Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	AARS1 CL E G H	16	20	OMIM:619661	LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS 2; HDLS2
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	ABCA3 CL E G H	21	33	ORPHA:2032	Idiopathic pulmonary fibrosis		147
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	ABCA3 CL E G H	21	33	ORPHA:70587	Infant acute respiratory distress syndrome		147
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	ABCA3 CL E G H	21	33	OMIM:610921	Surfactant metabolism dysfunction, pulmonary, 3		147
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy		415
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	ABCC9 CL E G H	10060	60	OMIM:619719	INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS		254
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type		53
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	ABCG5 CL E G H	64240	13886	ORPHA:391665	Homozygous familial hypercholesterolemia		67
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	ABCG8 CL E G H	64241	13887	ORPHA:391665	Homozygous familial hypercholesterolemia		76
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency		197
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	ACADS CL E G H	35	90	ORPHA:26792	Short chain acyl-CoA dehydrogenase deficiency		90
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	ACADSB CL E G H	36	91	OMIM:610006	2-Methylbutyryl-Coa dehydrogenase deficiency		111
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency		200
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	ACADVL CL E G H	37	92	OMIM:201475	Very long-chain acyl-CoA dehydrogenase deficiency		200
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	ACAT1 CL E G H	38	93	ORPHA:134	Beta-ketothiolase deficiency		91
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	ACTA1 CL E G H	58	129	ORPHA:171436	Typical nemaline myopathy		96
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	ACTA2 CL E G H	59	130	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		94
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	ACTA2 CL E G H	59	130	OMIM:613834	Multisystemic smooth muscle dysfunction syndrome		94
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	ACTC1 CL E G H	70	143	ORPHA:99103	Atrial septal defect, ostium secundum type		208
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	ACTC1 CL E G H	70	143	OMIM:612098	Cardiomyopathy, familial hypertrophic, 11		208
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2		178
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	ACY1 CL E G H	95	177	ORPHA:137754	Neurological conditions associated with aminoacylase 1 deficiency		13
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	ADAM22 CL E G H	53616	201	OMIM:617933	Epileptic encephalopathy, early infantile, 61
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	ADAMTS13 CL E G H	11093	1366	OMIM:274150	Thrombotic thrombocytopenic purpura, hereditary		129
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	ADCY6 CL E G H	112	237	ORPHA:2680	Hypomyelination neuropathy-arthrogryposis syndrome		2
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria		88
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome		47
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome		6
HP:0002793	HP:0002793	Abnormal pattern of respiration	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:0002793	HP:0002793	Abnormal pattern of respiration	0	AGO2 CL E G H	27161	3263	OMIM:619149	LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		127
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes		127
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome		36
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	AHDC1 CL E G H	27245	25230	OMIM:615829	Xia-Gibbs syndrome		36
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	AHI1 CL E G H	54806	21575	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	175
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	AHI1 CL E G H	54806	21575	OMIM:608629	Joubert syndrome 3		175
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	AHI1 CL E G H	54806	21575	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040281 - Very frequent	175
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	AIFM1 CL E G H	9131	8768	ORPHA:238329	Severe X-linked mitochondrial encephalomyopathy		60
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	AIP CL E G H	9049	358	ORPHA:963	Acromegaly		95
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		1
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	ALAS2 CL E G H	212	397	ORPHA:75563	X-linked sideroblastic anemia		72
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome		404
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	ALPL CL E G H	249	438	OMIM:241500	Hypophosphatasia, infantile		126
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis		34
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	ANG CL E G H	283	483	ORPHA:803	Amyotrophic lateral sclerosis		32
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	ANXA11 CL E G H	311	535	ORPHA:803	Amyotrophic lateral sclerosis
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	AP3D1 CL E G H	8943	568	OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10; HPS10		1
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	APOB CL E G H	338	603	ORPHA:391665	Homozygous familial hypercholesterolemia		356
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	ARCN1 CL E G H	372	649	OMIM:617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay		3
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	ARL13B CL E G H	200894	25419	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	62
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	ARL13B CL E G H	200894	25419	OMIM:612291	JOUBERT SYNDROME 8; JBTS8		62
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	ARL3 CL E G H	403	694	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	1
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	ARL3 CL E G H	403	694	OMIM:618161	JOUBERT SYNDROME 35; JBTS35		1
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	ARMC9 CL E G H	80210	20730	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	ARMC9 CL E G H	80210	20730	OMIM:617622	JOUBERT SYNDROME 30; JBTS30
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI		120
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	ARX CL E G H	170302	18060	OMIM:308350	Developmental and epileptic encephalopathy 1		166
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease		78
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	ASCL1 CL E G H	429	738	ORPHA:99803	Haddad syndrome		15
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome		145
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies		16
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	ATP11A CL E G H	23250	13552	ORPHA:2032	Idiopathic pulmonary fibrosis
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	ATP13A3 CL E G H	79572	24113	OMIM:265400	Pulmonary hypertension, primary, autosomal recessive
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood		239
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	ATP1A2 CL E G H	477	800	OMIM:619605	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98; DEE98		239
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood		150
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	ATP1A3 CL E G H	478	801	OMIM:619606	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99		150
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	ATP5F1A CL E G H	498	823	OMIM:615228	Mitochondrial complex V (atp synthase) deficiency, nuclear type 4
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome		5
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	ATRX CL E G H	546	886	ORPHA:231401	Alpha-thalassemia-myelodysplastic syndrome		169
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	ATXN2 CL E G H	6311	10555	ORPHA:803	Amyotrophic lateral sclerosis		11
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome		38
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	B9D1 CL E G H	27077	24123	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	28
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	B9D2 CL E G H	80776	28636	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	34
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome		22
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	BAP1 CL E G H	8314	950	ORPHA:50251	Pleural mesothelioma		184
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	BCHE CL E G H	590	983	OMIM:617936	BUTYRYLCHOLINESTERASE DEFICIENCY; BCHED		67
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	BCOR CL E G H	54880	20893	ORPHA:520	Acute promyelocytic leukemia		101
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant		46
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	BMP2 CL E G H	650	1069	OMIM:617877	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies		13
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS		78
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	BMPER CL E G H	168667	24154	ORPHA:66637	Diaphanospondylodysostosis		78
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	BMPR2 CL E G H	659	1078	OMIM:178600	Pulmonary hypertension, primary, 1		525
