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:
Respiratory insufficiency (HP:0002093)

..Starting node
..Neonatal respiratory distress (HP:0002643)

Term ID:

2643

Name:

Neonatal respiratory distress

Synonym:

Infantile respiratory distress; Neonatal respiratory distress; Newborn respiratory distress; Respiratory distress, neonatal

Definition:

Respiratory difficulty as newborn.

Comments:

Reference:

HP:0002643

Genes and Diseases:

Child Nodes:

........

Neonatal inspiratory stridor (HP:0004875)

........

Neonatal asphyxia (HP:0012768)

Sister Nodes:

Intercostal muscle weakness (HP:0004878)

obsolete Restrictive deficit on pulmonary function testing (HP:0002111)

Respiratory arrest (HP:0005943)

Respiratory failure (HP:0002878)

Respiratory failure requiring assisted ventilation (HP:0004887)

Respiratory insufficiency due to defective ciliary clearance (HP:0200073)

Respiratory insufficiency due to muscle weakness (HP:0002747)

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:0002643	HP:0002643	Neonatal respiratory distress	0	ABCA3 CL E G H	21	33	OMIM:610921	Surfactant metabolism dysfunction, pulmonary, 3		147
HP:0002643	HP:0002643	Neonatal respiratory distress	0	ABCB11 CL E G H	8647	42	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040283 - Occasional	146
HP:0002643	HP:0002643	Neonatal respiratory distress	0	ABCB4 CL E G H	5244	45	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040283 - Occasional	111
HP:0002643	HP:0002643	Neonatal respiratory distress	0	ALDH1A2 CL E G H	8854	15472	OMIM:620025
HP:0002643	HP:0002643	Neonatal respiratory distress	0	ALDH7A1 CL E G H	501	877	OMIM:266100	Epilepsy, pyridoxine-dependent	.	227
HP:0002643	HP:0002643	Neonatal respiratory distress	0	ALDH7A1 CL E G H	501	877	ORPHA:3006	Pyridoxine-dependent epilepsy	HP:0040282 - Frequent	227
HP:0002643	HP:0002643	Neonatal respiratory distress	0	ALG14 CL E G H	199857	28287	OMIM:619036	MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA		12
HP:0002643	HP:0002643	Neonatal respiratory distress	0	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata	HP:0040283 - Occasional
HP:0002643	HP:0002643	Neonatal respiratory distress	0	ASCC1 CL E G H	51008	24268	OMIM:616867	Spinal muscular atrophy with congenital bone fractures 2		2
HP:0002643	HP:0002643	Neonatal respiratory distress	0	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome		145
HP:0002643	HP:0002643	Neonatal respiratory distress	0	ATP8B1 CL E G H	5205	3706	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040283 - Occasional	144
HP:0002643	HP:0002643	Neonatal respiratory distress	0	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy		99
HP:0002643	HP:0002643	Neonatal respiratory distress	0	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1		85
HP:0002643	HP:0002643	Neonatal respiratory distress	0	CCDC103 CL E G H	388389	32700	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	36
HP:0002643	HP:0002643	Neonatal respiratory distress	0	CCDC39 CL E G H	339829	25244	OMIM:613807	Ciliary dyskinesia, primary, 14		126
HP:0002643	HP:0002643	Neonatal respiratory distress	0	CCDC39 CL E G H	339829	25244	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	126
HP:0002643	HP:0002643	Neonatal respiratory distress	0	CCDC40 CL E G H	55036	26090	OMIM:613808	CILIARY DYSKINESIA, PRIMARY, 15; CILD15		182
HP:0002643	HP:0002643	Neonatal respiratory distress	0	CCDC40 CL E G H	55036	26090	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	182
HP:0002643	HP:0002643	Neonatal respiratory distress	0	CCDC65 CL E G H	85478	29937	OMIM:615504	Ciliary dyskinesia, primary, 27		23
HP:0002643	HP:0002643	Neonatal respiratory distress	0	CCDC65 CL E G H	85478	29937	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	23
HP:0002643	HP:0002643	Neonatal respiratory distress	0	CCNO CL E G H	10309	18576	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	23
HP:0002643	HP:0002643	Neonatal respiratory distress	0	CFAP221 CL E G H	200373	33720	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0002643	HP:0002643	Neonatal respiratory distress	0	CFAP298 CL E G H	56683	1301	OMIM:615500	Ciliary dyskinesia, primary, 26
HP:0002643	HP:0002643	Neonatal respiratory distress	0	CFAP298 CL E G H	56683	1301	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0002643	HP:0002643	Neonatal respiratory distress	0	CFAP300 CL E G H	85016	28188	OMIM:618063	Ciliary dyskinesia, primary, 38	.
