Reticulum Cell Sarcoma |
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Neoplasm, Sarcoma |
OMIM:267730 |
Immunodeficiency 24 |
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Decreased circulating IgG level, Lymphoproliferative disorder, Decreased CD4:CD8 ratio, Decreased... |
OMIM:615897 |
Urofacial Syndrome 2 |
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Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... |
OMIM:615112 |
Ewing Sarcoma |
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Ewing sarcoma |
OMIM:612219 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
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Short stature, Polyuria, Megacystis, Seizure, Polydipsia |
OMIM:125800 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
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Short stature, Polyuria, Megacystis, Seizure, Polydipsia |
OMIM:304800 |
Adrenomyodystrophy |
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Seizure, Abnormality of the urinary system, Short stature, Megacystis |
ORPHA:977 |
Brain-Lung-Thyroid Syndrome |
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Thyroid dysgenesis, Hypoparathyroidism, Hyperactivity, Short stature, Hypospadias, Abnormal eatin... |
ORPHA:209905 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
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Decreased proportion of CD4-positive T cells, Lymphoproliferative disorder, B-cell lymphoma, Auto... |
OMIM:300853 |
Melanoma-Pancreatic Cancer Syndrome |
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Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... |
OMIM:606719 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
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Recurrent urinary tract infections, Fetal pyelectasis, Megacystis, Nephrolithiasis |
OMIM:619365 |
Visceral Myopathy 2 |
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Barrett esophagus, Megacystis, Dysphagia |
OMIM:619350 |
Atresia Of Urethra |
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Renal dysplasia, Renal insufficiency, Hydroureter, Recurrent urinary tract infections, Bladder fi... |
ORPHA:105 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
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Hydroureter, Megacystis, Fetal megacystis, Neonatal death, Hydronephrosis |
OMIM:619362 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
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Multicystic kidney dysplasia, Hydroureter, Neoplasm of the heart, Cryptorchidism, Megacystis |
ORPHA:2241 |
Monocyte Chemotactic Disorder |
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Cutaneous anergy |
OMIM:252250 |
Reticular Dysgenesis |
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Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... |
OMIM:267500 |
Caspase 8 Deficiency |
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Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:607271 |
Immunodeficiency 105 |
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Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... |
OMIM:619924 |
Retinal Telangiectasia And Hypogammaglobulinemia |
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Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Familial Visceral Myopathy |
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Vesicoureteral reflux, Hyperparathyroidism, Hydroureter, Megacystis |
ORPHA:2604 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
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Renal dysplasia, Duplicated collecting system, Hydroureter, Absence of Stensen duct, Decreased re... |
OMIM:604292 |
Griscelli Syndrome, Type 2 |
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Seizure, Hemophagocytosis, Reduced delayed hypersensitivity, Hepatosplenomegaly |
OMIM:607624 |
Visceral Myopathy 1 |
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Megacystis, Urinary retention, Dysphagia, Vesicoureteral reflux, Hydronephrosis |
OMIM:155310 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
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Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy |
OMIM:183350 |
Immunodeficiency 64 With Lymphoproliferation |
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Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
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Abnormality of T cell physiology |
OMIM:308220 |
Immunodeficiency, Common Variable, 2 |
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Impaired T cell function, Follicular hyperplasia, Splenomegaly, Lymphoma, Lymphadenopathy, Neopla... |
OMIM:240500 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
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Hydroureter, Megacystis, Hydronephrosis |
OMIM:619431 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
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Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased circulat... |
OMIM:617241 |
Autoimmune Lymphoproliferative Syndrome |
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Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, Autoimmune thro... |
OMIM:601859 |
Candidiasis, Familial, 1 |
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Cutaneous anergy |
OMIM:114580 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
