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
..Childhood onset (HP:0011463)

Term ID:

11463

Name:

Childhood onset

Synonym:

Symptoms begin in childhood

Definition:

Onset of disease at the age of between 1 and 5 years.

Comments:

Reference:

HP:0011463

Genes and Diseases:

Child Nodes:

Sister Nodes:

Adult onset (HP:0003581)

Antenatal onset (HP:0030674)

Congenital onset (HP:0003577)

Infantile onset (HP:0003593)

Juvenile onset (HP:0003621)

Neonatal onset (HP:0003623)

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:0011463	HP:0011463	Childhood onset	0	AAAS CL E G H	8086	231550	Glucocorticoid deficiency with achalasia	231550	C0271742	OMIM	1	217	13666	605378
HP:0011463	HP:0011463	Childhood onset	0	ADGRV1 CL E G H	84059	604352	Febrile seizures, familial, 4	604352	C1858493	OMIM	1	4561	17416	602851
HP:0011463	HP:0011463	Childhood onset	0	ALAS2 CL E G H	212	300752	Protoporphyria, erythropoietic, X-linked	300752	C2677889	OMIM	1	342	397	301300
HP:0011463	HP:0011463	Childhood onset	0	ALS2 CL E G H	57679	606353	Juvenile primary lateral sclerosis	606353	C1853396	OMIM	1	947	443	606352
HP:0011463	HP:0011463	Childhood onset	0	AMN CL E G H	81693	261100	Megaloblastic anemia due to inborn errors of metabolism	261100	C1306856	OMIM	1	298	14604	605799
HP:0011463	HP:0011463	Childhood onset	0	CHRNA4 CL E G H	1137	600513	Epilepsy, nocturnal frontal lobe, type 1	600513	C1838049	OMIM	1	1017	1958	118504
HP:0011463	HP:0011463	Childhood onset	0	CLCN1 CL E G H	1180	255700	Congenital myotonia, autosomal recessive form	255700	C0751360	OMIM	1	1064	2019	118425
HP:0011463	HP:0011463	Childhood onset	0	COL9A1 CL E G H	1297	614135	Multiple epiphyseal dysplasia 6	614135	C2675767	OMIM	1	1130	2217	120210
HP:0011463	HP:0011463	Childhood onset	0	COL9A2 CL E G H	1298	600204	Multiple epiphyseal dysplasia 2	600204	C1838429	OMIM	1	832	2218	120260
HP:0011463	HP:0011463	Childhood onset	0	CUBN CL E G H	8029	261100	Megaloblastic anemia due to inborn errors of metabolism	261100	C1306856	OMIM	1	1581	2548	602997
HP:0011463	HP:0011463	Childhood onset	0	DIAPH1 CL E G H	1729	124900	Deafness, autosomal dominant 1	124900	C1852282	OMIM	1	1221	2876	602121
HP:0011463	HP:0011463	Childhood onset	0	DMD CL E G H	1756	310200	Duchenne muscular dystrophy	310200	C0013264	OMIM	1	8184	2928	300377
HP:0011463	HP:0011463	Childhood onset	0	DYNC1H1 CL E G H	1778	158600	Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant	158600	C1834690	OMIM	1	3787	2961	600112
HP:0011463	HP:0011463	Childhood onset	0	EMD CL E G H	2010	310300	Emery-Dreifuss muscular dystrophy 1, X-linked	310300	C0751337	OMIM	1	695	3331	300384
HP:0011463	HP:0011463	Childhood onset	0	F2 CL E G H	2147	188050	Venous thrombosis	188050	C0042487	OMIM	1	165	3535	176930
HP:0011463	HP:0011463	Childhood onset	0	FECH CL E G H	2235	177000	Erythropoietic protoporphyria	177000	C0162568	OMIM	1	356	3647	612386
