Congenital Disorder Of Glycosylation Type Iim
Disease ID: disease_node_19247
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| Dbxref | GARD:12403, MIM:300896, ORDO:356961 |
|---|---|
| Subclassof | DOID_0050571, DOID_0080009 |
| Data Source | DOID |
| Synonyms | CDG IIm, CDGIIm, DEE22, EIEE22, SLC35A2-CDG, congenital disorder of glycosylation type 2m, developmental and epileptic encephalopathy 22, epileptic encephalopathy, early infantile, 22 |
| Doid Label | congenital disorder of glycosylation type IIm |
| Doid Description | A congenital disorder of glycosylation type II that is characterized by infantile onset seizures, hypsarrhythmia, hypotonia, and severe intellectual disability with lack of speech and that has_material_basis_in X-linked domit inheritance of hemizygous or heterozygous mutation in the SLC35A2 gene on chromosome Xp11.23. |
| Has Material Basis In | GENO_0000146 |
| Disease Node Id | disease_node_19247 |
| Doid Id | DOID_0070265 |
| Disease Has Basis In | HP_0001197 |
| Label | Congenital Disorder Of Glycosylation Type Iim |
| Doid Alternate Ids | DOID_0080469 |
- Outgoing r'ship
SUBCLASS_OFto/from X-Linked Domit Disease(ID:disease_node_13587) (Disease)