Rare Diseases: Models & Mechanisms Network

Profile

Greenblatt, Ethan

Basic Information

First Name
Last Name
Organization
Department
Website http://www.greenblattlab.org

Contact Information

Email ethan.greenblatt@ubc.ca
Phone 604-827-0907

About My Research

Human Organ Systems

Nervous system
Genitourinary system

Human Disease Ontology

Term ID Term Name Term Definition
MONDO:0700092 neurodevelopmental disorder A behavioral and cognitive disorder with onset during the developmental period that involves impaired or aberrant development of intellectual, motor, or social functions.
MONDO:0005260 autism Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior.
MONDO:0010383 fragile X syndrome A genetic syndrome caused by mutations in the FMR1 gene which is responsible for the expression of the fragile X mental retardation 1 protein. This protein participates in neural development. This syndrome is manifested with mental, emotional, behavioral, physical, and learning disabilities.
MONDO:0021124 female infertility Diminished or absent ability of a female to achieve conception.
Read more about Human Disease Ontology.

Fruit Fly Research Focus

Translational regulation, RNA granules, stress granules, P bodies, ovarian biology, neurodevelopment

Gene ID Symbol Name Tier
33934 cup cup TIER1
35771 lig lingerer TIER1
39430 tral trailer hitch TIER1
37528 Fmr1 Fragile X messenger ribonucleoprotein 1 TIER1
47998 rin rasputin TIER1
34364 me31B maternal expression at 31B TIER1
59172 Capr Caprin TIER1
Term Name Aspect Overlap Size

Last modified on September 27, 2024.