OBO ID: DOID:0050646 |
Term Name: | distal arthrogryposis | Search Ontology: | |
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Synonyms: |
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Definition: | A muscle tissue disease characterized by congenital joint contractures of hand and feet. http://en.wikipedia.org/wiki/Arthrogryposis | ||
References: |
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Ontology: | Human Disease (DOID:0050646) |
OTHER distal arthrogryposis PAGES
GENES INVOLVED
Human Gene | Zebrafish Ortholog | OMIM Term | OMIM Phenotype ID |
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ECEL1 | Arthrogryposis, distal, type 5D | 615065 | |
FBN2 | Contractural arachnodactyly, congenital | 121050 | |
MYBPC1 | Arthrogryposis, distal, type 1B | 614335 | |
PIEZO2 | Arthrogryposis, distal, type 5 | 108145 | |
Arthrogryposis, distal, type 3 | 114300 | ||
TNNI2 | Arthrogryposis, distal, type 2B1 | 601680 | |
TPM2 | Arthrogryposis, distal, type 1A | 108120 | |
Arthrogryposis, distal, type 2B4 | 108120 | ||
MYH3 | Arthrogryposis, distal, type 2A (Freeman-Sheldon) | 193700 | |
MYH8 | Trismus-pseudocamptodactyly syndrome | 158300 |
ZEBRAFISH MODELS
Fish | Conditions | Citations |
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WT + MO1-mybpc1 | standard conditions | Ha et al., 2013 |
WT + MO1-zbtb42 | standard conditions | Patel et al., 2014 |
WT + MO2-mybpc1 | standard conditions | Ha et al., 2013 |
PHENOTYPE
No data available
CITATIONS (4)
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