FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term autosomal recessive osteopetrosis 5 ID (Ontology) DOID:0110939 (Human Disease)
Definition An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the OSTM1 gene on chromosome 6q21.
Also Known As "infantile malignant osteopetrosis 3" ; "OPTB5"
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 Genes
 autosomal recessive osteopetrosis 5       1
 for disease ribbon | autosomal recessive osteopetrosis 5       1
 model of | autosomal recessive osteopetrosis 5       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
osteosclerosis                   |
 |__osteopetrosis________________|
                                 autosomal recessive osteopetrosis 5  1 rec.
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Is a autosomal recessive disease
osteopetrosis
Part of
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Synonyms
  • "infantile malignant osteopetrosis 3" EXACT
    "OPTB5" EXACT OMO:0003012
Secondary IDs
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GARD:4153
MIM:259720