Disease Name Symbol Acronym
Ubiquitin-Activating Enzyme, Y-Linked UBQ002
Ulcer of Anus and Rectum ULC002
Ulcer of Lower Limbs ULC005
Ulceration of Vulva ULC001
Ulcerative Blepharitis ULC003
Ulcerative Colitis ULC004 UC
Ulcerative Proctitis ULC008
Ulcerative Stomatitis ULC007
Ulceroglandular Tularemia ULC006
Ulerythema Ophryogenesis ULR001
Ullrich Congenital Muscular Dystrophy 1 ULL002 UCMD1
Ullrich Congenital Muscular Dystrophy 2 ULL003 UCMD2
Ulna and Fibula, Absence of, with Severe Limb Deficiency ULN017 LPHAS
Ulna and Fibula, Hypoplasia of ULN005
Ulna Hypoplasia-Intellectual Disability Syndrome ULN019
Ulna Metaphyseal Dysplasia Syndrome ULN007
Ulnar Agenesis and Endocardial Fibroelastosis ULN025
Ulnar Hemimelia ULN014
Ulnar Hypoplasia ULN023
Ulnar Hypoplasia with Lobster-Claw Deformity of Feet ULN021
Ulnar Hypoplasia with Mental Retardation ULN022
Ulnar Nerve Lesion ULN002
Ulnar Neuropathy ULN001
Ulnar Ray Dysgenesis with Postaxial Polydactyly and Renal Cystic Dysplasia ULN026
Ulnar/fibular Ray Defect and Brachydactyly ULN024
Ulnar-Mammary Syndrome ULN003 UMS
Umbilical Cord Ulceration and Intestinal Atresia UMB001
Umbilical Hernia UMB002
Umbilicus, Familial Flat UMB003
Unc80 Deficiency UNC020
Unclassified Acute Myeloid Leukemia UNC013
Unclassified Autoinflammatory Syndrome UNC023
Unclassified Autoinflammatory Syndrome of Childhood UNC022
Unclassified Cardiomyopathy UNC021
Unclassified Genetic Skin Disorder UNC024
Unclassified Intestinal Pseudoobstruction UNC010
Unclassified Myelodysplastic Syndrome UNC008
Unclassified Myelodysplastic/myeloproliferative Disease UNC009
Unclassified Rare Disease UNC025
Unclassified Vasculitis UNC016
Uncombable Hair Syndrome 1 UNC017 UHS1
Uncombable Hair Syndrome 2 UNC019 UHS2
Uncombable Hair Syndrome 3 UNC018 UHS3
Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, and Brachydactyly UNC015
Undetermined Colitis UND004
Undetermined Early-Onset Epileptic Encephalopathy UND011
Undifferentiated Carcinoma of Esophagus UND008
Undifferentiated Carcinoma of Liver and Intrahepatic Biliary Tract UND010
Undifferentiated Carcinoma of Stomach UND009
Undifferentiated Carcinoma of the Corpus Uteri UND002
Undifferentiated Connective Tissue Disease UND007 UCTD
Undifferentiated Embryonal Sarcoma of the Liver UND001 UES
Undifferentiated Pleomorphic Sarcoma UND005 UPS
Undritz Anomaly UND012
Unexplained Long-Lasting Fever/inflammatory Syndrome UNX003
Unexplained Periodic Fever Syndrome UNX005
Unexplained Periodic Fever Syndrome of Childhood UNX004
Unicentric Castleman Disease UNC014
Unicervical Bicornuate Uterus UNC003
Unilateral Absence of a Pulmonary Artery UNL013
Unilateral Aplasia of the Mullerian Ducts UNL015
Unilateral Congenital Megacalycosis UNL009
Unilateral Focal Polymicrogyria UNL006
Unilateral Hemispheric Polymicrogyria UNL012
Unilateral Hyperactive Labyrinth UNL001
Unilateral Hypoactive Labyrinth UNL003
Unilateral Multicystic Dysplastic Kidney UNL014
Unilateral Polymicrogyria UNL005
Unilateral Retinoblastoma UNL002
Uniparental Disomy of Chromosome 1 UNP013
Uniparental Disomy of Chromosome 11 UNP003
Uniparental Disomy of Chromosome 13 UNP010
Uniparental Disomy of Chromosome 14 UNP011
Uniparental Disomy of Chromosome 15 UNP008
Uniparental Disomy of Chromosome 2 UNP004 UPD 2
