Terminology Service for NFDI4Health
JSON

autosomal dominant osteopetrosis 2

Go to external page http://purl.obolibrary.org/obo/DOID_0110938

An osteopetrosis characterized by autosomal dominant inheritance of sclerosis predominantly involving the spine, the pelvis, and the skull base, bone fragility and dental abscesses that has_material_basis_in mutation in the CLCN7 gene on chromosome 16p13. [ http://purl.obolibrary.org/obo/ECO_0007645 ]

Term info

Label

autosomal dominant osteopetrosis 2

Synonyms
  • Albers-Schonberg osteopetrosis
  • OPTA2
  • autosomal dominant Albers-Schonberg disease
  • autosomal dominant osteopetrosis type II
  • osteopetrosis autosomal dominant type 2
database cross reference
has obo namespace

disease_ontology

id

DOID:0110938