Congenital Disorder Of Glycosylation Ig
Disease ID: disease_node_20414
Connections displayed (default: 10).
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| Dbxref | GARD:9833, MIM:607143, ORDO:79324 |
|---|---|
| Subclassof | DOID_0050737, DOID_0050570 |
| Data Source | DOID |
| Synonyms | ALG12-congenital disorder of glycosylation, congenital disorder of glycosylation 1g |
| Doid Label | congenital disorder of glycosylation Ig |
| Doid Description | A congenital disorder of glycosylation I that is characterized by facial dysmorphism (prominent forehead, large ears, thin upper lip), generalized hypotonia, feeding difficulties, moderate to severe developmental delay, progressive microcephaly, frequent upper respiratory tract infections due to impaired immunity with decreased immunoglobulin levels, and decreased coagulation factors and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding dolichyl-P-mannose:Man-7-GlcNAc-2-PP-dolichyl-alpha-6-mannosyltransferase on chromosome 22q13. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20414 |
| Doid Id | DOID_0080559 |
| Disease Has Basis In | HP_0001197 |
| Label | Congenital Disorder Of Glycosylation Ig |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Congenital Disorder Of Glycosylation Type I(ID:disease_node_20399) (Disease)