loading...| Preferred Name |
mucopolysaccharidosis type 1 |
|
| Synonyms |
Mucopolysaccharidosis Type I iduronidase deficiency disease Alpha-L-iduronidase deficiency MPS I - Hurler syndrome lipochondrodystrophy mucopolysaccharidosis type 1 mucopolysaccharidosis type I mucopolysaccharidosis, type 1 mucopolysaccharidosis, MPS-I MPS1 MPSI Hurler-Scheie syndrome (subtype) IDUA deficiency severe MPS I (subtype, also known as Hurler syndrome) attenuated MPS I (subtype, includes Hurler-Scheie and Scheie syndrome) mucopolysaccharidosis I Scheie syndrome (subtype) formerly known as Mucopoly-saccharidosis type V) Hurler syndrome (subtype) MPS 1 MPS I Hurler syndrome |
|
| Definitions |
The most common type of mucopolysaccharidosis. It is inherited in an autosomal recessive pattern. It comprises a group of lysosomal storage diseases which includes the most severe form (Hurler syndrome) and the mildest form (Scheie syndrome). |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0001586 |
|
| closeMatch | ||
| database_cross_reference |
MedDRA:10056886 SCTID:75610003 Orphanet:579 NCIT:C85053 icd11.foundation:1539226250 NANDO:2200547 NANDO:2201168 DOID:12802 GARD:10335 NORD:1462 |
|
| definition |
The most common type of mucopolysaccharidosis. It is inherited in an autosomal recessive pattern. It comprises a group of lysosomal storage diseases which includes the most severe form (Hurler syndrome) and the mildest form (Scheie syndrome). |
|
| exactMatch |
http://identifiers.org/snomedct/75610003 http://purl.obolibrary.org/obo/NCIT_C85053 |
|
| has_exact_synonym |
Mucopolysaccharidosis Type I iduronidase deficiency disease Alpha-L-iduronidase deficiency MPS I - Hurler syndrome lipochondrodystrophy mucopolysaccharidosis type 1 mucopolysaccharidosis type I mucopolysaccharidosis, type 1 mucopolysaccharidosis, MPS-I MPS1 MPSI |
|
| has_narrow_synonym |
Hurler syndrome |
|
| has_related_synonym |
Hurler-Scheie syndrome (subtype) IDUA deficiency severe MPS I (subtype, also known as Hurler syndrome) attenuated MPS I (subtype, includes Hurler-Scheie and Scheie syndrome) mucopolysaccharidosis I Scheie syndrome (subtype) formerly known as Mucopoly-saccharidosis type V) Hurler syndrome (subtype) MPS 1 MPS I |
|
| id |
MONDO:0001586 |
|
| 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#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disease |
|
| label |
mucopolysaccharidosis type 1 |
|
| notation |
MONDO:0001586 |
|
| prefLabel |
mucopolysaccharidosis type 1 |
|
| subClassOf |
http://www.ebi.ac.uk/efo/EFO_0003966 |
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| excluded_subClassOf |