Polycystic Kidney Disease 5 |
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Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly,... |
OMIM:617610 |
Schizencephaly |
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Schizencephaly, Cerebral cortical atrophy, Agenesis of corpus callosum |
OMIM:269160 |
Chudley-Mccullough Syndrome |
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Gray matter heterotopia, Hydrocephalus, Partial agenesis of the corpus callosum, Hypoplasia of th... |
OMIM:604213 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
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Leukopenia, Anemia, Enlarged kidney, Hepatomegaly, Extramedullary hematopoiesis, Thrombocytopenia... |
OMIM:615285 |
Hepatorenocardiac Degenerative Fibrosis |
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Cirrhosis, Renal interstitial fibrosis, Enlarged kidney, Hypersplenism, Jaundice, Hepatocellular ... |
OMIM:619902 |
Immunodeficiency, Common Variable, 6 |
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Nephrotic range proteinuria, Stage 5 chronic kidney disease, Enlarged kidney, Mesangial Immune co... |
OMIM:613496 |
Sub-Cortical Nodular Heterotopia |
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Subcortical heterotopia, Abnormality of neuronal migration, Abnormal cerebral cortex morphology, ... |
ORPHA:101029 |
Mirage Syndrome |
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Leukopenia, Anemia, Aspiration pneumonia, Shawl scrotum, Microphallus, Decreased testicular size,... |
OMIM:617053 |
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
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Abnormal salivary gland morphology, Hyponatremia |
ORPHA:3225 |
Nephronophthisis 2 |
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Stage 5 chronic kidney disease, Enlarged kidney, Hyperkalemia, Pulmonary hypoplasia, Absence of r... |
OMIM:602088 |
Renal Hypoplasia, Bilateral |
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Vesicoureteral reflux, Anemia, Hyponatremia, Beta 2-microglobulinuria, Microscopic hematuria, Gly... |
ORPHA:97362 |
Mirror Movements 1 |
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Agenesis of corpus callosum |
OMIM:157600 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
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Leukopenia, Anemia, Hyperuricemia, Renal salt wasting, Pancytopenia, Increased blood urea nitroge... |
OMIM:613845 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
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Neutropenia, Hyponatremia |
OMIM:616949 |
Hereditary Coproporphyria |
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Abnormal circulating porphyrin concentration, Back pain, Porphyrinuria, Anemia, Hepatocellular ca... |
ORPHA:79273 |
Nephronophthisis 16 |
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Periportal fibrosis, Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia... |
OMIM:615382 |
Legionnaires Disease |
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Abnormal pleura morphology, Hepatitis, Jaundice, Pancreatitis, Hematuria, Recurrent pharyngitis, ... |
ORPHA:549 |
Congenital Megacalycosis |
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Tubulointerstitial nephritis, Dilatation of renal calices, Recurrent urinary tract infections, En... |
ORPHA:93109 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
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Precocious puberty, Hyperkalemia, Renal salt wasting, Cryptorchidism, Hyponatremia |
OMIM:614736 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
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Sacral dimple, Nephroblastoma, Kyphosis, Enlarged kidney, Pulmonary cyst |
OMIM:618272 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
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Pancreatic cysts, Hepatic fibrosis, Multiple small medullary renal cysts, Hepatic cysts, Periport... |
OMIM:263200 |
Kaposiform Lymphangiomatosis |
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Pancreatic cysts, Splenomegaly, Anemia, Abnormality of the cervical spine, Enlarged kidney, Abnor... |
ORPHA:464329 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
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Scrotal hypospadias, Ambiguous genitalia, Absent scrotum, Hyponatremia, Microphallus, Bifid scrot... |
