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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;   Peroxisome Biogenesis Disorder 4C;   peroxisomal 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:8670792, PMID:11873320, PMID:15098231, PMID:15098234, PMID:15542397, PMID:16530715, PMID:17055079, 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:30311386, 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 16108
    Nutritional and Metabolic Diseases 4720
      disease of metabolism 4720
        inherited metabolic disorder 2223
          peroxisomal disease 134
            peroxisomal biogenesis disorder 74
              Heimler syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          monogenic disease 5627
            autosomal genetic disease 4631
              autosomal recessive disease 2512
                Heimler syndrome 2 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.