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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:LMNA-related cardiocutaneous progeria syndrome
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Accession:EFO:MONDO:0018203 term browser browse the term
Definition:A rare, genetic, premature aging syndrome characterized by adulthood-onset cutaneous manifestations that result in a prematurely aged appearance (i.e. premature thinning and graying of scalp hair, loss of subcutaneous fat, tightening of skin) associated with prominent cardiovascular manifestations, such as accelerated atherosclerosis, calcific valve disease, and cardiomyopathy. Patients present loss of eyebrows and eyelashes in childhood and have a predisposition to develop malignancies.
Synonyms:exact_synonym: LCPS
 alt_id: MONDO:0018203
 xref: GARD:21555;   MEDGEN:1667690;   ORDO:363618;   UMLS:C4750858


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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          premature aging syndrome 0
            LMNA-related cardiocutaneous progeria syndrome 0
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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          cardiovascular disease 0
            heart disease 0
              cardiogenetic disease 0
                LMNA-related cardiocutaneous progeria syndrome 0
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