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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) 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;   OPTB3;   autosomal recessive osteopetrosis 3 with renal tubular acidosis;   carbonic anhydrase 2 deficiency;   carbonic anhydrase II deficiency;   marble brain disease;   osteopetrosis with renal tubular acidosis
 related_synonym: CARBONIC ANHYDRASE II VARIANT
 primary_id: MESH:C536058
 alt_id: OMIM:259730
 xref: GARD:4154;   NCI:C118438


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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
ISS		 ClinVar Annotator: match by term: Osteopetrosis with renal tubular acidosis
CTD Direct Evidence: marker/mechanism
OMIM:259730		 OMIM
ClinVar
CTD
MouseDO		 PMID:1301935 PMID:1542674 PMID:1928091 PMID:4624444 PMID:5041390 More... NCBI chr 2:86,741,625...86,756,766
Ensembl chr 2:86,741,626...86,756,818 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21109
    Nutritional and Metabolic Diseases 8117
      disease of metabolism 8117
        Metabolic Brain Diseases 1455
          Metabolic Brain Diseases, Inborn 1323
            urea cycle disorder 80
              autosomal recessive osteopetrosis 3 1
Path 2
Term Annotations click to browse term
  disease 21109
    disease of anatomical entity 18151
      Skin and Connective Tissue Diseases 7347
        connective tissue disease 5697
          bone disease 4211
            bone development disease 2248
              osteochondrodysplasia 847
                osteosclerosis 55
                  osteopetrosis 27
                    autosomal recessive osteopetrosis 3 1
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