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:
Abnormal lung morphology (HP:0002088)

Parent Node:
Pneumothorax (HP:0002107)

..Starting node
..Repeated pneumothoraces (HP:0006522)

Term ID:

6522

Name:

Repeated pneumothoraces

Synonym:

Repeated pneumothorax

Definition:

Comments:

Reference:

HP:0006522

Genes and Diseases:

Child Nodes:

Sister Nodes:

Multiple bilateral pneumothoraces (HP:0005939)

Spontaneous pneumothorax (HP:0002108)

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:0006522	HP:0006522	Repeated pneumothoraces	0	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040283 - Occasional	38
HP:0006522	HP:0006522	Repeated pneumothoraces	0	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type		749

Genes (2) :B3GALT6 COL3A1

Diseases (2) :ORPHA:536467 OMIM:130050

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