Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

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

Grandparent Node:
Abnormal respiratory system physiology (HP:0002795)

Parent Node:
Dyspnea (HP:0002094)

..Starting node
..Respiratory distress (HP:0002098)

Term ID:

2098

Name:

Respiratory distress

Synonym:

Breathing difficulties; Labored breathing; Respiratory difficulties

Definition:

Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea.

Comments:

Reference:

HP:0002098

Genes and Diseases:

Child Nodes:

........

Episodic respiratory distress (HP:0004885)

........

Nasal flaring (HP:0030863)

........

Intercostal retractions (HP:0030864)

Sister Nodes:

Exertional dyspnea (HP:0002875)

Orthopnea (HP:0012764)

Paroxysmal dyspnea (HP:0012763)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002098	HP:0002098	Respiratory distress	0	ABCA3 CL E G H	21	33	ORPHA:70587	Infant acute respiratory distress syndrome			147
HP:0002098	HP:0002098	Respiratory distress	0	ABCA3 CL E G H	21	33	OMIM:610921	Surfactant metabolism dysfunction, pulmonary, 3			147
HP:0002098	HP:0002098	Respiratory distress	0	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040282 - Frequent		415
HP:0002098	HP:0002098	Respiratory distress	0	ACADS CL E G H	35	90	ORPHA:26792	Short chain acyl-CoA dehydrogenase deficiency	HP:0040283 - Occasional		90
HP:0002098	HP:0002098	Respiratory distress	0	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency	HP:0040283 - Occasional		200
HP:0002098	HP:0002098	Respiratory distress	0	ADAMTS13 CL E G H	11093	1366	OMIM:274150	Thrombotic thrombocytopenic purpura, hereditary	HP:0040283 - Occasional		129
HP:0002098	HP:0002098	Respiratory distress	0	ADCY6 CL E G H	112	237	ORPHA:2680	Hypomyelination neuropathy-arthrogryposis syndrome	HP:0040281 - Very frequent		2
HP:0002098	HP:0002098	Respiratory distress	0	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome	HP:0040284 - Very rare		47
HP:0002098	HP:0002098	Respiratory distress	0	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes			127
HP:0002098	HP:0002098	Respiratory distress	0	AIFM1 CL E G H	9131	8768	ORPHA:238329	Severe X-linked mitochondrial encephalomyopathy	HP:0040282 - Frequent		60
HP:0002098	HP:0002098	Respiratory distress	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040283 - Occasional		404
HP:0002098	HP:0002098	Respiratory distress	0	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease	HP:0040283 - Occasional		78
HP:0002098	HP:0002098	Respiratory distress	0	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional		239
HP:0002098	HP:0002098	Respiratory distress	0	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional		150
HP:0002098	HP:0002098	Respiratory distress	0	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002098	HP:0002098	Respiratory distress	0	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040283 - Occasional		5
HP:0002098	HP:0002098	Respiratory distress	0	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040283 - Occasional		38
HP:0002098	HP:0002098	Respiratory distress	0	BAP1 CL E G H	8314	950	ORPHA:50251	Pleural mesothelioma	HP:0040282 - Frequent		184
HP:0002098	HP:0002098	Respiratory distress	0	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS	.		78
HP:0002098	HP:0002098	Respiratory distress	0	BMPER CL E G H	168667	24154	ORPHA:66637	Diaphanospondylodysostosis	HP:0040281 - Very frequent		78
HP:0002098	HP:0002098	Respiratory distress	0	BOLA3 CL E G H	388962	24415	OMIM:614299	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia			14
HP:0002098	HP:0002098	Respiratory distress	0	BTD CL E G H	686	1122	ORPHA:79241	Biotinidase deficiency	HP:0040283 - Occasional		223
HP:0002098	HP:0002098	Respiratory distress	0	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional		449
HP:0002098	HP:0002098	Respiratory distress	0	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent		9
HP:0002098	HP:0002098	Respiratory distress	0	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent		31
HP:0002098	HP:0002098	Respiratory distress	0	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent		50
HP:0002098	HP:0002098	Respiratory distress	0	CHAT CL E G H	1103	1912	OMIM:254210	Myasthenic syndrome, congenital, 6, presynaptic	.		65
HP:0002098	HP:0002098	Respiratory distress	0	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes			65
HP:0002098	HP:0002098	Respiratory distress	0	CHRNE CL E G H	1145	1966	OMIM:605809	Myasthenic syndrome, congenital, 4A, slow-channel	.		139
HP:0002098	HP:0002098	Respiratory distress	0	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare		27
HP:0002098	HP:0002098	Respiratory distress	0	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia			38
HP:0002098	HP:0002098	Respiratory distress	0	CNTNAP1 CL E G H	8506	8011	ORPHA:2680	Hypomyelination neuropathy-arthrogryposis syndrome	HP:0040281 - Very frequent		9
HP:0002098	HP:0002098	Respiratory distress	0	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes			6
HP:0002098	HP:0002098	Respiratory distress	0	COL25A1 CL E G H	84570	18603	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040283 - Occasional		3
HP:0002098	HP:0002098	Respiratory distress	0	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia	.		284
HP:0002098	HP:0002098	Respiratory distress	0	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type			284
HP:0002098	HP:0002098	Respiratory distress	0	COL2A1 CL E G H	1280	2200	OMIM:183900	Spondyloepiphyseal dysplasia congenita	.		284
