| 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 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 |
|
| 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 1m |
USH046 |
USH1M |
| 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 |
|
