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autosomal recessive osteopetrosis 3 - Ontology Report - Rat Genome Database

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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
 broad_synonym: CA2-related condition
 related_synonym: CARBONIC ANHYDRASE II VARIANT
 xref: GARD:4154;   MESH:C536058;   MIM:259730;   MONDO:0009818;   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 N Ca2 carbonic anhydrase 2 ISO ClinVar Annotator: match by term: CA2-related condition | ClinVar Annotator: match by term: Osteopetrosis with renal tubular acidosis OMIM
ClinVar		 PMID:1301935 PMID:1542674 PMID:1928091 PMID:4624444 PMID:5041390 More... NCBI chrNW_004624744:6,168,030...6,183,407
Ensembl chrNW_004624744:6,167,606...6,183,538 		JBrowse link
G G CA2 carbonic anhydrase 2 ISO ClinVar Annotator: match by term: CA2-related condition | 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 8:80,830,963...80,848,245
Ensembl chr 8:80,830,939...80,848,707 		JBrowse link
G P CA2 carbonic anhydrase 2 ISO ClinVar Annotator: match by term: CA2-related condition | 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 4:51,194,686...51,211,436
Ensembl chr 4:51,193,756...51,211,259 		JBrowse link
G S Ca2 carbonic anhydrase 2 ISO ClinVar Annotator: match by term: CA2-related condition | ClinVar Annotator: match by term: Osteopetrosis with renal tubular acidosis OMIM
ClinVar		 PMID:1301935 PMID:1542674 PMID:1928091 PMID:4624444 PMID:5041390 More... NCBI chrNW_004936544:362,591...379,151
Ensembl chrNW_004936544:362,591...380,223 		JBrowse link
G D CA2 carbonic anhydrase 2 ISO ClinVar Annotator: match by term: CA2-related condition | ClinVar Annotator: match by term: Osteopetrosis with renal tubular acidosis OMIM
ClinVar		 PMID:1301935 PMID:1542674 PMID:1928091 PMID:4624444 PMID:5041390 More... NCBI chr29:31,959,225...31,975,309
Ensembl chr29:31,935,172...31,980,579 		JBrowse link
G B CA2 carbonic anhydrase 2 ISO ClinVar Annotator: match by term: CA2-related condition | 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 8:81,991,037...82,009,010
Ensembl chr 8:83,597,440...83,632,580 		JBrowse link
G C Ca2 carbonic anhydrase 2 ISO ClinVar Annotator: match by term: CA2-related condition | ClinVar Annotator: match by term: Osteopetrosis with renal tubular acidosis OMIM
ClinVar		 PMID:1301935 PMID:1542674 PMID:1928091 PMID:4624444 PMID:5041390 More... NCBI chrNW_004955417:3,388,110...3,402,798
Ensembl chrNW_004955417:3,386,087...3,402,363 		JBrowse link
G H CA2 carbonic anhydrase 2 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Osteopetrosis with renal tubular acidosis
ClinVar Annotator: match by term: CA2-related condition | ClinVar Annotator: match by term: Osteopetrosis with renal tubular acidosis
OMIM:259730
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:1301935 PMID:1542674 PMID:1928091 PMID:4624444 PMID:5041390 More... NCBI chr 8:85,464,007...85,481,493
Ensembl chr 8:85,463,968...85,481,493 		JBrowse link
G H CA3-AS1 CA3 antisense RNA 1 IAGP ClinVar Annotator: match by term: Osteopetrosis with renal tubular acidosis ClinVar PMID:25741868 NCBI chr 8:85,441,806...85,464,915
Ensembl chr 8:85,440,537...85,469,968 		JBrowse link
G R Car2 carbonic anhydrase 2 ISO
ISS		 ClinVar Annotator: match by term: CA2-related condition | ClinVar Annotator: match by term: Osteopetrosis with renal tubular acidosis
OMIM:259730
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:1301935 PMID:1542674 PMID:1928091 PMID:4624444 PMID:5041390 More... NCBI chr 2:88,462,883...88,478,012
Ensembl chr 2:86,741,626...86,756,818 		JBrowse link
G M Car2 carbonic anhydrase 2 ISO
IAGP		 ClinVar Annotator: match by term: CA2-related condition | 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 3:14,951,329...14,965,830
Ensembl chr 3:14,951,333...14,965,830 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    Nutritional and Metabolic Diseases 94048
      disease of metabolism 94048
        inherited metabolic disorder 74830
          amino acid metabolic disorder 15892
            urea cycle disorder 846
              autosomal recessive osteopetrosis 3 11
Path 2
Term Annotations click to browse term
  disease 288179
    disease of anatomical entity 271815
      musculoskeletal system disease 96321
        connective tissue disease 68438
          bone disease 49930
            bone development disease 24312
              osteochondrodysplasia 9137
                osteosclerosis 608
                  osteopetrosis 261
                    autosomal recessive osteopetrosis 3 11
paths to the root