| Disease ID | Source | Name | Description |
| 243700 | OMIM | Hyper-IgE recurrent infection syndrome 2, autosomal recessive (HIES2) | A rare disorder characterized by immunodeficiency, recurrent infections, eczema, increased serum IgE, eosinophilia and lack of connective tissue and skeletal involvement. The disease is caused by variants affecting the gene represented in this entry. |
| 614113 | OMIM | Mental retardation, autosomal dominant 2 (MRD2) | A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. The gene represented in this entry is involved in disease pathogenesis. A chromosomal aberration disrupting DOCK8 has been found in a patient with mental retardation and ectodermal dysplasia. A balanced translocation, t(X;9) (q13.1;p24). A genomic deletion of approximately 230 kb in subtelomeric 9p has been detected in a patient with mental retardation. |