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| Term | Melnick-Needles syndrome | ID (Ontology) | DOID:0111788 (Human Disease) |
| Definition | An otopalatodigital syndrome spectrum disorder characterized by short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems that has_material_basis_in heterozygous or hemizygous mutation in the FLNA gene on chromosome Xq28. | ||
| Also Known As | "Melnick-Needles osteodysplasty" ; "MNS" ; "osteodysplasty of Melnick and Needles" | ||
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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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monogenic disease |__X-linked monogenic disease___________________ bone development disease | |__otopalatodigital syndrome spectrum disorder__| Melnick-Needles syndrome 2 rec. |
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| Is a |
X-linked monogenic disease otopalatodigital syndrome spectrum disorder |
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External Crossreferences & Linkouts
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GARD:7011 MEDDRA:10060908 MESH:D010009 MIM:309350 ORDO:1826 SNOMEDCT_US_2023_03_01:13449007 UMLS_CUI:C0025237 |
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