Craniometaphyseal dysplasia
| Disease Term | Disease ID | Gene Symbol | References |
|---|---|---|---|
| Schwartz-Lelek syndrome | C0265292 | GJA1 | 23951358 |
| ANKH | 11326272, 11326338, 21438135 | ||
| Craniometaphyseal dysplasia, autosomal recessive type | C2931244 | GJA1 | 23951358 |
| CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT | C1852502 | ANKH | 11326338, 9915952, 11326272 |
| Craniometaphyseal dysplasia | 1522 | ANKH | |
| GJA1 |