autosomal recessive osteopetrosis 4
Information
- Disease name
- autosomal recessive osteopetrosis 4
- Disease ID
- DOID:0110944
- Description
- "An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the CLCN7 gene on chromosome 16p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11207362]
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:5993
- Cross Reference ID (Disease Ontology)
- MIM:611490
- Exact Synonym (Disease Ontology)
- infantile malignant osteopetrosis 2
- Exact Synonym (Disease Ontology)
- OPTB4