Disease - Kanzaki disease
- DefinitionAutosomal recessive disorder characterized by late-onset, angiokeratoma corporis diffusum and mild intellectual impairment.
- AcronymKANZD
- Alternative names
- Cross references
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Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice.Related UniProtKB entry
Browse 1 entry- Alpha-N-acetylgalactosaminidase · Gene: NAGA · Homo sapiens (Human) · EC:3.2.1.49 · 411 amino acids · Evidence at protein level · Annotation score: 5/5