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Pathways

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
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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;   TCIRG1-RELATED CONDITION;   infantile malignant osteopetrosis 1
 xref: GARD:2579;   MESH:C564915;   MIM:259700;   MONDO:0009815;   NCI:C167215



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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 chr10:14,681,938...14,691,757
Ensembl chr10:14,681,923...14,691,759
JBrowse link
G Plekhm1 pleckstrin homology and RUN domain containing M1 ISO ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 1 ClinVar PMID:35342016 PMID:36195244 NCBI chr10:88,814,699...88,876,570
Ensembl chr10:88,814,699...88,862,544
JBrowse link
G Tcirg1 T-cell immune regulator 1, ATPase H+ transporting V0 subunit A3 ISO
ISS
DNA:deletions, snps:exons:multiple (human)
CTD Direct Evidence: marker/mechanism
OMIM:259700
ClinVar Annotator: match by term: ALBERS-SCHONBERG DISEASE, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 1 | ClinVar Annotator: match by term: TCIRG1-related condition
OMIM
CTD
MouseDO
ClinVar
RGD
PMID:9506970 PMID:9536098 PMID:10888887 PMID:10942435 PMID:11532986 More... RGD:1599350 NCBI chr 1:210,556,270...210,568,021
Ensembl chr 1:210,556,270...210,568,033
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13780
        genetic disease 13401
          monogenic disease 10835
            autosomal genetic disease 10302
              autosomal recessive disease 7090
                autosomal recessive osteopetrosis 1 3
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      musculoskeletal system disease 8492
        connective tissue disease 5948
          bone disease 4398
            bone remodeling disease 512
              osteosclerosis 62
                osteopetrosis 31
                  autosomal recessive osteopetrosis 1 3
paths to the root