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 ear morphology (HP:0031703)

Parent Node:
Abnormality of the middle ear (HP:0000370)

..Starting node
..Glue ear (HP:0040262)

Term ID:

40262

Name:

Glue ear

Synonym:

Definition:

Middle ear is filled with glue-like fluid instead of air.

Comments:

Reference:

HP:0040262

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal Eustachian tube morphology (HP:0040115)

Abnormality of the round window (HP:0040099)

Abnormality of the tympanic membrane (HP:0040090)

Abnormality of the vestibular window (HP:0040100)

Functional abnormality of the middle ear (HP:0011452)

Morphological abnormality of the middle ear (HP:0008609)

Neoplasm of the middle ear (HP:0100799)

Otitis media (HP:0000388)

Recurrent infections of the middle ear (HP:0040268)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0040262	HP:0040262	Glue ear	0	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0040262	HP:0040262	Glue ear	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome	9

Genes (2) :H4C3 SIN3A

Diseases (2) :OMIM:619758 OMIM:613406

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