WormBase Tree Display for DO_term: DOID:0070263
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| DOID:0070263 | Name | congenital disorder of glycosylation type IIk | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the TMEM165 gene on chromosome 4q12. | ||||
| Synonym | Exact | CDG IIk | |||
| CDG syndrome type IIk | |||||
| CDG2K | |||||
| CDGIIdk | |||||
| Carbohydrate deficient glycoprotein syndrome type IIk | |||||
| Congenital disorder of glycosylation type 2k | |||||
| TMEM165-CDG | |||||
| Parent | Is_a | DOID:0050571 | |||
| DOID:0050737 | |||||
| DB_info | Database | OMIM | disease | 614727 | |
| Attribute_of | Gene_by_orthology | WBGene00021847 |