HP:0002643	HP:0002643	Neonatal respiratory distress	0	CFAP300 CL E G H	85016	28188	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0002643	HP:0002643	Neonatal respiratory distress	0	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040282 - Frequent	68
HP:0002643	HP:0002643	Neonatal respiratory distress	0	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant	.	68
HP:0002643	HP:0002643	Neonatal respiratory distress	0	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040283 - Occasional	90
HP:0002643	HP:0002643	Neonatal respiratory distress	0	COX14 CL E G H	84987	28216	OMIM:619053	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10; MC4DN10		4
HP:0002643	HP:0002643	Neonatal respiratory distress	0	COX6A2 CL E G H	1339	2279	OMIM:619062	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 18; MC4DN18
HP:0002643	HP:0002643	Neonatal respiratory distress	0	CPT2 CL E G H	1376	2330	ORPHA:228308	Carnitine palmitoyl transferase II deficiency, neonatal form	HP:0040282 - Frequent	101
HP:0002643	HP:0002643	Neonatal respiratory distress	0	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal		101
HP:0002643	HP:0002643	Neonatal respiratory distress	0	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0002643	HP:0002643	Neonatal respiratory distress	0	CUL7 CL E G H	9820	21024	OMIM:273750	3-M syndrome 1	.	127
HP:0002643	HP:0002643	Neonatal respiratory distress	0	DMPK CL E G H	1760	2933	ORPHA:589821	Congenital-onset Steinert myotonic dystrophy		152
HP:0002643	HP:0002643	Neonatal respiratory distress	0	DNAAF1 CL E G H	123872	30539	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	116
HP:0002643	HP:0002643	Neonatal respiratory distress	0	DNAAF11 CL E G H	23639	16725	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0002643	HP:0002643	Neonatal respiratory distress	0	DNAAF2 CL E G H	55172	20188	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	78
HP:0002643	HP:0002643	Neonatal respiratory distress	0	DNAAF3 CL E G H	352909	30492	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	63
HP:0002643	HP:0002643	Neonatal respiratory distress	0	DNAAF4 CL E G H	161582	21493	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	27
HP:0002643	HP:0002643	Neonatal respiratory distress	0	DNAAF5 CL E G H	54919	26013	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	62
HP:0002643	HP:0002643	Neonatal respiratory distress	0	DNAAF6 CL E G H	139212	28570	OMIM:300991	Ciliary dyskinesia, primary, 36, X-linked	.
HP:0002643	HP:0002643	Neonatal respiratory distress	0	DNAAF6 CL E G H	139212	28570	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0002643	HP:0002643	Neonatal respiratory distress	0	DNAH1 CL E G H	25981	2940	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	21
HP:0002643	HP:0002643	Neonatal respiratory distress	0	DNAH11 CL E G H	8701	2942	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	542
HP:0002643	HP:0002643	Neonatal respiratory distress	0	DNAH5 CL E G H	1767	2950	OMIM:608644	CILIARY DYSKINESIA, PRIMARY, 3; CILD3		527
HP:0002643	HP:0002643	Neonatal respiratory distress	0	DNAH5 CL E G H	1767	2950	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	527
HP:0002643	HP:0002643	Neonatal respiratory distress	0	DNAH9 CL E G H	1770	2953	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	18
HP:0002643	HP:0002643	Neonatal respiratory distress	0	DNAI1 CL E G H	27019	2954	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	73
HP:0002643	HP:0002643	Neonatal respiratory distress	0	DNAI2 CL E G H	64446	18744	OMIM:612444	CILIARY DYSKINESIA, PRIMARY, 9; CILD9		104
HP:0002643	HP:0002643	Neonatal respiratory distress	0	DNAI2 CL E G H	64446	18744	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	104
HP:0002643	HP:0002643	Neonatal respiratory distress	0	DNAJB13 CL E G H	374407	30718	OMIM:617091	CILIARY DYSKINESIA, PRIMARY, 34; CILD34		2
HP:0002643	HP:0002643	Neonatal respiratory distress	0	DNAJB13 CL E G H	374407	30718	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	2
HP:0002643	HP:0002643	Neonatal respiratory distress	0	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1	.	5
HP:0002643	HP:0002643	Neonatal respiratory distress	0	DNAL1 CL E G H	83544	23247	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	167
HP:0002643	HP:0002643	Neonatal respiratory distress	0	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1		94
HP:0002643	HP:0002643	Neonatal respiratory distress	0	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy		167
