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:
Abnormal liver morphology (HP:0410042)

Parent Node:
Hepatic fibrosis (HP:0001395)

..Starting node
..Periportal fibrosis (HP:0001405)

Term ID:

1405

Name:

Periportal fibrosis

Synonym:

Definition:

The presence of fibrosis affecting the interlobular stroma of liver.

Comments:

Reference:

HP:0001405

Genes and Diseases:

Child Nodes:

Sister Nodes:

Congenital hepatic fibrosis (HP:0002612)

Hepatic bridging fibrosis (HP:0012852)

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:0001405	HP:0001405	Periportal fibrosis	0	ACADVL CL E G H	37	92	OMIM:201475	Very long-chain acyl-CoA dehydrogenase deficiency		200
HP:0001405	HP:0001405	Periportal fibrosis	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional	93
HP:0001405	HP:0001405	Periportal fibrosis	0	ALG9 CL E G H	79796	15672	OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome		93
HP:0001405	HP:0001405	Periportal fibrosis	0	ANKS6 CL E G H	203286	26724	OMIM:615382	Nephronophthisis 16		32
HP:0001405	HP:0001405	Periportal fibrosis	0	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1		72
HP:0001405	HP:0001405	Periportal fibrosis	0	DGUOK CL E G H	1716	2858	OMIM:251880	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	.	57
HP:0001405	HP:0001405	Periportal fibrosis	0	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040281 - Very frequent	4
HP:0001405	HP:0001405	Periportal fibrosis	0	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency		73
HP:0001405	HP:0001405	Periportal fibrosis	0	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040281 - Very frequent	563
HP:0001405	HP:0001405	Periportal fibrosis	0	PKHD1 CL E G H	5314	9016	OMIM:263200	Polycystic kidney disease 4 with or without polycystic liver disease	.	563
HP:0001405	HP:0001405	Periportal fibrosis	0	SLC51A CL E G H	200931	29955	OMIM:619484	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 6; PFIC6
HP:0001405	HP:0001405	Periportal fibrosis	0	SLC51B CL E G H	123264	29956	OMIM:619481	BILE ACID MALABSORPTION, PRIMARY, 2; PBAM2

Genes (10) :ACADVL ALG9 ANKS6 BCS1L DGUOK DZIP1L LIPA PKHD1 SLC51A SLC51B

Diseases (11) :OMIM:201475 ORPHA:79328 OMIM:263210 OMIM:615382 OMIM:124000 OMIM:251880 ORPHA:731 OMIM:278000 OMIM:263200 OMIM:619484 OMIM:619481

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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