Browse A-Z | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program [U]

Browse A-Z | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program

• UCD - See Urea cycle disorders
• UCMD - See Ullrich congenital muscular dystrophy
• UCTD - See Undifferentiated connective tissue disease - not a rare disease
• UDA syndrome - See Muckle-Wells syndrome
• UDP-Galactose-4-epimerase deficiency - See Galactose epimerase deficiency
• UFS - See Ochoa syndrome
• Uhl anomaly
• Uhl's anomaly - See Uhl anomaly
• Ulbright Hodes syndrome - See Renal dysplasia-limb defects syndrome
• Ulcerative colitis, pediatric - See Pediatric ulcerative colitis
• Ulcerative proctitis
• Ulceronecrotic Mucha-Habermann disease - See Febrile Ulceronecrotic Mucha-Habermann disease
• Ulerythema ophryogenesis
• Ullrich congenital muscular dystrophy
• Ullrich disease - See Ullrich congenital muscular dystrophy
• Ullrich scleroatonic muscular dystrophy - See Ullrich congenital muscular dystrophy
• Ullrich-Noonan syndrome - See Noonan syndrome
• Ullrich-Turner syndrome - See Turner syndrome
• Ulna and fibula absence of with severe limb deficiency - See Al-Awadi-Raas-Rothschild syndrome
• Ulna and fibula, hypoplasia of
• Ulna hypoplasia - See Fryns Hofkens Fabry syndrome
• Ulna hypoplasia-intellectual disability syndrome
• Ulna metaphyseal dysplasia syndrome
• Ulnar hypoplasia - See Fryns Hofkens Fabry syndrome
• Ulnar hypoplasia lobster claw deformity of feet
• Ulnar-mammary syndrome
• Ulnar-mammary syndrome of Pallister - See Ulnar-mammary syndrome
• Ulrich-Feichtiger syndrome - See Fraser syndrome
• Umbilical cord ulcer with intestinal atresia - See Umbilical cord ulceration and intestinal atresia
• Umbilical cord ulceration and intestinal atresia
• Umbilical cord, short - See Limb-body wall complex
• Umbilical ulceration and intestinal atresia - See Umbilical cord ulceration and intestinal atresia
• UMOD-Associated Kidney Disease - See Autosomal dominant tubulointerstitial kidney disease due to UMOD mutations
• UMOD-related ADTKD - See Autosomal dominant tubulointerstitial kidney disease due to UMOD mutations
• UMOD-related autosomal dominant tubulointerstitial kidney disease - See Autosomal dominant tubulointerstitial kidney disease due to UMOD mutations
• UMP synthtase deficiency - See Orotic aciduria type 1
• UMPS - See Orotic aciduria type 1
• UMPS deficiency - See Orotic aciduria type 1
• UMS - See Ulnar-mammary syndrome
• Unclassified acute myeloid leukemia
• Unclassified AML - See Unclassified acute myeloid leukemia
• Uncombable hair syndrome
• Uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly - See Bork Stender Schmidt syndrome
• Undervirilized male syndrome - See Androgen insensitivity syndrome, mild
• Undifferentiated acute leukemia - See Acute leukemia of ambiguous lineage
• Undifferentiated connective tissue disease - not a rare disease
• Undifferentiated connective tissue syndrome - See Undifferentiated connective tissue disease - not a rare disease
• Undifferentiated pleomorphic sarcoma
• Undulant fever - See Brucellosis
• Unicentric angiofollicular ganglionic hyperplasia - See Unicentric Castleman disease
• Unicentric angiofollicular lymph hyperplasia - See Unicentric Castleman disease
• Unicentric Castleman disease
• Unilateral absence of a pulmonary artery
• Unilateral agenesis of diaphragm - See Congenital diaphragmatic hernia
• Unilateral aplasia of the optic nerve with cryptophthalmus and contralateral microphthalmus - See Oculo-cerebral dysplasia
• Unilateral defect of pectoralis muscle and syndactyly of the hand - See Poland syndrome
• Unilateral lobar pulmonary agenesis - See Lung agenesis
• Unilateral loss of facial flushing and sweating with contralateral anhidrosis - See Harlequin syndrome
• Unilateral lung agenesis - See Lung agenesis
• Unilateral Megalencephaly - See Hemimegalencephaly
• Unilateral radio-ulnar synostosis, generalized hypotonia, developmental retardation, and a characteristic facial appearance - See Der Kaloustian Mcintosh Silver syndrome
• Unilateral upper eyelid coloboma, aberrant anterior hairline pattern, and anal anomalies - See Manitoba oculotrichoanal syndrome
• Uniparental disomy 1q12 q21 - See Chromosome 1, uniparental disomy 1q12 q21
• Uniparental disomy of 16 - See Chromosome 16, uniparental disomy
• Uniparental disomy of 5 - See Chromosome 5, uniparental disomy
• Uniparental disomy of 10 - See Chromosome 10, uniparental disomy
• Uniparental disomy of 11 - See Uniparental disomy of chromosome 11
• Uniparental disomy of 2 - See Uniparental disomy of chromosome 2
• Uniparental disomy of 21 - See Chromosome 21, uniparental disomy
• Uniparental disomy of chromosome 11
• Uniparental disomy of chromosome 2
• Uniparental disomy of chromosome 6
• Universal acquired melanosis
• Unmanageable hair syndrome - See Uncombable hair syndrome
• Unna-Thost palmoplantar keratoderma
• Unusual facial appearance, bone fragility, hyperphosphatasemia, and hypophosphatemia - See Panostotic fibrous dysplasia
