Disease Term Disease ID Gene Symbol Classification References Source
Smith-McCort dysplasia 178355 DYM Causal Pathogenic evidence from ClinVar - ClinVar
RAB33B Causal Pathogenic evidence from ClinVar - ClinVar
SMITH-MCCORT DYSPLASIA C1846431 DYM Causal Pathogenic evidence from ClinVar 12491225, 15464420 ClinVar
RAB33B Causal Pathogenic evidence from ClinVar 22652534 ClinVar
SMITH-MCCORT DYSPLASIA 1 C3888088 DYM Causal Pathogenic evidence from ClinVar 12491225, 16097008, 18996921, 19005420 ClinVar
SMITH-MCCORT DYSPLASIA 2 C3714896 RAB33B Causal Pathogenic evidence from ClinVar 22652534, 23042644, 28127940 ClinVar