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:
Abnormality of the middle ear (HP:0000370)

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

..Starting node
..Abnormal middle ear reflexes (HP:0004454)

Term ID:

4454

Name:

Abnormal middle ear reflexes

Synonym:

Definition:

Comments:

Reference:

HP:0004454

Genes and Diseases:

Child Nodes:

........

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

................... HP:0040114 Absence of the reflex of the tensor tympani muscle
................... HP:0040123 Impairment of the reflex of the tensor tympanii muscle

........

Abnormality of the acoustic reflex (HP:0040121)

................... HP:0008529 Absence of acoustic reflex
................... HP:0040122 Impairment of the the acoustic reflex

Sister Nodes:

Conductive hearing impairment (HP:0000405)

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:0004454	HP:0004454	Abnormal middle ear reflexes	0	AIFM1 CL E G H	9131	8768	OMIM:300614	Deafness, X-linked 5	.	60
HP:0004454	HP:0004454	Abnormal middle ear reflexes	0	DIAPH3 CL E G H	81624	15480	OMIM:609129	Auditory neuropathy, autosomal dominant, 1		8
HP:0004454	HP:0004454	Abnormal middle ear reflexes	0	MPDU1 CL E G H	9526	7207	ORPHA:79323	MPDU1-CDG		32
HP:0004454	HP:0004454	Abnormal middle ear reflexes	0	OTOF CL E G H	9381	8515	OMIM:601071	Deafness, autosomal recessive 9		383
HP:0004454	HP:0004454	Abnormal middle ear reflexes	0	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0004454	HP:0040120	Abnormality of the reflex of the tensor tympani muscle	1	CL E G H
HP:0004454	HP:0040121	Abnormality of the acoustic reflex	1	DIAPH3 CL E G H	81624	15480	OMIM:609129	Auditory neuropathy, autosomal dominant, 1		8
HP:0004454	HP:0040121	Abnormality of the acoustic reflex	1	MPDU1 CL E G H	9526	7207	ORPHA:79323	MPDU1-CDG		32
HP:0004454	HP:0040121	Abnormality of the acoustic reflex	1	OTOF CL E G H	9381	8515	OMIM:601071	Deafness, autosomal recessive 9		383
HP:0004454	HP:0040121	Abnormality of the acoustic reflex	1	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0004454	HP:0040123	Impairment of the reflex of the tensor tympani muscle	2	CL E G H
HP:0004454	HP:0040122	Impairment of the the acoustic reflex	2	CL E G H
HP:0004454	HP:0040114	Absence of the reflex of the tensor tympani muscle	2	CL E G H
HP:0004454	HP:0008529	Absence of acoustic reflex	2	DIAPH3 CL E G H	81624	15480	OMIM:609129	Auditory neuropathy, autosomal dominant, 1	.	8
HP:0004454	HP:0008529	Absence of acoustic reflex	2	MPDU1 CL E G H	9526	7207	ORPHA:79323	MPDU1-CDG		32
HP:0004454	HP:0008529	Absence of acoustic reflex	2	OTOF CL E G H	9381	8515	OMIM:601071	Deafness, autosomal recessive 9	.	383
HP:0004454	HP:0008529	Absence of acoustic reflex	2	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54

Genes (5) :AIFM1 DIAPH3 MPDU1 OTOF PRORP

Diseases (5) :OMIM:300614 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.

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