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Cell Culture Ontology
| Id | http://www.ebi.ac.uk/efo/EFO_0000671
http://www.ebi.ac.uk/efo/EFO_0000671
|
|---|---|
| Preferred Name | obsolete_progeria syndrome |
| Definitions |
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.
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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| Synonyms |
Hutchinson-Gilford Disease
Syndrome, Hutchinson-Gilford
Progeria syndrome (disorder) [Ambiguous]
Hutchinson Gilford syndrome
Premature senility syndrome
Hutchinson-Gilford Syndrome
Hutchinson-Gilford syndrome (disorder)
Progeria (disorder)
Hutchinson-Gilford Progeria syndrome
HGPS
Progeria
See more
See less
|
| Obsolete | true |
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| 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. 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. |
|---|---|
| preferred label |
obsolete_progeria syndrome
|
| label |
obsolete_progeria syndrome
|
| prefLabel |
obsolete_progeria syndrome
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| database_cross_reference |
SNOMEDCT:238870004
NCIt:C34951
MeSH:D011371
OMIM:176670
DOID:3911
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| organizational_class |
true
|
| term editor |
Tomasz Adamusiak
James Malone
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| reason_for_obsolescence |
use 'http://www.orpha.net/ORDO/Orphanet_740' instead.
New Label : Hutchinson-Gilford progeria syndrome
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| prefixIRI |
efo:EFO_0000671
|
| subClassOf | |
| obsoleted_in_version |
2.32
|
| deprecated |
true
|
| type | |
| term replaced by | |
| has_exact_synonym |
Hutchinson-Gilford Disease
Syndrome, Hutchinson-Gilford
Progeria syndrome (disorder) [Ambiguous]
Hutchinson Gilford syndrome
Premature senility syndrome
Hutchinson-Gilford Syndrome
Hutchinson-Gilford syndrome (disorder)
Progeria (disorder)
Hutchinson-Gilford Progeria syndrome
HGPS
Progeria
See more
See less
|
| Delete | Subject | Author | Type | Created |
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