| Disease ID | Source | Name | Description |
| 618019 | OMIM | Pelger-Huet anomaly with mild skeletal anomalies (PHASK) | A disease characterized by abnormal nuclear shape and chromatin organization in blood granulocytes, short stature, and mild skeletal anomalies. Initial skeletal features may improve with age. The disease is caused by variants affecting the gene represented in this entry. |
| 215140 | OMIM | Greenberg dysplasia (GRBGD) | A rare autosomal recessive chondrodystrophy characterized by early in utero lethality. Affected fetuses typically present with fetal hydrops, short-limbed dwarfism, and a marked disorganization of chondro-osseous calcification, and ectopic ossification centers. The disease is caused by variants affecting the gene represented in this entry. |
| 169400 | OMIM | Pelger-Huet anomaly (PHA) | An autosomal dominant inherited abnormality of granulocytes, characterized by abnormal ovoid shape, reduced nuclear segmentation and an apparently looser chromatin structure. The disease is caused by variants affecting the gene represented in this entry. |
| 613471 | OMIM | Reynolds syndrome (REYNS) | A syndrome specifically associating limited cutaneous systemic sclerosis and primary biliary cirrhosis. It is characterized by liver disease, telangiectasia, abrupt onset of digital paleness or cyanosis in response to cold exposure or stress (Raynaud phenomenon), and variable features of scleroderma. The liver disease is characterized by pruritis, jaundice, hepatomegaly, increased serum alkaline phosphatase and positive serum mitochondrial autoantibodies, all consistent with primary biliary cirrhosis. The disease may be caused by variants affecting the gene represented in this entry. |