loading...| Preferred Name |
progeria |
|
| Synonyms |
Hutchinson-Gilford disease |
|
| Definitions |
OMIM mapping confirmed by DO. [SN]. A progeroid syndrome characterized by extreme short stature, low body weight, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, and facial features that resemble aged persons that has_material_basis_in mutation in the LMNA gene on chromosome 1q22. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_3911 |
|
| comment |
OMIM mapping confirmed by DO. [SN]. |
|
| database_cross_reference |
MEDDRA:10036794 SNOMEDCT_US_2023_03_01:190590004 UMLS_CUI:C0033300 OMIM:176670 MESH:D011371 ICD10CM:E34.8 GARD:7467 NCI:C34951 ORDO:740 |
|
| existence starts during | ||
| has exact synonym |
Hutchinson-Gilford disease Hutchinson-Gilford Progeria syndrome Hutchinson Gilford syndrome HGPS |
|
| has material basis in | ||
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:3911 |
|
| in_subset |
http://purl.obolibrary.org/obo/doid#NCIthesaurus |
|
| label |
progeria |
|
| notation |
DOID:3911 |
|
| prefLabel |
progeria |
|
| textual definition |
A progeroid syndrome characterized by extreme short stature, low body weight, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, and facial features that resemble aged persons that has_material_basis_in mutation in the LMNA gene on chromosome 1q22. |
|
| subClassOf |