Achondroplasia
Disease Aliases (25) | 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
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Cross-references of Achondroplasia | OMIM | GARD | Orphanet | NCBI-GTR | NCBI-MedGen | MalaCards | MeSH | Annotations |