Human Phenotype Ontology

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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

..Starting node
..Intrahepatic bile duct dilatation (HP:0033149)

Term ID:

33149

Name:

Intrahepatic bile duct dilatation

Synonym:

Dilatation of intrahepatic biliary ducts

Definition:

Increased diameter (caliber) of intrahepatic bile ducts (bile ducts that transport bile between the Canals of Hering and the interlobar bile ducts).

Comments:

Reference:

HP:0033149

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0033149	HP:0033149	Intrahepatic bile duct dilatation	0	KIF3B CL E G H	9371	6320	OMIM:618955	RETINITIS PIGMENTOSA 89; RP89
HP:0033149	HP:0033149	Intrahepatic bile duct dilatation	0	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR	228
HP:0033149	HP:0033149	Intrahepatic bile duct dilatation	0	TMEM67 CL E G H	91147	28396	OMIM:216360	Coach syndrome 1	166
HP:0033149	HP:0033149	Intrahepatic bile duct dilatation	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0033149	HP:0033149	Intrahepatic bile duct dilatation	0	WDR19 CL E G H	57728	18340	OMIM:614377	Nephronophthisis 13	95
HP:0033149	HP:0033149	Intrahepatic bile duct dilatation	0	WDR19 CL E G H	57728	18340	OMIM:616307	Senior-Loken syndrome 8	95

Genes (5) :KIF3B MED12 TMEM67 TTC26 WDR19

Diseases (6) :OMIM:618955 OMIM:301068 OMIM:216360 OMIM:619534 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.