Heimler syndrome 1

Summary

DOID:0080623 - Heimler syndrome 1

Disease Ontology 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.

Synonyms: Deafness-enamel hypoplasia-nail defects syndrome, peroxisomal biogenesis disorder 1C

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: pex1

MIM:

MIM:234580 - HEIMLER SYNDROME 1; HMLR1

MIM:234580 - HEIMLER SYNDROME 1; HMLR1

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), peroxisomal biogenesis disorder (is_a)