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:
Abnormality of the musculature (HP:0003011)

Parent Node:
Abnormal skeletal muscle morphology (HP:0011805)

Parent Node:
obsolete Abnormality of skeletal muscles (HP:0040290)

..Starting node
..Skeletal muscle fibrosis (HP:0030951)

Term ID:

30951

Name:

Skeletal muscle fibrosis

Synonym:

Muscle biopsy: fibrosis

Definition:

Excessive formation of fibrous bands of scar tissue in between muscle fibers.

Comments:

Reference:

HP:0030951

Genes and Diseases:

Child Nodes:

Sister Nodes:

Skeletal muscle atrophy (HP:0003202)

Skeletal muscle hypertrophy (HP:0003712)

Skeletal muscle steatosis (HP:0040291)

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:0030951	HP:0030951	Skeletal muscle fibrosis	0	DNAJB6 CL E G H	10049	14888	ORPHA:34516	DNAJB6-related limb-girdle muscular dystrophy D1	HP:0040283 - Occasional	103
HP:0030951	HP:0030951	Skeletal muscle fibrosis	0	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease	HP:0040283 - Occasional	6

Genes (2) :DNAJB6 PTRH2

Diseases (2) :ORPHA:34516 ORPHA:456312

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