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| Term | C syndrome | ID (Ontology) | DOID:0111581 (Human Disease) |
| Definition | A syndrome characterized by trigonocephaly, psychomotor retardation, hypotonia, variable cardiac defects, redundant skin, and dysmorphic facial features that has_material_basis_in heterozygous mutation in the CD96 gene on chromosome 3q13.1-q13.2. | ||
| Also Known As | "Opitz C trigonocephaly" ; "Opitz trigonocephaly C syndrome" ; "Opitz trigonocephaly syndrome" (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 dominant disease__ disease | |__syndrome____________________| C syndrome |
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| Is a |
autosomal dominant disease syndrome |
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External Crossreferences & Linkouts
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GARD:5978 MESH:C537418 MIM:211750 ORDO:1308 SNOMEDCT_US_2023_03_01:715409005 UMLS_CUI:C0796095 |
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