Rare Disease Library

TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome

Transaldolase deficiency

TALDO deficiency

Transcobalamin deficiency

Inherited deficiency of transcobalamin · Transcobalamin II deficiency

Transcobalamin I deficiency

Haptocorrin deficiency · TCI deficiency

Transgrediens et progrediens palmoplantar keratoderma

Greither disease · Keratosis extremitatum hereditaria progrediens

Transient congenital hypothyroidism

Transient congenital hypothyroidism due to maternal factor

Transient congenital hypothyroidism due to neonatal factor

Transient erythroblastopenia of childhood

Transient acquired pure red cell aplasia

Transient familial neonatal hyperbilirubinemia

Lucey-Driscoll syndrome

Transient hyperammonemia of the newborn

Transient infantile hypertriglyceridemia and hepatosteatosis

Transient infantile hypertriglyceridemia and fatty liver

Transient myeloproliferative syndrome

TMD · Transient abnormal myelopoiesis

Transient neonatal diabetes mellitus

TNDM

Transient neonatal multiple acyl-CoA dehydrogenase deficiency

Transient neonatal MAD deficiency · Transient neonatal MADD

Transient neonatal myasthenia gravis

Generalized myasthenia gravis · MG

Transient predisposition to invasive pyogenic bacterial infection

Transient pseudohypoaldosteronism

TPHA · Secondary pseudohypoaldosteronism

Transient tyrosinemia of the newborn

Transient tyrosinemia of the neonate

Transitional cell carcinoma of the corpus uteri

Endometrial transitional cell carcinoma

Transitional extramedullary conus spinal cord lipoma

Transketolase deficiency

TKT deficiency · Short stature-developmental delay-congenital heart defect syndrome

Transplant-related bronchiolitis obliterans

Bronchiolitis obliterans syndrome · BOS

Transposition of the great arteries

Complete transposition · TGA

Transposition of the great arteries and conotruncal cardiac anomaly

Transverse limb deficiency-hemangioma syndrome

Transverse vaginal septum

TRAPPC11-related limb-girdle muscular dystrophy R18

LGMD2S · Autosomal recessive limb-girdle muscular dystrophy type 2S

Traumatic avascular necrosis

Traumatic AVN

Treacher-Collins syndrome

Franceschetti-Klein syndrome · Mandibulofacial dysostosis without limb anomalies

Treft-Sanborn-Carey syndrome

Optic atrophy-ophthalmoplegia-ptosis-hearing loss-myopathy syndrome · Optic atrophy-ophthalmoplegia-ptosis-deafness-myopathy syndrome

Trehalase deficiency

Isolated trehalose intolerance

Tremor-ataxia-central hypomyelination syndrome

TACH syndrome

Tremor-nystagmus-duodenal ulcer syndrome

Neuhauser-Daly-Magnelli syndrome

Trench fever

Bartonellosis due to Bartonella quintana infection

Triatrial heart

Cor triatriatum

Tricarboxylic acid cycle disorder

Citric acid cycle disorder · Krebs cycle disorder

Trichinellosis

Trichinosis

Tricho-dento-osseous syndrome

TDO syndrome

Tricho-retino-dento-digital syndrome

Bork syndrome · Uncombable hair-retinal pigmentary dystrophy-dental anomalies-brachydactyly syndrome

Trichodental syndrome

Kersey syndrome

Trichodermodysplasia-dental alterations syndrome

Pinheiro-Freire Maia-Miranda syndrome

Trichodysplasia-amelogenesis imperfecta syndrome

Trichodysplasia-xeroderma syndrome

Trichofolliculoma

Trichohepatoenteric syndrome

Syndromic diarrhea · Phenotypic diarrhea

Trichomegaly-retina pigmentary degeneration-dwarfism syndrome

Oliver-McFarlane syndrome · Long eyelashes-intellectual disability syndrome

Trichoodontoonychial dysplasia

Trichoodontoonychial dysplasia with bone deficiency in frontoparietal region