Congenital Disorder Of Glycosylation Iq
Disease ID: disease_node_20405
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| Dbxref | GARD:12397, MIM:612379, ORDO:324737 |
|---|---|
| Subclassof | DOID_0050737, DOID_0050570 |
| Data Source | DOID |
| Synonyms | congenital disorder of glycosylation 1q |
| Doid Label | congenital disorder of glycosylation Iq |
| Doid Description | A congenital disorder of glycosylation I that is characterized by a highly variable phenotype typically presenting with severe visual impairment, variable ocular anomalies (such as optic nerve hypoplasia/atrophy, iris and optic nerve coloboma, congenital cataract, glaucoma), intellectual disability, cerebellar abnormalities, nystagmus, hypotonia, ataxia, and/or ichthyosiform skin lesions and has_material_basis_in homozygous or compound heterozygous mutation in the SRD5A3 gene on chromosome 4q12. |
| Has Phenotype | HP_0000609, HP_0006817, HP_0001272, HP_0001251, HP_0001252, HP_0000505, HP_0000612, HP_0000639, HP_0007431 |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20405 |
| Doid Id | DOID_0080568 |
| Disease Has Basis In | HP_0001197 |
| Label | Congenital Disorder Of Glycosylation Iq |
- 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)