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Echinobase
Summary Literature (0)
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


OMIM:
MIM:611490 - osteopetrosis, autosomal recessive 4; optb4

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): osteopetrosis (is_a)