Terminal osseous dysplasia and pigmentary defects
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Terminal Osseous Dysplasia and Pigmentary Defects | C1846129 | FLNA | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | 12612583, 14988809, 20598277, 28425981 | - |
| Terminal osseous dysplasia-pigmentary defects syndrome | 88630 | FLNA | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | - | - |