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 merosin expression (HP:0030090)

..Starting node
..Reduced muscle fiber merosin (HP:0030092)

Term ID:

30092

Name:

Reduced muscle fiber merosin

Synonym:

Reduced muscle fibre merosin

Definition:

A reduced amount of merosin in muscle fibers. This feature is usually assessed by immunohistochemical examination of muscle biopsy tissue.

Comments:

Reference:

HP:0030092

Genes and Diseases:

Child Nodes:

Sister Nodes:

Absent muscle fiber merosin (HP:0030091)

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:0030092	HP:0030092	Reduced muscle fiber merosin	0	FKRP CL E G H	79147	17997	ORPHA:34515	FKRP-related limb-girdle muscular dystrophy R9	HP:0040283 - Occasional	157

Genes (1) :FKRP

Diseases (1) :ORPHA:34515

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