Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

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:
Abnormal liver morphology (HP:0410042)

Parent Node:
Cystic liver disease (HP:0006706)

..Starting node
..Hepatic cysts (HP:0001407)

Term ID:

1407

Name:

Hepatic cysts

Synonym:

Liver cysts

Definition:

Comments:

Reference:

HP:0001407

Genes and Diseases:

Child Nodes:

Sister Nodes:

Polycystic liver disease (HP:0006557)

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:0001407	HP:0001407	Hepatic cysts	0	ALG5 CL E G H	29880	20266	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040281 - Very frequent
HP:0001407	HP:0001407	Hepatic cysts	0	ALG8 CL E G H	79053	23161	OMIM:617874	POLYCYSTIC LIVER DISEASE 3 WITH OR WITHOUT KIDNEY CYSTS; PCLD3		46
HP:0001407	HP:0001407	Hepatic cysts	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional	93
HP:0001407	HP:0001407	Hepatic cysts	0	ALG9 CL E G H	79796	15672	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040281 - Very frequent	93
HP:0001407	HP:0001407	Hepatic cysts	0	BICC1 CL E G H	80114	19351	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040281 - Very frequent	5
HP:0001407	HP:0001407	Hepatic cysts	0	CC2D2A CL E G H	57545	29253	OMIM:612284	Meckel syndrome, type 6		247
HP:0001407	HP:0001407	Hepatic cysts	0	DNAJB11 CL E G H	51726	14889	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040281 - Very frequent
HP:0001407	HP:0001407	Hepatic cysts	0	DNAJB11 CL E G H	51726	14889	OMIM:618061	Polycystic kidney disease 6 with or without polycystic liver disease	HP:0040284 - Very rare
HP:0001407	HP:0001407	Hepatic cysts	0	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities	HP:0040283 - Occasional	3
HP:0001407	HP:0001407	Hepatic cysts	0	GANAB CL E G H	23193	4138	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040281 - Very frequent	6
HP:0001407	HP:0001407	Hepatic cysts	0	GANAB CL E G H	23193	4138	OMIM:600666	Polycystic kidney disease 3	.	6
HP:0001407	HP:0001407	Hepatic cysts	0	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex	HP:0040283 - Occasional	23
HP:0001407	HP:0001407	Hepatic cysts	0	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia	.	93
HP:0001407	HP:0001407	Hepatic cysts	0	IFT140 CL E G H	9742	29077	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040281 - Very frequent	148
HP:0001407	HP:0001407	Hepatic cysts	0	JAK1 CL E G H	3716	6190	OMIM:618999	AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE		12
HP:0001407	HP:0001407	Hepatic cysts	0	LRP5 CL E G H	4041	6697	OMIM:617875	Polycystic liver disease 4 with or without kidney cysts		125
HP:0001407	HP:0001407	Hepatic cysts	0	NEK8 CL E G H	284086	13387	OMIM:615415	Renal-Hepatic-Pancreatic dysplasia 2		43
HP:0001407	HP:0001407	Hepatic cysts	0	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia	.	157
HP:0001407	HP:0001407	Hepatic cysts	0	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I	.	201
HP:0001407	HP:0001407	Hepatic cysts	0	PKD1 CL E G H	5310	9008	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040281 - Very frequent	342
HP:0001407	HP:0001407	Hepatic cysts	0	PKD1 CL E G H	5310	9008	OMIM:173900	Polycystic kidneys	.	342
HP:0001407	HP:0001407	Hepatic cysts	0	PKD2 CL E G H	5311	9009	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040281 - Very frequent	106
HP:0001407	HP:0001407	Hepatic cysts	0	PKD2 CL E G H	5311	9009	OMIM:613095	Polycystic kidney disease 2	HP:0040283 - Occasional	106
HP:0001407	HP:0001407	Hepatic cysts	0	PKHD1 CL E G H	5314	9016	OMIM:263200	Polycystic kidney disease 4 with or without polycystic liver disease	.	563
HP:0001407	HP:0001407	Hepatic cysts	0	SEC63 CL E G H	11231	21082	OMIM:617004	Polycystic liver disease 2	.	137
HP:0001407	HP:0001407	Hepatic cysts	0	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex	HP:0040283 - Occasional	1090
HP:0001407	HP:0001407	Hepatic cysts	0	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex	HP:0040283 - Occasional	2738
HP:0001407	HP:0001407	Hepatic cysts	0	TTC21B CL E G H	79809	25660	OMIM:613819	Short-Rib thoracic dysplasia 4 with or without polydactyly	.	132
HP:0001407	HP:0001407	Hepatic cysts	0	WDR19 CL E G H	57728	18340	OMIM:614377	Nephronophthisis 13	HP:0040283 - Occasional	95
HP:0001407	HP:0001407	Hepatic cysts	0	WDR19 CL E G H	57728	18340	OMIM:616307	Senior-Loken syndrome 8	.	95

Genes (24) :ALG5 ALG8 ALG9 BICC1 CC2D2A DNAJB11 EXTL3 GANAB IFNG IFT122 IFT140 JAK1 LRP5 NEK8 NPHP3 OFD1 PKD1 PKD2 PKHD1 SEC63 TSC1 TSC2 TTC21B WDR19

Diseases (21) :ORPHA:730 OMIM:617874 ORPHA:79328 OMIM:612284 OMIM:618061 OMIM:617425 OMIM:600666 ORPHA:805 OMIM:218330 OMIM:618999 OMIM:617875 OMIM:615415 OMIM:208540 OMIM:311200 OMIM:173900 OMIM:613095 OMIM:263200 OMIM:617004 OMIM:613819 OMIM:614377 OMIM:616307

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen