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 desmin (HP:0030224)

..Starting node
..Accumulation of muscle fiber desmin (HP:0030225)

Term ID:

30225

Name:

Accumulation of muscle fiber desmin

Synonym:

Accumulation of muscle fibre desmin; Muscle fiber desmin-reactive inclusion bodies; Muscle fibre desmin-reactive inclusion bodies

Definition:

Immunohistochemistry shows accumulation of desmin protein in the muscle biopsy.

Comments:

Reference:

HP:0030225

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0030225	HP:0030225	Accumulation of muscle fiber desmin	0	CRYAB CL E G H	1410	2389	ORPHA:399058	Alpha-B crystallin-related late-onset myopathy	HP:0040282 - Frequent	46

Genes (1) :CRYAB

Diseases (1) :ORPHA:399058

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