Disease ID | Source | Name | Description |
609227 | OMIM | Griscelli syndrome 3 (GS3) | Rare autosomal recessive disorder characterized by pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts, and an accumulation of melanosomes in melanocytes, without other clinical manifestations. The disease is caused by variants affecting the gene represented in this entry. |