autosomal recessive osteopetrosis 4

Term ID

DOID:0110944

Synonyms

• 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

• GARD:5993
• OMIM:611490

Ontology

Human Disease   ( DOID:0110944 )