HP:0002098	HP:0002098	Respiratory distress	0	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040282 - Frequent		90
HP:0002098	HP:0002098	Respiratory distress	0	COQ7 CL E G H	10229	2244	OMIM:616733	Coenzyme Q10 deficiency, primary, 8			1
HP:0002098	HP:0002098	Respiratory distress	0	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional		6
HP:0002098	HP:0002098	Respiratory distress	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0002098	HP:0002098	Respiratory distress	0	CSF2RA CL E G H	1438	2435	ORPHA:264675	Hereditary pulmonary alveolar proteinosis	HP:0040282 - Frequent		15
HP:0002098	HP:0002098	Respiratory distress	0	CSF2RB CL E G H	1439	2436	ORPHA:264675	Hereditary pulmonary alveolar proteinosis	HP:0040282 - Frequent		17
HP:0002098	HP:0002098	Respiratory distress	0	DHX16 CL E G H	8449	2739	OMIM:618733	NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0002098	HP:0002098	Respiratory distress	0	DISC1 CL E G H	27185	2888	ORPHA:171703	Microcephaly-polymicrogyria-corpus callosum agenesis syndrome	HP:0040282 - Frequent		2
HP:0002098	HP:0002098	Respiratory distress	0	DMPK CL E G H	1760	2933	OMIM:160900	Myotonic dystrophy 1	.		152
HP:0002098	HP:0002098	Respiratory distress	0	DNAAF3 CL E G H	352909	30492	OMIM:606763	Ciliary dyskinesia, primary, 2	.		63
HP:0002098	HP:0002098	Respiratory distress	0	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1	.		5
HP:0002098	HP:0002098	Respiratory distress	0	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE	.		27
HP:0002098	HP:0002098	Respiratory distress	0	DPM2 CL E G H	8818	3006	OMIM:615042	Congenital disorder of glycosylation, type Iu	.		26
HP:0002098	HP:0002098	Respiratory distress	0	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy	HP:0040283 - Occasional		26
HP:0002098	HP:0002098	Respiratory distress	0	DYNC2LI1 CL E G H	51626	24595	OMIM:617088	Short-rib thoracic dysplasia 15 with polydactyly	.		7
HP:0002098	HP:0002098	Respiratory distress	0	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked	.		115
HP:0002098	HP:0002098	Respiratory distress	0	EDN1 CL E G H	1906	3176	ORPHA:137888	Auriculocondylar syndrome	HP:0040282 - Frequent		6
HP:0002098	HP:0002098	Respiratory distress	0	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type	.		48
HP:0002098	HP:0002098	Respiratory distress	0	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040282 - Frequent		151
HP:0002098	HP:0002098	Respiratory distress	0	EOMES CL E G H	8320	3372	ORPHA:171703	Microcephaly-polymicrogyria-corpus callosum agenesis syndrome	HP:0040282 - Frequent		7
HP:0002098	HP:0002098	Respiratory distress	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0002098	HP:0002098	Respiratory distress	0	EPHB4 CL E G H	2050	3395	OMIM:617300	Lymphatic malformation 7	.		3
HP:0002098	HP:0002098	Respiratory distress	0	ERF CL E G H	2077	3444	OMIM:617180	Chitayat syndrome			12
HP:0002098	HP:0002098	Respiratory distress	0	ERGIC1 CL E G H	57222	29205	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040283 - Occasional
HP:0002098	HP:0002098	Respiratory distress	0	ETFA CL E G H	2108	3481	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.		37
HP:0002098	HP:0002098	Respiratory distress	0	ETFB CL E G H	2109	3482	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.		27
HP:0002098	HP:0002098	Respiratory distress	0	ETFDH CL E G H	2110	3483	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.		77
HP:0002098	HP:0002098	Respiratory distress	0	FAM20C CL E G H	56975	22140	ORPHA:1832	Lethal osteosclerotic bone dysplasia	HP:0040282 - Frequent		35
HP:0002098	HP:0002098	Respiratory distress	0	FBP1 CL E G H	2203	3606	ORPHA:348	Fructose-1,6-bisphosphatase deficiency	HP:0040283 - Occasional		64
HP:0002098	HP:0002098	Respiratory distress	0	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia	.		172
HP:0002098	HP:0002098	Respiratory distress	0	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome	.		175
HP:0002098	HP:0002098	Respiratory distress	0	FGFR2 CL E G H	2263	3689	ORPHA:1555	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome	HP:0040281 - Very frequent		175
HP:0002098	HP:0002098	Respiratory distress	0	FGFR2 CL E G H	2263	3689	ORPHA:93259	Pfeiffer syndrome type 2	HP:0040281 - Very frequent		175
HP:0002098	HP:0002098	Respiratory distress	0	FGFR2 CL E G H	2263	3689	ORPHA:93260	Pfeiffer syndrome type 3	HP:0040281 - Very frequent		175
HP:0002098	HP:0002098	Respiratory distress	0	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA			145
HP:0002098	HP:0002098	Respiratory distress	0	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia	HP:0040281 - Very frequent		61
HP:0002098	HP:0002098	Respiratory distress	0	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome	HP:0040283 - Occasional		32
HP:0002098	HP:0002098	Respiratory distress	0	GAA CL E G H	2548	4065	ORPHA:308552	Glycogen storage disease due to acid maltase deficiency, infantile onset	HP:0040282 - Frequent		407
HP:0002098	HP:0002098	Respiratory distress	0	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease	HP:0040283 - Occasional		160
HP:0002098	HP:0002098	Respiratory distress	0	GATA6 CL E G H	2627	4174	ORPHA:2140	Congenital diaphragmatic hernia	HP:0040282 - Frequent		37
HP:0002098	HP:0002098	Respiratory distress	0	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	HP:0040283 - Occasional		37
HP:0002098	HP:0002098	Respiratory distress	0	GBA1 CL E G H	2629	4177	ORPHA:77260	Gaucher disease type 2	HP:0040282 - Frequent
HP:0002098	HP:0002098	Respiratory distress	0	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal	.
