Acromesomelic dysplasia

Disease Term Disease ID Gene Symbol Classification References Source
Acromesomelic dysplasia Hunter-Thompson type C2930970 BMPR1B Causal Pathogenic evidence from ClinVar 29322508 ClinVar
GDF5 Causal Pathogenic evidence from ClinVar 2703235, 8589725 ClinVar
DMP1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE C4225404 BMPR1B Causal Pathogenic evidence from ClinVar 15805157, 24129431, 26105076 ClinVar
Acromesomelic dysplasia, Grebe type 2098 BMPR1B Causal Pathogenic evidence from ClinVar - ClinVar
GDF5 Causal Pathogenic evidence from ClinVar - ClinVar
Acromesomelic dysplasia, Hunter-Thompson type 968 GDF5 Causal Pathogenic evidence from ClinVar - ClinVar
Acromesomelic dysplasia, Maroteaux type 40 NPR2 Causal Pathogenic evidence from ClinVar - ClinVar
ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE C1864356 NPR2 Causal Pathogenic evidence from ClinVar 15146390, 17652215, 22691581, 23065701, 26980729 ClinVar
SPAG8 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 15146390 -