• Unusual facial appearance, microcephaly, growth and mental retardation and syndactyly - See Filippi syndrome
• Unusual facial appearance, skeletal deformities, and musculoskeletal and sensory defects - See Cyprus facial neuromusculoskeletal syndrome
• Unusual facies, cleft palate, mental retardation, and limb abnormalities - See Palant cleft palate syndrome
• Unusual facies, cleft palate, short stature, and mental retardation - See Feingold Trainer syndrome
• Unusual facies, digital abnormalities, and ichthyosis - See Ichthyosis tapered fingers midline groove up
• Unusual facies, hooked clavicles, 13 pairs of ribs, widened metaphyses, square shaped vertebral bodies and communicating hydrocephalus - See Kozlowski Brown Hardwick syndrome
• Unverricht-Lundborg disease
• UPD 2 - See Uniparental disomy of chromosome 2
• UPD(14)mat - See Temple syndrome
• UPD(16) - See Chromosome 16, uniparental disomy
• UPD(6)mat - See Uniparental disomy of chromosome 6
• UPD(6)pat - See Uniparental disomy of chromosome 6
• Upington disease
• Upper limb malformations and congenital cardiac anomalies - See Heart-hand syndrome, Spanish type
• Upper limb mesomelic dysplasia - See Fryns Hofkens Fabry syndrome
• UPS - See Undifferentiated pleomorphic sarcoma
• UPS deficiency - See Acute intermittent porphyria
• Upshaw factor, deficiency of - See Congenital thrombotic thrombocytopenic purpura
• Upshaw-Schulman syndrome - See Congenital thrombotic thrombocytopenic purpura
• Urachal adenocarcinoma
• Urachal cancer
• Urachal carcinoma - See Urachal cancer
• Urachal cyst
• Urbach Wiethe disease - See Lipoid proteinosis of Urbach and Wiethe
• Urban-Rogers-Meyer syndrome - See Prader-Willi habitus, osteopenia, and camptodactyly
• Urban-Schosser-Spohn syndrome - See Hereditary mucoepithelial dysplasia
• Urea cycle disorder, arginino succinase type - See Argininosuccinic aciduria
• Urea cycle disorders
• Urethral cancer
• Urethral duplication - See Duplication of urethra
• Urethral obstruction sequence
• Uridine diphosphate galactose-4-epimerase deficiency - See Galactose epimerase deficiency
• Uridine monophosphate synthase deficiency - See Orotic aciduria type 1
• Uridine monophosphate synthetase deficiency - See Orotic aciduria type 1
• Urioste syndrome - See Persistence of mullerian derivatives with lymphangiectasia and postaxial polydactyly
• Urocanase deficiency
• Urofacial Ochoa's syndrome - See Ochoa syndrome
• Urofacial syndrome - See Ochoa syndrome
• Urogenital adysplasia
• Uromodulin kidney disease - See Autosomal dominant tubulointerstitial kidney disease due to UMOD mutations
• Uromodulin-associated kidney disease - See Autosomal dominant tubulointerstitial kidney disease due to UMOD mutations
• Uropathy distal obstructive polydactyly
• Uroporphyrinogen III synthase, deficiency of - See Congenital erythropoietic porphyria
• Uroporphyrinogen synthase deficiency - See Acute intermittent porphyria
• UROS deficiency - See Congenital erythropoietic porphyria
• Urticaria idiopathic cold - See Cold urticaria
• Urticaria pigmentosa - See Maculopapular cutaneous mastocytosis - not a rare disease
• Urticaria, deafness and amyloidosis - See Muckle-Wells syndrome
• Urticaria-deafness-amyloidosis syndrome - See Muckle-Wells syndrome
• US1 - See Usher syndrome, type 1
• US2 - See Usher syndrome type 2A
• US2B - See Usher syndrome
• USH1 - See Usher syndrome, type 1
• USH1A - See Usher syndrome, type 1
• USH1C - See Usher syndrome
• USH1D - See Usher syndrome
• USH1E - See Usher syndrome
• USH1F - See Usher syndrome
• USH2 - See Usher syndrome type 2A
• USH2A - See Usher syndrome type 2A
• USH2B - See Usher syndrome
• USH2C - See Usher syndrome
• USH3 - See Usher syndrome type 3A
• USH3A - See Usher syndrome type 3A
• Usher syndrome
• Usher syndrome type 2A
• Usher syndrome type 3A
• Usher syndrome, Acadian variety - See Usher syndrome
• Usher syndrome, type 1
• Usher syndrome, type 1A - See Usher syndrome, type 1
• Usher syndrome, type 1B - See Usher syndrome
• Usher syndrome, type 1C - See Usher syndrome
• Usher syndrome, type 1D - See Usher syndrome
• Usher syndrome, type 1E - See Usher syndrome
• Usher syndrome, type 1F - See Usher syndrome
• Usher syndrome, type 2B - See Usher syndrome
• Usher syndrome, type 2C - See Usher syndrome
• Usher syndrome, type I, French variety - See Usher syndrome, type 1
• Usher's syndrome - See Usher syndrome
• USS - See Congenital thrombotic thrombocytopenic purpura
• Uterine adenosarcoma - See Adenosarcoma of the uterus
• Uterine Carcinosarcoma
• Uterine sarcoma
• Uterine synechiae - See Asherman's syndrome
• UV sensitive syndrome
• Uveal coloboma-cleft lip and palate-intellectual disability
• Uveal coloboma-cleft lip/palate-mental retardation syndrome (formerly) - See Uveal coloboma-cleft lip and palate-intellectual disability
• Uveal diseases
• Uveal melanoma - See Intraocular melanoma
• Uveomenigitic syndrome - See Vogt-Koyanagi-Harada disease
• UVSS - See UV sensitive syndrome