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
..Juvenile onset (HP:0003621)

Term ID:

3621

Name:

Juvenile onset

Synonym:

Signs and symptoms begin before 15 years of age

Definition:

Onset of signs or symptoms of disease between the age of 5 and 15 years.

Comments:

Reference:

HP:0003621

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)

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:0003621	HP:0003621	Juvenile onset	0	ABCB7 CL E G H	22	301310	Anemia sideroblastic and spinocerebellar ataxia	301310	C1845028	OMIM	1	299	48	300135
HP:0003621	HP:0003621	Juvenile onset	0	ACP5 CL E G H	54	607944	Spondyloenchondrodysplasia with immune dysregulation	607944	C1842763	OMIM	1	295	124	171640
HP:0003621	HP:0003621	Juvenile onset	0	ADCY5 CL E G H	111	606703	Dyskinesia, familial, with facial myokymia	606703	C1847627	OMIM	1	653	236	600293
HP:0003621	HP:0003621	Juvenile onset	0	AIRE CL E G H	326	240300	Polyglandular autoimmune syndrome, type 1	240300	C0085859	OMIM	1	1035	360	607358
HP:0003621	HP:0003621	Juvenile onset	0	ALS2 CL E G H	57679	606353	Juvenile primary lateral sclerosis	606353	C1853396	OMIM	1	947	443	606352
HP:0003621	HP:0003621	Juvenile onset	0	APTX CL E G H	54840	208920	Ataxia-oculomotor apraxia type 1	208920	C1859598	OMIM	1	331	15984	606350
HP:0003621	HP:0003621	Juvenile onset	0	ASAH1 CL E G H	427	159950	Jankovic Rivera syndrome	159950	C1834569	OMIM	1	913	735	613468
HP:0003621	HP:0003621	Juvenile onset	0	ATP2B3 CL E G H	492	302500	Spinocerebellar ataxia, X-linked 1	302500	C0796205	OMIM	1	352	816	300014
HP:0003621	HP:0003621	Juvenile onset	0	ATP7A CL E G H	538	300489	Distal spinal muscular atrophy, X-linked 3	300489	C1845359	OMIM	1	1751	869	300011
HP:0003621	HP:0003621	Juvenile onset	0	CASP10 CL E G H	843	603909	Autoimmune lymphoproliferative syndrome, type 2A	603909	C1858968	OMIM	1	463	1500	601762
HP:0003621	HP:0003621	Juvenile onset	0	CBLIF CL E G H	2694	261000	Intrinsic factor deficiency	261000	C1394891	OMIM	1	128	4268	609342
HP:0003621	HP:0003621	Juvenile onset	0	CC2D1A CL E G H	54862	608443	Mental retardation, autosomal recessive 3	608443	C1838023	OMIM	1	263	30237	610055
HP:0003621	HP:0003621	Juvenile onset	0	CCT5 CL E G H	22948	256840	Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive	256840	C1850395	OMIM	1	361	1618	610150
HP:0003621	HP:0003621	Juvenile onset	0	CFH CL E G H	3075	609814	Factor H deficiency	609814	C0398777	OMIM	1	680	4883	134370
HP:0003621	HP:0003621	Juvenile onset	0	CFI CL E G H	3426	610984	Afibrinogenemia	610984	C0001733	OMIM	1	405	5394	217030
HP:0003621	HP:0003621	Juvenile onset	0	CHST6 CL E G H	4166	217800	Macular corneal dystrophy Type I	217800	C1636149	OMIM	1	329	6938	605294
HP:0003621	HP:0003621	Juvenile onset	0	CLCN7 CL E G H	1186	166600	Osteopetrosis autosomal dominant type 2	166600	C3179239	OMIM	1	1009	2025	602727
HP:0003621	HP:0003621	Juvenile onset	0	CLDN16 CL E G H	10686	248250	Primary hypomagnesemia	248250	C0268448	OMIM	1	302	2037	603959
HP:0003621	HP:0003621	Juvenile onset	0	COL6A2 CL E G H	1292	255600	Myosclerosis, autosomal recessive	255600	C1850671	OMIM	1	1928	2212	120240
HP:0003621	HP:0003621	Juvenile onset	0	CTNS CL E G H	1497	219900	Juvenile nephropathic cystinosis	219900	C0268626	OMIM	1	778	2518	606272
HP:0003621	HP:0003621	Juvenile onset	0	CYBA CL E G H	1535	233690	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	233690	C1856255	OMIM	1	454	2577	608508
