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 reflex of the tensor tympani muscle (HP:0040120)

Term ID:

40120

Name:

Abnormality of the reflex of the tensor tympani muscle

Synonym:

Definition:

Comments:

Reference:

HP:0040120

Genes and Diseases:

Child Nodes:

........

Absence of the reflex of the tensor tympani muscle (HP:0040114)

........

Impairment of the reflex of the tensor tympanii muscle (HP:0040123)

Sister Nodes:

Abnormality of the acoustic reflex (HP:0040121)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0040120	HP:0040120	Abnormality of the reflex of the tensor tympani muscle	0	CL E G H
HP:0040120	HP:0040123	Impairment of the reflex of the tensor tympani muscle	1	CL E G H
HP:0040120	HP:0040114	Absence of the reflex of the tensor tympani muscle	1	CL E G H

Genes (0) :

Diseases (0) :

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