autosomal recessive osteopetrosis
An autosomal recessive form of osteopetrosis caused by mutation(s) in at least 8 genes related to osteoclast function. This condition is characterized by the failure of osteoclasts to resorb bone, resulting in impaired bone modeling/remodeling, and skeletal fragility despite increased bone mass; it is also associated with hematopoietic insufficiency, hypocalcemia, disturbed tooth eruption, nerve entrapment syndromes, and growth impairment. Some cases are also associated with progressive neurological deterioration.
MONDO:0006025
autosomal recessive disease
is_a
MONDO:0017198
osteopetrosis
is_a
MONDO:0020249
hereditary optic neuropathy
is_a
OPTB
exact
autosomal recessive malignant osteopetrosis
exact
autosomal recessive osteopetrosis
exact
autosomal recessive osteopetrosis (disease)
exact
infantile malignant osteopetrosis
exact
osteopetrosis (disease), autosomal recessive
exact
SPBC19C7.11 SPBC887.02 SPBC543.05c SPAC16E8.07c