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 dysferlin (HP:0030113)

..Starting node
..Absent muscle fiber dysferlin (HP:0030114)

Term ID:

30114

Name:

Absent muscle fiber dysferlin

Synonym:

Absent muscle fibre dysferlin

Definition:

Immunohistochemistry shows complete lack of dysferlin protein in the muscle biopsy.

Comments:

Reference:

HP:0030114

Genes and Diseases:

Child Nodes:

Sister Nodes:

Reduced muscle fiber dysferlin (HP:0030115)

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:0030114	HP:0030114	Absent muscle fiber dysferlin	0	DYSF CL E G H	8291	3097	ORPHA:178400	Distal myopathy with anterior tibial onset	HP:0040281 - Very frequent	600

Genes (1) :DYSF

Diseases (1) :ORPHA:178400

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