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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 1
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Accession:DOID:0080623 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 homozygous or compound heterozygous mutations in the PEX1 gene on chromosome 7q21. (DO)
Synonyms:exact_synonym: Deafness Enamel Hypoplasia Nail Defects;   HMLR1;   Hearing Loss, Sensorineural, With Enamel Hypoplasia And Nail Defects;   Heimler syndrome;   PBD1C;   PEROXISOME BIOGENESIS DISORDER 1C;   bilateral sensorineural hearing loss, enamel hypoplasia and nail defects;   peroxisomal biogenesis disorder 1C;   sensorineural hearing loss, enamel hypoplasia, and nail abnormalities
 broad_synonym: Deafness-enamel hypoplasia-nail defects syndrome
 primary_id: MESH:C535994
 alt_id: OMIM:234580
For additional species annotation, visit the Alliance of Genome Resources.


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Heimler syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gatad1 GATA zinc finger domain containing 1 ISO ClinVar Annotator: match by term: Deafness enamel hypoplasia nail defects ClinVar PMID:12402331, PMID:16086329, PMID:16088892, PMID:19105186, PMID:25525159, PMID:25741868, PMID:26387595, PMID:27302843, PMID:28492532, PMID:30733538, PMID:31374812, PMID:31831025 NCBI chr 4:27,647,005...27,658,533
Ensembl chr 4:27,647,335...27,657,167
JBrowse link
G Pex1 peroxisomal biogenesis factor 1 ISO ClinVar Annotator: match by term: Deafness enamel hypoplasia nail defects
ClinVar Annotator: match by term: Sensorineural hearing loss, enamel hypoplasia, and nail abnormalities
ClinVar
OMIM
PMID:1301993, PMID:2063923, PMID:9398847, PMID:9398848, PMID:10384394, PMID:10447258, PMID:10480353, PMID:11389485, PMID:12032265, PMID:12402331, PMID:15098231, PMID:15542397, PMID:16086329, PMID:16088892, PMID:16141001, PMID:17055079, PMID:19105186, PMID:20952722, PMID:21031596, PMID:21846392, PMID:22871920, PMID:23757202, PMID:24503136, PMID:25412400, PMID:25525159, PMID:25741868, PMID:26219880, PMID:26287655, PMID:26387595, PMID:26643206, PMID:27090541, PMID:27302843, PMID:27872819, PMID:27882258, PMID:28468868, PMID:28492532, PMID:30311386, PMID:30733538, PMID:31374812, PMID:31831025 NCBI chr 4:27,659,376...27,698,037
Ensembl chr 4:27,659,381...27,698,037
JBrowse link
G Pex6 peroxisomal biogenesis factor 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:16,568,743...16,580,900
Ensembl chr 9:16,566,688...16,581,078
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    Pathological Conditions, Signs and Symptoms 8723
      Anatomical Pathological Conditions 1524
        Malformed Nails 21
          Heimler syndrome 1 3
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        sensory system disease 5162
          mouth disease 750
            tooth disease 279
              teeth hard tissue disease 63
                dental enamel hypoplasia 55
                  amelogenesis imperfecta 52
                    Heimler syndrome 1 3
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.