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 musculature of the upper limbs (HP:0001446)

Parent Node:
Abnormality of the shoulder girdle musculature (HP:0001435)

..Starting node
..Amyotrophy involving the shoulder musculature (HP:0001465)

Term ID:

1465

Name:

Amyotrophy involving the shoulder musculature

Synonym:

Shoulder muscle degeneration; Wasting of shoulder muscles

Definition:

Comments:

Reference:

HP:0001465

Genes and Diseases:

Child Nodes:

........

Scapuloperoneal myopathy (HP:0009054)

........

Scapular muscle atrophy (HP:0009060)

Sister Nodes:

Aplasia/Hypoplasia involving the shoulder musculature (HP:0001464)

Pectoral muscle hypoplasia/aplasia (HP:0005258)

Scapular winging (HP:0003691)

Shoulder girdle muscle weakness (HP:0003547)

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:0001465	HP:0001465	Amyotrophy involving the shoulder musculature	0	CAPN3 CL E G H	825	1480	ORPHA:267	Calpain-3-related limb-girdle muscular dystrophy R1		323
HP:0001465	HP:0001465	Amyotrophy involving the shoulder musculature	0	FHL1 CL E G H	2273	3702	OMIM:300695	Scapuloperoneal myopathy, X-linked dominant		68
HP:0001465	HP:0001465	Amyotrophy involving the shoulder musculature	0	MYH7 CL E G H	4625	7577	OMIM:181430	Scapuloperoneal myopathy, myh7-related		1269
HP:0001465	HP:0001465	Amyotrophy involving the shoulder musculature	0	TRPV4 CL E G H	59341	18083	OMIM:181405	Scapuloperoneal spinal muscular atrophy		214
HP:0001465	HP:0009060	Scapular muscle atrophy	1	CAPN3 CL E G H	825	1480	ORPHA:267	Calpain-3-related limb-girdle muscular dystrophy R1	HP:0040282 - Frequent	323
HP:0001465	HP:0009054	Scapuloperoneal myopathy	1	FHL1 CL E G H	2273	3702	OMIM:300695	Scapuloperoneal myopathy, X-linked dominant	.	68
HP:0001465	HP:0009054	Scapuloperoneal myopathy	1	MYH7 CL E G H	4625	7577	OMIM:181430	Scapuloperoneal myopathy, myh7-related	.	1269
HP:0001465	HP:0009060	Scapular muscle atrophy	1	TRPV4 CL E G H	59341	18083	OMIM:181405	Scapuloperoneal spinal muscular atrophy	.	214

Genes (4) :CAPN3 FHL1 MYH7 TRPV4

Diseases (4) :ORPHA:267 OMIM:300695 OMIM:181430 OMIM:181405

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