autosomal recessive spondylometaphyseal dysplasia, Megarbane type
Any spondylodysplastic dysplasia in which the cause of the disease is a mutation in the PAM16 gene.
MONDO:0016763
spondylometaphyseal dysplasia
is_a
MONDO:0800080
severe spondylodysplastic dysplasia
is_a
PAM16 spondylodysplastic dysplasia
exact
SMDMDM
related
spondylodysplastic dysplasia caused by mutation in PAM16
exact
spondylometaphyseal dysplasia, MEGARBANE-DAGHER-MELKI type
related
spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type
exact
SPBC713.10