HP:0002098	HP:0002098	Respiratory distress	0	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent		3
HP:0002098	HP:0002098	Respiratory distress	0	GNAI3 CL E G H	2773	4387	ORPHA:137888	Auriculocondylar syndrome	HP:0040282 - Frequent		2
HP:0002098	HP:0002098	Respiratory distress	0	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional		11
HP:0002098	HP:0002098	Respiratory distress	0	HLCS CL E G H	3141	4976	ORPHA:79242	Holocarboxylase synthetase deficiency	HP:0040282 - Frequent		148
HP:0002098	HP:0002098	Respiratory distress	0	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria			15
HP:0002098	HP:0002098	Respiratory distress	0	IFIH1 CL E G H	64135	18873	OMIM:619773	IMMUNODEFICIENCY 95; IMD95			28
HP:0002098	HP:0002098	Respiratory distress	0	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex	HP:0040283 - Occasional		23
HP:0002098	HP:0002098	Respiratory distress	0	IFT52 CL E G H	51098	15901	OMIM:617102	Short-Rib thoracic dysplasia 16 with or without polydactyly	.		4
HP:0002098	HP:0002098	Respiratory distress	0	IFT81 CL E G H	28981	14313	OMIM:617895	Short-Rib thoracic dysplasia 19 with or without polydactyly			2
HP:0002098	HP:0002098	Respiratory distress	0	IL1RN CL E G H	3557	6000	OMIM:612852	Interleukin 1 receptor antagonist deficiency			40
HP:0002098	HP:0002098	Respiratory distress	0	IL6ST CL E G H	3572	6021	OMIM:619751	STUVE-WIEDEMANN SYNDROME 2; STWS2
HP:0002098	HP:0002098	Respiratory distress	0	ITGA3 CL E G H	3675	6139	OMIM:614748	Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital			6
HP:0002098	HP:0002098	Respiratory distress	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0002098	HP:0002098	Respiratory distress	0	KATNB1 CL E G H	10300	6217	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040283 - Occasional		10
HP:0002098	HP:0002098	Respiratory distress	0	KCNA1 CL E G H	3736	6218	ORPHA:37612	Episodic ataxia type 1	HP:0040283 - Occasional		145
HP:0002098	HP:0002098	Respiratory distress	0	KLHL7 CL E G H	55975	15646	OMIM:617055	Crisponi/cold-Induced sweating syndrome 3	.		42
HP:0002098	HP:0002098	Respiratory distress	0	KRT16 CL E G H	3868	6423	ORPHA:2309	Pachyonychia congenita	HP:0040284 - Very rare		27
HP:0002098	HP:0002098	Respiratory distress	0	KRT17 CL E G H	3872	6427	ORPHA:2309	Pachyonychia congenita	HP:0040284 - Very rare		23
HP:0002098	HP:0002098	Respiratory distress	0	KRT6A CL E G H	3853	6443	ORPHA:2309	Pachyonychia congenita	HP:0040284 - Very rare		41
HP:0002098	HP:0002098	Respiratory distress	0	KRT6B CL E G H	3854	6444	ORPHA:2309	Pachyonychia congenita	HP:0040284 - Very rare		4
HP:0002098	HP:0002098	Respiratory distress	0	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional		116
HP:0002098	HP:0002098	Respiratory distress	0	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040282 - Frequent		92
HP:0002098	HP:0002098	Respiratory distress	0	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional		167
HP:0002098	HP:0002098	Respiratory distress	0	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional		135
HP:0002098	HP:0002098	Respiratory distress	0	LGI4 CL E G H	163175	18712	ORPHA:2680	Hypomyelination neuropathy-arthrogryposis syndrome	HP:0040281 - Very frequent		6
HP:0002098	HP:0002098	Respiratory distress	0	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome	HP:0040282 - Frequent		144
HP:0002098	HP:0002098	Respiratory distress	0	LMNA CL E G H	4000	6636	OMIM:619793	RESTRICTIVE DERMOPATHY 2; RSDM2			645
HP:0002098	HP:0002098	Respiratory distress	0	LONP1 CL E G H	9361	9479	ORPHA:2140	Congenital diaphragmatic hernia	HP:0040282 - Frequent		8
HP:0002098	HP:0002098	Respiratory distress	0	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1
HP:0002098	HP:0002098	Respiratory distress	0	LYRM4 CL E G H	57128	21365	OMIM:615595	Combined oxidative phosphorylation deficiency 19	.		4
HP:0002098	HP:0002098	Respiratory distress	0	MAPT CL E G H	4137	6893	ORPHA:240103	Progressive supranuclear palsy-corticobasal syndrome	HP:0040284 - Very rare		140
HP:0002098	HP:0002098	Respiratory distress	0	MAPT CL E G H	4137	6893	ORPHA:240085	Progressive supranuclear palsy-parkinsonism syndrome	HP:0040283 - Occasional		140
HP:0002098	HP:0002098	Respiratory distress	0	MEGF10 CL E G H	84466	29634	OMIM:614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset	.		158
HP:0002098	HP:0002098	Respiratory distress	0	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG	HP:0040283 - Occasional		39
HP:0002098	HP:0002098	Respiratory distress	0	MMAA CL E G H	166785	18871	OMIM:251100	Methylmalonic aciduria, Cbla type	.		113
HP:0002098	HP:0002098	Respiratory distress	0	MMAB CL E G H	326625	19331	OMIM:251110	Methylmalonic aciduria, Cblb type	.		127
HP:0002098	HP:0002098	Respiratory distress	0	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC	HP:0040283 - Occasional		101
HP:0002098	HP:0002098	Respiratory distress	0	MMUT CL E G H	4594	7526	OMIM:251000	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
HP:0002098	HP:0002098	Respiratory distress	0	MMUT CL E G H	4594	7526	ORPHA:79312	Vitamin B12-unresponsive methylmalonic acidemia type mut-	HP:0040281 - Very frequent
HP:0002098	HP:0002098	Respiratory distress	0	MMUT CL E G H	4594	7526	ORPHA:289916	Vitamin B12-unresponsive methylmalonic acidemia type mut0	HP:0040282 - Frequent
HP:0002098	HP:0002098	Respiratory distress	0	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG	HP:0040283 - Occasional		37
HP:0002098	HP:0002098	Respiratory distress	0	MPC1 CL E G H	51660	21606	OMIM:614741	Mitochondrial pyruvate carrier deficiency	HP:0040283 - Occasional		6
