Human Phenotype Ontology

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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:
Clinical course (HP:0031797)

Parent Node:
Onset (HP:0003674)

..Starting node
..Neonatal onset (HP:0003623)

Term ID:

3623

Name:

Neonatal onset

Synonym:

Neonatal onset; Onset in first weeks of life; Onset in neonatal period

Definition:

Onset of signs or symptoms of disease within the first 28 days of life.

Comments:

Reference:

HP:0003623

Genes and Diseases:

Child Nodes:

Sister Nodes:

Adult onset (HP:0003581)

Antenatal onset (HP:0030674)

Childhood onset (HP:0011463)

Congenital onset (HP:0003577)

Infantile onset (HP:0003593)

Juvenile onset (HP:0003621)

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:0003623	HP:0003623	Neonatal onset	0	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type		53
HP:0003623	HP:0003623	Neonatal onset	0	ABHD16A CL E G H	7920	13921	OMIM:619735	SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE; SPG86
HP:0003623	HP:0003623	Neonatal onset	0	ACADS CL E G H	35	90	OMIM:201470	Acyl-Coa dehydrogenase, short-chain, deficiency of	.	90
HP:0003623	HP:0003623	Neonatal onset	0	ACADVL CL E G H	37	92	OMIM:201475	Very long-chain acyl-CoA dehydrogenase deficiency		200
HP:0003623	HP:0003623	Neonatal onset	0	ADA CL E G H	100	186	OMIM:102700	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency		75
HP:0003623	HP:0003623	Neonatal onset	0	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome		22
HP:0003623	HP:0003623	Neonatal onset	0	ADAR CL E G H	103	225	OMIM:615010	Aicardi-Goutieres syndrome 6		116
HP:0003623	HP:0003623	Neonatal onset	0	ADK CL E G H	132	257	OMIM:614300	Hypermethioninemia due to adenosine kinase deficiency		26
HP:0003623	HP:0003623	Neonatal onset	0	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1		85
HP:0003623	HP:0003623	Neonatal onset	0	AKR1D1 CL E G H	6718	388	OMIM:235555	Bile acid synthesis defect, congenital, 2	.	62
HP:0003623	HP:0003623	Neonatal onset	0	ALDH7A1 CL E G H	501	877	OMIM:266100	Epilepsy, pyridoxine-dependent		227
HP:0003623	HP:0003623	Neonatal onset	0	AMACR CL E G H	23600	451	OMIM:214950	Bile acid synthesis defect, congenital, 4	.	44
HP:0003623	HP:0003623	Neonatal onset	0	ANK1 CL E G H	286	492	OMIM:182900	Spherocytosis, type 1		150
HP:0003623	HP:0003623	Neonatal onset	0	ANO1 CL E G H	55107	21625	OMIM:620045
HP:0003623	HP:0003623	Neonatal onset	0	AP3B2 CL E G H	8120	567	OMIM:617276	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE48		7
HP:0003623	HP:0003623	Neonatal onset	0	AQP2 CL E G H	359	634	OMIM:125800	Diabetes insipidus, nephrogenic, 2	.	75
HP:0003623	HP:0003623	Neonatal onset	0	ARG1 CL E G H	383	663	OMIM:207800	Argininemia		31
HP:0003623	HP:0003623	Neonatal onset	0	ARHGDIA CL E G H	396	678	OMIM:615244	Nephrotic syndrome, type 8	.	3
HP:0003623	HP:0003623	Neonatal onset	0	ARL13B CL E G H	200894	25419	OMIM:612291	JOUBERT SYNDROME 8; JBTS8		62
HP:0003623	HP:0003623	Neonatal onset	0	ARX CL E G H	170302	18060	OMIM:308350	Developmental and epileptic encephalopathy 1		166
HP:0003623	HP:0003623	Neonatal onset	0	ASL CL E G H	435	746	OMIM:207900	Argininosuccinic aciduria	.	81
HP:0003623	HP:0003623	Neonatal onset	0	ASNS CL E G H	440	753	OMIM:615574	Asparagine synthetase deficiency		17
HP:0003623	HP:0003623	Neonatal onset	0	ASS1 CL E G H	445	758	OMIM:215700	Citrullinemia, classic	.	119
HP:0003623	HP:0003623	Neonatal onset	0	ATP11A CL E G H	23250	13552	OMIM:619851	LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24
HP:0003623	HP:0003623	Neonatal onset	0	ATP13A3 CL E G H	79572	24113	OMIM:265400	Pulmonary hypertension, primary, autosomal recessive
HP:0003623	HP:0003623	Neonatal onset	0	ATP1A1 CL E G H	476	799	OMIM:618314	Hypomagnesemia, seizures, and mental retardation 2		4
HP:0003623	HP:0003623	Neonatal onset	0	ATP1A2 CL E G H	477	800	OMIM:619605	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98; DEE98		239
HP:0003623	HP:0003623	Neonatal onset	0	ATP1A3 CL E G H	478	801	OMIM:619606	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99		150
HP:0003623	HP:0003623	Neonatal onset	0	ATP2A1 CL E G H	487	811	OMIM:601003	BRODY MYOPATHY		80
HP:0003623	HP:0003623	Neonatal onset	0	ATP5F1D CL E G H	513	837	OMIM:618120	Mitochondrial complex V (atp synthase) deficiency, nuclear type 5
HP:0003623	HP:0003623	Neonatal onset	0	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47		5
HP:0003623	HP:0003623	Neonatal onset	0	ATP6AP2 CL E G H	10159	18305	OMIM:300423	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH		36
HP:0003623	HP:0003623	Neonatal onset	0	ATP6V0A1 CL E G H	535	865	OMIM:619971			1
HP:0003623	HP:0003623	Neonatal onset	0	ATP6V0A4 CL E G H	50617	866	OMIM:602722	RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE; RTADR		64
HP:0003623	HP:0003623	Neonatal onset	0	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26		61
HP:0003623	HP:0003623	Neonatal onset	0	AVPR2 CL E G H	554	897	OMIM:304800	Diabetes insipidus, nephrogenic, X-linked	.	67
HP:0003623	HP:0003623	Neonatal onset	0	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3		276
HP:0003623	HP:0003623	Neonatal onset	0	BRAT1 CL E G H	221927	21701	OMIM:614498	Rigidity and multifocal seizure syndrome, lethal neonatal		20
HP:0003623	HP:0003623	Neonatal onset	0	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked		109
HP:0003623	HP:0003623	Neonatal onset	0	C2ORF69 CL E G H	205327	26799	OMIM:619423	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53; COXPD53
HP:0003623	HP:0003623	Neonatal onset	0	CACNA1C CL E G H	775	1390	OMIM:620029			572
HP:0003623	HP:0003623	Neonatal onset	0	CACNA2D2 CL E G H	9254	1400	OMIM:618501	Cerebellar atrophy with seizures and variable developmental delay		48
HP:0003623	HP:0003623	Neonatal onset	0	CALM2 CL E G H	805	1445	OMIM:616249	Long QT syndrome 15		13
HP:0003623	HP:0003623	Neonatal onset	0	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58		3
HP:0003623	HP:0003623	Neonatal onset	0	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7		11
HP:0003623	HP:0003623	Neonatal onset	0	CBS CL E G H	875	1550	OMIM:236200	Homocystinuria due to cystathionine beta-synthase deficiency		242
HP:0003623	HP:0003623	Neonatal onset	0	CCDC78 CL E G H	124093	14153	OMIM:614807	Myopathy, centronuclear, 4		25
HP:0003623	HP:0003623	Neonatal onset	0	CD320 CL E G H	51293	16692	OMIM:613646	METHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT		16
HP:0003623	HP:0003623	Neonatal onset	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0003623	HP:0003623	Neonatal onset	0	CDSN CL E G H	1041	1802	OMIM:270300	Peeling skin syndrome 1		7
HP:0003623	HP:0003623	Neonatal onset	0	CELF2 CL E G H	10659	2550	OMIM:619561	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 97; DEE97
HP:0003623	HP:0003623	Neonatal onset	0	CFAP410 CL E G H	755	1260	OMIM:602271	Spondylometaphyseal dysplasia, axial
HP:0003623	HP:0003623	Neonatal onset	0	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40		16
HP:0003623	HP:0003623	Neonatal onset	0	CHAT CL E G H	1103	1912	OMIM:254210	Myasthenic syndrome, congenital, 6, presynaptic		65
HP:0003623	HP:0003623	Neonatal onset	0	CHRND CL E G H	1144	1965	OMIM:616323	Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency		88
HP:0003623	HP:0003623	Neonatal onset	0	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1		27
HP:0003623	HP:0003623	Neonatal onset	0	CIC CL E G H	23152	14214	OMIM:617600	Mental retardation, autosomal dominant 45		39
HP:0003623	HP:0003623	Neonatal onset	0	CLCN3 CL E G H	1182	2021	OMIM:619517	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA		2
HP:0003623	HP:0003623	Neonatal onset	0	CLCN7 CL E G H	1186	2025	OMIM:611490	Osteopetrosis, autosomal recessive 4		102
HP:0003623	HP:0003623	Neonatal onset	0	CLPB CL E G H	81570	30664	OMIM:619835	3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA; MGCA7A		38
HP:0003623	HP:0003623	Neonatal onset	0	COL12A1 CL E G H	1303	2188	OMIM:616470	ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2; UCMD2		65
HP:0003623	HP:0003623	Neonatal onset	0	COL7A1 CL E G H	1294	2214	OMIM:131705	Transient bullous dermolysis of the newborn		263
HP:0003623	HP:0003623	Neonatal onset	0	COX10 CL E G H	1352	2260	OMIM:619046	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3		82
HP:0003623	HP:0003623	Neonatal onset	0	COX16 CL E G H	51241	20213	OMIM:619355	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0003623	HP:0003623	Neonatal onset	0	COX4I2 CL E G H	84701	16232	OMIM:612714	Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarialhyperostosis		13
HP:0003623	HP:0003623	Neonatal onset	0	CPS1 CL E G H	1373	2323	OMIM:237300	Carbamoyl phosphate synthetase I deficiency, hyperammonemia due to		124
HP:0003623	HP:0003623	Neonatal onset	0	CTNNB1 CL E G H	1499	2514	OMIM:615075	Neurodevelopmental disorder with spastic diplegia and visual defects		88
HP:0003623	HP:0003623	Neonatal onset	0	CYP11B1 CL E G H	1584	2591	OMIM:202010	Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency	.	112
HP:0003623	HP:0003623	Neonatal onset	0	CYP11B2 CL E G H	1585	2592	OMIM:203400	Corticosterone methyloxidase type I deficiency	.	73
HP:0003623	HP:0003623	Neonatal onset	0	CYP11B2 CL E G H	1585	2592	OMIM:610600	Hypoaldosteronism, congenital, due to CMO II deficiency	.	73
HP:0003623	HP:0003623	Neonatal onset	0	CYP7B1 CL E G H	9420	2652	OMIM:613812	Bile acid synthesis defect, congenital, 3	.	57
HP:0003623	HP:0003623	Neonatal onset	0	DCDC2 CL E G H	51473	18141	OMIM:617394	Sclerosing cholangitis, neonatal		8
HP:0003623	HP:0003623	Neonatal onset	0	DCN CL E G H	1634	2705	OMIM:610048	Corneal dystrophy, congenital stromal		31
HP:0003623	HP:0003623	Neonatal onset	0	DGAT1 CL E G H	8694	2843	OMIM:615863	Diarrhea 7, protein-losing Enteropathy type		9
HP:0003623	HP:0003623	Neonatal onset	0	DGUOK CL E G H	1716	2858	OMIM:251880	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)		57
HP:0003623	HP:0003623	Neonatal onset	0	DNAH5 CL E G H	1767	2950	OMIM:608644	CILIARY DYSKINESIA, PRIMARY, 3; CILD3		527
HP:0003623	HP:0003623	Neonatal onset	0	DNAI2 CL E G H	64446	18744	OMIM:612444	CILIARY DYSKINESIA, PRIMARY, 9; CILD9		104
HP:0003623	HP:0003623	Neonatal onset	0	DNAL1 CL E G H	83544	23247	OMIM:614017	CILIARY DYSKINESIA, PRIMARY, 16; CILD16		167
HP:0003623	HP:0003623	Neonatal onset	0	DNASE2 CL E G H	1777	2960	OMIM:619858
HP:0003623	HP:0003623	Neonatal onset	0	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1		94
HP:0003623	HP:0003623	Neonatal onset	0	DOCK2 CL E G H	1794	2988	OMIM:616433	Immunodeficiency 40		6
HP:0003623	HP:0003623	Neonatal onset	0	DOHH CL E G H	83475	28662	OMIM:620066
HP:0003623	HP:0003623	Neonatal onset	0	DRC1 CL E G H	92749	24245	OMIM:615294	CILIARY DYSKINESIA, PRIMARY, 21; CILD21		44
HP:0003623	HP:0003623	Neonatal onset	0	DUT CL E G H	1854	3078	OMIM:620044
HP:0003623	HP:0003623	Neonatal onset	0	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0003623	HP:0003623	Neonatal onset	0	EEF1A2 CL E G H	1917	3192	OMIM:616409	Epileptic encephalopathy, early infantile, 33		60
HP:0003623	HP:0003623	Neonatal onset	0	EIF3F CL E G H	8665	3275	OMIM:618295	Intellectual developmental disorder, autosomal recessive 67
HP:0003623	HP:0003623	Neonatal onset	0	ENPP1 CL E G H	5167	3356	OMIM:208000	Arterial calcification, generalized, of infancy, 1		151
HP:0003623	HP:0003623	Neonatal onset	0	ERCC5 CL E G H	2073	3437	OMIM:278780	Xeroderma pigmentosum, complementation group G		83
HP:0003623	HP:0003623	Neonatal onset	0	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities		3
HP:0003623	HP:0003623	Neonatal onset	0	F13A1 CL E G H	2162	3531	OMIM:613225	Factor XIII, A subunit, deficiency of		60
HP:0003623	HP:0003623	Neonatal onset	0	FARS2 CL E G H	10667	21062	OMIM:614946	Combined oxidative phosphorylation deficiency 14		36
HP:0003623	HP:0003623	Neonatal onset	0	FGF13 CL E G H	2258	3670	OMIM:301058	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE90		1
HP:0003623	HP:0003623	Neonatal onset	0	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0003623	HP:0003623	Neonatal onset	0	FOXRED1 CL E G H	55572	26927	OMIM:618241	Mitochondrial complex I deficiency, nuclear type 19		61
HP:0003623	HP:0003623	Neonatal onset	0	FRMD5 CL E G H	84978	28214	OMIM:620094
HP:0003623	HP:0003623	Neonatal onset	0	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive		37
HP:0003623	HP:0003623	Neonatal onset	0	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89		44
HP:0003623	HP:0003623	Neonatal onset	0	GCDH CL E G H	2639	4189	OMIM:231670	Glutaric acidemia I		115
HP:0003623	HP:0003623	Neonatal onset	0	GGCX CL E G H	2677	4247	OMIM:277450	VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1		129
