Definition

An osteopetrosis characterized by autosomal dominant inheritance of generalized osteosclerosis that is most pronounced in the cranial vault, absence of increased fractures and has_material_basis_in heterozygous mutation in the LRP5 gene on chromosome 11q13.

Synonyms

autosomal dominant osteopetrosis type 1
OPTA1

Cross References

Parent Terms

Child Terms

None

Sources of Associations

Associated Genes

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Associated Alleles

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autosomal dominant osteopetrosis 1

autosomal dominant osteopetrosis 1

Associated Genes

Associated Alleles

Associated Models