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Biological and Environmental Research Ontology
Last uploaded:
December 23, 2022
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| Id | http://purl.obolibrary.org/obo/NCIT_C84901
http://purl.obolibrary.org/obo/NCIT_C84901
|
|---|---|
| Preferred Name | Mucopolysaccharidosis Type IVA |
| Definitions |
A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme galactosamine-6-sulfatase. It is characterized by skeletal and central nervous system deficits.
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme galactosamine-6-sulfatase. It is characterized by skeletal and central nervous system deficits. |
|---|---|
| label |
Mucopolysaccharidosis Type IVA
|
| prefLabel |
Mucopolysaccharidosis Type IVA
|
| in_subset | |
| Preferred_Name |
Mucopolysaccharidosis Type IVA
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| UMLS_CUI |
C0086651
|
| prefixIRI |
NCIT:C84901
|
| Contributing_Source |
Cellosaurus
|
| subClassOf | |
| code |
C84901
|
| type | |
| Semantic_Type |
Disease or Syndrome
|
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