SRD5A3-congenital disorder of glycosylation
Also known as CDG syndrome type Iq, CDG-Iq, CDG1Q, SRD5A3-CDG+8 more
CDG syndrome type Iq, CDG-Iq, CDG1Q, SRD5A3-CDG, congenital disorder of glycosylation type 1q, congenital disorder of glycosylation type Iq, CDG Iq, CDGIq, SRD5A3-CDG (CDG-Iq), coloboma, ocular, with ichthyosis, brain malformations, and endocrine abnormalities, congenital disorder of glycosylation due to steroid 5alpha-reductase type 3 deficiency, congenital disorder of glycosylation, type Iq.
What's happening now
An analyst briefing on current research, clinical, regulatory and industry activity surrounding this disease.
Associated genes
Genes associated with this disease in the canonical knowledge graph (Open Targets evidence). Number shows the association score.
Disease biology
Proteins whose encoding gene is associated with this disease, reached through the canonical gene→disease graph. Number shows the gene's association score.
Reference
Authoritative identity, definition & identifiers.
CDG syndrome type Iq, CDG-Iq, CDG1Q, SRD5A3-CDG, congenital disorder of glycosylation type 1q, congenital disorder of glycosylation type Iq, CDG Iq, CDGIq, SRD5A3-CDG (CDG-Iq), coloboma, ocular, with ichthyosis, brain malformations, and endocrine abnormalities, congenital disorder of glycosylation due to steroid 5alpha-reductase type 3 deficiency, congenital disorder of glycosylation, type Iq
- Disease identity & definition — NLM Medical Subject Headings (MeSH), public domain
- Related entities are derived from literature co-mention (studied together) — associative, not causal.