Human Disease Ontology 123

Last uploaded: September 28, 2023

Preferred Name	Heimler syndrome 1
Synonyms	peroxisomal biogenesis disorder 1C Deafness-enamel hypoplasia-nail defects syndrome
Definitions	A peroxisomal biogenesis disorder that is characterised 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.
ID	http://purl.obolibrary.org/obo/DOID_0080623
database_cross_reference	OMIM:234580
definition	A peroxisomal biogenesis disorder that is characterised 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.
has exact synonym	peroxisomal biogenesis disorder 1C
has material basis in	http://purl.obolibrary.org/obo/GENO_0000148
has_broad_synonym	Deafness-enamel hypoplasia-nail defects syndrome
has_obo_namespace	disease_ontology
id	DOID:0080623
label	Heimler syndrome 1
notation	DOID:0080623
prefLabel	Heimler syndrome 1
subClassOf	http://purl.obolibrary.org/obo/DOID_0050737 http://purl.obolibrary.org/obo/DOID_0080377

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/OMIM/234580	Online Mendelian Inheritance in Man	LOOM