HP:0003621	HP:0003621	Juvenile onset	0	CYBB CL E G H	1536	306400	Chronic granulomatous disease, X-linked	306400	C1844376	OMIM	1	734	2578	300481
HP:0003621	HP:0003621	Juvenile onset	0	DDHD1 CL E G H	80821	609340	Spastic paraplegia 28, autosomal recessive	609340	C1836295	OMIM	1	439	19714	614603
HP:0003621	HP:0003621	Juvenile onset	0	DNM2 CL E G H	1785	606482	Charcot-Marie-Tooth disease, dominant intermediate B	606482	C1847902	OMIM	1	1088	2974	602378
HP:0003621	HP:0003621	Juvenile onset	0	DOK7 CL E G H	285489	254300	Myasthenia, limb-girdle, familial	254300	C1850792	OMIM	1	1000	26594	610285
HP:0003621	HP:0003621	Juvenile onset	0	EGR2 CL E G H	1959	607678	Charcot-Marie-Tooth disease, demyelinating, type 1d	607678	C1843247	OMIM	1	373	3239	129010
HP:0003621	HP:0003621	Juvenile onset	0	EIF2B1 CL E G H	1967	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	192	3257	606686
HP:0003621	HP:0003621	Juvenile onset	0	EIF2B2 CL E G H	8892	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	190	3258	606454
HP:0003621	HP:0003621	Juvenile onset	0	EIF2B3 CL E G H	8891	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	181	3259	606273
HP:0003621	HP:0003621	Juvenile onset	0	EIF2B4 CL E G H	8890	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	233	3260	606687
HP:0003621	HP:0003621	Juvenile onset	0	EIF2B5 CL E G H	8893	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	579	3261	603945
HP:0003621	HP:0003621	Juvenile onset	0	EMD CL E G H	2010	310300	Emery-Dreifuss muscular dystrophy 1, X-linked	310300	C0751337	OMIM	1	695	3331	300384
HP:0003621	HP:0003621	Juvenile onset	0	EXT1 CL E G H	2131	133700	Multiple congenital exostosis	133700	C0015306	OMIM	1	857	3512	608177
HP:0003621	HP:0003621	Juvenile onset	0	EXT2 CL E G H	2132	133701	Multiple exostoses type 2	133701	C1851413	OMIM	1	668	3513	608210
HP:0003621	HP:0003621	Juvenile onset	0	FXN CL E G H	2395	229300	Friedreich ataxia 1	229300	C1856689	OMIM	1	158	3951	606829
HP:0003621	HP:0003621	Juvenile onset	0	GALNS CL E G H	2588	253000	Mucopolysaccharidosis, MPS-IV-A	253000	C0086651	OMIM	1	1032	4122	612222
HP:0003621	HP:0003621	Juvenile onset	0	GALNT3 CL E G H	2591	211900	Tumoral calcinosis, familial, hyperphosphatemic	211900	C1876187	OMIM	1	307	4125	601756
HP:0003621	HP:0003621	Juvenile onset	0	GAN CL E G H	8139	256850	Giant axonal neuropathy	256850	C1850386	OMIM	1	777	4137	605379
HP:0003621	HP:0003621	Juvenile onset	0	GFPT1 CL E G H	2673	610542	Congenital myasthenic syndrome 12	610542	C3552335	OMIM	1	524	4241	138292
HP:0003621	HP:0003621	Juvenile onset	0	GLA CL E G H	2717	301500	Fabry disease	301500	C0002986	OMIM	1	1099	4296	300644
HP:0003621	HP:0003621	Juvenile onset	0	GLB1 CL E G H	2720	253010	Mucopolysaccharidosis, MPS-IV-B	253010	C0086652	OMIM	1	937	4298	611458
HP:0003621	HP:0003621	Juvenile onset	0	GNAS CL E G H	2778	166350	Progressive osseous heteroplasia	166350	C0334041	OMIM	1	644	4392	139320
HP:0003621	HP:0003621	Juvenile onset	0	HPCA CL E G H	3208	224500	Dystonia 2, torsion, autosomal recessive	224500	C1857093	OMIM	1	50	5144	142622
HP:0003621	HP:0003621	Juvenile onset	0	ISCU CL E G H	23479	255125	Myopathy with lactic acidosis, hereditary	255125	C1850718	OMIM	1	160	29882	611911
HP:0003621	HP:0003621	Juvenile onset	0	ITK CL E G H	3702	613011	Lymphoproliferative syndrome 1	613011	C3552634	OMIM	1	461	6171	186973
