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Feingold KR, Anawalt B, Blackman MR, et al., editors. Endotext [Internet]. South Dartmouth (MA): MDText.com, Inc.; 2000-.
| Group/name of disorder | Inher. | OMIM | GR | Orpha | Gene |
|---|---|---|---|---|---|
| Familial expansile osteolysis | AD | 174810 | 85195 | TNFRSF11A | |
| Mandibuloacral dysplasia type A | AD | 248370 | 90153 | LMNA | |
| Mandibuloacral dysplasia type B | AR | 608612 | 90154 | ZMPSTE24 | |
| Progeria, Hutchinson-Gilford type | AD | 176670 | 1121 | 740 | LMNA |
| Torg-Winchester syndrome | AR | 259600 | 3460 | MMP2 | |
| Hajdu-Cheney syndrome | AD | 102500 | 955 | NOTCH2 | |
| Multicentric carpal-tarsal osteolysis with and without nephropathy | AD | 166300 | 2774 | MAFB | |
| Lipomembraneous osteodystrophy with leukoencephalopathy (presenile dementia with bone cysts; Nasu-Hakola) | AR | 221770 | 1197 | 2770 | TREM2 |
| Lipomembraneous osteodystrophy with leukoencephalopathy (presenile dementia with bone cysts; Nasu-Hakola) | AR | 221770 | 1197 | 2770 | TYROBP |
From: Skeletal Dysplasias
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