GenTIGSA Gene Database on Rare Genetic Disorders
  Beta Version
Achondroplasia  
Disease Aliases (25)

Achondroplasia

Achondroplasia, severe, with developmental delay and acanthosis nigricans

Achondroplasias

Achondroplastic dwarf

Achondroplastic dwarfism

Achondroplastic physique

Chondrodystrophia

Chondrodystrophia fetalis

Congenital osteosclerosis

Dwarf, achondroplastic

Dysplasia, saddan

Dysplasias, saddan

Osteosclerosis congenita

Saddan

Saddan dysplasia

Saddan dysplasias

Saddans

Severe achondroplasia with developmental delay and acanthosis nigricans

Skeleton skin brain syndrome

Skeleton-skin-brain syndrome

Skeleton-skin-brain syndromes

Syndrome, skeleton-skin-brain

Syndromes, skeleton-skin-brain

Achondroplasia; ach

Associated Genes (1)
 

NCBI-RefSeq:  FGFR3   (Fibroblast growth factor receptor 3)

External Links:  gnomAD browser   Ensembl   GeneCards

 


Cross-references of Achondroplasia OMIM GARD Orphanet NCBI-GTR NCBI-MedGen MalaCards      MeSH Annotations