HP:0003621	HP:0003621	Juvenile onset	0	ITPR1 CL E G H	3708	606658	Spinocerebellar ataxia 15	606658	C1847725	OMIM	1	1563	6180	147265
HP:0003621	HP:0003621	Juvenile onset	0	KCNA1 CL E G H	3736	160120	Episodic ataxia type 1	160120	C1719788	OMIM	1	575	6218	176260
HP:0003621	HP:0003621	Juvenile onset	0	LDHA CL E G H	3939	612933	Glycogen storage disease XI	612933	C2752022	OMIM	1	206	6535	150000
HP:0003621	HP:0003621	Juvenile onset	0	LITAF CL E G H	9516	601098	Charcot-Marie-Tooth disease, type 1C	601098	C0270913	OMIM	1	290	16841	603795
HP:0003621	HP:0003621	Juvenile onset	0	LMNA CL E G H	4000	248370	Mandibuloacral dysostosis	248370	C0432291	OMIM	1	1814	6636	150330
HP:0003621	HP:0003621	Juvenile onset	0	MEFV CL E G H	4210	134610	Familial mediterranean fever, autosomal dominant	134610	C1851347	OMIM	1	1083	6998	608107
HP:0003621	HP:0003621	Juvenile onset	0	MFSD8 CL E G H	256471	610951	Ceroid lipofuscinosis neuronal 7	610951	C1838571	OMIM	1	869	28486	611124
HP:0003621	HP:0003621	Juvenile onset	0	MMP2 CL E G H	4313	259600	Multicentric osteolysis, nodulosis and arthropathy	259600	C1850155	OMIM	1	342	7166	120360
HP:0003621	HP:0003621	Juvenile onset	0	MPZ CL E G H	4359	118200	Charcot-Marie-Tooth disease, demyelinating, type 1b	118200	C0270912	OMIM	1	607	7225	159440
HP:0003621	HP:0003621	Juvenile onset	0	MPZ CL E G H	4359	180800	Roussy-Lévy syndrome	180800	C0205713	OMIM	1	607	7225	159440
HP:0003621	HP:0003621	Juvenile onset	0	MYH9 CL E G H	4627	603622	Deafness, autosomal dominant nonsyndromic sensorineural 17	603622	C1863659	OMIM	1	1160	7579	160775
HP:0003621	HP:0003621	Juvenile onset	0	NAGLU CL E G H	4669	252920	Mucopolysaccharidosis, MPS-III-B	252920	C0086648	OMIM	1	1088	7632	609701
HP:0003621	HP:0003621	Juvenile onset	0	NCF1 CL E G H	653361	233700	Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 1	233700	C1856251	OMIM	1	106	7660	608512
HP:0003621	HP:0003621	Juvenile onset	0	NCF2 CL E G H	4688	233710	Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2	233710	C1856245	OMIM	1	448	7661	608515
HP:0003621	HP:0003621	Juvenile onset	0	NDRG1 CL E G H	10397	601455	Charcot-Marie-Tooth disease, type 4D	601455	C1832334	OMIM	1	734	7679	605262
HP:0003621	HP:0003621	Juvenile onset	0	NEFL CL E G H	4747	607734	Charcot-Marie-Tooth disease, demyelinating, type 1f	607734	C1843164	OMIM	1	614	7739	162280
HP:0003621	HP:0003621	Juvenile onset	0	NKX2-1 CL E G H	7080	118700	Benign hereditary chorea	118700	C0393584	OMIM	1	317	11825	600635
HP:0003621	HP:0003621	Juvenile onset	0	NLRP3 CL E G H	114548	148200	Keratitis fugax hereditaria	148200	C1835697	OMIM	1	917	16400	606416
HP:0003621	HP:0003621	Juvenile onset	0	NPHS2 CL E G H	7827	600995	Nephrotic syndrome, idiopathic, steroid-resistant	600995	CN034406	OMIM	1	442	13394	604766
HP:0003621	HP:0003621	Juvenile onset	0	PANK2 CL E G H	80025	607236	Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration	607236	C1846582	OMIM	1	499	15894	606157
HP:0003621	HP:0003621	Juvenile onset	0	PLP1 CL E G H	5354	312920	Spastic paraplegia 2	312920	C1839264	OMIM	1	451	9086	300401
HP:0003621	HP:0003621	Juvenile onset	0	PMP22 CL E G H	5376	118300	Charcot-Marie-Tooth disease and deafness	118300	C1861669	OMIM	1	492	9118	601097
HP:0003621	HP:0003621	Juvenile onset	0	PMP22 CL E G H	5376	118220	Charcot-Marie-Tooth disease, type IA	118220	C0270911	OMIM	1	492	9118	601097
