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
..Intermediate young adult onset (HP:0025709)

Term ID:

25709

Name:

Intermediate young adult onset

Synonym:

Definition:

Onset of disease at an age of greater than or equal to 19 to under 25 years.

Comments:

Reference:

HP:0025709

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:0025709	HP:0025709	Intermediate young adult onset	0	ATP6AP2 CL E G H	10159	18305	OMIM:300911	Parkinsonism with spasticity, X-linked	36
HP:0025709	HP:0025709	Intermediate young adult onset	0	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease	315
HP:0025709	HP:0025709	Intermediate young adult onset	0	C14ORF39 CL E G H	317761	19849	OMIM:619203	PREMATURE OVARIAN FAILURE 18; POF18
HP:0025709	HP:0025709	Intermediate young adult onset	0	CACNB4 CL E G H	785	1404	OMIM:607682	Epilepsy, idiopathic generalized, susceptibility to, 9	146
HP:0025709	HP:0025709	Intermediate young adult onset	0	CHRNA1 CL E G H	1134	1955	OMIM:601462	Myasthenic syndrome, congenital, 1A, slow-channel	74
HP:0025709	HP:0025709	Intermediate young adult onset	0	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1	186
HP:0025709	HP:0025709	Intermediate young adult onset	0	GRN CL E G H	2896	4601	OMIM:614706	Ceroid lipofuscinosis, neuronal, 11	126
HP:0025709	HP:0025709	Intermediate young adult onset	0	JAK2 CL E G H	3717	6192	OMIM:263300	Polycythemia vera	57
HP:0025709	HP:0025709	Intermediate young adult onset	0	SLC22A12 CL E G H	116085	17989	OMIM:220150	Hypouricemia, renal, 1	56
HP:0025709	HP:0025709	Intermediate young adult onset	0	SOST CL E G H	50964	13771	OMIM:269500	Sclerosteosis 1	26
HP:0025709	HP:0025709	Intermediate young adult onset	0	TP53 CL E G H	7157	11998	OMIM:260500	Papilloma of choroid plexus	911
HP:0025709	HP:0025709	Intermediate young adult onset	0	YARS1 CL E G H	8565	12840	OMIM:608323	Charcot-Marie-Tooth disease, dominant intermediate C

Genes (12) :ATP6AP2 ATP7B C14ORF39 CACNB4 CHRNA1 ENG GRN JAK2 SLC22A12 SOST TP53 YARS1

Diseases (12) :OMIM:300911 OMIM:277900 OMIM:619203 OMIM:607682 OMIM:601462 OMIM:187300 OMIM:614706 OMIM:263300 OMIM:220150 OMIM:269500 OMIM:260500 OMIM:608323

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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