autosomal recessive osteopetrosis 1

Summary

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

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

: ostm1, clcn7, tcirg1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0009815 - autosomal recessive osteopetrosis 1

MONDO:0009815 - autosomal recessive osteopetrosis 1

Other Model Organisms: AGR, 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)