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References | OMIM | Gene | GeneReviews | HGMD | HGNC |
GENATLAS PHENOTYPE |
last update : 30-08-2010 |
Symbol | CMDJ |
Location | 5p15.2 |
HGNC id | 2112 |
Name | craniometaphyseal dysplasia |
Other name(s) | craniometaphyseal dysplasia, Jackson type |
Corresponding gene | ANKH |
Other symbol(s) | CMDD |
Main clinical features |
|
Genetic determination | autosomal dominant |
Function/system disorder | osteo-articular |
Type | disease |
Gene product |
Name | ankylosis progressive (mouse) homolog |
Remark(s) | mutations cluster in a small region of the ANKH protein causing thickening of bones without major effects on joints |