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
..Absent muscle fiber merosin (HP:0030091)

Term ID:

30091

Name:

Absent muscle fiber merosin

Synonym:

Absent merosin staining in muscle biopsy; Absent muscle fiber laminin alpha 2; Absent muscle fibre laminin alpha 2; Absent muscle fibre merosin

Definition:

Lack of merosin protein in the muscle biopsy.

Comments:

Reference:

HP:0030091

Genes and Diseases:

Child Nodes:

Sister Nodes:

Reduced muscle fiber merosin (HP:0030092)

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:0030091	HP:0030091	Absent muscle fiber merosin	0	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy	HP:0040281 - Very frequent	411

Genes (1) :LAMA2

Diseases (1) :ORPHA:258

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