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 muscle size (HP:0030236)

Grandparent Node:
obsolete Abnormality of skeletal muscles (HP:0040290)

Parent Node:
Abnormality of the calf musculature (HP:0001430)

Parent Node:
Skeletal muscle atrophy (HP:0003202)

..Starting node
..Peroneal muscle atrophy (HP:0009049)

Term ID:

9049

Name:

Peroneal muscle atrophy

Synonym:

Peroneal atrophy

Definition:

Atrophy of the peroneous muscles, peroneus longus (also known as Fibularis longus), Peroneus brevis (also known as fibularis brevis, and Peroneus tertius (also known as fibularis tertius).

Comments:

Reference:

HP:0009049

Genes and Diseases:

Child Nodes:

Sister Nodes:

Distal amyotrophy (HP:0003693)

Generalized amyotrophy (HP:0003700)

Limb-girdle muscle atrophy (HP:0003797)

Lower limb amyotrophy (HP:0007210)

Nonprogressive muscular atrophy (HP:0008964)

Pectoralis amyotrophy (HP:0012037)

Proximal amyotrophy (HP:0007126)

Scapuloperoneal amyotrophy (HP:0003697)

Spinal muscular atrophy (HP:0007269)

Sternocleidomastoid amyotrophy (HP:0012036)

Upper limb amyotrophy (HP:0009129)

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:0009049	HP:0009049	Peroneal muscle atrophy	0	DES CL E G H	1674	2770	OMIM:181400	Scapuloperoneal syndrome, neurogenic, Kaeser type	.	263
HP:0009049	HP:0009049	Peroneal muscle atrophy	0	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia	HP:0040283 - Occasional	12
HP:0009049	HP:0009049	Peroneal muscle atrophy	0	LMNA CL E G H	4000	6636	ORPHA:98856	Charcot-Marie-Tooth disease type 2B1		645
HP:0009049	HP:0009049	Peroneal muscle atrophy	0	LMNA CL E G H	4000	6636	OMIM:181350	Emery-Dreifuss muscular dystrophy 2, autosomal dominant	.	645
HP:0009049	HP:0009049	Peroneal muscle atrophy	0	PMP22 CL E G H	5376	9118	ORPHA:90658	Charcot-Marie-Tooth disease type 1E	HP:0040282 - Frequent	79
HP:0009049	HP:0009049	Peroneal muscle atrophy	0	SACS CL E G H	26278	10519	OMIM:270550	Spastic ataxia, Charlevoix-Saguenay type		309
HP:0009049	HP:0009049	Peroneal muscle atrophy	0	TRPV4 CL E G H	59341	18083	OMIM:181405	Scapuloperoneal spinal muscular atrophy	.	214
HP:0009049	HP:0009049	Peroneal muscle atrophy	0	TTN CL E G H	7273	12403	ORPHA:609	Tibial muscular dystrophy	HP:0040282 - Frequent	7128
HP:0009049	HP:0009049	Peroneal muscle atrophy	0	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis	HP:0040283 - Occasional	130
HP:0009049	HP:0009049	Peroneal muscle atrophy	0	WASHC5 CL E G H	9897	28984	ORPHA:100989	Autosomal dominant spastic paraplegia type 8	HP:0040282 - Frequent	83

Genes (9) :DES HINT1 LMNA PMP22 SACS TRPV4 TTN VPS13A WASHC5

Diseases (10) :OMIM:181400 ORPHA:324442 ORPHA:98856 OMIM:181350 ORPHA:90658 OMIM:270550 OMIM:181405 ORPHA:609 ORPHA:2388 ORPHA:100989

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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