Human Phenotype Ontology 
Grandparent Node:
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Abnormality of movement (HP:0100022)help
Parent Node:
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Dystonia (HP:0001332)help
..Starting node
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Axial dystonia (HP:0002530)help
Term ID: 2530
Name: Axial dystonia
Synonym: Truncal dystonia
Definition: A type of dystonia that affects the midline muscles, i.e., the chest, abdominal, and back muscles.
Comments:
Reference: HP:0002530
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandFocal dystonia (HP:0004373) help
..expandGeneralized dystonia (HP:0007325) help
..expandLimb dystonia (HP:0002451) help
..expandOculogyric crisis (HP:0010553) help
..expandParoxysmal dystonia (HP:0002268) help
..expandTorsion dystonia (HP:0001304) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0002530HP:0002530Axial dystonia0CACNA1B CL E G H774614860Dystonia 23614860C3538999OMIM13921389601012
HP:0002530HP:0002530Axial dystonia0CACNA1B CL E G H774614860Dystonia 23614860C3538999OMIM13511389601012
HP:0002530HP:0002530Axial dystonia0CIZ1 CL E G H25792420492ORPHA121216744611420
HP:0002530HP:0002530Axial dystonia0CIZ1 CL E G H25792420492ORPHA118116744611420
HP:0002530HP:0002530Axial dystonia0COL6A3 CL E G H1293464440ORPHA119712213120250
HP:0002530HP:0002530Axial dystonia0COL6A3 CL E G H1293464440ORPHA122332213120250
HP:0002530HP:0002530Axial dystonia0COQ2 CL E G H2723598933ORPHA113725223609825
HP:0002530HP:0002530Axial dystonia0COQ2 CL E G H27235227510ORPHA117125223609825
HP:0002530HP:0002530Axial dystonia0COQ2 CL E G H27235227510ORPHA113725223609825
HP:0002530HP:0002530Axial dystonia0COQ2 CL E G H2723598933ORPHA117125223609825
HP:0002530HP:0002530Axial dystonia0GNAL CL E G H2774329466ORPHA12284388139312
HP:0002530HP:0002530Axial dystonia0GNAL CL E G H2774329466ORPHA12394388139312
HP:0002530HP:0002530Axial dystonia0MAPT CL E G H4137601104Progressive supranuclear ophthalmoplegia601104C0038868OMIM14886893157140
HP:0002530HP:0002530Axial dystonia0MAPT CL E G H4137601104Progressive supranuclear ophthalmoplegia601104C0038868OMIM14656893157140
HP:0002530HP:0002530Axial dystonia0PPP2R2B CL E G H5521604326Spinocerebellar ataxia 12604326C1858501OMIM1369305604325
HP:0002530HP:0002530Axial dystonia0PPP2R2B CL E G H5521604326Spinocerebellar ataxia 12604326C1858501OMIM1389305604325
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (7) :CACNA1B CIZ1 COL6A3 COQ2 GNAL MAPT PPP2R2B

Diseases (8) :614860 420492 464440 98933 227510 329466 601104 604326
 

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