| Metadata | |
|---|---|
| ID | DOID:0070263 |
| Name | congenital disorder of glycosylation type IIk |
| Definition | A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the TMEM165 gene on chromosome 4q12. https://www.ncbi.nlm.nih.gov/pubmed/22683087 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
Carbohydrate deficient glycoprotein syndrome type IIk [EXACT] CDG IIk [EXACT] CDG syndrome type IIk [EXACT] CDG2K [EXACT] CDGIIk [EXACT] Congenital disorder of glycosylation type 2k [EXACT] TMEM165-CDG [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance disease has basis in some Abnormality of prenatal development or birth |