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Anuria, Megacystis, Pyelonephritis, Fetal megacystis, Renal cortical hyperechogenicity |
OMIM:619351 |
Schimke Immuno-Osseous Dysplasia |
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Impaired T cell function, Neutropenia, Nephropathy, Nephrotic range proteinuria, Short stature, M... |
ORPHA:1830 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
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Iron deficiency anemia, Increased circulating IgG level, Increased B cell count, Decreased lympho... |
OMIM:603909 |
Ataxia-Telangiectasia |
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Non-Hodgkin lymphoma, Tremor, Choreoathetosis, T lymphocytopenia, Hypoplasia of the thymus, Decre... |
OMIM:208900 |
Immunodeficiency, Common Variable, 1 |
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Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Dec... |
OMIM:607594 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
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Absence of lymph node germinal center, Increased circulating IgE level, Lack of T cell function, ... |
ORPHA:277 |
Megabladder, Congenital |
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Hyperechogenic kidneys, Multiple glomerular cysts, Fetal megacystis, Stage 5 chronic kidney disease |
OMIM:618719 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
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Small scrotum, Proteinuria, Postnatal growth retardation, Cryptorchidism, Multiple bladder divert... |
ORPHA:2728 |
Roifman Syndrome |
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Short stature, Hypogonadotropic hypogonadism, Eosinophilia, Postnatal growth retardation, Hepatos... |
ORPHA:353298 |
Purine Nucleoside Phosphorylase Deficiency |
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Autoimmune hemolytic anemia, Recurrent urinary tract infections, Impaired T cell function, Pure r... |
OMIM:613179 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
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Hypoparathyroidism, Renal dysplasia, Renal insufficiency, Abnormality of T cell physiology, Unila... |
ORPHA:2237 |
Obesity Due To Congenital Leptin Deficiency |
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Hypergonadotropic hypogonadism, Pituitary hypothyroidism, Hypoplasia of the ovary, Decreased prop... |
ORPHA:66628 |
Obesity Due To Leptin Receptor Gene Deficiency |
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Hypergonadotropic hypogonadism, Pituitary hypothyroidism, Hypoplasia of the ovary, Decreased prop... |
ORPHA:179494 |
Congenital Disorder Of Glycosylation, Type Iil |
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Pancytopenia, Impaired T cell function, Unilateral renal agenesis, Splenomegaly, Decreased specif... |
OMIM:614576 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
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Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal CD4:CD8 ratio, N... |
ORPHA:572 |
Immunodeficiency With Hyper-Igm, Type 1 |
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Hemolytic anemia, Dysgammaglobulinemia, Impaired Ig class switch recombination, Absence of lymph ... |
OMIM:308230 |
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
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Intrauterine growth retardation, Multicystic kidney dysplasia, Fetal megacystis, Cryptorchidism |
ORPHA:73246 |
Immunodeficiency 96 |
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Multicystic kidney dysplasia, Increased proportion of gamma-delta T cells, Growth delay, Decrease... |
OMIM:619774 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
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Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse... |
ORPHA:35078 |
Posterior Urethral Valve |
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Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Postnatal... |
ORPHA:93110 |
Vici Syndrome |
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Decreased circulating IgG level, Lymphopenia, Postnatal growth retardation, Decreased circulating... |
OMIM:242840 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
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Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease... |
OMIM:600802 |
Pseudoleprechaunism Syndrome, Patterson Type |
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Intrauterine growth retardation, Bladder diverticulum, Atonic seizure, Bilateral tonic-clonic sei... |
ORPHA:2976 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
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Short stature, Impaired T cell function, Tremor, Splenomegaly, Hypogonadism, Decreased testicular... |
OMIM:201100 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... |
OMIM:242700 |
Wiskott-Aldrich Syndrome |
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Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
Immunodeficiency 58 |
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Recurrent cutaneous abscess formation, Short stature, Dysuria, Decreased circulating antibody lev... |
OMIM:618131 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1 |
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Hydroureter, Fetal megacystis |
OMIM:249210 |
Occipital Horn Syndrome |
