Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/269920
http://purl.bioontology.org/ontology/OMIM/269920
Preferred Name

INFANTILE SIALIC ACID STORAGE DISEASE
Synonyms
ISSD
NANA STORAGE DISEASE
SIALURIA, INFANTILE FORM
NSD
N-ACETYLNEURAMINIC ACID STORAGE DISEASE
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
ISSD
NANA STORAGE DISEASE
SIALURIA, INFANTILE FORM
NSD
N-ACETYLNEURAMINIC ACID STORAGE DISEASE
prefLabel
INFANTILE SIALIC ACID STORAGE DISEASE
Gene Symbol
SLC17A5
SLD
SIASD
Scope Statement
Allelic to Sialuria, Finnish type (604369) [MISCELLANEOUS]
Caused by mutations in the solute carrier family 17 (sodium phosphate), member 5 gene (SLC17A5, 604322.0002) [MOLECULAR BASIS]
Early death (mean age 13 months) [MISCELLANEOUS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU001744
http://purl.bioontology.org/ontology/OMIM/MTHU009459
http://purl.bioontology.org/ontology/OMIM/MTHU009472
http://purl.bioontology.org/ontology/OMIM/MTHU000197
http://purl.bioontology.org/ontology/OMIM/MTHU000185
http://purl.bioontology.org/ontology/OMIM/MTHU036393
http://purl.bioontology.org/ontology/OMIM/MTHU005330
http://purl.bioontology.org/ontology/OMIM/MTHU002499
http://purl.bioontology.org/ontology/OMIM/MTHU009461
http://purl.bioontology.org/ontology/OMIM/MTHU000512
http://purl.bioontology.org/ontology/OMIM/MTHU004559
http://purl.bioontology.org/ontology/OMIM/MTHU009462
http://purl.bioontology.org/ontology/OMIM/MTHU000031
http://purl.bioontology.org/ontology/OMIM/MTHU003641
http://purl.bioontology.org/ontology/OMIM/MTHU009460
http://purl.bioontology.org/ontology/OMIM/MTHU009469
http://purl.bioontology.org/ontology/OMIM/MTHU009465
http://purl.bioontology.org/ontology/OMIM/MTHU009471
http://purl.bioontology.org/ontology/OMIM/MTHU036764
http://purl.bioontology.org/ontology/OMIM/MTHU000509
http://purl.bioontology.org/ontology/OMIM/MTHU036371
http://purl.bioontology.org/ontology/OMIM/MTHU000081
http://purl.bioontology.org/ontology/OMIM/MTHU009467
http://purl.bioontology.org/ontology/OMIM/MTHU000199
http://purl.bioontology.org/ontology/OMIM/MTHU002595
http://purl.bioontology.org/ontology/OMIM/MTHU009464
http://purl.bioontology.org/ontology/OMIM/MTHU009466
http://purl.bioontology.org/ontology/OMIM/MTHU009468
http://purl.bioontology.org/ontology/OMIM/MTHU037219
http://purl.bioontology.org/ontology/OMIM/MTHU009463
http://purl.bioontology.org/ontology/OMIM/MTHU000235
http://purl.bioontology.org/ontology/OMIM/MTHU009470
http://purl.bioontology.org/ontology/OMIM/MTHU000242
http://purl.bioontology.org/ontology/OMIM/MTHU000094
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tui
T047
Gene Locus
6q14-q15
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
269920
Semantic type UMLS property
Has inheritance type
cui
C2930923
C1096902
OMIM Entry Type
3
OMIM MimType Value
pound
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