loading...| Preferred Name | Progeria | |
| Synonyms |
Hutchinson Gilford Progeria Syndrome Hutchinson-Gilford Progeria Syndromes Hutchinson Gilford Syndrome Hutchinson-Gilford Syndrome Progeria Syndromes, Hutchinson-Gilford Progeria Syndrome, Hutchinson-Gilford Hutchinson-Gilford 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 graying; 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. |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D011371 |
|
| altLabel |
Hutchinson Gilford Progeria Syndrome Hutchinson-Gilford Progeria Syndromes Hutchinson Gilford Syndrome Hutchinson-Gilford Syndrome Progeria Syndromes, Hutchinson-Gilford Progeria Syndrome, Hutchinson-Gilford Hutchinson-Gilford Progeria Syndrome |
|
| AQL |
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI |
|
| cui |
C0033300 |
|
| DC |
1 |
|
| 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 graying; 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. |
|
| DX |
19660101 |
|
| FX |
D014898 D003057 |
|
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
| Inverse of RO | ||
| Mapped from |
http://purl.bioontology.org/ontology/MESH/C566621 http://purl.bioontology.org/ontology/MESH/C535448 http://purl.bioontology.org/ontology/MESH/C537190 http://purl.bioontology.org/ontology/MESH/C536653 http://purl.bioontology.org/ontology/MESH/C567661 http://purl.bioontology.org/ontology/MESH/C536422 http://purl.bioontology.org/ontology/MESH/C536423 http://purl.bioontology.org/ontology/MESH/C567360 |
|
| MDA |
19990101 |
|
| MMR |
20200221 |
|
| MN |
C18.452.648.753 C16.320.565.753 C16.320.488.875 |
|
| notation |
D011371 |
|
| prefLabel |
Progeria |
|
| TERMUI |
T834214 T033535 T033534 T811837 |
|
| TH |
OMIM (2013) NLM (1966) UNK (19XX) GHR (2014) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |