Online Mendelian Inheritance in Man - SALLA DISEASE - Classes | NCBO OntoPortal Appliance

Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

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Preferred Name	SALLA DISEASE
Synonyms	SD
ID	http://purl.bioontology.org/ontology/OMIM/604369
altLabel	SD SIALURIA, FINNISH TYPE
cui	C1096903
Gene Locus	6q14-q15
Gene Symbol	SLC17A5 SIASD SLD
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU004747 http://purl.bioontology.org/ontology/OMIM/MTHU000283 http://purl.bioontology.org/ontology/OMIM/MTHU029396 http://purl.bioontology.org/ontology/OMIM/MTHU004613 http://purl.bioontology.org/ontology/OMIM/MTHU004752 http://purl.bioontology.org/ontology/OMIM/MTHU000235 http://purl.bioontology.org/ontology/OMIM/MTHU000166 http://purl.bioontology.org/ontology/OMIM/MTHU036896 http://purl.bioontology.org/ontology/OMIM/MTHU036349 http://purl.bioontology.org/ontology/OMIM/MTHU003860 http://purl.bioontology.org/ontology/OMIM/MTHU004748 http://purl.bioontology.org/ontology/OMIM/MTHU004746 http://purl.bioontology.org/ontology/OMIM/MTHU000133 http://purl.bioontology.org/ontology/OMIM/MTHU029395 http://purl.bioontology.org/ontology/OMIM/MTHU004753 http://purl.bioontology.org/ontology/OMIM/MTHU004751 http://purl.bioontology.org/ontology/OMIM/MTHU000655 http://purl.bioontology.org/ontology/OMIM/MTHU000300 http://purl.bioontology.org/ontology/OMIM/MTHU000242 http://purl.bioontology.org/ontology/OMIM/MTHU000185 http://purl.bioontology.org/ontology/OMIM/MTHU038657 http://purl.bioontology.org/ontology/OMIM/MTHU000197
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	604369
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	SALLA DISEASE
tui	T047

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/MESH/D029461	Medical Subject Headings	CUI