HP:0002643	HP:0002643	Neonatal respiratory distress	0	DPM2 CL E G H	8818	3006	OMIM:615042	Congenital disorder of glycosylation, type Iu		26
HP:0002643	HP:0002643	Neonatal respiratory distress	0	DRC1 CL E G H	92749	24245	OMIM:615294	CILIARY DYSKINESIA, PRIMARY, 21; CILD21		44
HP:0002643	HP:0002643	Neonatal respiratory distress	0	DRC1 CL E G H	92749	24245	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	44
HP:0002643	HP:0002643	Neonatal respiratory distress	0	DST CL E G H	667	1090	OMIM:614653	Neuropathy, hereditary sensory and autonomic, type VI		108
HP:0002643	HP:0002643	Neonatal respiratory distress	0	ENPP1 CL E G H	5167	3356	OMIM:208000	Arterial calcification, generalized, of infancy, 1		151
HP:0002643	HP:0002643	Neonatal respiratory distress	0	FBN1 CL E G H	2200	3603	ORPHA:284979	Neonatal Marfan syndrome	HP:0040281 - Very frequent	1361
HP:0002643	HP:0002643	Neonatal respiratory distress	0	FGFR3 CL E G H	2261	3690	OMIM:187600	Thanatophoric dysplasia, type I		145
HP:0002643	HP:0002643	Neonatal respiratory distress	0	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0002643	HP:0002643	Neonatal respiratory distress	0	FOXJ1 CL E G H	2302	3816	OMIM:618699	CILIARY DYSKINESIA, PRIMARY, 43; CILD43
HP:0002643	HP:0002643	Neonatal respiratory distress	0	FOXJ1 CL E G H	2302	3816	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0002643	HP:0002643	Neonatal respiratory distress	0	GALK1 CL E G H	2584	4118	ORPHA:79237	Galactokinase deficiency		23
HP:0002643	HP:0002643	Neonatal respiratory distress	0	GAS2L2 CL E G H	246176	24846	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	1
HP:0002643	HP:0002643	Neonatal respiratory distress	0	GAS8 CL E G H	2622	4166	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	9
HP:0002643	HP:0002643	Neonatal respiratory distress	0	GLUL CL E G H	2752	4341	OMIM:610015	GLUTAMINE DEFICIENCY, CONGENITAL		98
HP:0002643	HP:0002643	Neonatal respiratory distress	0	GLYCTK CL E G H	132158	24247	OMIM:220120	D-GLYCERIC ACIDURIA		6
HP:0002643	HP:0002643	Neonatal respiratory distress	0	GMPPA CL E G H	29926	22923	OMIM:615510	Alacrima, achalasia, and mental retardation syndrome		24
HP:0002643	HP:0002643	Neonatal respiratory distress	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0002643	HP:0002643	Neonatal respiratory distress	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0002643	HP:0002643	Neonatal respiratory distress	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0002643	HP:0002643	Neonatal respiratory distress	0	GRM7 CL E G H	2917	4599	OMIM:618922	NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA		5
HP:0002643	HP:0002643	Neonatal respiratory distress	0	HACD1 CL E G H	9200	9639	OMIM:619967			2
HP:0002643	HP:0002643	Neonatal respiratory distress	0	HSD3B2 CL E G H	3284	5218	ORPHA:90791	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency		34
HP:0002643	HP:0002643	Neonatal respiratory distress	0	HYDIN CL E G H	54768	19368	OMIM:608647	Ciliary dyskinesia, primary, 5		21
HP:0002643	HP:0002643	Neonatal respiratory distress	0	HYDIN CL E G H	54768	19368	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	21
HP:0002643	HP:0002643	Neonatal respiratory distress	0	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6	HP:0040281 - Very frequent
HP:0002643	HP:0002643	Neonatal respiratory distress	0	ITGA3 CL E G H	3675	6139	OMIM:614748	Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital	.	6
HP:0002643	HP:0002643	Neonatal respiratory distress	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome	.	34
HP:0002643	HP:0002643	Neonatal respiratory distress	0	KAT6A CL E G H	7994	13013	ORPHA:457193	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	HP:0040282 - Frequent	34
HP:0002643	HP:0002643	Neonatal respiratory distress	0	KIAA0753 CL E G H	9851	29110	OMIM:619479	SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21		4
HP:0002643	HP:0002643	Neonatal respiratory distress	0	KIF22 CL E G H	3835	6391	ORPHA:93360	Spondyloepimetaphyseal dysplasia with multiple dislocations		14
HP:0002643	HP:0002643	Neonatal respiratory distress	0	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	1
HP:0002643	HP:0002643	Neonatal respiratory distress	0	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040283 - Occasional	92
HP:0002643	HP:0002643	Neonatal respiratory distress	0	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040283 - Occasional	8
