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 7 ID (Ontology) DOID:0110946 (Human Disease)
Definition An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the TNFRSF11A gene on chromosome 18q21.
Also Known As "autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia" ; "autosomal recessive osteopetrosis type 7" ; "OPTB7" (for all, see Synonyms field below)
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autosomal genetic disease
 |__autosomal recessive disease__
osteosclerosis                   |
 |__osteopetrosis________________|
                                 autosomal recessive osteopetrosis 7
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Is a autosomal recessive disease
osteopetrosis
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Synonyms
  • "autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia" EXACT
    "autosomal recessive osteopetrosis type 7" EXACT
    "OPTB7" EXACT OMO:0003012
    "osteoclast-poor osteopetrosis with hypogammaglobulinemia" EXACT
    "osteopetrosis-hypogammaglobulinemia syndrome" EXACT
Secondary IDs
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GARD:10106
ICD10CM:Q78.2
MIM:612301
ORDO:178389