Metadata | |
---|---|
ID | DOID:0110940 |
Name | autosomal recessive osteopetrosis 8 |
Definition | An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the SNX10 gene on chromosome 7p15. https://www.ncbi.nlm.nih.gov/pubmed/22499339 |
Xrefs | |
Synonyms |
OPTB8 [EXACT] |
Parent Relationships |
is_a osteopetrosis |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |