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

..Starting node
..Muscle fiber intracytoplasmic reducing inclusion bodies (HP:0034320)

Term ID:

34320

Name:

Muscle fiber intracytoplasmic reducing inclusion bodies

Synonym:

Intracytoplasmic myofiber reducing inclusion bodies

Definition:

Intracytoplasmic inclusions in myofibers that reduce nitro-blue tetrazolium (NBT) and thus stain strongly with the menadione-NBT stain.

Comments:

Reference:

HP:0034320

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0034320	HP:0034320	Muscle fiber intracytoplasmic reducing inclusion bodies	0	FHL1 CL E G H	2273	3702	OMIM:300718	Myopathy, reducing body, X-linked, childhood-onset	68

Genes (1) :FHL1

Diseases (1) :OMIM:300718

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