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 muscle size (HP:0030236)

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

Parent Node:
Skeletal muscle atrophy (HP:0003202)

..Starting node
..Scapuloperoneal amyotrophy (HP:0003697)

Term ID:

3697

Name:

Scapuloperoneal amyotrophy

Synonym:

Scapuloperoneal atrophy

Definition:

Muscular atrophy in the distribution of shoulder girdle and peroneal muscles.

Comments:

Reference:

HP:0003697

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)

Peroneal muscle atrophy (HP:0009049)

Proximal amyotrophy (HP:0007126)

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:0003697	HP:0003697	Scapuloperoneal amyotrophy	0	MYH7 CL E G H	4625	7577	OMIM:608358	Myopathy, myosin storage	.	1269
HP:0003697	HP:0003697	Scapuloperoneal amyotrophy	0	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive	.	1269
HP:0003697	HP:0003697	Scapuloperoneal amyotrophy	0	PLEKHG5 CL E G H	57449	29105	OMIM:611067	Spinal muscular atrophy, distal, autosomal recessive, 4	.	186
HP:0003697	HP:0003697	Scapuloperoneal amyotrophy	0	POMT2 CL E G H	29954	19743	ORPHA:206559	POMT2-related limb-girdle muscular dystrophy R14	HP:0040283 - Occasional	221
HP:0003697	HP:0003697	Scapuloperoneal amyotrophy	0	TRPV4 CL E G H	59341	18083	OMIM:181405	Scapuloperoneal spinal muscular atrophy	.	214

Genes (4) :MYH7 PLEKHG5 POMT2 TRPV4

Diseases (5) :OMIM:608358 OMIM:255160 OMIM:611067 ORPHA:206559 OMIM:181405

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