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| General Information | |||
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| Term | Leri-Weill dyschondrosteosis | ID (Ontology) | DOID:0060847 (Human Disease) |
| Definition | An osteochondrodysplasia characterized by abnormal shortening of the forearms and lower legs, abnormal misalignment of the wrist (Madelung deformity of the wrist), and associated short stature and has_material_basis_in heterozygous defects in the pseudoautosomal genes SHOX or SHOXY or by deletion of the SHOX downstream regulatory domain. | ||
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| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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No relevant statements available
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bone development disease__ cartilage disease_________| osteochondrodysplasia |__Leri-Weill dyschondrosteosis |
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Relationships
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| Is a | osteochondrodysplasia | ||
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Synonyms & Secondary IDs
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External Crossreferences & Linkouts
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GARD:3224 MESH:C537119 MIM:127300 NCI:C126560 ORDO:240 SNOMEDCT_US_2023_03_01:17818006 UMLS_CUI:C0265309 |
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