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Ontology Browser

mucopolysaccharidosis I (DOID:12802)
Annotations: Rat: (2) Mouse: (2) Human: (2) Chinchilla: (2) Bonobo: (2) Dog: (2) Squirrel: (2) Pig: (2)
Parent Terms Term With Siblings Child Terms
Mucopolysaccharidoses, Unclassified Types 
mucopolysaccharidosis I +   
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.
mucopolysaccharidosis II  
mucopolysaccharidosis III  
mucopolysaccharidosis IV +   
mucopolysaccharidosis IX  
mucopolysaccharidosis VI  
Mucopolysaccharidosis VIII 
Sly syndrome  

Exact Synonyms: DYSOSTOSIS MULTIPLEX ;   Gargoylism ;   Gargoylisms ;   Hurler Disease ;   Hurler Scheie Syndrome ;   Hurler Syndrome ;   Hurler Syndrome Gargoylism ;   Hurler's Disease ;   Hurler's Syndrome ;   Lipochondrodystrophies ;   Lipochondrodystrophy ;   MPS I - Hurler syndrome ;   MPS1-H ;   MPS1-HS ;   MUCOPOLYSACCHARIDOSIS, MPS-I-H/S ;   Mucopolysaccharidosis 1 ;   Mucopolysaccharidosis Type I ;   Mucopolysaccharidosis Type Ih ;   Mucopolysaccharidosis Type Ih S ;   Mucopolysaccharidosis Type Ihs ;   Mucopolysaccharidosis, MPS-I ;   Pfaundler-Hurler Syndrome ;   alpha L Iduronidase Deficiency ;   alpha-L-Iduronidase Deficiencies ;   iduronidase deficiency disease
Primary IDs: MESH:D008059
Alternate IDs: OMIA:000664 ;   OMIM:607014 ;   OMIM:607015 ;   RDO:0006011
Xrefs: GARD:10335 ;   NCI:C85053
Definition Sources: MESH:D008059,

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.