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	BOLA3 CL E G H	388962	24415	OMIM:614299	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia		14
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma		276
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	BRAT1 CL E G H	221927	21701	OMIM:618056	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures		20
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	BRAT1 CL E G H	221927	21701	OMIM:614498	Rigidity and multifocal seizure syndrome, lethal neonatal		20
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	BTD CL E G H	686	1122	ORPHA:79241	Biotinidase deficiency		223
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	BTD CL E G H	686	1122	OMIM:253260	Biotinidase deficiencymultiple carboxylase deficiency, late-onset		223
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis		1
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	BTNL2 CL E G H	56244	1142	OMIM:612387	Sarcoidosis, susceptibility to, 2		1
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome		5
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome		76
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14		27
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	C9ORF72 CL E G H	203228	28337	ORPHA:803	Amyotrophic lateral sclerosis		56
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis		29
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	CA5A CL E G H	763	1377	OMIM:615751	Hyperammonemia due to carbonic anhydrase VA deficiency		10
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	CABP4 CL E G H	57010	1386	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy		94
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood		449
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	CACNA1C CL E G H	775	1390	OMIM:620029			572
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	CACNA1H CL E G H	8912	1395	ORPHA:64280	Childhood absence epilepsy		75
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	CACNA1S CL E G H	779	1397	ORPHA:423	Malignant hyperthermia of anesthesia		247
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia		118
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	CASR CL E G H	846	1514	ORPHA:428	Autosomal dominant hypocalcemia	HP:0040282 - Frequent	272
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	CASR CL E G H	846	1514	OMIM:239200	Hyperparathyroidism, neonatal severe		272
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	CAV1 CL E G H	857	1527	ORPHA:220393	Diffuse cutaneous systemic sclerosis		11
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	CAV1 CL E G H	857	1527	OMIM:615343	Pulmonary hypertension, primary, 3		11
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	CBY1 CL E G H	25776	1307	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	1
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	CC2D2A CL E G H	57545	29253	OMIM:619111	COACH SYNDROME 2; COACH2		247
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	CC2D2A CL E G H	57545	29253	OMIM:612285	Joubert syndrome 9		247
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040281 - Very frequent	247
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	CC2D2A CL E G H	57545	29253	ORPHA:2318	Joubert syndrome with oculorenal defect		247
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	CCN2 CL E G H	1490	2500	ORPHA:220393	Diffuse cutaneous systemic sclerosis
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	CCNF CL E G H	899	1591	ORPHA:803	Amyotrophic lateral sclerosis
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	CCR6 CL E G H	1235	1607	ORPHA:220393	Diffuse cutaneous systemic sclerosis
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome		9
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome		31
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder		8
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	CDKL5 CL E G H	6792	11411	ORPHA:3095	Atypical Rett syndrome	HP:0040281 - Very frequent	405
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	CDKL5 CL E G H	6792	11411	OMIM:300672	Developmental and epileptic encephalopathy 2		405
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	200
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	200
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	200
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	200
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome		50
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	CEP104 CL E G H	9731	24866	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	5
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	CEP120 CL E G H	153241	26690	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	7
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	CEP120 CL E G H	153241	26690	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040281 - Very frequent	7
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	CEP290 CL E G H	80184	29021	OMIM:610188	Joubert syndrome 5		342
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	CEP290 CL E G H	80184	29021	ORPHA:2318	Joubert syndrome with oculorenal defect		342
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	CEP41 CL E G H	95681	12370	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	90
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	CEP41 CL E G H	95681	12370	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040281 - Very frequent	90
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome		17
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2		17
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	CFAP410 CL E G H	755	1260	ORPHA:803	Amyotrophic lateral sclerosis
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	CFL2 CL E G H	1073	1875	ORPHA:171436	Typical nemaline myopathy		35
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	CFTR CL E G H	1080	1884	ORPHA:60033	Idiopathic bronchiectasis		1371
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40		16
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	CHAT CL E G H	1103	1912	OMIM:254210	Myasthenic syndrome, congenital, 6, presynaptic		65
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes		65
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	CHCHD10 CL E G H	400916	15559	ORPHA:803	Amyotrophic lateral sclerosis		11
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	CHMP2B CL E G H	25978	24537	ORPHA:803	Amyotrophic lateral sclerosis		42
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		74
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	CHRNA2 CL E G H	1135	1956	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy		188
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	CHRNA4 CL E G H	1137	1958	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy		225
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		53
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	CHRNB2 CL E G H	1141	1962	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy		88
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		88
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	CHRNE CL E G H	1145	1966	OMIM:605809	Myasthenic syndrome, congenital, 4A, slow-channel		139
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		139
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	CISD2 CL E G H	493856	24212	ORPHA:3463	Wolfram syndrome		3
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	CITED2 CL E G H	10370	1987	ORPHA:99103	Atrial septal defect, ostium secundum type		5
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	CITED2 CL E G H	10370	1987	ORPHA:99105	Atrial septal defect, sinus venosus type		5
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	CIZ1 CL E G H	25792	16744	ORPHA:420492	Adult-onset cervical dystonia, DYT23 type		16
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis		102
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome		27
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia		38
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	CNTNAP1 CL E G H	8506	8011	ORPHA:2680	Hypomyelination neuropathy-arthrogryposis syndrome		9
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy		518
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	CNTNAP2 CL E G H	26047	13830	OMIM:610042	Pitt-Hopkins-Like syndrome 1		518
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	COA6 CL E G H	388753	18025	OMIM:616501	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 4; CEMCOX4		8
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy		65
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	COL12A1 CL E G H	1303	2188	OMIM:616470	ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2; UCMD2		65
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		6
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes		6
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome		243
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	COL25A1 CL E G H	84570	18603	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita		3
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia		284
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type		284
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	COL2A1 CL E G H	1280	2200	OMIM:183900	Spondyloepiphyseal dysplasia congenita		284
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome		749
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	COL4A5 CL E G H	1287	2207	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis		678
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	COL4A6 CL E G H	1288	2208	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis		18
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy		442
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1		442
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy		478
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1		478
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy		702
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1		702
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes		90
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	COPA CL E G H	1314	2230	OMIM:616414	AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE; AILJK		5
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	COQ2 CL E G H	27235	25223	ORPHA:227510	Multiple system atrophy, cerebellar type		54
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	COQ2 CL E G H	27235	25223	ORPHA:98933	Multiple system atrophy, parkinsonian type		54
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	COQ7 CL E G H	10229	2244	OMIM:616733	Coenzyme Q10 deficiency, primary, 8		1
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	COX15 CL E G H	1355	2263	ORPHA:255241	Leigh syndrome with leukodystrophy		104
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome		6
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	CPLANE1 CL E G H	65250	25801	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	CPLANE1 CL E G H	65250	25801	OMIM:614615	Joubert syndrome 17
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	CPLANE1 CL E G H	65250	25801	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal		101
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion		291
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations		291
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	CRH CL E G H	1392	2355	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy		1
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	CRLF1 CL E G H	9244	2364	OMIM:272430	Crisponi/cold-induced sweating syndrome 1		24
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	CRYAB CL E G H	1410	2389	OMIM:613869	Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related		46
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	CSF2RA CL E G H	1438	2435	ORPHA:264675	Hereditary pulmonary alveolar proteinosis		15
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	CSF2RA CL E G H	1438	2435	OMIM:300770	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4; SMDP4		15
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	CSF2RB CL E G H	1439	2436	ORPHA:264675	Hereditary pulmonary alveolar proteinosis		17
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	CSF2RB CL E G H	1439	2436	OMIM:614370	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5; SMDP5		17
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	CSPP1 CL E G H	79848	26193	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	57
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	CSPP1 CL E G H	79848	26193	OMIM:615636	Joubert syndrome 21		57
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		57
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma		88
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	CTSD CL E G H	1509	2529	OMIM:610127	Ceroid lipofuscinosis, neuronal, 10		159
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis	HP:0040283 - Occasional	39
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	CYB5A CL E G H	1528	2570	ORPHA:621	Hereditary methemoglobinemia		2
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	CYB5R3 CL E G H	1727	2873	ORPHA:621	Hereditary methemoglobinemia		24
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	CYB5R3 CL E G H	1727	2873	OMIM:250800	Methemoglobinemia due to deficiency of methemoglobin reductase		24
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	CYTB CL E G H	4519	7427	ORPHA:137675	Histiocytoid cardiomyopathy
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	D2HGDH CL E G H	728294	28358	OMIM:600721	D-2-Hydroxyglutaric aciduria 1		102
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	DAO CL E G H	1610	2671	ORPHA:803	Amyotrophic lateral sclerosis
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	DBH CL E G H	1621	2689	ORPHA:230	Dopamine beta-hydroxylase deficiency		80
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	DCTN1 CL E G H	1639	2711	ORPHA:803	Amyotrophic lateral sclerosis		86
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	DCTN1 CL E G H	1639	2711	OMIM:105400	Amyotrophic lateral sclerosis 1		86
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	DCTN1 CL E G H	1639	2711	ORPHA:178509	Perry syndrome		86
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	DCTN1 CL E G H	1639	2711	OMIM:168605	Perry syndrome		86
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	DDC CL E G H	1644	2719	OMIM:608643	Aromatic L-amino acid decarboxylase deficiency		43
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	DEPDC5 CL E G H	9681	18423	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy		172
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	DHX16 CL E G H	8449	2739	OMIM:618733	NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	DISC1 CL E G H	27185	2888	ORPHA:171703	Microcephaly-polymicrogyria-corpus callosum agenesis syndrome		2
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	22
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	22
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	22
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	22
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	3
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	3
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	3
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	3
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	DMD CL E G H	1756	2928	OMIM:310200	Duchenne muscular dystrophy		1496
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	DMPK CL E G H	1760	2933	OMIM:160900	Myotonic dystrophy 1		152
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	DNA2 CL E G H	1763	2939	ORPHA:352470	DNA2-related mitochondrial DNA deletion syndrome		41
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	DNA2 CL E G H	1763	2939	OMIM:615156	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 6		41
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	DNAAF3 CL E G H	352909	30492	OMIM:606763	Ciliary dyskinesia, primary, 2		63
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	DNAJB6 CL E G H	10049	14888	OMIM:603511	Muscular dystrophy, limb-girdle, type 1E		103
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1		5
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	DNASE1L3 CL E G H	1776	2959	ORPHA:36412	Hypocomplementemic urticarial vasculitis		3
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		91
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	DPAGT1 CL E G H	1798	2995	OMIM:608093	Congenital disorder of glycosylation, type Ij		38
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome		3
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE		27
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	DPM2 CL E G H	8818	3006	OMIM:615042	Congenital disorder of glycosylation, type Iu		26
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy		26
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	DPP9 CL E G H	91039	18648	ORPHA:2032	Idiopathic pulmonary fibrosis
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	DSC2 CL E G H	1824	3036	OMIM:610476	Arrhythmogenic right ventricular dysplasia, familial, 11		268
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	DSG2 CL E G H	1829	3049	OMIM:612877	CARDIOMYOPATHY, DILATED, 1BB; CMD1BB		358
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	DSP CL E G H	1832	3052	ORPHA:2032	Idiopathic pulmonary fibrosis		747
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	DST CL E G H	667	1090	OMIM:614653	Neuropathy, hereditary sensory and autonomic, type VI		108
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	DYNC2LI1 CL E G H	51626	24595	OMIM:617088	Short-rib thoracic dysplasia 15 with polydactyly		7
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease		4
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	ECHS1 CL E G H	1892	3151	ORPHA:255241	Leigh syndrome with leukodystrophy		33
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	ECHS1 CL E G H	1892	3151	OMIM:616277	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency		33
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked		115
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	EDN1 CL E G H	1906	3176	ORPHA:137888	Auriculocondylar syndrome		6
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type		48
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	EIF2AK4 CL E G H	440275	19687	ORPHA:199241	Pulmonary capillary hemangiomatosis		40
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	EIF2AK4 CL E G H	440275	19687	OMIM:234810	PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD2		40
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	ELN CL E G H	2006	3327	OMIM:123700	Cutis laxa, autosomal dominant 1		172
