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| Term | short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 | ID (Ontology) | DOID:0112358 (Human Disease) |
| Definition | A syndrome characterized by reduced growth, thin and short long bones, distinctive facial dysmorphism, dental and skeletal abnormalities, and absence of developmental delay or intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the SCUBE3 gene on chromosome 6p21.31. | ||
| Also Known As | "SSFSC2" | ||
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| DO.org | |||
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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__ disease | |__syndrome_____________________| short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 |
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| Is a |
autosomal recessive disease syndrome |
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| MIM:619184 | |||