Congenital Disorder Of Glycosylation In
Disease ID: disease_node_20407
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| Dbxref | GARD:12394, MIM:612015, ORDO:244310 |
|---|---|
| Subclassof | DOID_0050737, DOID_0050570 |
| Data Source | DOID |
| Synonyms | congenital disorder of glycosylation 1n |
| Doid Label | congenital disorder of glycosylation In |
| Doid Description | A congenital disorder of glycosylation I that is characterized by poorly coordinated suck resulting in difficulty feeding and failure to thrive, myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder, roving eyes, developmental delay, poor to absent visual contact, and sensorineural hearing loss and has_material_basis_in homozygous or compound heterozygous mutation in the RFT1 gene on chromosome 3p21. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20407 |
| Doid Id | DOID_0080566 |
| Disease Has Basis In | HP_0001197 |
| Label | Congenital Disorder Of Glycosylation In |
- Outgoing r'ship
SUBCLASS_OFto/from Congenital Disorder Of Glycosylation Type I(ID:disease_node_20399) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)