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
..Hepatopulmonary fusion (HP:0410259)

Term ID:

410259

Name:

Hepatopulmonary fusion

Synonym:

Hepatic pulmonary fusion

Definition:

Fusion of the liver with the lung.

Comments:

Reference:

HP:0410259

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0410259	HP:0410259	Hepatopulmonary fusion	0	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome	.	2

Genes (1) :MYRF

Diseases (1) :OMIM:618280

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