| Metadata | |
|---|---|
| ID | DOID:0070268 |
| Name | congenital disorder of glycosylation type IIp |
| Definition | A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the TMEM199 gene on chromosome 17q11.2. https://www.ncbi.nlm.nih.gov/pubmed/26833330 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
Carbohydrate deficient glycoprotein syndrome type IIp [EXACT] CDG IIp [EXACT] CDG syndrome type IIp [EXACT] CDG2P [EXACT] CDGIIp [EXACT] Congenital disorder of glycosylation type 2p [EXACT] TMEM199-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 |