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 facial soft tissue (HP:0011799)

Grandparent Node:
Abnormality of the musculature (HP:0003011)

Parent Node:
Abnormality of facial musculature (HP:0000301)

..Starting node
..Abnormality of muscle of facial expression (HP:0430019)

Term ID:

430019

Name:

Abnormality of muscle of facial expression

Synonym:

Abnormality of muscle of facial expression; Abnormality of musculature of facial expression

Definition:

An abnormality of any of the muscles of facial expression, which are innervated by the seventh (VII) cranial nerve and control facial expression.

Comments:

Reference:

HP:0430019

Genes and Diseases:

Child Nodes:

........

Abnormality of levator labii superioris alaeque nasi muscle (HP:0430020)

........

Abnormality of mentalis muscle (HP:3000007)

........

Abnormality of orbicularis oris muscle (HP:3000010)

........

Abnormality of risorius muscle (HP:3000015)

........

Abnormality of zygomaticus major muscle (HP:3000018)

........

Abnormality of zygomaticus minor muscle (HP:3000020)

........

Abnormality of depressor anguli oris muscle (HP:3000028)

........

Abnormality of depressor labii inferioris (HP:3000029)

........

Abnormality of levator anguli oris (HP:3000070)

........

Abnormality of levator labii superioris (HP:3000071)

Sister Nodes:

Abnormal platysma muscle morphology (HP:3000013)

Abnormality of jaw muscles (HP:0045037)

Abnormality of mylohyoid muscle (HP:3000008)

Abnormality of nasal musculature (HP:0430018)

Facial hypotonia (HP:0000297)

Facial muscle hypertrophy (HP:0012892)

Facial myokymia (HP:0000317)

Hypomimic face (HP:0000338)

Hypoplasia of facial musculature (HP:0004660)

Spasticity of facial muscles (HP:0002491)

Weakness of facial musculature (HP:0030319)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0430019	HP:0430019	Abnormality of muscle of facial expression	0	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy
HP:0430019	HP:0430019	Abnormality of muscle of facial expression	0	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy
HP:0430019	HP:3000020	Abnormality of zygomaticus minor muscle	1	CL E G H
HP:0430019	HP:3000018	Abnormality of zygomaticus major muscle	1	CL E G H
HP:0430019	HP:3000015	Abnormality of risorius muscle	1	CL E G H
HP:0430019	HP:3000071	Abnormality of levator labii superioris	1	CL E G H
HP:0430019	HP:3000007	Abnormality of mentalis muscle	1	CL E G H
HP:0430019	HP:3000070	Abnormality of levator anguli oris	1	CL E G H
HP:0430019	HP:0430020	Abnormality of levator labii superioris alaeque nasi muscle	1	CL E G H
HP:0430019	HP:3000029	Abnormality of depressor labii inferioris	1	CL E G H
HP:0430019	HP:3000028	Abnormality of depressor anguli oris muscle	1	CL E G H
HP:0430019	HP:3000010	Abnormality of orbicularis oris muscle	1	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040284 - Very rare
HP:0430019	HP:3000010	Abnormality of orbicularis oris muscle	1	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040284 - Very rare

Genes (2) :GIPC1 NOTCH2NLC

Diseases (1) :ORPHA:98897

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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