List of rare diseases-U

NIH genetic and rare disease info

• NIH info on List of rare diseases-U

List of rare diseases-U is a rare disease.

• UCD
• UCMD
• UCTD- not a rare disease.
• UDA syndrome
• UDP-Galactose-4-epimerase deficiency
• UFS
• Uhl anomaly
• Uhl's anomaly
• Ulbright Hodes syndrome
• Ulcerative colitis, pediatric
• Ulcerative proctitis
• Ulceronecrotic Mucha-Habermann disease
• Ulerythema ophryogenesis
• Ullrich congenital muscular dystrophy
• Ullrich disease
• Ullrich scleroatonic muscular dystrophy
• Ullrich-Noonan syndrome
• Ullrich-Turner syndrome
• Ulna and fibula absence of with severe limb deficiency
• Ulna and fibula, hypoplasia of
• Ulna hypoplasia
• Ulna hypoplasia-intellectual disability syndrome
• Ulna metaphyseal dysplasia syndrome
• Ulnar hypoplasia
• Ulnar hypoplasia lobster claw deformity of feet
• Ulnar-mammary syndrome
• Ulnar-mammary syndrome of Pallister
• Ulrich-Feichtiger syndrome
• Umbilical cord ulcer with intestinal atresia
• Umbilical cord ulceration and intestinal atresia
• Umbilical cord, short
• Umbilical ulceration and intestinal atresia
• UMOD-Associated Kidney Disease
• UMOD-related ADTKD
• UMOD-related autosomal dominant tubulointerstitial kidney disease
• UMP synthtase deficiency
• UMPS
• UMPS deficiency
• UMS
• Unclassified acute myeloid leukemia
• Unclassified AML
• Uncombable hair syndrome
• Uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly
• Undervirilized male syndrome
• Undifferentiated acute leukemia
• Undifferentiated connective tissue disease- not a rare disease.
• Undifferentiated connective tissue syndrome- not a rare disease.
• Undifferentiated pleomorphic sarcoma
• Undulant fever
• Unicentric angiofollicular ganglionic hyperplasia
• Unicentric angiofollicular lymph hyperplasia
• Unicentric Castleman disease
• Unilateral absence of a pulmonary artery
• Unilateral agenesis of diaphragm
• Unilateral aplasia of the optic nerve with cryptophthalmus and contralateral microphthalmus
• Unilateral defect of pectoralis muscle and syndactyly of the hand
• Unilateral lobar pulmonary agenesis
• Unilateral loss of facial flushing and sweating with contralateral anhidrosis
• Unilateral lung agenesis
• Unilateral Megalencephaly
• Unilateral radio-ulnar synostosis, generalized hypotonia, developmental retardation, and a characteristic facial appearance
• Unilateral upper eyelid coloboma, aberrant anterior hairline pattern, and anal anomalies
• Uniparental disomy 1q12 q21
• Uniparental disomy of 16
• Uniparental disomy of 5
• Uniparental disomy of 10
• Uniparental disomy of 11
• Uniparental disomy of 2
• Uniparental disomy of 21
• Uniparental disomy of chromosome 11
• Uniparental disomy of chromosome 2
• Uniparental disomy of chromosome 6
• Universal acquired melanosis
• Unmanageable hair syndrome
• Unna-Thost palmoplantar keratoderma
• Unusual facial appearance, bone fragility, hyperphosphatasemia, and hypophosphatemia
• Unusual facial appearance, microcephaly, growth and mental retardation and syndactyly
• Unusual facial appearance, skeletal deformities, and musculoskeletal and sensory defects
• Unusual facies, cleft palate, mental retardation, and limb abnormalities
• Unusual facies, cleft palate, short stature, and mental retardation
• Unusual facies, digital abnormalities, and ichthyosis
• Unusual facies, hooked clavicles, 13 pairs of ribs, widened metaphyses, square shaped vertebral bodies and communicating hydrocephalus
• Unverricht-Lundborg disease
• UPD 2
• UPD(14)mat
• UPD(16)
• UPD(6)mat
• UPD(6)pat
• Upington disease
• Upper limb malformations and congenital cardiac anomalies
• Upper limb mesomelic dysplasia
• UPS
• UPS deficiency
• Upshaw factor, deficiency of
• Upshaw-Schulman syndrome
• Urachal adenocarcinoma
• Urachal cancer
• Urachal carcinoma
• Urachal cyst
• Urbach Wiethe disease
• Urban-Rogers-Meyer syndrome
• Urban-Schosser-Spohn syndrome
• Urea cycle disorder, arginino succinase type
• Urea cycle disorders
• Urethral cancer
• Urethral duplication
• Urethral obstruction sequence
• Uridine diphosphate galactose-4-epimerase deficiency
• Uridine monophosphate synthase deficiency
• Uridine monophosphate synthetase deficiency
• Urioste syndrome
• Urocanase deficiency
• Urofacial Ochoa's syndrome
• Urofacial syndrome
• Urogenital adysplasia
• Uromodulin kidney disease
• Uromodulin-associated kidney disease
• Uropathy distal obstructive polydactyly
• Uroporphyrinogen III synthase, deficiency of
• Uroporphyrinogen synthase deficiency
• UROS deficiency
• Urticaria idiopathic cold
• Urticaria pigmentosa- not a rare disease.
• Urticaria, deafness and amyloidosis
• Urticaria-deafness-amyloidosis syndrome
• US1
• US2
• US2B
• USH1
• USH1A
• USH1C
• USH1D
• USH1E
• USH1F
• USH2
• USH2A
• USH2B
• USH2C
• USH3
• USH3A
• Usher syndrome
• Usher syndrome type 2A
• Usher syndrome type 3A
• Usher syndrome, Acadian variety
• Usher syndrome, type 1
• Usher syndrome, type 1A
• 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
• Usher's syndrome
• USS
• Uterine adenosarcoma
• Uterine Carcinosarcoma
• Uterine sarcoma
• Uterine synechiae
• UV sensitive syndrome
• Uveal coloboma-cleft lip and palate-intellectual disability
• Uveal coloboma-cleft lip/palate-mental retardation syndrome (formerly)
• Uveal diseases
• Uveal melanoma
• Uveomenigitic syndrome
• UVSS

NIH genetic and rare disease info

• NIH info on List of rare diseases-U

List of rare diseases-U is a rare disease.