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Human Disease

Heimler syndrome 2

Term ID
DOID:0080624
Synonyms
  • peroxisomal biogenesis disorder 4C
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. https://www.ncbi.nlm.nih.gov/pubmed/16530715
References
Ontology
Human Disease   ( DOID:0080624 )
Relationships
is a type of
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Genes Involved
Zebrafish Models