Uniparental Disomy of Chromosome 20 UNP009
Uniparental Disomy of Chromosome 6 UNP007
Uniparental Disomy of Chromosome 7 UNP012
Unique Green Phenomenon UNQ001
Univentricular Cardiopathy UNV003
Univentricular Heart UNV002
Univentricular Heart with Single Atrio-Ventricular Valve UNV004
Universal Acquired Melanosis UNV005
Unna-Thost Palmoplantar Keratoderma UNN001
Unspecified Juvenile Idiopathic Arthritis UNS002
Unspecified Mitochondrial Disorder UNS003
Unstable Hemoglobin Disease UNS001
Unverricht-Lundborg Syndrome UNV001 PME
Upington Disease UPN001
Upper Clivus Meningioma UPP001
Upper Gum Cancer UPP003
Upper Limb Hypertrophy UPP009
Upper Lip Cancer UPP002
Upper Respiratory Tract Disease UPP004
Upper Thoracic Spina Bifida Aperta UPP008
Upper Thoracic Spina Bifida Cystica UPP007
Urachal Adenocarcinoma URC003
Urachal Cancer URC004
Urachal Cyst URC005
Urachal Diverticulum URC013
Urachal Sinus URC012
Urachus Cancer URC001
Urate Oxidase, Pseudogene URT049 UOX
Urate-Binding Globulin, Decrease in URT048
Urea Cycle Disorder URC002 UCD
Uremia URM002
Uremic Neuropathy URM001
Uremic Pruritus URM005
Ureter Adenocarcinoma URT009
Ureter Inverted Papilloma URT007
Ureter Leiomyoma URT022
Ureter Small Cell Carcinoma URT013
Ureter Squamous Cell Carcinoma URT021
Ureter Transitional Cell Carcinoma URT028
Ureter Tuberculosis URT025
Ureter Urothelial Papilloma URT029
Ureter, Bifid or Double URT050
Ureter, Cancer of URT051
Ureteral Benign Neoplasm URT030
Ureteral Disease URT031
Ureteral Lymphoma URT017
Ureteral Obstruction URT010
Ureteric Orifice Cancer URT023
Ureterocele URT020
Ureterolithiasis URT014
Urethra Adenocarcinoma URT032
Urethra Cancer URT033
Urethra Clear Cell Adenocarcinoma URT024
Urethra Inverted Papilloma URT006
Urethra Leiomyoma URT012
Urethra Squamous Cell Carcinoma URT034
Urethra Transitional Cell Carcinoma URT018
Urethral Benign Neoplasm URT035
Urethral Calculus URT011
Urethral Cancer URT040
Urethral Diverticulum URT016
Urethral False Passage URT015
Urethral Gland Abscess URT019
Urethral Intrinsic Sphincter Deficiency URT002
Urethral Obstruction Sequence URT041 EUOS
Urethral Stricture URT037
Urethral Syndrome URT004
Urethral Urothelial Papilloma URT038
Urethral Verrucous Carcinoma URT005
Urethral Villous Adenoma URT003
Urethritis URT001
Uric Acid Concentration, Serum, Quantitative Trait Locus 1 URC014 UAQTL1
Uric Acid Concentration, Serum, Quantitative Trait Locus 4 URC015 UAQTL4
Uric Acid Concentration, Serum, Quantitative Trait Locus 5 URC016 UAQTL5
Uric Acid Concentration, Serum, Quantitative Trait Locus 6 URC017 UAQTL6
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due to URD002 P5ND
Uridine-Cytidineuria URD003 URCTU
Urinary Bladder Anterior Wall Cancer URN007
Urinary Bladder Inverted Papilloma URN004
Urinary Bladder Posterior Wall Cancer URN006
Urinary Bladder Small Cell Neuroendocrine Carcinoma URN001
Urinary Bladder Villous Adenoma URN005
Urinary Bladder, Atony of URN021
Urinary Schistosomiasis URN003
Urinary System Disease URN009
Urinary Tract Infections, Recurrent URN022
Urinary Tract Non-Invasive Transitional Cell Neoplasm URN002
Urinary Tract Obstruction URN010
Urinary Tract Papillary Transitional Cell Benign Neoplasm URN011
Urocanase Deficiency URC006 UROCD
