Disease Directory

TEK-related primary glaucoma is a type of primary hereditary glaucoma. This condition occurs when a mutation in the TEK gene is the cause of the disea...

TELO2-related intellectual disability-neurodevelopmental disorder is a rare condition associated with intellectual disability and neurodevelopmental d...

TFEB-rearranged renal cell carcinoma is a type of kidney cancer that involves MiT translocations. This cancer is characterized by a specific chromosom...

TFRC-related combined immunodeficiency, also known as CID due to TFRC deficiency, IMD46, immunodeficiency 46, immunodeficiency type 46, or combined im...

TH-deficient dopa-responsive dystonia, also known as autosomal recessive dopa-responsive dystonia (DYT5b), is a very rare neurometabolic disorder. It...

TH-deficient infantile parkinsonism and motor delay is a condition that begins usually between the ages of three and 12 months. It is caused by a defi...

TH-deficient progressive infantile encephalopathy is a rare condition noted for a deficiency in the enzyme tyrosine hydroxylase. This enzyme plays a k...

THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome is a rare genetic condition. It is characterized by developmental delays, a...

TMEM127-related tumor predisposition is a genetic condition caused by changes in the TMEM127 gene. It is inherited in an autosomal dominant pattern, w...

TMEM165-congenital disorder of glycosylation (TMEM165-CDG) is a rare inherited condition that is part of the family of congenital disorders of glycosy...

TMEM199-CDG, also known as congenital disorder of glycosylation type IIp, is a very rare condition that belongs to a group of disorders affecting how...

TMEM63B-related developmental and epileptic encephalopathy with anemia is a rare disorder caused by a variation in the TMEM63B gene. It is characteriz...

TNF receptor 1-associated periodic fever syndrome is a condition marked by recurrent fevers that last from one to three weeks, accompanied by joint pa...

TOPORS-related retinopathy is a condition that affects the retina, which is the light-sensitive layer at the back of the eye. It is caused by a change...

TOR1AIP1-related myopathy is a congenital muscle condition caused by changes in the TOR1AIP1 gene. This condition affects the muscles from birth, and...

TPM2-related myopathy is a congenital muscle condition that affects the musculoskeletal system. It is caused by changes in the skeletal muscle beta-Tr...

TPM3-related myopathy is a disorder of the musculoskeletal system that can appear in different ways. It is caused by changes in the TPM3 gene, which i...

TPM4-related platelet disorder is a condition where a change in the TPM4 gene affects how platelets work. Platelets are important for helping the bloo...

TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome is a rare condition that affects many parts of the...

TREX1-related autosomal dominant Aicardi-Goutieres syndrome is a rare inherited condition that falls under the group of Aicardi-Goutieres syndromes. I...