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| Term | Schinzel Giedion syndrome | ID (Ontology) | DOID:0070509 (Human Disease) |
| Definition | An ectodermal dysplasia characterized by distinctive facial features, hydronephrosis, severe developmental delay, typical skeletal malformations, genital and cardiac anomalies, and increased tumor prevalence that has_material_basis_in heterozygous mutation in the SETBP1 gene on chromosome 18q12.3. | ||
| Also Known As | "Schinzel-Giedion midface retraction syndrome" ; "SGS" | ||
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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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autosomal genetic disease |__autosomal dominant disease__ syndrome | |__ectodermal dysplasia________| Schinzel Giedion syndrome |
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| Is a |
autosomal dominant disease ectodermal dysplasia |
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External Crossreferences & Linkouts
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GARD:117 MESH:C536632 MIM:269150 NCI:C129308 ORDO:798 SNOMEDCT_US_2023_03_01:18899000 UMLS_CUI:C0265227 |
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