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
..Prolonged brainstem auditory evoked potentials (HP:0004466)

Term ID:

4466

Name:

Prolonged brainstem auditory evoked potentials

Synonym:

Definition:

Comments:

Reference:

HP:0004466

Genes and Diseases:

Child Nodes:

Sister Nodes:

Absent brainstem auditory responses (HP:0004463)

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:0004466	HP:0004466	Prolonged brainstem auditory evoked potentials	0	GALC CL E G H	2581	4115	ORPHA:206448	Adult Krabbe disease	HP:0040283 - Occasional	160
HP:0004466	HP:0004466	Prolonged brainstem auditory evoked potentials	0	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease	HP:0040282 - Frequent	160
HP:0004466	HP:0004466	Prolonged brainstem auditory evoked potentials	0	GALC CL E G H	2581	4115	ORPHA:206443	Late-infantile/juvenile Krabbe disease	HP:0040282 - Frequent	160
HP:0004466	HP:0004466	Prolonged brainstem auditory evoked potentials	0	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease	HP:0040282 - Frequent	81
HP:0004466	HP:0004466	Prolonged brainstem auditory evoked potentials	0	SH3TC2 CL E G H	79628	29427	OMIM:601596	Charcot-Marie-Tooth disease, type 4C	.	493

Genes (3) :GALC PSAP SH3TC2

Diseases (4) :ORPHA:206448 ORPHA:206436 ORPHA:206443 OMIM:601596

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