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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 16108
    Developmental Diseases 9509
      bone development disease 1330
        osteochondrodysplasia 435
          osteosclerosis 44
            osteopetrosis 26
              autosomal recessive osteopetrosis 4 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      musculoskeletal system disease 5715
        connective tissue disease 4073
          bone disease 3528
            bone development disease 1330
              osteochondrodysplasia 435
                osteosclerosis 44
                  osteopetrosis 26
                    autosomal recessive osteopetrosis 4 1
paths to the root

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