Term Name: autosomal dominant osteopetrosis 1
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.
Ontology: Human Disease [DOID:0110937]   ( DOID:0110937 )

Relationships
is a type of: autosomal dominant disease osteopetrosis
disjoint_from: autosomal dominant osteopetrosis 2