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AttributesValues
rdf:type
rdfs:label
  • Progeria
rdfs:subClassOf
Semantic_Type
  • Disease or Syndrome
Preferred_Name
  • Progeria
UMLS_CUI
  • C0033300
ALT_DEFINITION
  • An abnormal congenital condition characterized by premature aging in children, where all the changes of cell senescence occur. It is manifested by premature greying; hair loss; hearing loss (DEAFNESS); cataracts (CATARACT); ARTHRITIS; OSTEOPOROSIS; DIABETES MELLITUS; atrophy of subcutaneous fat; skeletal hypoplasia; and accelerated ATHEROSCLEROSIS. Many affected individuals develop malignant tumors, especially SARCOMA.MSH2003_2003_05_12
Legacy_Concept_Name
  • Progeria
FULL_SYN
  • Hutchinson-Gilford Progeria SyndromeSYNCI
  • Hutchinson-Gilford DiseaseSYNCI
  • Premature Senility SyndromeSYNCI
  • ProgeriaPTNCI
DEFINITION
  • A very rare genetic disorder caused by mutations in the LMNA gene. It is characterized by premature aging. Signs and symptoms include failure to thrive, limited growth, alopecia, wrinkled skin, small face, development of atherosclerosis, and heart disease. There is no cure for this condition. Individuals do not usually survive beyond their early twenties. Death usually occurs as a result of complications from atherosclerosis.NCI
code
  • C34951
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