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:
Muscle fiber inclusion bodies (HP:0100299)

Parent Node:
Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)

..Starting node
..Muscle fiber hyaline bodies (HP:0100306)

Term ID:

100306

Name:

Muscle fiber hyaline bodies

Synonym:

Muscle fibre hyaline bodies

Definition:

Comments:

Reference:

HP:0100306

Genes and Diseases:

Child Nodes:

Sister Nodes:

Desmin bodies (HP:0100300)

Muscle fiber tubular inclusions (HP:0100301)

Muscle fiber tubuloreticular inclusions (HP:0100302)

Nemaline bodies (HP:0003798)

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:0100306	HP:0100306	Muscle fiber hyaline bodies	0	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive	1269

Genes (1) :MYH7

Diseases (1) :OMIM:255160

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