U
UAPA
UCMD
UCTD
Udd myopathy
UDP-galactose-4-epimerase deficiency
UES
UGT deficiency
UGT deficiency type 1
UGT deficiency type 2
Uhl anomaly
UIP
Ulbright-Hodes syndrome
Ulcerative pyoderma gangrenosum
ULD
Ulerythema ophryogenesis
Ulick syndrome
Ullrich disease
Ulna hypoplasia
Ulna hypoplasia-intellectual disability syndrome
Ulna metaphyseal dysplasia syndrome
Ulnar clubhand
Ulnar/fibula ray defect-brachydactyly syndrome
Ulnar hemimelia
Ulnar hypoplasia-lobster-claw deformity of feet syndrome
Ulnar hypoplasia-split foot syndrome
Ulnar longitudinal meromelia
Ulnar-mammary syndrome
Umbilical cord ulceration-intestinal atresia syndrome
UMOD-related ADTKD
UMOD-related autosomal dominant tubulointerstitial kidney disease
UMPH1 deficiency
UMS
Unclassified acute myeloid leukemia
Unclassified AML
Unclassified autoinflammatory syndrome
Unclassified autoinflammatory syndrome of childhood
Unclassified cardiomyopathy
Unclassified genetic skin disorder
Unclassified intestinal pseudoobstruction
Unclassified mixed myelodysplastic/myeloproliferatic syndrome
Unclassified myelodysplastic/myeloproliferative disease
Unclassified myelodysplastic syndrome
Unclassified vasculitis
Uncombable hair-retinal pigmentary dystrophy-dental anomalies-brachydactyly syndrome
Uncombable hair syndrome
Uncomplicated familial spastic paraplegia
Uncomplicated hereditary spastic paraplegia
Uncomplicated HSP
Uncomplicated SPG
Undetermined colitis
Undetermined early-onset epileptic encephalopathy
Undetermined EOEE
Undifferentiated carcinoma of esophagus
Undifferentiated carcinoma of liver and IBT
Undifferentiated carcinoma of liver and intrahepatic biliary tract
Undifferentiated carcinoma of pancreas with osteoclast-like giant cells
Undifferentiated carcinoma of stomach
Undifferentiated carcinoma of the corpus uteri
Undifferentiated connective tissue syndrome
Undifferentiated embryonal sarcoma of the liver
Undifferentiated esophageal carcinoma
Undifferentiated gastric carcinoma
Undifferentiated myeloproliferative disease
Undifferentiated pleomorphic sarcoma
Undifferentiated sarcoma of the liver
Unexplained long-lasting fever/inflammatory syndrome
Unexplained periodic fever syndrome
Unexplained periodic fever syndrome of childhood
Unicameral bone cyst
Unicervical bicornuate uterus
Unicornuate uterus
Unicornuate uterus without rudimentary horn
Unicornuate uterus with rudimentary horn
Unilateral aplasia of the Müllerian ducts
Unilateral congenital megacalycosis
Unilateral focal polymicrogyria
Unilateral hemispheric polymicrogyria
Unilateral MCDK
Unilateral megalencephaly
Unilateral multicystic dysplastic kidney
Unilateral multicystic renal dysplasia
Unilateral or bilateral and asymmetric otomandibular dysplasia
Unilateral polymicrogyria
Unilateral Pulmonary Artery Absence
Unilateral pulmonary artery agenesis
Unilateral Pulmonary Artery Hypoplasia
Unilateral syndactyly of digits 2-5
Uniparental disomy of chromosome 1
Uniparental disomy of chromosome 11
Uniparental disomy of chromosome 13
Uniparental disomy of chromosome 14
Uniparental disomy of chromosome 15
Uniparental disomy of chromosome 20
Uniparental disomy of chromosome 21
Uniparental disomy of chromosome 6
Uniparental disomy of chromosome 7
Uniparental disomy of chromosome X
Univentricular cardiopathy
Univentricular heart
Univentricular heart with single atrio-ventricular valve
Universal melanosis
Universal mesentery
Unroofed coronary sinus
Unspecified JIA
Unspecified juvenile idiopathic arthritis
Unspecified mitochondrial disorder
Unstable hemoglobin disease
Unverricht-Lundborg disease
UPD(1)
UPD(11)
UPD(11)mat
UPD(11)pat
UPD(13)
UPD(13)mat
UPD(13)pat
UPD(14)
UPD(14)mat
UPD(14)pat
UPD(15)
UPD(15)mat
UPD(15)pat
UPD(16)mat
UPD(1)mat
UPD(1)pat
UPD(20)
UPD(20)mat
UPD(20)pat
UPD(21)
UPD(21)mat
UPD(21)pat
UPD(22)mat
UPD(2)mat
UPD(4)mat
UPD(5)pat
UPD(6)
UPD(6)mat
UPD(6)pat
UPD(7)
UPD(7)mat
UPD(7)pat
UPD(9)mat
UPD(X)
UPD(X)mat
UPD(X)pat
Upington disease
Upper limb defect-eye and ear abnormalities syndrome
Upper limb hypertrophy
Upper limb mesomelic dysplasia
Upper thoracic spina bifida aperta
Upper thoracic spina bifida cystica
UPS
Upshaw-Schulman syndrome
Urachal cyst
Urachal diverticulum
Urachal sinus
Urbach-Wiethe disease
Urban-Rifkin-Davis syndrome
Urban-Rogers-Meyer syndrome
Urban-Schosser-Spohn syndrome
Uremic pruritus
Urethral atresia
Uridine 5′-monophosphate hydrolase deficiency
Uridine diphosphate galactose-4-epimerase deficiency
Uridine monophosphate synthetase deficiency
Urioste syndrome
Urocanic aciduria
Urofacial syndrome
Urogenital tract malformation
Uromodulin-associated kidney disease
Uromodulin kidney disease
Urrets-Zavalia syndrome
Urticaria pigmentosa
USH
USH1
USH2
USH3
Usher syndrome
Usher syndrome type 1
Usher syndrome type 2
Usher syndrome type 3
USP18 deficiency
Usual interstitial pneumonia
Uterine carcinosarcoma
Uterine cervical aplasia and agenesis
Uterine hypoplasia
Uteroplacental vascular insufficiency
Uterovaginal malformation
Uterus arcuatus
Uterus cordiformis
Uterus subseptus
Uveal coloboma-cleft lip and palate-intellectual disability
Uveal melanoma
Uveitis
Uveomenigitic syndrome
UV-sensitive syndrome
Uvular cleft