loading...| Preferred Name |
Progeria [Disease/Finding] |
|
| Synonyms |
Hutchinson Gilford Progeria Syndrome |
|
| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000002495 |
|
| altLabel |
Hutchinson Gilford Progeria Syndrome Hutchinson-Gilford Syndrome Progeria Hutchinson-Gilford Progeria Syndrome |
|
| cui |
C0033300 |
|
| MESH DEFINITION |
An abnormal congenital condition, associated with defects in the LAMIN TYPE A gene, which is 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; elevated urinary HYALURONIC ACID; and accelerated ATHEROSCLEROSIS. Many affected individuals develop malignant tumors, especially SARCOMA. |
|
| MESH DUI |
D011371 |
|
| MeSH name |
Progeria |
|
| MESH UI |
M0017668 |
|
| NDFRT kind |
DISEASE_KIND |
|
| notation |
N0000002495 |
|
| NUI |
N0000002495 |
|
| prefLabel |
Progeria [Disease/Finding] |
|
| SNOMED CID |
238870004 |
|
| tui |
T047 |
|
| subClassOf |