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Human Disease Ontology
Last uploaded:
February 5, 2025
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| Id | http://purl.obolibrary.org/obo/DOID_3911
http://purl.obolibrary.org/obo/DOID_3911
|
|---|---|
| Preferred Name | progeria |
| 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].
|
| Synonyms |
Hutchinson-Gilford disease
Hutchinson-Gilford Progeria syndrome
Hutchinson Gilford syndrome
HGPS
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| 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. |
|---|---|
| label |
progeria
|
| comment |
OMIM mapping confirmed by DO. [SN].
|
| prefLabel |
progeria
|
| 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
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|
| notation |
DOID:3911
|
| in_subset | |
| id |
DOID:3911
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| has material basis in | |
| has_obo_namespace |
disease_ontology
|
| existence starts during | |
| subClassOf | |
| type | |
| has exact synonym |
Hutchinson-Gilford disease
Hutchinson-Gilford Progeria syndrome
Hutchinson Gilford syndrome
HGPS
|
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