autosomal dominant osteopetrosis 2
Information
- Disease name
- autosomal dominant osteopetrosis 2
- Disease ID
- DOID:0110938
- Description
- "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." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11741829, url:https\://www.ncbi.nlm.nih.gov/pubmed/3588909]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:13533
- Cross Reference ID (Disease Ontology)
- GARD:383
- Cross Reference ID (Disease Ontology)
- MESH:D010022
- Cross Reference ID (Disease Ontology)
- MIM:166600
- Cross Reference ID (Disease Ontology)
- ORDO:53
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:725050005
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C3179239
- Exact Synonym (Disease Ontology)
- Albers-Schonberg osteopetrosis
- Exact Synonym (Disease Ontology)
- autosomal dominant Albers-Schonberg disease
- Exact Synonym (Disease Ontology)
- autosomal dominant osteopetrosis type II
- Exact Synonym (Disease Ontology)
- OPTA2
- Exact Synonym (Disease Ontology)
- osteopetrosis autosomal dominant type 2