Search Ontology:
Human Disease

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
Ontology
Human Disease   ( DOID:0110937 )
Relationships
is a type of
disjoint_from
Other Pages
Genes Involved
Zebrafish Models