HP:0002643	HP:0002643	Neonatal respiratory distress	0	LRRC56 CL E G H	115399	25430	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0002643	HP:0002643	Neonatal respiratory distress	0	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH		5
HP:0002643	HP:0002643	Neonatal respiratory distress	0	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH		5
HP:0002643	HP:0002643	Neonatal respiratory distress	0	MCIDAS CL E G H	345643	40050	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	13
HP:0002643	HP:0002643	Neonatal respiratory distress	0	MDFIC CL E G H	29969	28870	OMIM:620014
HP:0002643	HP:0002643	Neonatal respiratory distress	0	MLYCD CL E G H	23417	7150	OMIM:248360	Malonyl-CoA decarboxylase deficiency		80
HP:0002643	HP:0002643	Neonatal respiratory distress	0	MTM1 CL E G H	4534	7448	OMIM:310400	Myopathy, centronuclear, X-linked	.	185
HP:0002643	HP:0002643	Neonatal respiratory distress	0	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy		7
HP:0002643	HP:0002643	Neonatal respiratory distress	0	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy		19
HP:0002643	HP:0002643	Neonatal respiratory distress	0	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040282 - Frequent	166
HP:0002643	HP:0002643	Neonatal respiratory distress	0	NALCN CL E G H	259232	19082	OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay		48
HP:0002643	HP:0002643	Neonatal respiratory distress	0	NDUFB10 CL E G H	4716	7696	OMIM:619003	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35
HP:0002643	HP:0002643	Neonatal respiratory distress	0	NEK10 CL E G H	152110	18592	OMIM:618781	CILIARY DYSKINESIA, PRIMARY, 44; CILD44
HP:0002643	HP:0002643	Neonatal respiratory distress	0	NEK10 CL E G H	152110	18592	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0002643	HP:0002643	Neonatal respiratory distress	0	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome	HP:0040282 - Frequent	51
HP:0002643	HP:0002643	Neonatal respiratory distress	0	NKX2-1 CL E G H	7080	11825	OMIM:610978	Choreoathetosis, hypothyroidism, and neonatal respiratory distress	.	51
HP:0002643	HP:0002643	Neonatal respiratory distress	0	NME8 CL E G H	51314	16473	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	50
HP:0002643	HP:0002643	Neonatal respiratory distress	0	NPC2 CL E G H	10577	14537	OMIM:607625	Niemann-pick disease, type C2		33
HP:0002643	HP:0002643	Neonatal respiratory distress	0	NPHS1 CL E G H	4868	7908	OMIM:256300	Nephrotic syndrome, type 1	.	241
HP:0002643	HP:0002643	Neonatal respiratory distress	0	NR1H4 CL E G H	9971	7967	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040283 - Occasional	14
HP:0002643	HP:0002643	Neonatal respiratory distress	0	NSF CL E G H	4905	8016	OMIM:619340	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 96; DEE96
HP:0002643	HP:0002643	Neonatal respiratory distress	0	ODAD1 CL E G H	93233	26560	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0002643	HP:0002643	Neonatal respiratory distress	0	ODAD2 CL E G H	55130	25583	OMIM:615451	CILIARY DYSKINESIA, PRIMARY, 23; CILD23
HP:0002643	HP:0002643	Neonatal respiratory distress	0	ODAD2 CL E G H	55130	25583	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0002643	HP:0002643	Neonatal respiratory distress	0	ODAD3 CL E G H	115948	28303	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0002643	HP:0002643	Neonatal respiratory distress	0	ODAD4 CL E G H	83538	25280	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0002643	HP:0002643	Neonatal respiratory distress	0	OFD1 CL E G H	8481	2567	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	201
HP:0002643	HP:0002643	Neonatal respiratory distress	0	PAX2 CL E G H	5076	8616	ORPHA:97362	Renal hypoplasia, bilateral		39
HP:0002643	HP:0002643	Neonatal respiratory distress	0	PBX1 CL E G H	5087	8632	ORPHA:97362	Renal hypoplasia, bilateral		3
HP:0002643	HP:0002643	Neonatal respiratory distress	0	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040283 - Occasional	88
HP:0002643	HP:0002643	Neonatal respiratory distress	0	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)		169
HP:0002643	HP:0002643	Neonatal respiratory distress	0	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	9
HP:0002643	HP:0002643	Neonatal respiratory distress	0	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6	HP:0040281 - Very frequent
