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RGD uses the Human Disease Ontology (DO, for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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
 primary_id: MESH:C536058
 alt_id: OMIM:259730
 xref: GARD:4154;   NCI:C118438
For additional species annotation, visit the Alliance of Genome Resources.

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autosomal recessive osteopetrosis 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Car2 carbonic anhydrase 2 ISO ClinVar Annotator: match by OMIM:259730
ClinVar Annotator: match by null
ClinVar Annotator: match by term: Osteopetrosis with renal tubular acidosis
PMID:1301935 PMID:1542674 PMID:1928091 PMID:4624444 PMID:5041390 PMID:7627193 PMID:8127074 PMID:8128957 PMID:8834238 PMID:12566520 PMID:18060825 PMID:25741868 PMID:28492532 NCBI chr 2:88,097,740...88,112,868
Ensembl chr 2:88,097,720...88,113,029
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    Nutritional and Metabolic Diseases 4704
      disease of metabolism 4704
        Metabolic Brain Diseases 579
          Metabolic Brain Diseases, Inborn 509
            urea cycle disorder 44
              autosomal recessive osteopetrosis 3 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      Skin and Connective Tissue Diseases 5431
        connective tissue disease 4137
          bone disease 3507
            bone development disease 1307
              osteochondrodysplasia 441
                osteosclerosis 42
                  osteopetrosis 26
                    autosomal recessive osteopetrosis 3 1
paths to the root