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Online Mendelian Inheritance in Man
Last uploaded:
January 16, 2025
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| Id | http://purl.bioontology.org/ontology/OMIM/253000
http://purl.bioontology.org/ontology/OMIM/253000
|
|---|---|
| Preferred Name | MUCOPOLYSACCHARIDOSIS, TYPE IVA |
| Synonyms |
MORQUIO A DISEASE
GALACTOSAMINE-6-SULFATASE DEFICIENCY
MPS4A
MPS IVA
MORQUIO SYNDROME A
GALNS DEFICIENCY
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
MORQUIO A DISEASE
GALACTOSAMINE-6-SULFATASE DEFICIENCY
MPS4A
MPS IVA
MORQUIO SYNDROME A
GALNS DEFICIENCY
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|---|---|
| prefLabel |
MUCOPOLYSACCHARIDOSIS, TYPE IVA
|
| Gene Symbol |
GALNS
MPS4A
|
| notation |
253000
|
| 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]
|
| OMIM MimType Value |
pound
|
| Has inheritance type | |
| Semantic type UMLS property | |
| OMIM Entry Type |
3
|
| type | |
| Has manifestation |
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|
| MIMTYPEMEANING |
Phenotype description, molecular basis known.
|
| Gene Locus |
16q24.3
|
| tui |
T047
|
| cui |
C0086651
|
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