Terminology Service for NFDI4Health

autosomal dominant osteopetrosis 1

Go to external page http://purl.obolibrary.org/obo/DOID_0110937


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

Label

autosomal dominant osteopetrosis 1

Synonyms
  • OPTA1
  • autosomal dominant osteopetrosis type 1
database cross reference
has obo namespace

disease_ontology

id

DOID:0110937