Search Ontology:
Human Disease
autosomal recessive osteopetrosis 4
- Term ID
- DOID:0110944
- Synonyms
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- infantile malignant osteopetrosis 2
- OPTB4
- Definition
- An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the CLCN7 gene on chromosome 16p13. https://www.ncbi.nlm.nih.gov/pubmed/11207362
- References
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- GARD:5993
- MIM:611490
- Ontology
- Human Disease ( DOID:0110944 )
- is a type of
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Genes Involved
Zebrafish Models