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

..Starting node
..Early young adult onset (HP:0025708)

Term ID:

25708

Name:

Early young adult onset

Synonym:

Definition:

Onset of disease at an age of greater than or equal to 16 to under 19 years.

Comments:

Reference:

HP:0025708

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0025708	HP:0025708	Early young adult onset	0	ALG10B CL E G H	144245	31088	OMIM:613688	Long QT syndrome 2	3
HP:0025708	HP:0025708	Early young adult onset	0	B2M CL E G H	567	914	OMIM:241600	Immunodeficiency 43	8
HP:0025708	HP:0025708	Early young adult onset	0	BVES CL E G H	11149	1152	OMIM:616812	Muscular dystrophy, limb-girdle, autosomal recessive 25	2
HP:0025708	HP:0025708	Early young adult onset	0	CARD9 CL E G H	64170	16391	OMIM:212050	Candidiasis, familial chronic mucocutaneous, autosomal recessive	45
HP:0025708	HP:0025708	Early young adult onset	0	CEBPE CL E G H	1053	1836	OMIM:260570	Pelger-Huet-Like anomaly and episodic fever with abdominal pain	3
HP:0025708	HP:0025708	Early young adult onset	0	CLCN1 CL E G H	1180	2019	OMIM:160800	Myotonia congenita, autosomal dominant	133
HP:0025708	HP:0025708	Early young adult onset	0	COL2A1 CL E G H	1280	2200	OMIM:608805	Avascular necrosis of femoral head, primary, 1	284
HP:0025708	HP:0025708	Early young adult onset	0	DNAJC3 CL E G H	5611	9439	OMIM:616192	Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus	3
HP:0025708	HP:0025708	Early young adult onset	0	DSP CL E G H	1832	3052	OMIM:607450	Arrhythmogenic right ventricular dysplasia, familial, 8	747
HP:0025708	HP:0025708	Early young adult onset	0	EIF2AK2 CL E G H	5610	9437	OMIM:619687	DYSTONIA 33; DYT33
HP:0025708	HP:0025708	Early young adult onset	0	GPIHBP1 CL E G H	338328	24945	OMIM:615947	Hyperlipoproteinemia, type ID	12
HP:0025708	HP:0025708	Early young adult onset	0	GYG1 CL E G H	2992	4699	OMIM:613507	Glycogen storage disease XV	18
HP:0025708	HP:0025708	Early young adult onset	0	HCN4 CL E G H	10021	16882	OMIM:163800	Sick sinus syndrome 2	185
HP:0025708	HP:0025708	Early young adult onset	0	HTRA1 CL E G H	5654	9476	OMIM:600142	Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)	34
HP:0025708	HP:0025708	Early young adult onset	0	KCNA5 CL E G H	3741	6224	OMIM:612240	Atrial fibrillation, familial, 7	38
HP:0025708	HP:0025708	Early young adult onset	0	KCNE1 CL E G H	3753	6240	OMIM:613695	Long QT syndrome 5	148
HP:0025708	HP:0025708	Early young adult onset	0	KCNH2 CL E G H	3757	6251	OMIM:613688	Long QT syndrome 2	901
HP:0025708	HP:0025708	Early young adult onset	0	KCNJ2 CL E G H	3759	6263	OMIM:170390	Andersen cardiodysrhythmic periodic paralysis	193
HP:0025708	HP:0025708	Early young adult onset	0	KCNJ5 CL E G H	3762	6266	OMIM:613485	Long QT syndrome 13	128
HP:0025708	HP:0025708	Early young adult onset	0	KCTD17 CL E G H	79734	25705	OMIM:616398	Dystonia 26, myoclonic	1
HP:0025708	HP:0025708	Early young adult onset	0	LHB CL E G H	3972	6584	OMIM:228300	Hypogonadotropic hypogonadism 23 without anosmia	9
HP:0025708	HP:0025708	Early young adult onset	0	LIG3 CL E G H	3980	6600	OMIM:619780	MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE); MTDPS20	1
HP:0025708	HP:0025708	Early young adult onset	0	LMNA CL E G H	4000	6636	OMIM:181350	Emery-Dreifuss muscular dystrophy 2, autosomal dominant	645
HP:0025708	HP:0025708	Early young adult onset	0	NRCAM CL E G H	4897	7994	OMIM:619833		2
HP:0025708	HP:0025708	Early young adult onset	0	PIK3R5 CL E G H	23533	30035	OMIM:615217	Ataxia-Oculomotor apraxia 3	11
HP:0025708	HP:0025708	Early young adult onset	0	PMP2 CL E G H	5375	9117	OMIM:618279	Charcot-Marie-Tooth disease, demyelinating, type 1G	1
HP:0025708	HP:0025708	Early young adult onset	0	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	464
HP:0025708	HP:0025708	Early young adult onset	0	PRKRA CL E G H	8575	9438	OMIM:612067	Dystonia 16	37
HP:0025708	HP:0025708	Early young adult onset	0	SELENBP1 CL E G H	8991	10719	OMIM:618148	Extraoral halitosis due to MTO deficiency
HP:0025708	HP:0025708	Early young adult onset	0	SEMA3A CL E G H	10371	10723	OMIM:614897	Hypogonadotropic hypogonadism 16 with or without anosmia	14
HP:0025708	HP:0025708	Early young adult onset	0	SERPINA1 CL E G H	5265	8941	OMIM:613490	Alpha-1-Antitrypsin deficiency	131
HP:0025708	HP:0025708	Early young adult onset	0	SLC4A4 CL E G H	8671	11030	OMIM:604278	Renal tubular acidosis, proximal, with ocular abnormalities and mentalretardation	89
HP:0025708	HP:0025708	Early young adult onset	0	SMN1 CL E G H	6606	11117	OMIM:253400	Spinal muscular atrophy, type III	22
HP:0025708	HP:0025708	Early young adult onset	0	SMN2 CL E G H	6607	11118	OMIM:253400	Spinal muscular atrophy, type III	1
HP:0025708	HP:0025708	Early young adult onset	0	SNTA1 CL E G H	6640	11167	OMIM:612955	Long QT syndrome 12	118
HP:0025708	HP:0025708	Early young adult onset	0	STAT1 CL E G H	6772	11362	OMIM:614162	Immunodeficiency 31C	89
HP:0025708	HP:0025708	Early young adult onset	0	TLR7 CL E G H	51284	15631	OMIM:301080
HP:0025708	HP:0025708	Early young adult onset	0	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0025708	HP:0025708	Early young adult onset	0	TOR1AIP1 CL E G H	26092	29456	OMIM:617072	Muscular dystrophy, limb-girdle, type 2Y	10
HP:0025708	HP:0025708	Early young adult onset	0	TTN CL E G H	7273	12403	OMIM:608807	Muscular dystrophy, limb-girdle, autosomal recessive 10	7128
HP:0025708	HP:0025708	Early young adult onset	0	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	113
HP:0025708	HP:0025708	Early young adult onset	0	UNC13D CL E G H	201294	23147	OMIM:608898	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3	116