Urofacial Syndrome 1 URF003 UFS1
Urofacial Syndrome 2 URF002 UFS2
Urogenital Adysplasia URG002
Urogenital Tract Malformation URG006
Urogenital Tuberculosis URG001
Urolithiasis, Uric Acid, Autosomal Dominant URL004
Uropathy Distal Obstructive Polydactyly URP001
Urticaria URT039
Urticaria, Aquagenic URT052
Urticaria, Familial Localized Heat URT053
Uruguay Faciocardiomusculoskeletal Syndrome URG005 FCMSU
Usher Syndrome USH001 USH
Usher Syndrome Type 2 USH035 USH2
Usher Syndrome, Type 2b USH011
Usher Syndrome, Type I USH036 USH1
Usher Syndrome, Type Ic USH039 USH1C
Usher Syndrome, Type Id USH040 USH1D
Usher Syndrome, Type if USH041 USH1F
Usher Syndrome, Type Ig USH042 USH1G
Usher Syndrome, Type Ih USH043 USH1H
Usher Syndrome, Type Iia USH037 USH2A
Usher Syndrome, Type Iic USH020 USH2C
Usher Syndrome, Type Iid USH021 USH2D
Usher Syndrome, Type Iiia USH038 USH3A
Usher Syndrome, Type Iiib USH044 USH3B
Usher Syndrome, Type Ij USH031 USH1J
Usher Syndrome, Type Ik USH030 USH1K
Usher Syndrome, Type Iv USH045 USH4
Uterine Adnexa Cancer UTR030
Uterine Anomalies UTR058
Uterine Benign Neoplasm UTR031
Uterine Body Mixed Cancer UTR032
Uterine Carcinosarcoma UTR024
Uterine Cervical Aplasia and Agenesis UTR055
Uterine Cervix Leukoplakia UTR010
Uterine Corpus Adenocarcinofibroma UTR008
Uterine Corpus Adenofibroma UTR025
Uterine Corpus Adenomatoid Tumor UTR005
Uterine Corpus Adenosarcoma UTR028
Uterine Corpus Apoplectic Leiomyoma UTR007
Uterine Corpus Atypical Polypoid Adenomyoma UTR022
Uterine Corpus Bizarre Leiomyoma UTR018
Uterine Corpus Cancer UTR033
Uterine Corpus Cellular Leiomyoma UTR034
Uterine Corpus Choriocarcinoma UTR035
Uterine Corpus Diffuse Leiomyomatosis UTR003
Uterine Corpus Dissecting Leiomyoma UTR017
Uterine Corpus Endometrial Carcinoma UTR056
Uterine Corpus Endometrial Stromal Sarcoma UTR026
Uterine Corpus Epithelioid Leiomyoma UTR014
Uterine Corpus Epithelioid Leiomyosarcoma UTR023
Uterine Corpus Leiomyomatosis UTR036
Uterine Corpus Lipoleiomyoma UTR019
Uterine Corpus Myxoid Leiomyoma UTR015
Uterine Corpus Myxoid Leiomyosarcoma UTR021
Uterine Corpus Sarcoma UTR037
Uterine Corpus Serous Adenocarcinoma UTR011
Uterine Hypoplasia UTR054
Uterine Inflammatory Disease UTR006
Uterine Inversion UTR020
Uterine Ligament Adenocarcinoma UTR040
Uterine Ligament Cancer UTR041
Uterine Ligament Clear Cell Adenocarcinoma UTR027
Uterine Ligament Endometrioid Adenocarcinoma UTR001
Uterine Ligament Mucinous Adenocarcinoma UTR002
Uterine Ligament Papillary Cystadenoma UTR013
Uterine Ligament Serous Adenocarcinoma UTR012
Uterine Sarcoma UTR043
Uterovaginal Malformation UTR059
Uterus Bicornis Bicollis with Partial Vaginal Septum and Unilateral Hematocolpos with Ipsilateral Renal Agenesis UTR057
Uterus Carcinoma in Situ UTR009
Uterus Interstitial Leiomyoma UTR016
Uterus Intravascular Leiomyomatosis UTR004
Uterus Leiomyosarcoma UTR042
Uterus Perivascular Epithelioid Cell Tumor UTR029
Uveal Disease UVL010
Uveal Epithelioid Cell Melanoma UVL002
Uveitis UVT001
Uveoparotid Fever UVP001
Uv-Sensitive Syndrome UVS001 UVSS
Uv-Sensitive Syndrome 1 UVS005 UVSS1
Uv-Sensitive Syndrome 2 UVS004 UVSS2
Uv-Sensitive Syndrome 3 UVS003 UVSS3
Uvula Cancer UVL001
Uvula, Bifid UVL009
Uvulitis UVL006
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