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

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





Browse the GARD list of rare diseases and related terms to find topics of interest to you. This list includes the main name for each condition, as well as alternate names. Inclusion on this list does not serve as official recognition by the NIH that a disease is rare. Some conditions that are not considered rare are on this list and are labeled accordingly.Read more about which diseases are included on the GARD website.



U 1/1

• 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 ophryogenes with multiple congenital anomalies - See Burnett Schwartz Berberian syndrome
• 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 UMOD-related autosomal dominant tubulointerstitial kidney disease
• UMOD-related ADTKD - See UMOD-related autosomal dominant tubulointerstitial kidney disease
• UMOD-related autosomal dominant tubulointerstitial kidney disease
• 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 linear basal cell nevus associated with diffuse osteoma cutis, unilateral anodontia, and abnormal bone mineralization - See Aloi Tomasini Isaia 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 6
• 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
• Universal acquired melanosis - See Carbon baby syndrome
• 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
• 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 UMOD-related autosomal dominant tubulointerstitial kidney disease
• Uromodulin-associated kidney disease - See UMOD-related autosomal dominant tubulointerstitial kidney disease
• 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