| Human Phenotype
Ontology
|
..Starting node
.. Abnormal Z disc morphology (HP:0020202)
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| Term ID: |
20202 |
| Name: |
Abnormal Z disc morphology |
| Synonym: |
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| Definition: |
Any structural anomaly of the Z disc, which is the platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached. |
| Comments: |
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| Reference: |
HP:0020202 |
| Genes and Diseases: | |
Child Nodes: |
Sister Nodes: | | Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
|---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: | | HP:0020202 | HP:0020202 | Abnormal Z disc morphology | 0 | ACTN2 CL E G H | 88 | 164 | OMIM:618654 | MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES; MYOCOZ | | | | 307 | | | | HP:0020202 | HP:0020202 | Abnormal Z disc morphology | 0 | ACTN2 CL E G H | 88 | 164 | OMIM:618655 | MYOPATHY, DISTAL, 6, ADULT-ONSET, AUTOSOMAL DOMINANT; MPD6 | | | | 307 | | | | HP:0020202 | HP:0020202 | Abnormal Z disc morphology | 0 | FXR1 CL E G H | 8087 | 4023 | OMIM:618823 | MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS; MYOPMIL | | | | | | | | HP:0020202 | HP:0020202 | Abnormal Z disc morphology | 0 | KY CL E G H | 339855 | 26576 | OMIM:617114 | MYOPATHY, MYOFIBRILLAR, 7; MFM7 | | | | 3 | | | | HP:0020202 | HP:0020202 | Abnormal Z disc morphology | 0 | LMOD2 CL E G H | 442721 | 6648 | OMIM:619897 | | | | | | | | | HP:0020202 | HP:0020202 | Abnormal Z disc morphology | 0 | SQSTM1 CL E G H | 8878 | 11280 | OMIM:617158 | MYOPATHY, DISTAL, WITH RIMMED VACUOLES; DMRV | | | | 62 | | | | HP:0020202 | HP:0020202 | Abnormal Z disc morphology | 0 | TNNT1 CL E G H | 7138 | 11948 | OMIM:605355 | NEMALINE MYOPATHY 5; NEM5 | | | | 37 | | | | HP:0020202 | HP:0020202 | Abnormal Z disc morphology | 0 | UNC45B CL E G H | 146862 | 14304 | OMIM:619178 | MYOFIBRILLAR MYOPATHY 11; MFM11 | | | | 1 | | | | HP:0020202 | HP:0020203 | Z-band streaming | 1 | ACTN2 CL E G H | 88 | 164 | OMIM:618655 | MYOPATHY, DISTAL, 6, ADULT-ONSET, AUTOSOMAL DOMINANT; MPD6 | | | | 307 | | | | HP:0020202 | HP:0020203 | Z-band streaming | 1 | FXR1 CL E G H | 8087 | 4023 | OMIM:618823 | MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS; MYOPMIL | | | | | | | | HP:0020202 | HP:0033008 | Increased Z-disc width | 1 | KY CL E G H | 339855 | 26576 | OMIM:617114 | MYOPATHY, MYOFIBRILLAR, 7; MFM7 | | | | 3 | | | | HP:0020202 | HP:0020203 | Z-band streaming | 1 | KY CL E G H | 339855 | 26576 | OMIM:617114 | MYOPATHY, MYOFIBRILLAR, 7; MFM7 | | | | 3 | | | | HP:0020202 | HP:0033008 | Increased Z-disc width | 1 | LMOD2 CL E G H | 442721 | 6648 | OMIM:619897 | | | | | | | | | HP:0020202 | HP:0020203 | Z-band streaming | 1 | SQSTM1 CL E G H | 8878 | 11280 | OMIM:617158 | MYOPATHY, DISTAL, WITH RIMMED VACUOLES; DMRV | | | | 62 | | | | HP:0020202 | HP:0020203 | Z-band streaming | 1 | TNNT1 CL E G H | 7138 | 11948 | OMIM:605355 | NEMALINE MYOPATHY 5; NEM5 | | | | 37 | | | | HP:0020202 | HP:0020203 | Z-band streaming | 1 | UNC45B CL E G H | 146862 | 14304 | OMIM:619178 | MYOFIBRILLAR MYOPATHY 11; MFM11 | | | | 1 | | |
Genes (7) :ACTN2 FXR1 KY LMOD2 SQSTM1 TNNT1 UNC45B
Diseases (8) :OMIM:618654 OMIM:618655 OMIM:618823 OMIM:617114 OMIM:619897 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.
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