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
..Abnormal Eustachian tube morphology (HP:0040115)

Term ID:

40115

Name:

Abnormal Eustachian tube morphology

Synonym:

Abnormality of the Eustachian tube

Definition:

A structural anomaly of the Eustachian tube (ET). The ET is a biomechanical valve between the nasopharynx and the middle ear. Physiologically, it controls the passive adaptation of the middle ear air pressure to the ambient air pressure primarily via direct muscular actions of the soft palate. In the closed state it protects the middle ear. Inadequate function of the ET causes middle ear ventilation disorders.

Comments:

Reference:

HP:0040115

Genes and Diseases:

Child Nodes:

........

Aplasia of the Eustachian tube (HP:0040116)

........

Atresia of the Eustachian tube (HP:0040117)

........

Stenosis of the Eustachian tube (HP:0040118)

........

Patent tuba eustachii (HP:0040124)

........

Blocked Eustachian tube (HP:0040269)

Sister Nodes:

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)

Glue ear (HP:0040262)

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	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0040115	HP:0040115	Abnormal Eustachian tube morphology	0	IRF6 CL E G H	3664	6121	ORPHA:199302	Isolated cleft lip	HP:0040283 - Occasional	99
HP:0040115	HP:0040115	Abnormal Eustachian tube morphology	0	MSX1 CL E G H	4487	7391	ORPHA:199302	Isolated cleft lip	HP:0040283 - Occasional	12
HP:0040115	HP:0040115	Abnormal Eustachian tube morphology	0	NECTIN1 CL E G H	5818	9706	ORPHA:199302	Isolated cleft lip	HP:0040283 - Occasional	4
HP:0040115	HP:0040115	Abnormal Eustachian tube morphology	0	TP63 CL E G H	8626	15979	ORPHA:199302	Isolated cleft lip	HP:0040283 - Occasional	140
HP:0040115	HP:0040115	Abnormal Eustachian tube morphology	0	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome	HP:0040283 - Occasional	8
HP:0040115	HP:0040269	Blocked Eustachian tube	1	CL E G H
HP:0040115	HP:0040118	Stenosis of the Eustachian tube	1	CL E G H
HP:0040115	HP:0040117	Atresia of the Eustachian tube	1	CL E G H
HP:0040115	HP:0040116	Aplasia of the Eustachian tube	1	CL E G H

Genes (5) :IRF6 MSX1 NECTIN1 TP63 WDR26

Diseases (2) :ORPHA:199302 ORPHA:513456

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

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