All diseases

4 entries on 1 page. Showing entries 1 - 4.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
05542 BSS Baratela-Scott syndrome (BSS) 300881 - 12 12 XYLT1 - autosomal recessive
05541 DBQD dysplasia, Desbuquois (DBQD) - - 7 6 CANT1, XYLT1 - -
00397 DBQD2 dysplasia, Desbuquois, type 2 (DBQD-2) 615777 AR 9 9 XYLT1 - -
02035 PXE pseudoxanthoma elasticum (PXE) 264800 AR 421 399 ABCC6, XYLT1, XYLT2 - -
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