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 respiratory system physiology (HP:0002795)

Grandparent Node:
Muscle weakness (HP:0001324)

Parent Node:
Weakness of muscles of respiration (HP:0004347)

..Starting node
..Reduced maximal expiratory pressure (HP:0012497)

Term ID:

12497

Name:

Reduced maximal expiratory pressure

Synonym:

Definition:

A decrease in the maximum amount of pressure of expired air achieved by a person after a full inspiration.

Comments:

Reference:

HP:0012497

Genes and Diseases:

Child Nodes:

Sister Nodes:

Reduced maximal inspiratory pressure (HP:0012496)

Respiratory insufficiency due to muscle weakness (HP:0002747)

Respiratory paralysis (HP:0002203)

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:0012497	HP:0012497	Reduced maximal expiratory pressure	0	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional	65
HP:0012497	HP:0012497	Reduced maximal expiratory pressure	0	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional	442
HP:0012497	HP:0012497	Reduced maximal expiratory pressure	0	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional	478
HP:0012497	HP:0012497	Reduced maximal expiratory pressure	0	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional	702

Genes (4) :COL12A1 COL6A1 COL6A2 COL6A3

Diseases (1) :ORPHA:610

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