OBO ID: DOID:0110946
Term Name: autosomal recessive osteopetrosis 7 Search Ontology:
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 )
OTHER autosomal recessive osteopetrosis 7 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TNFRSF11A Osteopetrosis, autosomal recessive 7 612301
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None