Disease Database Schema
Comprehensive overview of all disease-related tables and their relationships
Entity Relationship Diagram
Interactive diagram showing all disease-related tables and their relationships. Lines show data connections between systems.
Table Descriptions & Relationships
mondo_terms
Core disease ontology terms with hierarchical disease classification.
mondo_relationships
Hierarchical relationships between MONDO terms (is_a, part_of, etc.).
mondo_omim_mappings
Cross-references between MONDO terms and OMIM genetic disorders.
mondo_mesh_mappings
Mappings between MONDO and MeSH medical subject headings.
mondo_disease_ontology_mappings
Cross-references to Disease Ontology (DO) terms.
mondo_metadata
Import metadata tracking ontology version and statistics.
hpo_terms
Human Phenotype Ontology terms describing clinical phenotypes.
hpo_relationships
Hierarchical relationships between HPO terms.
omim_hpo_mappings
Links OMIM diseases to their associated phenotypes.
orphanet_hpo_mappings
Links Orphanet rare diseases to phenotype terms.
hpo_uberon_mappings
Links HPO phenotype terms to UBERON anatomical structures.
omim_terms
Online Mendelian Inheritance in Man - authoritative genetic disorder database.
mondo_omim_mappings
Cross-references between disease ontology and genetic disorders.
omim_hpo_mappings
Disease-phenotype associations from OMIM.
hgnc_genes
Official human gene symbols and identifiers from HGNC.
hgnc_gene_groups & hgnc_gene_group_association
Gene families and their member genes (many-to-many).
hgnc_alias_symbols & hgnc_alias_symbol_association
Alternative gene symbols linked to HGNC genes.
hgnc_omim_mappings
OMIM references attached to HGNC genes.
hgnc_pubmed_mappings
PubMed references associated with HGNC genes.
hgnc_g2p_xref
Cross-reference between HGNC genes and G2P entries.
g2p_entry
Curated gene-disease associations from EBI clinical genetics panels.
g2p_hpo_mapping
Links G2P entries to associated phenotypes.
g2p_mondo_mapping
Cross-references G2P to MONDO disease ontology.
g2p_omim_mapping
Links G2P entries to OMIM genetic disorders.
g2p_publication
Supporting publications for G2P associations.
g2p_panel & g2p_entry_panel
Clinical genetics panels (DD, Cancer, Cardiac, etc.) and their entries.
g2p_variant_type & g2p_entry_variant_type
Types of genetic variants associated with entries.
orphanet_diseases
Rare disease database from Orphanet with clinical descriptions.
orphanet_mondo_mappings
Cross-references between Orphanet and MONDO.
orphanet_hpo_mappings
Phenotype associations for rare diseases.
orphanet_genes
Gene associations with rare diseases.
orphanet_phenotypes
Clinical phenotype descriptions for rare diseases.
orphanet_epidemiology
Prevalence and epidemiological data.
medgen_concepts
NCBI's medical genetics concepts with UMLS integration.
medgen_mondo_mappings
Links MedGen concepts to MONDO disease ontology.
uberon_terms
Anatomical structure terms from the UBERON cross-species anatomy ontology.
uberon_relationships
Hierarchical relationships between UBERON anatomy terms (is_a, part_of, develops_from).
mondo_uberon_mappings
Links MONDO diseases to affected anatomical structures (location, inflammation site, etc.).
omim_uberon_mappings
Anatomy mappings for OMIM disorders, derived or curated from MONDO links.
hpo_uberon_mappings
Links HPO phenotype terms to UBERON anatomical structures.
mesh_terms
Medical Subject Headings - controlled vocabulary for indexing.
mondo_mesh_mappings
Cross-references between diseases and medical terms.
mesh_pubmed_mappings
Links MeSH terms to PubMed articles.
pubmed_metadata
Research article metadata from PubMed/MEDLINE database.
mesh_pubmed_mappings
MeSH term indexing for PubMed articles.
g2p_publications
Publications supporting gene-disease associations.
clinical_trials
Clinical study metadata from ClinicalTrials.gov registry.
trial_conditions
Diseases and conditions studied in clinical trials.
trial_interventions
Therapeutic interventions being tested in trials.
trial_mesh_terms
MeSH indexing for clinical trials.
disease_ontology_terms
Disease Ontology (DO) standardized disease classification.
mondo_do_mappings
Cross-references between MONDO and Disease Ontology.
Key Relationships & Integration Points
MONDO as Hub
MONDO serves as the central integration point, mapping to OMIM, MeSH, Disease Ontology, Orphanet, and MedGen.
HPO Cross-References
HPO phenotypes link across OMIM, Orphanet, G2P, and UBERON anatomy, enabling phenotype-based disease and anatomical exploration.
G2P Integration
G2P entries reference OMIM IDs (gene_mim, disease_mim) and MONDO IDs, creating gene-disease-phenotype connections.
Literature Links
MeSH indexes PubMed articles, connecting diseases to research literature. G2P entries cite supporting publications.
Clinical Trials
ClinicalTrials.gov data links to MONDO diseases and MeSH terms, enabling translation research tracking.
Rare Disease Focus
Orphanet provides specialized rare disease data with epidemiology, genes, and phenotypes.
Clinical Genetics
G2P panels organize gene-disease associations by clinical specialty (DD, Cancer, Cardiac).
Multi-Ontology
System integrates 10+ databases: MONDO, HPO, OMIM, G2P, Orphanet, MedGen, MeSH, PubMed, ClinicalTrials, Disease Ontology.