OMIM:201810 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
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Increased total bilirubin, Leukopenia, Anemia, Increased VLDL cholesterol concentration, Jaundice... |
OMIM:267700 |
Meckel Syndrome, Type 8 |
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Ambiguous genitalia, Enlarged kidney, Polycystic kidney dysplasia, Short neck, Hyperechogenic kid... |
OMIM:613885 |
Late-Onset Familial Hypoaldosteronism |
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Renal sodium wasting, Hyperkalemia, Increased circulating renin level, Hyponatremia, Abnormal ext... |
ORPHA:556037 |
Hyperchlorhidrosis, Isolated |
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Hyperkalemia, Hyponatremia |
OMIM:143860 |
Bartter Syndrome, Type 5, Antenatal, Transient |
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Hypokalemia, Medullary nephrocalcinosis, Increased circulating renin level, Hypochloremia, Polyur... |
OMIM:300971 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
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Recurrent respiratory infections, Hyperkalemia, Renal salt wasting, Hyponatremia |
OMIM:264350 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
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Increased circulating prolactin concentration, Precocious puberty, Decreased response to growth h... |
ORPHA:91354 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
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Adrenocorticotropic hormone excess, Ambiguous genitalia, female, Decreased testicular size, Ambig... |
ORPHA:90791 |
Early-Onset Familial Hypoaldosteronism |
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Renal sodium wasting, Hyperkalemia, Increased circulating renin level, Hyponatremia, Abnormal ext... |
ORPHA:556030 |
Adrenal Hypoplasia, Congenital |
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Precocious puberty, Hyponatremia, Azoospermia, Renal salt wasting, Oligospermia, Cryptorchidism, ... |
OMIM:300200 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
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Asplenia, Biliary cirrhosis, Renal dysplasia, Pulmonary hypoplasia, Malformation of the hepatic d... |
OMIM:208540 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
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Asplenia, Hepatic fibrosis, Enlarged kidney, Cystic renal dysplasia, Abnormal lung lobation, Pulm... |
OMIM:615415 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
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Increased total bilirubin, Leukopenia, Anemia, Jaundice, Pancytopenia, Hepatosplenomegaly, Lympha... |
OMIM:603553 |
Corticosterone Methyloxidase Type Ii Deficiency |
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Increased circulating renin level, Hyperkalemia, Renal salt wasting, Hyponatremia |
OMIM:610600 |
Corticosterone Methyloxidase Type I Deficiency |
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Increased circulating renin level, Hyperkalemia, Renal salt wasting, Hyponatremia |
OMIM:203400 |
Diaphanospondylodysostosis |
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Absent in utero ossification of vertebral bodies, Unossified sacrum, Abnormal liver lobulation, D... |
OMIM:608022 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
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Reduced blood urea nitrogen, Hyposthenuria, Decreased circulating renin level, Hypernatriuria, De... |
OMIM:300539 |
Aa Amyloidosis |
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Nephrotic syndrome, Acute kidney injury, Enlarged kidney, Renal amyloidosis, Abnormality of the k... |
ORPHA:85445 |
Autosomal Recessive Polycystic Kidney Disease |
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Cholangiocarcinoma, Pulmonary hypoplasia, Hepatosplenomegaly, Hepatoblastoma, Reduced renal corti... |
ORPHA:731 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
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Abnormal cerebral white matter morphology, Dysplastic corpus callosum, Mild malformation of corti... |
ORPHA:500166 |
Diarrhea 10, Protein-Losing Enteropathy Type |
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Elevated circulating thyroid-stimulating hormone concentration, Renal dysplasia, Pleural effusion... |
