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:
Abnormality of the liver (HP:0001392)

Parent Node:
Abnormality of the biliary system (HP:0004297)

..Starting node
..Portal fibrosis (HP:0006580)

Term ID:

6580

Name:

Portal fibrosis

Synonym:

Portal fibrosis shown on biopsy

Definition:

Fibroblast proliferation and fiber expansion from the portal areas to the lobule.

Comments:

Reference:

HP:0006580

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormality of the gallbladder (HP:0005264)

Biliary tract abnormality (HP:0001080)

Cholestasis (HP:0001396)

Malformation of the hepatic ductal plate (HP:0006563)

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:0006580	HP:0006580	Portal fibrosis	0	ABCB4 CL E G H	5244	45	OMIM:602347	Cholestasis, progressive familial intrahepatic, 3	.	111
HP:0006580	HP:0006580	Portal fibrosis	0	ABCD3 CL E G H	5825	67	OMIM:616278	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5; CBAS5		5
HP:0006580	HP:0006580	Portal fibrosis	0	ADK CL E G H	132	257	OMIM:614300	Hypermethioninemia due to adenosine kinase deficiency	.	26
HP:0006580	HP:0006580	Portal fibrosis	0	ARG1 CL E G H	383	663	OMIM:207800	Argininemia		31
HP:0006580	HP:0006580	Portal fibrosis	0	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease		315
HP:0006580	HP:0006580	Portal fibrosis	0	CC2D2A CL E G H	57545	29253	OMIM:619111	COACH SYNDROME 2; COACH2		247
HP:0006580	HP:0006580	Portal fibrosis	0	CEP83 CL E G H	51134	17966	OMIM:615862	Nephronophthisis 18	HP:0040283 - Occasional	10
HP:0006580	HP:0006580	Portal fibrosis	0	DCDC2 CL E G H	51473	18141	OMIM:617394	Sclerosing cholangitis, neonatal		8
HP:0006580	HP:0006580	Portal fibrosis	0	MYO5B CL E G H	4645	7603	OMIM:619868			192
HP:0006580	HP:0006580	Portal fibrosis	0	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040284 - Very rare	54
HP:0006580	HP:0006580	Portal fibrosis	0	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040284 - Very rare	48
HP:0006580	HP:0006580	Portal fibrosis	0	PYGL CL E G H	5836	9725	ORPHA:369	Glycogen storage disease due to liver glycogen phosphorylase deficiency	HP:0040283 - Occasional	71
HP:0006580	HP:0006580	Portal fibrosis	0	RPGRIP1L CL E G H	23322	29168	OMIM:619113	COACH SYNDROME 3; COACH3		167
HP:0006580	HP:0006580	Portal fibrosis	0	UNC45A CL E G H	55898	30594	OMIM:619377	OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0006580	HP:0006580	Portal fibrosis	0	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2	.	136

Genes (15) :ABCB4 ABCD3 ADK ARG1 ATP7B CC2D2A CEP83 DCDC2 MYO5B PHKA2 PHKG2 PYGL RPGRIP1L UNC45A WDR35

Diseases (14) :OMIM:602347 OMIM:616278 OMIM:614300 OMIM:207800 OMIM:277900 OMIM:619111 OMIM:615862 OMIM:617394 OMIM:619868 ORPHA:264580 ORPHA:369 OMIM:619113 OMIM:619377 OMIM:613610

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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