HP:0002098	HP:0002098	Respiratory distress	0	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy			56
HP:0002098	HP:0002098	Respiratory distress	0	MTM1 CL E G H	4534	7448	ORPHA:596	X-linked centronuclear myopathy			185
HP:0002098	HP:0002098	Respiratory distress	0	MYBPC3 CL E G H	4607	7551	OMIM:115197	Cardiomyopathy, familial hypertrophic, 4			1143
HP:0002098	HP:0002098	Respiratory distress	0	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes
HP:0002098	HP:0002098	Respiratory distress	0	NAGS CL E G H	162417	17996	ORPHA:927	Hyperammonemia due to N-acetylglutamate synthase deficiency	HP:0040284 - Very rare		36
HP:0002098	HP:0002098	Respiratory distress	0	NAGS CL E G H	162417	17996	OMIM:237310	N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY	.		36
HP:0002098	HP:0002098	Respiratory distress	0	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002098	HP:0002098	Respiratory distress	0	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002098	HP:0002098	Respiratory distress	0	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002098	HP:0002098	Respiratory distress	0	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002098	HP:0002098	Respiratory distress	0	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002098	HP:0002098	Respiratory distress	0	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002098	HP:0002098	Respiratory distress	0	NDE1 CL E G H	54820	17619	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040283 - Occasional		96
HP:0002098	HP:0002098	Respiratory distress	0	NDUFA8 CL E G H	4702	7692	OMIM:619272	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0002098	HP:0002098	Respiratory distress	0	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		31
HP:0002098	HP:0002098	Respiratory distress	0	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional		3
HP:0002098	HP:0002098	Respiratory distress	0	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent
HP:0002098	HP:0002098	Respiratory distress	0	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		65
HP:0002098	HP:0002098	Respiratory distress	0	NEMF CL E G H	9147	10663	OMIM:619099	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND AXONAL PERIPHERAL NEUROPATHY; IDDSAPN			1
HP:0002098	HP:0002098	Respiratory distress	0	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation			32
HP:0002098	HP:0002098	Respiratory distress	0	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome	HP:0040282 - Frequent		51
HP:0002098	HP:0002098	Respiratory distress	0	NKX2-1 CL E G H	7080	11825	OMIM:610978	Choreoathetosis, hypothyroidism, and neonatal respiratory distress	.	HP:0003623 - Neonatal onset	51
HP:0002098	HP:0002098	Respiratory distress	0	NUP214 CL E G H	8021	8064	OMIM:618426	Encephalopathy, acute, infection-induced, susceptibility to, 9	.		1
HP:0002098	HP:0002098	Respiratory distress	0	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent		53
HP:0002098	HP:0002098	Respiratory distress	0	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1	.		53
HP:0002098	HP:0002098	Respiratory distress	0	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent		21
HP:0002098	HP:0002098	Respiratory distress	0	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent		39
HP:0002098	HP:0002098	Respiratory distress	0	OTX2 CL E G H	5015	8522	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome	HP:0040281 - Very frequent		41
HP:0002098	HP:0002098	Respiratory distress	0	PLCB4 CL E G H	5332	9059	ORPHA:137888	Auriculocondylar syndrome	HP:0040282 - Frequent		82
HP:0002098	HP:0002098	Respiratory distress	0	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040283 - Occasional		150
HP:0002098	HP:0002098	Respiratory distress	0	POMT1 CL E G H	10585	9202	ORPHA:86812	POMT1-related limb-girdle muscular dystrophy R11	HP:0040283 - Occasional		213
HP:0002098	HP:0002098	Respiratory distress	0	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0002098	HP:0002098	Respiratory distress	0	PRRX1 CL E G H	5396	9142	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome	HP:0040281 - Very frequent		4
HP:0002098	HP:0002098	Respiratory distress	0	PRRX1 CL E G H	5396	9142	OMIM:202650	Agnathia-Otocephaly complex	.		4
HP:0002098	HP:0002098	Respiratory distress	0	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease	HP:0040283 - Occasional		81
HP:0002098	HP:0002098	Respiratory distress	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040283 - Occasional		19
HP:0002098	HP:0002098	Respiratory distress	0	PURA CL E G H	5813	9701	ORPHA:438216	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation	HP:0040281 - Very frequent		53
HP:0002098	HP:0002098	Respiratory distress	0	PURA CL E G H	5813	9701	ORPHA:314655	Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion	HP:0040282 - Frequent		53
HP:0002098	HP:0002098	Respiratory distress	0	REEP1 CL E G H	65055	25786	OMIM:620011				87
HP:0002098	HP:0002098	Respiratory distress	0	RELN CL E G H	5649	9957	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040283 - Occasional		334
HP:0002098	HP:0002098	Respiratory distress	0	RNF13 CL E G H	11342	10057	ORPHA:544503	RNF13-related severe early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0002098	HP:0002098	Respiratory distress	0	RPS26 CL E G H	6231	10414	OMIM:613309	Diamond-blackfan anemia 10	HP:0040283 - Occasional		20
HP:0002098	HP:0002098	Respiratory distress	0	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis	.		1
HP:0002098	HP:0002098	Respiratory distress	0	RRM2B CL E G H	50484	17296	OMIM:612075	Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)			125
