Human Phenotype Ontology 
Grandparent Node:
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Abnormal muscle physiology (HP:0011804)help
Parent Node:
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Abnormality of the musculature of the lower limbs (HP:0001437)help
Parent Node:
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Muscle stiffness (HP:0003552)help
..Starting node
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Leg muscle stiffness (HP:0008969)help
Term ID: 8969
Name: Leg muscle stiffness
Synonym:
Definition:
Comments:
Reference: HP:0008969
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAsymmetric limb muscle stiffness (HP:0007156) help
..expandAxial muscle stiffness (HP:0006921) help
..expandExercise-induced muscle stiffness (HP:0008967) help
..expandProximal limb muscle stiffness (HP:0007066) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0008969HP:0008969Leg muscle stiffness0ABCD1 CL E G H21561ORPHA:139399AdrenomyeloneuropathyHP:0040282 - Frequent135
HP:0008969HP:0008969Leg muscle stiffness0ANO10 CL E G H5512925519ORPHA:284289Adult-onset autosomal recessive cerebellar ataxiaHP:0040282 - Frequent64
HP:0008969HP:0008969Leg muscle stiffness0ATP13A2 CL E G H2340030213ORPHA:306674Kufor-Rakeb syndromeHP:0040282 - Frequent100
HP:0008969HP:0008969Leg muscle stiffness0ATP13A2 CL E G H2340030213OMIM:606693Kufor-Rakeb syndrome100
HP:0008969HP:0008969Leg muscle stiffness0ATP6 CL E G H45087414ORPHA:320360MT-ATP6-related mitochondrial spastic paraplegiaHP:0040283 - Occasional
HP:0008969HP:0008969Leg muscle stiffness0DARS2 CL E G H5515725538ORPHA:137898Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndromeHP:0040283 - Occasional60
HP:0008969HP:0008969Leg muscle stiffness0DNAJC6 CL E G H982915469ORPHA:391411Atypical juvenile parkinsonismHP:0040282 - Frequent6
HP:0008969HP:0008969Leg muscle stiffness0KIF1A CL E G H547888ORPHA:101010Autosomal spastic paraplegia type 30HP:0040281 - Very frequent276
HP:0008969HP:0008969Leg muscle stiffness0KIF5A CL E G H37986323ORPHA:100991Autosomal dominant spastic paraplegia type 10HP:0040282 - Frequent93
HP:0008969HP:0008969Leg muscle stiffness0LDB3 CL E G H1115515710ORPHA:98912Late-onset distal myopathy, Markesbery-Griggs typeHP:0040283 - Occasional286
HP:0008969HP:0008969Leg muscle stiffness0PI4KA CL E G H52978983OMIM:619621SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG8411
HP:0008969HP:0008969Leg muscle stiffness0PODXL CL E G H54209171ORPHA:391411Atypical juvenile parkinsonismHP:0040282 - Frequent6
HP:0008969HP:0008969Leg muscle stiffness0SPAST CL E G H668311233ORPHA:100985Autosomal dominant spastic paraplegia type 4HP:0040282 - Frequent208
HP:0008969HP:0008969Leg muscle stiffness0SYNJ1 CL E G H886711503ORPHA:391411Atypical juvenile parkinsonismHP:0040282 - Frequent9
HP:0008969HP:0008969Leg muscle stiffness0VAMP1 CL E G H684312642ORPHA:251282Autosomal dominant spastic ataxia type 1HP:0040282 - Frequent2
HP:0008969HP:0008969Leg muscle stiffness0VAMP1 CL E G H684312642OMIM:108600Spastic ataxia 1, autosomal dominant.2
HP:0008969HP:0008969Leg muscle stiffness0ZFYVE26 CL E G H2350320761ORPHA:100996Autosomal recessive spastic paraplegia type 15HP:0040282 - Frequent189


Genes (15) :ABCD1 ANO10 ATP13A2 ATP6 DARS2 DNAJC6 KIF1A KIF5A LDB3 PI4KA PODXL SPAST SYNJ1 VAMP1 ZFYVE26

Diseases (15) :ORPHA:139399 ORPHA:284289 ORPHA:306674 OMIM:606693 ORPHA:320360 ORPHA:137898 ORPHA:391411 ORPHA:101010 ORPHA:100991 ORPHA:98912 OMIM:619621 ORPHA:100985 ORPHA:251282 OMIM:108600 ORPHA:100996
 

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