HP:0011463	HP:0011463	Childhood onset	0	FLVCR1 CL E G H	28982	609033	Posterior column ataxia with retinitis pigmentosa	609033	C1836916	OMIM	1	529	24682	609144
HP:0011463	HP:0011463	Childhood onset	0	FRG1 CL E G H	2483	158900	Facioscapulohumeral muscular dystrophy	158900	C0238288	OMIM	1	136	3954	601278
HP:0011463	HP:0011463	Childhood onset	0	GCH1 CL E G H	2643	128230	Dystonia 5, Dopa-responsive type	128230	C1851920	OMIM	1	428	4193	600225
HP:0011463	HP:0011463	Childhood onset	0	GDAP1 CL E G H	54332	608340	Charcot-Marie-Tooth disease, recessive intermediate A	608340	C1842197	OMIM	1	537	15968	606598
HP:0011463	HP:0011463	Childhood onset	0	GUCY2D CL E G H	3000	601777	Cone-rod dystrophy 6	601777	C1866293	OMIM	1	1048	4689	600179
HP:0011463	HP:0011463	Childhood onset	0	LIMS2 CL E G H	55679	616827	Muscular dystrophy, limb-girdle, type 2W	616827	C4225192	OMIM	1	305	16084	607908
HP:0011463	HP:0011463	Childhood onset	0	MYH7 CL E G H	4625	160500	Myopathy, distal, 1	160500	CN074249	OMIM	1	4106	7577	160760
HP:0011463	HP:0011463	Childhood onset	0	NLGN4X CL E G H	57502	300495	Autism, susceptibility to, X-linked 2	300495	C1845539	OMIM	1	444	14287	300427
HP:0011463	HP:0011463	Childhood onset	0	OCRL CL E G H	4952	300555	Dent disease 2	300555	C1845167	OMIM	1	643	8108	300535
HP:0011463	HP:0011463	Childhood onset	0	PLA2G6 CL E G H	8398	610217	Neurodegeneration with brain iron accumulation 2b	610217	C1857747	OMIM	1	775	9039	603604
HP:0011463	HP:0011463	Childhood onset	0	PLCE1 CL E G H	51196	610725	Nephrotic syndrome, type 3	610725	C1853124	OMIM	1	528	17175	608414
HP:0011463	HP:0011463	Childhood onset	0	PLEKHG5 CL E G H	57449	611067	Distal spinal muscular atrophy, autosomal recessive 4	611067	C1970211	OMIM	1	1080	29105	611101
HP:0011463	HP:0011463	Childhood onset	0	PMP22 CL E G H	5376	118300	Charcot-Marie-Tooth disease and deafness	118300	C1861669	OMIM	1	492	9118	601097
HP:0011463	HP:0011463	Childhood onset	0	PNKD CL E G H	25953	118800	Paroxysmal nonkinesigenic dyskinesia 1	118800		OMIM	1	521	9153	609023
HP:0011463	HP:0011463	Childhood onset	0	PRNP CL E G H	5621	600072	Fatal familial insomnia	600072	C0206042	OMIM	1	191	9449	176640
HP:0011463	HP:0011463	Childhood onset	0	PRPS1 CL E G H	5631	311070	Charcot-Marie-Tooth disease, X-linked recessive, type 5	311070	C1839566	OMIM	1	415	9462	311850
HP:0011463	HP:0011463	Childhood onset	0	RPS29 CL E G H	6235	615909	Diamond-Blackfan anemia 13	615909	C4014641	OMIM	1	50	10419	603633
HP:0011463	HP:0011463	Childhood onset	0	SCN1A CL E G H	6323	604403	Generalized epilepsy with febrile seizures plus, type 2	604403	C1858673	OMIM	1	4030	10585	182389
HP:0011463	HP:0011463	Childhood onset	0	SH3BP2 CL E G H	6452	118400	Fibrous dysplasia of jaw	118400	C0008029	OMIM	1	760	10825	602104
