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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 OMIM:616617
ClinVar Annotator: match by term: Heimler syndrome 2
OMIM
ClinVar
PMID:11873320 PMID:15542397 PMID:16530715 PMID:19105186 PMID:19142205 PMID:19877282 PMID:21031596 PMID:22871920 PMID:24016303 PMID:25079577 PMID:25741868 PMID:26387595 PMID:26593283 PMID:26943801 PMID:27302843 PMID:27848944 PMID:28492532 PMID:29220678 PMID:31831025 NCBI chr 9:16,568,743...16,580,900
Ensembl chr 9:16,566,688...16,581,078
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    Nutritional and Metabolic Diseases 4704
      disease of metabolism 4704
        inherited metabolic disorder 2235
          peroxisomal disease 133
            peroxisomal biogenesis disorder 73
              Heimler syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 16091
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7958
          monogenic disease 5742
            autosomal genetic disease 4757
              autosomal recessive disease 2616
                Heimler syndrome 2 1
paths to the root