Congenital Disorder Of Glycosylation Iy
Disease ID: disease_node_20422
Connections displayed (default: 10).
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| Dbxref | GARD:12405, MIM:300934, ORDO:370927 |
|---|---|
| Subclassof | DOID_0080012, DOID_0050570 |
| Data Source | DOID |
| Synonyms | congenital disorder of glycosylation 1y |
| Doid Label | congenital disorder of glycosylation Iy |
| Doid Description | A congenital disorder of glycosylation I that is characterized by neurologic abnormalities (global developmental delay in language, social skills and fine and gross motor development, intellectual disability, hypotonia, microcephaly, seizures/epilepsy), facial dysmorphism (deep set eyes, large ears, hypoplastic vermillion of upper lip, large mouth with widely spaced teeth), feeding problems often due to chewing difficulties and aversion to food with certain textures, failure to thrive, gastrointestinal abnormalities (reflux or vomiting) and strabismus and has_material_basis_in hemizygous mutation in the SSR4 gene on chromosome Xq28. |
| Has Symptom | SYMP_0019145 |
| Has Material Basis In | GENO_0000149 |
| Disease Node Id | disease_node_20422 |
| Doid Id | DOID_0080574 |
| Disease Has Basis In | HP_0001197 |
| Label | Congenital Disorder Of Glycosylation Iy |
- Outgoing r'ship
HAS_SYMPTOMto/from Vomiting(ID:disease_node_7914;disease_node_20962) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Congenital Disorder Of Glycosylation Type I(ID:disease_node_20399) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from X-Linked Recessive Disease(ID:disease_node_13254) (Disease)