Human Phenotype Ontology 
Grandparent Node:
expandAbnormal central motor function (HP:0011442)help
Parent Node:
expandAbnormality of extrapyramidal motor function (HP:0002071)help
Parent Node:
expandRigidity (HP:0002063)help
..Starting node
..expandExtrapyramidal 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 entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0007076HP:0007076Extrapyramidal muscular rigidity0ADAR CL E G H10351ORPHA11122225146920
HP:0007076HP:0007076Extrapyramidal muscular rigidity0IFIH1 CL E G H6413551ORPHA1117018873606951
HP:0007076HP:0007076Extrapyramidal muscular rigidity0PRNP CL E G H5621123400Jakob-Creutzfeldt disease123400C0022336OMIM11919449176640
HP:0007076HP:0007076Extrapyramidal muscular rigidity0RNASEH2A CL E G H1053551ORPHA140418518606034
HP:0007076HP:0007076Extrapyramidal muscular rigidity0RNASEH2B CL E G H7962151ORPHA142625671610326
HP:0007076HP:0007076Extrapyramidal muscular rigidity0RNASEH2C CL E G H8415351ORPHA130724116610330
HP:0007076HP:0007076Extrapyramidal muscular rigidity0SAMHD1 CL E G H2593951ORPHA174615925606754
HP:0007076HP:0007076Extrapyramidal muscular rigidity0TREX1 CL E G H1127751ORPHA141812269606609
HP:0007076HP:0007158Progressive extrapyramidal muscular rigidity1ADAR CL E G H10351ORPHA11122225146920
HP:0007076HP:0007158Progressive extrapyramidal muscular rigidity1IFIH1 CL E G H6413551ORPHA1117018873606951
HP:0007076HP:0007158Progressive extrapyramidal muscular rigidity1PRNP CL E G H5621123400Jakob-Creutzfeldt disease123400C0022336OMIM11919449176640
HP:0007076HP:0007158Progressive extrapyramidal muscular rigidity1RNASEH2A CL E G H1053551ORPHA140418518606034
HP:0007076HP:0007158Progressive extrapyramidal muscular rigidity1RNASEH2B CL E G H7962151ORPHA142625671610326
HP:0007076HP:0007158Progressive extrapyramidal muscular rigidity1RNASEH2C CL E G H8415351ORPHA130724116610330
HP:0007076HP:0007158Progressive extrapyramidal muscular rigidity1SAMHD1 CL E G H2593951ORPHA174615925606754
HP:0007076HP:0007158Progressive extrapyramidal muscular rigidity1TREX1 CL E G H1127751ORPHA141812269606609
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0007076HP:0007076Extrapyramidal muscular rigidity0OPA3 CL E G H8020767036ORPHA05238142606580
HP:0007076HP:0007158Progressive extrapyramidal muscular rigidity1OPA3 CL E G H8020767036ORPHA05238142606580


Genes (11) :ADAR IFIH1 MICU1 OPA3 PRNP RNASEH2A RNASEH2B RNASEH2C SAMHD1 TAF1 TREX1

Diseases (6) :51 67036 123400 401768 282166 53351
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.