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| Term | familial partial lipodystrophy type 2 | ID (Ontology) | DOID:0070202 (Human Disease) |
| Definition | A familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous fat from the limbs and trunk that has_material_basis_in mutation in the LMNA gene on chromosome 1q21. | ||
| Also Known As | "familial lipodystrophy of limbs and lower trunk" ; "familial partial lipodystrophy Dunnigan type" ; "FPLD2" (for all, see Synonyms field below) | ||
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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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autosomal genetic disease |__autosomal dominant disease______ partial lipodystrophy | |__familial partial lipodystrophy__| familial partial lipodystrophy type 2 4 rec. |
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| Is a |
familial partial lipodystrophy autosomal dominant disease |
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Synonyms & Secondary IDs
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External Crossreferences & Linkouts
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GARD:3126 MESH:D052496 MIM:151660 NCI:C165527 ORDO:2348 SNOMEDCT_US_2023_03_01:715439000 UMLS_CUI:C1720860 |
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