![]()
Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | acromesomelic dysplasia-4 | | IAGP | RGD:150548778 | 8554872 | ClinVar Annotator: match by term: ACROMESOMELIC DYSPLASIA 4 | ClinVar | PMID:33106379 | acromesomelic dysplasia-4 | | IAGP | RGD:150548776 | 8554872 | ClinVar Annotator: match by term: Acromesomelic dysplasia 4 | ClinVar | PMID:33106379, PMID:34782440 | Kabuki Syndrome 1 | | IAGP | RGD:152981088 | 8554872 | ClinVar Annotator: match by term: Kabuki syndrome 1 | ClinVar | PMID:25741868 | Spondylometaphyseal Dysplasia Pagnamenta Type | | IAGP | RGD:150548779 | 8554872 | ClinVar Annotator: match by term: Spondylometaphyseal dysplasia, pagnamenta type | ClinVar | PMID:34782440 | |