autosomal recessive osteopetrosis
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
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
SPAC16E8.07c SPBC19C7.11 SPBC543.05c SPBC887.02