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 dystrophin expression (HP:0030096)

..Starting node
..Absent muscle dystrophin expression (HP:0030097)

Term ID:

30097

Name:

Absent muscle dystrophin expression

Synonym:

Definition:

Lack of dystrophin in muscle tissue. Immunohistochemistry reveals absent dystrophin protein in the muscle biopsy.

Comments:

Reference:

HP:0030097

Genes and Diseases:

Child Nodes:

Sister Nodes:

Reduced muscle dystrophin expression (HP:0030098)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0030097	HP:0030097	Absent muscle dystrophin expression	0	DMD CL E G H	1756	2928	ORPHA:206546	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers	1496

Genes (1) :DMD

Diseases (1) :ORPHA:206546

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