HP:0002098	HP:0002098	Respiratory distress	0	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia	.		90
HP:0002098	HP:0002098	Respiratory distress	0	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1	.		26
HP:0002098	HP:0002098	Respiratory distress	0	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1	.		40
HP:0002098	HP:0002098	Respiratory distress	0	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		40
HP:0002098	HP:0002098	Respiratory distress	0	SCYL2 CL E G H	55681	19286	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040283 - Occasional
HP:0002098	HP:0002098	Respiratory distress	0	SDCCAG8 CL E G H	10806	10671	OMIM:615993	Bardet-Biedl syndrome 16	.		61
HP:0002098	HP:0002098	Respiratory distress	0	SDHA CL E G H	6389	10680	OMIM:613642	Cardiomyopathy, dilated, 1gg			304
HP:0002098	HP:0002098	Respiratory distress	0	SERPING1 CL E G H	710	1228	ORPHA:100050	Hereditary angioedema type 1	HP:0040283 - Occasional		64
HP:0002098	HP:0002098	Respiratory distress	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040283 - Occasional		143
HP:0002098	HP:0002098	Respiratory distress	0	SFTPB CL E G H	6439	10801	ORPHA:70587	Infant acute respiratory distress syndrome			51
HP:0002098	HP:0002098	Respiratory distress	0	SFTPC CL E G H	6440	10802	ORPHA:70587	Infant acute respiratory distress syndrome			33
HP:0002098	HP:0002098	Respiratory distress	0	SFTPC CL E G H	6440	10802	OMIM:610913	Surfactant metabolism dysfunction, pulmonary, 2			33
HP:0002098	HP:0002098	Respiratory distress	0	SIK1 CL E G H	150094	11142	OMIM:616341	Deafness, autosomal dominant 67			11
HP:0002098	HP:0002098	Respiratory distress	0	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare		145
HP:0002098	HP:0002098	Respiratory distress	0	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0002098	HP:0002098	Respiratory distress	0	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional		63
HP:0002098	HP:0002098	Respiratory distress	0	SLC22A5 CL E G H	6584	10969	OMIM:212140	Carnitine deficiency, systemic primary			207
HP:0002098	HP:0002098	Respiratory distress	0	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes			28
HP:0002098	HP:0002098	Respiratory distress	0	SLC25A3 CL E G H	5250	10989	ORPHA:91130	Cardiomyopathy-hypotonia-lactic acidosis syndrome	HP:0040283 - Occasional		35
HP:0002098	HP:0002098	Respiratory distress	0	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome	HP:0040283 - Occasional		178
HP:0002098	HP:0002098	Respiratory distress	0	SLC35A1 CL E G H	10559	11021	ORPHA:238459	SLC35A1-CDG	HP:0040281 - Very frequent		24
HP:0002098	HP:0002098	Respiratory distress	0	SLC52A3 CL E G H	113278	16187	OMIM:211530	Brown-Vialetto-Van laere syndrome 1	.		51
HP:0002098	HP:0002098	Respiratory distress	0	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes			9
HP:0002098	HP:0002098	Respiratory distress	0	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0002098	HP:0002098	Respiratory distress	0	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation	HP:0040282 - Frequent		37
HP:0002098	HP:0002098	Respiratory distress	0	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia	.		109
HP:0002098	HP:0002098	Respiratory distress	0	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1	.
HP:0002098	HP:0002098	Respiratory distress	0	SSR4 CL E G H	6748	11326	OMIM:300934	Congenital disorder of glycosylation, type Iy	.		12
HP:0002098	HP:0002098	Respiratory distress	0	STAT5B CL E G H	6777	11367	OMIM:245590	GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY			12
HP:0002098	HP:0002098	Respiratory distress	0	STT3B CL E G H	201595	30611	OMIM:615597	Congenital disorder of glycosylation, type Ix	.		18
HP:0002098	HP:0002098	Respiratory distress	0	STT3B CL E G H	201595	30611	ORPHA:370924	STT3B-CDG	HP:0040282 - Frequent		18
HP:0002098	HP:0002098	Respiratory distress	0	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria	HP:0040283 - Occasional		60
HP:0002098	HP:0002098	Respiratory distress	0	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		73
HP:0002098	HP:0002098	Respiratory distress	0	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency	.		73
HP:0002098	HP:0002098	Respiratory distress	0	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes			4
HP:0002098	HP:0002098	Respiratory distress	0	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome	HP:0040283 - Occasional		271
HP:0002098	HP:0002098	Respiratory distress	0	TK2 CL E G H	7084	11831	ORPHA:254875	Mitochondrial DNA depletion syndrome, myopathic form	HP:0040282 - Frequent		103
HP:0002098	HP:0002098	Respiratory distress	0	TP73 CL E G H	7161	12003	OMIM:619466	CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY; CILD47
HP:0002098	HP:0002098	Respiratory distress	0	TPI1 CL E G H	7167	12009	OMIM:615512	Triosephosphate isomerase deficiency			28
HP:0002098	HP:0002098	Respiratory distress	0	TRAK1 CL E G H	22906	29947	OMIM:618201	Epileptic encephalopathy, early infantile, 68	HP:0040284 - Very rare
HP:0002098	HP:0002098	Respiratory distress	0	TRIP11 CL E G H	9321	12305	ORPHA:166272	Odontochondrodysplasia	HP:0040283 - Occasional		133
HP:0002098	HP:0002098	Respiratory distress	0	TRIP11 CL E G H	9321	12305	OMIM:184260	Osteochondrodysplasia	.		133
HP:0002098	HP:0002098	Respiratory distress	0	TRMU CL E G H	55687	25481	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency	HP:0040282 - Frequent		101
HP:0002098	HP:0002098	Respiratory distress	0	TRNE CL E G H	4556	7479	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency	HP:0040282 - Frequent
