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

Parent Node:
Abnormal middle ear reflexes (HP:0004454)

..Starting node
..Abnormality of the acoustic reflex (HP:0040121)

Term ID:

40121

Name:

Abnormality of the acoustic reflex

Synonym:

Abnormal auditory reflex; Abnormal middle-ear-muscles (MEM) reflex; Abnormality of stapedial reflex

Definition:

An abnormality in the reflexive contraction of the middle-ear muscles in response to sound stimulation.

Comments:

Reference:

HP:0040121

Genes and Diseases:

Child Nodes:

........

Absence of acoustic reflex (HP:0008529)

........

Impairment of the the acoustic reflex (HP:0040122)

Sister Nodes:

Abnormality of the reflex of the tensor tympani muscle (HP:0040120)

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:0040121	HP:0040121	Abnormality of the acoustic reflex	0	DIAPH3 CL E G H	81624	15480	OMIM:609129	Auditory neuropathy, autosomal dominant, 1		8
HP:0040121	HP:0040121	Abnormality of the acoustic reflex	0	MPDU1 CL E G H	9526	7207	ORPHA:79323	MPDU1-CDG		32
HP:0040121	HP:0040121	Abnormality of the acoustic reflex	0	OTOF CL E G H	9381	8515	OMIM:601071	Deafness, autosomal recessive 9		383
HP:0040121	HP:0040121	Abnormality of the acoustic reflex	0	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0040121	HP:0040122	Impairment of the the acoustic reflex	1	CL E G H
HP:0040121	HP:0008529	Absence of acoustic reflex	1	DIAPH3 CL E G H	81624	15480	OMIM:609129	Auditory neuropathy, autosomal dominant, 1	.	8
HP:0040121	HP:0008529	Absence of acoustic reflex	1	MPDU1 CL E G H	9526	7207	ORPHA:79323	MPDU1-CDG		32
HP:0040121	HP:0008529	Absence of acoustic reflex	1	OTOF CL E G H	9381	8515	OMIM:601071	Deafness, autosomal recessive 9	.	383
HP:0040121	HP:0008529	Absence of acoustic reflex	1	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54

Genes (4) :DIAPH3 MPDU1 OTOF PRORP

Diseases (4) :OMIM:609129 ORPHA:79323 OMIM:601071 OMIM:619737

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