MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes

Transcobalamin deficiency

ORPHA:859Disease
Autosomal recessive

Transgrediens et progrediens palmoplantar keratoderma

ORPHA:495Disease

Transient erythroblastopenia of childhood

ORPHA:98871Disease

Transient familial neonatal hyperbilirubinemia

ORPHA:2312Disease

Transient hyperammonemia of the newborn

ORPHA:289877Situation

Transient infantile hypertriglyceridemia and hepatosteatosis

ORPHA:300293Disease
Autosomal recessive

Transient myeloproliferative syndrome

ORPHA:420611Disease
Not applicable

Transient neonatal diabetes mellitus

ORPHA:99886Disease
Autosomal dominant, Autosomal recessive, Not applicable

Transient neonatal multiple acyl-CoA dehydrogenase deficiency

ORPHA:329942Disease
Autosomal dominant

Transient neonatal myasthenia gravis

ORPHA:391504Clin. sub.
Not applicable

Transient predisposition to invasive pyogenic bacterial infection

ORPHA:70592Disease
Autosomal recessive

Transient pseudohypoaldosteronism

ORPHA:93164Disease
Not applicable

Transient tyrosinemia of the newborn

ORPHA:3402Disease

Transitional cell carcinoma of the corpus uteri

ORPHA:213746Disease

Transketolase deficiency

ORPHA:488618Malform.
Autosomal recessive

Transposition of the great arteries

ORPHA:216675Cat.
Multigenic/multifactorial, Not applicable

Treacher-Collins syndrome

ORPHA:861Malform.
Autosomal dominant, Autosomal recessive

Trehalase deficiency

ORPHA:103909Disease
Autosomal dominant

Tremor-ataxia-central hypomyelination syndrome

ORPHA:447896Clin. sub.
Autosomal recessive

Tremor-nystagmus-duodenal ulcer syndrome

ORPHA:3350Disease

Trench fever

ORPHA:64694Disease

Trichinellosis

ORPHA:863Disease
Not applicable

Tricho-dento-osseous syndrome

ORPHA:3352Malform.
Autosomal dominant

Tricho-retino-dento-digital syndrome

ORPHA:1264Malform.
Autosomal dominant