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	ELN CL E G H	2006	3327	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		172
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1		186
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy		151
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	EOMES CL E G H	8320	3372	ORPHA:171703	Microcephaly-polymicrogyria-corpus callosum agenesis syndrome		7
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency		250
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	EPHA4 CL E G H	2043	3388	ORPHA:803	Amyotrophic lateral sclerosis		4
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	EPHB4 CL E G H	2050	3395	OMIM:617300	Lymphatic malformation 7		3
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	EPOR CL E G H	2057	3416	ORPHA:90042	Primary familial polycythemia		43
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	ERBB4 CL E G H	2066	3432	ORPHA:803	Amyotrophic lateral sclerosis		15
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	ERF CL E G H	2077	3444	OMIM:617180	Chitayat syndrome		12
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	ERGIC1 CL E G H	57222	29205	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	ETFA CL E G H	2108	3481	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency		37
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	ETFB CL E G H	2109	3482	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency		27
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	ETFDH CL E G H	2110	3483	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency		77
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	EXOC2 CL E G H	55770	24968	OMIM:619306	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH		1
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	FAM13A CL E G H	10144	19367	ORPHA:2032	Idiopathic pulmonary fibrosis
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	FAM149B1 CL E G H	317662	29162	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	FAM20C CL E G H	56975	22140	ORPHA:1832	Lethal osteosclerotic bone dysplasia		35
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	FARS2 CL E G H	10667	21062	ORPHA:466722	Autosomal recessive spastic paraplegia type 77		36
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	FBN1 CL E G H	2200	3603	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		1361
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome		1361
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	FBP1 CL E G H	2203	3606	OMIM:229700	Fructose-1,6-Bisphosphatase deficiency		64
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	FBP1 CL E G H	2203	3606	ORPHA:348	Fructose-1,6-bisphosphatase deficiency		64
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	FGF13 CL E G H	2258	3670	OMIM:301058	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE90		1
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	17
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	17
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	17
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	17
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	172
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia		172
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	172
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome		175
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	FGFR2 CL E G H	2263	3689	OMIM:123500	Crouzon syndrome		175
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	FGFR2 CL E G H	2263	3689	ORPHA:1555	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome		175
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	FGFR2 CL E G H	2263	3689	ORPHA:93259	Pfeiffer syndrome type 2		175
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	FGFR2 CL E G H	2263	3689	ORPHA:93260	Pfeiffer syndrome type 3		175
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome		175
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA		145
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	FGFR3 CL E G H	2261	3690	ORPHA:15	Achondroplasia		145
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	FGFR3 CL E G H	2261	3690	OMIM:616482	Achondroplasia, severe, with developmental delay and acanthosis nigricans		145
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	FGFR3 CL E G H	2261	3690	ORPHA:429	Hypochondroplasia		145
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome		145
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	FIG4 CL E G H	9896	16873	ORPHA:803	Amyotrophic lateral sclerosis		111
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	FIP1L1 CL E G H	81608	19124	ORPHA:520	Acute promyelocytic leukemia		4
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	FKRP CL E G H	79147	17997	OMIM:607155	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5		157
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	FLCN CL E G H	201163	27310	OMIM:610883	Potocki-Lupski syndrome		332
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	FLNA CL E G H	2316	3754	ORPHA:555877	FLNA-related X-linked myxomatous valvular dysplasia		493
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	FLNC CL E G H	2318	3756	ORPHA:75249	Familial isolated restrictive cardiomyopathy		197
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	FOXE3 CL E G H	2301	3808	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		23
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia		61
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	48
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	48
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	48
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	48
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome		32
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	FOXRED1 CL E G H	55572	26927	ORPHA:255241	Leigh syndrome with leukodystrophy		61
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	FUS CL E G H	2521	4010	ORPHA:803	Amyotrophic lateral sclerosis		105
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	FUZ CL E G H	80199	26219	ORPHA:1136	Arnold-Chiari malformation type II		3
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	FXR1 CL E G H	8087	4023	OMIM:618823	MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS; MYOPMIL
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	FXR1 CL E G H	8087	4023	OMIM:618822	MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES; MYORIBF
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	GAA CL E G H	2548	4065	ORPHA:308552	Glycogen storage disease due to acid maltase deficiency, infantile onset		407
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	GAA CL E G H	2548	4065	OMIM:232300	Glycogen storage disease II		407
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	GABBR2 CL E G H	9568	4507	ORPHA:3095	Atypical Rett syndrome	HP:0040281 - Very frequent	5
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	GABBR2 CL E G H	9568	4507	OMIM:617903	Neurodevelopmental disorder with poor language and loss of hand skills		5
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	GABRA1 CL E G H	2554	4075	ORPHA:64280	Childhood absence epilepsy		134
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	GABRB3 CL E G H	2562	4083	ORPHA:64280	Childhood absence epilepsy		57
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	GABRG2 CL E G H	2566	4087	ORPHA:64280	Childhood absence epilepsy		139
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	GABRG2 CL E G H	2566	4087	ORPHA:1945	Rolandic epilepsy		139
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease		160
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	2
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	2
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	2
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	2
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	GATA4 CL E G H	2626	4173	ORPHA:99103	Atrial septal defect, ostium secundum type		87
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	GATA6 CL E G H	2627	4174	ORPHA:99103	Atrial septal defect, ostium secundum type		37
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	GATA6 CL E G H	2627	4174	ORPHA:2140	Congenital diaphragmatic hernia		37
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome		37
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	GBA1 CL E G H	2629	4177	ORPHA:77260	Gaucher disease type 2	HP:0040281 - Very frequent
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	GBA1 CL E G H	2629	4177	OMIM:230800	Gaucher disease, type I
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	GBA1 CL E G H	2629	4177	OMIM:230900	Gaucher disease, type II
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease		291
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	GLE1 CL E G H	2733	4315	ORPHA:803	Amyotrophic lateral sclerosis		45
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	173
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	173
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	173
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	173
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	GLRA1 CL E G H	2741	4326	OMIM:149400	Hyperekplexia 1		63
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	GLT8D1 CL E G H	55830	24870	ORPHA:803	Amyotrophic lateral sclerosis
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	GLUL CL E G H	2752	4341	OMIM:610015	GLUTAMINE DEFICIENCY, CONGENITAL		98
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome		3
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	GNA11 CL E G H	2767	4379	ORPHA:428	Autosomal dominant hypocalcemia	HP:0040282 - Frequent	16
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	GNAI3 CL E G H	2773	4387	ORPHA:137888	Auriculocondylar syndrome		2
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	GNAI3 CL E G H	2773	4387	OMIM:602483	Auriculocondylar syndrome 1		2
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A		101
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	GNAS CL E G H	2778	4392	ORPHA:94089	Pseudohypoparathyroidism type 1B		101
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C		101
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA		173
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria		173
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II		240
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	GPHN CL E G H	10243	15465	OMIM:149400	Hyperekplexia 1		18
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly		5
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	GPR101 CL E G H	83550	14963	OMIM:300942	Chromosome Xq26.3 duplication syndrome		5
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
HP:0002793	HP:0002793	Abnormal pattern of respiration	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:0002793	HP:0002793	Abnormal pattern of respiration	0	GRIN1 CL E G H	2902	4584	OMIM:619814	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 101; DEE101		108
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	GRIN2A CL E G H	2903	4585	ORPHA:1945	Rolandic epilepsy		434
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis		53
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	GTPBP3 CL E G H	84705	14880	ORPHA:444013	Combined oxidative phosphorylation defect type 23		30
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII		54
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	GYG1 CL E G H	2992	4699	ORPHA:263297	Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency		18
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	HACD1 CL E G H	9200	9639	OMIM:619967			2
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major		580
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia		580
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome		11
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	HDAC4 CL E G H	9759	14063	OMIM:619797	NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF		33
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	HEPHL1 CL E G H	341208	30477	OMIM:261990	PILI TORTI AND DEVELOPMENTAL DELAY
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome		38
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	HEY2 CL E G H	23493	4881	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	HLA-B CL E G H	3106	4932	ORPHA:36426	Stevens-Johnson syndrome		4
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	HLA-B CL E G H	3106	4932	ORPHA:3287	Takayasu arteritis	HP:0040282 - Frequent	4
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	HLA-DPB1 CL E G H	3115	4940	ORPHA:133	Chronic beryllium disease		1
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:747	Autoimmune pulmonary alveolar proteinosis		2
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:220393	Diffuse cutaneous systemic sclerosis		2
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis		2
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1		2
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	HLCS CL E G H	3141	4976	ORPHA:79242	Holocarboxylase synthetase deficiency		148
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	HLCS CL E G H	3141	4976	OMIM:253270	Holocarboxylase synthetase deficiency		148
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria		35
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	HNRNPA1 CL E G H	3178	5031	ORPHA:803	Amyotrophic lateral sclerosis		31
HP:0002793	HP:0002793	Abnormal pattern of respiration	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:0002793	HP:0002793	Abnormal pattern of respiration	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:0002793	HP:0002793	Abnormal pattern of respiration	0	HOXA1 CL E G H	3198	5099	OMIM:601536	ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME; ABDS		34
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome		113
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	HSPD1 CL E G H	3329	5261	OMIM:612233	Leukodystrophy, hypomyelinating, 4		46
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome		345
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	HTRA2 CL E G H	27429	14348	OMIM:617248	3-methylglutaconic aciduria, type VIII		39
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	HYLS1 CL E G H	219844	26558	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	31
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria		15
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form		86
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form		86
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II		86
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome		115
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	IDUA CL E G H	3425	5391	OMIM:607016	Scheie syndrome		115
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	IFIH1 CL E G H	64135	18873	OMIM:619773	IMMUNODEFICIENCY 95; IMD95		28
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex		23
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	IFT52 CL E G H	51098	15901	OMIM:617102	Short-Rib thoracic dysplasia 16 with or without polydactyly		4
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	IFT81 CL E G H	28981	14313	OMIM:617895	Short-Rib thoracic dysplasia 19 with or without polydactyly		2
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1		209
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	IKZF1 CL E G H	10320	13176	ORPHA:36426	Stevens-Johnson syndrome		8
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	IL12B CL E G H	3593	5970	ORPHA:3287	Takayasu arteritis	HP:0040282 - Frequent	31
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	IL1RN CL E G H	3557	6000	OMIM:612852	Interleukin 1 receptor antagonist deficiency		40
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	IL6ST CL E G H	3572	6021	OMIM:619751	STUVE-WIEDEMANN SYNDROME 2; STWS2
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	INPP5E CL E G H	56623	21474	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	111
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1		111
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040281 - Very frequent	111
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	INPP5E CL E G H	56623	21474	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040281 - Very frequent	111
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	IRAK1 CL E G H	3654	6112	ORPHA:93552	Pediatric systemic lupus erythematosus
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	IRF2BP2 CL E G H	359948	21729	ORPHA:520	Acute promyelocytic leukemia		4
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	IRF5 CL E G H	3663	6120	ORPHA:220393	Diffuse cutaneous systemic sclerosis		4
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	IRF6 CL E G H	3664	6121	ORPHA:141291	Cleft lip and alveolus	HP:0040282 - Frequent	99
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	ISCU CL E G H	23479	29882	OMIM:255125	Myopathy with exercise intolerance, Swedish type		19
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	ITGA3 CL E G H	3675	6139	OMIM:614748	Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital		6
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	JAK2 CL E G H	3717	6192	OMIM:133100	Erythrocytosis, familial, 1		57
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	JPH2 CL E G H	57158	14202	OMIM:613873	Cardiomyopathy, familial hypertrophic, 17		111
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	JRK CL E G H	8629	6199	ORPHA:64280	Childhood absence epilepsy
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome		141
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	KATNB1 CL E G H	10300	6217	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type		10
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	KATNIP CL E G H	23247	29068	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	KCNA1 CL E G H	3736	6218	ORPHA:37612	Episodic ataxia type 1		145
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	KCNJ11 CL E G H	3767	6257	ORPHA:79644	Autosomal recessive hyperinsulinism due to Kir6.2 deficiency		127
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome		3
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	KCNQ2 CL E G H	3785	6296	ORPHA:306	Benign familial infantile epilepsy		528
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	KCNQ2 CL E G H	3785	6296	ORPHA:1949	Benign familial neonatal epilepsy		528
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	KCNQ2 CL E G H	3785	6296	ORPHA:439218	KCNQ2-related epileptic encephalopathy		528
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	KCNQ3 CL E G H	3786	6297	ORPHA:306	Benign familial infantile epilepsy		302
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	KCNQ3 CL E G H	3786	6297	ORPHA:1949	Benign familial neonatal epilepsy		302
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	KCNT1 CL E G H	57582	18865	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy		321
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	KIAA0586 CL E G H	9786	19960	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	24
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	KIAA0586 CL E G H	9786	19960	OMIM:616490	Joubert syndrome 23		24
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		24
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	KIAA0753 CL E G H	9851	29110	ORPHA:2754	Orofaciodigital syndrome type 6		4
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	KIF20A CL E G H	10112	9787	ORPHA:75249	Familial isolated restrictive cardiomyopathy
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	KIF5A CL E G H	3798	6323	OMIM:617235	Myoclonus, intractable, neonatal		93
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	KIF7 CL E G H	374654	30497	ORPHA:2754	Orofaciodigital syndrome type 6		167
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	KIT CL E G H	3815	6342	ORPHA:79455	Cutaneous mastocytoma		327
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	KLHL41 CL E G H	10324	16905	ORPHA:171436	Typical nemaline myopathy		13
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	KLHL7 CL E G H	55975	15646	OMIM:617055	Crisponi/cold-Induced sweating syndrome 3		42
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	KRT16 CL E G H	3868	6423	ORPHA:2309	Pachyonychia congenita		27
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	KRT17 CL E G H	3872	6427	ORPHA:2309	Pachyonychia congenita		23
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	KRT6A CL E G H	3853	6443	ORPHA:2309	Pachyonychia congenita		41
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	KRT6B CL E G H	3854	6444	ORPHA:2309	Pachyonychia congenita		4
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy		411
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa		116
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes		92
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa		167
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa		135
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	LARP7 CL E G H	51574	24912	ORPHA:319671	Alazami syndrome		16
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	LBX1 CL E G H	10660	16960	OMIM:619483	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 3; CCHS3
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	LDLR CL E G H	3949	6547	ORPHA:391665	Homozygous familial hypercholesterolemia		2157
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	LDLRAP1 CL E G H	26119	18640	ORPHA:391665	Homozygous familial hypercholesterolemia		73
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	LGI4 CL E G H	163175	18712	ORPHA:2680	Hypomyelination neuropathy-arthrogryposis syndrome		6
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	LIAS CL E G H	11019	16429	OMIM:614462	Hyperglycinemia, lactic acidosis, and seizures		31
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome		144
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome		144
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	LIPT1 CL E G H	51601	29569	ORPHA:255241	Leigh syndrome with leukodystrophy		21
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	LMNA CL E G H	4000	6636	OMIM:181350	Emery-Dreifuss muscular dystrophy 2, autosomal dominant		645
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome		645
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	LMNA CL E G H	4000	6636	OMIM:619793	RESTRICTIVE DERMOPATHY 2; RSDM2		645
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	LMOD3 CL E G H	56203	6649	ORPHA:171436	Typical nemaline myopathy		11
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	LONP1 CL E G H	9361	9479	ORPHA:2140	Congenital diaphragmatic hernia		8
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	LOX CL E G H	4015	6664	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		6
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	LRP4 CL E G H	4038	6696	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		124
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	LRPPRC CL E G H	10128	15714	ORPHA:70472	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type		191
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	LRPPRC CL E G H	10128	15714	OMIM:220111	Leigh syndrome, french Canadian type		191
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	LRRC32 CL E G H	2615	4161	OMIM:619074	CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY; CPPRDD
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	LTBP3 CL E G H	4054	6716	OMIM:617809	Geleophysic dysplasia 3		12
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	LYRM4 CL E G H	57128	21365	OMIM:615595	Combined oxidative phosphorylation deficiency 19		4
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8		10
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome		63
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome		63
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15		63
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1		63
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2		63
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome		63
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	MAPT CL E G H	4137	6893	ORPHA:240103	Progressive supranuclear palsy-corticobasal syndrome		140
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	MAPT CL E G H	4137	6893	ORPHA:240085	Progressive supranuclear palsy-parkinsonism syndrome		140
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	MARS1 CL E G H	4141	6898	OMIM:615486	Interstitial lung and liver disease
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	MAT2A CL E G H	4144	6904	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		13
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	MATR3 CL E G H	9782	6912	ORPHA:803	Amyotrophic lateral sclerosis		80
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	MCCC1 CL E G H	56922	6936	OMIM:210200	3-Methylcrotonyl-CoA carboxylase 1 deficiency		81
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	MCM3AP CL E G H	8888	6946	OMIM:618124	Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development		3
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	MECP2 CL E G H	4204	6990	ORPHA:3095	Atypical Rett syndrome	HP:0040281 - Very frequent	950
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	MECP2 CL E G H	4204	6990	OMIM:300673	Encephalopathy, neonatal severe, due to mecp2 mutations		950
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13		950
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	MECP2 CL E G H	4204	6990	OMIM:312750	Rett syndrome		950
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	MECP2 CL E G H	4204	6990	ORPHA:778	Rett syndrome	HP:0040281 - Very frequent	950
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	MED27 CL E G H	9442	2377	OMIM:619286	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	MEGF10 CL E G H	84466	29634	OMIM:614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset		158
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	MFAP5 CL E G H	8076	29673	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		11
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG		39
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	MGME1 CL E G H	92667	16205	OMIM:615084	Mitochondrial DNA depletion syndrome 11		11
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	MGME1 CL E G H	92667	16205	ORPHA:352447	Progressive external ophthalmoplegia-myopathy-emaciation syndrome		11
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	MINPP1 CL E G H	9562	7102	OMIM:619527	PONTOCEREBELLAR HYPOPLASIA, TYPE 16; PCH16		3
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome		5
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	MKS1 CL E G H	54903	7121	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	127
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	MKS1 CL E G H	54903	7121	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040281 - Very frequent	127
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	MLX CL E G H	6945	11645	ORPHA:3287	Takayasu arteritis	HP:0040282 - Frequent
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	MMAA CL E G H	166785	18871	OMIM:251100	Methylmalonic aciduria, Cbla type		113
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	MMAB CL E G H	326625	19331	OMIM:251110	Methylmalonic aciduria, Cblb type		127
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC		101
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	MMUT CL E G H	4594	7526	OMIM:251000	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	MMUT CL E G H	4594	7526	ORPHA:79312	Vitamin B12-unresponsive methylmalonic acidemia type mut-
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	MMUT CL E G H	4594	7526	ORPHA:289916	Vitamin B12-unresponsive methylmalonic acidemia type mut0
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	MOGS CL E G H	7841	24862	OMIM:606056	Congenital disorder of glycosylation, type IIB		37
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG		37
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	MPC1 CL E G H	51660	21606	OMIM:614741	Mitochondrial pyruvate carrier deficiency		6
