autosomal recessive osteopetrosis 6
Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the PLEKHM1 gene.
MONDO:0019026
autosomal recessive osteopetrosis
is_a
OPTB6
exact
PLEKHM1 osteopetrosis (disease)
exact
autosomal recessive intermediate osteopetrosis
exact
autosomal recessive osteopetrosis type 6
exact
osteopetrosis (disease) caused by mutation in PLEKHM1
exact
osteopetrosis autosomal recessive 6
related
osteopetrosis autosomal recessive intermediate form
related
osteopetrosis, autosomal recessive 6
related
osteopetrosis, autosomal recessive type 6
exact