OBO ID: DOID:0090005 |
Term Name: | Schwartz-Jampel syndrome 1 | Search Ontology: | |
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Definition: | A syndrome characterized by neuromyotonia and chondrodysplasia that has_material_basis_in hypomorphic mutations in the HSPG2 gene on chromosome 1p36. (3) | ||
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Ontology: | Human Disease ( DOID:0090005 ) |
OTHER Schwartz-Jampel syndrome 1 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS (1)
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