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:
Abnormal muscle fiber protein expression (HP:0030089)

Parent Node:
Abnormal muscle fiber calpain-3 (HP:0030119)

..Starting node
..Absent muscle fiber calpain-3 (HP:0030120)

Term ID:

30120

Name:

Absent muscle fiber calpain-3

Synonym:

Absent muscle fibre calpain-3

Definition:

Western blot shows complete lack of calpain-3 protein in the muscle biopsy tissue.

Comments:

Reference:

HP:0030120

Genes and Diseases:

Child Nodes:

Sister Nodes:

Reduced muscle fiber calpain-3 (HP:0030121)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0030120	HP:0030120	Absent muscle fiber calpain-3	0	CL E G H

Genes (0) :

Diseases (0) :

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