OMIM:618183 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
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Sacral dimple, Urethral atresia, Enlarged kidney, Abnormal vertebral morphology, Pulmonary hypopl... |
OMIM:314390 |
Wolcott-Rallison Syndrome |
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Abnormality of the liver, Exocrine pancreatic insufficiency, Lymphocytosis, Hyperbilirubinemia, J... |
ORPHA:1667 |
Renal Dysplasia |
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Vesicovaginal fistula, Congenital posterior urethral valve, Moderate proteinuria, Abnormal renal ... |
ORPHA:93108 |
Mucopolysaccharidosis-Plus Syndrome |
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Renal tubular atrophy, Leukopenia, Anemia, Neutropenia, Recurrent respiratory infections, Nephrot... |
OMIM:617303 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
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Aminoaciduria, Calcinosis, Hypokalemia, Renal artery stenosis, Hyponatremia, Renal hypoplasia, Ne... |
OMIM:617913 |
Autosomal Dominant Polycystic Kidney Disease |
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Pancreatic cysts, Recurrent urinary tract infections, Stage 5 chronic kidney disease, Enlarged ki... |
ORPHA:730 |
Generalized Pseudohypoaldosteronism Type 1 |
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Hyperkalemia, Increased circulating renin level, Recurrent upper and lower respiratory tract infe... |
ORPHA:171876 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
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Enlarged kidney, Polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged ... |
ORPHA:90301 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
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Macroorchidism, Abnormality of female external genitalia, Jaundice, Hyperkalemia, Adrenal hyperpl... |
ORPHA:90790 |
Central Diabetes Insipidus |
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Nocturia, Hyponatremia |
ORPHA:178029 |
Denys-Drash Syndrome |
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Gonadal tissue inappropriate for external genitalia or chromosomal sex, Nephroblastoma, Ambiguous... |
OMIM:194080 |
Snakebite Envenomation |
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Acute kidney injury, Thrombocytopenia, Hypopituitarism, Hyponatremia |
ORPHA:449285 |
Porphyria Due To Ala Dehydratase Deficiency |
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Abnormal circulating porphyrin concentration, Purple urine, Abnormal erythrocyte enzyme level, In... |
ORPHA:100924 |
Polymicrogyria With Optic Nerve Hypoplasia |
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Dysplastic corpus callosum, Polymicrogyria, Agenesis of corpus callosum, Colpocephaly |
ORPHA:250972 |
Aica-Ribosuria Due To Atic Deficiency |
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Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level, Fused labia minora, Clitoral hype... |
OMIM:608688 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
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Abnormal urine potassium concentration, Adrenocorticotropic hormone excess, Hyponatremia, Abnorma... |
ORPHA:168558 |
Acrocephalopolydactylous Dysplasia |
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Hepatic fibrosis, Enlarged kidney, Polysplenia, Cystic renal dysplasia, Pulmonary hypoplasia, Sho... |
OMIM:200995 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
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Abnormal urine potassium concentration, Adrenocorticotropic hormone excess, Hyponatremia, Abnorma... |
ORPHA:289548 |
Shigellosis |
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Hemolytic-uremic syndrome, Acute kidney injury, Microangiopathic hemolytic anemia, Abscess, Perit... |
ORPHA:810 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
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Hyperkalemia, Increased circulating renin level, Hyponatremia |
OMIM:620126 |
Porphyria Variegata |
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Abnormal circulating porphyrin concentration, Back pain, Porphyrinuria, Anemia, Abnormality of th... |
ORPHA:79473 |
Familial Glucocorticoid Deficiency |
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Leydig cell neoplasia, Precocious puberty, Testicular adrenal rest tumor, Recurrent urinary tract... |
