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 biliary system (HP:0004297)

Parent Node:
Cholestasis (HP:0001396)

..Starting node
..Extrahepatic cholestasis (HP:0012334)

Term ID:

12334

Name:

Extrahepatic cholestasis

Synonym:

Definition:

Impairment of bile flow due to obstruction in large bile ducts outside the liver.

Comments:

Reference:

HP:0012334

Genes and Diseases:

Child Nodes:

Sister Nodes:

Acholic stools (HP:0011985)

Cholestatic liver disease (HP:0002611)

Intrahepatic cholestasis (HP:0001406)

Jaundice (HP:0000952)

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:0012334	HP:0012334	Extrahepatic cholestasis	0	BRCA1 CL E G H	672	1100	ORPHA:1333	Familial pancreatic carcinoma	HP:0040282 - Frequent	5769
HP:0012334	HP:0012334	Extrahepatic cholestasis	0	BRCA2 CL E G H	675	1101	ORPHA:1333	Familial pancreatic carcinoma	HP:0040282 - Frequent	7642
HP:0012334	HP:0012334	Extrahepatic cholestasis	0	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4	HP:0040283 - Occasional	102
HP:0012334	HP:0012334	Extrahepatic cholestasis	0	CDKN2A CL E G H	1029	1787	ORPHA:1333	Familial pancreatic carcinoma	HP:0040282 - Frequent	289
HP:0012334	HP:0012334	Extrahepatic cholestasis	0	KRAS CL E G H	3845	6407	ORPHA:1333	Familial pancreatic carcinoma	HP:0040282 - Frequent	196
HP:0012334	HP:0012334	Extrahepatic cholestasis	0	PALB2 CL E G H	79728	26144	ORPHA:1333	Familial pancreatic carcinoma	HP:0040282 - Frequent	1349
HP:0012334	HP:0012334	Extrahepatic cholestasis	0	PALLD CL E G H	23022	17068	ORPHA:1333	Familial pancreatic carcinoma	HP:0040282 - Frequent	192
HP:0012334	HP:0012334	Extrahepatic cholestasis	0	RABL3 CL E G H	285282	18072	ORPHA:1333	Familial pancreatic carcinoma	HP:0040282 - Frequent
HP:0012334	HP:0012334	Extrahepatic cholestasis	0	SMAD4 CL E G H	4089	6770	ORPHA:1333	Familial pancreatic carcinoma	HP:0040282 - Frequent	504
HP:0012334	HP:0012334	Extrahepatic cholestasis	0	TP53 CL E G H	7157	11998	ORPHA:1333	Familial pancreatic carcinoma	HP:0040282 - Frequent	911

Genes (10) :BRCA1 BRCA2 CDKN1B CDKN2A KRAS PALB2 PALLD RABL3 SMAD4 TP53

Diseases (2) :ORPHA:1333 ORPHA:276152

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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