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 of the upper limbs (HP:0001446)

Grandparent Node:
Skeletal muscle hypertrophy (HP:0003712)

Parent Node:
Upper limb muscle hypertrophy (HP:0040265)

..Starting node
..Proximal upper limb muscle hypertrophy (HP:0040266)

Term ID:

40266

Name:

Proximal upper limb muscle hypertrophy

Synonym:

Definition:

Comments:

Reference:

HP:0040266

Genes and Diseases:

Child Nodes:

Sister Nodes:

Distal upper limb muscle hypertrophy (HP:0040267)

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:0040266	HP:0040266	Proximal upper limb muscle hypertrophy	0	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy	HP:0040282 - Frequent	645
HP:0040266	HP:0040266	Proximal upper limb muscle hypertrophy	0	PLEC CL E G H	5339	9069	ORPHA:254361	Plectin-related limb-girdle muscular dystrophy R17	HP:0040283 - Occasional	759

Genes (2) :LMNA PLEC

Diseases (2) :ORPHA:280365 ORPHA:254361

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