loading...| Preferred Name | mucopolysaccharidosis | |
| Synonyms |
MPS Mucopolysaccharidoses mucopolysaccharidosis mucopolysaccharidoses |
|
| Definitions |
A group of autosomal recessive or X-linked inherited lysosomal storage disorders affecting the metabolism of mucopolysaccharides, resulting in the accumulation of mucopolysaccharides in the body. Signs and symptoms include organomegaly, mental retardation, abnormal skeletal development, heart disorders, hearing loss, and central nervous system deficiencies. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0019249 |
|
| database_cross_reference |
icd11.foundation:1596128696 Orphanet:79213 OMIMPS:607014 NCIT:C61259 MedDRA:10028093 UMLS:C0026703 MEDGEN:7733 MESH:D009083 SCTID:11380006 DOID:12798 GARD:7065 ICD9:277.5 NORD:1461 |
|
| definition |
A group of autosomal recessive or X-linked inherited lysosomal storage disorders affecting the metabolism of mucopolysaccharides, resulting in the accumulation of mucopolysaccharides in the body. Signs and symptoms include organomegaly, mental retardation, abnormal skeletal development, heart disorders, hearing loss, and central nervous system deficiencies. |
|
| has_exact_synonym |
Mucopolysaccharidoses mucopolysaccharidosis mucopolysaccharidoses |
|
| has_related_synonym |
MPS |
|
| id |
MONDO:0019249 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_group_of_disorders http://purl.obolibrary.org/obo/mondo/mondo-base#disease_grouping |
|
| label |
mucopolysaccharidosis |
|
| notation |
MONDO:0019249 |
|
| preferred label |
mucopolysaccharidosis |
|
| prefLabel |
mucopolysaccharidosis |
|
| see also |
https://rarediseases.info.nih.gov/diseases/7065/mucopolysaccharidosis |
|
| skos_closeMatch | ||
| skos_exactMatch |
http://identifiers.org/mesh/D009083 http://purl.obolibrary.org/obo/DOID_12798 http://identifiers.org/snomedct/11380006 http://purl.obolibrary.org/obo/NCIT_C61259 http://identifiers.org/medgen/7733 http://linkedlifedata.com/resource/umls/id/C0026703 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1596128696 |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0002561 http://purl.obolibrary.org/obo/MONDO_0019214 |