnea	3	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		99
HP:0002795	HP:0002871	Central apnea	3	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		99
HP:0002795	HP:0002871	Central apnea	3	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		99
HP:0002795	HP:0012265	Ciliary dyskinesia	3	STK36 CL E G H	27148	17209	OMIM:619436	CILIARY DYSKINESIA, PRIMARY, 46; CILD46			3
HP:0002795	HP:0002875	Exertional dyspnea	3	STN1 CL E G H	79991	26200	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent		2
HP:0002795	HP:0002098	Respiratory distress	3	STT3B CL E G H	201595	30611	OMIM:615597	Congenital disorder of glycosylation, type Ix	.		18
HP:0002795	HP:0002098	Respiratory distress	3	STT3B CL E G H	201595	30611	ORPHA:370924	STT3B-CDG	HP:0040282 - Frequent		18
HP:0002795	HP:0002098	Respiratory distress	3	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria	HP:0040283 - Occasional		60
HP:0002795	HP:0002876	Episodic tachypnea	3	SUFU CL E G H	51684	16466	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		124
HP:0002795	HP:0002098	Respiratory distress	3	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		73
HP:0002795	HP:0007110	Central hypoventilation	3	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		73
HP:0002795	HP:0002098	Respiratory distress	3	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency	.		73
HP:0002795	HP:0002875	Exertional dyspnea	3	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency	.		73
HP:0002795	HP:0010535	Sleep apnea	3	SYT1 CL E G H	6857	11509	OMIM:618218	Baker-Gordon syndrome	.		1
HP:0002795	HP:0002871	Central apnea	3	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome	HP:0040283 - Occasional		1
HP:0002795	HP:0010535	Sleep apnea	3	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome	HP:0040283 - Occasional		1
HP:0002795	HP:0002098	Respiratory distress	3	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes			4
HP:0002795	HP:0002872	Apneic episodes precipitated by illness, fatigue, stress	3	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		4
HP:0002795	HP:0002882	Sudden episodic apnea	3	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent		4
HP:0002795	HP:0004889	Intermittent episodes of respiratory insufficiency due to muscle weakness	3	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent		4
HP:0002795	HP:0010535	Sleep apnea	3	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes			4
HP:0002795	HP:0002098	Respiratory distress	3	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome	HP:0040283 - Occasional		271
HP:0002795	HP:0002875	Exertional dyspnea	3	TBL1XR1 CL E G H	79718	29529	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent		22
HP:0002795	HP:0002871	Central apnea	3	TBR1 CL E G H	10716	11590	ORPHA:1617	2q24 microdeletion syndrome	HP:0040283 - Occasional		1
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	TBX20 CL E G H	57057	11598	ORPHA:99103	Atrial septal defect, ostium secundum type			20
HP:0002795	HP:0002875	Exertional dyspnea	3	TBX20 CL E G H	57057	11598	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040282 - Frequent		20
HP:0002795	HP:0012764	Orthopnea	3	TBX20 CL E G H	57057	11598	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional		20
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome			55
HP:0002795	HP:0004879	Intermittent hyperventilation	3	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome	.		241
HP:0002795	HP:0010535	Sleep apnea	3	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome	HP:0040282 - Frequent		241
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	TCIRG1 CL E G H	10312	11647	ORPHA:667	Autosomal recessive malignant osteopetrosis			82
HP:0002795	HP:0002876	Episodic tachypnea	3	TCTN1 CL E G H	79600	26113	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		45
HP:0002795	HP:0002876	Episodic tachypnea	3	TCTN2 CL E G H	79867	25774	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		76
HP:0002795	HP:0002876	Episodic tachypnea	3	TCTN3 CL E G H	26123	24519	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional		31
HP:0002795	HP:0002871	Central apnea	3	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0002795	HP:0002871	Central apnea	3	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		1
HP:0002795	HP:0002871	Central apnea	3	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		1
HP:0002795	HP:0002871	Central apnea	3	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0002795	HP:0002871	Central apnea	3	TECPR2 CL E G H	9895	19957	ORPHA:320385	Hereditary sensory and autonomic neuropathy due to TECPR2 mutation	HP:0040283 - Occasional		39
HP:0002795	HP:0002871	Central apnea	3	TECPR2 CL E G H	9895	19957	OMIM:615031	Spastic paraplegia 49, autosomal recessive	.		39
HP:0002795	HP:0002875	Exertional dyspnea	3	TERC CL E G H	7012	11727	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent		48
HP:0002795	HP:0002875	Exertional dyspnea	3	TERT CL E G H	7015	11730	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent		238
HP:0002795	HP:0010535	Sleep apnea	3	TERT CL E G H	7015	11730	OMIM:614742	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1			238
HP:0002795	HP:0045051	Decreased DLCO	3	TERT CL E G H	7015	11730	OMIM:614742	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1			238
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	TERT CL E G H	7015	11730	OMIM:178500	Pulmonary fibrosis, idiopathic			238
HP:0002795	HP:0002875	Exertional dyspnea	3	TERT CL E G H	7015	11730	OMIM:178500	Pulmonary fibrosis, idiopathic	.		238
HP:0002795	HP:0045051	Decreased DLCO	3	TERT CL E G H	7015	11730	OMIM:178500	Pulmonary fibrosis, idiopathic			238
HP:0002795	HP:0002875	Exertional dyspnea	3	TGFB2 CL E G H	7042	11768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent		162
HP:0002795	HP:0012763	Paroxysmal dyspnea	3	TGFB2 CL E G H	7042	11768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent		162
HP:0002795	HP:0002875	Exertional dyspnea	3	TGFB3 CL E G H	7043	11769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent		85
HP:0002795	HP:0012763	Paroxysmal dyspnea	3	TGFB3 CL E G H	7043	11769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent		85
HP:0002795	HP:0002875	Exertional dyspnea	3	TGFBR1 CL E G H	7046	11772	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent		239
HP:0002795	HP:0012763	Paroxysmal dyspnea	3	TGFBR1 CL E G H	7046	11772	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent		239
HP:0002795	HP:0002875	Exertional dyspnea	3	TGFBR2 CL E G H	7048	11773	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent		253
HP:0002795	HP:0012763	Paroxysmal dyspnea	3	TGFBR2 CL E G H	7048	11773	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent		253
HP:0002795	HP:0002871	Central apnea	3	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0002795	HP:0002871	Central apnea	3	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		32
HP:0002795	HP:0002871	Central apnea	3	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		32
HP:0002795	HP:0002871	Central apnea	3	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	THPO CL E G H	7066	11795	ORPHA:71493	Familial thrombocytosis			23
HP:0002795	HP:0045051	Decreased DLCO	3	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3			60
HP:0002795	HP:0002098	Respiratory distress	3	TK2 CL E G H	7084	11831	ORPHA:254875	Mitochondrial DNA depletion syndrome, myopathic form	HP:0040282 - Frequent		103
HP:0002795	HP:0005946	Ventilator dependence with inability to wean	3	TK2 CL E G H	7084	11831	ORPHA:254875	Mitochondrial DNA depletion syndrome, myopathic form	HP:0040283 - Occasional		103
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	TLL1 CL E G H	7092	11843	ORPHA:99106	Atrial septal defect, ostium primum type			6
HP:0002795	HP:0002875	Exertional dyspnea	3	TLL1 CL E G H	7092	11843	ORPHA:99106	Atrial septal defect, ostium primum type	HP:0040282 - Frequent		6
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	TLL1 CL E G H	7092	11843	ORPHA:99103	Atrial septal defect, ostium secundum type			6
HP:0002795	HP:0002875	Exertional dyspnea	3	TLL1 CL E G H	7092	11843	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040282 - Frequent		6
HP:0002795	HP:0012764	Orthopnea	3	TLL1 CL E G H	7092	11843	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional		6
HP:0002795	HP:0002871	Central apnea	3	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2	.		45
HP:0002795	HP:0002876	Episodic tachypnea	3	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2	.		45
HP:0002795	HP:0002876	Episodic tachypnea	3	TMEM216 CL E G H	51259	25018	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional		45
HP:0002795	HP:0002876	Episodic tachypnea	3	TMEM218 CL E G H	219854	27344	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent
HP:0002795	HP:0002876	Episodic tachypnea	3	TMEM237 CL E G H	65062	14432	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		82
HP:0002795	HP:0002876	Episodic tachypnea	3	TMEM67 CL E G H	91147	28396	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		166
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	TNFSF11 CL E G H	8600	11926	ORPHA:667	Autosomal recessive malignant osteopetrosis			44
HP:0002795	HP:0002875	Exertional dyspnea	3	TNNC1 CL E G H	7134	11943	OMIM:613243	Cardiomyopathy, familial hypertrophic, 13			73
HP:0002795	HP:0012764	Orthopnea	3	TNNI3 CL E G H	7137	11947	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040283 - Occasional		180
HP:0002795	HP:0012764	Orthopnea	3	TNNT2 CL E G H	7139	11949	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040283 - Occasional		248
HP:0002795	HP:0002876	Episodic tachypnea	3	TOGARAM1 CL E G H	23116	19959	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
HP:0002795	HP:0002876	Episodic tachypnea	3	TOPORS CL E G H	10210	21653	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional		61
HP:0002795	HP:0002098	Respiratory distress	3	TP73 CL E G H	7161	12003	OMIM:619466	CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY; CILD47
HP:0002795	HP:0002098	Respiratory distress	3	TPI1 CL E G H	7167	12009	OMIM:615512	Triosephosphate isomerase deficiency			28
HP:0002795	HP:0007110	Central hypoventilation	3	TPM2 CL E G H	7169	12011	ORPHA:171881	Cap myopathy	HP:0040283 - Occasional		54
HP:0002795	HP:0012416	Hypercapnia	3	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		54
HP:0002795	HP:0012418	Hypoxemia	3	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		54
HP:0002795	HP:0002877	Nocturnal hypoventilation	3	TPM2 CL E G H	7169	12011	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		54
HP:0002795	HP:0007110	Central hypoventilation	3	TPM3 CL E G H	7170	12012	ORPHA:171881	Cap myopathy	HP:0040283 - Occasional		108
HP:0002795	HP:0012416	Hypercapnia	3	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		108
HP:0002795	HP:0012418	Hypoxemia	3	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		108
HP:0002795	HP:0002098	Respiratory distress	3	TRAK1 CL E G H	22906	29947	OMIM:618201	Epileptic encephalopathy, early infantile, 68	HP:0040284 - Very rare
HP:0002795	HP:0002098	Respiratory distress	3	TRIP11 CL E G H	9321	12305	ORPHA:166272	Odontochondrodysplasia	HP:0040283 - Occasional		133
HP:0002795	HP:0002098	Respiratory distress	3	TRIP11 CL E G H	9321	12305	OMIM:184260	Osteochondrodysplasia	.		133
HP:0002795	HP:0002875	Exertional dyspnea	3	TRMT5 CL E G H	57570	23141	OMIM:616539	Combined oxidative phosphorylation deficiency 26	.		4
HP:0002795	HP:0002098	Respiratory distress	3	TRMU CL E G H	55687	25481	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency	HP:0040282 - Frequent		101
HP:0002795	HP:0005946	Ventilator dependence with inability to wean	3	TRMU CL E G H	55687	25481	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency	HP:0040283 - Occasional		101
HP:0002795	HP:0002098	Respiratory distress	3	TRNE CL E G H	4556	7479	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency	HP:0040282 - Frequent
HP:0002795	HP:0005946	Ventilator dependence with inability to wean	3	TRNE CL E G H	4556	7479	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency	HP:0040283 - Occasional
HP:0002795	HP:0002098	Respiratory distress	3	TRNE CL E G H	4556	7479	ORPHA:2596	Myopathy and diabetes mellitus	HP:0040283 - Occasional
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	TRNF CL E G H	4558	7481	ORPHA:550	MELAS
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	TRNH CL E G H	4564	7487	ORPHA:550	MELAS
HP:0002795	HP:0002098	Respiratory distress	3	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS
HP:0002795	HP:0002098	Respiratory distress	3	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002795	HP:0002098	Respiratory distress	3	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency	.
