Human Phenotype Ontology

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 gallbladder (HP:0005264)

Parent Node:
Abnormal gallbladder morphology (HP:0012437)

..Starting node
..Bilobate gallbladder (HP:0005608)

Term ID:

5608

Name:

Bilobate gallbladder

Synonym:

Bilobed gallbladder; Double gallbladder; Gallbladder duplication; Gallbladder septated

Definition:

The presence of a bilobed gallbladder, related to a duplication of the gallbladder primordium.

Comments:

Reference:

HP:0005608

Genes and Diseases:

Child Nodes:

Sister Nodes:

Aplasia/Hypoplasia of the gallbladder (HP:0011466)

Cholelithiasis (HP:0001081)

Cystic artery pseudoaneurysm (HP:0030170)

Gallbladder perforation (HP:0030154)

Neoplasm of the gallbladder (HP:0100575)

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:0005608	HP:0005608	Bilobate gallbladder	0	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.	36
HP:0005608	HP:0005608	Bilobate gallbladder	0	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS		80

Genes (2) :B3GLCT SC5D

Diseases (2) :OMIM:261540 OMIM:607330

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.