Log In|Sign Up
ENShort Rib-Polydactyly Syndrome, Beemer-Langer Type
Alias:
Short Rib-Polydactyly Syndrome Type 4
Favorite
Short Rib-Polydactyly Syndrome, Beemer-Langer Type, also known as short rib-polydactyly syndrome type 4, is related to osteochondrodysplasia and polydactyly. An important gene associated with Short Rib-Polydactyly Syndrome, Beemer-Langer Type is IFT80 (Intraflagellar Transport 80), and among its related pathways/superpathways are Signal Transduction and Organelle biogenesis and maintenance. Affiliated tissues include bone and brain, and related phenotypes are Synthetic lethal with Ras and limbs/digits/tail
Related ID：
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
Gene & Mutation
#
Gene
Function
Score
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Disease Model
Category
Name
MGI
Related Gene
Strain of Origin
Publications
References Literature
Title
PMID
Journal
Year
IF
