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