| Disease Term | Human Homologs | Mouse Homologs | Mouse Models | Homology Source | |||
| craniometaphyseal dysplasia | ANKH | Ank* | 1 model | Alliance of Genome Resources | ||
| autosomal dominant craniometaphyseal dysplasia | ANKH* | Ank | Alliance of Genome Resources | ||||
| autosomal recessive craniometaphyseal dysplasia | GJA1* | Gja1 | Alliance of Genome Resources | ||||