ORPHA:361 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
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Hyperkalemia, Increased circulating renin level, Hyponatremia |
OMIM:620125 |
Colchicine Poisoning |
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Hypophosphatemia, Hypokalemia, Hypocalcemia, Abnormal blood ion concentration, Oliguria, Leukocyt... |
ORPHA:31824 |
Spastic Paraplegia 45, Autosomal Recessive |
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Hypoplasia of the corpus callosum, Dysplastic corpus callosum |
OMIM:613162 |
Hypoadrenocorticism, Familial |
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Hyperkalemia, Hyponatremia |
OMIM:240200 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
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Hypokalemia, Renal salt wasting, Hypernatriuria, Hyperchloriduria, Increased urinary potassium, H... |
OMIM:613090 |
Webb-Dattani Syndrome |
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Vesicoureteral reflux, Decreased response to growth hormone stimulation test, Neurogenic bladder,... |
OMIM:615926 |
Juvenile Nephropathic Cystinosis |
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Abnormal urine potassium concentration, Aminoaciduria, Proximal tubulopathy, Renal phosphate wast... |
ORPHA:411634 |
Familial Dysautonomia |
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Glomerulopathy, Abnormal pleura morphology, Abnormality of the kidney, Abnormality of the periton... |
ORPHA:1764 |
Glycogen Storage Disease Ib |
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Hyperuricemia, Neutropenia, Enlarged kidney, Pancreatitis, Hepatocellular carcinoma, Decreased gl... |
OMIM:232220 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
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Leukocytosis, Thrombocytopenia, Goiter, Hyponatremia |
ORPHA:83601 |
Neuroleptic Malignant Syndrome |
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Urinary incontinence, Hyperphosphatemia, Hyperuricemia, Aspiration pneumonia, Acute kidney injury... |
ORPHA:94093 |
Herpes Simplex Virus Encephalitis |
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Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hyponatremia |
ORPHA:1930 |
Congenital Isolated Acth Deficiency |
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Hepatitis, Prolonged neonatal jaundice, Hyperkalemia, Hyponatremia |
ORPHA:199296 |
Lissencephaly Due To Tuba1A Mutation |
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Perisylvian polymicrogyria, Agyria, Dysgenesis of the basal ganglia, Lissencephaly, Partial agene... |
ORPHA:171680 |
H Syndrome |
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Hypertriglyceridemia, Hypogonadism, Bronchiectasis, Decreased testicular size, Enlarged kidney, A... |
ORPHA:168569 |
Cholera |
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Aspiration pneumonia, Abnormality of renal excretion, Acute kidney injury, Decreased urine output... |
ORPHA:173 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
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Impaired renal concentrating ability, Hypokalemia, Renal salt wasting, Hypernatriuria, Hyperchlor... |
OMIM:602522 |
Whipple Disease |
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Anemia, Pleuritis, Hepatomegaly, Hyponatremia, Mediastinal lymphadenopathy, Splenomegaly |
ORPHA:3452 |
Cystinosis, Nephropathic |
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Reduced blood urea nitrogen, Aminoaciduria, Hyperphosphaturia, Decreased plasma carnitine, Hypoph... |
OMIM:219800 |
Igg4-Related Kidney Disease |
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Nephrotic range proteinuria, Prostatitis, Sclerosing cholangitis, Renal interstitial immunoglobul... |
ORPHA:449395 |
Chédiak-Higashi Syndrome |
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Anemia, Hypertriglyceridemia, Neutropenia, Recurrent respiratory infections, Jaundice, Pancytopen... |
ORPHA:167 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
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Anuria, Acute kidney injury, Hemoglobinuria, Microangiopathic hemolytic anemia, Unconjugated hype... |
ORPHA:90038 |
Alg12-Cdg |
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B lymphocytopenia, Recurrent pharyngitis, Recurrent pneumonia, Hypospadias, Hypocholesterolemia, ... |
