Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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 1
go back to main search page
Accession:DOID:0110942 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 TCIRG1 gene on chromosome 11q13.2. (DO)
Synonyms:exact_synonym: Albers-Schonberg Disease, Autosomal Recessive;   Marble Bones, Autosomal Recessive;   OPTB1;   Osteopetrosis, Infantile Malignant 1
 primary_id: MESH:C564915
 alt_id: OMIM:259700;   RDO:0013715
 xref: GARD:2579;   NCI:C167215
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
autosomal recessive osteopetrosis 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc154 coiled-coil domain containing 154 ISS OMIM:259700 MouseDO NCBI chr10:14,518,240...14,529,920
Ensembl chr10:14,519,164...14,528,277
JBrowse link
G Tcirg1 T-cell immune regulator 1, ATPase H+ transporting V0 subunit A3 ISO DNA:deletions, snps:exons:multiple (human)
ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 1
ClinVar Annotator: match by term: Osteopetrosis autosomal recessive 1
ClinVar Annotator: match by OMIM:259700
ClinVar
OMIM
PMID:9506970, PMID:10888887, PMID:10942435, PMID:11532986, PMID:12507890, PMID:12552563, PMID:12566520, PMID:14675409, PMID:15300850, PMID:18715141, PMID:19448635, PMID:19507210, PMID:20424301, PMID:21042819, PMID:22231430, PMID:23412864, PMID:23721911, PMID:24033266, PMID:24101165, PMID:24535484, PMID:24753205, PMID:24989235, PMID:25018813, PMID:25326635, PMID:25525159, PMID:25741868, PMID:25829125, PMID:26264438, PMID:26777052, PMID:27229898, PMID:28492532, PMID:28604959, PMID:30311386, PMID:30431110, PMID:30539151, PMID:31949762, PMID:10888887 RGD:1599350 NCBI chr 1:219,126,687...219,139,466
Ensembl chr 1:219,127,602...219,139,464
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      bone development disease 1335
        osteochondrodysplasia 445
          osteosclerosis 44
            osteopetrosis 26
              autosomal recessive osteopetrosis 1 2
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      musculoskeletal system disease 5739
        connective tissue disease 4099
          bone disease 3528
            bone development disease 1335
              osteochondrodysplasia 445
                osteosclerosis 44
                  osteopetrosis 26
                    autosomal recessive osteopetrosis 1 2
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.