Current viewDisease Dashboard

Diseases & Phenotypes

Explore disease ontologies, phenotypes, and rare disease databases

MONDO Ontology

Browse the Monarch Disease Ontology with hierarchical disease classification and cross-references

Features: Disease search, OMIM/Orphanet mappings, HPO phenotypes

HPO Ontology

Explore the Human Phenotype Ontology with hierarchical phenotypic abnormality terms

Features: Hierarchical navigation, phenotype search, parent-child relationships

UBERON Anatomy

Browse anatomical structures with connections to diseases and hierarchical organization

Features: Anatomy search, MONDO disease connections, hierarchical navigation

MedGen

Search NCBI's Medical Genetics database with clinical and genetic information

Features: Concept search, UMLS CUI mapping, genetic condition details

Orphanet

Access the rare disease portal with clinical descriptions and classifications

Features: Rare disease search, prevalence data, clinical features

HGNC Genes

Browse human gene nomenclature with mappings to OMIM and PubMed

Features: Gene symbols, aliases, OMIM/PubMed links

Gene to Phenotype

Browse gene-disease associations from EBI G2P clinical genetics panels

Features: Gene search, confidence levels, allelic requirements, panel filtering

OMIM Database

Online Mendelian Inheritance in Man - comprehensive genetic disorder database

Features: Disease search, HPO phenotypes, G2P associations, MONDO mappings

MeSH Terms

Browse Medical Subject Headings used for indexing PubMed articles

Features: Hierarchical tree navigation, descriptor search, scope notes

Disease Search

Unified search across multiple disease databases and ontologies

Features: Cross-database search, unified results, comprehensive coverage

Database Schema

Visual diagram showing all disease tables and their relationships

Features: Interactive ER diagram, table descriptions, integration points

About Disease Resources

MONDO

Comprehensive disease ontology integrating multiple disease classifications with cross-references to OMIM, Orphanet, and other databases.

HPO

Human Phenotype Ontology provides standardized vocabulary for describing phenotypic abnormalities in human diseases.

MedGen

NCBI's portal for medical genetics integrating information about genetic conditions and phenotypes from various sources.

Orphanet

European reference portal for rare diseases providing information on epidemiology, clinical features, and diagnostic criteria.

MeSH

Medical Subject Headings controlled vocabulary for indexing biomedical literature and clinical information.

G2P

Gene to Phenotype database linking genes to diseases with clinical evidence from genetics expert panels at EBI.

OMIM

Online Mendelian Inheritance in Man - authoritative compendium of human genes and genetic phenotypes with cross-references to G2P, HPO, and MONDO.

Integration

All resources are interconnected with mappings allowing exploration across different disease classification systems.