HP:0002098	HP:0002098	Respiratory distress	0	TRNE CL E G H	4556	7479	ORPHA:2596	Myopathy and diabetes mellitus	HP:0040283 - Occasional
HP:0002098	HP:0002098	Respiratory distress	0	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002098	HP:0002098	Respiratory distress	0	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002098	HP:0002098	Respiratory distress	0	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency	.
HP:0002098	HP:0002098	Respiratory distress	0	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency	.
HP:0002098	HP:0002098	Respiratory distress	0	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002098	HP:0002098	Respiratory distress	0	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002098	HP:0002098	Respiratory distress	0	TRPV6 CL E G H	55503	14006	OMIM:618188	Hyperparathyroidism, transient neonatal	.		4
HP:0002098	HP:0002098	Respiratory distress	0	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex	HP:0040283 - Occasional		1090
HP:0002098	HP:0002098	Respiratory distress	0	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex	HP:0040283 - Occasional		2738
HP:0002098	HP:0002098	Respiratory distress	0	TUBB4A CL E G H	10382	20774	ORPHA:98805	Primary dystonia, DYT4 type	HP:0040283 - Occasional		66
HP:0002098	HP:0002098	Respiratory distress	0	UBA1 CL E G H	7317	12469	ORPHA:1145	Infantile-onset X-linked spinal muscular atrophy	HP:0040282 - Frequent		35
HP:0002098	HP:0002098	Respiratory distress	0	UBE3B CL E G H	89910	13478	ORPHA:2707	Oculocerebrofacial syndrome, Kaufman type	HP:0040281 - Very frequent		13
HP:0002098	HP:0002098	Respiratory distress	0	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted	.	HP:0003623 - Neonatal onset	27
HP:0002098	HP:0002098	Respiratory distress	0	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability	HP:0040283 - Occasional		27
HP:0002098	HP:0002098	Respiratory distress	0	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0002098	HP:0002098	Respiratory distress	0	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders	HP:0040282 - Frequent		1
HP:0002098	HP:0002098	Respiratory distress	0	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome			1
HP:0002098	HP:0002098	Respiratory distress	0	WDR45B CL E G H	56270	25072	OMIM:617977	Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures			1
HP:0002098	HP:0002098	Respiratory distress	0	XPNPEP2 CL E G H	7512	12823	ORPHA:100057	Renin-angiotensin-aldosterone system-blocker-induced angioedema			4
HP:0002098	HP:0002098	Respiratory distress	0	ZFPM2 CL E G H	23414	16700	ORPHA:2140	Congenital diaphragmatic hernia	HP:0040282 - Frequent		31
HP:0002098	HP:0002098	Respiratory distress	0	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked	.		39
HP:0002098	HP:0030864	Intercostal retractions	1	CL E G H
HP:0002098	HP:0030863	Nasal flaring	1	ABCA3 CL E G H	21	33	ORPHA:70587	Infant acute respiratory distress syndrome	HP:0040282 - Frequent		147
HP:0002098	HP:0004885	Episodic respiratory distress	1	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		127
HP:0002098	HP:0004885	Episodic respiratory distress	1	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0002098	HP:0004885	Episodic respiratory distress	1	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		65
HP:0002098	HP:0004885	Episodic respiratory distress	1	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		6
HP:0002098	HP:0004885	Episodic respiratory distress	1	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent
HP:0002098	HP:0004885	Episodic respiratory distress	1	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0002098	HP:0004885	Episodic respiratory distress	1	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0002098	HP:0004885	Episodic respiratory distress	1	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0002098	HP:0004885	Episodic respiratory distress	1	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0002098	HP:0004885	Episodic respiratory distress	1	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0002098	HP:0004885	Episodic respiratory distress	1	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0002098	HP:0030863	Nasal flaring	1	SFTPB CL E G H	6439	10801	ORPHA:70587	Infant acute respiratory distress syndrome	HP:0040282 - Frequent		51
HP:0002098	HP:0030863	Nasal flaring	1	SFTPC CL E G H	6440	10802	ORPHA:70587	Infant acute respiratory distress syndrome	HP:0040282 - Frequent		33
HP:0002098	HP:0004885	Episodic respiratory distress	1	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		2
HP:0002098	HP:0004885	Episodic respiratory distress	1	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		28
HP:0002098	HP:0004885	Episodic respiratory distress	1	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		9
HP:0002098	HP:0004885	Episodic respiratory distress	1	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		2
HP:0002098	HP:0004885	Episodic respiratory distress	1	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		4
HP:0002098	HP:0004885	Episodic respiratory distress	1	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0002098	HP:0004885	Episodic respiratory distress	1	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0002098	HP:0004885	Episodic respiratory distress	1	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0002098	HP:0004885	Episodic respiratory distress	1	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0002098	HP:0004885	Episodic respiratory distress	1	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		2

