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
..Aplasia of the right hemidiaphragm (HP:0032592)

Term ID:

32592

Name:

Aplasia of the right hemidiaphragm

Synonym:

Right diaphragmatic hernia

Definition:

Congenital absence of the right-sided diaphragm.

Comments:

Reference:

HP:0032592

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:0032592	HP:0032592	Aplasia of the right hemidiaphragm	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0032592	HP:0032592	Aplasia of the right hemidiaphragm	0	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME	177

Genes (2) :CDC42BPB WT1

Diseases (2) :OMIM:619841 OMIM:608978

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