ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal recessive osteopetrosis 3
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Accession:DOID:0110941 term browser browse the term
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. (DO)
Synonyms:exact_synonym: Guibaud Vainsel syndrome;   Marble brain disease;   OPTB3;   autosomal recessive osteopetrosis 3 with renal tubular acidosis;   carbonic anhydrase 2 deficiency;   carbonic anhydrase II deficiency;   osteopetrosis with renal tubular acidosis
 related_synonym: CARBONIC ANHYDRASE II VARIANT
 primary_id: MESH:C536058
 alt_id: OMIM:259730;   RDO:0001474
 xref: GARD:4154
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autosomal recessive osteopetrosis 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Car2 carbonic anhydrase 2 JBrowse link 2 88,097,740 88,112,868 RGD:7240710
RGD:8554872

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Term Annotations click to browse term
  disease 14875
    Nutritional and Metabolic Diseases 4249
      disease of metabolism 4249
        Metabolic Brain Diseases 441
          Metabolic Brain Diseases, Inborn 385
            urea cycle disorder 17
              autosomal recessive osteopetrosis 3 1
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      Skin and Connective Tissue Diseases 3903
        connective tissue disease 2572
          bone disease 2118
            bone development disease 891
              osteochondrodysplasia 403
                osteosclerosis 42
                  osteopetrosis 26
                    autosomal recessive osteopetrosis 3 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.