Cystinosis
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| CYSTINOSIS | CTNS | Causal | CTD ClinGen ClinVar Disgenet GenCC | ||
| CYSTINOSIS, ADULT NONNEPHROPATHIC | CTNS | Unknown | — | HPO | |
| CYSTINOSIS, ATYPICAL NEPHROPATHIC | CTNS | Causal | — | Disgenet | |
| CYSTINOSIS, BENIGN, NONNEPHROPATHIC | CTNS | Unknown | — | Disgenet | |
| TAX1BP3 | Unknown | — | Disgenet | ||
| CYSTINOSIS, INFANTILE NEPHROPATHIC | CTNS | Unknown | — | Disgenet | |
| CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE | CTNS | Unknown | — | CTD HPO | |
| CYSTINOSIS, NEPHROPATHIC | CTNS | Unknown | — | HPO | |
| CYSTINOSIS, OCULAR NONNEPHROPATHIC | CTNS | Unknown | — | CTD |