atelosteogenesis type I
A perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings.
MONDO:0019700
obsolete primary bone dysplasia with multiple joint dislocations (obsolete MONDO:0019700)
excluded_subClassOf
MONDO:0000389
atelosteogenesis
is_a
MONDO:1060173
FLNB-associated autosomal dominant filamin related bone disorder
is_a
AO1
exact
AOI
exact
atelosteogenesis type 1
exact
atelosteogenesis, type I
related
giant cell chondrodysplasia
exact
spondylo-humero-femoral dysplasia
exact