Odontochondrodysplasia 2 with hearing loss and diabetes

Disease Term Disease ID Gene Symbol Classification References Source
NEUROMUSCULAR DISEASE
MONDO:0019056
PLEKHG5 Unknown
17564964 23777631 23844677 29084947
CTD ClinGen
ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES
619269C5543275MONDO:0031010
MIA3 Unknown
16011615 21606205 29673405 31552105 32101163 33778321
ClinVar Disgenet HPO