Disease Index

human disease

Paris-Trousseau thrombocytopenia (TCPT) is a contiguous gene syndrome characterized by mild bleeding tendency, variable thrombocytopenia (THC), dysmorphic facies, abnormal giant alpha-granules in platelets and dysmegakaryopoiesis

uncommon congenital vascular malformation (CVM) characterized by the venous malformations, cutaneous capillary malformations, and lymphatic malformations along with arteriovenous malformation.

long-term degenerative neurological disorder

symptoms that resemble Parkinson's disease

Parkinson's disease that has material basis in mutation in the FBXO7 gene on chromosome 22q12.3

human disease

human disease

medical condition

medical condition

human disease

rare disorder of abnormal pain sensation

disease of the blood characterized by destruction of red blood cells by the complement system, a part of the body's innate immune system

dystonia characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation that has material basis in heterozygous mutation in the MR1 gene on chromosome 2q35

human disease

rare and distinctive neuro-ophthalmological syndrome characterized by episodes of sustained upward deviation of the eyes

a rare disease characterized by progressive shrinkage and degeneration of the tissues beneath the skin, usually on only one side of the face (hemifacial atrophy) but occasionally extending to other parts of the body

medical condition

human disease

human disease

human disease

human disease

human disease

human disease

human disease

human disease

human disease