FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Heimler syndrome 1 ID (Ontology) DOID:0080623 (Human Disease)
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 homozygous or compound heterozygous mutations in the PEX1 gene on chromosome 7q21.
Also Known As "peroxisomal biogenesis disorder 1C"
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 Genes
 Heimler syndrome 1       1
 for disease ribbon | Heimler syndrome 1       1
 model of | Heimler syndrome 1       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease______
peroxisomal disease                  |
 |__peroxisomal biogenesis disorder__|
                                     Heimler syndrome 1  1 rec.
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Is a autosomal recessive disease
peroxisomal biogenesis disorder
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Synonyms
  • "Deafness-enamel hypoplasia-nail defects syndrome" BROAD
    "peroxisomal biogenesis disorder 1C" EXACT
Secondary IDs
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MIM:234580