Currently Covered Diseases
1
10q22.3q23 microdeletion syndromeLast updated:
Chromosomal disorder; partial autosomal monosomy with skeletal and developmental involvement. Click to view overview, Dx, Tx, and referrals.
Overview: Chromosomal disorder; partial autosomal monosomy.
Key S/Sx: Facial dysmorphism, macrocephaly, ocular features; neuro/cardiac malformations; ADHD/autism.
Dx: Genetic testing (FISH/CMA/NGS as indicated).
Tx: Supportive organ-directed care.
Referral: Medical Genetics; consider NORD/Cleveland Clinic rare disease resources.
11-beta-hydroxylase deficiency
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12q14 microdeletion syndrome
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15q11.2 microdeletion
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15q13.3 microdeletion syndrome
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15q13.3 microduplication syndrome
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15q24 microdeletion syndrome
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16p11.2 deletion syndrome
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16p11.2 duplication
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16q24.3 microdeletion syndrome
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17-alpha-hydroxylase deficiency
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17q12 deletion syndrome
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17q12 duplication
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17q23.1q23.2 microdeletion syndrome
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18 Hydroxylase deficiency
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19p13.12 microdeletion syndrome
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1q duplications
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1q21.1 microdeletion syndrome
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1q44 microdeletion syndrome
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2
2-Hydroxyglutaric aciduria
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2-methylbutyryl-CoA dehydrogenase deficiency
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2,4-Dienoyl-CoA reductase deficiency
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20p12.3 microdeletion syndrome
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21-hydroxylase deficiency
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22q11.2 deletion syndrome
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22q11.2 duplication syndrome
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22q13.3 deletion syndrome
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2p15p16.1 microdeletion syndrome
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2q23.1 microdeletion syndrome
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2q37 deletion syndrome
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3
3 methylglutaconic aciduria type 1
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3-alpha hydroxyacyl-CoA dehydrogenase deficiency
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3-beta-hydroxysteroid dehydrogenase deficiency
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3-Hydroxyisobutyric aciduria
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3-methylcrotonyl-CoA carboxylase deficiency
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3M syndrome
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3MC syndrome
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3q29 microdeletion syndrome
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4
46 XX testicular disorder of sex development
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46 XY disorder of sex development
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47 XXX syndrome
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47 XYY syndrome
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48 XXXY syndrome
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48 XXYY syndrome
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49 XXXXY syndrome
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49 XXXYY syndrome
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5
6
6-pyruvoyl-tetrahydropterin synthase deficiency
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7
8
A
Aagenaes syndrome
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Aarskog syndrome
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Abdominal cystic lymphangioma
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Aberrant subclavian artery
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Abetalipoproteinemia
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Ablepharon macrostomia syndrome
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Abruzzo-Erickson syndrome
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Acalvaria
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Acanthocheilonemiasis
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Acanthoma
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Acatalasemia
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ACDC
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Aceruloplasminemia
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Acetyl CoA acetyltransferase 2 deficiency
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Achalasia-microcephaly syndrome
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Achard syndrome
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Achondrogenesis
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Achondroplasia
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Acid Sphingomyelinase Deficiency
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Acidemia (Methylmalonic)
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Acoustic Neuroma
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Acquired Aplastic Anemia
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Acquired Hemophilia
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Acquired Lipodystrophy
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Acquired Neuromyotonia
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Acrocallosal syndrome (Schinzel type)
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Acrodermatitis Enteropathica
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Acrodysostosis
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Acromegaly
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Acromesomelic Dysplasia
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Acromicric Dysplasia
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ACTH Deficiency
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Activated Phosphoinositide 3-Kinase Delta Syndrome (APDS)
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Acute Disseminated Encephalomyelitis
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Acute Eosinophilic Pneumonia
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Acute Hepatic Porphyria
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Acute Myeloid Leukemia
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Acute Promyelocytic Leukemia
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Acute Respiratory Distress Syndrome
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Adams-Oliver Syndrome
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ADCY5-Related Dyskinesia
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Addison’s Disease
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Adenoid Cystic Carcinoma
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Adenylosuccinate Lyase Deficiency
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Adie Syndrome
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ADNP Syndrome
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Adult Neuronal Ceroid Lipofuscinosis
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Adult Polyglucosan Body Disease
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Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia
