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 morphology (HP:0004303)

Parent Node:
Abnormal muscle fiber protein expression (HP:0030089)

..Starting node
..Abnormal muscle fiber merosin expression (HP:0030090)

Term ID:

30090

Name:

Abnormal muscle fiber merosin expression

Synonym:

Abnormal muscle fibre merosin expression

Definition:

An anomalous amount of merosin in muscle fibers. Merosin is a basement membrane-associated protein found in placenta, striated muscle, and peripheral nerve.

Comments:

Reference:

HP:0030090

Genes and Diseases:

Child Nodes:

........

Absent muscle fiber merosin (HP:0030091)

........

Reduced muscle fiber merosin (HP:0030092)

Sister Nodes:

Abnormal muscle fiber alpha dystroglycan (HP:0030112)

Abnormal muscle fiber alpha sarcoglycan (HP:0030100)

Abnormal muscle fiber beta sarcoglycan (HP:0030103)

Abnormal muscle fiber calpain-3 (HP:0030119)

Abnormal muscle fiber delta sarcoglycan (HP:0030105)

Abnormal muscle fiber desmin (HP:0030224)

Abnormal muscle fiber dysferlin (HP:0030113)

Abnormal muscle fiber dystrophin expression (HP:0030096)

Abnormal muscle fiber emerin (HP:0030116)

Abnormal muscle fiber gamma sarcoglycan (HP:0030104)

Abnormal muscle fiber lamin A/C (HP:0030123)

Abnormal muscle fiber laminin beta 1 (HP:0030093)

Abnormal muscle fiber myotilin (HP:0030226)

Abnormal muscle fiber valosin-containing protein (HP:0030228)

Reduced muscle collagen VI (HP:0030095)

Reduced muscle fiber perlecan (HP:0030122)

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:0030090	HP:0030090	Abnormal muscle fiber merosin expression	0	FKRP CL E G H	79147	17997	ORPHA:34515	FKRP-related limb-girdle muscular dystrophy R9		157
HP:0030090	HP:0030090	Abnormal muscle fiber merosin expression	0	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy		411
HP:0030090	HP:0030092	Reduced muscle fiber merosin	1	FKRP CL E G H	79147	17997	ORPHA:34515	FKRP-related limb-girdle muscular dystrophy R9	HP:0040283 - Occasional	157
HP:0030090	HP:0030091	Absent muscle fiber merosin	1	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy	HP:0040281 - Very frequent	411

Genes (2) :FKRP LAMA2

Diseases (2) :ORPHA:34515 ORPHA:258

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

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