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 central nervous system electrophysiology (HP:0030178)

Grandparent Node:
Abnormality of peripheral nervous system electrophysiology (HP:0030177)

Parent Node:
Abnormal auditory evoked potentials (HP:0006958)

..Starting node
..Absent brainstem auditory responses (HP:0004463)

Term ID:

4463

Name:

Absent brainstem auditory responses

Synonym:

No auditory brainstem response

Definition:

Lack of measurable response to stimulation of auditory evoked potentials.

Comments:

Reference:

HP:0004463

Genes and Diseases:

Child Nodes:

Sister Nodes:

Prolonged brainstem auditory evoked potentials (HP:0004466)

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:0004463	HP:0004463	Absent brainstem auditory responses	0	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1	HP:0040281 - Very frequent	158
HP:0004463	HP:0004463	Absent brainstem auditory responses	0	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1	HP:0040281 - Very frequent	199
HP:0004463	HP:0004463	Absent brainstem auditory responses	0	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1	HP:0040281 - Very frequent	55
HP:0004463	HP:0004463	Absent brainstem auditory responses	0	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG	HP:0040283 - Occasional	37
HP:0004463	HP:0004463	Absent brainstem auditory responses	0	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F	HP:0040282 - Frequent	118
HP:0004463	HP:0004463	Absent brainstem auditory responses	0	OPA1 CL E G H	4976	8140	ORPHA:1215	Autosomal dominant optic atrophy plus syndrome	HP:0040282 - Frequent	214
HP:0004463	HP:0004463	Absent brainstem auditory responses	0	OTOF CL E G H	9381	8515	OMIM:601071	Deafness, autosomal recessive 9	.	383
HP:0004463	HP:0004463	Absent brainstem auditory responses	0	RIPOR2 CL E G H	9750	13872	OMIM:616515	Deafness, autosomal recessive 104		1
HP:0004463	HP:0004463	Absent brainstem auditory responses	0	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease	.	61
HP:0004463	HP:0004463	Absent brainstem auditory responses	0	SPTBN4 CL E G H	57731	14896	OMIM:617519	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness		3
HP:0004463	HP:0004463	Absent brainstem auditory responses	0	TIMM8A CL E G H	1678	11817	ORPHA:52368	Mohr-Tranebjaerg syndrome	HP:0040282 - Frequent	15

Genes (11) :ERCC4 ERCC6 ERCC8 MOGS NEFL OPA1 OTOF RIPOR2 SOX10 SPTBN4 TIMM8A

Diseases (9) :ORPHA:90321 ORPHA:79330 ORPHA:101085 ORPHA:1215 OMIM:601071 OMIM:616515 OMIM:609136 OMIM:617519 ORPHA:52368

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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