Rare Diseases: Models & Mechanisms Network

Profile

Lesage, Sylvie

Basic Information

First Name
Last Name
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Department
Website https://crhmr.ciusss-estmtl.gouv.qc.ca/fr/chercheur/sylvie-lesage

Contact Information

Email sylvie.lesage@gmail.com
Phone 5142523400 ext 5696

About My Research

Human Organ Systems

Blood

Human Disease Ontology

Term ID Term Name Term Definition
MONDO:0009069 congenital lactic acidosis, Saguenay-Lac-Saint-Jean type Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome, is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development.
MONDO:0005147 type 1 diabetes mellitus A chronic condition characterized by minimal or absent production of insulin by the pancreas.
MONDO:0009061 cystic fibrosis Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity.
Read more about Human Disease Ontology.

Mouse Research Focus

Gene ID Symbol Name Tier
18985 Pou2af1 POU domain, class 2, associating factor 1 TIER2
72416 Lrpprc leucine-rich PPR-motif containing TIER2
12638 Cftr cystic fibrosis transmembrane conductance regulator TIER2
Term Name Aspect Overlap Size

Last modified on January 12, 2024.