Genes (205) :ABCA3 ABCC6 ACADS ACADVL ADAMTS13 ADCY6 ADNP AGRN AIFM1 ALMS1 ASAH1 ATP1A2 ATP1A3 ATP6 ATP6V1B2 B3GALT6 BAP1 BMPER BOLA3 BTD CACNA1A CDC45 CDC6 CDT1 CHAT CHRNE CLCNKB CLPB CNTNAP1 COL13A1 COL25A1 COL2A1 COLQ COQ7 COX7B CREBBP CSF2RA CSF2RB DHX16 DISC1 DMPK DNAAF3 DNAJC21 DPM1 DPM2 DYNC2LI1 EDA EDN1 EFTUD2 ENPP1 EOMES EP300 EPHB4 ERF ERGIC1 ETFA ETFB ETFDH FAM20C FBP1 FGFR1 FGFR2 FGFR3 FOXF1 FOXP3 GAA GALC GATA6 GBA1 GMNN GNAI3 HCCS HLCS IDH1 IFIH1 IFNG IFT52 IFT81 IL1RN IL6ST ITGA3 KAT6A KATNB1 KCNA1 KLHL7 KRT16 KRT17 KRT6A KRT6B LAMA3 LAMB2 LAMB3 LAMC2 LGI4 LIFR LMNA LONP1 LRP12 LYRM4 MAPT MEGF10 MGAT2 MMAA MMAB MMACHC MMUT MOGS MPC1 MPV17 MTM1 MYBPC3 MYO9A NAGS ND1 ND2 ND3 ND4 ND5 ND6 NDE1 NDUFA8 NDUFAF3 NDUFB11 NDUFB8 NDUFS2 NEMF NGLY1 NKX2-1 NUP214 ORC1 ORC4 ORC6 OTX2 PLCB4 PMM2 POMT1 PPP1R21 PRRX1 PSAP PUF60 PURA REEP1 RELN RNF13 RPS26 RPS28 RRM2B RUNX2 SBDS SCO2 SCYL2 SDCCAG8 SDHA SERPING1 SETBP1 SFTPB SFTPC SIK1 SLC12A3 SLC18A3 SLC1A3 SLC22A5 SLC25A1 SLC25A3 SLC2A10 SLC35A1 SLC52A3 SLC5A7 SNAP25 SNRPN SOX9 SRP54 SSR4 STAT5B STT3B SUCLG1 SURF1 SYT2 TBC1D24 TK2 TP73 TPI1 TRAK1 TRIP11 TRMU TRNE TRNK TRNL1 TRNN TRNS1 TRNV TRNW TRPV6 TSC1 TSC2 TUBB4A UBA1 UBE3B USP9X VAMP1 VPS33A WDR45B XPNPEP2 ZFPM2 ZIC3