HP:0002795	HP:0002875	Exertional dyspnea	3	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency	.
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS
HP:0002795	HP:0002098	Respiratory distress	3	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency	.
HP:0002795	HP:0002875	Exertional dyspnea	3	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency	.
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS
HP:0002795	HP:0002098	Respiratory distress	3	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	TRNW CL E G H	4578	7501	ORPHA:550	MELAS
HP:0002795	HP:0002098	Respiratory distress	3	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002795	HP:0010535	Sleep apnea	3	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC			214
HP:0002795	HP:0002098	Respiratory distress	3	TRPV6 CL E G H	55503	14006	OMIM:618188	Hyperparathyroidism, transient neonatal	.		4
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism			2
HP:0002795	HP:0002098	Respiratory distress	3	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex	HP:0040283 - Occasional		1090
HP:0002795	HP:0002098	Respiratory distress	3	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex	HP:0040283 - Occasional		2738
HP:0002795	HP:0002871	Central apnea	3	TSEN54 CL E G H	283989	27561	ORPHA:166063	Pontocerebellar hypoplasia type 4	HP:0040282 - Frequent		102
HP:0002795	HP:0006543	Cardiorespiratory arrest	3	TSPYL1 CL E G H	7259	12382	OMIM:608800	Sudden infant death with dysgenesis of the testes syndrome	.	HP:0003593 - Infantile onset	1
HP:0002795	HP:0010535	Sleep apnea	3	TSPYL1 CL E G H	7259	12382	ORPHA:168593	Sudden infant death-dysgenesis of the testes syndrome	HP:0040281 - Very frequent		1
HP:0002795	HP:0012263	Immotile cilia	3	TTC12 CL E G H	54970	23700	OMIM:618801	CILIARY DYSKINESIA, PRIMARY, 45; CILD45
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0002795	HP:0002877	Nocturnal hypoventilation	3	TTN CL E G H	7273	12403	ORPHA:324604	Classic multiminicore myopathy	HP:0040282 - Frequent		7128
HP:0002795	HP:0004889	Intermittent episodes of respiratory insufficiency due to muscle weakness	3	TTN CL E G H	7273	12403	ORPHA:324604	Classic multiminicore myopathy	HP:0040282 - Frequent		7128
HP:0002795	HP:0012764	Orthopnea	3	TTN CL E G H	7273	12403	ORPHA:178464	Hereditary myopathy with early respiratory failure	HP:0040282 - Frequent		7128
HP:0002795	HP:0002877	Nocturnal hypoventilation	3	TTN CL E G H	7273	12403	OMIM:603689	Myopathy, myofibrillar, 9, with early respiratory failure			7128
HP:0002795	HP:0002098	Respiratory distress	3	TUBB4A CL E G H	10382	20774	ORPHA:98805	Primary dystonia, DYT4 type	HP:0040283 - Occasional		66
HP:0002795	HP:0010535	Sleep apnea	3	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome	HP:0040283 - Occasional		18
HP:0002795	HP:0002875	Exertional dyspnea	3	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		113
HP:0002795	HP:0006543	Cardiorespiratory arrest	3	TXNDC15 CL E G H	79770	20652	OMIM:619879				2
HP:0002795	HP:0002098	Respiratory distress	3	UBA1 CL E G H	7317	12469	ORPHA:1145	Infantile-onset X-linked spinal muscular atrophy	HP:0040282 - Frequent		35
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type			7
HP:0002795	HP:0002098	Respiratory distress	3	UBE3B CL E G H	89910	13478	ORPHA:2707	Oculocerebrofacial syndrome, Kaufman type	HP:0040281 - Very frequent		13
HP:0002795	HP:0010535	Sleep apnea	3	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome			23
HP:0002795	HP:0002876	Episodic tachypnea	3	UQCRC2 CL E G H	7385	12586	OMIM:615160	Mitochondrial complex III deficiency, nuclear type 5			17
HP:0002795	HP:0033677	Acute respiratory distress syndrome	3	USP18 CL E G H	11274	12616	OMIM:617397	Pseudo-Torch syndrome 2			2
HP:0002795	HP:0010535	Sleep apnea	3	USP7 CL E G H	7874	12630	ORPHA:500055	16p13.2 microdeletion syndrome	HP:0040283 - Occasional		2
HP:0002795	HP:0010535	Sleep apnea	3	USP7 CL E G H	7874	12630	OMIM:616863	Chromosome 16p13.2 deletion syndrome			2
HP:0002795	HP:0002098	Respiratory distress	3	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted	.	HP:0003623 - Neonatal onset	27
HP:0002795	HP:0002098	Respiratory distress	3	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability	HP:0040283 - Occasional		27
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome			6
HP:0002795	HP:0002098	Respiratory distress	3	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0002795	HP:0002872	Apneic episodes precipitated by illness, fatigue, stress	3	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		2
HP:0002795	HP:0002882	Sudden episodic apnea	3	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent		2
HP:0002795	HP:0004889	Intermittent episodes of respiratory insufficiency due to muscle weakness	3	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent		2
HP:0002795	HP:0010535	Sleep apnea	3	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	VCL CL E G H	7414	12665	OMIM:613255	Cardiomyopathy, familial hypertrophic, 15			248
HP:0002795	HP:0002875	Exertional dyspnea	3	VCL CL E G H	7414	12665	OMIM:613255	Cardiomyopathy, familial hypertrophic, 15			248
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	VHL CL E G H	7428	12687	OMIM:263400	Erythrocytosis, familial, 2			490
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders			1
HP:0002795	HP:0002098	Respiratory distress	3	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders	HP:0040282 - Frequent		1
HP:0002795	HP:0002098	Respiratory distress	3	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome			1
HP:0002795	HP:0010535	Sleep apnea	3	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0002795	HP:0005348	Inspiratory stridor	3	VRK1 CL E G H	7443	12718	ORPHA:2254	Pontocerebellar hypoplasia type 1			32
HP:0002795	HP:0002098	Respiratory distress	3	WDR45B CL E G H	56270	25072	OMIM:617977	Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures			1
HP:0002795	HP:0002871	Central apnea	3	WFS1 CL E G H	7466	12762	ORPHA:3463	Wolfram syndrome	HP:0040283 - Occasional		389
HP:0002795	HP:0002098	Respiratory distress	3	XPNPEP2 CL E G H	7512	12823	ORPHA:100057	Renin-angiotensin-aldosterone system-blocker-induced angioedema			4
HP:0002795	HP:0045051	Decreased DLCO	3	XYLT1 CL E G H	64131	15516	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE			14
HP:0002795	HP:0045051	Decreased DLCO	3	XYLT2 CL E G H	64132	15517	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE			5
HP:0002795	HP:0002875	Exertional dyspnea	3	ZBTB16 CL E G H	7704	12930	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent		1
HP:0002795	HP:0010535	Sleep apnea	3	ZBTB7A CL E G H	51341	18078	OMIM:619769	MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH
HP:0002795	HP:0002098	Respiratory distress	3	ZFPM2 CL E G H	23414	16700	ORPHA:2140	Congenital diaphragmatic hernia	HP:0040282 - Frequent		31
HP:0002795	HP:0012418	Hypoxemia	3	ZFPM2 CL E G H	23414	16700	ORPHA:2140	Congenital diaphragmatic hernia	HP:0040282 - Frequent		31
HP:0002795	HP:0002871	Central apnea	3	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		34
HP:0002795	HP:0002871	Central apnea	3	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		34
HP:0002795	HP:0002871	Central apnea	3	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		34
HP:0002795	HP:0002871	Central apnea	3	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		34
HP:0002795	HP:0002098	Respiratory distress	3	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked	.		39
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome			83
HP:0002795	HP:0002875	Exertional dyspnea	3	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040282 - Frequent		83
HP:0002795	HP:0010535	Sleep apnea	3	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0002795	HP:0012263	Immotile cilia	3	ZMYND10 CL E G H	51364	19412	OMIM:615444	Ciliary dyskinesia, primary, 22			20
HP:0002795	HP:0012265	Ciliary dyskinesia	3	ZMYND10 CL E G H	51364	19412	OMIM:615444	Ciliary dyskinesia, primary, 22	.		20
HP:0002795	HP:0033578	Pre-capillary pulmonary hypertension	3	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0002795	HP:0005941	Intermittent hyperpnea at rest	4	CL E G H
HP:0002795	HP:0030864	Intercostal retractions	4	CL E G H
HP:0002795	HP:0031997	Early inspiratory crackles	4	CL E G H
HP:0002795	HP:0031998	Late inspiratory crackles	4	CL E G H
HP:0002795	HP:0033367	Orthodeoxia	4	CL E G H
HP:0002795	HP:0034038	Silent hypoxemia	4	CL E G H
HP:0002795	HP:0034312	Nocturnal hypoxemia	4	CL E G H
HP:0002795	HP:0030863	Nasal flaring	4	ABCA3 CL E G H	21	33	ORPHA:70587	Infant acute respiratory distress syndrome	HP:0040282 - Frequent		147
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040284 - Very rare		415
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type	HP:0040283 - Occasional		53
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	ACTA2 CL E G H	59	130	OMIM:613834	Multisystemic smooth muscle dysfunction syndrome	.		94
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	ACTC1 CL E G H	70	143	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional		208
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	ACVRL1 CL E G H	94	175	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional		178
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2	.		178
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome	HP:0040283 - Occasional		6
HP:0002795	HP:0002870	Obstructive sleep apnea	4	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		127
HP:0002795	HP:0004885	Episodic respiratory distress	4	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		127
HP:0002795	HP:0010536	Central sleep apnea	4	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		127
HP:0002795	HP:0004886	Congenital laryngeal stridor	4	AGTPBP1 CL E G H	23287	17258	ORPHA:2254	Pontocerebellar hypoplasia type 1			1
HP:0002795	HP:0002870	Obstructive sleep apnea	4	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome	HP:0040282 - Frequent		36
HP:0002795	HP:0002870	Obstructive sleep apnea	4	AHDC1 CL E G H	27245	25230	OMIM:615829	Xia-Gibbs syndrome	.		36
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	ALDH1A2 CL E G H	8854	15472	OMIM:620025
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040283 - Occasional		404
HP:0002795	HP:0002870	Obstructive sleep apnea	4	ARCN1 CL E G H	372	649	OMIM:617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay	.		3
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional		147
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1	.		147
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI			120
HP:0002795	HP:0010536	Central sleep apnea	4	ASCL1 CL E G H	429	738	ORPHA:99803	Haddad syndrome	HP:0040281 - Very frequent		15
HP:0002795	HP:0002870	Obstructive sleep apnea	4	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome	HP:0040282 - Frequent		145
HP:0002795	HP:0002870	Obstructive sleep apnea	4	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies	HP:0040284 - Very rare		16
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	ATP13A3 CL E G H	79572	24113	OMIM:265400	Pulmonary hypertension, primary, autosomal recessive	.
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	ATP5F1A CL E G H	498	823	OMIM:616045	Combined oxidative phosphorylation deficiency 22	.
HP:0002795	HP:0004885	Episodic respiratory distress	4	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome	.		22
HP:0002795	HP:0002870	Obstructive sleep apnea	4	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant			46
HP:0002795	HP:0002870	Obstructive sleep apnea	4	BMP2 CL E G H	650	1069	OMIM:617877	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies	.		13
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	BMPR2 CL E G H	659	1078	OMIM:178600	Pulmonary hypertension, primary, 1			525
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	BMPR2 CL E G H	659	1078	OMIM:265450	PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT; PVOD1			525
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	BTNL2 CL E G H	56244	1142	OMIM:612387	Sarcoidosis, susceptibility to, 2			1
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis			29
HP:0002795	HP:0002870	Obstructive sleep apnea	4	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis			29
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	CACNA1C CL E G H	775	1390	OMIM:620029				572
HP:0002795	HP:0002870	Obstructive sleep apnea	4	CACNA1C CL E G H	775	1390	OMIM:620029				572
HP:0002795	HP:0010536	Central sleep apnea	4	CACNA1C CL E G H	775	1390	OMIM:620029				572
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	CACNA1D CL E G H	776	1391	OMIM:615474	Primary aldosteronism, seizures, and neurologic abnormalities	HP:0040283 - Occasional		51
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	CACNA1D CL E G H	776	1391	ORPHA:369929	Primary hyperaldosteronism-seizures-neurological abnormalities syndrome	HP:0040282 - Frequent		51
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	CAV1 CL E G H	857	1527	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040283 - Occasional		11
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	CAV1 CL E G H	857	1527	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040283 - Occasional		11
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7			11
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	CAV1 CL E G H	857	1527	OMIM:615343	Pulmonary hypertension, primary, 3	.		11
HP:0002795	HP:0002870	Obstructive sleep apnea	4	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome	.
HP:0002795	HP:0010536	Central sleep apnea	4	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome	.
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	CCN2 CL E G H	1490	2500	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040283 - Occasional
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	CCN2 CL E G H	1490	2500	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040283 - Occasional
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	CCR6 CL E G H	1235	1607	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040283 - Occasional
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	CCR6 CL E G H	1235	1607	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040283 - Occasional
HP:0002795	HP:0002870	Obstructive sleep apnea	4	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0002795	HP:0010536	Central sleep apnea	4	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder			8
HP:0002795	HP:0002870	Obstructive sleep apnea	4	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40			16
HP:0002795	HP:0002870	Obstructive sleep apnea	4	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		65
HP:0002795	HP:0004885	Episodic respiratory distress	4	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		65
HP:0002795	HP:0010536	Central sleep apnea	4	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		65
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations	.		165
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	CITED2 CL E G H	10370	1987	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional		5
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	CITED2 CL E G H	10370	1987	ORPHA:99105	Atrial septal defect, sinus venosus type	HP:0040283 - Occasional		5
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040283 - Occasional		102
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG	HP:0040282 - Frequent		52
HP:0002795	HP:0002870	Obstructive sleep apnea	4	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		6
HP:0002795	HP:0004885	Episodic respiratory distress	4	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		6
HP:0002795	HP:0010536	Central sleep apnea	4	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		6
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	COL1A1 CL E G H	1277	2197	OMIM:259420	Osteogenesis imperfecta, type III	.		373
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	COL1A2 CL E G H	1278	2198	OMIM:259420	Osteogenesis imperfecta, type III	.		243
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040284 - Very rare		90
HP:0002795	HP:0010536	Central sleep apnea	4	COQ2 CL E G H	27235	25223	ORPHA:227510	Multiple system atrophy, cerebellar type	HP:0040282 - Frequent		54
HP:0002795	HP:0010536	Central sleep apnea	4	COQ2 CL E G H	27235	25223	ORPHA:98933	Multiple system atrophy, parkinsonian type	HP:0040282 - Frequent		54
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	COX1 CL E G H	4512	7419	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	COX2 CL E G H	4513	7421	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	COX3 CL E G H	4514	7422	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	COX5A CL E G H	9377	2267	OMIM:619064	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	COX6B1 CL E G H	1340	2280	OMIM:619051	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN7			10
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	COX7B CL E G H	1349	2291	OMIM:300887	Linear skin defects with multiple congenital anomalies 2	HP:0040283 - Occasional		6
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	COX8A CL E G H	1351	2294	OMIM:619059	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15; MC4DN15			1
HP:0002795	HP:0002870	Obstructive sleep apnea	4	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0002795	HP:0002870	Obstructive sleep apnea	4	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	HP:0040282 - Frequent		291
HP:0002795	HP:0002870	Obstructive sleep apnea	4	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040282 - Frequent		291
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder	HP:0040283 - Occasional		20
HP:0002795	HP:0002870	Obstructive sleep apnea	4	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis			39
HP:0002795	HP:0002870	Obstructive sleep apnea	4	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0002795	HP:0010536	Central sleep apnea	4	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I	HP:0040283 - Occasional
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional		1
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional		9
HP:0002795	HP:0002870	Obstructive sleep apnea	4	DMD CL E G H	1756	2928	OMIM:310200	Duchenne muscular dystrophy			1496
HP:0002795	HP:0002870	Obstructive sleep apnea	4	DNA2 CL E G H	1763	2939	ORPHA:352470	DNA2-related mitochondrial DNA deletion syndrome	HP:0040282 - Frequent		41
HP:0002795	HP:0002870	Obstructive sleep apnea	4	DNA2 CL E G H	1763	2939	OMIM:615156	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 6	HP:0040283 - Occasional		41
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional		18
HP:0002795	HP:0002870	Obstructive sleep apnea	4	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0002795	HP:0002870	Obstructive sleep apnea	4	EDN1 CL E G H	1906	3176	ORPHA:137888	Auriculocondylar syndrome	HP:0040282 - Frequent		6
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	EIF2AK4 CL E G H	440275	19687	OMIM:234810	PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD2			40
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	ENG CL E G H	2022	3349	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional		186
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1			186
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040284 - Very rare		151
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional		4
HP:0002795	HP:0002870	Obstructive sleep apnea	4	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0002795	HP:0002870	Obstructive sleep apnea	4	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040282 - Frequent		250
HP:0002795	HP:0002870	Obstructive sleep apnea	4	EXOC2 CL E G H	55770	24968	OMIM:619306	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH			1
HP:0002795	HP:0004886	Congenital laryngeal stridor	4	EXOSC3 CL E G H	51010	17944	ORPHA:2254	Pontocerebellar hypoplasia type 1			38
HP:0002795	HP:0004886	Congenital laryngeal stridor	4	EXOSC8 CL E G H	11340	17035	ORPHA:2254	Pontocerebellar hypoplasia type 1			4
HP:0002795	HP:0004886	Congenital laryngeal stridor	4	EXOSC9 CL E G H	5393	9137	ORPHA:2254	Pontocerebellar hypoplasia type 1
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	FBN1 CL E G H	2200	3603	OMIM:614185	GELEOPHYSIC DYSPLASIA 2; GPHYSD2			1361
HP:0002795	HP:0002870	Obstructive sleep apnea	4	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0002795	HP:0010536	Central sleep apnea	4	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	FGFR1 CL E G H	2260	3688	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040282 - Frequent		172
HP:0002795	HP:0002870	Obstructive sleep apnea	4	FGFR3 CL E G H	2261	3690	ORPHA:15	Achondroplasia	HP:0040282 - Frequent		145
HP:0002795	HP:0010536	Central sleep apnea	4	FGFR3 CL E G H	2261	3690	ORPHA:15	Achondroplasia	HP:0040282 - Frequent		145
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	FGFR3 CL E G H	2261	3690	OMIM:616482	Achondroplasia, severe, with developmental delay and acanthosis nigricans	HP:0040283 - Occasional		145
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome	.		111
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent		111
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome	.		493
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins			61
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia	HP:0040281 - Very frequent		61
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome	HP:0040283 - Occasional		184
HP:0002795	HP:0002870	Obstructive sleep apnea	4	FXR1 CL E G H	8087	4023	OMIM:618823	MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS; MYOPMIL
HP:0002795	HP:0002870	Obstructive sleep apnea	4	FXR1 CL E G H	8087	4023	OMIM:618822	MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES; MYORIBF
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive	.		37
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	GATA4 CL E G H	2626	4173	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional		87
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	GATA6 CL E G H	2627	4174	OMIM:614475	Atrial septal defect 9	HP:0040283 - Occasional		37
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	GATA6 CL E G H	2627	4174	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional		37
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	GBA1 CL E G H	2629	4177	ORPHA:77259	Gaucher disease type 1	HP:0040283 - Occasional
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	GBA1 CL E G H	2629	4177	ORPHA:77261	Gaucher disease type 3	HP:0040283 - Occasional
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	GBA1 CL E G H	2629	4177	OMIM:230800	Gaucher disease, type I
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	HP:0040284 - Very rare
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	GDF2 CL E G H	2658	4217	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional		8
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	GJA1 CL E G H	2697	4274	OMIM:600309	Atrioventricular septal defect 3	.		68
HP:0002795	HP:0002870	Obstructive sleep apnea	4	GNAI3 CL E G H	2773	4387	ORPHA:137888	Auriculocondylar syndrome	HP:0040282 - Frequent		2
HP:0002795	HP:0002870	Obstructive sleep apnea	4	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II	HP:0040282 - Frequent		240
HP:0002795	HP:0002870	Obstructive sleep apnea	4	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7	HP:0040283 - Occasional
HP:0002795	HP:0002870	Obstructive sleep apnea	4	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII			54
HP:0002795	HP:0002870	Obstructive sleep apnea	4	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	HBB CL E G H	3043	4827	ORPHA:231222	Beta-thalassemia intermedia	HP:0040283 - Occasional		580
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	HLA-B CL E G H	3106	4932	ORPHA:3287	Takayasu arteritis	HP:0040282 - Frequent		4
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	HLA-DRB1 CL E G H	3123	4948	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040283 - Occasional		2
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	HLA-DRB1 CL E G H	3123	4948	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040283 - Occasional		2
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1			2
HP:0002795	HP:0002870	Obstructive sleep apnea	4	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome	.		113
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040283 - Occasional		345
HP:0002795	HP:0002870	Obstructive sleep apnea	4	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II	.		86
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome	.		115
HP:0002795	HP:0002870	Obstructive sleep apnea	4	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome	.		115
HP:0002795	HP:0002870	Obstructive sleep apnea	4	IDUA CL E G H	3425	5391	OMIM:607016	Scheie syndrome	.		115
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti	HP:0040283 - Occasional		52
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	IL12B CL E G H	3593	5970	ORPHA:3287	Takayasu arteritis	HP:0040282 - Frequent		31
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	IL6ST CL E G H	3572	6021	OMIM:619751	STUVE-WIEDEMANN SYNDROME 2; STWS2
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	IRF5 CL E G H	3663	6120	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040283 - Occasional		4
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	IRF5 CL E G H	3663	6120	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040283 - Occasional		4
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	JAK2 CL E G H	3717	6192	ORPHA:71493	Familial thrombocytosis	HP:0040283 - Occasional		57
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	KCNK3 CL E G H	3777	6278	OMIM:615344	Pulmonary hypertension, primary, 4	.		7
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	KIAA0319L CL E G H	79932	30071	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040283 - Occasional
HP:0002795	HP:0004875	Neonatal inspiratory stridor	4	KIF22 CL E G H	3835	6391	ORPHA:93360	Spondyloepimetaphyseal dysplasia with multiple dislocations	HP:0040283 - Occasional		14
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	KRAS CL E G H	3845	6407	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040282 - Frequent		196
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	KRT18 CL E G H	3875	6430	OMIM:215600	Cirrhosis, familial	.		19
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy	HP:0040284 - Very rare		411
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040284 - Very rare		92
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome	.		144
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	LIPT1 CL E G H	51601	29569	OMIM:616299	Lipoyltransferase 1 deficiency	.		21
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040284 - Very rare		645
HP:0002795	HP:0002870	Obstructive sleep apnea	4	LRPPRC CL E G H	10128	15714	ORPHA:70472	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	HP:0040283 - Occasional		191
HP:0002795	HP:0010536	Central sleep apnea	4	LRPPRC CL E G H	10128	15714	ORPHA:70472	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	HP:0040283 - Occasional		191
HP:0002795	HP:0002870	Obstructive sleep apnea	4	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome	HP:0040283 - Occasional		63
HP:0002795	HP:0010536	Central sleep apnea	4	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome	HP:0040283 - Occasional		63
HP:0002795	HP:0002870	Obstructive sleep apnea	4	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040283 - Occasional		63
HP:0002795	HP:0002870	Obstructive sleep apnea	4	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040283 - Occasional		63
HP:0002795	HP:0002870	Obstructive sleep apnea	4	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040283 - Occasional		63
HP:0002795	HP:0002870	Obstructive sleep apnea	4	MCM3AP CL E G H	8888	6946	OMIM:618124	Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development			3
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1	HP:0040283 - Occasional		228
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome	HP:0040283 - Occasional		43
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional		1
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	MGP CL E G H	4256	7060	ORPHA:85202	Keutel syndrome	HP:0040282 - Frequent		33
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	MLX CL E G H	6945	11645	ORPHA:3287	Takayasu arteritis	HP:0040282 - Frequent
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC	HP:0040283 - Occasional		101
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	MPL CL E G H	4352	7217	ORPHA:71493	Familial thrombocytosis	HP:0040283 - Occasional		97
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	MUC5B CL E G H	727897	7516	OMIM:178500	Pulmonary fibrosis, idiopathic	.		133
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	MYBPC3 CL E G H	4607	7551	OMIM:615396	Left ventricular noncompaction 10			1143
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	MYH6 CL E G H	4624	7576	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional		452
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	MYH7 CL E G H	4625	7577	OMIM:613426	Cardiomyopathy, dilated, 1S			1269
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome			5
HP:0002795	HP:0002870	Obstructive sleep apnea	4	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare
HP:0002795	HP:0004885	Episodic respiratory distress	4	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent
HP:0002795	HP:0010536	Central sleep apnea	4	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0002795	HP:0002870	Obstructive sleep apnea	4	NACC1 CL E G H	112939	20967	OMIM:617393	Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination			1
HP:0002795	HP:0010536	Central sleep apnea	4	NADK2 CL E G H	133686	26404	ORPHA:431361	Progressive encephalopathy with leukodystrophy due to DECR deficiency	HP:0040282 - Frequent		14
HP:0002795	HP:0002870	Obstructive sleep apnea	4	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040283 - Occasional		48
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	ND1 CL E G H	4535	7455	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0002795	HP:0004885	Episodic respiratory distress	4	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0002795	HP:0004885	Episodic respiratory distress	4	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0002795	HP:0004885	Episodic respiratory distress	4	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	ND4 CL E G H	4538	7459	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0002795	HP:0004885	Episodic respiratory distress	4	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	ND5 CL E G H	4540	7461	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0002795	HP:0004885	Episodic respiratory distress	4	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	ND6 CL E G H	4541	7462	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0002795	HP:0004885	Episodic respiratory distress	4	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0002795	HP:0002870	Obstructive sleep apnea	4	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040283 - Occasional
