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CompoundsSubstances with curated findings
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ReactionsRhea and Human-GEM, by subsystem
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DiseasesFeatures, genes, and where each sits

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Reference

Evidence

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Outcomes
Proteins
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Chemistry

Reactions
Reach

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Pathways
Processes
Anatomy
Cell types
Organisms
Materials
Assessments
Diseases

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Computational infrastructure for human biology, built on a provenance-aware knowledge graph. Findings retain their sources; research and simulation are the next layers.

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A reference for what the literature reports. Not medical advice.

Disease

DHDDS-CDG

MONDO:1040054Mondo

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Findings

No curated finding names DHDDS-CDG yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Any congenital disorder of glycosylation caused by variants in the DHDDS gene.

Definition from the Mondo Disease Ontology (MONDO:1040054), read 2026-09-29. CC BY 4.0.

Genes

1 gene

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

DHDDSHGNC:20603
- Definitive · ClinGen · Autosomal recessive · 2023

Where it sits

A kind of: disorder of glycosylation
hereditary disease
Narrower terms (1): retinitis pigmentosa 59