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| Term | frontometaphyseal dysplasia | ID (Ontology) | DOID:0111785 (Human Disease) |
| Definition | An otopalatodigital syndrome spectrum disorder characterized by abnormal ossification and skeletal patterning of the axial and appendicular skeleton, facial dysmorphism, urogenital anomalies, and hearing loss. | ||
| Also Known As | "FMD" | ||
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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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No relevant statements available
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bone development disease |__otopalatodigital syndrome spectrum disorder |__frontometaphyseal dysplasia 5 rec. |__frontometaphyseal dysplasia 1 2 rec. |__frontometaphyseal dysplasia 2 3 rec. |
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| Is a | otopalatodigital syndrome spectrum disorder | ||
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External Crossreferences & Linkouts
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GARD:826 MESH:C538064 MIM:PS305620 ORDO:1826 SNOMEDCT_US_2023_03_01:62803002 UMLS_CUI:C0265293 |
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