FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
Help Close All Open All
General Information
Term Heimler syndrome 2 ID (Ontology) DOID:0080624 (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 compound heterozygous mutation in the PEX6 gene on chromosome 6p21.
Also Known As "peroxisomal biogenesis disorder 4C"
Comment
Links to External Ontologies
DO.org
Annotations
Records annotated with this term OR any of its CHILD TERMS
    Results list data from multiple species. Click on a button above and use the 'Filter by species' options on the resulting HitList to retrieve species-specific data.
Records annotated with this exact term (annotations to child terms are NOT included)
No relevant records available
show Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
 Full annotation statements 
Relevant FlyBase reports
 Genes
 Heimler syndrome 2       1
 for disease ribbon | Heimler syndrome 2       1
 model of | Heimler syndrome 2       1
Spanning Tree (Parents/Children)
Only view relationship: 
autosomal genetic disease
 |__autosomal recessive disease______
peroxisomal disease                  |
 |__peroxisomal biogenesis disorder__|
                                     Heimler syndrome 2  1 rec.
Spanning Tree View Settings
Parents/Children
View Depth
Show hierarchy levels: for parents, for children
hide Relationships
Is a autosomal recessive disease
peroxisomal biogenesis disorder
Part of
hide Synonyms & Secondary IDs
Synonyms
  • "peroxisomal biogenesis disorder 4C" EXACT
Secondary IDs
hide External Crossreferences & Linkouts
MIM:616617