HP:0003623	HP:0003623	Neonatal onset	0	GJB2 CL E G H	2706	4284	OMIM:148210	Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant		199
HP:0003623	HP:0003623	Neonatal onset	0	GLRB CL E G H	2743	4329	OMIM:614619	Hyperekplexia 2		46
HP:0003623	HP:0003623	Neonatal onset	0	GLUD1 CL E G H	2746	4335	OMIM:606762	Hyperinsulinemic hypoglycemia, familial, 6		56
HP:0003623	HP:0003623	Neonatal onset	0	GLYCTK CL E G H	132158	24247	OMIM:220120	D-GLYCERIC ACIDURIA		6
HP:0003623	HP:0003623	Neonatal onset	0	GMPPA CL E G H	29926	22923	OMIM:615510	Alacrima, achalasia, and mental retardation syndrome		24
HP:0003623	HP:0003623	Neonatal onset	0	GMPPB CL E G H	29925	22932	OMIM:615351	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14		34
HP:0003623	HP:0003623	Neonatal onset	0	GPHN CL E G H	10243	15465	OMIM:615501	Molybdenum cofactor deficiency, complementation group C		18
HP:0003623	HP:0003623	Neonatal onset	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:0003623	HP:0003623	Neonatal onset	0	GRIN1 CL E G H	2902	4584	OMIM:619814	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 101; DEE101		108
HP:0003623	HP:0003623	Neonatal onset	0	GUF1 CL E G H	60558	25799	OMIM:617065	Epileptic encephalopathy, early infantile, 40		2
HP:0003623	HP:0003623	Neonatal onset	0	H1-4 CL E G H	3008	4718	OMIM:617537	Rahman syndrome
HP:0003623	HP:0003623	Neonatal onset	0	HACD1 CL E G H	9200	9639	OMIM:619967			2
HP:0003623	HP:0003623	Neonatal onset	0	HADH CL E G H	3033	4799	OMIM:609975	Hyperinsulinemic hypoglycemia, familial, 4		41
HP:0003623	HP:0003623	Neonatal onset	0	HADHA CL E G H	3030	4801	OMIM:609015	Mitochondrial trifunctional protein deficiency		99
HP:0003623	HP:0003623	Neonatal onset	0	HADHB CL E G H	3032	4803	OMIM:609015	Mitochondrial trifunctional protein deficiency		60
HP:0003623	HP:0003623	Neonatal onset	0	HDAC4 CL E G H	9759	14063	OMIM:619797	NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF		33
HP:0003623	HP:0003623	Neonatal onset	0	HID1 CL E G H	283987	15736	OMIM:619983
HP:0003623	HP:0003623	Neonatal onset	0	HNF4A CL E G H	3172	5024	OMIM:616026	Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young		138
HP:0003623	HP:0003623	Neonatal onset	0	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0003623	HP:0003623	Neonatal onset	0	HPS5 CL E G H	11234	17022	OMIM:614074	Hermansky-Pudlak syndrome 5		105
HP:0003623	HP:0003623	Neonatal onset	0	HR CL E G H	55806	5172	OMIM:203655	Alopecia universalis congenita		106
HP:0003623	HP:0003623	Neonatal onset	0	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency		98
HP:0003623	HP:0003623	Neonatal onset	0	HSD3B7 CL E G H	80270	18324	OMIM:607765	Bile acid synthesis defect, congenital, 1	.	26
HP:0003623	HP:0003623	Neonatal onset	0	HSPD1 CL E G H	3329	5261	OMIM:612233	Leukodystrophy, hypomyelinating, 4	.	46
HP:0003623	HP:0003623	Neonatal onset	0	HTRA2 CL E G H	27429	14348	OMIM:617248	3-methylglutaconic aciduria, type VIII		39
HP:0003623	HP:0003623	Neonatal onset	0	HYDIN CL E G H	54768	19368	OMIM:608647	Ciliary dyskinesia, primary, 5		21
HP:0003623	HP:0003623	Neonatal onset	0	HYOU1 CL E G H	10525	16931	OMIM:233600	Immunodeficiency 59 and hypoglycemia
HP:0003623	HP:0003623	Neonatal onset	0	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7		28
HP:0003623	HP:0003623	Neonatal onset	0	IL1RN CL E G H	3557	6000	OMIM:612852	Interleukin 1 receptor antagonist deficiency		40
HP:0003623	HP:0003623	Neonatal onset	0	IL2RG CL E G H	3561	6010	OMIM:300400	Severe combined immunodeficiency, X-linked		48
HP:0003623	HP:0003623	Neonatal onset	0	IL36RN CL E G H	26525	15561	OMIM:614204	PSORIASIS 14, PUSTULAR; PSORS14		51
HP:0003623	HP:0003623	Neonatal onset	0	IRS4 CL E G H	8471	6128	OMIM:301035	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 9; CHNG9
HP:0003623	HP:0003623	Neonatal onset	0	ITGA2B CL E G H	3674	6138	OMIM:273800	Glanzmann thrombasthenia		69
HP:0003623	HP:0003623	Neonatal onset	0	ITGA3 CL E G H	3675	6139	OMIM:614748	Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital		6
HP:0003623	HP:0003623	Neonatal onset	0	ITGB2 CL E G H	3689	6155	OMIM:116920	Leukocyte adhesion deficiency, type I		114
HP:0003623	HP:0003623	Neonatal onset	0	ITGB3 CL E G H	3690	6156	OMIM:619267	GLANZMANN THROMBASTHENIA 2; GT2		80
HP:0003623	HP:0003623	Neonatal onset	0	KCNB1 CL E G H	3745	6231	OMIM:616056	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26; EIEE26		65
HP:0003623	HP:0003623	Neonatal onset	0	KCNC2 CL E G H	3747	6234	OMIM:619913
HP:0003623	HP:0003623	Neonatal onset	0	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2		51
HP:0003623	HP:0003623	Neonatal onset	0	KCNJ11 CL E G H	3767	6257	OMIM:610582	Diabetes mellitus, transient neonatal, 3	HP:0040283 - Occasional	127
HP:0003623	HP:0003623	Neonatal onset	0	KCNJ11 CL E G H	3767	6257	OMIM:601820	Hyperinsulinemic hypoglycemia, familial, 2		127
HP:0003623	HP:0003623	Neonatal onset	0	KCNJ5 CL E G H	3762	6266	OMIM:613485	Long QT syndrome 13		128
HP:0003623	HP:0003623	Neonatal onset	0	KCNQ2 CL E G H	3785	6296	OMIM:121200	Seizures, benign familial neonatal, 1	.	528
HP:0003623	HP:0003623	Neonatal onset	0	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65		2
HP:0003623	HP:0003623	Neonatal onset	0	KIF12 CL E G H	113220	21495	OMIM:619662	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8; PFIC8		1
HP:0003623	HP:0003623	Neonatal onset	0	KRT14 CL E G H	3861	6416	OMIM:131760	Epidermolysis bullosa simplex, Dowling-Meara type	.	110
HP:0003623	HP:0003623	Neonatal onset	0	KRT5 CL E G H	3852	6442	OMIM:619555	EPIDERMOLYSIS BULLOSA SIMPLEX 2A, GENERALIZED SEVERE; EBS2A		173
HP:0003623	HP:0003623	Neonatal onset	0	KRT5 CL E G H	3852	6442	OMIM:609352	EPIDERMOLYSIS BULLOSA SIMPLEX WITH MIGRATORY CIRCINATE ERYTHEMA		173
HP:0003623	HP:0003623	Neonatal onset	0	KRT5 CL E G H	3852	6442	OMIM:131760	Epidermolysis bullosa simplex, Dowling-Meara type	.	173
HP:0003623	HP:0003623	Neonatal onset	0	KYNU CL E G H	8942	6469	OMIM:236800	HYDROXYKYNURENINURIA		5
HP:0003623	HP:0003623	Neonatal onset	0	LAMA3 CL E G H	3909	6483	OMIM:245660	Laryngoonychocutaneous syndrome		116
HP:0003623	HP:0003623	Neonatal onset	0	LAMB2 CL E G H	3913	6487	OMIM:609049	Pierson syndrome	.	92
HP:0003623	HP:0003623	Neonatal onset	0	LBX1 CL E G H	10660	16960	OMIM:619483	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 3; CCHS3
HP:0003623	HP:0003623	Neonatal onset	0	LCT CL E G H	3938	6530	OMIM:223000	Lactase deficiency, congenital		72
HP:0003623	HP:0003623	Neonatal onset	0	LIPT2 CL E G H	387787	37216	OMIM:617668	Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities		2
HP:0003623	HP:0003623	Neonatal onset	0	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type		46
HP:0003623	HP:0003623	Neonatal onset	0	LSS CL E G H	4047	6708	OMIM:618840	ALOPECIA-INTELLECTUAL DISABILITY SYNDROME 4; APMR4		2
HP:0003623	HP:0003623	Neonatal onset	0	LTBP1 CL E G H	4052	6714	OMIM:619451	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E
HP:0003623	HP:0003623	Neonatal onset	0	LYRM4 CL E G H	57128	21365	OMIM:615595	Combined oxidative phosphorylation deficiency 19		4
HP:0003623	HP:0003623	Neonatal onset	0	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome		239
HP:0003623	HP:0003623	Neonatal onset	0	MAG CL E G H	4099	6783	OMIM:616680	Spastic paraplegia 75, autosomal recessive		4
HP:0003623	HP:0003623	Neonatal onset	0	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome		63
HP:0003623	HP:0003623	Neonatal onset	0	MARS1 CL E G H	4141	6898	OMIM:615486	Interstitial lung and liver disease
HP:0003623	HP:0003623	Neonatal onset	0	MCIDAS CL E G H	345643	40050	OMIM:618695	CILIARY DYSKINESIA, PRIMARY, 42; CILD42		13
HP:0003623	HP:0003623	Neonatal onset	0	MDH2 CL E G H	4191	6971	OMIM:617339	Epileptic encephalopathy, early infantile, 51		4
HP:0003623	HP:0003623	Neonatal onset	0	MINPP1 CL E G H	9562	7102	OMIM:619527	PONTOCEREBELLAR HYPOPLASIA, TYPE 16; PCH16		3
HP:0003623	HP:0003623	Neonatal onset	0	MMAB CL E G H	326625	19331	OMIM:251110	Methylmalonic aciduria, Cblb type	.	127
HP:0003623	HP:0003623	Neonatal onset	0	MMUT CL E G H	4594	7526	OMIM:251000	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
HP:0003623	HP:0003623	Neonatal onset	0	MOCS2 CL E G H	4338	7193	OMIM:252160	Molybdenum cofactor deficiency, complementation group B		26
HP:0003623	HP:0003623	Neonatal onset	0	MPDU1 CL E G H	9526	7207	OMIM:609180	Congenital disorder of glycosylation, type IF		32
HP:0003623	HP:0003623	Neonatal onset	0	MRPL3 CL E G H	11222	10379	OMIM:614582	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD9		13
HP:0003623	HP:0003623	Neonatal onset	0	MRPS34 CL E G H	65993	16618	OMIM:617664	Combined oxidative phosphorylation deficiency 32		1
HP:0003623	HP:0003623	Neonatal onset	0	MYBPC3 CL E G H	4607	7551	OMIM:115197	Cardiomyopathy, familial hypertrophic, 4		1143
HP:0003623	HP:0003623	Neonatal onset	0	MYL2 CL E G H	4633	7583	OMIM:619424	MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12		131
HP:0003623	HP:0003623	Neonatal onset	0	MYO1H CL E G H	283446	13879	OMIM:619482	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2
HP:0003623	HP:0003623	Neonatal onset	0	MYO5B CL E G H	4645	7603	OMIM:251850	Diarrhea 2, with microvillous atrophy		192
HP:0003623	HP:0003623	Neonatal onset	0	NAA20 CL E G H	51126	15908	OMIM:619717	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0003623	HP:0003623	Neonatal onset	0	NDUFA11 CL E G H	126328	20371	OMIM:618236	Mitochondrial complex I deficiency, nuclear type 14		32
HP:0003623	HP:0003623	Neonatal onset	0	NDUFA9 CL E G H	4704	7693	OMIM:618247	Mitochondrial complex I deficiency, nuclear type 26		27
HP:0003623	HP:0003623	Neonatal onset	0	NDUFAF3 CL E G H	25915	29918	OMIM:618240	Mitochondrial complex I deficiency, nuclear type 18		31
HP:0003623	HP:0003623	Neonatal onset	0	NDUFS8 CL E G H	4728	7715	OMIM:618222	Mitochondrial complex I deficiency, nuclear type 2		42
HP:0003623	HP:0003623	Neonatal onset	0	NEUROG3 CL E G H	50674	13806	OMIM:610370	Diarrhea 4, malabsorptive, congenital	.	5
HP:0003623	HP:0003623	Neonatal onset	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0003623	HP:0003623	Neonatal onset	0	NFIX CL E G H	4784	7788	OMIM:614753	Sotos syndrome 2		40
HP:0003623	HP:0003623	Neonatal onset	0	NFU1 CL E G H	27247	16287	OMIM:605711	Multiple mitochondrial dysfunctions syndrome 1		34
HP:0003623	HP:0003623	Neonatal onset	0	NHLRC2 CL E G H	374354	24731	OMIM:618278	Fibrosis, neurodegeneration, and cerebral angiomatosis
HP:0003623	HP:0003623	Neonatal onset	0	NKX2-1 CL E G H	7080	11825	OMIM:610978	Choreoathetosis, hypothyroidism, and neonatal respiratory distress		51
HP:0003623	HP:0003623	Neonatal onset	0	NLRC4 CL E G H	58484	16412	OMIM:616050	AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC		30
HP:0003623	HP:0003623	Neonatal onset	0	NLRP12 CL E G H	91662	22938	OMIM:611762	Familial cold autoinflammatory syndrome 2		99
HP:0003623	HP:0003623	Neonatal onset	0	NLRP3 CL E G H	114548	16400	OMIM:607115	CINCA SYNDROME; CINCA		217
HP:0003623	HP:0003623	Neonatal onset	0	NOS1AP CL E G H	9722	16859	OMIM:619155	NEPHROTIC SYNDROME, TYPE 22; NPHS22		4
HP:0003623	HP:0003623	Neonatal onset	0	NPC2 CL E G H	10577	14537	OMIM:607625	Niemann-pick disease, type C2		33
HP:0003623	HP:0003623	Neonatal onset	0	NR0B1 CL E G H	190	7960	OMIM:300200	Adrenal hypoplasia, congenital		48
HP:0003623	HP:0003623	Neonatal onset	0	NR1H4 CL E G H	9971	7967	OMIM:617049	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC5		14
HP:0003623	HP:0003623	Neonatal onset	0	NR3C2 CL E G H	4306	7979	OMIM:177735	Pseudohypoaldosteronism, type I, autosomal dominant		109
HP:0003623	HP:0003623	Neonatal onset	0	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1		544
HP:0003623	HP:0003623	Neonatal onset	0	NSRP1 CL E G H	84081	25305	OMIM:620001
HP:0003623	HP:0003623	Neonatal onset	0	NUDT2 CL E G H	318	8049	OMIM:619844
HP:0003623	HP:0003623	Neonatal onset	0	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria		23
HP:0003623	HP:0003623	Neonatal onset	0	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5		73
HP:0003623	HP:0003623	Neonatal onset	0	OTC CL E G H	5009	8512	OMIM:311250	Ornithine transcarbamylase deficiency, hyperammonemia due to		369
HP:0003623	HP:0003623	Neonatal onset	0	OTX2 CL E G H	5015	8522	OMIM:613986	Pituitary hormone deficiency, combined, 6		41
HP:0003623	HP:0003623	Neonatal onset	0	OXCT1 CL E G H	5019	8527	OMIM:245050	Succinyl CoA:3-oxoacid CoA transferase deficiency		52
HP:0003623	HP:0003623	Neonatal onset	0	PAX8 CL E G H	7849	8622	OMIM:218700	Hypothyroidism, congenital, nongoitrous, 2		63
HP:0003623	HP:0003623	Neonatal onset	0	PCDHGC4 CL E G H	56098	8717	OMIM:619880
