Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

10,911 rare diseases

Unclassified vasculitis

ORPHA:251328

Uncombable hair syndrome

Pili trianguli et canaliculi

ORPHA:1410

Undifferentiated carcinoma of esophagus

Undifferentiated esophageal carcinoma

ORPHA:418951

Undifferentiated carcinoma of liver and intrahepatic biliary tract

Undifferentiated carcinoma of liver and IBT

ORPHA:424970

Undifferentiated carcinoma of stomach

Undifferentiated gastric carcinoma

ORPHA:423786

Undifferentiated carcinoma of the corpus uteri

Endometrial undifferentiated carcinoma

ORPHA:213721

Undifferentiated carcinoma with osteoclast-like giant cells of pancreas

OGCT of pancreas · Pancreatic osteoclastic giant cell tumor

ORPHA:424080

Undifferentiated connective tissue syndrome

UCTD

ORPHA:90002

Undifferentiated embryonal sarcoma of the liver

Embryonal sarcoma of the liver · UES

ORPHA:178315

Undifferentiated pleomorphic sarcoma

UPS

ORPHA:2023

Unexplained long-lasting fever/inflammatory syndrome

Persistent fever/inflammation of unknown origin

ORPHA:251332

Unexplained periodic fever syndrome

ORPHA:102237

Unexplained periodic fever syndrome of childhood

ORPHA:324960

Unicentric Castleman disease

Localized Castleman disease

ORPHA:93685

Unicervical bicornuate uterus

ORPHA:180114

Unifocal Langerhans cell histiocytosis

Unifocal histiocytosis X · Unifocal Langerhans cell granulomatosis

ORPHA:687730

Unilateral aplasia of the Müllerian ducts

Unicornuate uterus

ORPHA:180071

Unilateral congenital megacalycosis

ORPHA:93176

Unilateral focal polymicrogyria

ORPHA:268947

Unilateral hemispheric polymicrogyria

ORPHA:101071

Unilateral multicystic dysplastic kidney

Unilateral MCDK · Unilateral multicystic renal dysplasia

ORPHA:97363

Unilateral ocular duplication

Unilateral diplophthalmia · Unilateral diplophthalmos

ORPHA:3374

Unilateral polymicrogyria

ORPHA:268943

Uniparental disomy of chromosome X syndrome

UPD(X)

ORPHA:263793

Univentricular cardiopathy

ORPHA:95483

Univentricular heart

Double inlet atrioventricular connection

ORPHA:1464

Unspecified juvenile idiopathic arthritis

Unspecified JIA

ORPHA:91140

Unspecified mitochondrial disorder

ORPHA:254837

Unstable alpha globin chain variant disease

ORPHA:707789

Unstable beta globin chain variant disease

Inclusion body beta-thalassemia · Autosomal dominant beta-thalassemia

ORPHA:231226

Unstable gamma globin chain variant disease

ORPHA:707792

Upington disease

Hip dysplasia-enchondromata-ecchondroma syndrome

ORPHA:3408

Upper limb defect-eye and ear abnormalities syndrome

ORPHA:2489

Upper limb hypertrophy

ORPHA:295049

Upper limb mesomelic dysplasia, type Fryns

Fryns-Hofkens-Fabry syndrome

ORPHA:2497

Upper tract urothelial carcinoma

UTUC · Transitional cell carcinoma of the upper urinary tract

ORPHA:598216

Urachal cyst

ORPHA:488

Urachal diverticulum

Vesicourachal diverticulum

ORPHA:431347

Urachal sinus

ORPHA:431344

Urban-Rogers-Meyer syndrome

Intellectual disability-short stature-hand contractures-genital anomalies syndrome · Prader-Willi habitus-osteopenia-camptodactyly syndrome

ORPHA:3409

Uremic pruritus

ORPHA:94059

Urocanic aciduria

Encephalopathy due to urocanase deficiency

ORPHA:210128

Urofacial syndrome

Hydronephrosis-inverted smile syndrome · Ochoa syndrome

ORPHA:2704

Urogenital tract malformation

ORPHA:83001

Usher syndrome

Retinitis pigmentosa-deafness syndrome · USH

ORPHA:886

Usher syndrome type 1

USH1

ORPHA:231169

Usher syndrome type 2

USH2

ORPHA:231178

Usher syndrome type 3

USH3

ORPHA:231183