Disease Term Disease ID Gene Symbol Classification References Source
Ghosal hematodiaphyseal dysplasia 1802 TBXAS1 Causal Pathogenic evidence from ClinVar - ClinVar
Ghosal Hematodiaphyseal Dysplasia C1856465 TBXAS1 Causal Pathogenic evidence from ClinVar 18264100, 28868793 ClinVar