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| Term | omodysplasia 2 | ID (Ontology) | DOID:0080845 (Human Disease) |
| Definition | An omodysplasia that is characterized by shortened humeri, dislocated radial heads, shortened first metacarpals, craniofacial dysmorphism, and variable genitourinary anomalies and that has_material_basis_in heterozygous mutation in the FZD2 gene on chromosome 17q21. | ||
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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 dominant disease__ osteochondrodysplasia | |__omodysplasia________________| omodysplasia 2 1 rec. |
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Relationships
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| Is a |
autosomal dominant disease omodysplasia |
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External Crossreferences & Linkouts
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MESH:C567664 MIM:164745 SNOMEDCT_US_2023_03_01:725165009 UMLS_CUI:C2750355 |
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