HP:0002643	HP:0002643	Neonatal respiratory distress	0	PLCB3 CL E G H	5331	9056	OMIM:618961	SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY; SMDCD
HP:0002643	HP:0002643	Neonatal respiratory distress	0	PLEC CL E G H	5339	9069	OMIM:226670	Epidermolysis bullosa simplex with muscular dystrophy	.	759
HP:0002643	HP:0002643	Neonatal respiratory distress	0	PLPBP CL E G H	11212	9457	ORPHA:3006	Pyridoxine-dependent epilepsy	HP:0040282 - Frequent	6
HP:0002643	HP:0002643	Neonatal respiratory distress	0	PTCD3 CL E G H	55037	24717	OMIM:619057	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51; COXPD51
HP:0002643	HP:0002643	Neonatal respiratory distress	0	RALGAPA1 CL E G H	253959	17770	OMIM:618797	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT		1
HP:0002643	HP:0002643	Neonatal respiratory distress	0	RAPSN CL E G H	5913	9863	OMIM:616326	Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency		73
HP:0002643	HP:0002643	Neonatal respiratory distress	0	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome		7
HP:0002643	HP:0002643	Neonatal respiratory distress	0	RPGR CL E G H	6103	10295	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	200
HP:0002643	HP:0002643	Neonatal respiratory distress	0	RSPH1 CL E G H	89765	12371	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	31
HP:0002643	HP:0002643	Neonatal respiratory distress	0	RSPH3 CL E G H	83861	21054	OMIM:616481	Ciliary dyskinesia, primary, 32	.	5
HP:0002643	HP:0002643	Neonatal respiratory distress	0	RSPH3 CL E G H	83861	21054	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	5
HP:0002643	HP:0002643	Neonatal respiratory distress	0	RSPH4A CL E G H	345895	21558	OMIM:612649	Ciliary dyskinesia, primary, 11		58
HP:0002643	HP:0002643	Neonatal respiratory distress	0	RSPH4A CL E G H	345895	21558	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	58
HP:0002643	HP:0002643	Neonatal respiratory distress	0	RSPH9 CL E G H	221421	21057	OMIM:612650	CILIARY DYSKINESIA, PRIMARY, 12; CILD12		20
HP:0002643	HP:0002643	Neonatal respiratory distress	0	RSPH9 CL E G H	221421	21057	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	20
HP:0002643	HP:0002643	Neonatal respiratory distress	0	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia	.	90
HP:0002643	HP:0002643	Neonatal respiratory distress	0	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy		1200
HP:0002643	HP:0002643	Neonatal respiratory distress	0	RYR1 CL E G H	6261	10483	ORPHA:597	Central core disease	HP:0040284 - Very rare	1200
HP:0002643	HP:0002643	Neonatal respiratory distress	0	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1	.	26
HP:0002643	HP:0002643	Neonatal respiratory distress	0	SCN4A CL E G H	6329	10591	ORPHA:684	Paramyotonia congenita of Von Eulenburg		263
HP:0002643	HP:0002643	Neonatal respiratory distress	0	SFTPB CL E G H	6439	10801	ORPHA:217563	Neonatal acute respiratory distress due to SP-B deficiency	HP:0040281 - Very frequent	51
HP:0002643	HP:0002643	Neonatal respiratory distress	0	SFTPB CL E G H	6439	10801	OMIM:265120	Surfactant metabolism dysfunction, pulmonary, 1		51
HP:0002643	HP:0002643	Neonatal respiratory distress	0	SHPK CL E G H	23729	1492	ORPHA:440713	Isolated sedoheptulokinase deficiency		2
HP:0002643	HP:0002643	Neonatal respiratory distress	0	SLC27A4 CL E G H	10999	10998	OMIM:608649	ICHTHYOSIS PREMATURITY SYNDROME; IPS		26
HP:0002643	HP:0002643	Neonatal respiratory distress	0	SLC27A4 CL E G H	10999	10998	ORPHA:88621	Ichthyosis-prematurity syndrome	HP:0040281 - Very frequent	26
HP:0002643	HP:0002643	Neonatal respiratory distress	0	SLC30A9 CL E G H	10463	1329	OMIM:617595	Birk-Landau-Perez syndrome		1
HP:0002643	HP:0002643	Neonatal respiratory distress	0	SMARCA2 CL E G H	6595	11098	ORPHA:2728	Blepharophimosis-intellectual disability syndrome, Ohdo type		146
HP:0002643	HP:0002643	Neonatal respiratory distress	0	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA		1
HP:0002643	HP:0002643	Neonatal respiratory distress	0	SNAP25 CL E G H	6616	11132	OMIM:616330	Myasthenic syndrome, congenital, 18		2
HP:0002643	HP:0002643	Neonatal respiratory distress	0	SNRPB CL E G H	6628	11153	ORPHA:1393	Cerebrocostomandibular syndrome	HP:0040281 - Very frequent	6
HP:0002643	HP:0002643	Neonatal respiratory distress	0	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome	.	6
HP:0002643	HP:0002643	Neonatal respiratory distress	0	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia		109
