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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 characterized 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: MIM:616617


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Path 1
Term Annotations click to browse term
  disease 19099
    Nutritional and Metabolic Diseases 8516
      disease of metabolism 8516
        inherited metabolic disorder 6602
          peroxisomal disease 371
            peroxisomal biogenesis disorder 268
              Heimler syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 19099
    Developmental Disease 14598
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13610
        genetic disease 13271
          monogenic disease 10820
            autosomal genetic disease 10300
              autosomal recessive disease 6942
                Heimler syndrome 2 1
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