OBO ID: DOID:0111167 |
Term Name: | Dyggve-Melchior-Clausen disease | Search Ontology: | |
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Definition: | A spondyloepimetaphyseal dysplasia characterized by clawed fingers, platyspondyly of the spine, abnormalities of the iliac crest, intellectual disability and mucopolysaccharide in the urine that has_material_basis_in homozygous or compound heterozygous mutation in the DYM gene on chromosome 18q21. (2) | ||
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Ontology: | Human Disease ( DOID:0111167 ) |
OTHER Dyggve-Melchior-Clausen disease PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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