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:
Behavioral abnormality (HP:0000708)

Parent Node:
Impairment in personality functioning (HP:0031466)

Parent Node:
Mania (HP:0100754)

..Starting node
..Bipolar affective disorder (HP:0007302)

Term ID:

7302

Name:

Bipolar affective disorder

Synonym:

Bipolar disorder

Definition:

Comments:

Reference:

HP:0007302

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0007302	HP:0007302	Bipolar affective disorder	0	ATP2A2 CL E G H	488	124200	Keratosis follicularis	124200	C0022595	OMIM	1	234	812	108740
HP:0007302	HP:0007302	Bipolar affective disorder	0	CLCN4 CL E G H	1183	300114	Mental retardation 49, X-linked	300114	C3887959	OMIM	1	686	2022	302910
HP:0007302	HP:0007302	Bipolar affective disorder	0	TBX1 CL E G H	6899	188400	DiGeorge sequence	188400	C0012236	OMIM	1	1169	11592	602054
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0007302	HP:0007302	Bipolar affective disorder	0	ARVCF CL E G H	421	567				ORPHA	0	620	728	602269
HP:0007302	HP:0007302	Bipolar affective disorder	0	CDH23 CL E G H	64072	96253				ORPHA	0	4522	13733	605516
HP:0007302	HP:0007302	Bipolar affective disorder	0	CHRNA7 CL E G H	1139	199318				ORPHA	0	384	1960	118511
HP:0007302	HP:0007302	Bipolar affective disorder	0	COMT CL E G H	1312	567				ORPHA	0	610	2228	116790
HP:0007302	HP:0007302	Bipolar affective disorder	0	FLI1 CL E G H	2313	2308	Fetal minoxidil syndrome			ORPHA	0	223	3749	193067
HP:0007302	HP:0007302	Bipolar affective disorder	0	GP1BB CL E G H	2812	567				ORPHA	0	479	4440	138720
HP:0007302	HP:0007302	Bipolar affective disorder	0	HIRA CL E G H	7290	567				ORPHA	0	476	4916	600237
HP:0007302	HP:0007302	Bipolar affective disorder	0	JMJD1C CL E G H	221037	567				ORPHA	0	1178	12313	604503
HP:0007302	HP:0007302	Bipolar affective disorder	0	POLG CL E G H	5428	254892				ORPHA	0	2324	9179	174763
HP:0007302	HP:0007302	Bipolar affective disorder	0	POLG2 CL E G H	11232	254892				ORPHA	0	357	9180	604983
HP:0007302	HP:0007302	Bipolar affective disorder	0	RPS6KA3 CL E G H	6197	276630				ORPHA	0	515	10432	300075
HP:0007302	HP:0007302	Bipolar affective disorder	0	RREB1 CL E G H	6239	567				ORPHA	0	297	10449	602209
HP:0007302	HP:0007302	Bipolar affective disorder	0	RRM2B CL E G H	50484	254892				ORPHA	0	354	17296	604712
HP:0007302	HP:0007302	Bipolar affective disorder	0	SEC24C CL E G H	9632	567				ORPHA	0	58	10705	607185
HP:0007302	HP:0007302	Bipolar affective disorder	0	SLC25A4 CL E G H	291	254892				ORPHA	0	333	10990	103220
HP:0007302	HP:0007302	Bipolar affective disorder	0	TBX1 CL E G H	6899	567				ORPHA	0	1169	11592	602054
HP:0007302	HP:0007302	Bipolar affective disorder	0	TWNK CL E G H	56652	254892				ORPHA	0	450	1160	606075
HP:0007302	HP:0007302	Bipolar affective disorder	0	UFD1 CL E G H	7353	567				ORPHA	0	415	12520	601754
HP:0007302	HP:0007302	Bipolar affective disorder	0	USP8 CL E G H	9101	96253				ORPHA	0	158	12631	603158

Genes (21) :ARVCF ATP2A2 CDH23 CHRNA7 CLCN4 COMT FLI1 GP1BB HIRA JMJD1C POLG POLG2 RPS6KA3 RREB1 RRM2B SEC24C SLC25A4 TBX1 TWNK UFD1 USP8

Diseases (9) :567 124200 96253 199318 300114 2308 254892 276630 188400

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

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