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy		56
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	MRPL3 CL E G H	11222	10379	OMIM:614582	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD9		13
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	MRPS34 CL E G H	65993	16618	OMIM:617664	Combined oxidative phosphorylation deficiency 32		1
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	MSX1 CL E G H	4487	7391	ORPHA:141291	Cleft lip and alveolus	HP:0040282 - Frequent	12
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	MTFMT CL E G H	123263	29666	ORPHA:255241	Leigh syndrome with leukodystrophy		29
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	MTHFR CL E G H	4524	7436	ORPHA:395	Homocystinuria due to methylene tetrahydrofolate reductase deficiency		183
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	MTM1 CL E G H	4534	7448	ORPHA:596	X-linked centronuclear myopathy		185
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	MUC5B CL E G H	727897	7516	ORPHA:2032	Idiopathic pulmonary fibrosis		133
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	MUC5B CL E G H	727897	7516	OMIM:178500	Pulmonary fibrosis, idiopathic		133
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	MUSK CL E G H	4593	7525	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		72
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	MYBPC3 CL E G H	4607	7551	OMIM:115197	Cardiomyopathy, familial hypertrophic, 4		1143
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	MYH11 CL E G H	4629	7569	ORPHA:229	Familial aortic dissection		418
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	MYH11 CL E G H	4629	7569	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		418
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	MYH6 CL E G H	4624	7576	ORPHA:99103	Atrial septal defect, ostium secundum type		452
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	MYH7 CL E G H	4625	7577	ORPHA:324604	Classic multiminicore myopathy		1269
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive		1269
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	MYL1 CL E G H	4632	7582	OMIM:618414	Myopathy, congenital, with fast-twitch (type ii) fiber atrophy
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	MYL2 CL E G H	4633	7583	OMIM:608758	Cardiomyopathy, familial hypertrophic, 10		131
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	MYL3 CL E G H	4634	7584	OMIM:608751	Cardiomyopathy, familial hypertrophic, 8		95
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	MYLK CL E G H	4638	7590	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		326
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	MYO1H CL E G H	283446	13879	OMIM:619482	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	MYO9A CL E G H	4649	7608	OMIM:618198	Myasthenic syndrome, congenital, 24, presynaptic
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	MYOZ2 CL E G H	51778	1330	OMIM:613838	Cardiomyopathy, familial hypertrophic, 16		81
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	MYPN CL E G H	84665	23246	ORPHA:171881	Cap myopathy		217
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	MYPN CL E G H	84665	23246	ORPHA:75249	Familial isolated restrictive cardiomyopathy		217
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	NABP1 CL E G H	64859	26232	ORPHA:520	Acute promyelocytic leukemia
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	NACC1 CL E G H	112939	20967	OMIM:617393	Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination		1
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	NACC1 CL E G H	112939	20967	ORPHA:500545	Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract		1
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	NADK2 CL E G H	133686	26404	ORPHA:431361	Progressive encephalopathy with leukodystrophy due to DECR deficiency		14
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	NAGS CL E G H	162417	17996	ORPHA:927	Hyperammonemia due to N-acetylglutamate synthase deficiency		36
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	NAGS CL E G H	162417	17996	OMIM:237310	N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY		36
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome		48
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	NAXE CL E G H	128240	18453	OMIM:617186	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1		9
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	NDE1 CL E G H	54820	17619	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type		96
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	NDUFA10 CL E G H	4705	7684	ORPHA:255241	Leigh syndrome with leukodystrophy		91
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	NDUFA11 CL E G H	126328	20371	OMIM:618236	Mitochondrial complex I deficiency, nuclear type 14		32
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	NDUFA12 CL E G H	55967	23987	ORPHA:255241	Leigh syndrome with leukodystrophy		7
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	NDUFA13 CL E G H	51079	17194	ORPHA:255241	Leigh syndrome with leukodystrophy		3
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	NDUFA2 CL E G H	4695	7685	ORPHA:255241	Leigh syndrome with leukodystrophy		19
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	NDUFA2 CL E G H	4695	7685	OMIM:618235	Mitochondrial complex I deficiency, nuclear type 13		19
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	NDUFA4 CL E G H	4697	7687	ORPHA:255241	Leigh syndrome with leukodystrophy		4
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33		1
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	NDUFA8 CL E G H	4702	7692	OMIM:619272	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	NDUFA9 CL E G H	4704	7693	ORPHA:255241	Leigh syndrome with leukodystrophy		27
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	NDUFAF2 CL E G H	91942	28086	ORPHA:255241	Leigh syndrome with leukodystrophy		26
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	NDUFAF2 CL E G H	91942	28086	OMIM:618233	Mitochondrial complex I deficiency, nuclear type 10		26
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy		31
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	NDUFAF5 CL E G H	79133	15899	ORPHA:255241	Leigh syndrome with leukodystrophy		34
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	NDUFAF6 CL E G H	137682	28625	ORPHA:255241	Leigh syndrome with leukodystrophy		39
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome		3
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	NDUFS1 CL E G H	4719	7707	ORPHA:255241	Leigh syndrome with leukodystrophy		81
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	NDUFS1 CL E G H	4719	7707	OMIM:618226	Mitochondrial complex I deficiency, nuclear type 5		81
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy		65
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	NDUFS2 CL E G H	4720	7708	ORPHA:255241	Leigh syndrome with leukodystrophy		65
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	NDUFS3 CL E G H	4722	7710	ORPHA:255241	Leigh syndrome with leukodystrophy		22
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	NDUFS4 CL E G H	4724	7711	ORPHA:255241	Leigh syndrome with leukodystrophy		27
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1		27
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	NDUFS6 CL E G H	4726	7713	OMIM:618232	Mitochondrial complex I deficiency, nuclear type 9		21
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	NDUFS7 CL E G H	374291	7714	ORPHA:255241	Leigh syndrome with leukodystrophy		38
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	NDUFS8 CL E G H	4728	7715	ORPHA:255241	Leigh syndrome with leukodystrophy		42
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	NDUFS8 CL E G H	4728	7715	OMIM:618222	Mitochondrial complex I deficiency, nuclear type 2		42
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	NDUFV1 CL E G H	4723	7716	ORPHA:255241	Leigh syndrome with leukodystrophy		74
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	NDUFV1 CL E G H	4723	7716	OMIM:618225	Mitochondrial complex I deficiency, nuclear type 4		74
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	NDUFV2 CL E G H	4729	7717	ORPHA:255241	Leigh syndrome with leukodystrophy		27
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	NEB CL E G H	4703	7720	ORPHA:399103	Distal nebulin myopathy		745
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive		745
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	NEB CL E G H	4703	7720	ORPHA:171436	Typical nemaline myopathy		745
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	NECTIN1 CL E G H	5818	9706	ORPHA:141291	Cleft lip and alveolus	HP:0040282 - Frequent	4
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	NEFH CL E G H	4744	7737	ORPHA:803	Amyotrophic lateral sclerosis		24
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	NEFH CL E G H	4744	7737	OMIM:105400	Amyotrophic lateral sclerosis 1		24
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	NEK1 CL E G H	4750	7744	ORPHA:803	Amyotrophic lateral sclerosis		101
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2		101
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	NEMF CL E G H	9147	10663	OMIM:619099	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND AXONAL PERIPHERAL NEUROPATHY; IDDSAPN		1
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome		32
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation		32
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	NHLRC2 CL E G H	374354	24731	OMIM:618278	Fibrosis, neurodegeneration, and cerebral angiomatosis
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome		51
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	NKX2-1 CL E G H	7080	11825	OMIM:610978	Choreoathetosis, hypothyroidism, and neonatal respiratory distress		51
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	NKX2-5 CL E G H	1482	2488	ORPHA:99103	Atrial septal defect, ostium secundum type		90
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	NKX2-5 CL E G H	1482	2488	ORPHA:871	Familial progressive cardiac conduction defect		90
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	NKX2-6 CL E G H	137814	32940	ORPHA:3384	Truncus arteriosus		3
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome		187
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	45
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	45
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	45
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	45
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome		10
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome		1
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	NPHP1 CL E G H	4867	7905	ORPHA:220497	Joubert syndrome with renal defect	HP:0040281 - Very frequent	85
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	NPM1 CL E G H	4869	7910	ORPHA:520	Acute promyelocytic leukemia		12
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	NPPA CL E G H	4878	7939	ORPHA:1344	Atrial standstill		13
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	NPPA CL E G H	4878	7939	OMIM:615745	Atrial standstill 2		13
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	NRXN1 CL E G H	9378	8008	OMIM:614325	Pitt-Hopkins-Like syndrome 2		470
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	NTNG1 CL E G H	22854	23319	ORPHA:3095	Atypical Rett syndrome	HP:0040281 - Very frequent	1
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	NUMA1 CL E G H	4926	8059	ORPHA:520	Acute promyelocytic leukemia
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	NUP214 CL E G H	8021	8064	OMIM:618426	Encephalopathy, acute, infection-induced, susceptibility to, 9		1
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15		121
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1		121
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2		121
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	OFD1 CL E G H	8481	2567	ORPHA:2754	Orofaciodigital syndrome type 6		201
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	OPA1 CL E G H	4976	8140	OMIM:616896	MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE); MTDPS14		214
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	OPTN CL E G H	10133	17142	ORPHA:803	Amyotrophic lateral sclerosis		62
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome		53
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1		53
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome		21
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome		39
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3		39
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	OTX2 CL E G H	5015	8522	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome		41
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	OXCT1 CL E G H	5019	8527	OMIM:245050	Succinyl CoA:3-oxoacid CoA transferase deficiency		52
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	PAM16 CL E G H	51025	29679	OMIM:613320	Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type		1
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	PARN CL E G H	5073	8609	ORPHA:2032	Idiopathic pulmonary fibrosis		26
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	PCCA CL E G H	5095	8653	OMIM:606054	Propionic acidemia		96
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	PCCB CL E G H	5096	8654	OMIM:606054	Propionic acidemia		92
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	PCK1 CL E G H	5105	8724	OMIM:261680	Phosphoenolpyruvate carboxykinase deficiency, cytosolic		53
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	PCSK9 CL E G H	255738	20001	ORPHA:391665	Homozygous familial hypercholesterolemia		178
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	PDE6D CL E G H	5147	8788	ORPHA:2754	Orofaciodigital syndrome type 6		1
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	PDHA1 CL E G H	5160	8806	ORPHA:255241	Leigh syndrome with leukodystrophy		88
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	PDHA1 CL E G H	5160	8806	OMIM:312170	Pyruvate dehydrogenase e1-alpha deficiency		88
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	PET100 CL E G H	100131801	40038	ORPHA:255241	Leigh syndrome with leukodystrophy		6
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	PEX13 CL E G H	5194	8855	OMIM:614883	Peroxisome biogenesis disorder 11A (Zellweger)		66
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)		99
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	PFN1 CL E G H	5216	8881	ORPHA:803	Amyotrophic lateral sclerosis		6
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It		58
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	PHOX2B CL E G H	8929	9143	OMIM:209880	Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease		86
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	PHOX2B CL E G H	8929	9143	ORPHA:99803	Haddad syndrome		86
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria		11
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	PIBF1 CL E G H	10464	23352	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	4
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	PIBF1 CL E G H	10464	23352	OMIM:617767	Joubert syndrome 33		4
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria		46
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome		12
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	PIGT CL E G H	51604	14938	OMIM:615399	Paroxysmal nocturnal hemoglobinuria 2		12
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease		563
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	PKP2 CL E G H	5318	9024	OMIM:609040	Arrhythmogenic right ventricular dysplasia, familial, 9		406
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy		133
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies		3
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder		3
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	PLCB4 CL E G H	5332	9059	ORPHA:137888	Auriculocondylar syndrome		82
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	PLCB4 CL E G H	5332	9059	OMIM:614669	Auriculocondylar syndrome 2		82
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	PLEC CL E G H	5339	9069	ORPHA:254361	Plectin-related limb-girdle muscular dystrophy R17		759
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	PLPBP CL E G H	11212	9457	OMIM:617290	Epilepsy, early-onset, vitamin b6-dependent		6
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	PLXND1 CL E G H	23129	9107	ORPHA:3384	Truncus arteriosus
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	PML CL E G H	5371	9113	ORPHA:520	Acute promyelocytic leukemia		3
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG		150
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	PNKD CL E G H	25953	9153	ORPHA:98810	Paroxysmal non-kinesigenic dyskinesia		66
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	PNPLA2 CL E G H	57104	30802	ORPHA:565612	Triglyceride deposit cardiomyovasculopathy		65
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome		35
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome		35
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		464
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		45
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	POMT1 CL E G H	10585	9202	ORPHA:86812	POMT1-related limb-girdle muscular dystrophy R11		213
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	PON1 CL E G H	5444	9204	ORPHA:803	Amyotrophic lateral sclerosis		4
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	PON2 CL E G H	5445	9205	ORPHA:803	Amyotrophic lateral sclerosis		2
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	PON3 CL E G H	5446	9206	ORPHA:803	Amyotrophic lateral sclerosis		1
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	PPARGC1A CL E G H	10891	9237	ORPHA:803	Amyotrophic lateral sclerosis		1
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	PRKAR1A CL E G H	5573	9388	ORPHA:520	Acute promyelocytic leukemia		134
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	PRKAR1A CL E G H	5573	9388	ORPHA:615	Familial atrial myxoma		134
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	PRKAR1B CL E G H	5575	9390	OMIM:619680	MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS		2
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	PRKCSH CL E G H	5589	9411	OMIM:174050	Polycystic liver disease 1 with or without kidney cysts		63
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	PRKG1 CL E G H	5592	9414	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		41
HP:0002793	HP:0002793	Abnormal pattern of respiration	0	PRMT7 CL