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Disease Ontology Browser
Heimler syndrome 2 (DOID:0080624)
Alliance: disease page
Synonyms: peroxisomal biogenesis disorder 4C
Alt IDs: OMIM:616617
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.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
05/26/2020
MGI 6.15
The Jackson Laboratory