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:
Biliary tract abnormality (HP:0001080)

Parent Node:
Abnormal biliary tract morphology (HP:0012440)

..Starting node
..Abnormality of the ductus choledochus (HP:0100889)

Term ID:

100889

Name:

Abnormality of the ductus choledochus

Synonym:

Abnormality of the common bile duct

Definition:

An abnormality of the Common bile duct, a tube-like anatomic structure in the human gastrointestinal tract, formed by the union of the Common hepatic duct and the Cystic duct from the gall bladder.

Comments:

Reference:

HP:0100889

Genes and Diseases:

Child Nodes:

........

Cyst of the ductus choledochus (HP:0100890)

Sister Nodes:

Abnormal intrahepatic bile duct morphology (HP:0011040)

Bile duct proliferation (HP:0001408)

Biliary atresia (HP:0005912)

Biliary cirrhosis (HP:0002613)

Biliary epithelial hyperplasia (HP:0030986)

Biliary hyperplasia (HP:0006560)

Biliary tract neoplasm (HP:0100574)

Biliary tract obstruction (HP:0005230)

Cholangitis (HP:0030151)

Portosystemic collateral veins (HP:0025154)

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:0100889	HP:0100889	Abnormality of the ductus choledochus	0	PI4KA CL E G H	5297	8983	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum	HP:0040283 - Occasional	11
HP:0100889	HP:0100889	Abnormality of the ductus choledochus	0	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0100889	HP:0100889	Abnormality of the ductus choledochus	0	TTC7A CL E G H	57217	19750	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum	HP:0040283 - Occasional	26
HP:0100889	HP:0100889	Abnormality of the ductus choledochus	0	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability		27
HP:0100889	HP:0100890	Cyst of the ductus choledochus	1	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0100889	HP:0100890	Cyst of the ductus choledochus	1	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability	HP:0040283 - Occasional	27

Genes (4) :PI4KA SUPT16H TTC7A USP9X

Diseases (3) :ORPHA:436252 OMIM:619480 ORPHA:480880

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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