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Pelvic bone exostoses, Bladder carcinoma, Growth delay, Seizure, Hydronephrosis, Bladder divertic... |
OMIM:304150 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
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Perianal abscess, Leukocytosis, Increased circulating IgE level, Myoclonic seizure, Increased cir... |
OMIM:618213 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
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Renal dysplasia, Duplicated collecting system, Hydroureter, Absence of Stensen duct, Decreased re... |
OMIM:129900 |
Hereditary Orotic Aciduria |
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Orotic acid crystalluria, Impaired T cell function, Splenomegaly, Abnormality of the ureter, Amin... |
ORPHA:30 |
Acro-Renal-Ocular Syndrome |
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Renal malrotation, Renal hypoplasia/aplasia, Postnatal growth retardation, Horseshoe kidney, Blad... |
ORPHA:959 |
Orotic Aciduria |
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Orotic acid crystalluria, Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblast... |
OMIM:258900 |
Menkes Disease |
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Intrauterine growth retardation, Bladder diverticulum, Seizure, Exostoses |
ORPHA:565 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Recurrent urinary tract infections, Decreased proportion of naive T cells, Aplasia of the thymus,... |
ORPHA:83471 |
Bare Lymphocyte Syndrome, Type Ii |
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Recurrent urinary tract infections, Agammaglobulinemia, Neutropenia, Cutaneous anergy, Panhypogam... |
OMIM:209920 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
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Bladder diverticulum |
OMIM:617821 |
Williams Syndrome |
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Hypoplasia of penis, Tremor, Abnormal tubulointerstitial morphology, Nephrocalcinosis, Compulsive... |
ORPHA:904 |
Autosomal Recessive Cutis Laxa Type 1 |
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Recurrent urinary tract infections, Severe short stature, Pyelonephritis, Urethral diverticulum, ... |
ORPHA:90349 |
Cutis Laxa, Autosomal Recessive, Type Ia |
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Bladder diverticulum |
OMIM:219100 |
Cutis Laxa, Autosomal Recessive, Type Ic |
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Accessory spleen, Growth delay, Hypoplasia of the thymus, Multiple bladder diverticula, Hydroneph... |
OMIM:613177 |
Williams-Beuren Syndrome |
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Renal insufficiency, Recurrent urinary tract infections, Short stature, Urethral stenosis, Abnorm... |
OMIM:194050 |
Velocardiofacial Syndrome |
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Hypoparathyroidism, Short stature, Impaired T cell function, Aggressive behavior, Cryptorchidism |
OMIM:192430 |
Occipital Horn Syndrome |
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Bladder diverticulum, Recurrent urinary tract infections, Dysphagia, Exostoses |
ORPHA:198 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
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Hydroureter, Hypospadias, Asplenia, Dilatation of the renal pelvis, Dilatation of the bladder, Bi... |
OMIM:265380 |
Autosomal Dominant Cutis Laxa |
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Unilateral renal agenesis, Postnatal growth retardation, Pyelonephritis, Bladder diverticulum, In... |
ORPHA:90348 |
22Q11.2 Deletion Syndrome |
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Hypoparathyroidism, Short stature, Hypospadias, Impaired T cell function, Cryptorchidism, Splenom... |
ORPHA:567 |
Sarcoidosis, Susceptibility To, 1 |
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Pancytopenia, Generalized lymphadenopathy, Abnormality of T cell physiology, Anorexia, Mediastina... |
OMIM:181000 |
Progeroid Short Stature With Pigmented Nevi |
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Short stature, Impaired T cell function, Hypospadias, Chordee, Delayed puberty |
OMIM:176690 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
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Bladder diverticulum, Short stature |
ORPHA:536545 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
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Bladder diverticulum, Decreased urinary lysyl-pyridinoline-hydroxylysyl-pyridinoline ratio |
OMIM:225400 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
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Bladder diverticulum |
OMIM:614557 |
Digeorge Syndrome |
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Renal dysplasia, Renal insufficiency, Short stature, Parathyroid agenesis, Unilateral renal agene... |
OMIM:188400 |
Classical Ehlers-Danlos Syndrome |
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Uterine prolapse, Bladder diverticulum, Cervical insufficiency |
ORPHA:287 |
Vascular Ehlers-Danlos Syndrome |
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Hypospadias, Short stature, Cryptorchidism, Cystocele, Renovascular hypertension, Bladder diverti... |
ORPHA:286 |
Cardiac-Urogenital Syndrome |
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Bifid scrotum, Accessory spleen, Penoscrotal hypospadias, Unilateral cryptorchidism, Cryptorchidi... |
OMIM:618280 |