Human Phenotype Ontology 
Grandparent Node:
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Abnormal central motor function (HP:0011442)help
Parent Node:
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Abnormality of extrapyramidal motor function (HP:0002071)help
Parent Node:
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Rigidity (HP:0002063)help
..Starting node
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Extrapyramidal muscular rigidity (HP:0007076)help
Term ID: 7076
Name: Extrapyramidal muscular rigidity
Synonym:
Definition: Muscular rigidity (continuous contraction of muscles with constant resistance to passive movement).
Comments:
Reference: HP:0007076
Genes and Diseases:
 
       Child Nodes:
........expandProgressive extrapyramidal muscular rigidity (HP:0007158) help

 Sister Nodes: 
..expandCogwheel rigidity (HP:0002396) help
..expandDecerebrate rigidity (HP:0025013) help
..expandDecorticate rigidity (HP:0011444) 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:0007076HP:0007076Extrapyramidal muscular rigidity0ADAR CL E G H103225ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent116
HP:0007076HP:0007076Extrapyramidal muscular rigidity0ATP6AP2 CL E G H1015918305ORPHA:93952X-linked intellectual disability, Hedera typeHP:0040282 - Frequent36
HP:0007076HP:0007076Extrapyramidal muscular rigidity0CLN3 CL E G H12012074ORPHA:228346CLN3 disease216
HP:0007076HP:0007076Extrapyramidal muscular rigidity0HLA-DQB1 CL E G H31194944OMIM:123400Creutzfeldt-Jakob disease.
HP:0007076HP:0007076Extrapyramidal muscular rigidity0IFIH1 CL E G H6413518873ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent28
HP:0007076HP:0007076Extrapyramidal muscular rigidity0LSM11 CL E G H13435330860ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent
HP:0007076HP:0007076Extrapyramidal muscular rigidity0MAPT CL E G H41376893ORPHA:240071Classic progressive supranuclear palsy syndrome140
HP:0007076HP:0007076Extrapyramidal muscular rigidity0MAPT CL E G H41376893ORPHA:240103Progressive supranuclear palsy-corticobasal syndrome140
HP:0007076HP:0007076Extrapyramidal muscular rigidity0MAPT CL E G H41376893ORPHA:240112Progressive supranuclear palsy-progressive non-fluent aphasia syndrome140
HP:0007076HP:0007076Extrapyramidal muscular rigidity0MICU1 CL E G H103671530ORPHA:401768Proximal myopathy with extrapyramidal signs14
HP:0007076HP:0007076Extrapyramidal muscular rigidity0OPA3 CL E G H802078142ORPHA:67036Autosomal dominant optic atrophy and cataractHP:0040283 - Occasional163
HP:0007076HP:0007076Extrapyramidal muscular rigidity0PRNP CL E G H56219449OMIM:123400Creutzfeldt-Jakob disease.69
HP:0007076HP:0007076Extrapyramidal muscular rigidity0PRNP CL E G H56219449ORPHA:282166Inherited Creutzfeldt-Jakob disease69
HP:0007076HP:0007076Extrapyramidal muscular rigidity0RNASEH2A CL E G H1053518518ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent33
HP:0007076HP:0007076Extrapyramidal muscular rigidity0RNASEH2B CL E G H7962125671ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent34
HP:0007076HP:0007076Extrapyramidal muscular rigidity0RNASEH2C CL E G H8415324116ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent60
HP:0007076HP:0007076Extrapyramidal muscular rigidity0RNU7-1 CL E G H10014774434033ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent
HP:0007076HP:0007076Extrapyramidal muscular rigidity0SAMHD1 CL E G H2593915925ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent55
HP:0007076HP:0007076Extrapyramidal muscular rigidity0TAF1 CL E G H687211535ORPHA:53351X-linked dystonia-parkinsonism21
HP:0007076HP:0007076Extrapyramidal muscular rigidity0TREX1 CL E G H1127712269ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent56
HP:0007076HP:0007158Progressive extrapyramidal muscular rigidity1MAPT CL E G H41376893ORPHA:240071Classic progressive supranuclear palsy syndromeHP:0040282 - Frequent140
HP:0007076HP:0007158Progressive extrapyramidal muscular rigidity1MAPT CL E G H41376893ORPHA:240103Progressive supranuclear palsy-corticobasal syndromeHP:0040282 - Frequent140
HP:0007076HP:0007158Progressive extrapyramidal muscular rigidity1MAPT CL E G H41376893ORPHA:240112Progressive supranuclear palsy-progressive non-fluent aphasia syndromeHP:0040283 - Occasional140
HP:0007076HP:0007158Progressive extrapyramidal muscular rigidity1MICU1 CL E G H103671530ORPHA:401768Proximal myopathy with extrapyramidal signsHP:0040282 - Frequent14
HP:0007076HP:0007158Progressive extrapyramidal muscular rigidity1PRNP CL E G H56219449ORPHA:282166Inherited Creutzfeldt-Jakob diseaseHP:0040282 - Frequent69
HP:0007076HP:0007158Progressive extrapyramidal muscular rigidity1TAF1 CL E G H687211535ORPHA:53351X-linked dystonia-parkinsonismHP:0040282 - Frequent21


Genes (17) :ADAR ATP6AP2 CLN3 HLA-DQB1 IFIH1 LSM11 MAPT MICU1 OPA3 PRNP RNASEH2A RNASEH2B RNASEH2C RNU7-1 SAMHD1 TAF1 TREX1

Diseases (11) :ORPHA:51 ORPHA:93952 ORPHA:228346 OMIM:123400 ORPHA:240071 ORPHA:240103 ORPHA:240112 ORPHA:401768 ORPHA:67036 ORPHA:282166 ORPHA:53351
 

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