OBO ID: DOID:0080624
Term Name: Heimler syndrome 2 Search Ontology:
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 )
OTHER Heimler syndrome 2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PEX6 Heimler syndrome 2 616617
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None