OBO ID: DOID:0110941
Term Name: autosomal recessive osteopetrosis 3 Search Ontology:
Synonyms:
  • autosomal recessive osteopetrosis 3 with renal tubular acidosis
  • carbonic anhydrase II deficiency
  • Guibaud-Vainsel syndrome
  • marble brain disease
  • OPTB3
  • osteopetrosis with renal tubular acidosis
Definition: An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the CA2 gene on chromosome 8q21. https://www.ncbi.nlm.nih.gov/pubmed/1928091
References:
Ontology: Human Disease   ( DOID:0110941 )
OTHER autosomal recessive osteopetrosis 3 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CA2 Osteopetrosis, autosomal recessive 3, with renal tubular acidosis 259730
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None