HP:0003623	HP:0003623	Neonatal onset	0	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)		169
HP:0003623	HP:0003623	Neonatal onset	0	PHOX2B CL E G H	8929	9143	OMIM:209880	Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease		86
HP:0003623	HP:0003623	Neonatal onset	0	PIGP CL E G H	51227	3046	OMIM:617599	Epileptic encephalopathy, early infantile, 55	.	2
HP:0003623	HP:0003623	Neonatal onset	0	PIGU CL E G H	128869	15791	OMIM:618590	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0003623	HP:0003623	Neonatal onset	0	PKHD1 CL E G H	5314	9016	OMIM:263200	Polycystic kidney disease 4 with or without polycystic liver disease		563
HP:0003623	HP:0003623	Neonatal onset	0	PLPBP CL E G H	11212	9457	OMIM:617290	Epilepsy, early-onset, vitamin b6-dependent		6
HP:0003623	HP:0003623	Neonatal onset	0	PLXNA1 CL E G H	5361	9099	OMIM:619955
HP:0003623	HP:0003623	Neonatal onset	0	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia		150
HP:0003623	HP:0003623	Neonatal onset	0	POMP CL E G H	51371	20330	OMIM:618048	Proteasome-Associated autoinflammatory syndrome 2		2
HP:0003623	HP:0003623	Neonatal onset	0	PPCS CL E G H	79717	25686	OMIM:618189	Cardiomyopathy, dilated, 2C
HP:0003623	HP:0003623	Neonatal onset	0	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0003623	HP:0003623	Neonatal onset	0	PROC CL E G H	5624	9451	OMIM:612304	Thrombophilia due to protein C deficiency, autosomal recessive		65
HP:0003623	HP:0003623	Neonatal onset	0	PSAT1 CL E G H	29968	19129	OMIM:610992	Phosphoserine aminotransferase deficiency		27
HP:0003623	HP:0003623	Neonatal onset	0	PSMB10 CL E G H	5699	9538	OMIM:619175	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 5; PRAAS5
HP:0003623	HP:0003623	Neonatal onset	0	PURA CL E G H	5813	9701	OMIM:616158	Mental retardation, autosomal dominant 31		53
HP:0003623	HP:0003623	Neonatal onset	0	PXDN CL E G H	7837	14966	OMIM:269400	Corneal opacification with other ocular anomalies		22
HP:0003623	HP:0003623	Neonatal onset	0	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48		3
HP:0003623	HP:0003623	Neonatal onset	0	RBCK1 CL E G H	10616	15864	OMIM:615895	Polyglucosan body myopathy 1 with or without immunodeficiency		10
HP:0003623	HP:0003623	Neonatal onset	0	RBL2 CL E G H	5934	9894	OMIM:619690	BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG
HP:0003623	HP:0003623	Neonatal onset	0	RIPK1 CL E G H	8737	10019	OMIM:618108	IMMUNODEFICIENCY 57; IMD57
HP:0003623	HP:0003623	Neonatal onset	0	RIPOR2 CL E G H	9750	13872	OMIM:607017	Deafness, autosomal dominant 21		1
HP:0003623	HP:0003623	Neonatal onset	0	RP1L1 CL E G H	94137	15946	OMIM:618826	RETINITIS PIGMENTOSA 88; RP88		284
HP:0003623	HP:0003623	Neonatal onset	0	RPL3L CL E G H	6123	10351	OMIM:619371	CARDIOMYOPATHY, DILATED, 2D; CMD2D
HP:0003623	HP:0003623	Neonatal onset	0	RRM2B CL E G H	50484	17296	OMIM:612075	Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)		125
HP:0003623	HP:0003623	Neonatal onset	0	RYR1 CL E G H	6261	10483	OMIM:117000	Central core disease		1200
HP:0003623	HP:0003623	Neonatal onset	0	RYR1 CL E G H	6261	10483	OMIM:255320	Minicore myopathy with external ophthalmoplegia	.	1200
HP:0003623	HP:0003623	Neonatal onset	0	SCN3A CL E G H	6328	10590	OMIM:617935	Epilepsy, familial focal, with variable foci 4		70
HP:0003623	HP:0003623	Neonatal onset	0	SCN3A CL E G H	6328	10590	OMIM:617938	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62; EIEE62		70
HP:0003623	HP:0003623	Neonatal onset	0	SCN4A CL E G H	6329	10591	OMIM:608390	Myotonia, potassium-aggravated		263
HP:0003623	HP:0003623	Neonatal onset	0	SCN8A CL E G H	6334	10596	OMIM:614306	Cognitive impairment with or without cerebellar ataxia		357
HP:0003623	HP:0003623	Neonatal onset	0	SCN8A CL E G H	6334	10596	OMIM:614558	Epileptic encephalopathy, early infantile, 13		357
HP:0003623	HP:0003623	Neonatal onset	0	SCN9A CL E G H	6335	10597	OMIM:167400	Paroxysmal extreme pain disorder	.	318
HP:0003623	HP:0003623	Neonatal onset	0	SCNN1A CL E G H	6337	10599	OMIM:264350	Pseudohypoaldosteronism, type I, autosomal recessive		67
HP:0003623	HP:0003623	Neonatal onset	0	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1		40
HP:0003623	HP:0003623	Neonatal onset	0	SECISBP2 CL E G H	79048	30972	OMIM:609698	Thyroid hormone metabolism, abnormal		3
HP:0003623	HP:0003623	Neonatal onset	0	SELENOI CL E G H	85465	29361	OMIM:618768	SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81
HP:0003623	HP:0003623	Neonatal onset	0	SELENON CL E G H	57190	15999	OMIM:602771	Rigid spine muscular dystrophy 1		144
HP:0003623	HP:0003623	Neonatal onset	0	SFTPB CL E G H	6439	10801	OMIM:265120	Surfactant metabolism dysfunction, pulmonary, 1		51
HP:0003623	HP:0003623	Neonatal onset	0	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome		134
HP:0003623	HP:0003623	Neonatal onset	0	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0003623	HP:0003623	Neonatal onset	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0003623	HP:0003623	Neonatal onset	0	SKIC2 CL E G H	6499	10898	OMIM:614602	Trichohepatoenteric syndrome 2
HP:0003623	HP:0003623	Neonatal onset	0	SLC10A1 CL E G H	6554	10905	OMIM:619256	HYPERCHOLANEMIA, FAMILIAL, 2; FHCA2
HP:0003623	HP:0003623	Neonatal onset	0	SLC10A2 CL E G H	6555	10906	OMIM:613291	Bile acid malabsorption, primary		6
HP:0003623	HP:0003623	Neonatal onset	0	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy		163
HP:0003623	HP:0003623	Neonatal onset	0	SLC1A2 CL E G H	6506	10940	OMIM:617105	Epileptic encephalopathy, early infantile, 41	.	3
HP:0003623	HP:0003623	Neonatal onset	0	SLC25A1 CL E G H	6576	10979	OMIM:618197	Myasthenic syndrome, congenital, 23, presynaptic		28
HP:0003623	HP:0003623	Neonatal onset	0	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm		27
HP:0003623	HP:0003623	Neonatal onset	0	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic		110
HP:0003623	HP:0003623	Neonatal onset	0	SLC38A3 CL E G H	10991	18044	OMIM:619881
HP:0003623	HP:0003623	Neonatal onset	0	SLC39A7 CL E G H	7922	4927	OMIM:619693	AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE; AGM9
HP:0003623	HP:0003623	Neonatal onset	0	SLC51B CL E G H	123264	29956	OMIM:619481	BILE ACID MALABSORPTION, PRIMARY, 2; PBAM2
HP:0003623	HP:0003623	Neonatal onset	0	SLC5A1 CL E G H	6523	11036	OMIM:606824	Glucose/galactose malabsorption		74
HP:0003623	HP:0003623	Neonatal onset	0	SLC6A3 CL E G H	6531	11049	OMIM:613135	Parkinsonism-Dystonia, infantile, 1		13
HP:0003623	HP:0003623	Neonatal onset	0	SLC6A5 CL E G H	9152	11051	OMIM:614618	Hyperekplexia 3		81
HP:0003623	HP:0003623	Neonatal onset	0	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome		146
HP:0003623	HP:0003623	Neonatal onset	0	SMARCAD1 CL E G H	56916	18398	OMIM:129200	Basan syndrome		6
HP:0003623	HP:0003623	Neonatal onset	0	SMN1 CL E G H	6606	11117	OMIM:253300	Spinal muscular atrophy, type I		22
HP:0003623	HP:0003623	Neonatal onset	0	SNX14 CL E G H	57231	14977	OMIM:616354	Spinocerebellar ataxia, autosomal recessive 20		14
HP:0003623	HP:0003623	Neonatal onset	0	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease		61
HP:0003623	HP:0003623	Neonatal onset	0	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27		14
HP:0003623	HP:0003623	Neonatal onset	0	SPATA7 CL E G H	55812	20423	OMIM:604232	LEBER CONGENITAL AMAUROSIS 3; LCA3		48
HP:0003623	HP:0003623	Neonatal onset	0	SPTBN4 CL E G H	57731	14896	OMIM:617519	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness		3
HP:0003623	HP:0003623	Neonatal onset	0	STAG1 CL E G H	10274	11354	OMIM:617635	Mental retardation, autosomal dominant 47		9
HP:0003623	HP:0003623	Neonatal onset	0	STAT3 CL E G H	6774	11364	OMIM:615952	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1		110
HP:0003623	HP:0003623	Neonatal onset	0	STING1 CL E G H	340061	27962	OMIM:615934	STING-associated vasculopathy, infantile-onset
HP:0003623	HP:0003623	Neonatal onset	0	STS CL E G H	412	11425	OMIM:308100	Ichthyosis, X-linked		19
HP:0003623	HP:0003623	Neonatal onset	0	STT3A CL E G H	3703	6172	OMIM:619714	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD		21
HP:0003623	HP:0003623	Neonatal onset	0	STX3 CL E G H	6809	11438	OMIM:619446	RETINAL DYSTROPHY AND MICROVILLUS INCLUSION DISEASE; RDMVID		1
HP:0003623	HP:0003623	Neonatal onset	0	STXBP1 CL E G H	6812	11444	OMIM:612164	Epileptic encephalopathy, early infantile, 4	.	237
HP:0003623	HP:0003623	Neonatal onset	0	SUCLG1 CL E G H	8802	11449	OMIM:245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)		60
HP:0003623	HP:0003623	Neonatal onset	0	SUOX CL E G H	6821	11460	OMIM:272300	SULFOCYSTEINURIA		40
HP:0003623	HP:0003623	Neonatal onset	0	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0003623	HP:0003623	Neonatal onset	0	TJP2 CL E G H	9414	11828	OMIM:615878	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 4; PFIC4		149
HP:0003623	HP:0003623	Neonatal onset	0	TMEM240 CL E G H	339453	25186	OMIM:607454	Spinocerebellar ataxia 21		9
HP:0003623	HP:0003623	Neonatal onset	0	TMEM38B CL E G H	55151	25535	OMIM:615066	OSTEOGENESIS IMPERFECTA, TYPE XIV; OI14		4
HP:0003623	HP:0003623	Neonatal onset	0	TNFRSF11A CL E G H	8792	11908	OMIM:612301	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7		72
HP:0003623	HP:0003623	Neonatal onset	0	TNFSF11 CL E G H	8600	11926	OMIM:259710	Osteopetrosis, autosomal recessive 2		44
HP:0003623	HP:0003623	Neonatal onset	0	TNNT1 CL E G H	7138	11948	OMIM:605355	NEMALINE MYOPATHY 5; NEM5		37
HP:0003623	HP:0003623	Neonatal onset	0	TOR1A CL E G H	1861	3098	OMIM:128100	Dystonia 1, torsion, autosomal dominant		47
HP:0003623	HP:0003623	Neonatal onset	0	TP73 CL E G H	7161	12003	OMIM:619466	CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY; CILD47
HP:0003623	HP:0003623	Neonatal onset	0	TPI1 CL E G H	7167	12009	OMIM:615512	Triosephosphate isomerase deficiency		28
HP:0003623	HP:0003623	Neonatal onset	0	TPM1 CL E G H	7168	12010	OMIM:611878	Cardiomyopathy, dilated, 1Y		230
HP:0003623	HP:0003623	Neonatal onset	0	TRAPPC4 CL E G H	51399	19943	OMIM:618741	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY; NEDESBA		1
HP:0003623	HP:0003623	Neonatal onset	0	TRMT5 CL E G H	57570	23141	OMIM:616539	Combined oxidative phosphorylation deficiency 26		4
HP:0003623	HP:0003623	Neonatal onset	0	TRMU CL E G H	55687	25481	OMIM:613070	Liver failure, infantile, transient		101
HP:0003623	HP:0003623	Neonatal onset	0	TRNT1 CL E G H	51095	17341	OMIM:616084	SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD		28
HP:0003623	HP:0003623	Neonatal onset	0	TRPV4 CL E G H	59341	18083	OMIM:156530	Metatropic dysplasia		214
HP:0003623	HP:0003623	Neonatal onset	0	TSPYL1 CL E G H	7259	12382	OMIM:608800	Sudden infant death with dysgenesis of the testes syndrome		1
HP:0003623	HP:0003623	Neonatal onset	0	UFSP2 CL E G H	55325	25640	OMIM:620028			2
HP:0003623	HP:0003623	Neonatal onset	0	UGT1A1 CL E G H	54658	12530	OMIM:237900	Hyperbilirubinemia, familial transient neonatal		73
HP:0003623	HP:0003623	Neonatal onset	0	UNC13D CL E G H	201294	23147	OMIM:608898	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3		116
HP:0003623	HP:0003623	Neonatal onset	0	UPF3B CL E G H	65109	20439	OMIM:300676	MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14		33
HP:0003623	HP:0003623	Neonatal onset	0	UQCC2 CL E G H	84300	21237	OMIM:615824	Mitochondrial complex III deficiency, nuclear type 7		7
HP:0003623	HP:0003623	Neonatal onset	0	USP18 CL E G H	11274	12616	OMIM:617397	Pseudo-Torch syndrome 2		2
HP:0003623	HP:0003623	Neonatal onset	0	USP53 CL E G H	54532	29255	OMIM:619658	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 7, WITH OR WITHOUT HEARING LOSS; PFIC7
HP:0003623	HP:0003623	Neonatal onset	0	VARS2 CL E G H	57176	21642	OMIM:615917	Combined oxidative phosphorylation deficiency 20		56
HP:0003623	HP:0003623	Neonatal onset	0	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A		104
HP:0003623	HP:0003623	Neonatal onset	0	VIPAS39 CL E G H	63894	20347	OMIM:613404	Arthrogryposis, renal dysfunction, and cholestasis 2		27
HP:0003623	HP:0003623	Neonatal onset	0	VPS50 CL E G H	55610	25956	OMIM:619685	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS; NEDMSC
HP:0003623	HP:0003623	Neonatal onset	0	WARS2 CL E G H	10352	12730	OMIM:619738	PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET; PKDYS3		2
HP:0003623	HP:0003623	Neonatal onset	0	WASHC4 CL E G H	23325	29174	OMIM:615817	Mental retardation, autosomal recessive 43		25
HP:0003623	HP:0003623	Neonatal onset	0	WDR45B CL E G H	56270	25072	OMIM:617977	Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures		1
HP:0003623	HP:0003623	Neonatal onset	0	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome		17

Genes (301) :ABCD4 ABHD16A ACADS ACADVL ADA ADA2 ADAR ADK AGPAT2 AKR1D1 ALDH7A1 AMACR ANK1 ANO1 AP3B2 AQP2 ARG1 ARHGDIA ARL13B ARX ASL ASNS ASS1 ATP11A ATP13A3 ATP1A1 ATP1A2 ATP1A3 ATP2A1 ATP5F1D ATP6AP1 ATP6AP2 ATP6V0A1 ATP6V0A4 AUTS2 AVPR2 BRAF BRAT1 BTK C2ORF69 CACNA1C CACNA2D2 CALM2 CARMIL2 CAV1 CBS CCDC78 CD320 CDC42BPB CDSN CELF2 CFAP410 CHAMP1 CHAT CHRND CHST14 CIC CLCN3 CLCN7 CLPB COL12A1 COL7A1 COX10 COX16 COX4I2 CPS1 CTNNB1 CYP11B1 CYP11B2 CYP7B1 DCDC2 DCN DGAT1 DGUOK DNAH5 DNAI2 DNAL1 DNASE2 DNM1L DOCK2 DOHH DRC1 DUT EBF3 EEF1A2 EIF3F ENPP1 ERCC5 EXTL3 F13A1 FARS2 FGF13 FOCAD FOXRED1 FRMD5 G6PC3 GAD1 GCDH GGCX GJB2 GLRB GLUD1 GLYCTK GMPPA GMPPB GPHN GRIK2 GRIN1 GUF1 H1-4 HACD1 HADH HADHA HADHB HDAC4 HID1 HNF4A HPDL HPS5 HR HSD17B4 HSD3B7 HSPD1 HTRA2 HYDIN HYOU1 IFIH1 IL1RN IL2RG IL36RN IRS4 ITGA2B ITGA3 ITGB2 ITGB3 KCNB1 KCNC2 KCNJ1 KCNJ11 KCNJ5 KCNQ2 KDM5B KIF12 KRT14 KRT5 KYNU LAMA3 LAMB2 LBX1 LCT LIPT2 LMBRD1 LSS LTBP1 LYRM4 LYST MAG MAGEL2 MARS1 MCIDAS MDH2 MINPP1 MMAB MMUT MOCS2 MPDU1 MRPL3 MRPS34 MYBPC3 MYL2 MYO1H MYO5B NAA20 NDUFA11 NDUFA9 NDUFAF3 NDUFS8 NEUROG3 NFIX NFU1 NHLRC2 NKX2-1 NLRC4 NLRP12 NLRP3 NOS1AP NPC2 NR0B1 NR1H4 NR3C2 NSD1 NSRP1 NUDT2 OCLN OSTM1 OTC OTX2 OXCT1 PAX8 PCDHGC4 PEX1 PHOX2B PIGP PIGU PKHD1 PLPBP PLXNA1 PMM2 POMP PPCS PPP1R21 PROC PSAT1 PSMB10 PURA PXDN RAC1 RBCK1 RBL2 RIPK1 RIPOR2 RP1L1 RPL3L RRM2B RYR1 SCN3A SCN4A SCN8A SCN9A SCNN1A SCO2 SECISBP2 SELENOI SELENON SFTPB SH3PXD2B SHMT2 SIN3A SKIC2 SLC10A1 SLC10A2 SLC12A6 SLC1A2 SLC25A1 SLC35A2 SLC37A4 SLC38A3 SLC39A7 SLC51B SLC5A1 SLC6A3 SLC6A5 SMARCA2 SMARCAD1 SMN1 SNX14 SOX10 SOX11 SPATA7 SPTBN4 STAG1 STAT3 STING1 STS STT3A STX3 STXBP1 SUCLG1 SUOX SUPT16H TJP2 TMEM240 TMEM38B TNFRSF11A TNFSF11 TNNT1 TOR1A TP73 TPI1 TPM1 TRAPPC4 TRMT5 TRMU TRNT1 TRPV4 TSPYL1 UFSP2 UGT1A1 UNC13D UPF3B UQCC2 USP18 USP53 VARS2 VDR VIPAS39 VPS50 WARS2 WASHC4 WDR45B ZBTB20

