Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

Preferred Name	KERATODERMA, PALMOPLANTAR, WITH DEAFNESS
ID	http://purl.bioontology.org/ontology/OMIM/148350
cui	C1835672
Gene Locus	13q11-q12
Gene Symbol	DFNB1A HID GJB2 PPK DFNA3A KID CX26
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU027169 http://purl.bioontology.org/ontology/OMIM/MTHU027167 http://purl.bioontology.org/ontology/OMIM/MTHU017596 http://purl.bioontology.org/ontology/OMIM/MTHU013230 http://purl.bioontology.org/ontology/OMIM/MTHU027168
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	148350
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	KERATODERMA, PALMOPLANTAR, WITH DEAFNESS
tui	T047

Delete	Subject	Author	Type	Created
No notes to display

Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/MESH/C536152	Medical Subject Headings	CUI