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 hand (HP:0001421)

Parent Node:
Hand muscle weakness (HP:0030237)

..Starting node
..Thenar muscle weakness (HP:0003427)

Term ID:

3427

Name:

Thenar muscle weakness

Synonym:

Definition:

Comments:

Reference:

HP:0003427

Genes and Diseases:

Child Nodes:

Sister Nodes:

Finger flexor weakness (HP:0031177)

Weakness of long finger extensor muscles (HP:0009077)

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:0003427	HP:0003427	Thenar muscle weakness	0	BSCL2 CL E G H	26580	15832	ORPHA:139536	Distal hereditary motor neuropathy type 5	HP:0040282 - Frequent	105
HP:0003427	HP:0003427	Thenar muscle weakness	0	BSCL2 CL E G H	26580	15832	OMIM:270685	Spastic paraplegia 17	.	105
HP:0003427	HP:0003427	Thenar muscle weakness	0	FLNC CL E G H	2318	3756	OMIM:614065	Myopathy, distal, 4		197
HP:0003427	HP:0003427	Thenar muscle weakness	0	GARS1 CL E G H	2617	4162	OMIM:601472	Charcot-Marie-Tooth disease, axonal, type 2D	.
HP:0003427	HP:0003427	Thenar muscle weakness	0	GARS1 CL E G H	2617	4162	ORPHA:139536	Distal hereditary motor neuropathy type 5	HP:0040282 - Frequent
HP:0003427	HP:0003427	Thenar muscle weakness	0	GARS1 CL E G H	2617	4162	OMIM:600794	Neuronopathy, distal hereditary motor, type VA	.
HP:0003427	HP:0003427	Thenar muscle weakness	0	REEP1 CL E G H	65055	25786	ORPHA:139536	Distal hereditary motor neuropathy type 5	HP:0040282 - Frequent	87

Genes (4) :BSCL2 FLNC GARS1 REEP1

Diseases (5) :ORPHA:139536 OMIM:270685 OMIM:614065 OMIM:601472 OMIM:600794

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