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Disease association ontology term - MONDO:0012222 - alpha-N-acetylgalactosaminidase deficiency type 2

Term summary

ID
MONDO:0012222
Name
alpha-N-acetylgalactosaminidase deficiency type 2
Ontology or CV name
Disease association
Definition
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.

Parents

Annotation

Disease association

MONDO:0012222 - alpha-N-acetylgalactosaminidase deficiency type 2

References:

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