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:
Aplasia/Hypoplasia involving the skeletal musculature (HP:0001460)

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

Parent Node:
Hypoplasia of the musculature (HP:0009004)

..Starting node
..Calf muscle hypoplasia (HP:0008962)

Term ID:

8962

Name:

Calf muscle hypoplasia

Synonym:

Hypoplastic calf muscles; Underdeveloped calf muscles

Definition:

Underdevelopment of the muscuklature of the calf.

Comments:

Reference:

HP:0008962

Genes and Diseases:

Child Nodes:

Sister Nodes:

Neck muscle hypoplasia (HP:0008984)

Pectoralis hypoplasia (HP:0008998)

Shoulder muscle hypoplasia (HP:0008952)

Upper limb muscle hypoplasia (HP:0009016)

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:0008962	HP:0008962	Calf muscle hypoplasia	0	CAV3 CL E G H	859	1529	ORPHA:488650	Distal myopathy, Tateyama type	HP:0040283 - Occasional	148
HP:0008962	HP:0008962	Calf muscle hypoplasia	0	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital	.	655
HP:0008962	HP:0008962	Calf muscle hypoplasia	0	PMP22 CL E G H	5376	9118	ORPHA:90658	Charcot-Marie-Tooth disease type 1E	HP:0040282 - Frequent	79

Genes (3) :CAV3 FBN2 PMP22

Diseases (3) :ORPHA:488650 OMIM:121050 ORPHA:90658

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