Diseases (163) :ORPHA:70587 OMIM:610921 ORPHA:51608 ORPHA:26792 ORPHA:26793 OMIM:274150 ORPHA:2680 ORPHA:404448 ORPHA:98914 ORPHA:238329 ORPHA:64 ORPHA:333 ORPHA:2131 ORPHA:255210 ORPHA:79500 ORPHA:536467 ORPHA:50251 OMIM:608022 ORPHA:66637 OMIM:614299 ORPHA:79241 ORPHA:2554 OMIM:254210 OMIM:605809 ORPHA:358 OMIM:616271 ORPHA:1143 OMIM:156550 OMIM:151210 OMIM:183900 ORPHA:98915 OMIM:616733 ORPHA:2556 OMIM:180849 ORPHA:264675 OMIM:618733 ORPHA:171703 OMIM:160900 OMIM:606763 OMIM:260400 OMIM:608799 OMIM:615042 ORPHA:329178 OMIM:617088 OMIM:305100 ORPHA:137888 OMIM:610536 OMIM:617300 OMIM:617180 OMIM:231680 ORPHA:1832 ORPHA:348 OMIM:166250 OMIM:123790 ORPHA:1555 ORPHA:93259 ORPHA:93260 OMIM:100800 ORPHA:210122 ORPHA:37042 ORPHA:308552 ORPHA:206436 ORPHA:2140 ORPHA:2255 ORPHA:77260 OMIM:608013 ORPHA:79242 ORPHA:99646 OMIM:619773 ORPHA:805 OMIM:617102 OMIM:617895 OMIM:612852 OMIM:619751 OMIM:614748 OMIM:616268 ORPHA:89844 ORPHA:37612 OMIM:617055 ORPHA:2309 ORPHA:79404 ORPHA:3206 OMIM:619793 OMIM:164310 OMIM:615595 ORPHA:240103 ORPHA:240085 OMIM:614399 ORPHA:79329 OMIM:251100 OMIM:251110 ORPHA:79282 OMIM:251000 ORPHA:79312 ORPHA:289916 ORPHA:79330 OMIM:614741 OMIM:256810 ORPHA:596 OMIM:115197 ORPHA:927 OMIM:237310 OMIM:619272 ORPHA:70474 OMIM:619099 OMIM:615273 ORPHA:209905 OMIM:610978 OMIM:618426 OMIM:224690 ORPHA:990 ORPHA:79318 ORPHA:86812 OMIM:619383 OMIM:202650 ORPHA:508488 ORPHA:438216 ORPHA:314655 OMIM:620011 ORPHA:544503 OMIM:613309 OMIM:606164 OMIM:612075 OMIM:119600 OMIM:604377 OMIM:615993 OMIM:613642 ORPHA:100050 ORPHA:798 OMIM:610913 OMIM:616341 OMIM:212140 ORPHA:91130 ORPHA:3342 ORPHA:238459 OMIM:211530 ORPHA:177907 OMIM:114290 OMIM:300934 OMIM:245590 OMIM:615597 ORPHA:370924 ORPHA:17 OMIM:220110 ORPHA:254875 OMIM:619466 OMIM:615512 OMIM:618201 ORPHA:166272 OMIM:184260 ORPHA:254864 ORPHA:2596 OMIM:618188 ORPHA:98805 ORPHA:1145 ORPHA:2707 OMIM:300968 ORPHA:480880 ORPHA:505248 OMIM:617303 OMIM:617977 ORPHA:100057 OMIM:306955

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

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen