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:
Hearing abnormality (HP:0000364)

Parent Node:
Hearing impairment (HP:0000365)

..Starting node
..Mild hearing impairment (HP:0012712)

Term ID:

12712

Name:

Mild hearing impairment

Synonym:

Mild hearing impairment

Definition:

The presence of a mild form of hearing impairment.

Comments:

Reference:

HP:0012712

Genes and Diseases:

Child Nodes:

........

Mild neurosensory hearing impairment (HP:0008587)

........

Mild conductive hearing impairment (HP:0008598)

........

Moderate conductive hearing impairment (HP:0012716)

........

Severe conductive hearing impairment (HP:0012717)

Sister Nodes:

Aminoglycoside-induced hearing loss (HP:0011975)

Conductive hearing impairment (HP:0000405)

High-frequency hearing impairment (HP:0005101)

Low-frequency hearing loss (HP:0008542)

Mid-frequency hearing loss (HP:0012781)

Moderate hearing impairment (HP:0012713)

Profound hearing impairment (HP:0012715)

Progressive hearing impairment (HP:0001730)

Sensorineural hearing impairment (HP:0000407)

Severe hearing impairment (HP:0012714)

Transient hearing impairment (HP:0012779)

Unilateral deafness (HP:0009900)

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:0012712	HP:0012712	Mild hearing impairment	0	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome		243
HP:0012712	HP:0012712	Mild hearing impairment	0	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis		39
HP:0012712	HP:0012712	Mild hearing impairment	0	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome	HP:0040283 - Occasional	3
HP:0012712	HP:0012712	Mild hearing impairment	0	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0012712	HP:0012712	Mild hearing impairment	0	MFN2 CL E G H	9927	16877	OMIM:601152	Hereditary motor and sensory neuropathy VI		203
HP:0012712	HP:0012712	Mild hearing impairment	0	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG		15
HP:0012712	HP:0012716	Moderate conductive hearing impairment	1	CL E G H
HP:0012712	HP:0012717	Severe conductive hearing impairment	1	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome	HP:0040283 - Occasional	243
HP:0012712	HP:0008598	Mild conductive hearing impairment	1	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis		39
HP:0012712	HP:0008587	Mild neurosensory hearing impairment	1	MFN2 CL E G H	9927	16877	OMIM:601152	Hereditary motor and sensory neuropathy VI	HP:0040283 - Occasional	203
HP:0012712	HP:0008587	Mild neurosensory hearing impairment	1	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040283 - Occasional	15

Genes (6) :COL1A2 CTSK DPH1 MED12 MFN2 PGM3

Diseases (6) :ORPHA:230851 ORPHA:763 ORPHA:459061 OMIM:301068 OMIM:601152 ORPHA:443811

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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