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	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0003623	HP:0003623	Neonatal onset	0	ACADS CL E G H	35	201470	Deficiency of butyryl-CoA dehydrogenase	201470	C0342783	OMIM	1	406	90	606885
HP:0003623	HP:0003623	Neonatal onset	0	AKR1D1 CL E G H	6718	235555	Bile acid synthesis defect, congenital, 2	235555	C1856127	OMIM	1	225	388	604741
HP:0003623	HP:0003623	Neonatal onset	0	AMACR CL E G H	23600	214950	Bile acid synthesis defect, congenital, 4	214950	C1858328	OMIM	1	392	451	604489
HP:0003623	HP:0003623	Neonatal onset	0	AQP2 CL E G H	359	125800	Nephrogenic diabetes insipidus, autosomal	125800	C1563706	OMIM	1	329	634	107777
HP:0003623	HP:0003623	Neonatal onset	0	ARHGDIA CL E G H	396	615244	Nephrotic syndrome, type 8	615244	C3808953	OMIM	1	65	678	601925
HP:0003623	HP:0003623	Neonatal onset	0	ASL CL E G H	435	207900	Argininosuccinate lyase deficiency	207900	C0268547	OMIM	1	674	746	608310
HP:0003623	HP:0003623	Neonatal onset	0	ASS1 CL E G H	445	215700	Citrullinemia type I	215700	C0175683	OMIM	1	686	758	603470
HP:0003623	HP:0003623	Neonatal onset	0	AVPR2 CL E G H	554	304800	Nephrogenic diabetes insipidus, X-linked	304800	C1563705	OMIM	1	444	897	300538
HP:0003623	HP:0003623	Neonatal onset	0	CYP11B1 CL E G H	1584	202010	Deficiency of steroid 11-beta-monooxygenase	202010	C0268292	OMIM	1	703	2591	610613
HP:0003623	HP:0003623	Neonatal onset	0	CYP11B2 CL E G H	1585	203400	Corticosterone methyloxidase type 1 deficiency	203400	CN074214	OMIM	1	538	2592	124080
HP:0003623	HP:0003623	Neonatal onset	0	CYP11B2 CL E G H	1585	610600	Corticosterone methyloxidase type 2 deficiency	610600	C3463917	OMIM	1	538	2592	124080
HP:0003623	HP:0003623	Neonatal onset	0	CYP7B1 CL E G H	9420	613812	Bile acid synthesis defect, congenital, 3	613812	C3151147	OMIM	1	415	2652	603711
HP:0003623	HP:0003623	Neonatal onset	0	GDAP1 CL E G H	54332	607706	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive	607706	C1843183	OMIM	1	537	15968	606598
HP:0003623	HP:0003623	Neonatal onset	0	HSD3B7 CL E G H	80270	607765	Bile acid synthesis defect, congenital, 1	607765	C1843116	OMIM	1	139	18324	607764
HP:0003623	HP:0003623	Neonatal onset	0	HSPD1 CL E G H	3329	612233	Leukodystrophy, hypomyelinating, 4	612233	C2677109	OMIM	1	278	5261	118190
HP:0003623	HP:0003623	Neonatal onset	0	KCNQ2 CL E G H	3785	121200	Benign familial neonatal seizures 1	121200	C1852587	OMIM	1	1962	6296	602235
HP:0003623	HP:0003623	Neonatal onset	0	KRT14 CL E G H	3861	131760	Epidermolysis bullosa herpetiformis, Dowling-Meara	131760	C0079295	OMIM	1	200	6416	148066
HP:0003623	HP:0003623	Neonatal onset	0	KRT5 CL E G H	3852	131760	Epidermolysis bullosa herpetiformis, Dowling-Meara	131760	C0079295	OMIM	1	303	6442	148040
HP:0003623	HP:0003623	Neonatal onset	0	LAMB2 CL E G H	3913	609049	Pierson syndrome	609049	C1836876	OMIM	1	915	6487	150325
HP:0003623	HP:0003623	Neonatal onset	0	MMAB CL E G H	326625	251110	Methylmalonic aciduria cblB type	251110	C1855102	OMIM	1	461	19331	607568
HP:0003623	HP:0003623	Neonatal onset	0	NDUFAF4 CL E G H	29078	618237	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15	618237		OMIM	1	136	21034	611776
HP:0003623	HP:0003623	Neonatal onset	0	NEUROG3 CL E G H	50674	610370	Diarrhea 4, malabsorptive, congenital	610370	C1835888	OMIM	1	121	13806	604882
HP:0003623	HP:0003623	Neonatal onset	0	PIGP CL E G H	51227	617599	Early infantile epileptic encephalopathy 55	617599	C4539843	OMIM	1	188	3046	605938
HP:0003623	HP:0003623	Neonatal onset	0	RYR1 CL E G H	6261	255320	Minicore myopathy	255320	C1850674	OMIM	1	6164	10483	180901
HP:0003623	HP:0003623	Neonatal onset	0	SCN9A CL E G H	6335	167400	Paroxysmal extreme pain disorder	167400	C1833661	OMIM	1	2254	10597	603415
HP:0003623	HP:0003623	Neonatal onset	0	SLC1A2 CL E G H	6506	617105	Epileptic encephalopathy, early infantile, 41	617105	C4310717	OMIM	1	359	10940	600300
HP:0003623	HP:0003623	Neonatal onset	0	STXBP1 CL E G H	6812	612164	Early infantile epileptic encephalopathy 4	612164	C2677326	OMIM	1	1017	11444	602926
HP:0003623	HP:0003623	Neonatal onset	0	TMEM173 CL E G H	340061	615934	Sting-associated vasculopathy, infantile-onset	615934	C4014722	OMIM	1		27962	612374
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003623	HP:0003623	Neonatal onset	0	KCNJ11 CL E G H	3767	610582	Transient neonatal diabetes mellitus 3	610582	C1864623	OMIM	0	435	6257	600937

Genes (28) :ACADS AKR1D1 AMACR AQP2 ARHGDIA ASL ASS1 AVPR2 CYP11B1 CYP11B2 CYP7B1 GDAP1 HSD3B7 HSPD1 KCNJ11 KCNQ2 KRT14 KRT5 LAMB2 MMAB NDUFAF4 NEUROG3 PIGP RYR1 SCN9A SLC1A2 STXBP1 TMEM173

Diseases (28) :201470 235555 214950 125800 615244 207900 215700 304800 202010 203400 610600 613812 607706 607765 612233 610582 121200 131760 609049 251110 618237 610370 617599 255320 167400 617105 612164 615934

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.

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