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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
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 term: Osteopetrosis with renal tubular acidosis OMIM
ClinVar
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
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18154
    Nutritional and Metabolic Diseases 6769
      disease of metabolism 6769
        Metabolic Brain Diseases 853
          Metabolic Brain Diseases, Inborn 743
            urea cycle disorder 58
              autosomal recessive osteopetrosis 3 1
Path 2
Term Annotations click to browse term
  disease 18154
    disease of anatomical entity 17529
      Skin and Connective Tissue Diseases 6745
        connective tissue disease 5121
          bone disease 3801
            bone development disease 1876
              osteochondrodysplasia 615
                osteosclerosis 47
                  osteopetrosis 26
                    autosomal recessive osteopetrosis 3 1
paths to the root