autosomal recessive osteopetrosis 1

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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,

Echinobase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

OMIM:

MIM:259700 - osteopetrosis, autosomal recessive 1; optb1

MIM:259700 - osteopetrosis, autosomal recessive 1; optb1

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), osteopetrosis (is_a)