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
..Bilobed right lung (HP:0033183)

Term ID:

33183

Name:

Bilobed right lung

Synonym:

Definition:

A developmental defect of pulmonary lobation characterized by the presence of only two lobes of the right lung.

Comments:

Reference:

HP:0033183

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:0033183	HP:0033183	Bilobed right lung	0	CC2D2A CL E G H	57545	29253	OMIM:612284	Meckel syndrome, type 6	247

Genes (1) :CC2D2A

Diseases (1) :OMIM:612284

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