HP:0003621	HP:0003621	Juvenile onset	0	PMP22 CL E G H	5376	180800	Roussy-Lévy syndrome	180800	C0205713	OMIM	1	492	9118	601097
HP:0003621	HP:0003621	Juvenile onset	0	PNPLA6 CL E G H	10908	215470	Boucher Neuhauser syndrome	215470	C1859093	OMIM	1	1216	16268	603197
HP:0003621	HP:0003621	Juvenile onset	0	PYGM CL E G H	5837	232600	Glycogen storage disease, type V	232600	C0017924	OMIM	1	1055	9726	608455
HP:0003621	HP:0003621	Juvenile onset	0	RETREG1 CL E G H	54463	613115	Hereditary sensory and autonomic neuropathy type IIB	613115	C2751092	OMIM	1	523	25964	613114
HP:0003621	HP:0003621	Juvenile onset	0	SBF2 CL E G H	81846	604563	Charcot-Marie-Tooth disease, type 4B2	604563	C1858278	OMIM	1	1456	2135	607697
HP:0003621	HP:0003621	Juvenile onset	0	SCN9A CL E G H	6335	133020	Primary erythromelalgia	133020	C0014805	OMIM	1	2254	10597	603415
HP:0003621	HP:0003621	Juvenile onset	0	SGCA CL E G H	6442	608099	Limb-girdle muscular dystrophy, type 2D	608099	C2936332	OMIM	1	628	10805	600119
HP:0003621	HP:0003621	Juvenile onset	0	SGCB CL E G H	6443	604286	Limb-girdle muscular dystrophy, type 2E	604286	C1858593	OMIM	1	500	10806	600900
HP:0003621	HP:0003621	Juvenile onset	0	SGCE CL E G H	8910	159900	Myoclonic dystonia	159900	C1834570	OMIM	1	568	10808	604149
HP:0003621	HP:0003621	Juvenile onset	0	SLC12A3 CL E G H	6559	263800	Familial hypokalemia-hypomagnesemia	263800	C0268450	OMIM	1	1283	10912	600968
HP:0003621	HP:0003621	Juvenile onset	0	SLC19A3 CL E G H	80704	607483	Basal ganglia disease, biotin-responsive	607483	C1843807	OMIM	1	563	16266	606152
HP:0003621	HP:0003621	Juvenile onset	0	SLC52A3 CL E G H	113278	211530	Brown-Vialetto-Van Laere syndrome 1	211530	CN029849	OMIM	1	464	16187	613350
HP:0003621	HP:0003621	Juvenile onset	0	SMPD1 CL E G H	6609	607616	Niemann-Pick disease, type B	607616	C0268243	OMIM	1	864	11120	607608
HP:0003621	HP:0003621	Juvenile onset	0	SPG11 CL E G H	80208	602099	Amyotrophic lateral sclerosis type 5	602099	C1865864	OMIM	1	2625	11226	610844
HP:0003621	HP:0003621	Juvenile onset	0	TGFB1 CL E G H	7040	131300	Diaphyseal dysplasia	131300	C0011989	OMIM	1	286	11766	190180
HP:0003621	HP:0003621	Juvenile onset	0	TNFRSF4 CL E G H	7293	615593	Immunodeficiency 16	615593	C3810053	OMIM	1	396	11918	600315
HP:0003621	HP:0003621	Juvenile onset	0	TNNI3 CL E G H	7137	611880	Dilated cardiomyopathy 2A	611880	C2678474	OMIM	1	655	11947	191044
HP:0003621	HP:0003621	Juvenile onset	0	TNPO3 CL E G H	23534	608423	Limb-girdle muscular dystrophy, type 1F	608423	C1842062	OMIM	1	575	17103	610032
HP:0003621	HP:0003621	Juvenile onset	0	TPM3 CL E G H	7170	609284	Nemaline myopathy 1	609284	C1836448	OMIM	1	343	12012	191030
HP:0003621	HP:0003621	Juvenile onset	0	TPP1 CL E G H	1200	609270	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia	609270	C1836474	OMIM	1	1023	2073	607998
HP:0003621	HP:0003621	Juvenile onset	0	TREX1 CL E G H	11277	610448	Chilblain lupus 1	610448	C3277619	OMIM	1	418	12269	606609
HP:0003621	HP:0003621	Juvenile onset	0	TRPV4 CL E G H	59341	606835	Digital arthropathy-brachydactyly, familial	606835	C1847406	OMIM	1	1018	18083	605427
HP:0003621	HP:0003621	Juvenile onset	0	UMOD CL E G H	7369	162000	Familial juvenile gout	162000	C0268113	OMIM	1	357	12559	191845
HPO disease - gene - phenotype less frequent non-typical associations:

