achondrogenesis type IB
Achondrogenesis type 1B (ACG1B), a form of achondrogenesis, is a rare lethal skeletal dysplasia characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage.
MONDO:0000226
mineral metabolism disease
is_a
MONDO:0019052
inborn errors of metabolism
is_a
MONDO:0019648
achondrogenesis
is_a
MONDO:0100592
SLC26A2-related skeletal dysplasia
is_a
ACG1B
related
Fraccaro achondrogenesis
related
achondrogenesis Ib
exact
achondrogenesis type IB
exact
achondrogenesis, Parenti-Fraccaro type
exact
achondrogenesis, type IB
related
SPAC869.05c SPBC3H7.02 SPCC320.05