Rare Disease Library

Tetraploidy syndrome

Tetrasomy 18p syndrome

Isochromosome 18p

Tetrasomy 21 syndrome

Isochromosome 21

Tetrasomy 5p syndrome

Isochromosome 5p

Tetrasomy 9p syndrome

Isochromosome 9p

Tetrasomy X syndrome

48,XXXX syndrome · Quadruple X

TFR2-related hemochromatosis

Hereditary hemochromatosis type 3

Thakker-Donnai syndrome

Dysmorphism-multiple structural anomalies syndrome

Thalassemia

Thalidomide embryopathy

Fetal thalidomide syndrome

Thanatophoric dysplasia

TD

Thanatophoric dysplasia type 1

TD1 · Thanatophoric dwarfism type 1

Thanatophoric dysplasia type 2

Cloverleaf skull-micromelic bone dysplasia syndrome · TD2

Thanatophoric dysplasia, Glasgow variant

Theca steroid-producing cell malignant tumor of ovary, not further specified

Theca (steroid-producing) cell cancer, not further specified

Therapy related acute myeloid leukemia and myelodysplastic syndrome

Acute myeloid leukemia · AML

Thiamine-responsive encephalopathy

Thiamine-responsive maple syrup urine disease

Thiamine-responsive BCKD deficiency · Thiamine-responsive MSUD

Thiamine-responsive megaloblastic anemia syndrome

Rogers syndrome · TRMA

Thickened earlobes-conductive deafness syndrome

Thickened earlobes-conductive hearing loss syndrome · Escher-Hirt syndrome

Thiel-Behnke corneal dystrophy

Anterior limiting membrane dystrophy type 2 · Corneal dystrophy of Bowman layer type 2

Thiemann disease, familial form

Aseptic necrosis of phalangeal epiphyses · Osteochondrosis of phalangeal epiphyses

Thin ribs-tubular bones-dysmorphism syndrome

Sharma-Kapoor-Ramji syndrome

Thinking epilepsy

Third branchial cleft anomaly

Third branchial cleft cyst · Third branchial cleft fistula

THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome

Beaulieu-Boycott-Innes syndrome · BBIS

Thomas syndrome

Potter sequence-cleft lip/palate-cardiopathy syndrome

Thoracic dysplasia-hydrocephalus syndrome

Thoracic malformation

Thoracic outlet syndrome

TOS · Thoracic outlet compression syndrome

Thoraco-abdominal enteric duplication

Thoracolaryngopelvic dysplasia

Barnes syndrome

Thoracomelic dysplasia

Rivera-Perez-Salas syndrome · Thoracolimb dysplasia, Rivera type

Thost-Unna palmoplantar keratoderma

Thrombocythemia with distal limb defects

Familial thrombocytosis with transverse limb defect · Hereditary thrombocytosis with transverse limb defect

Thrombocytopenia with congenital dyserythropoietic anemia

XDAT · Congenital dyserythropoietic anemia with thombocytopenia

Thrombocytopenia-absent radius syndrome

TAR syndrome

Thrombomodulin-related bleeding disorder

THBD-related bleeding disorder · THBD-related coagulopathy

Thrombotic microangiopathy

TMA

Thrombotic thrombocytopenic purpura

Moschcowitz disease · TTP

Thumb deformity-alopecia-pigmentation anomaly syndrome

Sparse hair-short stature-skin anomalies syndrome

Thumb stiffness-brachydactyly-intellectual disability syndrome

Piussan-Lenaerts-Mathieu syndrome

Thygeson superficial punctate keratitis

Thygeson superficial punctate keratopathy

Thymic carcinoma

Thymic epithelial neoplasm

TEN · Thymic epithelial tumor

Thymic neuroendocrine carcinoma

Thymic neuroendocrine tumor

Thymic tumor