ZFIN Human Disease: Heimler syndrome 1

OBO ID: DOID:0080623

Term Name:	Heimler syndrome 1		Search Ontology:
Synonyms:	Deafness-enamel hypoplasia-nail defects syndrome peroxisomal biogenesis disorder 1C
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
References:	OMIM:234580
Ontology:	Human Disease ( DOID:0080623 )

Relationships

is a type of:	autosomal recessive disease peroxisomal biogenesis disorder autosomal recessive disease peroxisomal biogenesis disorder Show first 5 Terms

OTHER Heimler syndrome 1 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
PEX1	pex1	Heimler syndrome 1	234580

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None