Rhizomelic chondrodysplasia punctata
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ICD-9 | 277.86 |
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OMIM | 215100 222765 600121 |
DiseasesDB | 31410 |
MeSH | D018902 |
Rhizomelic chondrodysplasia punctata is a form of chondrodysplasia punctata which present with rhizomelia.
- Type 1 is associated with PEX7
- Type 2 is associated with DHAPAT
- Type 3 is associated with AGPS (gene)