Human Phenotype Ontology 
..Starting node
..expandZ-band streaming (HP:0020203)help
Term ID: 20203
Name: Z-band streaming
Synonym:
Definition: Streaming or smearing of the Z band, which is then no longer confined to a narrow zone which bisects the I band. The Z disc may extend across the I band or the entire sarcomere in a zigzag manner. Focal thickening, smudging, and blurring of the Z band takes place concurrently. Myofibrillar disorganization is a frequent but not invariable accompanying change.
Comments:
Reference: HP:0020203
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0020203HP:0020203Z-band streaming0ACTN2 CL E G H88164OMIM:618655MYOPATHY, DISTAL, 6, ADULT-ONSET, AUTOSOMAL DOMINANT; MPD6307
HP:0020203HP:0020203Z-band streaming0FXR1 CL E G H80874023OMIM:618823MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS; MYOPMIL
HP:0020203HP:0020203Z-band streaming0KY CL E G H33985526576OMIM:617114MYOPATHY, MYOFIBRILLAR, 7; MFM73
HP:0020203HP:0020203Z-band streaming0SQSTM1 CL E G H887811280OMIM:617158MYOPATHY, DISTAL, WITH RIMMED VACUOLES; DMRV62
HP:0020203HP:0020203Z-band streaming0TNNT1 CL E G H713811948OMIM:605355NEMALINE MYOPATHY 5; NEM537
HP:0020203HP:0020203Z-band streaming0UNC45B CL E G H14686214304OMIM:619178MYOFIBRILLAR MYOPATHY 11; MFM111


Genes (6) :ACTN2 FXR1 KY SQSTM1 TNNT1 UNC45B

Diseases (6) :OMIM:618655 OMIM:618823 OMIM:617114 OMIM:617158 OMIM:605355 OMIM:619178
 

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