DisGeNET - a database of gene-disease associations

diseases

genes

variants

Examples: C0001080, Alzheimer's Disease, D009765, 213200

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Name:: Achondroplasia
UMLS CUI:: C0001080
Type:: disease
MeSH Class:: Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
MeSH:: D000130
OMIM:: 100800
Semantic Type:: Congenital Abnormality
Phenotypic abnormality:: None
Disease Ontology:: genetic disease; disease of anatomical entity

Summary of Gene-Disease Associations

Disease Mappings

General links