HP:0002643	HP:0002643	Neonatal respiratory distress	0	SOX9 CL E G H	6662	11204	ORPHA:718	Isolated Pierre Robin syndrome	HP:0040282 - Frequent	109
HP:0002643	HP:0002643	Neonatal respiratory distress	0	SPAG1 CL E G H	6674	11212	OMIM:615505	Ciliary dyskinesia, primary, 28		45
HP:0002643	HP:0002643	Neonatal respiratory distress	0	SPAG1 CL E G H	6674	11212	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	45
HP:0002643	HP:0002643	Neonatal respiratory distress	0	SPEF2 CL E G H	79925	26293	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	15
HP:0002643	HP:0002643	Neonatal respiratory distress	0	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1		16
HP:0002643	HP:0002643	Neonatal respiratory distress	0	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1	.
HP:0002643	HP:0002643	Neonatal respiratory distress	0	STK36 CL E G H	27148	17209	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	3
HP:0002643	HP:0002643	Neonatal respiratory distress	0	SUCLG1 CL E G H	8802	11449	OMIM:245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)		60
HP:0002643	HP:0002643	Neonatal respiratory distress	0	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5		47
HP:0002643	HP:0002643	Neonatal respiratory distress	0	TRAF7 CL E G H	84231	20456	OMIM:618164	Cardiac, facial, and digital anomalies with developmental delay	.
HP:0002643	HP:0002643	Neonatal respiratory distress	0	TRIP4 CL E G H	9325	12310	OMIM:616866	Spinal muscular atrophy with congenital bone fractures 1		4
HP:0002643	HP:0002643	Neonatal respiratory distress	0	TRNT CL E G H	4576	7499	ORPHA:254857	Lethal infantile mitochondrial myopathy	HP:0040283 - Occasional
HP:0002643	HP:0002643	Neonatal respiratory distress	0	TTC12 CL E G H	54970	23700	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0002643	HP:0002643	Neonatal respiratory distress	0	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome		13
HP:0002643	HP:0002643	Neonatal respiratory distress	0	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2		14
HP:0002643	HP:0002643	Neonatal respiratory distress	0	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome	.	19
HP:0002643	HP:0002643	Neonatal respiratory distress	0	ZMYND10 CL E G H	51364	19412	OMIM:615444	Ciliary dyskinesia, primary, 22		20
HP:0002643	HP:0002643	Neonatal respiratory distress	0	ZMYND10 CL E G H	51364	19412	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	20
HP:0002643	HP:0012768	Neonatal asphyxia	1	ALDH7A1 CL E G H	501	877	ORPHA:3006	Pyridoxine-dependent epilepsy	HP:0040283 - Occasional	227
HP:0002643	HP:0012768	Neonatal asphyxia	1	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040283 - Occasional	99
HP:0002643	HP:0012768	Neonatal asphyxia	1	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040283 - Occasional	167
HP:0002643	HP:0012768	Neonatal asphyxia	1	GALK1 CL E G H	2584	4118	ORPHA:79237	Galactokinase deficiency	HP:0040284 - Very rare	23
HP:0002643	HP:0012768	Neonatal asphyxia	1	HSD3B2 CL E G H	3284	5218	ORPHA:90791	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency	HP:0040283 - Occasional	34
HP:0002643	HP:0004875	Neonatal inspiratory stridor	1	KIF22 CL E G H	3835	6391	ORPHA:93360	Spondyloepimetaphyseal dysplasia with multiple dislocations	HP:0040283 - Occasional	14
HP:0002643	HP:0012768	Neonatal asphyxia	1	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040283 - Occasional	7
HP:0002643	HP:0012768	Neonatal asphyxia	1	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040283 - Occasional	19
HP:0002643	HP:0012768	Neonatal asphyxia	1	PLPBP CL E G H	11212	9457	ORPHA:3006	Pyridoxine-dependent epilepsy	HP:0040283 - Occasional	6
HP:0002643	HP:0012768	Neonatal asphyxia	1	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome	HP:0040283 - Occasional	7
HP:0002643	HP:0012768	Neonatal asphyxia	1	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040283 - Occasional	1200
HP:0002643	HP:0004875	Neonatal inspiratory stridor	1	SCN4A CL E G H	6329	10591	ORPHA:684	Paramyotonia congenita of Von Eulenburg	HP:0040282 - Frequent	263
HP:0002643	HP:0012768	Neonatal asphyxia	1	SHPK CL E G H	23729	1492	ORPHA:440713	Isolated sedoheptulokinase deficiency	HP:0040280 - Obligate	2
HP:0002643	HP:0012768	Neonatal asphyxia	1	SLC27A4 CL E G H	10999	10998	OMIM:608649	ICHTHYOSIS PREMATURITY SYNDROME; IPS		26
HP:0002643	HP:0012768	Neonatal asphyxia	1	SMARCA2 CL E G H	6595	11098	ORPHA:2728	Blepharophimosis-intellectual disability syndrome, Ohdo type	HP:0040282 - Frequent	146

