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:
Respiratory tract infection (HP:0011947)

Parent Node:
Recurrent acute respiratory tract infection (HP:0011948)

..Starting node
..Acute infectious pneumonia (HP:0011949)

Term ID:

11949

Name:

Acute infectious pneumonia

Synonym:

Definition:

Acute inflammation of the lung due to an infection.

Comments:

Reference:

HP:0011949

Genes and Diseases:

Child Nodes:

Sister Nodes:

Bronchiolitis (HP:0011950)

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:0011949	HP:0011949	Acute infectious pneumonia	0	CFTR CL E G H	1080	1884	ORPHA:60033	Idiopathic bronchiectasis	HP:0040283 - Occasional	1371
HP:0011949	HP:0011949	Acute infectious pneumonia	0	CSF2RA CL E G H	1438	2435	ORPHA:264675	Hereditary pulmonary alveolar proteinosis	HP:0040283 - Occasional	15
HP:0011949	HP:0011949	Acute infectious pneumonia	0	CSF2RB CL E G H	1439	2436	ORPHA:264675	Hereditary pulmonary alveolar proteinosis	HP:0040283 - Occasional	17
HP:0011949	HP:0011949	Acute infectious pneumonia	0	SCNN1A CL E G H	6337	10599	ORPHA:60033	Idiopathic bronchiectasis	HP:0040283 - Occasional	67
HP:0011949	HP:0011949	Acute infectious pneumonia	0	SCNN1B CL E G H	6338	10600	ORPHA:60033	Idiopathic bronchiectasis	HP:0040283 - Occasional	61
HP:0011949	HP:0011949	Acute infectious pneumonia	0	SCNN1G CL E G H	6340	10602	ORPHA:60033	Idiopathic bronchiectasis	HP:0040283 - Occasional	57

Genes (6) :CFTR CSF2RA CSF2RB SCNN1A SCNN1B SCNN1G

Diseases (2) :ORPHA:60033 ORPHA:264675

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