Log In|Sign Up
ENOrofaciodigital Syndrome Xvii (OFD17)
Alias:
Orofaciodigital Syndrome 17
Oral-Facial-Digital Syndrome, Type Xvii
Ofds Xvii
Ofd17
Favorite
Orofaciodigital Syndrome Xvii, also known as orofaciodigital syndrome 17, is related to juvenile nephronophthisis and nephronophthisis. An important gene associated with Orofaciodigital Syndrome Xvii is INTU (Inturned Planar Cell Polarity Protein). Affiliated tissues include tongue, and related phenotypes are short neck and hearing impairment
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
