MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes
3,968 diseases matched (Disease) Reset

Tyrosinemia type 2

ORPHA:28378Disease
Autosomal recessive

Tyrosinemia type 3

ORPHA:69723Disease
Autosomal recessive

UV-sensitive syndrome

ORPHA:178338Disease
Autosomal recessive

Ulerythema ophryogenesis

ORPHA:3406Disease
Autosomal dominant, Not applicable

Ullrich congenital muscular dystrophy

ORPHA:75840Disease
Autosomal dominant, Autosomal recessive

Unclassified myelodysplastic syndrome

ORPHA:98827Disease
Not applicable

Unclassified vasculitis

ORPHA:251328Disease
Not applicable

Uncombable hair syndrome

ORPHA:1410Disease
Autosomal recessive

Undifferentiated carcinoma of esophagus

ORPHA:418951Disease
Not applicable

Undifferentiated carcinoma of liver and intrahepatic biliary tract

ORPHA:424970Disease
Not applicable

Undifferentiated carcinoma of stomach

ORPHA:423786Disease
Not applicable

Undifferentiated carcinoma with osteoclast-like giant cells of pancreas

ORPHA:424080Disease
Not applicable

Undifferentiated pleomorphic sarcoma

ORPHA:2023Disease
Not applicable

Unexplained long-lasting fever/inflammatory syndrome

ORPHA:251332Disease

Unspecified juvenile idiopathic arthritis

ORPHA:91140Disease

Unstable alpha globin chain variant disease

ORPHA:707789Disease
Autosomal dominant

Unstable beta globin chain variant disease

ORPHA:231226Disease
Autosomal dominant

Unstable gamma globin chain variant disease

ORPHA:707792Disease
Autosomal dominant

Upper tract urothelial carcinoma

ORPHA:598216Disease

Urachal carcinoma

ORPHA:695020Disease
Not applicable

Urocanic aciduria

ORPHA:210128Disease
Autosomal recessive

Usher syndrome

ORPHA:886Disease
Autosomal recessive

Uveal melanoma

ORPHA:39044Disease
Not applicable

VEXAS syndrome

ORPHA:596753Disease
Not applicable