Online Mendelian Inheritance in Man - USHER SYNDROME, TYPE IF - Classes | NCBO OntoPortal Appliance

Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

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Preferred Name	USHER SYNDROME, TYPE IF
Synonyms	USH1F
ID	http://purl.bioontology.org/ontology/OMIM/602083
altLabel	USH1F
cui	C1865885
Gene Locus	10q21-q22
Gene Symbol	DFNB23 USH1F PCDH15
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU029282 http://purl.bioontology.org/ontology/OMIM/MTHU005565 http://purl.bioontology.org/ontology/OMIM/MTHU003954 http://purl.bioontology.org/ontology/OMIM/MTHU029281 http://purl.bioontology.org/ontology/OMIM/MTHU033273 http://purl.bioontology.org/ontology/OMIM/MTHU000322
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	602083
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	USHER SYNDROME, TYPE IF
tui	T047

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/MESH/C566586	Medical Subject Headings	CUI
	http://purl.bioontology.org/ontology/MESH/C566586	Medical Subject Headings	LOOM