Disease Index
9,486 diseasestetrasomy 21
tetrasomy 5p
human disease
Tetrasomy 9p
human disease
MeSH: C538027
Teunissen–Cremers syndrome
Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia
TFRC-related combined immunodeficiency
human disease
Thakker-Donnai syndrome
human disease
thalamic degeneration, symmetric infantile
human disease
MeSH: C536504
thanatophoric dysplasia
osteochondrodysplasia that results in short arms and legs with excess folds of skin
MeSH: D013796
thanatophoric dysplasia type 1
Thanatophoric dysplasia type 1 (TD1) is a form of TD (see this term) characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly
thanatophoric dysplasia type 2
form of thanatophoric dysplasia
MeSH: C536508
thanatophoric dysplasia, Glasgow variant
human disease
MeSH: C536506
THBD
protein-coding gene in the species Homo sapiens
theca steroid-producing cell malignant tumor of ovary, not further specified
therapy related acute myeloid leukemia and myelodysplastic syndrome
human disease
thiamine-responsive encephalopathy
Thiamine-responsive encephalopathy is a Wernicke-like encephalopathy (see this term) characterized by seizures responsive to high doses of thiamine
thiamine-responsive maple syrup urine disease
thiamine-responsive megaloblastic anemia syndrome
Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness
MeSH: C536510
Thickened earlobes-conductive deafness syndrome
medical condition
Thiel-Behnke corneal dystrophy
Human disease
MeSH: C535942
Thiemann disease, familial form
MeSH: C537144
thin basement membrane disease
human disease
ICD: N05.8MeSH: C562476
thin ribs-tubular bones-dysmorphism syndrome
human disease
MeSH: C537595
thinking seizures
thiopurine S-methyltransferase deficiency
inherited metabolic disease that is characterized by significantly reduced activity of an enzyme that helps the body process drugs called thiopurines
MeSH: C536512
third branchial cleft anomaly
human disease
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
human disease
Thomas syndrome
Thomas syndrome is characterised by renal anomalies, cardiac malformations and cleft lip or palate. It has been described in six patients. Transmission was suggested to be autosomal recessive.
ICD: Q87.8MeSH: C536514
thoracic aortic aneurysm
aortic aneurysm that is located in the thoracic aorta
ICD: I71.2MeSH: D017545
thoracic dysplasia-hydrocephalus syndrome
human disease
MeSH: C564774
thoracic outlet syndrome
vascular disease characterized by compression at the superior thoracic outlet
MeSH: D013901