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 lower limbs (HP:0001437)

Parent Node:
Abnormality of the foot musculature (HP:0001436)

..Starting node
..Amyotrophy of ankle musculature (HP:0009031)

Term ID:

9031

Name:

Amyotrophy of ankle musculature

Synonym:

Definition:

Atrophy of the muscles of the ankle.

Comments:

Reference:

HP:0009031

Genes and Diseases:

Child Nodes:

Sister Nodes:

Flexion limitation of toes (HP:0008116)

Foot dorsiflexor weakness (HP:0009027)

Toe extensor amyotrophy (HP:0011916)

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:0009031	HP:0009031	Amyotrophy of ankle musculature	0	KLHL9 CL E G H	55958	18732	ORPHA:399081	KLHL9-related early-onset distal myopathy	HP:0040282 - Frequent	3
HP:0009031	HP:0009031	Amyotrophy of ankle musculature	0	MYH7 CL E G H	4625	7577	OMIM:160500	Myopathy, distal, 1	.	1269

Genes (2) :KLHL9 MYH7

Diseases (2) :ORPHA:399081 OMIM:160500

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