Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
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Preferred Name

MUCOPOLYSACCHARIDOSIS, TYPE IVA
Synonyms

MORQUIO A DISEASE
ID

http://purl.bioontology.org/ontology/OMIM/253000
altLabel

MORQUIO A DISEASE

GALACTOSAMINE-6-SULFATASE DEFICIENCY

MPS4A

MPS IVA

MORQUIO SYNDROME A

GALNS DEFICIENCY
cui

C0086651
Gene Locus

16q24.3
Gene Symbol

GALNS

MPS4A
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU036368

http://purl.bioontology.org/ontology/OMIM/MTHU001355

http://purl.bioontology.org/ontology/OMIM/MTHU003664

http://purl.bioontology.org/ontology/OMIM/MTHU011189

http://purl.bioontology.org/ontology/OMIM/MTHU008513

http://purl.bioontology.org/ontology/OMIM/MTHU011207

http://purl.bioontology.org/ontology/OMIM/MTHU000258

http://purl.bioontology.org/ontology/OMIM/MTHU011194

http://purl.bioontology.org/ontology/OMIM/MTHU011163

http://purl.bioontology.org/ontology/OMIM/MTHU001954

http://purl.bioontology.org/ontology/OMIM/MTHU009982

http://purl.bioontology.org/ontology/OMIM/MTHU011193

http://purl.bioontology.org/ontology/OMIM/MTHU065389

http://purl.bioontology.org/ontology/OMIM/MTHU007190

http://purl.bioontology.org/ontology/OMIM/MTHU001361

http://purl.bioontology.org/ontology/OMIM/MTHU001946

http://purl.bioontology.org/ontology/OMIM/MTHU011192

http://purl.bioontology.org/ontology/OMIM/MTHU008519

http://purl.bioontology.org/ontology/OMIM/MTHU002639

http://purl.bioontology.org/ontology/OMIM/MTHU011201

http://purl.bioontology.org/ontology/OMIM/MTHU036353

http://purl.bioontology.org/ontology/OMIM/MTHU003640

http://purl.bioontology.org/ontology/OMIM/MTHU004893

http://purl.bioontology.org/ontology/OMIM/MTHU001148

http://purl.bioontology.org/ontology/OMIM/MTHU011197

http://purl.bioontology.org/ontology/OMIM/MTHU000681

http://purl.bioontology.org/ontology/OMIM/MTHU000036

http://purl.bioontology.org/ontology/OMIM/MTHU002380

http://purl.bioontology.org/ontology/OMIM/MTHU011198

http://purl.bioontology.org/ontology/OMIM/MTHU011206

http://purl.bioontology.org/ontology/OMIM/MTHU036366

http://purl.bioontology.org/ontology/OMIM/MTHU011166

http://purl.bioontology.org/ontology/OMIM/MTHU011205

http://purl.bioontology.org/ontology/OMIM/MTHU011208

http://purl.bioontology.org/ontology/OMIM/MTHU011196

http://purl.bioontology.org/ontology/OMIM/MTHU003440

http://purl.bioontology.org/ontology/OMIM/MTHU000585

http://purl.bioontology.org/ontology/OMIM/MTHU011195
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

253000
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

MUCOPOLYSACCHARIDOSIS, TYPE IVA
Scope Statement

Appear normal at birth [MISCELLANEOUS]

Onset between 1-3 years [MISCELLANEOUS]

Caused by mutation in the galactosamine-6-sulfatase gene (GALNS, 612222.0001). [MOLECULAR BASIS]
tui

T047
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