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| Term | spondylometaepiphyseal dysplasia, short limb-hand type | ID (Ontology) | DOID:0112196 (Human Disease) |
| Definition | A spondyloepimetaphyseal dysplasia characterized by short stature, short limbs and hands, and typical radiological features which include platyspondyly, metaphyseal, and epiphyseal involvement, short tubular bones of the limbs, and abnormal calcification of cartilage that has_material_basis_in homozygous or compound heterozygous mutation in the DDR2 gene on chromosome 1q23.3. | ||
| Also Known As | "SMED short limb-abnormal calcification type" ; "SMED short limb-hand type" ; "SMED type 2" (for all, see Synonyms field below) | ||
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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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autosomal genetic disease |__autosomal recessive disease_______ spinal disease | |__spondyloepimetaphyseal dysplasia__| osteochondrodysplasia | |__spondyloepimetaphyseal dysplasia__| spondylometaepiphyseal dysplasia, short limb-hand type 2 rec. |
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| Is a |
autosomal recessive disease spondyloepimetaphyseal dysplasia |
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External Crossreferences & Linkouts
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GARD:10616 MESH:C564794 MIM:271665 ORDO:93358 UMLS_CUI:C1849011 |
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