Osteopetrosis

rare

Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs.

Identifiers: MONDO:0017198 Orphanet:2781
Part of: Familial osteosclerosis Skeletal dysplasia
Also known as: Albers-Schoenberg disease · Albers-Schonberg disease · marble bone disease · marble bones · osteopetroses

Subtypes

All diseases Rare only

Disease	ID	Subtypes	Genes
Autosomal recessive osteopetrosis	MONDO:0019026	10
Autosomal dominant osteopetrosis	MONDO:0020645	4
Infantile osteopetrosis with neuroaxonal dysplasia	MONDO:0010866	1
Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome	MONDO:0010295
Dysosteosclerosis	MONDO:0009138
Early-onset calcifying leukoencephalopathy-skeletal dysplasia	MONDO:0034143
Melorheostosis	MONDO:0007970		MAP2K1
Osteomesopyknosis	MONDO:0008155
Osteopathia striata with cranial sclerosis	MONDO:0010310		AMER1
Osteosclerotic metaphyseal dysplasia	MONDO:0014080		LRRK1
Pycnodysostosis	MONDO:0009940		CTSK

Rare disease

Projects

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