| 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
|
|
