Incontinentia pigmenti syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Bloch Sulzberger syndrome | C0021171 | IKBKG | Causal Pathogenic evidence from ClinVar | 10839543, 11590134, 15229184, 16818673, 17728323, 19033441, 20434027, 24339369, 28870493, 30905793 | ClinVar |
| Incontinentia pigmenti | 464 | IKBKG | Causal Pathogenic evidence from ClinVar | - | ClinVar |
| INCONTINENTIA PIGMENTI, ATYPICAL | C4225596 | IKBKG | Causal Pathogenic evidence from ClinVar | - | ClinVar |