loading...| Preferred Name | Progeria | |
| Synonyms |
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| Definitions |
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. |
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| ID |
http://purl.obolibrary.org/obo/NCIT_C34951 |
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| code |
C34951 |
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| Contributing_Source |
Cellosaurus |
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| 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. |
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| in_subset | ||
| label |
Progeria |
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| Legacy Concept Name |
Progeria |
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| Preferred_Name |
Progeria |
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| prefixIRI |
NCIT:C34951 |
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| prefLabel |
Progeria |
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| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C0033300 |
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| subClassOf |