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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:Heimler syndrome 2
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Accession:DOID:0080624 term browser browse the term
Definition:A peroxisomal biogenesis disorder that is characterised by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition, and nail defects and has_material_basis_in compound heterozygous mutation in the PEX6 gene on chromosome 6p21. (DO)
Synonyms:exact_synonym: HMLR2;   PBD4C;   peroxisomal biogenesis disorder 4C;   peroxisome biogenesis disorder 4C
 primary_id: OMIM:616617
For additional species annotation, visit the Alliance of Genome Resources.



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Heimler syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pex6 peroxisomal biogenesis factor 6 ISO ClinVar Annotator: match by term: Heimler syndrome 2 | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 4C OMIM
ClinVar
PMID:8670792 PMID:11873320 PMID:15542397 PMID:16530715 PMID:19105186 More... NCBI chr 9:14,258,145...14,270,335
Ensembl chr 9:14,258,145...14,270,303
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18154
    Nutritional and Metabolic Diseases 6769
      disease of metabolism 6769
        inherited metabolic disorder 4673
          peroxisomal disease 271
            peroxisomal biogenesis disorder 199
              Heimler syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 18154
    Developmental Disease 12988
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11719
        genetic disease 11226
          monogenic disease 8779
            autosomal genetic disease 7817
              autosomal recessive disease 4835
                Heimler syndrome 2 1
paths to the root