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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00476 | Multiple epiphyseal dysplasia | Multiple epiphyseal dysplasia (EDM) is a genetically heterogeneous condition where ossification of epiphyses is delayed. Mutations causing EDM have been identified in COMP, DTDST, MATN3, COL9A1, COL9A2 ... | Congenital malformation |
(EDM1) COMP [HSA:1311] [KO:K04659] (EDM2) COL9A2 [HSA:1298] [KO:K08131] (EDM3) COL9A3 [HSA:1299] [KO:K08131] (EDM4) DTDST [HSA:1836] [KO:K14701] (EDM5) MATN3 [HSA:4148] [KO:K19467] (EDM6) COL9A1 [HSA:1297] [KO:K08131] (EDM7) CANT1 [HSA:124583] [KO:K12304] (EDMMD) COL2A1 [HSA:1280] [KO:K19719] |
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| H00494 |
Desbuquois syndrome Desbuquois dysplasia (DBQD) |
... characteristic appearance of proximal femur, called 'Swedish key', is reported in the disease. Mutations in the calcium-activated nucleotidase 1 gene (CANT1) and xylosyltransferase 1 (XYLT1) have been identified. | Congenital malformation |
(DBQD1) CANT1 [HSA:124583] [KO:K12304] (DBQD2) XYLT1 [HSA:64131] [KO:K00771] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |