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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:peroxisome biogenesis disorder 14B
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Accession:DOID:0081274 term browser browse the term
Definition:A peroxisome biogenesis disorder that is characterized clinically by mild intellectual disability, congenital cataracts, progressive hearing loss, and polyneuropathy and that has_material_basis_in homozygous mutation in the PEX11B gene on chromosome 1q21. (DO)
Synonyms:exact_synonym: PEX11B-RELATED CONDITION;   PEX14B
 primary_id: OMIM:614920
 alt_id: DOID:9002681


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peroxisome biogenesis disorder 14B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pex11b peroxisomal biogenesis factor 11 beta ISO ClinVar Annotator: match by term: PEX11B-related condition | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 14B
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:10704444 PMID:20826455 PMID:22581968 PMID:25741868 PMID:28129423 More... NCBI chr 2:184,172,041...184,180,972
Ensembl chr 2:184,172,004...184,181,495 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        genetic disease 13036
          monogenic disease 10421
            autosomal genetic disease 9578
              autosomal recessive disease 6657
                peroxisome biogenesis disorder 14B 1
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        genetic disease 13036
          inherited metabolic disorder 6256
            peroxisomal disease 346
              peroxisomal biogenesis disorder 252
                Peroxisome Biogenesis Disorder, Complementation Group 14 1
                  peroxisome biogenesis disorder 14B 1
paths to the root