autosomal dominant osteopetrosis 1
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. [ http://purl.obolibrary.org/obo/ECO_0007645 ]
Term info
autosomal dominant osteopetrosis 1
- OPTA1
- autosomal dominant osteopetrosis type 1
disease_ontology
DOID:0110937