achondroplasia
ACH
exact
achondroplasia
exact
achondroplastic dwarfism
related
Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia.
MONDO:0018232
obsolete primary bone dysplasia with micromelia (obsolete MONDO:0018232)
excluded_subClassOf
MONDO:0005516
osteochondrodysplasia
is_a
MONDO:0019685
FGFR3-related chondrodysplasia
is_a