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

Grandparent Node:
Abnormality of the diaphragm (HP:0000775)

Parent Node:
Abnormal hemidiaphragm morphology (HP:0040045)

..Starting node
..Abnormal right hemidiaphragm morphology (HP:0040047)

Term ID:

40047

Name:

Abnormal right hemidiaphragm morphology

Synonym:

Abnormality of the right hemidiaphragm

Definition:

Comments:

Reference:

HP:0040047

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal left hemidiaphragm morphology (HP:0040046)

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:0040047	HP:0040047	Abnormal right hemidiaphragm morphology	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0040047	HP:0040047	Abnormal right hemidiaphragm morphology	0	GNE CL E G H	10020	23657	ORPHA:602	GNE myopathy	HP:0040283 - Occasional	173
HP:0040047	HP:0040047	Abnormal right hemidiaphragm morphology	0	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME		177
HP:0040047	HP:0032592	Aplasia of the right hemidiaphragm	1	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0040047	HP:0032592	Aplasia of the right hemidiaphragm	1	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME		177

Genes (3) :CDC42BPB GNE WT1

Diseases (3) :OMIM:619841 ORPHA:602 OMIM:608978

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