Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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:
Functional abnormality of the middle ear (HP:0011452)

Grandparent Node:
Hearing impairment (HP:0000365)

Parent Node:
Conductive hearing impairment (HP:0000405)

..Starting node
..Bilateral conductive hearing impairment (HP:0008513)

Term ID:

8513

Name:

Bilateral conductive hearing impairment

Synonym:

Bilateral conductive deafness; Bilateral conductive hearing loss

Definition:

A bilateral type of conductive hearing impairment.

Comments:

Reference:

HP:0008513

Genes and Diseases:

Child Nodes:

Sister Nodes:

Congenital conductive hearing impairment (HP:0008591)

Mild conductive hearing impairment (HP:0008598)

Mixed hearing impairment (HP:0000410)

Moderate conductive hearing impairment (HP:0012716)

Progressive conductive hearing impairment (HP:0008607)

Severe conductive hearing impairment (HP:0012717)

Unilateral conductive hearing impairment (HP:0040119)

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:0008513	HP:0008513	Bilateral conductive hearing impairment	0	ANKRD11 CL E G H	29123	21316	ORPHA:2332	KBG syndrome	HP:0040282 - Frequent	102
HP:0008513	HP:0008513	Bilateral conductive hearing impairment	0	EDN1 CL E G H	1906	3176	OMIM:615706	Auriculocondylar syndrome 3	HP:0040283 - Occasional	6
HP:0008513	HP:0008513	Bilateral conductive hearing impairment	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0008513	HP:0008513	Bilateral conductive hearing impairment	0	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1		22
HP:0008513	HP:0008513	Bilateral conductive hearing impairment	0	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder	HP:0040283 - Occasional	12
HP:0008513	HP:0008513	Bilateral conductive hearing impairment	0	TNFRSF11A CL E G H	8792	11908	OMIM:602080	Paget disease of bone 2, early-onset		72
HP:0008513	HP:0008513	Bilateral conductive hearing impairment	0	VARS1 CL E G H	7407	12651	OMIM:617802	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy

Genes (7) :ANKRD11 EDN1 NFIX NOG TELO2 TNFRSF11A VARS1

Diseases (7) :ORPHA:2332 OMIM:615706 OMIM:602535 OMIM:186500 ORPHA:488642 OMIM:602080 OMIM:617802

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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