loading...| Preferred Name |
Mucopolysaccharidosis I |
|
| Synonyms |
Hurler Syndrome |
|
| Definitions |
Systemic lysosomal storage disease caused by a deficiency of alpha-L-iduronidase (IDURONIDASE) and characterized by progressive physical deterioration with urinary excretion of DERMATAN SULFATE and HEPARAN SULFATE. There are three recognized phenotypes representing a spectrum of clinical severity from severe to mild: Hurler syndrome, Hurler-Scheie syndrome and Scheie syndrome (formerly mucopolysaccharidosis V). Symptoms may include DWARFISM; hepatosplenomegaly; thick, coarse facial features with low nasal bridge; corneal clouding; cardiac complications; and noisy breathing. |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D008059 |
|
| altLabel |
Hurler Syndrome Disease, Hurler's Hurler's Disease Scheie's Syndrome Pfaundler-Hurler Syndrome Lipochondrodystrophy Type Ihs, Mucopolysaccharidosis Mucopolysaccharidosis V Syndrome, Hurler's Mucopolysaccharidosis Type Ih S Mucopolysaccharidosis Type Ihs Gargoylisms Mucopolysaccharidosis Is Syndrome, Scheie's Mucopolysaccharidosis 1 Mucopolysaccharidosis Type I Scheie Syndrome Mucopolysaccharidosis 5 Lipochondrodystrophies Gargoylism, Hurler Syndrome Hurler-Scheie Syndrome Mucopolysaccharidosis I S Hurler Disease alpha-L-Iduronidase Deficiency Gargoylism Hurler Scheie Syndrome Hurler's Syndrome Mucopolysaccharidosis Type Ih Mucopolysaccharidosis I-S Type Ih, Mucopolysaccharidosis alpha L Iduronidase Deficiency Hurler Syndrome Gargoylism alpha-L-Iduronidase Deficiencies Mucopolysaccharidosis Type Is |
|
| AQL |
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI |
|
| cui |
C2713321 C0023786 C0086795 C0086431 C0026708 |
|
| DC |
1 |
|
| definition |
Systemic lysosomal storage disease caused by a deficiency of alpha-L-iduronidase (IDURONIDASE) and characterized by progressive physical deterioration with urinary excretion of DERMATAN SULFATE and HEPARAN SULFATE. There are three recognized phenotypes representing a spectrum of clinical severity from severe to mild: Hurler syndrome, Hurler-Scheie syndrome and Scheie syndrome (formerly mucopolysaccharidosis V). Symptoms may include DWARFISM; hepatosplenomegaly; thick, coarse facial features with low nasal bridge; corneal clouding; cardiac complications; and noisy breathing. |
|
| DX |
19920101 |
|
| FX |
D016532 D007068 |
|
| HN |
1992; use LIPOCHONDRODYSTROPHY 1966-1991; MUCOPOLYSACCHARIDOSIS 5 was heading 1991, use MUCOPOLYSACCHARIDOSIS 1975-1990; for MUCOPOLYSACCHARIDOSIS 1 use LIPOCHONDRODYSTROPHY 1976-1991; for HURLER'S DISEASE use LIPOCHONDRODYSTROPHY 1975-1991; for SCHEIE'S SYNDROME use MUCOPOLYSACCHARIDOSIS 5 1975-1991; |
|
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
| Inverse of RO | ||
| Machine permutation |
1992; see LIPOCHONDRODYSTROPHY 1966-91; MUCOPOLYSACCHARIDOSIS 5 was heading 1991, see MUCOPOLYSACCHARIDOSIS 1975-1990; for MUCOPOLYSACCHARIDOSIS 1 see LIPOCHONDRODYSTROPHY 1976-1991; for HURLER'S DISEASE see LIPOCHONDRODYSTROPHY 1975-1991; for SCHEIE'S SYNDROME see MUCOPOLYSACCHARIDOSIS 5 1975-1991 |
|
| MDA |
19990101 |
|
| MMR |
20151021 |
|
| MN |
C17.300.550.575.640 C18.452.648.595.600.640 C18.452.648.202.715.640 C16.320.565.595.600.640 C16.320.565.202.715.640 |
|
| notation |
D008059 |
|
| prefLabel |
Mucopolysaccharidosis I |
|
| TERMUI |
T024015 T024017 T024021 T024014 T024024 T443709 T024025 T024018 T752797 T812020 T844857 T812021 T648265 T843328 T024027 T024016 T024020 T811761 T024026 T648267 T000888303 |
|
| TH |
NLM (2016) OMIM (2013) NLM (2002) NLM (1966) NLM (1992) UNK (19XX) NLM (2010) GHR (2014) NLM (2007) NLM (2014) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |