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DOID:0110940 - autosomal recessive osteopetrosis 8
Disease Ontology Definition:An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the SNX10 gene on chromosome 7p15.
Synonyms: OPTB8,
Echinobase Genes :
MIM:615085 - osteopetrosis, autosomal recessive 8; optb8 |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
osteopetrosis (is_a)