loading...| Preferred Name |
progeria |
| Synonyms |
Hutchinson-Gilford Progeria syndrome |
| Definitions |
A 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 LMNA on chromosome 1q22. OMIM mapping confirmed by DO. [SN]. |
| ID |
http://purl.obolibrary.org/obo/DOID_3911 |
| comment |
OMIM mapping confirmed by DO. [SN]. |
| database_cross_reference |
GARD:7467 ORDO:740 ICD10CM:E34.8 MEDDRA:10036794 MESH:D011371 SNOMEDCT_US_2020_03_01:190590004 UMLS_CUI:C0033300 OMIM:176670 NCI:C34951 |
| has exact synonym |
Hutchinson-Gilford Progeria syndrome Hutchinson Gilford syndrome HGPS Hutchinson-Gilford disease |
| id |
DOID:3911 |
| in_subset |
http://purl.oboInOwllibrary.org/oboInOwl/doid#DO_FlyBase_slim |
| label |
progeria |
| notation |
DOID:3911 |
| prefLabel |
progeria |
| textual definition |
A 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 LMNA on chromosome 1q22. |
| 引自 | |
| 有_obo_命名空间 |
disease_ontology |
| subClassOf |