Reticulum Cell Sarcoma |
|
Sarcoma, Neoplasm |
OMIM:267730 |
Immunodeficiency 24 |
|
Decreased specific pneumococcal antibody level, Defective T cell proliferation, Lymphoproliferati... |
OMIM:615897 |
Ewing Sarcoma |
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Ewing sarcoma |
OMIM:612219 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
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Short stature, Polydipsia, Megacystis, Seizure, Polyuria |
OMIM:125800 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
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Short stature, Polydipsia, Megacystis, Seizure, Polyuria |
OMIM:304800 |
Adrenomyodystrophy |
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Seizure, Megacystis, Abnormality of the urinary system, Short stature |
ORPHA:977 |
Brain-Lung-Thyroid Syndrome |
|
Hypospadias, Hypoparathyroidism, Abnormal drinking behavior, Growth delay, Short stature, Megacys... |
ORPHA:209905 |
Melanoma-Pancreatic Cancer Syndrome |
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Pancreatic squamous cell carcinoma, Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcin... |
OMIM:606719 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
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Mediastinal lymphadenopathy, Decreased CD69 upregulation upon TCR activation, Hodgkin lymphoma, L... |
OMIM:300853 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
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Megacystis, Multicystic kidney dysplasia, Neoplasm of the heart, Cryptorchidism, Hydroureter |
ORPHA:2241 |
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 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
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Hydronephrosis, Neonatal death, Fetal megacystis, Megacystis, Hydroureter |
OMIM:619362 |
Lichen Sclerosus Et Atrophicus |
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Squamous cell carcinoma, Carcinoma |
OMIM:151590 |
Atresia Of Urethra |
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Patent urachus, Hydronephrosis, Renal dysplasia, Megacystis, Bladder fistula, Recurrent urinary t... |
ORPHA:105 |
Monocyte Chemotactic Disorder |
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Cutaneous anergy |
OMIM:252250 |
Reticular Dysgenesis |
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Lack of T cell function, Leukopenia, Impaired T cell function, Congenital agranulocytosis, Hypopl... |
OMIM:267500 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
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Absence of Stensen duct, Hydronephrosis, Hypoplastic nipples, Renal agenesis, Urethral stenosis, ... |
OMIM:604292 |
Retinal Telangiectasia And Hypogammaglobulinemia |
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Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Familial Visceral Myopathy |
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Megacystis, Hydroureter, Hyperparathyroidism, Vesicoureteral reflux |
ORPHA:2604 |
Caspase 8 Deficiency |
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Short stature, Decreased circulating IgA level, Lymphadenopathy, Decreased circulating IgG level,... |
OMIM:607271 |
Griscelli Syndrome, Type 2 |
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Seizure, Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis |
OMIM:607624 |
Visceral Myopathy 1 |
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Hydronephrosis, Dysphagia, Urinary retention, Megacystis, Vesicoureteral reflux |
OMIM:155310 |
Bladder Diverticulum |
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Urethral sphincter sclerosis, Urinary hesitancy, Hematuria, Dysuria, Recurrent urinary tract infe... |
OMIM:109820 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
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Cutaneous anergy, Splenomegaly, Hypersplenism, Decreased helper T cell proportion, Pancytopenia |
OMIM:183350 |
Immunodeficiency 64 |
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Abnormal CD4:CD8 ratio, Defective T cell proliferation, Mediastinal lymphadenopathy, Increased ci... |
OMIM:618534 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
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Abnormality of T cell physiology |
OMIM:308220 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
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Hydronephrosis, Hydroureter, Megacystis |
OMIM:619431 |
Immunodeficiency, Common Variable, 2 |
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Impaired T cell function, Decreased circulating IgA level, Lymphadenopathy, Decreased circulating... |
OMIM:240500 |
Ataxia-Telangiectasia |
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Hodgkin lymphoma, Short stature, Decreased circulating IgA level, Leukemia, Defective B cell diff... |
OMIM:208900 |
Autoimmune Lymphoproliferative Syndrome |
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Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Follicular hype... |
OMIM:601859 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
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Renal cortical hyperechogenicity, Anuria, Megacystis, Fetal megacystis, Pyelonephritis |
OMIM:619351 |
Candidiasis, Familial, 1 |
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Cutaneous anergy |
OMIM:114580 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
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Short stature, Impaired T cell function, Splenomegaly, Hypogonadism, Tremor, Decreased testicular... |
OMIM:201100 |
Immunodeficiency, Common Variable, 1 |
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B lymphocytopenia, Decreased proportion of class-switched memory B cells, Neutropenia in presence... |
OMIM:607594 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
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Hypoplasia of the thymus, Reduced antigen-specific T cell proliferation, Reduced delayed hypersen... |
OMIM:617241 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
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B lymphocytopenia, Lack of T cell function, Increased circulating IgE level, Lymphopenia, T lymph... |
ORPHA:277 |
Schimke Immuno-Osseous Dysplasia |
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Decreased proportion of naive CD8 T cells, Neutropenia, Short stature, Seizure, Microscopic hemat... |
ORPHA:1830 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
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Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... |
OMIM:603909 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
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Intrauterine growth retardation, Small scrotum, Postnatal growth retardation, Multiple bladder di... |
ORPHA:2728 |
Megabladder, Congenital |
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Hyperechogenic kidneys, Multiple glomerular cysts, Fetal megacystis, Stage 5 chronic kidney disease |
OMIM:618719 |
3-Methylglutaconic Aciduria, Type V |
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Hypospadias, Intrauterine growth retardation, Glutaric aciduria, Normochromic microcytic anemia, ... |
OMIM:610198 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
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Aplasia of the uterus, Hypoparathyroidism, Hydronephrosis, Severe postnatal growth retardation, H... |
ORPHA:2237 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
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Neutropenia, Increased circulating IgA level, Lymphadenopathy, Decreased lymphocyte proliferation... |
ORPHA:169154 |
Purine Nucleoside Phosphorylase Deficiency |
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Impaired T cell function, Neutropenia in presence of anti-neutropil antibodies, Lymph node hypopl... |
OMIM:613179 |
Obesity Due To Congenital Leptin Deficiency |
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Polyphagia, Pituitary hypothyroidism, Hypoplasia of the ovary, Decreased T cell activation, Decre... |
ORPHA:66628 |
Obesity Due To Leptin Receptor Gene Deficiency |
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Polyphagia, Pituitary hypothyroidism, Hypoplasia of the ovary, Decreased T cell activation, Decre... |
ORPHA:179494 |
Pgm3-Cdg |
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Neutropenia, Short stature, Neutropenia in presence of anti-neutropil antibodies, Reduced antigen... |
ORPHA:443811 |
Posterior Urethral Valve |
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Hydronephrosis, Urinary retention, Urethral stenosis, Congenital posterior urethral valve, Unilat... |
ORPHA:93110 |
Congenital Disorder Of Glycosylation, Type Iil |
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Intrauterine growth retardation, Pancytopenia, Growth delay, Impaired T cell function, Proximal t... |
OMIM:614576 |
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
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Multicystic kidney dysplasia, Cryptorchidism, Fetal megacystis, Intrauterine growth retardation |
ORPHA:73246 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
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Abnormal CD4:CD8 ratio, Neutropenia, Lack of T cell function, Neutropenia in presence of anti-neu... |
ORPHA:572 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
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B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Lack of T cell fun... |
ORPHA:35078 |
Immunodeficiency With Hyper-Igm, Type 1 |
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Neutropenia, Decreased circulating IgA level, Impaired memory B cell generation, Decreased circul... |
OMIM:308230 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
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Impaired lymphocyte transformation with phytohemagglutinin, Cutaneous anergy, Decreased lymphocyt... |
OMIM:600802 |
X-Linked Lymphoproliferative Disease |
|
Lymphadenopathy, Decreased circulating antibody level, Splenomegaly, Absent natural killer cells,... |
ORPHA:2442 |
Vici Syndrome |
|
Growth delay, Cutaneous anergy, Decreased circulating IgG level, Seizure, Decreased T cell activa... |
OMIM:242840 |
Pseudoleprechaunism Syndrome, Patterson Type |
|
Bladder diverticulum, Atonic seizure, Bilateral tonic-clonic seizure |
ORPHA:2976 |
Immunodeficiency 58 |
|
Dysphagia, Decreased specific antibody response to vaccination, Short stature, Recurrent cutaneou... |
OMIM:618131 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1 |
|
Hydroureter, Fetal megacystis |
OMIM:249210 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Absence of Stensen duct, Hydronephrosis, Hypoplastic nipples, Renal agenesis, Rectovaginal fistul... |
OMIM:129900 |
Acro-Renal-Ocular Syndrome |
|
Horseshoe kidney, Renal malrotation, Renal hypoplasia/aplasia, Crossed fused renal ectopia, Postn... |
ORPHA:959 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Absent microvilli on the surface of peripheral blood lymphocytes, Increased circulating IgA level... |
OMIM:600903 |
Diverticulosis Of Bowel, Hernia, And Retinal Detachment |
|
Bladder diverticulum |
OMIM:223330 |
Wiskott-Aldrich Syndrome |
|
Absent microvilli on the surface of peripheral blood lymphocytes, Impaired lymphocyte transformat... |
OMIM:301000 |
Hereditary Orotic Aciduria |
|
Abnormality of the ureter, Oroticaciduria, Impaired T cell function, Anemia, Orotic acid crystall... |
ORPHA:30 |
Progeroid Short Stature With Pigmented Nevi |
|
Hypospadias, Short stature, Impaired T cell function, Chordee, Premature ovarian insufficiency, N... |
OMIM:176690 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Abnormal T cell morphology, Aplasia of the thymus, Reduced delayed hypersensitivity, Hepatospleno... |
OMIM:242700 |
Orotic Aciduria |
|
Hypochromia, Oroticaciduria, Impaired T cell function, Hematuria, Orotic acid crystalluria, Aniso... |
OMIM:258900 |
Menkes Disease |
|
Seizure, Intrauterine growth retardation, Bladder diverticulum, Exostoses |
ORPHA:565 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Leukocytosis, Thrombocytosis, Defective T cell proliferation, Myoclonic seizure, Focal impaired a... |
OMIM:618213 |
Bare Lymphocyte Syndrome, Type Ii |
|
Agammaglobulinemia, Neutropenia, Cutaneous anergy, Recurrent urinary tract infections, Panhypogam... |
OMIM:209920 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Hydronephrosis, Growth delay, Bladder diverticulum |
OMIM:613177 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Bladder diverticulum |
OMIM:617821 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Intrauterine growth retardation, Pyelonephritis, Urethral diverticulum, Recurrent urinary tract i... |
ORPHA:90349 |
Thymic Aplasia |
|
Decreased proportion of naive T cells, Lymphadenopathy, Coombs-positive hemolytic anemia, Decreas... |
ORPHA:83471 |
Occipital Horn Syndrome |
|
Ureteral obstruction, Hydronephrosis, Bladder carcinoma, Pelvic bone exostoses, Bladder diverticulum |
OMIM:304150 |
Cutis Laxa, Autosomal Recessive, Type Ia |
|
Bladder diverticulum |
OMIM:219100 |
Williams Syndrome |
|
Short stature, Hypercalciuria, Abnormality of the bladder, Renovascular hypertension, Nephrocalci... |
ORPHA:904 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Bladder diverticulum |
OMIM:614557 |
Occipital Horn Syndrome |
|
Recurrent urinary tract infections, Dysphagia, Bladder diverticulum, Exostoses |
ORPHA:198 |
Autosomal Dominant Cutis Laxa |
|
Intrauterine growth retardation, Pyelonephritis, Postnatal growth retardation, Unilateral renal a... |
ORPHA:90348 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Short stature, Bladder diverticulum |
ORPHA:536545 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Decreased urinary lysyl-pyridinoline-hydroxylysyl-pyridinoline ratio, Bladder diverticulum |
OMIM:225400 |
Williams-Beuren Syndrome |
|
Renal hypoplasia, Intrauterine growth retardation, Urethral stenosis, Nephrocalcinosis, Short sta... |
OMIM:194050 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Hypospadias, Hydronephrosis, Asplenia, Annular pancreas, Neonatal death, Bicornuate uterus, Dilat... |
OMIM:265380 |
22Q11.2 Deletion Syndrome |
|
Hypospadias, Renal hypoplasia, Hypoparathyroidism, Intrauterine growth retardation, Short stature... |
ORPHA:567 |
Velocardiofacial Syndrome |
|
Cryptorchidism, Hypoparathyroidism, Short stature, Impaired T cell function |
OMIM:192430 |
Cardiac-Urogenital Syndrome |
|
Patent urachus, Aplasia of the uterus, Bifid scrotum, Accessory spleen, Micropenis, Ambiguous gen... |
OMIM:618280 |
Sarcoidosis, Susceptibility To, 1 |
|
Abnormal salivary gland morphology, Mediastinal lymphadenopathy, Splenomegaly, Increased circulat... |
OMIM:181000 |
Digeorge Syndrome |
|
Hydronephrosis, Short stature, Impaired T cell function, Renal dysplasia, Parathyroid agenesis, C... |
OMIM:188400 |
Classical Ehlers-Danlos Syndrome |
|
Cervical insufficiency, Uterine prolapse, Bladder diverticulum |
ORPHA:287 |
Vascular Ehlers-Danlos Syndrome |
|
Hypospadias, Uterine rupture, Short stature, Renovascular hypertension, Uterine prolapse, Cystoce... |
ORPHA:286 |
Vater/Vacterl Association |
|
Hypospadias, Patent urachus, Hydronephrosis, Renal agenesis, Intrauterine growth retardation, Ren... |
OMIM:192350 |