loading...| Preferred Name | progeria | |
| Synonyms |
Hutchinson-Gilford disease Hutchinson-Gilford Progeria syndrome Hutchinson Gilford syndrome HGPS |
|
| Definitions |
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. OMIM mapping confirmed by DO. [SN]. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_3911 |
|
| comment |
OMIM mapping confirmed by DO. [SN]. |
|
| alternative label |
Hutchinson-Gilford disease Hutchinson-Gilford Progeria syndrome Hutchinson Gilford syndrome HGPS |
|
| database_cross_reference |
MEDDRA:10036794 SNOMEDCT_US_2023_03_01:190590004 UMLS_CUI:C0033300 MESH:D011371 ICD10CM:E34.8 GARD:7467 MIM:176670 NCI:C34951 ORDO:740 |
|
| 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. OMIM mapping confirmed by DO. [SN]. |
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| existence starts during | ||
| existence starts during or after | ||
| has exact synonym |
Hutchinson-Gilford disease Hutchinson-Gilford Progeria syndrome Hutchinson Gilford syndrome HGPS |
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| 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 |
|
| note |
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. OMIM mapping confirmed by DO. [SN]. |
|
| preferred label |
progeria |
|
| prefLabel |
progeria |
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| subClassOf |