Version: 8.0.0
Date: Tue Jan 28 2025
4 results
Disease Genes: hsd17b10.L (Xla)

Alzheimer's disease

Disease
Source: DOID:10652
Definition: A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.
Genes: hsd17b10.L (Xla)

osteosarcoma

Disease
Source: DOID:3347
Definition: A bone sarcoma that is located_in bone that has_material_basis_in cells of mesenchymal origin. It usually involves bones and less frequently extraosseous sites. It often involves the long bones (particularly distal femur, proximal tibia, and proximal humerus).
Genes: hsd17b10.L (Xla)

syndromic X-linked intellectual disability type 10

Disease
Source: DOID:0060810
Definition: A syndromic X-linked intellectual disability characterized by mild intellectual deficit associated with choreoathetosis and abnormal behaviour that has_material_basis_in mutation in the HSD17B10 gene on chromosome Xp11.22.
Genes: hsd17b10.L (Xla)

pheochromocytoma

Disease
Source: DOID:0050771
Definition: An endocrine organ benign neoplasm that arises within the adrenal medulla, releasing epinephrines and norepinephrines hormones that cause either episodic or persistent high blood pressure.
Genes: hsd17b10.L (Xla)