Mucopolysacchariduria

Symptom Information:

Symptom ID: HPO:0008155
Synonyms:
Mucopolysacchariduria [OMIM:Mucopolysacchariduria]
Mucopolysacchariduria (both chondroitin sulfate B and heparitin sulfate) [OMIM:Mucopolysacchariduria (both chondroitin sulfate B and heparitin sulfate)]
Quality:
Cross references:
OMIM: "Mucopolysacchariduria" [OMIM:Mucopolysacchariduria]
OMIM: "Mucopolysacchariduria (both chondroitin sulfate B and heparitin sulfate)" [OMIM:Mucopolysacchariduria (both chondroitin sulfate B and heparitin sulfate)]
Is a (Direct Parents):
HPO         Abnormality of mucopolysaccharide metabolism
HPO         Urinary glycosaminoglycan excretion
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of metabolism/homeostasis(HPO:0001939)
          Abnormality of carbohydrate metabolism/homeostasis(HPO:0011013)
             Abnormality of polysaccharide metabolism(HPO:0011012)
                Abnormality of glycosaminoglycan metabolism(HPO:0004371)
                   Abnormality of mucopolysaccharide metabolism(HPO:0011020)
                      Mucopolysacchariduria(HPO:0008155)
                   Urinary glycosaminoglycan excretion(HPO:0003541)
                      Mucopolysacchariduria(HPO:0008155)
          Abnormality of urine homeostasis(HPO:0003110)
             Urinary glycosaminoglycan excretion(HPO:0003541)
                Mucopolysacchariduria(HPO:0008155)
       Abnormality of the genitourinary system(HPO:0000119)
          Abnormality of the urinary system(HPO:0000079)
             Abnormality of the urinary system physiology(HPO:0011277)
                Abnormality of urine homeostasis(HPO:0003110)
                   Urinary glycosaminoglycan excretion(HPO:0003541)
                      Mucopolysacchariduria(HPO:0008155)
MedDRA:
Database Frequency: 6 / 7739
Resource:

All diseases associated with this symptom:

CHONDRODYSPLASIA CALCIFICANS METAPHYSEALIS (OMIM:215050)
CHONDROITIN-6-SULFATURIA, DEFECTIVE CELLULAR IMMUNITY, NEPHROTIC SYNDROME (OMIM:215250)
MUCOPOLYSACCHARIDOSES, UNCLASSIFIED TYPES (OMIM:252700)
Mucolipidosis type 2 (Orphanet:576)
Mucopolysaccharidosis type 2, attenuated form (Orphanet:217093)
Multiple sulfatase deficiency (Orphanet:585)