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)

Parent Node:
Abnormality on pulmonary function testing (HP:0030878)

Parent Node:
Airway obstruction (HP:0006536)

..Starting node
..Reduced FEV1/FVC ratio (HP:0030877)

Term ID:

30877

Name:

Reduced FEV1/FVC ratio

Synonym:

Obstructive deficit on pulmonary function test; Obstructive deficit on pulmonary function testing

Definition:

Abnormally low FEV1/FVC (FEV1 - forced expiratory volume in 1 second; FVC forced vital capacity).

Comments:

Reference:

HP:0030877

Genes and Diseases:

Child Nodes:

Sister Nodes:

Chronic pulmonary obstruction (HP:0006510)

obsolete Chronic obstructive airway disease from birth (HP:0006541)

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:0030877	HP:0030877	Reduced FEV1/FVC ratio	0	CFTR CL E G H	1080	1884	ORPHA:60033	Idiopathic bronchiectasis	HP:0040282 - Frequent	1371
HP:0030877	HP:0030877	Reduced FEV1/FVC ratio	0	DNAH11 CL E G H	8701	2942	OMIM:611884	CILIARY DYSKINESIA, PRIMARY, 7; CILD7		542
HP:0030877	HP:0030877	Reduced FEV1/FVC ratio	0	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1		186
HP:0030877	HP:0030877	Reduced FEV1/FVC ratio	0	HLA-DPB1 CL E G H	3115	4940	ORPHA:133	Chronic beryllium disease	HP:0040282 - Frequent	1
HP:0030877	HP:0030877	Reduced FEV1/FVC ratio	0	SCNN1A CL E G H	6337	10599	ORPHA:60033	Idiopathic bronchiectasis	HP:0040282 - Frequent	67
HP:0030877	HP:0030877	Reduced FEV1/FVC ratio	0	SCNN1B CL E G H	6338	10600	ORPHA:60033	Idiopathic bronchiectasis	HP:0040282 - Frequent	61
HP:0030877	HP:0030877	Reduced FEV1/FVC ratio	0	SCNN1G CL E G H	6340	10602	ORPHA:60033	Idiopathic bronchiectasis	HP:0040282 - Frequent	57

Genes (7) :CFTR DNAH11 ENG HLA-DPB1 SCNN1A SCNN1B SCNN1G

Diseases (4) :ORPHA:60033 OMIM:611884 OMIM:187300 ORPHA:133

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