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 muscle size (HP:0030236)

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

Parent Node:
Skeletal muscle hypertrophy (HP:0003712)

..Starting node
..Generalized muscle hypertrophy (HP:0003720)

Term ID:

3720

Name:

Generalized muscle hypertrophy

Synonym:

Generalised increase in muscle cell size; Generalised muscle hypertrophy; Generalized increase in muscle cell size

Definition:

Hypertrophy (increase in size) of muscle tissue in a generalized (not localized) distribution.

Comments:

Reference:

HP:0003720

Genes and Diseases:

Child Nodes:

Sister Nodes:

Facial muscle hypertrophy (HP:0012892)

Macroglossia (HP:0000158)

Muscle hypertrophy of the lower extremities (HP:0008968)

Neck muscle hypertrophy (HP:0012893)

obsolete Marked muscular hypertrophy (HP:0009042)

Paraspinal muscle hypertrophy (HP:0012894)

Scapular muscle hypertrophy (HP:0012895)

Upper limb muscle hypertrophy (HP:0040265)

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:0003720	HP:0003720	Generalized muscle hypertrophy	0	SCN4A CL E G H	6329	10591	ORPHA:99735	Myotonia permanens	HP:0040283 - Occasional	263
HP:0003720	HP:0003720	Generalized muscle hypertrophy	0	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome	.	504
HP:0003720	HP:0003720	Generalized muscle hypertrophy	0	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome	.	362

Genes (3) :SCN4A SMAD4 ZEB2

Diseases (3) :ORPHA:99735 OMIM:139210 OMIM:235730

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