Genes (88) :ABCB7 ACP5 ADCY5 AIRE ALS2 APTX ASAH1 ATP2B3 ATP7A CASP10 CBLIF CC2D1A CCT5 CFH CFI CHST6 CLCN7 CLDN16 COL6A2 CTNS CYBA CYBB DDHD1 DNM2 DOK7 EGR2 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5 EMD EXT1 EXT2 FXN GALNS GALNT3 GAN GFPT1 GLA GLB1 GNAS HPCA ISCU ITK ITPR1 KCNA1 LDHA LITAF LMNA MEFV MFSD8 MMP2 MPZ MYH9 NAGLU NCF1 NCF2 NDRG1 NEFL NKX2-1 NLRP3 NPHS2 PANK2 PLP1 PMP22 PNPLA6 PYGM RETREG1 SBF2 SCN9A SGCA SGCB SGCE SLC12A3 SLC19A3 SLC52A3 SMPD1 SPG11 TGFB1 TNFRSF4 TNNI3 TNPO3 TPM3 TPP1 TREX1 TRPV4 UMOD

Diseases (86) :301310 607944 606703 240300 606353 208920 159950 302500 300489 603909 261000 608443 256840 609814 610984 217800 166600 248250 255600 219900 233690 306400 609340 606482 254300 607678 603896 310300 133700 133701 229300 253000 211900 256850 610542 301500 253010 166350 224500 255125 613011 606658 160120 612933 601098 248370 134610 610951 259600 118200 180800 603622 252920 233700 233710 601455 607734 118700 148200 600995 607236 312920 118300 118220 215470 232600 613115 604563 133020 608099 604286 159900 263800 607483 211530 607616 602099 131300 615593 611880 608423 609284 609270 610448 606835 162000

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

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