HP:0002795	HP:0002870	Obstructive sleep apnea	4	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040283 - Occasional
HP:0002795	HP:0002870	Obstructive sleep apnea	4	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040283 - Occasional
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	NDUFA8 CL E G H	4702	7692	OMIM:619272	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	NDUFB10 CL E G H	4716	7696	OMIM:619003	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040283 - Occasional		1952
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome	HP:0040283 - Occasional		40
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome	.		40
HP:0002795	HP:0002870	Obstructive sleep apnea	4	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome	.		40
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	NFU1 CL E G H	27247	16287	OMIM:605711	Multiple mitochondrial dysfunctions syndrome 1	.		34
HP:0002795	HP:0002870	Obstructive sleep apnea	4	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040282 - Frequent		32
HP:0002795	HP:0010536	Central sleep apnea	4	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation			32
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome	HP:0040283 - Occasional		51
HP:0002795	HP:0030874	Oxygen desaturation on exertion	4	NKX2-1 CL E G H	7080	11825	OMIM:610978	Choreoathetosis, hypothyroidism, and neonatal respiratory distress			51
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	NKX2-5 CL E G H	1482	2488	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional		90
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome	HP:0040283 - Occasional		187
HP:0002795	HP:0002870	Obstructive sleep apnea	4	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome	HP:0040283 - Occasional		10
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional		452
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5	.		452
HP:0002795	HP:0002870	Obstructive sleep apnea	4	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040283 - Occasional		121
HP:0002795	HP:0002870	Obstructive sleep apnea	4	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040283 - Occasional		121
HP:0002795	HP:0002870	Obstructive sleep apnea	4	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040283 - Occasional		121
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	PAM16 CL E G H	51025	29679	OMIM:613320	Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type	.		1
HP:0002795	HP:0002870	Obstructive sleep apnea	4	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome	.
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	PDSS1 CL E G H	23590	17759	OMIM:614651	Coenzyme Q10 deficiency, primary, 2	.		40
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It			58
HP:0002795	HP:0010536	Central sleep apnea	4	PHOX2B CL E G H	8929	9143	ORPHA:99803	Haddad syndrome	HP:0040281 - Very frequent		86
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional		37
HP:0002795	HP:0002870	Obstructive sleep apnea	4	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome	HP:0040283 - Occasional		12
HP:0002795	HP:0010536	Central sleep apnea	4	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome	HP:0040283 - Occasional		12
HP:0002795	HP:0002870	Obstructive sleep apnea	4	PLCB4 CL E G H	5332	9059	ORPHA:137888	Auriculocondylar syndrome	HP:0040282 - Frequent		82
HP:0002795	HP:0004886	Congenital laryngeal stridor	4	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease			60
HP:0002795	HP:0002870	Obstructive sleep apnea	4	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome	HP:0040284 - Very rare		35
HP:0002795	HP:0002870	Obstructive sleep apnea	4	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome			35
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	PPCS CL E G H	79717	25686	OMIM:618189	Cardiomyopathy, dilated, 2C	.
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0002795	HP:0002870	Obstructive sleep apnea	4	PRKAR1B CL E G H	5575	9390	OMIM:619680	MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS			2
HP:0002795	HP:0010536	Central sleep apnea	4	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome	HP:0040283 - Occasional		49
HP:0002795	HP:0002870	Obstructive sleep apnea	4	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional		3
HP:0002795	HP:0010536	Central sleep apnea	4	RET CL E G H	5979	9967	ORPHA:99803	Haddad syndrome	HP:0040281 - Very frequent		572
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	RPL3L CL E G H	6123	10351	OMIM:619371	CARDIOMYOPATHY, DILATED, 2D; CMD2D
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	SARS2 CL E G H	54938	17697	OMIM:613845	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome	.		60
HP:0002795	HP:0002870	Obstructive sleep apnea	4	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement	HP:0040283 - Occasional		34
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	SCARB2 CL E G H	950	1665	ORPHA:77259	Gaucher disease type 1	HP:0040283 - Occasional		77
HP:0002795	HP:0004875	Neonatal inspiratory stridor	4	SCN4A CL E G H	6329	10591	ORPHA:684	Paramyotonia congenita of Von Eulenburg	HP:0040282 - Frequent		263
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	SFTPA2 CL E G H	729238	10799	OMIM:178500	Pulmonary fibrosis, idiopathic	.		10
HP:0002795	HP:0030863	Nasal flaring	4	SFTPB CL E G H	6439	10801	ORPHA:70587	Infant acute respiratory distress syndrome	HP:0040282 - Frequent		51
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	SFTPB CL E G H	6439	10801	ORPHA:217563	Neonatal acute respiratory distress due to SP-B deficiency	HP:0040282 - Frequent		51
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	SFTPB CL E G H	6439	10801	OMIM:265120	Surfactant metabolism dysfunction, pulmonary, 1			51
HP:0002795	HP:0030863	Nasal flaring	4	SFTPC CL E G H	6440	10802	ORPHA:70587	Infant acute respiratory distress syndrome	HP:0040282 - Frequent		33
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	SFTPC CL E G H	6440	10802	OMIM:178500	Pulmonary fibrosis, idiopathic	.		33
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	SFTPC CL E G H	6440	10802	OMIM:610913	Surfactant metabolism dysfunction, pulmonary, 2			33
HP:0002795	HP:0002870	Obstructive sleep apnea	4	SH3BP2 CL E G H	6452	10825	ORPHA:184	Cherubism	HP:0040283 - Occasional		177
HP:0002795	HP:0002870	Obstructive sleep apnea	4	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome	HP:0040283 - Occasional		40
HP:0002795	HP:0010536	Central sleep apnea	4	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome	HP:0040283 - Occasional		40
HP:0002795	HP:0002870	Obstructive sleep apnea	4	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome			150
HP:0002795	HP:0002870	Obstructive sleep apnea	4	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		2
HP:0002795	HP:0004885	Episodic respiratory distress	4	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		2
HP:0002795	HP:0010536	Central sleep apnea	4	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		2
HP:0002795	HP:0002870	Obstructive sleep apnea	4	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		28
HP:0002795	HP:0004885	Episodic respiratory distress	4	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		28
HP:0002795	HP:0010536	Central sleep apnea	4	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		28
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0002795	HP:0004886	Congenital laryngeal stridor	4	SLC25A46 CL E G H	91137	25198	ORPHA:2254	Pontocerebellar hypoplasia type 1			14
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome			68
HP:0002795	HP:0030874	Oxygen desaturation on exertion	4	SLC34A2 CL E G H	10568	11020	ORPHA:60025	Pulmonary alveolar microlithiasis	HP:0040282 - Frequent		7
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic	.		110
HP:0002795	HP:0005951	Progressive inspiratory stridor	4	SLC52A3 CL E G H	113278	16187	OMIM:211500	Bulbar palsy, progressive, of childhood	.		51
HP:0002795	HP:0002870	Obstructive sleep apnea	4	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		9
HP:0002795	HP:0004885	Episodic respiratory distress	4	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		9
HP:0002795	HP:0010536	Central sleep apnea	4	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		9
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	SMAD4 CL E G H	4089	6770	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional		504
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	SMAD9 CL E G H	4093	6774	OMIM:615342	Pulmonary hypertension, primary, 2	.		132
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type			74
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia	HP:0040283 - Occasional		74
HP:0002795	HP:0002870	Obstructive sleep apnea	4	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		2
HP:0002795	HP:0004885	Episodic respiratory distress	4	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		2
HP:0002795	HP:0010536	Central sleep apnea	4	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		2
HP:0002795	HP:0002870	Obstructive sleep apnea	4	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040283 - Occasional		37
HP:0002795	HP:0002870	Obstructive sleep apnea	4	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040283 - Occasional		37
HP:0002795	HP:0002870	Obstructive sleep apnea	4	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040283 - Occasional		37
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	SNX10 CL E G H	29887	14974	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040283 - Occasional		2
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040283 - Occasional		89
HP:0002795	HP:0002870	Obstructive sleep apnea	4	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		4
HP:0002795	HP:0004885	Episodic respiratory distress	4	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		4
HP:0002795	HP:0010536	Central sleep apnea	4	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		4
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	TBX20 CL E G H	57057	11598	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional		20
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome	HP:0040282 - Frequent		55
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	TCIRG1 CL E G H	10312	11647	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040283 - Occasional		82
HP:0002795	HP:0002870	Obstructive sleep apnea	4	TERT CL E G H	7015	11730	OMIM:614742	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1			238
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	TERT CL E G H	7015	11730	OMIM:178500	Pulmonary fibrosis, idiopathic	.		238
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	THPO CL E G H	7066	11795	ORPHA:71493	Familial thrombocytosis	HP:0040283 - Occasional		23
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	TLL1 CL E G H	7092	11843	ORPHA:99106	Atrial septal defect, ostium primum type	HP:0040283 - Occasional		6
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	TLL1 CL E G H	7092	11843	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional		6
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	TNFSF11 CL E G H	8600	11926	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040283 - Occasional		44
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040283 - Occasional
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	TRNF CL E G H	4558	7481	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	TRNH CL E G H	4564	7487	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0002795	HP:0004885	Episodic respiratory distress	4	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0002795	HP:0004885	Episodic respiratory distress	4	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0002795	HP:0004885	Episodic respiratory distress	4	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	TRNW CL E G H	4578	7501	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0002795	HP:0004885	Episodic respiratory distress	4	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0002795	HP:0002870	Obstructive sleep apnea	4	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC	.		214
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism			2
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type	HP:0040283 - Occasional		7
HP:0002795	HP:0002870	Obstructive sleep apnea	4	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040283 - Occasional		23
HP:0002795	HP:0010536	Central sleep apnea	4	USP7 CL E G H	7874	12630	OMIM:616863	Chromosome 16p13.2 deletion syndrome			2
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent		6
HP:0002795	HP:0002870	Obstructive sleep apnea	4	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		2
HP:0002795	HP:0004885	Episodic respiratory distress	4	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		2
HP:0002795	HP:0010536	Central sleep apnea	4	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		2
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	VCL CL E G H	7414	12665	OMIM:613255	Cardiomyopathy, familial hypertrophic, 15			248
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	VHL CL E G H	7428	12687	OMIM:263400	Erythrocytosis, familial, 2			490
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders	HP:0040282 - Frequent		1
HP:0002795	HP:0004886	Congenital laryngeal stridor	4	VRK1 CL E G H	7443	12718	ORPHA:2254	Pontocerebellar hypoplasia type 1			32
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040284 - Very rare		83
HP:0002795	HP:0002870	Obstructive sleep apnea	4	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0002795	HP:0002092	Pulmonary arterial hypertension	4	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0002795	HP:0033423	Pulmonary arterial hypertension with positive acute response to NO challenge	5	CL E G H
HP:0002795	HP:0033424	Pulmonary arterial hypertension with lack of acute response to NO challenge	5	KCNK3 CL E G H	3777	6278	OMIM:615344	Pulmonary hypertension, primary, 4			7

Genes (1398) :AAAS AARS1 ABCA12 ABCA3 ABCB11 ABCB4 ABCC6 ABCC9 ABCD4 ABCG5 ABCG8 ACADM ACADS ACADSB ACADVL ACAN ACAT1 ACE ACOX1 ACP5 ACTA1 ACTA2 ACTC1 ACTN2 ACVR1 ACVRL1 ACY1 ADA ADAM22 ADAMTS13 ADAMTS3 ADCY6 ADGRG1 ADNP ADPRS ADRB2 AFF3 AFF4 AGGF1 AGK AGO2 AGRN AGT AGTPBP1 AGTR1 AHCY AHDC1 AHI1 AIFM1 AIP AK9 AKT1 ALAD ALAS2 ALDH1A2 ALDH7A1 ALG1 ALG14 ALG9 ALMS1 ALOX5 ALPL AMER1 ANG ANXA11 AP3D1 APC APOB ARCN1 ARHGAP31 ARL13B ARL3 ARL6 ARMC9 ARSB ARSL ARVCF ARX ASAH1 ASCC1 ASCL1 ASNS ASXL1 ATAD1 ATL1 ATL3 ATN1 ATP11A ATP13A3 ATP1A2 ATP1A3 ATP5F1A ATP6 ATP6V1B2 ATP8B1 ATRX ATXN1 ATXN2 ATXN8 ATXN8OS B3GALT6 B9D1 B9D2 BAG3 BANF1 BAP1 BBS1 BCHE BCL11B BCOR BDNF BICD2 BIN1 BLM BLNK BMP2 BMPER BMPR2 BOLA3 BRAF BRAT1 BSCL2 BTD BTK BTNL2 BUB1 BUB1B BUB3 C19ORF12 C2CD3 C4A C4B C9ORF72 CA2 CA5A CABP4 CACNA1A CACNA1C CACNA1D CACNA1H CACNA1S CAMK2B CANT1 CARD10 CARD11 CARMIL2 CARS1 CASK CASP8 CASR CAV1 CBS CBY1 CC2D2A CCBE1 CCDC103 CCDC174 CCDC28B CCDC39 CCDC40 CCDC47 CCDC65 CCL11 CCN2 CCNF CCNO CCR1 CCR6 CD19 CD40LG CD55 CD79A CD79B CD81 CDC42BPB CDC45 CDC6 CDK13 CDKL5 CDKN1C CDON CDSN CDT1 CEACAM3 CEACAM6 CEP104 CEP120 CEP290 CEP41 CEP57 CFAP221 CFAP298 CFAP300 CFAP410 CFAP52 CFL2 CFTR CHAMP1 CHAT CHCHD10 CHD7 CHMP2B CHRNA1 CHRNA2 CHRNA4 CHRNB1 CHRNB2 CHRND CHRNE CHRNG CHST3 CISD2 CITED2 CIZ1 CLCA4 CLCF1 CLCN6 CLCN7 CLCNKB CLEC7A CLPB CNOT1 CNTN1 CNTNAP1 CNTNAP2 COA6 COA8 COG1 COG7 COL11A1 COL11A2 COL12A1 COL13A1 COL1A1 COL1A2 COL25A1 COL2A1 COL3A1 COL4A5 COL4A6 COL6A1 COL6A2 COL6A3 COLQ COMT COPA COQ2 COQ4 COQ7 COQ9 COX1 COX14 COX15 COX2 COX3 COX4I2 COX5A COX6A2 COX6B1 COX7B COX8A CPLANE1 CPOX CPS1 CPT2 CR2 CREBBP CRH CRLF1 CRPPA CRYAB CSF2RA CSF2RB CSGALNACT1 CSPP1 CTCF CTLA4 CTNNB1 CTSD CTSK CUL7 CYB5A CYB5R3 CYBA CYBB CYBC1 CYP27A1 CYTB D2HGDH DAG1 DAO DAXX DBH DCTN1 DCTN4 DCX DDB1 DDC DDR2 DDRGK1 DDX41 DEF6 DEPDC5 DES DHX16 DISC1 DISP1 DKC1 DKK1 DLEC1 DLK1 DLL1 DLL3 DLL4 DMD DMPK DNA2 DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB13 DNAJB6 DNAJC21 DNAL1 DNASE1L3 DNM1L DNM2 DOCK6 DOCK8 DOK7 DOLK DPAGT1 DPH1 DPH5 DPM1 DPM2 DPP9 DPYD DRC1 DSC2 DSG2 DSP DST DTYMK DYM DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DZIP1L ECHS1 EDA EDN1 EDN3 EDNRA EFEMP2 EFTUD2 EGR2 EIF2AK4 ELN ELOVL4 ELP1 EMD ENG ENPP1 EOGT EOMES EP300 EPHA4 EPHB4 EPOR ERAP1 ERBB3 ERBB4 ERCC2 ERCC3 ERF ERGIC1 ETFA ETFB ETFDH EXOC2 EXOC6B EXOSC3 EXOSC8 EXOSC9 F12 F13A1 F2 F8 FAM13A FAM149B1 FAM20C FARS2 FARSA FARSB FAS FAT4 FBLN5 FBN1 FBP1 FBXO28 FCGR2A FCGR3A FCSK FGF13 FGF8 FGFR1 FGFR2 FGFR3 FHL1 FIG4 FIP1L1 FKBP10 FKRP FKTN FLAD1 FLCN FLG FLNA FLNB FLNC FOCAD FOXE1 FOXE3 FOXF1 FOXG1 FOXH1 FOXI1 FOXJ1 FOXP1 FOXP3 FOXRED1 FRG1 FUS FUT8 FUZ FXR1 G6PC3 GAA GABBR2 GABRA1 GABRA3 GABRB3 GABRG2 GALC GALK1 GALNS GARS1 GAS1 GAS2L2 GAS8 GATA2 GATA4 GATA6 GBA1 GCLC GDAP1 GDF2 GDNF GFPT1 GFRA1 GGPS1 GIPC1 GJA1 GLA GLB1 GLE1 GLI2 GLI3 GLRA1 GLS GLT8D1 GLUL GLYCTK GM2A GMNN GMPPA GMPPB GNA11 GNAI3 GNAQ GNAS GNB1 GNB2 GNE GNPTAB GP1BA GP1BB GP9 GPC3 GPC4 GPHN GPR101 GPX4 GRB10 GRHL2 GRIK2 GRIN1 GRIN2A GRM7 GSN GSTM3 GTF2E2 GTF2H5 GTPBP3 GUSB GYG1 GZF1 H4C5 HABP2 HACD1 HADHA HADHB HBB HCCS HDAC4 HEPHL1 HERC2 HES7 HEY2 HFE HIBCH HIRA HLA-B HLA-DPA1 HLA-DPB1 HLA-DQA1 HLA-DQB1 HLA-DRB1 HLA-G HLCS HMBS HMGA2 HMGCL HMOX1 HNMT HNRNPA1 HNRNPA2B1 HNRNPK HOXA1 HPDL HPS1 HPS4 HRAS HSD3B2 HSPD1 HSPG2 HTRA2 HYDIN HYLS1 HYMAI IBA57 ICOS IDH1 IDS IDUA IFIH1 IFNG IFNGR1 IFT140 IFT172 IFT52 IFT80 IFT81 IGF2 IGHG2 IGHM IGHMBP2 IGKC IGLL1 IKBKG IKZF1 IL10 IL12A IL12A-AS1 IL12B IL13 IL17F IL17RA IL17RC IL1RN IL23R IL2RG IL4R IL6ST INPP5E INPP5K INPPL1 INVS IPO8 IPW IRAK1 IRF2BP2 IRF4 IRF5 IRF6 ISCU ITCH ITGA3 ITGA7 JAG1 JAG2 JAK1 JAK2 JMJD1C JPH2 JRK JUP KAT6A KAT6B KATNB1 KATNIP KBTBD13 KCNA1 KCNE3 KCNJ10 KCNJ11 KCNJ18 KCNJ5 KCNJ6 KCNK3 KCNN4 KCNQ2 KCNQ3 KCNT1 KIAA0319L KIAA0586 KIAA0753 KIF20A KIF22 KIF5A KIF7 KIT KLHL40 KLHL41 KLHL7 KLRC4 KNSTRN KRAS KRT16 KRT17 KRT18 KRT6A KRT6B KYNU LAMA2 LAMA3 LAMB2 LAMB3 LAMC2 LAMP2 LARGE1 LARP7 LARS2 LAT LBR LBX1 LDLR LDLRAP1 LFNG LGI4 LIAS LIFR LIG4 LIPT1 LIPT2 LMNA LMOD3 LMX1B LONP1 LOX LPIN2 LRBA LRP12 LRP4 LRP5 LRPPRC LRRC32 LRRC56 LRRC8A LTBP1 LTBP3 LTBP4 LYRM4 LYRM7 MADD MAGEL2 MAMLD1 MAP3K20 MAP3K7 MAPT MARS1 MAT2A MATR3 MCCC1 MCCC2 MCIDAS MCM3AP MCM4 MDFIC MECP2 MED12 MED25 MED27 MEFV MEG3 MEGF10 MESP2 MFAP5 MFN2 MGAT2 MGME1 MGP MIA3 MICOS13 MID1 MIF MINPP1 MIR140 MKRN3 MKRN3-AS1 MKS1 MLX MLYCD MMAA MMAB MMACHC MMP1 MMUT MOGS MORC2 MPC1 MPEG1 MPL MPLKIP MPV17 MPZ MRPL3 MRPS14 MRPS34 MS4A1 MS4A2 MSX1 MTFMT MTHFR MTM1 MTMR14 MTOR MTTP MUC5B MUC7 MUSK MYBPC1 MYBPC3 MYD88 MYF6 MYH11 MYH3 MYH6 MYH7 MYL1 MYL2 MYL3 MYLK MYMK MYO1H MYO9A MYOD1 MYOT MYOZ2 MYPN NAA10 NABP1 NACC1 NADK2 NAGS NALCN NAXE NBN NCF1 NCF2 NCF4 ND1 ND2 ND3 ND4 ND5 ND6 NDE1 NDN NDUFA1 NDUFA10 NDUFA11 NDUFA12 NDUFA13 NDUFA2 NDUFA4 NDUFA6 NDUFA8 NDUFA9 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF6 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB8 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NEB NECTIN1 NEFH NEK1 NEK10 NEK9 NEMF NF1 NF2 NFASC NFIX NFKB1 NFKB2 NFS1 NFU1 NGLY1 NHLRC2 NKX2-1 NKX2-5 NKX2-6 NLRP3 NME8 NOD2 NODAL NONO NOS1 NOTCH1 NOTCH2NLC NPAP1 NPC2 NPHP1 NPHS1 NPM1 NPPA NR1H4 NRXN1 NSF NSUN2 NTNG1 NUBPL NUMA1 NUP188 NUP214 NUP88 NUTM2B-AS1 OAS1 OCA2 OCRL ODAD1 ODAD2 ODAD3 ODAD4 ODC1 OFD1 OPA1 OPTN ORAI1 ORC1 ORC4 ORC6 OSTM1 OTX2 OXCT1 P4HA2 P4HTM PAM16 PANK2 PARN PAX2 PAX7 PAX8 PBX1 PCCA PCCB PCGF2 PCK1 PCSK9 PDE6D PDGFB PDHA1 PDSS1 PEPD PET100 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PFN1 PGM1 PGM3 PHOX2B PHYH PI4KA PIBF1 PIEZO1 PIEZO2 PIGA PIGN PIGT PIGY PIK3CA PIK3CD PIK3R1 PIP5K1C PKHD1 PKP2 PLA2G6 PLA2G7 PLAA PLAG1 PLAGL1 PLCB3 PLCB4 PLCG2 PLCH1 PLEC PLEKHG5 PLOD1 PLOD2 PLP1 PLPBP PLXND1 PML PMM2 PMP22 PNKD PNPLA2 POGLUT1 POGZ POLG POLG2 POLR1B POLR1C POLR1D POMK POMT1 POMT2 PON1 PON2 PON3 POR PPARGC1A PPCS PPOX PPP1R21 PRDM13 PRIM1 PRKAR1A PRKAR1B PRKCD PRKCSH PRKG1 PRMT7 PRNP PROC PROS1 PRPH PRPS1 PRR12 PRRT2 PRRX1 PRTN3 PRUNE1 PSAP PSAT1 PTCD3 PTCH1 PTEN PTF1A PTGER2 PTPN22 PTRH2 PUF60 PURA PWAR1 PWRN1 PYGM PYROXD1 RAC2 RAI1 RALGAPA1 RANBP2 RAPSN RARA RARS2 RBM10 RBPJ REEP1 RELN REN RERE RET RFC1 RFT1 RHAG RHCE RHD RIC1 RIPK1 RIPPLY2 RMRP RNASEH1 RNASEH2A RNF113A RNF125 RNF13 RNF168 RNF6 RNU4ATAC RPA1 RPGR RPGRIP1L RPL3L RPS26 RPS28 RPS6KA3 RREB1 RRM2B RSPH1 RSPH3 RSPH4A RSPH9 RTEL1 RTL1 RUNX2 RYR1 SARS2 SATB2 SBDS SBF2 SCARB2 SCARF2 SCGB3A2 SCN1B SCN2A SCN4A SCN5A SCN8A SCN9A SCNN1A SCNN1B SCNN1G SCO1 SCO2 SCYL2 SDCCAG8 SDHA SDHD SEC24C SEC31A SEC63 SELENON SEMA3E SEPSECS SEPTIN9 SERPINA1 SERPINC1 SERPING1 SERPINH1 SETBP1 SF3B4 SFTPA1 SFTPA2 SFTPB SFTPC SGCG SH2B3 SH3BP2 SH3TC2 SHH SHPK SIK1 SIK3 SIM1 SIN3A SIX3 SKI SLC11A1 SLC12A3 SLC12A6 SLC18A2 SLC18A3 SLC19A3 SLC1A3 SLC22A5 SLC25A1 SLC25A12 SLC25A15 SLC25A20 SLC25A21 SLC25A24 SLC25A26 SLC25A3 SLC25A4 SLC25A46 SLC26A2 SLC26A4 SLC26A9 SLC27A4 SLC29A3 SLC2A1 SLC2A10 SLC30A9 SLC34A2 SLC35A1 SLC37A4 SLC39A8 SLC41A1 SLC4A1 SLC52A2 SLC52A3 SLC5A7 SLC6A14 SLC6A5 SLC6A9 SLC7A7 SLC9A3 SMAD2 SMAD3 SMAD4 SMAD9 SMARCA2 SMARCAL1 SMARCB1 SMARCE1 SMC1A SMN1 SMO SMPD1 SMPD4 SNAP25 SNORD115-1 SNORD116-1 SNRPB SNRPN SNX10 SOD1 SON SOX9 SP110 SPAG1 SPEF2 SPEG SPG11 SPINK5 SPOP SPP1 SPTLC1 SPTLC2 SQSTM1 SREBF1 SRP54 SRPX2 SSR4 STAC3 STAG2 STAT1 STAT2 STAT3 STAT4 STAT5B STIL STIM1 STING1 STK36 STN1 STRA6 STT3B STX16 STX1A STXBP1 SUCLA2 SUCLG1 SUFU SURF1 SYNE1 SYNE2 SYT1 SYT2 TACO1 TAF15 TALDO1 TARDBP TARS1 TBC1D24 TBCD TBCK TBK1 TBL1XR1 TBR1 TBX1 TBX20 TBX21 TBX4 TCF3 TCF4 TCIRG1 TCOF1 TCTN1 TCTN2 TCTN3 TDGF1 TECPR2 TERC TERT TET2 TFG TGFB1 TGFB2 TGFB3 TGFBR1 TGFBR2 TGIF1 THBD THPO THSD4 TICAM1 TIMMDC1 TINF2 TK2 TLK2 TLL1 TLR3 TLR4 TMEM107 TMEM126B TMEM138 TMEM216 TMEM218 TMEM231 TMEM237 TMEM43 TMEM67 TMEM70 TNF TNFRSF13B TNFRSF13C TNFSF11 TNFSF12 TNNC1 TNNI3 TNNT1 TNNT2 TNPO3 TOE1 TOGARAM1 TOM1 TOPORS TOR1A TOR1AIP1 TP63 TP73 TPI1 TPM2 TPM3 TRAF3 TRAF3IP2 TRAF7 TRAIP TRAK1 TRAPPC11 TREM2 TRIM2 TRIP11 TRIP13 TRIP4 TRMT5 TRMU TRNE TRNF TRNH TRNK TRNL1 TRNL2 TRNN TRNQ TRNS1 TRNS2 TRNT TRNV TRNW TRPM4 TRPV4 TRPV6 TRRAP TSC1 TSC2 TSEN15 TSEN2 TSEN34 TSEN54 TSFM TSPYL1 TTC12 TTC21B TTC26 TTN TUBA1A TUBB4A TUFM TWIST1 TWNK TXNDC15 UBA1 UBAC2 UBE2A UBE3B UBQLN2 UFD1 UFM1 UNC13A UNC45A UNC45B UNC80 UNC93B1 UQCRC2 UQCRFS1 USP18 USP7 USP9X VAC14 VAMP1 VAPB VARS2 VCL VCP VHL VMA21 VPS33A VPS51 VRK1 WAC WAS WDR19 WDR35 WDR45B WFS1 WIPF1 WWOX XPNPEP2 XYLT1 XYLT2 YARS2 ZBTB16 ZBTB7A ZC4H2 ZFPM2 ZIC2 ZIC3 ZMPSTE24 ZMYM2 ZMYND10 ZNF148 ZNF423 ZNF699 ZSWIM6

Diseases (1309) :ORPHA:869 OMIM:619661 ORPHA:457 ORPHA:2032 ORPHA:70587 OMIM:610921 ORPHA:69665 ORPHA:51608 OMIM:264800 OMIM:619719 OMIM:614857 ORPHA:391665 ORPHA:42 ORPHA:26792 OMIM:610006 ORPHA:26793 OMIM:201475 ORPHA:171866 OMIM:612813 ORPHA:134 OMIM:267430 OMIM:618960 ORPHA:2971 OMIM:607944 ORPHA:171439 ORPHA:2020 ORPHA:171433 OMIM:255310 OMIM:161800 ORPHA:97244 ORPHA:171430 ORPHA:171436 ORPHA:91387 OMIM:613834 ORPHA:99103 OMIM:612098 OMIM:618654 ORPHA:337 OMIM:135100 ORPHA:774 OMIM:600376 ORPHA:137754 OMIM:102700 OMIM:617933 OMIM:274150 ORPHA:2136 ORPHA:2680 ORPHA:98889 ORPHA:404448 OMIM:618170 OMIM:600807 OMIM:619297 OMIM:616368 ORPHA:444077 ORPHA:90308 OMIM:212350 OMIM:619149 OMIM:615120 ORPHA:98913 ORPHA:98914 OMIM:618276 ORPHA:2254 ORPHA:88618 ORPHA:412069 OMIM:615829 ORPHA:475 OMIM:608629 ORPHA:220493 OMIM:300816 ORPHA:238329 ORPHA:963 ORPHA:2495 ORPHA:744 ORPHA:100924 OMIM:612740 ORPHA:75563 OMIM:620025 OMIM:266100 ORPHA:3006 ORPHA:79327 OMIM:619036 ORPHA:79328 ORPHA:64 OMIM:203800 OMIM:241500 OMIM:300373 ORPHA:803 OMIM:617050 ORPHA:261584 OMIM:617164 ORPHA:974 OMIM:100300 OMIM:612291 OMIM:618161 OMIM:209900 OMIM:617622 OMIM:253200 ORPHA:79345 ORPHA:567 OMIM:308350 ORPHA:333 OMIM:228000 OMIM:159950 ORPHA:2590 OMIM:616867 ORPHA:99803 OMIM:615574 OMIM:605039 ORPHA:97297 OMIM:618011 ORPHA:36386 OMIM:618494 OMIM:265400 ORPHA:2131 OMIM:619605 OMIM:619606 OMIM:616045 OMIM:615228 ORPHA:255210 ORPHA:79500 OMIM:211600 ORPHA:231401 ORPHA:100075 ORPHA:98755 ORPHA:98760 ORPHA:536467 ORPHA:93359 OMIM:612954 OMIM:614008 ORPHA:50251 ORPHA:132 OMIM:617936 OMIM:618092 ORPHA:520 ORPHA:661 OMIM:615290 OMIM:618291 ORPHA:169189 ORPHA:169186 OMIM:255200 ORPHA:125 OMIM:210900 ORPHA:33110 OMIM:617877 OMIM:608022 ORPHA:66637 OMIM:178600 OMIM:265450 OMIM:614299 ORPHA:54595 OMIM:618056 OMIM:614498 ORPHA:363400 ORPHA:79241 OMIM:253260 OMIM:300755 ORPHA:797 OMIM:612387 ORPHA:1052 ORPHA:289560 ORPHA:434179 ORPHA:117 OMIM:614379 ORPHA:2785 OMIM:615751 ORPHA:98784 OMIM:620029 OMIM:615474 ORPHA:369929 ORPHA:64280 ORPHA:681 ORPHA:423 OMIM:601887 ORPHA:79102 OMIM:617799 OMIM:251450 OMIM:619632 OMIM:617638 OMIM:618131 ORPHA:33364 OMIM:300749 OMIM:607271 ORPHA:428 OMIM:239200 ORPHA:220393 ORPHA:220402 OMIM:606721 OMIM:615343 ORPHA:394 OMIM:619111 OMIM:612285 ORPHA:1454 ORPHA:2318 OMIM:614679 ORPHA:244 OMIM:616816 OMIM:613807 OMIM:613808 OMIM:618268 OMIM:615504 OMIM:615872 ORPHA:1572 OMIM:308230 OMIM:226300 OMIM:619841 ORPHA:2554 OMIM:617360 ORPHA:3095 ORPHA:505652 OMIM:300672 ORPHA:397590 ORPHA:93925 ORPHA:93924 ORPHA:280200 ORPHA:93926 ORPHA:220386 OMIM:270300 ORPHA:586 ORPHA:474 OMIM:616300 OMIM:610188 OMIM:614114 OMIM:615500 OMIM:618063 OMIM:602271 OMIM:619607 OMIM:610687 OMIM:219700 ORPHA:60033 OMIM:616579 OMIM:254210 ORPHA:457050 ORPHA:138 OMIM:601462 OMIM:608930 OMIM:616314 OMIM:616321 OMIM:616322 OMIM:616323 OMIM:605809 OMIM:616324 OMIM:608931 ORPHA:2990 OMIM:265000 OMIM:143095 ORPHA:3463 ORPHA:99105 ORPHA:420492 ORPHA:1545 OMIM:619173 ORPHA:667 ORPHA:358 ORPHA:1334 ORPHA:445038 OMIM:616271 ORPHA:556955 OMIM:612540 OMIM:618186 ORPHA:163681 OMIM:610042 OMIM:616501 ORPHA:436271 ORPHA:263508 OMIM:608779 ORPHA:440354 ORPHA:2021 ORPHA:610 ORPHA:75840 OMIM:616470 OMIM:616720 ORPHA:1310 OMIM:166210 OMIM:259420 ORPHA:230851 ORPHA:1143 ORPHA:93296 OMIM:156550 OMIM:151210 ORPHA:93346 ORPHA:94068 OMIM:183900 ORPHA:286 ORPHA:1018 OMIM:158810 OMIM:254090 OMIM:255600 OMIM:603034 ORPHA:98915 OMIM:616414 ORPHA:227510 ORPHA:98933 OMIM:616276 OMIM:616733 OMIM:614654 ORPHA:550 OMIM:619053 ORPHA:255241 OMIM:612714 OMIM:619064 OMIM:619062 OMIM:619051 OMIM:300887 ORPHA:2556 OMIM:619059 OMIM:614615 ORPHA:2754 OMIM:121300 ORPHA:79273 ORPHA:147 ORPHA:228308 OMIM:600649 OMIM:608836 OMIM:180849 ORPHA:353281 ORPHA:353277 OMIM:272430 ORPHA:930 ORPHA:352479 OMIM:616052 ORPHA:399058 OMIM:608810 OMIM:613869 ORPHA:264675 OMIM:300770 OMIM:614370 OMIM:618870 OMIM:615636 ORPHA:397715 ORPHA:363611 ORPHA:900 OMIM:610127 ORPHA:763 OMIM:273750 ORPHA:621 OMIM:250800 ORPHA:379 OMIM:306400 OMIM:213700 ORPHA:137675 OMIM:600721 OMIM:616538 ORPHA:230 OMIM:105400 ORPHA:178509 OMIM:168605 ORPHA:2148 OMIM:619426 OMIM:608643 OMIM:271665 ORPHA:93352 OMIM:616871 OMIM:619573 ORPHA:98909 OMIM:601419 OMIM:618733 ORPHA:171703 OMIM:305000 ORPHA:268882 ORPHA:99977 ORPHA:254528 ORPHA:96334 ORPHA:2311 ORPHA:98896 OMIM:310200 ORPHA:589821 OMIM:160900 ORPHA:352470 OMIM:615156 OMIM:613193 OMIM:614935 OMIM:612518 OMIM:606763 OMIM:615482 OMIM:614874 OMIM:300991 OMIM:617577 OMIM:611884 OMIM:608644 OMIM:618300 OMIM:244400 OMIM:612444 OMIM:617091 OMIM:603511 OMIM:260400 OMIM:614017 ORPHA:36412 OMIM:614388 OMIM:615368 ORPHA:217390 OMIM:243700 ORPHA:994 OMIM:254300 OMIM:610768 OMIM:608093 ORPHA:459061 OMIM:620070 OMIM:608799 OMIM:615042 ORPHA:329178 ORPHA:1675 OMIM:615294 OMIM:610476 OMIM:612877 ORPHA:158687 OMIM:614653 OMIM:619847 ORPHA:239 ORPHA:93271 OMIM:615633 OMIM:617088 ORPHA:731 OMIM:616277 OMIM:305100 ORPHA:137888 ORPHA:90349 OMIM:610536 OMIM:605253 ORPHA:199241 OMIM:234810 OMIM:123700 OMIM:614457 OMIM:223900 ORPHA:98863 OMIM:187300 OMIM:208000 ORPHA:353284 OMIM:617300 ORPHA:90042 OMIM:607598 OMIM:615515 OMIM:601675 OMIM:617180 ORPHA:207 OMIM:231680 OMIM:619306 OMIM:614678 OMIM:616081 OMIM:618065 OMIM:610618 OMIM:188050 OMIM:301071 ORPHA:1832 ORPHA:466722 OMIM:619013 OMIM:613658 OMIM:614185 ORPHA:284979 ORPHA:2462 ORPHA:348 OMIM:229700 OMIM:619777 OMIM:615707 OMIM:618324 OMIM:301058 ORPHA:2396 ORPHA:2117 OMIM:166250 OMIM:207410 ORPHA:87 OMIM:123790 OMIM:123500 ORPHA:1555 ORPHA:93259 ORPHA:93260 ORPHA:794 ORPHA:15 OMIM:100800 OMIM:616482 ORPHA:93262 ORPHA:429 ORPHA:1860 ORPHA:93274 OMIM:187600 OMIM:187601 OMIM:300718 OMIM:300717 OMIM:300696 ORPHA:3472 OMIM:216340 ORPHA:2771 ORPHA:370968 OMIM:613153 OMIM:606612 OMIM:607155 OMIM:253800 OMIM:255100 OMIM:610883 OMIM:146700 ORPHA:555877 OMIM:305620 ORPHA:2484 OMIM:309350 OMIM:304120 ORPHA:56305 ORPHA:503 OMIM:272460 ORPHA:75249 OMIM:609524 OMIM:619991 ORPHA:319487 OMIM:265380 ORPHA:210122 OMIM:613454 ORPHA:705 OMIM:618699 ORPHA:391372 ORPHA:37042 ORPHA:2609 OMIM:618241 OMIM:158900 OMIM:618005 ORPHA:1136 OMIM:618823 OMIM:618822 