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| Term | craniofrontonasal syndrome | ID (Ontology) | DOID:14737 (Human Disease) |
| Definition | A syndrome that has_material_basis_in mutation in the EFNB1 gene on chromosome Xq13 and is characterized in hemizygous males by hypertelorism and with greater severity in females by frontonasal dysplasia, craniofacial asymmetry, craniosynostosis, bifid nasal tip, grooved nails, wiry hair, and abnormalities of the thoracic skeleton. | ||
| Also Known As | "CFND" ; "CFNS" ; "craniofrontonasal dysostosis" (for all, see Synonyms field below) | ||
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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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X-linked monogenic disease |__X-linked dominant disease__ disease | |__syndrome___________________| craniofrontonasal syndrome 1 rec. |
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| Is a |
X-linked dominant disease syndrome |
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External Crossreferences & Linkouts
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GARD:1578 MESH:C536456 MIM:304110 ORDO:1520 SNOMEDCT_US_2023_03_01:715421009 UMLS_CUI:C0220767 |
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