Disease Term Disease ID Gene Symbol Classification References Source
Fibrochondrogenesis 2021, C0265282 COL11A1 Causal Pathogenic evidence from ClinVar 21035103 ClinVar
COL11A2 Causal Pathogenic evidence from ClinVar 22246659 ClinVar
FIBROCHONDROGENESIS 1 C3278138 COL11A1 Causal Pathogenic evidence from ClinVar 8872475, 21035103 ClinVar
FIBROCHONDROGENESIS 2 C3281128 COL11A2 Causal Pathogenic evidence from ClinVar 9805126, 22246659 ClinVar