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Disease Ontology Browser
Heimler syndrome 1 (DOID:0080623)
Alliance: disease page
Synonyms: Deafness-enamel hypoplasia-nail defects syndrome; peroxisomal biogenesis disorder 1C
Alt IDs: OMIM:234580
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.

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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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory