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DOID:0110944 - autosomal recessive osteopetrosis 4
Disease Ontology 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.
Synonyms: OPTB4, infantile malignant osteopetrosis 2,
Echinobase Genes : clcn7
MIM:611490 - osteopetrosis, autosomal recessive 4; optb4 |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
osteopetrosis (is_a)