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 the lower limb (HP:0002814)

Grandparent Node:
Distal muscle weakness (HP:0002460)

Grandparent Node:
Lower limb muscle weakness (HP:0007340)

Parent Node:
Distal lower limb muscle weakness (HP:0009053)

..Starting node
..Peroneal muscle weakness (HP:0011727)

Term ID:

11727

Name:

Peroneal muscle weakness

Synonym:

Fibularis muscle weakness

Definition:

Weakness of the peroneal muscles.

Comments:

Reference:

HP:0011727

Genes and Diseases:

Child Nodes:

Sister Nodes:

Tibialis muscle weakness (HP:0008963)

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:0011727	HP:0011727	Peroneal muscle weakness	0	GDAP1 CL E G H	54332	15968	ORPHA:101097	Autosomal recessive Charcot-Marie-Tooth disease with hoarseness		108
HP:0011727	HP:0011727	Peroneal muscle weakness	0	GYG1 CL E G H	2992	4699	OMIM:616199	Polyglucosan body myopathy 2		18
HP:0011727	HP:0011727	Peroneal muscle weakness	0	LMNA CL E G H	4000	6636	OMIM:181350	Emery-Dreifuss muscular dystrophy 2, autosomal dominant	.	645
HP:0011727	HP:0011727	Peroneal muscle weakness	0	PMP22 CL E G H	5376	9118	ORPHA:90658	Charcot-Marie-Tooth disease type 1E	HP:0040282 - Frequent	79
HP:0011727	HP:0011727	Peroneal muscle weakness	0	SARDH CL E G H	1757	10536	ORPHA:3129	Sarcosinemia	HP:0040283 - Occasional	4
HP:0011727	HP:0011727	Peroneal muscle weakness	0	TRPV4 CL E G H	59341	18083	OMIM:181405	Scapuloperoneal spinal muscular atrophy	.	214

Genes (6) :GDAP1 GYG1 LMNA PMP22 SARDH TRPV4

Diseases (6) :ORPHA:101097 OMIM:616199 OMIM:181350 ORPHA:90658 ORPHA:3129 OMIM:181405

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