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
..Weakness of long finger extensor muscles (HP:0009077)

Term ID:

9077

Name:

Weakness of long finger extensor muscles

Synonym:

Definition:

Comments:

Reference:

HP:0009077

Genes and Diseases:

Child Nodes:

Sister Nodes:

Finger flexor weakness (HP:0031177)

Thenar muscle weakness (HP:0003427)

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:0009077	HP:0009077	Weakness of long finger extensor muscles	0	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	127
HP:0009077	HP:0009077	Weakness of long finger extensor muscles	0	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	1
HP:0009077	HP:0009077	Weakness of long finger extensor muscles	0	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	74
HP:0009077	HP:0009077	Weakness of long finger extensor muscles	0	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	53
HP:0009077	HP:0009077	Weakness of long finger extensor muscles	0	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	88
HP:0009077	HP:0009077	Weakness of long finger extensor muscles	0	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	139
HP:0009077	HP:0009077	Weakness of long finger extensor muscles	0	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	6
HP:0009077	HP:0009077	Weakness of long finger extensor muscles	0	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	91
HP:0009077	HP:0009077	Weakness of long finger extensor muscles	0	GNE CL E G H	10020	23657	ORPHA:602	GNE myopathy	HP:0040284 - Very rare	173
HP:0009077	HP:0009077	Weakness of long finger extensor muscles	0	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia	HP:0040283 - Occasional	12
HP:0009077	HP:0009077	Weakness of long finger extensor muscles	0	LDB3 CL E G H	11155	15710	ORPHA:98912	Late-onset distal myopathy, Markesbery-Griggs type	HP:0040283 - Occasional	286
HP:0009077	HP:0009077	Weakness of long finger extensor muscles	0	LRP4 CL E G H	4038	6696	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	124
HP:0009077	HP:0009077	Weakness of long finger extensor muscles	0	MUSK CL E G H	4593	7525	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	72
HP:0009077	HP:0009077	Weakness of long finger extensor muscles	0	MYH7 CL E G H	4625	7577	OMIM:160500	Myopathy, distal, 1	.	1269
HP:0009077	HP:0009077	Weakness of long finger extensor muscles	0	NEB CL E G H	4703	7720	ORPHA:399103	Distal nebulin myopathy	HP:0040282 - Frequent	745
HP:0009077	HP:0009077	Weakness of long finger extensor muscles	0	RAPSN CL E G H	5913	9863	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	73
HP:0009077	HP:0009077	Weakness of long finger extensor muscles	0	SCN4A CL E G H	6329	10591	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	263
HP:0009077	HP:0009077	Weakness of long finger extensor muscles	0	SQSTM1 CL E G H	8878	11280	ORPHA:603	Distal myopathy, Welander type	HP:0040281 - Very frequent	62
HP:0009077	HP:0009077	Weakness of long finger extensor muscles	0	TIA1 CL E G H	7072	11802	ORPHA:603	Distal myopathy, Welander type	HP:0040281 - Very frequent	5

Genes (19) :AGRN AK9 CHRNA1 CHRNB1 CHRND CHRNE COL13A1 DOK7 GNE HINT1 LDB3 LRP4 MUSK MYH7 NEB RAPSN SCN4A SQSTM1 TIA1

Diseases (7) :ORPHA:98913 ORPHA:602 ORPHA:324442 ORPHA:98912 OMIM:160500 ORPHA:399103 ORPHA:603

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

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