GenTIGSA Gene Database on Rare Genetic Disorders
  Beta Version
Mucolipidosis Type II  
Disease Aliases (31)

Deficiency of n-acetylglucosamine-1-phosphotransferase

Gnpta

Gnptab-related mucolipidoses

I cell disease

I-cell disease

I-cell diseases

I-cell - inclusion cell disease

Icd

Inclusion cell disease

Inclusion cell diseases

Inclusion-cell disease

Leroy disease

Ml 2

Ml 2 alpha/beta

Ml ii

Ml ii alpha/beta

Ml disorder type 2

Mucolipidosis ii

Mucolipidoses, type ii

Mucolipidosis 2

Mucolipidosis ii alpha beta

Mucolipidosis type ii

Mucolipidosis type ii alpha/beta

Mucolipidosis, type ii

N-acetylglucosamine 1-phosphotransferase deficiency

N-acetylglucosamine 1phosphotransferase deficiency

N-acetylglucosamine-1-phosphotransferase deficiency

Type ii mucolipidoses

Type ii mucolipidosis

Mucolipidosis 2 alpha/beta

Mucolipidosis ii alpha/beta

Associated Genes (1)
 

NCBI-RefSeq:  GNPTAB   (N-acetylglucosamine-1-phosphate transferase subunits alpha and beta)

External Links:  gnomAD browser   Ensembl   GeneCards

 


Cross-references of Mucolipidosis type II OMIM GARD Orphanet NCBI-GTR NCBI-MedGen MalaCards      MeSH Annotations