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

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