Aspartylglucosaminuria

Symptom Information:

Symptom ID: HPO:0012068
Synonyms:
Aspartylglucosaminuria [OMIM:Aspartylglucosaminuria]
Aspartylglucosaminuria [MedDRA:10068220]
Quality:
Cross references:
OMIM: "Aspartylglucosaminuria" [OMIM:Aspartylglucosaminuria]
Is a (Direct Parents):
MedDRA Lysosomal storage disorders
HPO         Glycopeptiduria
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)
             Glycopeptiduria(HPO:0012067)
                Aspartylglucosaminuria(HPO:0012068)
MedDRA:
Congenital, familial and genetic disorders(MedDRA:10010331)
    Metabolic and nutritional disorders congenital(MedDRA:10027424)
       Lysosomal storage disorders(MedDRA:10024579)
          Aspartylglucosaminuria(HPO:0012068)
Database Frequency: 1 / 7739
Resource:

All diseases associated with this symptom:

Aspartylglucosaminuria (Orphanet:93)