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autosomal recessive osteopetrosis 5

http://purl.obolibrary.org/obo/DOID_0110939

An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the OSTM1 gene on chromosome 6q21. [ http://purl.obolibrary.org/obo/ECO_0007645 ]

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Term info

Label

autosomal recessive osteopetrosis 5

Synonyms

OPTB5
infantile malignant osteopetrosis 3

database cross reference

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disease_ontology

DOID:0110939

Term relations

Subclass of:

autosomal recessive disease
osteopetrosis
has material basis in some autosomal recessive inheritance