Human Phenotype Ontology 
Grandparent Node:
expand
Abnormal nervous system physiology (HP:0012638)help
Parent Node:
expand
Abnormality of movement (HP:0100022)help
..Starting node
..expand
Abnormal posturing (HP:0002533)help
Term ID: 2533
Name: Abnormal posturing
Synonym:
Definition: Involuntary flexion or extension of the arms and legs.
Comments:
Reference: HP:0002533
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal head movements (HP:0002457) help
..expandAbnormal reflex (HP:0031826) help
..expandAstasia (HP:0020037) help
..expandAsterixis (HP:0012164) help
..expandBimanual synkinesia (HP:0001335) help
..expandCerebral palsy (HP:0100021) help
..expandDiminished movement (HP:0002374) help
..expandDyskinesia (HP:0100660) help
..expandDystonia (HP:0001332) help
..expandFrontal release signs (HP:0000743) help
..expandGait disturbance (HP:0001288) help
..expandHyperactivity (HP:0000752) help
..expandHyperkinetic movements (HP:0002487) help
..expandInvoluntary movements (HP:0004305) help
..expandMuscle fibrillation (HP:0010546) help
..expandMyokymia (HP:0002411) help
..expandPostural instability (HP:0002172) help
..expandPrimitive reflex (HP:0002476) help
..expandStooped posture (HP:0025403) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0002533HP:0002533Abnormal posturing0ABCD4 CL E G H5826614857METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE614857C3553915OMIM128568603214
HP:0002533HP:0002533Abnormal posturing0ABCD4 CL E G H5826614857METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE614857C3553915OMIM125968603214
HP:0002533HP:0002533Abnormal posturing0EPG5 CL E G H57724242840Vici syndrome242840C1855772OMIM1103329331615068
HP:0002533HP:0002533Abnormal posturing0EPG5 CL E G H57724242840Vici syndrome242840C1855772OMIM180129331615068
HP:0002533HP:0002533Abnormal posturing0PANK2 CL E G H80025216866ORPHA133115894606157
HP:0002533HP:0002533Abnormal posturing0PANK2 CL E G H80025216866ORPHA126315894606157
HP:0002533HP:0002533Abnormal posturing0TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM121111817300356
HP:0002533HP:0002533Abnormal posturing0TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM120111817300356
HP:0002533HP:0002533Abnormal posturing0TOR1A CL E G H1861128100Dystonia 1128100C1851945OMIM11613098605204
HP:0002533HP:0002533Abnormal posturing0TOR1A CL E G H1861128100Dystonia 1128100C1851945OMIM11563098605204
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002533HP:0002533Abnormal posturing0PRNP CL E G H5621157941ORPHA01469449176640
HP:0002533HP:0002533Abnormal posturing0PRNP CL E G H5621157941ORPHA01319449176640


Genes (6) :ABCD4 EPG5 PANK2 PRNP TIMM8A TOR1A

Diseases (6) :614857 242840 216866 157941 304700 128100
 

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