Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Search for Rare or Genetic Diseases


Diseases Beginning With U

The purpose of the Rare Diseases and Related Terms list is to distribute information; although the list is updated regularly, it should not be used as a reference or guarantee that a condition is rare. The prevalence of a rare disease is usually an estimate and may change over time. A rare (or orphan) disease is generally considered to have a prevalence of fewer than 200,000 affected individuals in the United States.

* This symbol indicates that a condition is not rare but is one for which a question has been answered by the GARD Information Center.
Is Rare Condition? Disease Name
* UCD - See Urea cycle disorders
* UCMD - See Ullrich congenital muscular dystrophy
* UDA syndrome - See Muckle-Wells syndrome
* UDD Myopathy - See Distal myopathy Markesbery-Griggs type
* UDP-Galactose-4-epimerase deficiency - See Galactose epimerase deficiency
* UFS - See Ochoa syndrome
* Uhl anomaly
* Uhl's anomaly - See Uhl anomaly
* UIP - See Usual interstitial pneumonia
* 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 - See Burnett Schwartz Berberian syndrome
* 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
* Ulna and fibula, hypoplasia of
* Ulna hypoplasia - See Fryns Hofkens Fabry syndrome
* Ulna hypoplasia with mental retardation
* 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-related kidney disease - See Familial juvenile hyperuricaemic nephropathy
* 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
* 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 biphenotypic leukemia
* Undulant fever - See Brucellosis
* 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 13
* 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, paternal, chromosome 14
* 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 pectus carinatum joint laxity - See Guizar Vasquez Sanchez Manzano 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
* Unusual triangular facies associated with cleft palate, malocclusion, midfacial hypoplasia and sensorineural hearing loss - See Cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss
* Unverricht-Lundborg disease
* UPD 2 - See Uniparental disomy of chromosome 2
* 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 deficiency - See Acute intermittent porphyria
* Upshaw factor, deficiency of - See Thrombotic thrombocytopenic purpura, congenital
* Upshaw-Schulman syndrome - See Thrombotic thrombocytopenic purpura, congenital
* Upton Young syndrome
* 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 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
* Urogenital adysplasia, hereditary
* Urolithiasis, hypercalciuric x-linked - See Dent disease 1
* Uromodulin-associated kidney disease - See Familial juvenile hyperuricaemic nephropathy
* Uropathy distal obstructive polydactyly
* Uroporphyrinogen III synthase, deficiency of - See Congenital porphyria
* Uroporphyrinogen synthase deficiency - See Acute intermittent porphyria
* UROS deficiency - See Congenital porphyria
* Urticaria idiopathic cold - See Cold contact urticaria
* Urticaria pigmentosa - See Cutaneous mastocytosis
* Urticaria, cold - See Cold contact urticaria
* 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, type 2B
* USH1 - See Usher syndrome, type 1
* USH1A - See Usher syndrome, type 1
* USH1C - See Usher syndrome, type 1C
* USH1D - See Usher syndrome, type 1D
* USH1E - See Usher syndrome, type 1E
* USH1F - See Usher syndrome, type 1F
* USH2 - See Usher syndrome type 2A
* USH2A - See Usher syndrome type 2A
* USH2B - See Usher syndrome, type 2B
* USH2C - See Usher syndrome, type 2C
* USH3 - See Usher syndrome type 3
* USH3A - See Usher syndrome type 3
* Usher syndrome
* Usher syndrome type 2A
* Usher syndrome type 3
* Usher syndrome, Acadian variety - See Usher syndrome, type 1C
* Usher syndrome, type 1
* Usher syndrome, type 1A - See Usher syndrome, type 1
* Usher syndrome, type 1B
* Usher syndrome, type 1C
* Usher syndrome, type 1D
* Usher syndrome, type 1E
* Usher syndrome, type 1F
* Usher syndrome, type 2B
* Usher syndrome, type 2C
* Usher syndrome, type I, French variety - See Usher syndrome, type 1
* Usher's syndrome - See Usher syndrome
* USS - See Thrombotic thrombocytopenic purpura, congenital
* Usual interstitial pneumonia
* Uterine adenosarcoma - See Adenosarcoma of the uterus
* Uterine sarcoma
* Uterine synechiae - See Asherman's syndrome
* Uterus bipartitus solidus rudimentarius cum vagina solida - See Mayer-Rokitansky-Kuster-Hauser syndrome
* UV sensitive syndrome
* Uveal coloboma-cleft lip/palate-mental retardation syndrome - See Coloboma, cleft lip/palate and mental retardation syndrome
* Uveal diseases
* Uveal melanoma - See Intraocular melanoma
* UVSS - See UV sensitive syndrome