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Adult-Onset Still’s Disease
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AEC Syndrome
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African Iron Overload
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Agammaglobulinemia
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Agenesis of Corpus Callosum
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Agranulocytosis (Acquired)
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Ahumada-Del Castillo Syndrome
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Aicardi Syndrome
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Aicardi-Goutières Syndrome
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AIDS Dysmorphic Syndrome
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ALAD Porphyria
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Alagille Syndrome
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Alexander Disease
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Asherman Syndrome
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B
Baird syndrome - Absence of Fingerprints
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Behcet's Syndrome
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Bernard-Soulier Syndrome
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Buerger's Disease
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C
D
Dandy-Walker Malformation
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Danon Disease
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De Barsy syndrome
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Degos Disease
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Dejerine-Sottas Syndrome
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Dent Disease
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Denys-Drash Syndrome
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Deoxyhypusine synthase disorder
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Dercum's disease
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Dermatomyositis
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Diamond-Blackfan Anemia
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Diffuse Pulmonary Lymphangiomatosis
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DOORS Syndrome
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Dravet Syndrome
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DReSS Syndrome
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Duane Syndrome
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Dubin Johnson Syndrome
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Dubowitz Syndrome
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Duchenne Muscular Dystrophy
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Dup15q Syndrome
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Dyggve Melchior Clausen syndrome
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Dysautonomia (Familial)
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Dyskeratosis Congenita
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Dysplasia Epiphysealis Hemimelica
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E
Eales Disease
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Ellis-Van Creveld syndrome
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Emery Dreifuss Muscular Atrophy
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Empty sella syndrome
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Endocardial fibroelastosis
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Epidermolytic Ichthyosis
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Essential iris atrophy
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Essential Thrombocythemia
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Evans Syndrome
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Ewing Sarcoma
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F
Fabry Disease
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Factor XI deficiency
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Familial Adenomatous Polyposis
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Familial Calcium Pyrophosphate Deposition Disease
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Familial Cold Autoinflammatory Syndrome
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Familial Eosinophilic Cellulitis
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Familial Hypercholesterolemia
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Familial Hypophosphatemia
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Familial Partial Lipodystrophy
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Fetal Alloimmune Thrombocytopenia
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Fragile X Syndrome
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G
Giant Cell Arteritis
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H
J
Juvenile Polyposis Syndrome
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K
L
M
Maple Syrup Urine Disease
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McArdle Disease
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McCune-Albright Syndrome
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Mucolipidosis Type III or Pseudo Hurler Polydystrophy
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Mucopolysaccharidosis Type I
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Mucopolysaccharidosis Type II
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N
P
Pentasomy X
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Pompe Disease
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Porphyria Cutenea Tarda
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Primary Ciliary Dyskinesia
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Primary Hyperoxaluria Type 1
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Primary Sclerosing Cholangitis
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Primary Sjogren Syndrome
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Pyruvate carboxylase deficiency
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Pyruvate dehydrogenase complex deficiency (PDCD)
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Pyruvate Kinase Deficiency
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Q
Q Fever
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R
Rasmussen encephalitis
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S
Sheehan Syndrome
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T
Tangier Disease
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Tethered cord syndrome
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Tetralogy Of Fallot
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Trisomy X
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U
UGDH Related Disorder
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Ulcerative colitis
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Urachal Caner
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Urofacial syndrome
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Urothelial Carcinoma of the Renal Pelvis and Ureter
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Urticaria (Cold)
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Urticaria (Papular)
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Urticaria (Physical)
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Usher Syndrome
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USP7-Related Diseases
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V
Von Gierke Disease
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W
Wilson Disease
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Z
ZC4H2-Associated Rare Disorders (ZARD)
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Zellweger Spectrum Disorders
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Zollinger-Ellison Syndrome (ZES)
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