Congenital Disorder Of Glycosylation Il
Disease ID: disease_node_20409
Connections displayed (default: 10).
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| Dbxref | GARD:9839, MIM:608776, ORDO:79328 |
|---|---|
| Subclassof | DOID_0050737, DOID_0050570 |
| Data Source | DOID |
| Synonyms | congenital disorder of glycosylation 1l |
| Doid Label | congenital disorder of glycosylation Il |
| Doid Description | A congenital disorder of glycosylation I that is characterized by progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy, and hepatomegaly and has_material_basis_in homozygous mutation in the ALG9 gene on chromosome 11q23. |
| Has Symptom | SYMP_0000470 |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20409 |
| Doid Id | DOID_0080564 |
| Disease Has Basis In | HP_0001197 |
| Label | Congenital Disorder Of Glycosylation Il |
- Outgoing r'ship
HAS_SYMPTOMto/from Left Upper Quadrant Abdominal Rigidity(ID:disease_node_21557) (Disease) - 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)