Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

INFANTILE SIALIC ACID STORAGE DISEASE
Synonyms

N-ACETYLNEURAMINIC ACID STORAGE DISEASE
ID

http://purl.bioontology.org/ontology/OMIM/269920
altLabel

N-ACETYLNEURAMINIC ACID STORAGE DISEASE

NANA STORAGE DISEASE

ISSD

SIALURIA, INFANTILE FORM

NSD
cui

C2930923

C1096902
Gene Locus

6q14-q15
Gene Symbol

SLC17A5

SIASD

SLD
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU009475

http://purl.bioontology.org/ontology/OMIM/MTHU000235

http://purl.bioontology.org/ontology/OMIM/MTHU000509

http://purl.bioontology.org/ontology/OMIM/MTHU000512

http://purl.bioontology.org/ontology/OMIM/MTHU009467

http://purl.bioontology.org/ontology/OMIM/MTHU000081

http://purl.bioontology.org/ontology/OMIM/MTHU009459

http://purl.bioontology.org/ontology/OMIM/MTHU036764

http://purl.bioontology.org/ontology/OMIM/MTHU005330

http://purl.bioontology.org/ontology/OMIM/MTHU028583

http://purl.bioontology.org/ontology/OMIM/MTHU009464

http://purl.bioontology.org/ontology/OMIM/MTHU009462

http://purl.bioontology.org/ontology/OMIM/MTHU009469

http://purl.bioontology.org/ontology/OMIM/MTHU009472

http://purl.bioontology.org/ontology/OMIM/MTHU009470

http://purl.bioontology.org/ontology/OMIM/MTHU009460

http://purl.bioontology.org/ontology/OMIM/MTHU009466

http://purl.bioontology.org/ontology/OMIM/MTHU037219

http://purl.bioontology.org/ontology/OMIM/MTHU001744

http://purl.bioontology.org/ontology/OMIM/MTHU004559

http://purl.bioontology.org/ontology/OMIM/MTHU003641

http://purl.bioontology.org/ontology/OMIM/MTHU036371

http://purl.bioontology.org/ontology/OMIM/MTHU028584

http://purl.bioontology.org/ontology/OMIM/MTHU000242

http://purl.bioontology.org/ontology/OMIM/MTHU002595

http://purl.bioontology.org/ontology/OMIM/MTHU036393

http://purl.bioontology.org/ontology/OMIM/MTHU000185

http://purl.bioontology.org/ontology/OMIM/MTHU009461

http://purl.bioontology.org/ontology/OMIM/MTHU009468

http://purl.bioontology.org/ontology/OMIM/MTHU002499

http://purl.bioontology.org/ontology/OMIM/MTHU000031

http://purl.bioontology.org/ontology/OMIM/MTHU000199

http://purl.bioontology.org/ontology/OMIM/MTHU000094

http://purl.bioontology.org/ontology/OMIM/MTHU000197

http://purl.bioontology.org/ontology/OMIM/MTHU009471

http://purl.bioontology.org/ontology/OMIM/MTHU009465

http://purl.bioontology.org/ontology/OMIM/MTHU009463
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

269920
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

INFANTILE SIALIC ACID STORAGE DISEASE
tui

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/D029461 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C535525 Medical Subject Headings CUI