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alpha-N-acetylgalactosaminidase deficiency type 2

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 2 is a very rare mild adult type of NAGA deficiency with the features of angiokeratoma corporis diffusum and mild sensory neuropathy.
Uniprot Description Autosomal recessive disorder characterized by late-onset, angiokeratoma corporis diffusum and mild intellectual impairment.
Mondo Term and Equivalent IDs
MONDO:0012222:  alpha-N-acetylgalactosaminidase deficiency type 2
GARD:0009161: 
Orphanet:79280: 
UMLS:C1836522: