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:
Abnormal liver morphology (HP:0410042)

Parent Node:
Cystic liver disease (HP:0006706)

..Starting node
..Polycystic liver disease (HP:0006557)

Term ID:

6557

Name:

Polycystic liver disease

Synonym:

Definition:

Comments:

Reference:

HP:0006557

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hepatic cysts (HP:0001407)

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:0006557	HP:0006557	Polycystic liver disease	0	ALG5 CL E G H	29880	20266	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040283 - Occasional
HP:0006557	HP:0006557	Polycystic liver disease	0	ALG9 CL E G H	79796	15672	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040283 - Occasional	93
HP:0006557	HP:0006557	Polycystic liver disease	0	BICC1 CL E G H	80114	19351	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040283 - Occasional	5
HP:0006557	HP:0006557	Polycystic liver disease	0	DNAJB11 CL E G H	51726	14889	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040283 - Occasional
HP:0006557	HP:0006557	Polycystic liver disease	0	GANAB CL E G H	23193	4138	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040283 - Occasional	6
HP:0006557	HP:0006557	Polycystic liver disease	0	IFT140 CL E G H	9742	29077	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040283 - Occasional	148
HP:0006557	HP:0006557	Polycystic liver disease	0	LRP5 CL E G H	4041	6697	ORPHA:2924	Isolated polycystic liver disease	HP:0040281 - Very frequent	125
HP:0006557	HP:0006557	Polycystic liver disease	0	PKD1 CL E G H	5310	9008	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040283 - Occasional	342
HP:0006557	HP:0006557	Polycystic liver disease	0	PKD2 CL E G H	5311	9009	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040283 - Occasional	106
HP:0006557	HP:0006557	Polycystic liver disease	0	PRKCSH CL E G H	5589	9411	ORPHA:2924	Isolated polycystic liver disease	HP:0040281 - Very frequent	63
HP:0006557	HP:0006557	Polycystic liver disease	0	PRKCSH CL E G H	5589	9411	OMIM:174050	Polycystic liver disease 1 with or without kidney cysts	.	63
HP:0006557	HP:0006557	Polycystic liver disease	0	SEC63 CL E G H	11231	21082	ORPHA:2924	Isolated polycystic liver disease	HP:0040281 - Very frequent	137

Genes (11) :ALG5 ALG9 BICC1 DNAJB11 GANAB IFT140 LRP5 PKD1 PKD2 PRKCSH SEC63

Diseases (3) :ORPHA:730 ORPHA:2924 OMIM:174050

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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