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:
Abnormality of the musculature of the limbs (HP:0009127)

Parent Node:
Abnormality of the musculature of the lower limbs (HP:0001437)

..Starting node
..Abnormality of the foot musculature (HP:0001436)

Term ID:

1436

Name:

Abnormality of the foot musculature

Synonym:

Abnormal foot muscles

Definition:

An anomaly of the musculature of foot.

Comments:

Reference:

HP:0001436

Genes and Diseases:

Child Nodes:

........

Flexion limitation of toes (HP:0008116)

........

Foot dorsiflexor weakness (HP:0009027)

........

Amyotrophy of ankle musculature (HP:0009031)

........

Toe extensor amyotrophy (HP:0011916)

Sister Nodes:

Abnormality of the calf musculature (HP:0001430)

Abnormality of the musculature of the thigh (HP:0001441)

Leg muscle stiffness (HP:0008969)

Lower limb hypertonia (HP:0006895)

Muscle hypertrophy of the lower extremities (HP:0008968)

Proximal muscle weakness in lower limbs (HP:0008994)

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:0001436	HP:0001436	Abnormality of the foot musculature	0	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent	99
HP:0001436	HP:0001436	Abnormality of the foot musculature	0	BSCL2 CL E G H	26580	15832	ORPHA:100998	Autosomal dominant spastic paraplegia type 17	HP:0040282 - Frequent	105
HP:0001436	HP:0001436	Abnormality of the foot musculature	0	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent	167
HP:0001436	HP:0001436	Abnormality of the foot musculature	0	GNE CL E G H	10020	23657	ORPHA:602	GNE myopathy	HP:0040283 - Occasional	173
HP:0001436	HP:0001436	Abnormality of the foot musculature	0	HNRNPDL CL E G H	9987	5037	OMIM:609115	Limb-girdle muscular dystrophy, type 1G		5
HP:0001436	HP:0001436	Abnormality of the foot musculature	0	KLHL9 CL E G H	55958	18732	ORPHA:399081	KLHL9-related early-onset distal myopathy		3
HP:0001436	HP:0001436	Abnormality of the foot musculature	0	LMNA CL E G H	4000	6636	ORPHA:98856	Charcot-Marie-Tooth disease type 2B1		645
HP:0001436	HP:0001436	Abnormality of the foot musculature	0	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent	7
HP:0001436	HP:0001436	Abnormality of the foot musculature	0	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent	19
HP:0001436	HP:0001436	Abnormality of the foot musculature	0	MYH7 CL E G H	4625	7577	ORPHA:59135	Laing early-onset distal myopathy		1269
HP:0001436	HP:0001436	Abnormality of the foot musculature	0	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy	HP:0040283 - Occasional	1269
HP:0001436	HP:0001436	Abnormality of the foot musculature	0	MYH7 CL E G H	4625	7577	OMIM:160500	Myopathy, distal, 1		1269
HP:0001436	HP:0001436	Abnormality of the foot musculature	0	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent	1200
HP:0001436	HP:0008116	Flexion limitation of toes	1	HNRNPDL CL E G H	9987	5037	OMIM:609115	Limb-girdle muscular dystrophy, type 1G	.	5
HP:0001436	HP:0009031	Amyotrophy of ankle musculature	1	KLHL9 CL E G H	55958	18732	ORPHA:399081	KLHL9-related early-onset distal myopathy	HP:0040282 - Frequent	3
HP:0001436	HP:0011916	Toe extensor amyotrophy	1	LMNA CL E G H	4000	6636	ORPHA:98856	Charcot-Marie-Tooth disease type 2B1		645
HP:0001436	HP:0011916	Toe extensor amyotrophy	1	MYH7 CL E G H	4625	7577	ORPHA:59135	Laing early-onset distal myopathy	HP:0040281 - Very frequent	1269
HP:0001436	HP:0011916	Toe extensor amyotrophy	1	MYH7 CL E G H	4625	7577	OMIM:160500	Myopathy, distal, 1	.	1269
HP:0001436	HP:0009031	Amyotrophy of ankle musculature	1	MYH7 CL E G H	4625	7577	OMIM:160500	Myopathy, distal, 1	.	1269

Genes (11) :BIN1 BSCL2 DNM2 GNE HNRNPDL KLHL9 LMNA MTMR14 MYF6 MYH7 RYR1

Diseases (9) :ORPHA:169189 ORPHA:100998 ORPHA:602 OMIM:609115 ORPHA:399081 ORPHA:98856 ORPHA:59135 ORPHA:437572 OMIM:160500

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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