Genes (144) :ABCA3 ABCB11 ABCB4 ALDH1A2 ALDH7A1 ALG14 ARSL ASCC1 ASXL1 ATP8B1 BIN1 CANT1 CCDC103 CCDC39 CCDC40 CCDC65 CCNO CFAP221 CFAP298 CFAP300 CHRNG COLQ COX14 COX6A2 CPT2 CSGALNACT1 CUL7 DMPK DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB13 DNAJC21 DNAL1 DNM1L DNM2 DPM2 DRC1 DST ENPP1 FBN1 FGFR3 FOXF1 FOXJ1 GALK1 GAS2L2 GAS8 GLUL GLYCTK GMPPA GNB2 GPC3 GPC4 GRM7 HACD1 HSD3B2 HYDIN HYMAI ITGA3 KAT6A KIAA0753 KIF22 KNSTRN LAMB2 LONP1 LRRC56 MADD MCIDAS MDFIC MLYCD MTM1 MTMR14 MYF6 MYH3 NALCN NDUFB10 NEK10 NKX2-1 NME8 NPC2 NPHS1 NR1H4 NSF ODAD1 ODAD2 ODAD3 ODAD4 OFD1 PAX2 PBX1 PDHA1 PEX1 PIK3CD PLAGL1 PLCB3 PLEC PLPBP PTCD3 RALGAPA1 RAPSN RNF168 RPGR RSPH1 RSPH3 RSPH4A RSPH9 RUNX2 RYR1 SBDS SCN4A SFTPB SHPK SLC27A4 SLC30A9 SMARCA2 SMPD4 SNAP25 SNRPB SOX9 SPAG1 SPEF2 SPOP SRP54 STK36 SUCLG1 TOR1A TRAF7 TRIP4 TRNT TTC12 UBE3B XYLT1 ZC4H2 ZMYND10

