Coloboma of Iris

Alias:
Iris Coloboma
Coloboma of Iris, Choroid and Retina
Congenital Coloboma of Iris
Congenital Ocular Coloboma
Coloboma of Eye
Ocular Coloboma
Notched Iris
Coloboma Nos
Cleft Iris
Favorite
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Coloboma of Iris, also known as iris coloboma, is related to macs syndrome and coloboma of eye lens. An important gene associated with Coloboma of Iris is TMEM67 (Transmembrane Protein 67), and among its related pathways/superpathways are Ectoderm differentiation and P38 MAPK Signaling Pathway (sino). Affiliated tissues include eye and retina, and related phenotypes are nervous system and embryo
Related ID:
ICD11:1552972259

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
Unknown
--
9
125
--

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

#
Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
Wechat
Comparison
Al agent
Tutorials
Back to top