Rare Disease Library

Tubulinopathy-associated dysgyria

Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome

Tubulocystic renal cell carcinoma

Kidney cancer · RCC

Tubulointerstitial nephritis and uveitis syndrome

Dobrin syndrome · TINU syndrome

Tufted angioma

Nakagawa angioblastoma

Tularemia

Tumor necrosis factor receptor 1 associated periodic syndrome

Familial Hibernian fever · TNF receptor 1-associated periodic syndrome

Tumor of cranial and spinal nerves

Rare tumor of cranial and spinal nerves

Tumor of endocrine glands

Tumor of hematopoietic and lymphoid tissues

Tumor of meninges

Tumor of testis and paratestis

Testicular and paratesticular tumor

Tungiasis

Tunnel subaortic stenosis

Turcot syndrome with polyposis

Turner syndrome due to structural X chromosome anomalies

Turnpenny-Fry syndrome

PCGF2-related disorder · TPFS

Twin anemia-polycythemia sequence

TAPS

Twin to twin transfusion syndrome

Feto-fetal transfusion syndrome

Twin-reversed arterial perfusion sequence

TRAP

Type 1 interferonopathy

Type 1 interferonopathy of childhood

Type 11 collagen-related bone disorder

Type 2 collagen-related bone disorder

Typhoid

Typhoid fever · Typhoidal salmonellosis

Typhus-group rickettsiosis

Typhus-group rickettsiae disease

Typical nemaline myopathy

Typical urticaria pigmentosa

Tyrosinemia type 1

FAH deficiency · Fumarylacetoacetase deficiency

Tyrosinemia type 2

Keratosis palmoplantaris-corneal dystrophy syndrome · Oculocutaneous tyrosinemia

Tyrosinemia type 3

Tyrosinemia due to 4-hydroxyphenylpyruvate dioxygenase deficiency · Tyrosinemia due to 4-hydroxyphenylpyruvic acid oxidase deficiency

Uhl anomaly

Ulbright-Hodes syndrome

Renal dysplasia-limb defects syndrome · Renal dysplasia-mesomelia-radiohumeral fusion syndrome

Ulerythema ophryogenesis

Ullrich congenital muscular dystrophy

Ullrich scleroatonic muscular dystrophy · UCMD

Ulna hypoplasia-intellectual disability syndrome

Ulnar hypoplasia-split foot syndrome

Ulnar hypoplasia-lobster-claw deformity of feet syndrome · Van den Berghe-Dequecker syndrome

Ulnar-mammary syndrome

Pallister ulnar-mammary syndrome · Schinzel syndrome

Ulnar/fibula ray defect-brachydactyly syndrome

Morava-Mehes syndrome

Umbilical cord ulceration-intestinal atresia syndrome

UMOD-related autosomal dominant tubulointerstitial kidney disease

UMOD-related ADTKD · ADTKD-UMOD

Unclassified acute myeloid leukemia

Acute myeloid leukemia · AML

Unclassified autoinflammatory syndrome

Unclassified autoinflammatory syndrome of childhood

Unclassified cardiomyopathy

Unclassified genetic skin disorder

Unclassified intestinal pseudoobstruction

Unclassified myelodysplastic syndrome

MDS · Myelodysplastic syndromes

Unclassified myelodysplastic/myeloproliferative disease

MDS · Myelodysplastic syndromes