autosomal dominant osteopetrosis 1

Term ID

DOID:0110937

Synonyms

• autosomal dominant osteopetrosis type 1
• OPTA1

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. (2)

References

• MESH:C536056
• OMIM:607634
• ORDO:2783
• UMLS_CUI:C1843330

Ontology

Human Disease   ( DOID:0110937 )