OMIM:612541 ORPHA:308552 OMIM:232300 OMIM:617903 ORPHA:1945 ORPHA:206436 ORPHA:79237 OMIM:253000 OMIM:619042 OMIM:618449 OMIM:616726 ORPHA:3226 OMIM:614475 ORPHA:2140 ORPHA:2255 ORPHA:77259 ORPHA:77260 ORPHA:77261 OMIM:608013 OMIM:230800 OMIM:230900 ORPHA:2072 ORPHA:99948 OMIM:619887 OMIM:619518 ORPHA:98897 OMIM:600309 ORPHA:324 OMIM:301500 OMIM:253010 OMIM:611890 ORPHA:672 OMIM:149400 OMIM:618328 OMIM:610015 OMIM:220120 OMIM:272750 OMIM:615510 ORPHA:363623 OMIM:615352 OMIM:602483 ORPHA:624 ORPHA:3205 ORPHA:79443 ORPHA:94089 ORPHA:79444 OMIM:616973 OMIM:619503 OMIM:269921 ORPHA:3166 ORPHA:576 ORPHA:274 OMIM:312870 OMIM:300942 ORPHA:93317 ORPHA:96182 OMIM:616029 OMIM:619580 OMIM:619814 OMIM:618922 ORPHA:85448 ORPHA:444013 OMIM:253220 ORPHA:263297 OMIM:617662 OMIM:619950 OMIM:619967 ORPHA:746 OMIM:609015 ORPHA:231222 ORPHA:231214 ORPHA:231226 OMIM:603903 ORPHA:232 OMIM:619797 OMIM:261990 OMIM:176270 OMIM:613686 ORPHA:88639 ORPHA:397 ORPHA:29207 ORPHA:36426 ORPHA:3287 ORPHA:133 ORPHA:747 OMIM:181000 OMIM:253270 ORPHA:79242 ORPHA:79276 OMIM:176000 ORPHA:20 OMIM:606963 ORPHA:52430 ORPHA:352665 ORPHA:453504 OMIM:601536 OMIM:619026 OMIM:203300 OMIM:614073 OMIM:218040 ORPHA:90791 OMIM:612233 ORPHA:1865 ORPHA:800 OMIM:617248 OMIM:608647 ORPHA:96191 OMIM:615330 ORPHA:99646 ORPHA:217093 ORPHA:217085 OMIM:309900 OMIM:607015 OMIM:607016 OMIM:619773 ORPHA:805 OMIM:209950 OMIM:619471 OMIM:617102 OMIM:617895 ORPHA:183675 OMIM:604320 ORPHA:464 OMIM:612852 ORPHA:276 OMIM:147050 OMIM:619752 OMIM:619750 OMIM:619751 OMIM:213300 OMIM:617404 ORPHA:2746 OMIM:258480 OMIM:602088 OMIM:619472 ORPHA:93552 ORPHA:3452 ORPHA:141291 OMIM:255125 OMIM:613385 ORPHA:228426 OMIM:614748 OMIM:619574 OMIM:619566 OMIM:618999 OMIM:133100 ORPHA:71493 ORPHA:729 OMIM:613873 OMIM:616268 ORPHA:457193 ORPHA:85201 ORPHA:89844 ORPHA:37612 ORPHA:79644 OMIM:613485 ORPHA:435628 OMIM:615344 ORPHA:3202 ORPHA:306 ORPHA:1949 ORPHA:439218 OMIM:616490 OMIM:619479 ORPHA:93360 OMIM:617235 ORPHA:280785 ORPHA:79455 OMIM:615348 OMIM:615731 OMIM:617055 ORPHA:221139 ORPHA:2309 OMIM:215600 ORPHA:79155 ORPHA:258 OMIM:607855 ORPHA:79404 ORPHA:34587 ORPHA:319671 OMIM:617021 OMIM:617514 ORPHA:779 OMIM:619483 OMIM:614462 ORPHA:3206 OMIM:601559 ORPHA:235 OMIM:616299 OMIM:617668 ORPHA:98853 ORPHA:157973 OMIM:181350 ORPHA:740 OMIM:613205 OMIM:619793 OMIM:616165 ORPHA:495818 ORPHA:79243 ORPHA:77297 OMIM:614700 OMIM:164310 ORPHA:2924 ORPHA:70472 OMIM:220111 OMIM:619074 OMIM:618254 OMIM:617809 OMIM:615595 OMIM:615838 OMIM:619004 OMIM:619005 ORPHA:398069 ORPHA:98754 ORPHA:177901 ORPHA:177904 OMIM:615547 ORPHA:456328 OMIM:617760 OMIM:617137 ORPHA:240103 ORPHA:240085 OMIM:615486 OMIM:606070 ORPHA:600 OMIM:210200 ORPHA:6 OMIM:618695 OMIM:618124 OMIM:609981 OMIM:620014 OMIM:300673 OMIM:300055 OMIM:312750 ORPHA:778 ORPHA:93932 ORPHA:464738 OMIM:619286 OMIM:614399 OMIM:608681 OMIM:617087 ORPHA:79329 OMIM:615084 ORPHA:352447 OMIM:245150 ORPHA:85202 OMIM:619269 OMIM:618329 ORPHA:2745 OMIM:300000 OMIM:619527 OMIM:618618 OMIM:248360 OMIM:251100 OMIM:251110 ORPHA:79282 OMIM:251000 ORPHA:79312 ORPHA:289916 OMIM:606056 ORPHA:79330 ORPHA:466768 OMIM:614741 OMIM:619223 OMIM:256810 OMIM:607736 OMIM:618184 OMIM:614582 OMIM:618378 OMIM:617664 ORPHA:395 OMIM:310400 ORPHA:596 ORPHA:457485 ORPHA:14 OMIM:178500 OMIM:616325 OMIM:614915 OMIM:115197 OMIM:615396 ORPHA:33226 ORPHA:229 OMIM:619351 OMIM:613426 ORPHA:324604 ORPHA:1880 ORPHA:437572 OMIM:608358 OMIM:255160 OMIM:618414 OMIM:608758 OMIM:619424 OMIM:608751 OMIM:254940 OMIM:619482 OMIM:618198 OMIM:618975 ORPHA:266 OMIM:613838 ORPHA:171881 OMIM:617336 OMIM:300855 OMIM:617393 ORPHA:500545 ORPHA:431361 ORPHA:927 OMIM:237310 OMIM:616266 ORPHA:371364 OMIM:617186 ORPHA:647 OMIM:618243 OMIM:618236 OMIM:618235 OMIM:618253 OMIM:619272 OMIM:618247 OMIM:618233 ORPHA:70474 OMIM:618240 OMIM:618913 OMIM:618776 OMIM:619003 OMIM:301021 OMIM:618252 OMIM:618226 OMIM:618228 OMIM:618230 OMIM:252010 OMIM:618232 OMIM:618224 OMIM:618222 OMIM:618225 OMIM:619334 ORPHA:399103 OMIM:256030 OMIM:617892 ORPHA:2751 OMIM:618781 OMIM:614262 OMIM:619099 ORPHA:97685 OMIM:618356 ORPHA:447980 OMIM:602535 OMIM:616576 OMIM:615577 OMIM:619386 OMIM:605711 ORPHA:404454 OMIM:615273 OMIM:618278 ORPHA:209905 OMIM:610978 ORPHA:871 ORPHA:3384 ORPHA:575 OMIM:610852 ORPHA:90340 OMIM:617321 ORPHA:466791 OMIM:616028 OMIM:607625 ORPHA:220497 OMIM:256300 ORPHA:1344 OMIM:615745 OMIM:614325 OMIM:619340 OMIM:618804 OMIM:618426 OMIM:618637 OMIM:618042 ORPHA:534 OMIM:615067 OMIM:615451 OMIM:616037 OMIM:617092 ORPHA:544488 OMIM:616896 OMIM:613435 OMIM:612782 OMIM:224690 OMIM:613803 OMIM:259720 ORPHA:990 OMIM:245050 OMIM:618493 OMIM:613320 ORPHA:216866 OMIM:616371 ORPHA:97362 OMIM:618578 OMIM:218700 OMIM:617641 OMIM:606054 OMIM:618371 OMIM:261680 OMIM:312170 OMIM:614651 OMIM:170100 OMIM:214100 ORPHA:912 OMIM:614883 OMIM:214110 OMIM:616716 OMIM:614862 ORPHA:773 OMIM:215100 OMIM:614921 OMIM:615816 ORPHA:443811 OMIM:209880 OMIM:617767 OMIM:108145 OMIM:617146 OMIM:300868 ORPHA:447 ORPHA:280633 ORPHA:369837 OMIM:615399 OMIM:616809 OMIM:611369 OMIM:609040 ORPHA:35069 OMIM:617527 ORPHA:521426 OMIM:618961 OMIM:614669 OMIM:614468 OMIM:226670 ORPHA:254361 OMIM:611067 OMIM:225400 ORPHA:1900 OMIM:312080 ORPHA:280210 ORPHA:99015 OMIM:617290 ORPHA:79318 ORPHA:90658 ORPHA:640 ORPHA:98810 ORPHA:565612 OMIM:617232 OMIM:616364 ORPHA:468678 ORPHA:254892 OMIM:258450 OMIM:607459 OMIM:618939 ORPHA:861 OMIM:615249 ORPHA:86812 OMIM:613156 OMIM:618189 ORPHA:79473 OMIM:619383 OMIM:619909 OMIM:620005 ORPHA:615 OMIM:619680 OMIM:174050 ORPHA:464288 OMIM:600072 ORPHA:745 OMIM:612304 OMIM:176860 ORPHA:743 OMIM:614514 OMIM:612336 ORPHA:1187 ORPHA:423479 OMIM:619539 OMIM:202650 ORPHA:544469 ORPHA:139406 OMIM:611722 OMIM:610992 OMIM:619057 OMIM:609069 OMIM:208550 ORPHA:456312 ORPHA:508488 OMIM:616158 ORPHA:438216 ORPHA:314655 ORPHA:368 OMIM:617258 OMIM:618986 ORPHA:1713 OMIM:618797 ORPHA:88619 OMIM:618388 OMIM:616326 OMIM:611523 ORPHA:2886 OMIM:620011 OMIM:616975 OMIM:614575 OMIM:612015 ORPHA:71275 OMIM:618761 OMIM:618108 ORPHA:175 ORPHA:329336 OMIM:616479 OMIM:610333 OMIM:616260 ORPHA:544503 ORPHA:420741 OMIM:226960 ORPHA:2636 OMIM:210710 OMIM:619767 OMIM:611560 OMIM:619371 OMIM:613309 OMIM:606164 ORPHA:192 OMIM:612075 OMIM:615481 OMIM:616481 OMIM:612649 OMIM:612650 OMIM:616373 OMIM:119600 ORPHA:1452 ORPHA:324581 ORPHA:597 ORPHA:98905 ORPHA:424107 ORPHA:466650 OMIM:255320 OMIM:613845 OMIM:612313 ORPHA:251028 ORPHA:99956 OMIM:600920 OMIM:607745 ORPHA:682 OMIM:614198 ORPHA:99734 ORPHA:99735 OMIM:608390 OMIM:168300 ORPHA:684 OMIM:113900 OMIM:272120 OMIM:167400 ORPHA:171876 OMIM:619048 OMIM:604377 OMIM:615993 OMIM:613642 ORPHA:100093 OMIM:618651 OMIM:602771 ORPHA:2524 ORPHA:2901 OMIM:613490 OMIM:613118 ORPHA:82 ORPHA:100050 OMIM:613848 ORPHA:798 ORPHA:245 OMIM:619611 ORPHA:217563 OMIM:265120 OMIM:610913 OMIM:253700 ORPHA:184 ORPHA:99949 ORPHA:440713 OMIM:616341 OMIM:618162 ORPHA:398079 OMIM:613406 OMIM:182212 ORPHA:3389 OMIM:218000 ORPHA:352649 OMIM:617239 ORPHA:263410 OMIM:212140 OMIM:615182 OMIM:612949 ORPHA:415 ORPHA:159 OMIM:212138 OMIM:618811 OMIM:612289 OMIM:616794 ORPHA:91130 OMIM:610773 OMIM:615418 OMIM:617184 OMIM:616505 OMIM:619303 OMIM:600972 OMIM:256050 ORPHA:628 OMIM:608649 ORPHA:88621 OMIM:602782 ORPHA:71277 ORPHA:3342 OMIM:617595 OMIM:265100 ORPHA:60025 ORPHA:238459 ORPHA:79259 OMIM:232240 ORPHA:468699 OMIM:619468 OMIM:614707 OMIM:211530 OMIM:211500 OMIM:617143 OMIM:614618 OMIM:617301 ORPHA:470 OMIM:222700 OMIM:139210 OMIM:615342 ORPHA:2728 OMIM:242900 ORPHA:1830 OMIM:253300 ORPHA:77293 OMIM:607616 OMIM:618622 OMIM:616330 ORPHA:1393 OMIM:117650 ORPHA:177907 ORPHA:500150 ORPHA:140 OMIM:114290 ORPHA:718 ORPHA:79124 OMIM:615505 OMIM:615959 OMIM:602099 OMIM:256500 ORPHA:634 OMIM:618828 OMIM:618829 OMIM:158310 OMIM:300934 OMIM:255995 ORPHA:168572 ORPHA:391487 OMIM:614162 OMIM:618886 ORPHA:2314 OMIM:245590 OMIM:160565 OMIM:615934 OMIM:619436 OMIM:601186 OMIM:615597 ORPHA:370924 OMIM:612073 ORPHA:17 OMIM:245400 OMIM:220110 OMIM:618484 OMIM:612999 OMIM:618218 ORPHA:522077 OMIM:619461 OMIM:606003 ORPHA:101028 OMIM:612069 ORPHA:496641 OMIM:617193 OMIM:616900 ORPHA:488632 ORPHA:1930 ORPHA:1617 OMIM:188400 OMIM:619630 ORPHA:261279 OMIM:610954 ORPHA:2896 ORPHA:320385 OMIM:615031 OMIM:614742 ORPHA:98826 ORPHA:90117 OMIM:614486 OMIM:619825 OMIM:613990 OMIM:609560 ORPHA:254875 OMIM:618050 ORPHA:99106 OMIM:617563 OMIM:608091 OMIM:619562 OMIM:614970 OMIM:610688 OMIM:614052 ORPHA:1194 OMIM:613243 ORPHA:98902 OMIM:605355 OMIM:115195 OMIM:608423 OMIM:614969 OMIM:618947 OMIM:617072 OMIM:619466 OMIM:615512 OMIM:609285 OMIM:609284 OMIM:618164 OMIM:616777 OMIM:618201 ORPHA:369847 OMIM:615490 ORPHA:166272 OMIM:184260 ORPHA:486815 OMIM:617066 OMIM:616866 OMIM:616539 ORPHA:254864 ORPHA:2596 ORPHA:1349 ORPHA:663 ORPHA:254857 OMIM:606071 OMIM:156530 OMIM:181405 OMIM:618188 OMIM:618454 ORPHA:538 ORPHA:166063 OMIM:225753 OMIM:610505 OMIM:608800 ORPHA:168593 OMIM:618801 OMIM:619534 ORPHA:178464 OMIM:603689 ORPHA:98805 OMIM:610678 OMIM:619879 ORPHA:1145 OMIM:301830 ORPHA:163956 OMIM:244450 ORPHA:2707 OMIM:617899 OMIM:619377 OMIM:619178 OMIM:615160 OMIM:618775 OMIM:617397 ORPHA:500055 OMIM:616863 OMIM:300968 ORPHA:480880 OMIM:615917 OMIM:613255 ORPHA:329478 OMIM:613954 ORPHA:435387 OMIM:263400 OMIM:310440 ORPHA:505248 OMIM:617303 OMIM:618606 OMIM:607596 ORPHA:466950 ORPHA:906 OMIM:614376 OMIM:617977 ORPHA:411590 ORPHA:100057 OMIM:615777 OMIM:613561 OMIM:619769 OMIM:314580 OMIM:306955 OMIM:619522 OMIM:615444 OMIM:617260 OMIM:619488 OMIM:603671 ORPHA:1827

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

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