Online Mendelian Inheritance in Man - NEURAMINIDASE DEFICIENCY - Classes | NCBO OntoPortal Appliance

Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

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Preferred Name	NEURAMINIDASE DEFICIENCY
Synonyms	LIPOMUCOPOLYSACCHARIDOSIS
ID	http://purl.bioontology.org/ontology/OMIM/256550
altLabel	LIPOMUCOPOLYSACCHARIDOSIS NEU DEFICIENCY NEUG DEFICIENCY SIALIDOSIS, TYPE II MYOCLONUS--CHERRY RED SPOT SYNDROME NEU1 DEFICIENCY SIALIDASE DEFICIENCY CHERRY RED SPOT--MYOCLONUS SYNDROME ML I GLYCOPROTEIN NEURAMINIDASE DEFICIENCY SIALIDOSIS, TYPE I MUCOLIPIDOSIS I NEURAMINIDASE 1 DEFICIENCY
cui	C4282398 C0023806 C0268226 C0268228 C3888317
Gene Locus	6p21.3
Gene Symbol	SIAL1 NEU NEU1
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU023091 http://purl.bioontology.org/ontology/OMIM/MTHU023107 http://purl.bioontology.org/ontology/OMIM/MTHU023105 http://purl.bioontology.org/ontology/OMIM/MTHU023103 http://purl.bioontology.org/ontology/OMIM/MTHU023109 http://purl.bioontology.org/ontology/OMIM/MTHU023101 http://purl.bioontology.org/ontology/OMIM/MTHU023099 http://purl.bioontology.org/ontology/OMIM/MTHU032423 http://purl.bioontology.org/ontology/OMIM/MTHU023113 http://purl.bioontology.org/ontology/OMIM/MTHU023084 http://purl.bioontology.org/ontology/OMIM/MTHU023078 http://purl.bioontology.org/ontology/OMIM/MTHU023076 http://purl.bioontology.org/ontology/OMIM/MTHU023086 http://purl.bioontology.org/ontology/OMIM/MTHU023094 http://purl.bioontology.org/ontology/OMIM/MTHU023082 http://purl.bioontology.org/ontology/OMIM/MTHU023088 http://purl.bioontology.org/ontology/OMIM/MTHU023102 http://purl.bioontology.org/ontology/OMIM/MTHU023080 http://purl.bioontology.org/ontology/OMIM/MTHU023104 http://purl.bioontology.org/ontology/OMIM/MTHU023098 http://purl.bioontology.org/ontology/OMIM/MTHU023092 http://purl.bioontology.org/ontology/OMIM/MTHU023090 http://purl.bioontology.org/ontology/OMIM/MTHU023096 http://purl.bioontology.org/ontology/OMIM/MTHU023108 http://purl.bioontology.org/ontology/OMIM/MTHU028422 http://purl.bioontology.org/ontology/OMIM/MTHU023112 http://purl.bioontology.org/ontology/OMIM/MTHU023100 http://purl.bioontology.org/ontology/OMIM/MTHU023106 http://purl.bioontology.org/ontology/OMIM/MTHU023110 http://purl.bioontology.org/ontology/OMIM/MTHU023077 http://purl.bioontology.org/ontology/OMIM/MTHU023087 http://purl.bioontology.org/ontology/OMIM/MTHU023081 http://purl.bioontology.org/ontology/OMIM/MTHU023085 http://purl.bioontology.org/ontology/OMIM/MTHU023079 http://purl.bioontology.org/ontology/OMIM/MTHU023097 http://purl.bioontology.org/ontology/OMIM/MTHU023095 http://purl.bioontology.org/ontology/OMIM/MTHU023083 http://purl.bioontology.org/ontology/OMIM/MTHU023089
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	256550
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	NEURAMINIDASE DEFICIENCY
tui	T047

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/ICD10CM/E77.1	International Classification of Diseases, Version 10 - Clinical Modification	CUI
	http://purl.bioontology.org/ontology/MESH/D009081	Medical Subject Headings	CUI
	http://purl.bioontology.org/ontology/MESH/D009081	Medical Subject Headings	CUI
	http://purl.bioontology.org/ontology/MESH/C537366	Medical Subject Headings	CUI
	http://purl.bioontology.org/ontology/MESH/C537366	Medical Subject Headings	CUI
	http://purl.bioontology.org/ontology/MESH/C537366	Medical Subject Headings	CUI
	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C125596	National Cancer Institute Thesaurus	LOOM