Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024

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	GJB2 BAPS PPK DFNA3A CX26 HID KID DFNB1A
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU029315 http://purl.bioontology.org/ontology/OMIM/MTHU037418 http://purl.bioontology.org/ontology/OMIM/MTHU029316 http://purl.bioontology.org/ontology/OMIM/MTHU029314 http://purl.bioontology.org/ontology/OMIM/MTHU000129 http://purl.bioontology.org/ontology/OMIM/MTHU001254 http://purl.bioontology.org/ontology/OMIM/MTHU025507 http://purl.bioontology.org/ontology/OMIM/MTHU000702 http://purl.bioontology.org/ontology/OMIM/MTHU029317 http://purl.bioontology.org/ontology/OMIM/MTHU000335 http://purl.bioontology.org/ontology/OMIM/MTHU002945 http://purl.bioontology.org/ontology/OMIM/MTHU002736
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	602540
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
Scope Statement	Caused by mutation in the connexin 26 gene (GJB2, 121011.0020) [MOLECULAR BASIS] Allelic to KID syndrome (148210), DFNA3 (601544), DFNB1 (220290), Vohwinkel syndrome (124500), keratoderma, palmoplantar with deafness (148350) [MISCELLANEOUS] Onset in first year of life [MISCELLANEOUS] KID syndrome and HID syndrome are identical at the molecular level [MISCELLANEOUS]
tui	T047

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