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:
Muscle weakness (HP:0001324)

Parent Node:
Distal muscle weakness (HP:0002460)

..Starting node
..Late-onset distal muscle weakness (HP:0003810)

Term ID:

3810

Name:

Late-onset distal muscle weakness

Synonym:

Definition:

Comments:

Reference:

HP:0003810

Genes and Diseases:

Child Nodes:

Sister Nodes:

Distal lower limb muscle weakness (HP:0009053)

Distal upper limb muscle weakness (HP:0008959)

First dorsal interossei muscle weakness (HP:0003392)

Paresis of extensor muscles of the big toe (HP:0002601)

Progressive distal muscle weakness (HP:0009063)

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:0003810	HP:0003810	Late-onset distal muscle weakness	0	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3	.	96
HP:0003810	HP:0003810	Late-onset distal muscle weakness	0	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive	.	745
HP:0003810	HP:0003810	Late-onset distal muscle weakness	0	TNPO3 CL E G H	23534	17103	OMIM:608423	Muscular dystrophy, limb-girdle, autosomal dominant 2	.	71

Genes (3) :ACTA1 NEB TNPO3

Diseases (3) :OMIM:161800 OMIM:256030 OMIM:608423

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