Hereditary xerocytosis
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| DEHYDRATED HEREDITARY STOMATOCYTOSIS | KCNN4 | Unknown | GWAS catalog Orphanet | ||
| PIEZO1 | Unknown | GenCC Orphanet | |||
| SLC4A1 | Unknown | Disgenet Orphanet | |||
| DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA | KCNN4 | Unknown | — | Disgenet | |
| PIEZO1 | Unknown | — | Disgenet HPO | ||
| DEHYDRATED HEREDITARY STOMATOCYTOSIS 2 | KCNN4 | Causal | ClinVar Disgenet GWAS catalog HPO | ||
| DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA | PIEZO1 | Causal | ClinGen ClinVar Disgenet | ||
| DEHYDRATED HEREDITARY STOMATOCYTOSIS, PSEUDOHYPERKALEMIA, AND PERINATAL EDEMA | PIEZO1 | Unknown | — | CTD |