Diseases (307) :OMIM:614857 OMIM:619735 OMIM:201470 OMIM:201475 OMIM:102700 OMIM:615688 OMIM:615010 OMIM:614300 OMIM:608594 OMIM:235555 OMIM:266100 OMIM:214950 OMIM:182900 OMIM:620045 OMIM:617276 OMIM:125800 OMIM:207800 OMIM:615244 OMIM:612291 OMIM:308350 OMIM:207900 OMIM:615574 OMIM:215700 OMIM:619851 OMIM:265400 OMIM:618314 OMIM:619605 OMIM:619606 OMIM:601003 OMIM:618120 OMIM:300972 OMIM:300423 OMIM:619971 OMIM:602722 OMIM:615834 OMIM:304800 OMIM:613707 OMIM:614498 OMIM:300755 OMIM:619423 OMIM:620029 OMIM:618501 OMIM:616249 OMIM:618131 OMIM:606721 OMIM:236200 OMIM:614807 OMIM:613646 OMIM:619841 OMIM:270300 OMIM:619561 OMIM:602271 OMIM:616579 OMIM:254210 OMIM:616323 OMIM:601776 OMIM:617600 OMIM:619517 OMIM:611490 OMIM:619835 OMIM:616470 OMIM:131705 OMIM:619046 OMIM:619355 OMIM:612714 OMIM:237300 OMIM:615075 OMIM:202010 OMIM:203400 OMIM:610600 OMIM:613812 OMIM:617394 OMIM:610048 OMIM:615863 OMIM:251880 OMIM:608644 OMIM:612444 OMIM:614017 OMIM:619858 OMIM:614388 OMIM:616433 OMIM:620066 OMIM:615294 OMIM:620044 OMIM:617330 OMIM:616409 OMIM:618295 OMIM:208000 OMIM:278780 OMIM:617425 OMIM:613225 OMIM:614946 OMIM:301058 OMIM:619991 OMIM:618241 OMIM:620094 OMIM:612541 OMIM:619124 OMIM:231670 OMIM:277450 OMIM:148210 OMIM:614619 OMIM:606762 OMIM:220120 OMIM:615510 OMIM:615351 OMIM:615501 OMIM:619580 OMIM:619814 OMIM:617065 OMIM:617537 OMIM:619967 OMIM:609975 OMIM:609015 OMIM:619797 OMIM:619983 OMIM:616026 OMIM:619026 OMIM:614074 OMIM:203655 OMIM:261515 OMIM:607765 OMIM:612233 OMIM:617248 OMIM:608647 OMIM:233600 OMIM:615846 OMIM:612852 OMIM:300400 OMIM:614204 OMIM:301035 OMIM:273800 OMIM:614748 OMIM:116920 OMIM:619267 OMIM:616056 OMIM:619913 OMIM:241200 OMIM:610582 OMIM:601820 OMIM:613485 OMIM:121200 OMIM:618109 OMIM:619662 OMIM:131760 OMIM:619555 OMIM:609352 OMIM:236800 OMIM:245660 OMIM:609049 OMIM:619483 OMIM:223000 OMIM:617668 OMIM:277380 OMIM:618840 OMIM:619451 OMIM:615595 OMIM:214500 OMIM:616680 OMIM:615547 OMIM:615486 OMIM:618695 OMIM:617339 OMIM:619527 OMIM:251110 OMIM:251000 OMIM:252160 OMIM:609180 OMIM:614582 OMIM:617664 OMIM:115197 OMIM:619424 OMIM:619482 OMIM:251850 OMIM:619717 OMIM:618236 OMIM:618247 OMIM:618240 OMIM:618222 OMIM:610370 OMIM:602535 OMIM:614753 OMIM:605711 OMIM:618278 OMIM:610978 OMIM:616050 OMIM:611762 OMIM:607115 OMIM:619155 OMIM:607625 OMIM:300200 OMIM:617049 OMIM:177735 OMIM:117550 OMIM:620001 OMIM:619844 OMIM:251290 OMIM:259720 OMIM:311250 OMIM:613986 OMIM:245050 OMIM:218700 OMIM:619880 OMIM:214100 OMIM:209880 OMIM:617599 OMIM:618590 OMIM:263200 OMIM:617290 OMIM:619955 OMIM:212065 OMIM:618048 OMIM:618189 OMIM:619383 OMIM:612304 OMIM:610992 OMIM:619175 OMIM:616158 OMIM:269400 OMIM:617751 OMIM:615895 OMIM:619690 OMIM:618108 OMIM:607017 OMIM:618826 OMIM:619371 OMIM:612075 OMIM:117000 OMIM:255320 OMIM:617935 OMIM:617938 OMIM:608390 OMIM:614306 OMIM:614558 OMIM:167400 OMIM:264350 OMIM:604377 OMIM:609698 OMIM:618768 OMIM:602771 OMIM:265120 OMIM:249420 OMIM:619121 OMIM:613406 OMIM:614602 OMIM:619256 OMIM:613291 OMIM:218000 OMIM:617105 OMIM:618197 OMIM:300896 OMIM:232240 OMIM:619881 OMIM:619693 OMIM:619481 OMIM:606824 OMIM:613135 OMIM:614618 OMIM:601358 OMIM:129200 OMIM:253300 OMIM:616354 OMIM:609136 OMIM:615866 OMIM:604232 OMIM:617519 OMIM:617635 OMIM:615952 OMIM:615934 OMIM:308100 OMIM:619714 OMIM:619446 OMIM:612164 OMIM:245400 OMIM:272300 OMIM:619480 OMIM:615878 OMIM:607454 OMIM:615066 OMIM:612301 OMIM:259710 OMIM:605355 OMIM:128100 OMIM:619466 OMIM:615512 OMIM:611878 OMIM:618741 OMIM:616539 OMIM:613070 OMIM:616084 OMIM:156530 OMIM:608800 OMIM:620028 OMIM:237900 OMIM:608898 OMIM:300676 OMIM:615824 OMIM:617397 OMIM:619658 OMIM:615917 OMIM:277440 OMIM:613404 OMIM:619685 OMIM:619738 OMIM:615817 OMIM:617977 OMIM:259050

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

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