Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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 lower limb (HP:0002814)

Grandparent Node:
Distal muscle weakness (HP:0002460)

Grandparent Node:
Lower limb muscle weakness (HP:0007340)

Parent Node:
Distal lower limb muscle weakness (HP:0009053)

..Starting node
..Tibialis muscle weakness (HP:0008963)

Term ID:

8963

Name:

Tibialis muscle weakness

Synonym:

Definition:

Muscle weakness affecting the tibialis anterior muscle.

Comments:

Reference:

HP:0008963

Genes and Diseases:

Child Nodes:

Sister Nodes:

Peroneal muscle weakness (HP:0011727)

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:0008963	HP:0008963	Tibialis muscle weakness	0	DYSF CL E G H	8291	3097	ORPHA:178400	Distal myopathy with anterior tibial onset	HP:0040282 - Frequent	600
HP:0008963	HP:0008963	Tibialis muscle weakness	0	DYSF CL E G H	8291	3097	ORPHA:45448	Miyoshi myopathy	HP:0040282 - Frequent	600
HP:0008963	HP:0008963	Tibialis muscle weakness	0	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040283 - Occasional
HP:0008963	HP:0008963	Tibialis muscle weakness	0	GNE CL E G H	10020	23657	ORPHA:602	GNE myopathy	HP:0040281 - Very frequent	173
HP:0008963	HP:0008963	Tibialis muscle weakness	0	MTRFR CL E G H	91574	26784	ORPHA:320375	Autosomal recessive spastic paraplegia type 55	HP:0040282 - Frequent
HP:0008963	HP:0008963	Tibialis muscle weakness	0	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy	HP:0040281 - Very frequent	1269
HP:0008963	HP:0008963	Tibialis muscle weakness	0	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040283 - Occasional
HP:0008963	HP:0008963	Tibialis muscle weakness	0	TTN CL E G H	7273	12403	ORPHA:178464	Hereditary myopathy with early respiratory failure	HP:0040283 - Occasional	7128

Genes (7) :DYSF GIPC1 GNE MTRFR MYH7 NOTCH2NLC TTN

Diseases (7) :ORPHA:178400 ORPHA:45448 ORPHA:98897 ORPHA:602 ORPHA:320375 ORPHA:437572 ORPHA:178464

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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