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| Term | orofaciodigital syndrome XI | ID (Ontology) | DOID:0060381 (Human Disease) |
| Definition | An orofaciodigital syndrome that is characterized by blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures, low set ears, skeletal malformations, intellectual deficits, deafness and congenital heart defects. | ||
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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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No relevant statements available
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syndrome |__orofaciodigital syndrome |__orofaciodigital syndrome XI |
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Relationships
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| Is a | orofaciodigital syndrome | ||
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External Crossreferences & Linkouts
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MESH:C557821 MIM:612913 ORDO:141000 SNOMEDCT_US_2023_03_01:718681002 UMLS_CUI:C2752048 |
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