Human Phenotype Ontology

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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:
Mortality/Aging (HP:0040006)

Parent Node:
Age of death (HP:0011420)

..Starting node
..Death in early adulthood (HP:0100613)

Term ID:

100613

Name:

Death in early adulthood

Synonym:

Death in early adulthood

Definition:

Death between the age of 16 and 40 years.

Comments:

Reference:

HP:0100613

Genes and Diseases:

Child Nodes:

Sister Nodes:

Death in adolescence (HP:0011421)

Death in childhood (HP:0003819)

Death in infancy (HP:0001522)

Neonatal death (HP:0003811)

Stillbirth (HP:0003826)

Sudden death (HP:0001699)

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:0100613	HP:0100613	Death in early adulthood	0	ACTB CL E G H	60	132	ORPHA:79107	Developmental malformations-deafness-dystonia syndrome	HP:0040281 - Very frequent	72
HP:0100613	HP:0100613	Death in early adulthood	0	APP CL E G H	351	620	ORPHA:100006	ABeta amyloidosis, Dutch type	HP:0040283 - Occasional	74
HP:0100613	HP:0100613	Death in early adulthood	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0100613	HP:0100613	Death in early adulthood	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0100613	HP:0100613	Death in early adulthood	0	BCS1L CL E G H	617	1020	ORPHA:53693	GRACILE syndrome	HP:0040282 - Frequent	72
HP:0100613	HP:0100613	Death in early adulthood	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0100613	HP:0100613	Death in early adulthood	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0100613	HP:0100613	Death in early adulthood	0	CST3 CL E G H	1471	2475	ORPHA:100008	ACys amyloidosis	HP:0040283 - Occasional	3
HP:0100613	HP:0100613	Death in early adulthood	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0100613	HP:0100613	Death in early adulthood	0	DSP CL E G H	1832	3052	OMIM:605676	Cardiomyopathy, dilated, with woolly hair and keratoderma		747
HP:0100613	HP:0100613	Death in early adulthood	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0100613	HP:0100613	Death in early adulthood	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	172
HP:0100613	HP:0100613	Death in early adulthood	0	EPCAM CL E G H	4072	11529	ORPHA:144	Lynch syndrome	HP:0040282 - Frequent	170
HP:0100613	HP:0100613	Death in early adulthood	0	FAN1 CL E G H	22909	29170	ORPHA:144	Lynch syndrome	HP:0040282 - Frequent	15
HP:0100613	HP:0100613	Death in early adulthood	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0100613	HP:0100613	Death in early adulthood	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0100613	HP:0100613	Death in early adulthood	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0100613	HP:0100613	Death in early adulthood	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0100613	HP:0100613	Death in early adulthood	0	KRAS CL E G H	3845	6407	ORPHA:144	Lynch syndrome	HP:0040282 - Frequent	196
HP:0100613	HP:0100613	Death in early adulthood	0	LAMC2 CL E G H	3918	6493	OMIM:619786	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 3B, SEVERE; JEB3B		135
HP:0100613	HP:0100613	Death in early adulthood	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0100613	HP:0100613	Death in early adulthood	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0100613	HP:0100613	Death in early adulthood	0	MLH1 CL E G H	4292	7127	ORPHA:144	Lynch syndrome	HP:0040282 - Frequent	1819
HP:0100613	HP:0100613	Death in early adulthood	0	MLH3 CL E G H	27030	7128	ORPHA:144	Lynch syndrome	HP:0040282 - Frequent	131
HP:0100613	HP:0100613	Death in early adulthood	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0100613	HP:0100613	Death in early adulthood	0	MSH2 CL E G H	4436	7325	ORPHA:144	Lynch syndrome	HP:0040282 - Frequent	2162
HP:0100613	HP:0100613	Death in early adulthood	0	MSH6 CL E G H	2956	7329	ORPHA:144	Lynch syndrome	HP:0040282 - Frequent	2232
HP:0100613	HP:0100613	Death in early adulthood	0	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive		1269
HP:0100613	HP:0100613	Death in early adulthood	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	13
HP:0100613	HP:0100613	Death in early adulthood	0	PIK3CA CL E G H	5290	8975	ORPHA:144	Lynch syndrome	HP:0040282 - Frequent	162
HP:0100613	HP:0100613	Death in early adulthood	0	PMS1 CL E G H	5378	9121	ORPHA:144	Lynch syndrome	HP:0040282 - Frequent	56
HP:0100613	HP:0100613	Death in early adulthood	0	PMS2 CL E G H	5395	9122	ORPHA:144	Lynch syndrome	HP:0040282 - Frequent	1121
HP:0100613	HP:0100613	Death in early adulthood	0	POLG CL E G H	5428	9179	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)	.	464
HP:0100613	HP:0100613	Death in early adulthood	0	POLR3A CL E G H	11128	30074	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism		138
HP:0100613	HP:0100613	Death in early adulthood	0	POLR3B CL E G H	55703	30348	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism		67
HP:0100613	HP:0100613	Death in early adulthood	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0100613	HP:0100613	Death in early adulthood	0	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome	HP:0040283 - Occasional	65
HP:0100613	HP:0100613	Death in early adulthood	0	SCN4A CL E G H	6329	10591	ORPHA:682	Hyperkalemic periodic paralysis	HP:0040283 - Occasional	263
HP:0100613	HP:0100613	Death in early adulthood	0	SLC9A6 CL E G H	10479	11079	ORPHA:85278	Christianson syndrome	HP:0040283 - Occasional	93
HP:0100613	HP:0100613	Death in early adulthood	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0100613	HP:0100613	Death in early adulthood	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0100613	HP:0100613	Death in early adulthood	0	TGFBR2 CL E G H	7048	11773	ORPHA:144	Lynch syndrome	HP:0040282 - Frequent	253
HP:0100613	HP:0100613	Death in early adulthood	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0100613	HP:0100613	Death in early adulthood	0	TYMP CL E G H	1890	3148	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)	.	138
HP:0100613	HP:0100613	Death in early adulthood	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0100613	HP:0100613	Death in early adulthood	0	VPS4A CL E G H	27183	13488	OMIM:619273	CIMDAG SYNDROME; CIMDAG		1
HP:0100613	HP:0100613	Death in early adulthood	0	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy		83

Genes (47) :ACTB APP BAZ1B BCL7B BCS1L BUD23 CLIP2 CST3 DNAJC30 DSP EIF4H ELN EPCAM FAN1 FKBP6 GTF2I GTF2IRD1 GTF2IRD2 KRAS LAMC2 LIMK1 METTL27 MLH1 MLH3 MLXIPL MSH2 MSH6 MYH7 NCF1 PIK3CA PMS1 PMS2 POLG POLR3A POLR3B RFC2 RPS6KA3 SCN4A SLC9A6 STX1A TBL2 TGFBR2 TMEM270 TYMP VPS37D VPS4A ZMPSTE24

Diseases (16) :ORPHA:79107 ORPHA:100006 ORPHA:904 ORPHA:53693 ORPHA:100008 OMIM:605676 ORPHA:144 OMIM:619786 OMIM:255160 OMIM:603041 OMIM:607694 ORPHA:192 ORPHA:682 ORPHA:85278 OMIM:619273 OMIM:608612

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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