Deficiency of N-acetylglucosamine-1-phosphotransferase

Symptom Information:

Symptom ID: HPO:0003264
Synonyms:
Deficiency of N-acetylglucosamine-1-phosphotransferase [OMIM:Deficiency of N-acetylglucosamine-1-phosphotransferase]
Quality:
Cross references:
OMIM: "Deficiency of N-acetylglucosamine-1-phosphotransferase" [OMIM:Deficiency of N-acetylglucosamine-1-phosphotransferase]
Is a (Direct Parents):
HPO         Abnormality of lysosomal metabolism
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of metabolism/homeostasis(HPO:0001939)
          Abnormality of cell physiology(HPO:0011017)
             Abnormality of lysosomal metabolism(HPO:0004356)
                Deficiency of N-acetylglucosamine-1-phosphotransferase(HPO:0003264)
MedDRA:
Database Frequency: 3 / 7739
Resource:

All diseases associated with this symptom:

MUCOLIPIDOSIS III ALPHA/BETA (OMIM:252600)
Mucolipidosis type 2 (Orphanet:576)
Mucolipidosis type 3 (Orphanet:577)