Granulomas, Congenital Cerebral |
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Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
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Neonatal death |
OMIM:305690 |
Pyknoachondrogenesis |
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Stillbirth |
OMIM:265880 |
Pulmonary Hypoplasia, Primary |
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Neonatal death |
OMIM:265430 |
Hernia, Anterior Diaphragmatic |
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Neonatal death |
OMIM:306950 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
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Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Proteinuria,... |
OMIM:617006 |
Nephrotic Syndrome, Type 17 |
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Proteinuria, Short stature, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, M... |
OMIM:618176 |
Nail-Patella-Like Renal Disease |
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Glomerulopathy, Renal insufficiency, Proteinuria, Short stature, Microscopic hematuria |
ORPHA:2613 |
Preeclampsia |
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Increased body mass index, Proteinuria, Abnormality of the kidney, Small for gestational age, Chr... |
ORPHA:275555 |
Immunodeficiency 105 |
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Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Absence of... |
OMIM:619924 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
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Decreased serum insulin-like growth factor 1, Short stature, Postnatal growth retardation, Increa... |
OMIM:618985 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
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Proteinuria, Short stature, Small for gestational age, Abnormal T cell morphology, Nephrotic synd... |
OMIM:215250 |
Severe Combined Immunodeficiency, X-Linked |
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Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Reduced natural ki... |
OMIM:300400 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
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Renal insufficiency, Short stature, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosc... |
OMIM:308990 |
Immunodeficiency 54 |
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Short stature, Postnatal growth retardation, Splenomegaly, Adrenocorticotropic hormone excess, Ly... |
OMIM:609981 |
Insulin-Like Growth Factor I Deficiency |
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Decreased serum insulin-like growth factor 1, Short stature, Elevated circulating growth hormone ... |
OMIM:608747 |
Nephrotic Syndrome, Type 7 |
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Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom... |
OMIM:615008 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
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Postnatal growth retardation, Intrauterine growth retardation, Pancytopenia |
OMIM:600546 |
Immunodeficiency 85 And Autoimmunity |
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Lymphopenia, Failure to thrive in infancy, Growth delay, Decreased circulating total IgM, T lymph... |
OMIM:619510 |
Growth Hormone Deficiency, Isolated Partial |
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Postnatal growth retardation, Small pituitary gland, Short stature, Decreased response to growth ... |
OMIM:615925 |
Late-Onset Familial Hypoaldosteronism |
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Postnatal growth retardation, Abnormal circulating corticosterone level, Elevated serum 11-deoxyc... |
ORPHA:556037 |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
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Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
OMIM:618160 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
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Lymphopenia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia, Decrease... |
ORPHA:169154 |
Early-Onset Familial Hypoaldosteronism |
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Postnatal growth retardation, Abnormal circulating corticosterone level, Elevated serum 11-deoxyc... |
ORPHA:556030 |
Fanconi Renotubular Syndrome 2 |
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Renal insufficiency, Proteinuria, Short stature, Generalized aminoaciduria, Hypercalciuria, Renal... |
OMIM:613388 |
Polyendocrine-Polyneuropathy Syndrome |
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Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Postnata... |
ORPHA:453533 |
Adrenocortical Carcinoma |
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Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
Immunodeficiency 57 With Autoinflammation |
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Perianal abscess, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Par... |
OMIM:618108 |
Nephronophthisis 13 |
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Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Pancrea... |
OMIM:614377 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
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Postnatal growth retardation, Decreased circulating antibody level, Leukopenia, Bone marrow hypoc... |
OMIM:615190 |
Renal Hypoplasia, Bilateral |
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Failure to thrive, Proteinuria, Short stature, Small for gestational age, Cryptorchidism, Chronic... |
ORPHA:97362 |
Polyendocrine-Polyneuropathy Syndrome |
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Short stature, Anterior pituitary hypoplasia, Hypogonadotropic hypogonadism, Elevated hemoglobin ... |
OMIM:616113 |
Frasier Syndrome |
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Glomerulopathy, Renal insufficiency, Streak ovary, Proteinuria, Hypergonadotropic hypogonadism, I... |
ORPHA:347 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
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Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... |
OMIM:600802 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Lymphopenia, Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell ... |
OMIM:242700 |
Renal Hypoplasia |
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Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... |
ORPHA:93101 |
Adenine Phosphoribosyltransferase Deficiency |
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Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis... |
ORPHA:976 |
Insulin-Resistance Syndrome Type B |
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Fasting hyperinsulinemia, Increased body weight, Increased circulating IgG level, Leukopenia, Abn... |
ORPHA:2298 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
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Hyperphosphaturia, Diabetes mellitus, Proteinuria, Short stature, Large for gestational age, Neph... |
OMIM:616026 |
Posterior Urethral Valve |
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Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Postnatal... |
ORPHA:93110 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
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Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... |
ORPHA:35078 |
Immunodeficiency 55 |
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Absent natural killer cells, Short stature, Postnatal growth retardation, Lymphadenopathy, Neutro... |
OMIM:617827 |
Isolated Permanent Neonatal Diabetes Mellitus |
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Failure to thrive, Ketonuria, Neonatal insulin-dependent diabetes mellitus, Abnormality of the up... |
ORPHA:99885 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
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Autoimmune hemolytic anemia, Short stature, Autoimmune thrombocytopenia, Neutropenia in presence ... |
OMIM:615952 |
Acute Promyelocytic Leukemia |
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Pancytopenia, Thrombocytopenia, Leukocytosis, Weight loss, Hematuria, Leukopenia, Lymphadenopathy... |
ORPHA:520 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
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Increased circulating IgE level, Eosinophilia, Cutaneous abscess |
OMIM:147060 |
Autosomal Dominant Hyper-Ige Syndrome |
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Increased circulating IgE level, Eosinophilia |
ORPHA:2314 |