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Summary Literature (0)
DOID:0110942 - autosomal recessive osteopetrosis 1


Disease Ontology Definition:An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the TCIRG1 gene on chromosome 11q13.2.

Synonyms: OPTB1, autosomal recessive Albers-Schonberg disease, infantile malignant osteopetrosis 1

Xenbase Genes : ostm1, clcn7, tcirg1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0009815 - autosomal recessive osteopetrosis 1

OMIM:
OMIM:259700 - OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1; OPTB1

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

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