loading...| Preferred Name |
mucopolysaccharidosis IV |
|
| Synonyms |
|
|
| Definitions |
OMIM mapping confirmed by DO. [SN]. A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzymes galactose 6-sulfate sulfatase (Type A) or beta-galactosidase (Type B) needed to break down the keratan sulfate sugar chain. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_12804 |
|
| comment |
OMIM mapping confirmed by DO. [SN]. |
|
| definition |
A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzymes galactose 6-sulfate sulfatase (Type A) or beta-galactosidase (Type B) needed to break down the keratan sulfate sugar chain. |
|
| hasAlternativeId |
DOID:14767 |
|
| hasDbXref |
UMLS_CUI:C0026707 SNOMEDCT_US_2016_03_01:124449003 NCI:C84901 SNOMEDCT_US_2016_03_01:254074007 ICD10CM:E76.210 OMIM:253010 ICD10CM:E76.219 SNOMEDCT_US_2016_03_01:130197005 MESH:D009085 SNOMEDCT_US_2016_03_01:190936000 OMIM:253000 SNOMEDCT_US_2016_03_01:378007 SNOMEDCT_US_2016_03_01:78856008 UMLS_CUI:C0086651 NCI:C61263 SNOMEDCT_US_2016_03_01:7259005 |
|
| hasExactSynonym |
galactosamine-6-sulfatase deficiency Mucopolysaccharidosis, MPS-IV deficiency of chondroitinsulphatase deficiency of N-acetylgalactosamine-6-sulphatase |
|
| hasNarrowSynonym |
mucopolysaccharidosis type IVA MPS IV - Morquio syndrome B chondroosteodystrophy Mucopolysaccharidosis, MPS-IV-A (disorder) Morquio syndrome A Osteochondrodystrophy Mucopolysaccharidosis type IVB Morquio A disease MPS IV - Morquio syndrome A |
|
| hasOBONamespace |
disease_ontology |
|
| id |
DOID:12804 |
|
| imported from | ||
| label |
mucopolysaccharidosis IV |
|
| prefixIRI |
DOID:12804 |
|
| prefLabel |
mucopolysaccharidosis IV |
|
| subClassOf |
This ontology integrates with OntoloBridge, allowing community users to suggest additions to the public ontology. Complete the template below to submit a term request directly to the ontology maintainer.
Term Label (required)
Suggested term name. If a term can be described with multiple synonyms, only list the preferred name here.
Term description (required)
A brief definition, description, or usage of your suggested term. Additional term synonyms may be listed in this section.
Superclass (required)
The parent term of the suggested term. The parent term should be an existing entry of the current ontology. The superclass can be selected directly from Bioportal's Classes tree viewer.
References (optional)
Provide evidence for the existence of the requested term such as Pubmed IDs of papers or links to other resources that describe the term.
Justification (optional)
Provide any additional information about the requested term here.