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| Term | otopalatodigital syndrome type 2 | ID (Ontology) | DOID:0111784 (Human Disease) |
| Definition | An otopalatodigital syndrome spectrum disorder characterized by disabling skeletal anomalies and variable malformations in the hindbrain, heart, intestines, and kidneys that frequently lead to perinatal death in males and less severe phenotypes in females that has_material_basis_in hemizygous or heterozygous mutation in exons 3, 4, or 5 in males or exons 28 or 29 in females of the FLNA gene on chromosome Xq28. | ||
| Also Known As | "Andre syndrome" ; "faciopalatoosseous syndrome" ; "OPD II syndrome" (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____________________ bone development disease | |__otopalatodigital syndrome spectrum disorder__| otopalatodigital syndrome type 2 2 rec. |
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X-linked dominant disease otopalatodigital syndrome spectrum disorder |
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GARD:5802 MESH:C538089 MIM:304120 ORDO:90652 SNOMEDCT_US_2023_03_01:42432003 UMLS_CUI:C1844696 |
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