FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
Help Close All Open All
General Information
Term autosomal dominant osteopetrosis 2 ID (Ontology) DOID:0110938 (Human Disease)
Definition 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.
Also Known As "Albers-Schonberg osteopetrosis" ; "autosomal dominant Albers-Schonberg disease" ; "autosomal dominant osteopetrosis type II" (for all, see Synonyms field below)
Comment
Links to External Ontologies
DO.org
Annotations
Records annotated with this term OR any of its CHILD TERMS
    Results list data from multiple species. Click on a button above and use the 'Filter by species' options on the resulting HitList to retrieve species-specific data.
Records annotated with this exact term (annotations to child terms are NOT included)
No relevant records available
show Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
 Full annotation statements 
Relevant FlyBase reports
 Genes
 autosomal dominant osteopetrosis 2       1
 for disease ribbon | autosomal dominant osteopetrosis 2       1
 model of | autosomal dominant osteopetrosis 2       1
Spanning Tree (Parents/Children)
Only view relationship: 
autosomal genetic disease
 |__autosomal dominant disease__
bone disease                    |
 |__spinal disease______________|
osteosclerosis                  |
 |__osteopetrosis_______________|
                                autosomal dominant osteopetrosis 2  1 rec.
Spanning Tree View Settings
Parents/Children
View Depth
Show hierarchy levels: for parents, for children
hide Relationships
Is a autosomal dominant disease
spinal disease
osteopetrosis
Part of
hide Synonyms & Secondary IDs
Synonyms
  • "Albers-Schonberg osteopetrosis" EXACT
    "autosomal dominant Albers-Schonberg disease" EXACT
    "autosomal dominant osteopetrosis type II" EXACT
    "OPTA2" EXACT OMO:0003012
    "osteopetrosis autosomal dominant type 2" EXACT
Secondary IDs
hide External Crossreferences & Linkouts
GARD:383
MESH:D010022
MIM:166600
ORDO:53
SNOMEDCT_US_2023_03_01:725050005
UMLS_CUI:C3179239