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Metadata
ID	DOID:0080623
Name	Heimler syndrome 1
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. https://www.ncbi.nlm.nih.gov/pubmed/26387595
Xrefs	MIM:234580
Synonyms	peroxisomal biogenesis disorder 1C [EXACT]
Parent Relationships	is_a peroxisomal biogenesis disorder is_a autosomal recessive disease
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance