OBO ID: DOID:4480
Term Name: achondroplasia Search Ontology:
Synonyms:
  • Achondroplastic physique
  • Chondrodystrophia
  • osteosclerosis congenita
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. (5)
References:
Ontology: Human Disease   ( DOID:4480 )
Relationships
is a type of:
OTHER achondroplasia PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
FGFR3 Achondroplasia 100800
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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