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:
Abnormality of the hallux (HP:0001844)

Parent Node:
Distal muscle weakness (HP:0002460)

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

Term ID:

2601

Name:

Paresis of extensor muscles of the big toe

Synonym:

Definition:

Comments:

Reference:

HP:0002601

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)

Late-onset distal muscle weakness (HP:0003810)

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:0002601	HP:0002601	Paresis of extensor muscles of the big toe	0	GCH1 CL E G H	2643	4193	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040283 - Occasional	86
HP:0002601	HP:0002601	Paresis of extensor muscles of the big toe	0	HSPB1 CL E G H	3315	5246	OMIM:608634	Neuronopathy, distal hereditary motor, type IIB	.	47
HP:0002601	HP:0002601	Paresis of extensor muscles of the big toe	0	HSPB8 CL E G H	26353	30171	OMIM:158590	Neuronopathy, distal hereditary motor, type IIA	.	38
HP:0002601	HP:0002601	Paresis of extensor muscles of the big toe	0	IMPDH2 CL E G H	3615	6053	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040283 - Occasional	1
HP:0002601	HP:0002601	Paresis of extensor muscles of the big toe	0	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2	HP:0040282 - Frequent	203
HP:0002601	HP:0002601	Paresis of extensor muscles of the big toe	0	NR4A2 CL E G H	4929	7981	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040283 - Occasional	27

Genes (6) :GCH1 HSPB1 HSPB8 IMPDH2 MFN2 NR4A2

Diseases (4) :ORPHA:98808 OMIM:608634 OMIM:158590 ORPHA:99947

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