autosomal dominant osteopetrosis 2

Term ID

DOID:0110938

Synonyms

Albers-Schonberg osteopetrosis
autosomal dominant Albers-Schonberg disease
autosomal dominant osteopetrosis type II
OPTA2
osteopetrosis autosomal dominant type 2

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. (2)

References

GARD:383
MESH:D010022
MIM:166600
ORDO:53
SNOMEDCT_US_2023_03_01:725050005
UMLS_CUI:C3179239

Ontology

Human Disease ( DOID:0110938 )

Relationships

is a type of: autosomal dominant disease osteopetrosis spinal disease

autosomal dominant disease osteopetrosis spinal disease Show first 5 Terms
inverse disjoint_from: autosomal dominant osteopetrosis 1

autosomal dominant osteopetrosis 1 Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models