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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 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
 primary_id: MESH:C564915
 alt_id: OMIM:259700
 xref: GARD:2579;   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 IAGP OMIM:259700 MouseDO NCBI chr17:25,381,142...25,390,887
Ensembl chr17:25,381,435...25,390,887 		JBrowse link
G Plekhm1 pleckstrin homology domain containing, family M (with RUN domain) member 1 ISO ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 1 ClinVar PMID:35342016 PMID:36195244 NCBI chr11:103,255,101...103,303,531
Ensembl chr11:103,255,101...103,303,513 		JBrowse link
G Tcirg1 T cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein A3 ISO
IAGP		 DNA:deletions, snps:exons:multiple (human)
OMIM:259700
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 1 | ClinVar Annotator: match by term: Marble bones autosomal recessive | ClinVar Annotator: match by term: TCIRG1-related condition		 OMIM
MouseDO
CTD
ClinVar
RGD		 PMID:9506970 PMID:9536098 PMID:10888887 PMID:10942435 PMID:11532986 More... RGD:1599350 NCBI chr19:3,946,050...3,957,717
Ensembl chr19:3,946,050...3,957,133 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16107
    Developmental Disease 13806
      bone development disease 2300
        osteochondrodysplasia 865
          osteosclerosis 54
            osteopetrosis 25
              autosomal recessive osteopetrosis 1 3
Path 2
Term Annotations click to browse term
  disease 16107
    disease of anatomical entity 15663
      musculoskeletal system disease 7968
        connective tissue disease 5422
          bone disease 3931
            bone development disease 2300
              osteochondrodysplasia 865
                osteosclerosis 54
                  osteopetrosis 25
                    autosomal recessive osteopetrosis 1 3
paths to the root