Craniometaphyseal dysplasia
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| CRANIOMETAPHYSEAL DYSPLASIA | ANKH | Unknown | GWAS catalog Orphanet | ||
| GJA1 | Unknown | Orphanet | |||
| CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT | ANKH | Causal | CTD ClinVar Disgenet GWAS catalog HPO | ||
| OTULIN | Unknown | — | Disgenet | ||
| CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE | GJA1 | Unknown | — | ClinVar GenCC HPO | |
| CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE TYPE | GJA1 | Unknown | — | CTD Disgenet |