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:
Myopathy (HP:0003198)

Parent Node:
Minicore myopathy (HP:0003789)

..Starting node
..Type 1 and type 2 muscle fiber minicore regions (HP:0003787)

Term ID:

3787

Name:

Type 1 and type 2 muscle fiber minicore regions

Synonym:

Type 1 and type 2 muscle fibre minicore regions

Definition:

Multiple small zones of sarcomeric disorganization and lack of oxidative activity (known as minicores) in type 1 and type 2 muscle fibers.

Comments:

Reference:

HP:0003787

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:0003787	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	0	RYR1 CL E G H	6261	10483	OMIM:255320	Minicore myopathy with external ophthalmoplegia	.	1200
HP:0003787	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	0	SELENON CL E G H	57190	15999	OMIM:602771	Rigid spine muscular dystrophy 1	.	144

Genes (2) :RYR1 SELENON

Diseases (2) :OMIM:255320 OMIM:602771

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