autosomal recessive osteopetrosis 5
Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the OSTM1 gene.
MONDO:0010866
infantile osteopetrosis with neuroaxonal dysplasia
is_a
MONDO:0019026
autosomal recessive osteopetrosis
is_a
OPTB5
exact
OSTM1 osteopetrosis (disease)
exact
autosomal recessive osteopetrosis 5
exact
autosomal recessive osteopetrosis type 5
exact
osteopetrosis (disease) caused by mutation in OSTM1
exact
osteopetrosis autosomal recessive 5
related
osteopetrosis infantile malignant 3
related
osteopetrosis, autosomal recessive 5
related
osteopetrosis, autosomal recessive type 5
exact