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 middle ear (HP:0000370)

Grandparent Node:
Increased inflammatory response (HP:0012649)

Parent Node:
Otitis media (HP:0000388)

..Starting node
..Acute otitis media (HP:0000371)

Term ID:

371

Name:

Acute otitis media

Synonym:

Acute middle ear infection

Definition:

Acute otitis media is a short and generally painful infection of the middle ear.

Comments:

Reference:

HP:0000371

Genes and Diseases:

Child Nodes:

Sister Nodes:

Chronic otitis media (HP:0000389)

Otitis media with effusion (HP:0031353)

Recurrent otitis media (HP:0000403)

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:0000371	HP:0000371	Acute otitis media	0	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional	118
HP:0000371	HP:0000371	Acute otitis media	0	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency	HP:0040283 - Occasional	140
HP:0000371	HP:0000371	Acute otitis media	0	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional	38
HP:0000371	HP:0000371	Acute otitis media	0	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional	26
HP:0000371	HP:0000371	Acute otitis media	0	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional	34

Genes (5) :CIITA JAK3 RFX5 RFXANK RFXAP

Diseases (2) :ORPHA:572 ORPHA:35078

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