Genes (42) :ALG10B B2M BVES CARD9 CEBPE CLCN1 COL2A1 DNAJC3 DSP EIF2AK2 GPIHBP1 GYG1 HCN4 HTRA1 KCNA5 KCNE1 KCNH2 KCNJ2 KCNJ5 KCTD17 LHB LIG3 LMNA NRCAM PIK3R5 PMP2 POLG PRKRA SELENBP1 SEMA3A SERPINA1 SLC4A4 SMN1 SMN2 SNTA1 STAT1 TLR7 TLR8 TOR1AIP1 TTN TWNK UNC13D

Diseases (39) :OMIM:613688 OMIM:241600 OMIM:616812 OMIM:212050 OMIM:260570 OMIM:160800 OMIM:608805 OMIM:616192 OMIM:607450 OMIM:619687 OMIM:615947 OMIM:613507 OMIM:163800 OMIM:600142 OMIM:612240 OMIM:613695 OMIM:170390 OMIM:613485 OMIM:616398 OMIM:228300 OMIM:619780 OMIM:181350 OMIM:619833 OMIM:615217 OMIM:618279 OMIM:607459 OMIM:612067 OMIM:618148 OMIM:614897 OMIM:613490 OMIM:604278 OMIM:253400 OMIM:612955 OMIM:614162 OMIM:301080 OMIM:301078 OMIM:617072 OMIM:608807 OMIM:608898

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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