Congenital Disorder Of Glycosylation Ip
Disease ID: disease_node_20406
Connections displayed (default: 10).
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| Dbxref | GARD:12396, MIM:613661, ORDO:280071 |
|---|---|
| Subclassof | DOID_0050737, DOID_0050570 |
| Data Source | DOID |
| Synonyms | congenital disorder of glycosylation 1p |
| Doid Label | congenital disorder of glycosylation Ip |
| Doid Description | A congenital disorder of glycosylation I that is characterized by facial dysmorphism (microcephaly, high forehead, low posterior hairline, strabismus), hypotonia, failure to thrive, intractable seizures, developmental delay, persistent vomiting and gastric bleeding and has_material_basis_in homozygous or compound heterozygous mutation in the ALG11 gene on chromosome 13q14. |
| Has Symptom | SYMP_0000007, SYMP_0019145 |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20406 |
| Doid Id | DOID_0080567 |
| Disease Has Basis In | HP_0001197 |
| Label | Congenital Disorder Of Glycosylation Ip |
- Outgoing r'ship
HAS_SYMPTOMto/from Vomiting(ID:disease_node_7914;disease_node_20962) (Disease) - Outgoing r'ship
HAS_SYMPTOMto/from Bleeding(ID:disease_node_21108) (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)