Abnormality of mucopolysaccharide metabolism

Symptom Information:

Symptom ID: HPO:0011020
Synonyms:
Mucopolysaccharidosis [Orphanet:49420]
Mucopolysaccharidosis (disorder) [Orphanet:49420]
Mucopolysaccharidoses [Orphanet:49420]
Mucopolysacchariduria [Orphanet:49420]
Mucopolysaccharidosis [MedDRA:10028093]
Mucopolysaccharidosis NOS [MedDRA:10028093]
Geleophysic dysplasia [MedDRA:10028093]
Mucopolysacchariduria (both chondroitin sulfate B and heparitin sulfate) [OMIM:Mucopolysacchariduria (both chondroitin sulfate B and heparitin sulfate)]
Quality:
Cross references:
HPO:0003567 "Mucopolysacchariduria" [Orphanet:49420]
Orphanet:49420 "Mucopolysacchariduria" [Orphanet:49420]
OMIM: "Mucopolysacchariduria (both chondroitin sulfate B and heparitin sulfate)" [OMIM:Mucopolysacchariduria (both chondroitin sulfate B and heparitin sulfate)]
UMLS:C0026703 "Mucopolysaccharidoses" [Orphanet:49420]
Is a (Direct Parents):
HPO         Abnormality of glycosaminoglycan metabolism
Orphanet Abnormality of carbohydrate metabolism/homeostasis
MedDRA Lysosomal storage disorders
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)
MedDRA:
Congenital, familial and genetic disorders(MedDRA:10010331)
    Metabolic and nutritional disorders congenital(MedDRA:10027424)
       Lysosomal storage disorders(MedDRA:10024579)
          Abnormality of mucopolysaccharide metabolism(HPO:0011020)
Database Frequency: 17 / 7739
Resource:

All diseases associated with this symptom:

Brachyolmia type 1, Toledo type (Orphanet:93303)
Cartilage-hair hypoplasia (Orphanet:175)
Fucosidosis (Orphanet:349)
Hurler syndrome (Orphanet:93473)
Hurler-Scheie syndrome (Orphanet:93476)
MUCOPOLYSACCHARIDOSES, UNCLASSIFIED TYPES (OMIM:252700)
Mucolipidosis type 4 (Orphanet:578)
Mucopolysaccharidosis type 1 (Orphanet:579)
Mucopolysaccharidosis type 2 (Orphanet:580)
Mucopolysaccharidosis type 2, attenuated form (Orphanet:217093)
Mucopolysaccharidosis type 2, severe form (Orphanet:217085)
Mucopolysaccharidosis type 3 (Orphanet:581)
Mucopolysaccharidosis type 4 (Orphanet:582)
Mucopolysaccharidosis type 6 (Orphanet:583)
Mucopolysaccharidosis type 7 (Orphanet:584)
Multiple sulfatase deficiency (Orphanet:585)
Scheie syndrome (Orphanet:93474)