IDS wt Allele - CISMeF

Preferred Label : IDS wt Allele;

NCIt synonyms : SIDS; MPS2; Iduronate 2-Sulfatase (Hunter Syndrome) wt Allele;

NCIt definition : Human IDS wild-type allele is located in the vicinity of Xq28 and is approximately 27 kb in length. This allele, which encodes iduronate 2-sulfatase protein, plays a role in the mediation of proteoglycan turnover. Mutations in the gene that result in enzymatic deficiency of the gene product are associated with Mucopolysaccharidosis Type II (Hunter Syndrome).;

GenBank Accession Number : M58342;

Details

Origin ID

C75605;

UMLS CUI

C2697643;

OMIM relation
- Mucopolysaccharidosis, type II [OMIM Phenotype]
See also inter- (CISMeF)
- Mucopolysaccharidosis type 2 [ICD-11 Sub-sub category]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- Xq28 [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Hunter Syndrome [NCIt concept]
gene_is_element_in_pathway
- Glycosaminoglycan Degradation Pathway [NCIt concept]
gene_plays_role_in_process
- Carbohydrate Metabolic Process [NCIt concept]
- Hydrolysis [NCIt concept]

Keyword's position in hierarchy(ies) :

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