Online Mendelian Inheritance in Man - HEIMLER SYNDROME 1 - Classes

Preferred Name	HEIMLER SYNDROME 1
Synonyms	HEARING LOSS, SENSORINEURAL, WITH ENAMEL HYPOPLASIA AND NAIL DEFECTS
ID	http://purl.bioontology.org/ontology/OMIM/234580
altLabel	HEARING LOSS, SENSORINEURAL, WITH ENAMEL HYPOPLASIA AND NAIL DEFECTS PEROXISOME BIOGENESIS DISORDER 1C PBD1C HMLR1
cui	C1856186
Gene Locus	7q21-q22
Gene Symbol	PBD1B PEX1 PBD1A HMLR1 ZWS1
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU048951 http://purl.bioontology.org/ontology/OMIM/MTHU048952 http://purl.bioontology.org/ontology/OMIM/MTHU012527 http://purl.bioontology.org/ontology/OMIM/MTHU012525 http://purl.bioontology.org/ontology/OMIM/MTHU001056 http://purl.bioontology.org/ontology/OMIM/MTHU048950 http://purl.bioontology.org/ontology/OMIM/MTHU012526 http://purl.bioontology.org/ontology/OMIM/MTHU012524
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	234580
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	HEIMLER SYNDROME 1
tui	T047

Delete	Subject	Author	Type	Created
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Delete	Mapping To	Ontology	Source
	http://purl.obolibrary.org/obo/DOID_0080623	Human Disease Ontology 123	LOOM
	http://purl.bioontology.org/ontology/MESH/C535994	Medical Subject Headings	CUI