Search Ontology:
Human Disease

autosomal recessive osteopetrosis 7

Term ID
DOID:0110946
Synonyms
  • autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia
  • autosomal recessive osteopetrosis type 7
  • OPTB7
  • osteoclast-poor osteopetrosis with hypogammaglobulinemia
  • osteopetrosis-hypogammaglobulinemia syndrome
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. https://www.ncbi.nlm.nih.gov/pubmed/18606301
References
Ontology
Human Disease   ( DOID:0110946 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models