Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

Preferred Name	ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
Synonyms	HID SYNDROME
ID	http://purl.bioontology.org/ontology/OMIM/602540
altLabel	HID SYNDROME
cui	C1865234
Gene Locus	13q11-q12
Gene Symbol	DFNB1A HID GJB2 PPK DFNA3A KID CX26
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU029317 http://purl.bioontology.org/ontology/OMIM/MTHU001254 http://purl.bioontology.org/ontology/OMIM/MTHU002736 http://purl.bioontology.org/ontology/OMIM/MTHU025507 http://purl.bioontology.org/ontology/OMIM/MTHU038577 http://purl.bioontology.org/ontology/OMIM/MTHU000129 http://purl.bioontology.org/ontology/OMIM/MTHU029314 http://purl.bioontology.org/ontology/OMIM/MTHU029316 http://purl.bioontology.org/ontology/OMIM/MTHU000702 http://purl.bioontology.org/ontology/OMIM/MTHU029320 http://purl.bioontology.org/ontology/OMIM/MTHU002945 http://purl.bioontology.org/ontology/OMIM/MTHU003586 http://purl.bioontology.org/ontology/OMIM/MTHU000335 http://purl.bioontology.org/ontology/OMIM/MTHU029315 http://purl.bioontology.org/ontology/OMIM/MTHU037418 http://purl.bioontology.org/ontology/OMIM/MTHU029319
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	602540
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
tui	T047

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/MESH/C566528	Medical Subject Headings	CUI