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Examples: C0001080, Alzheimer's Disease, D009765, 213200
Hold "" key for selecting multiple diseases
Examples: APP, P04637, histone deacetylase 1
Hold "" key for selecting multiple genes
Examples: rs199473282, rs121909213
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  • Achondroplasia
Name:
Achondroplasia
UMLS CUI:
C0001080
Type:
disease
MeSH Class:
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
MeSH:
D000130
OMIM:
100800;134934
Semantic Type:
Congenital Abnormality
Phenotypic abnormality:
None
Disease Ontology:
disease of anatomical entity
Summary of Gene-Disease Associations
Evidences for Gene-Disease Associations
Summary of Variant-Disease Associations
Evidences for Variant-Disease Associations
Summary of Disease-Disease Associations
Disease Mappings
General links
  • Summary of All Gene-Disease Associations.
  • All Evidences supporting the Gene-Disease Associations.
  • Summary of All Variant-Disease Associations.
  • All Evidences supporting the Variant-Disease Associations.

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