HP:0011463	HP:0011463	Childhood onset	0	SMPX CL E G H	23676	300066	Deafness, X-linked 4	300066	C1848204	OMIM	1	217	11122	300226
HP:0011463	HP:0011463	Childhood onset	0	SNRPN CL E G H	6638	209850	Autistic disorder of childhood onset	209850	C0004352	OMIM	1	396	11164	182279
HP:0011463	HP:0011463	Childhood onset	0	SPART CL E G H	23111	275900	Troyer syndrome	275900	C0393559	OMIM	1	353	18514	607111
HP:0011463	HP:0011463	Childhood onset	0	SPG11 CL E G H	80208	604360	Spastic paraplegia 11, autosomal recessive	604360	C1858479	OMIM	1	2625	11226	610844
HP:0011463	HP:0011463	Childhood onset	0	SYNE1 CL E G H	23345	612998	Emery-Dreifuss muscular dystrophy 4, autosomal dominant	612998	C2751807	OMIM	1	5789	17089	608441
HP:0011463	HP:0011463	Childhood onset	0	SYNE2 CL E G H	23224	612999	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	612999	C2751805	OMIM	1	3314	17084	608442
HP:0011463	HP:0011463	Childhood onset	0	TACSTD2 CL E G H	4070	204870	Lattice corneal dystrophy Type III	204870	C0339273	OMIM	1	81	11530	137290
HP:0011463	HP:0011463	Childhood onset	0	TIMM8A CL E G H	1678	304700	Mohr-Tranebjaerg syndrome	304700	C0796074	OMIM	1	227	11817	300356
HP:0011463	HP:0011463	Childhood onset	0	TMPRSS3 CL E G H	64699	601072	Deafness, autosomal recessive 8	601072	C1832827	OMIM	1	425	11877	605511
HP:0011463	HP:0011463	Childhood onset	0	TPM2 CL E G H	7169	609285	Nemaline myopathy 4	609285	C1836447	OMIM	1	341	12011	190990
HP:0011463	HP:0011463	Childhood onset	0	TTN CL E G H	7273	608807	Limb-girdle muscular dystrophy, type 2J	608807	C1837342	OMIM	1	27503	12403	188840
HP:0011463	HP:0011463	Childhood onset	0	UFSP2 CL E G H	55325	142669	Beukes hip dysplasia	142669	C1840572	OMIM	1	164	25640	611482
HP:0011463	HP:0011463	Childhood onset	0	WT1 CL E G H	7490	256370	Diffuse mesangial sclerosis	256370	C0268747	OMIM	1	1371	12796	607102
HP:0011463	HP:0011463	Childhood onset	0	XPC CL E G H	7508	278720	Xeroderma pigmentosum, group C	278720	C2752147	OMIM	1	788	12816	613208
HPO disease - gene - phenotype less frequent non-typical associations:

Genes (49) :AAAS ADGRV1 ALAS2 ALS2 AMN CHRNA4 CLCN1 COL9A1 COL9A2 CUBN DIAPH1 DMD DYNC1H1 EMD F2 FECH FLVCR1 FRG1 GCH1 GDAP1 GUCY2D LIMS2 MYH7 NLGN4X OCRL PLA2G6 PLCE1 PLEKHG5 PMP22 PNKD PRNP PRPS1 RPS29 SCN1A SH3BP2 SMPX SNRPN SPART SPG11 SYNE1 SYNE2 TACSTD2 TIMM8A TMPRSS3 TPM2 TTN UFSP2 WT1 XPC

Diseases (48) :231550 604352 300752 606353 261100 600513 255700 614135 600204 124900 310200 158600 310300 188050 177000 609033 158900 128230 608340 601777 616827 160500 300495 300555 610217 610725 611067 118300 118800 600072 311070 615909 604403 118400 300066 209850 275900 604360 612998 612999 204870 304700 601072 609285 608807 142669 256370 278720

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

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