FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term achondroplasia ID (Ontology) DOID:4480 (Human Disease)
Definition An osteochondrodysplasia that is characterized by short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand and that has_material_basis_in heterozygous mutation in the fibroblast growth factor receptor-3 gene (FGFR3) on chromosome 4p16.3. Achondroplasia results in dwarfism due to the abnormal ossification of cartilage in the long bone.
Also Known As "Achondroplastic physique" ; "Chondrodystrophia" ; "osteosclerosis congenita"
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 Genes
 achondroplasia       1
 for disease ribbon | achondroplasia       1
 model of | achondroplasia       1
Spanning Tree (Parents/Children)
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bone development disease__
cartilage disease_________|
                          osteochondrodysplasia
                           |__achondroplasia  1 rec.
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Is a osteochondrodysplasia
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Synonyms
  • "Achondroplastic physique" EXACT
    "Chondrodystrophia" EXACT
    "osteosclerosis congenita" EXACT
Secondary IDs
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GARD:8173
ICD10CM:Q77.4
MESH:D000130
MIM:100800
NCI:C34345
SNOMEDCT_US_2023_03_01:268273004
UMLS_CUI:C0001080