Diseases (111) :OMIM:610921 ORPHA:69665 OMIM:620025 OMIM:266100 ORPHA:3006 OMIM:619036 ORPHA:79345 OMIM:616867 OMIM:605039 ORPHA:169189 OMIM:251450 ORPHA:244 OMIM:613807 OMIM:613808 OMIM:615504 OMIM:615500 OMIM:618063 ORPHA:2990 OMIM:265000 ORPHA:98915 OMIM:619053 OMIM:619062 ORPHA:228308 OMIM:608836 OMIM:618870 OMIM:273750 ORPHA:589821 OMIM:300991 OMIM:608644 OMIM:612444 OMIM:617091 OMIM:260400 OMIM:614388 OMIM:615042 OMIM:615294 OMIM:614653 OMIM:208000 ORPHA:284979 OMIM:187600 OMIM:265380 OMIM:618699 ORPHA:79237 OMIM:610015 OMIM:220120 OMIM:615510 OMIM:619503 OMIM:312870 OMIM:618922 OMIM:619967 ORPHA:90791 OMIM:608647 ORPHA:96191 OMIM:614748 OMIM:616268 ORPHA:457193 OMIM:619479 ORPHA:93360 ORPHA:221139 ORPHA:79243 OMIM:619004 OMIM:619005 OMIM:620014 OMIM:248360 OMIM:310400 OMIM:616266 OMIM:619003 OMIM:618781 ORPHA:209905 OMIM:610978 OMIM:607625 OMIM:256300 OMIM:619340 OMIM:615451 ORPHA:97362 OMIM:214100 OMIM:618961 OMIM:226670 OMIM:619057 OMIM:618797 OMIM:616326 ORPHA:420741 OMIM:616481 OMIM:612649 OMIM:612650 OMIM:119600 ORPHA:597 ORPHA:684 ORPHA:217563 OMIM:265120 ORPHA:440713 OMIM:608649 ORPHA:88621 OMIM:617595 ORPHA:2728 OMIM:618622 OMIM:616330 ORPHA:1393 OMIM:117650 OMIM:114290 ORPHA:718 OMIM:615505 OMIM:618828 OMIM:245400 OMIM:618947 OMIM:618164 OMIM:616866 ORPHA:254857 OMIM:244450 OMIM:615777 OMIM:314580 OMIM:615444

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