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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 4
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Accession:DOID:0110944 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 CLCN7 gene on chromosome 16p13. (DO)
Synonyms:exact_synonym: OPTB4;   Osteopetrosis, Infantile Malignant 2
 primary_id: MESH:C566933
 alt_id: OMIM:611490;   RDO:0009529;   RDO:0015141
 xref: GARD:5993
For additional species annotation, visit the Alliance of Genome Resources.


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autosomal recessive osteopetrosis 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn7 chloride voltage-gated channel 7 ISO ClinVar Annotator: match by OMIM:611490
ClinVar Annotator: match by term: Osteopetrosis autosomal recessive 4
OMIM
ClinVar
PMID:1516225 PMID:11207362 PMID:11468688 PMID:11741829 PMID:17033731 PMID:23296056 PMID:25741868 PMID:199553639 NCBI chr10:14,492,844...14,518,167
Ensembl chr10:14,492,844...14,516,894
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      bone development disease 1344
        osteochondrodysplasia 449
          osteosclerosis 42
            osteopetrosis 26
              autosomal recessive osteopetrosis 4 1
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      musculoskeletal system disease 5799
        connective tissue disease 4166
          bone disease 3538
            bone development disease 1344
              osteochondrodysplasia 449
                osteosclerosis 42
                  osteopetrosis 26
                    autosomal recessive osteopetrosis 4 1
paths to the root