ORPHA:79324 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
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Abnormal size of pituitary gland, Decreased response to growth hormone stimulation test, Bronchie... |
ORPHA:293978 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
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Hyperkalemia, Increased circulating renin level, Hyponatremia |
OMIM:177735 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
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Increased total bilirubin, Elevated circulating creatinine concentration, Decreased plasma free c... |
OMIM:608836 |
Hyperkalemic Periodic Paralysis |
|
Hyponatremia, Hypokalemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
ORPHA:682 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
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Nephroblastoma, Enlarged kidney, Hydrocele testis, Scoliosis, Ovarian serous cystadenoma, Abnorma... |
ORPHA:276280 |
Posttransplant Acute Limbic Encephalitis |
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Hyponatremia |
ORPHA:163921 |
Infection-Related Hemolytic Uremic Syndrome |
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Nephrotic range proteinuria, Respiratory tract infection, Anuria, Brain abscess, Hemolytic anemia... |
ORPHA:544482 |
Lymphoid Interstitial Pneumonia |
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Respiratory tract infection, Subpleural interstitial thickening, Bronchiectasis, Enlarged kidney,... |
ORPHA:79128 |
Meacham Syndrome |
|
Cardiac total anomalous pulmonary venous connection, Bicornuate uterus, Enlarged kidney, Congenit... |
OMIM:608978 |
Adenohypophysitis |
|
Hyposthenuria, Abnormal size of pituitary gland, Gonadotropin deficiency, Increased circulating p... |
ORPHA:95512 |
Panhypophysitis |
|
Hyposthenuria, Increased circulating prolactin concentration, Gonadotropin deficiency, Abnormal s... |
ORPHA:95513 |
Familial Hypoaldosteronism |
|
Hyperkalemia, Increased circulating renin level, Renal salt wasting, Proximal renal tubular acido... |
ORPHA:427 |
Paternal Uniparental Disomy Of Chromosome 1 |
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Enlarged kidney, Membranoproliferative glomerulonephritis, Episodic hemolytic anemia, Increased b... |
ORPHA:251004 |
Necrotizing Enterocolitis |
|
Peritonitis, Leukocytosis, Hyponatremia, Thrombocytopenia, Neutropenia |
ORPHA:391673 |
Late-Onset Isolated Acth Deficiency |
|
Hyperuricemia, Hepatitis, Normocytic anemia, Pituitary adenoma, Hyperkalemia, Hypoparathyroidism,... |
ORPHA:199299 |
Alg8-Cdg |
|
Thrombocytopenia, Anemia, Hyponatremia |
ORPHA:79325 |
Tyrosinemia, Type I |
|
Hypermethioninemia, Anemia, Cirrhosis, Enlarged kidney, Hepatocellular carcinoma, Glomerular scle... |
OMIM:276700 |
Glucose-Galactose Malabsorption |
|
Hematuria, Hypercalcemia, Renal insufficiency, Hypernatremia, Nephrolithiasis |
ORPHA:35710 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Leukopenia, Anemia, Recurrent respiratory infections, Nephrotic syndrome, Lumbar hyperlordosis, E... |
ORPHA:505248 |
Acute Intermittent Porphyria |
|
Urinary incontinence, Back pain, Porphyrinuria, Urinary retention, Dysuria, Hepatocellular carcin... |
ORPHA:79276 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Elevated urine acetoacetic acid level, Hypoornithinemia, Hyperalaninemia, Ketonuria, Elevated uri... |
OMIM:615751 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Dysplastic corpus callosum, Primary microcephaly |
OMIM:618010 |
Oculocerebrorenal Syndrome Of Lowe |
|
Aminoaciduria, Glomerulopathy, Hyponatremia, Hypercholesterolemia, Thrombocytopenia, Nephrolithia... |
ORPHA:534 |
Pituitary Apoplexy |
|
Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t... |
ORPHA:95613 |
Lysosomal Acid Lipase Deficiency |
|
Abnormal urine potassium concentration, Hypercholesterolemia, Anemia, Hepatic fibrosis, Microvesi... |
ORPHA:275761 |
Holoprosencephaly |
|
Hyponatremia, Anterior hypopituitarism, Aplasia/Hypoplasia of the lungs, Hypoplasia of penis, Pan... |
ORPHA:2162 |
Bartter Syndrome Type 4 |
|
Impaired renal concentrating ability, Acute kidney injury, Stage 5 chronic kidney disease, Hypoka... |
ORPHA:89938 |
Acute Adrenal Insufficiency |
|
Hyperuricemia, Normocytic anemia, Hyperkalemia, Renal salt wasting, Increased circulating renin l... |
ORPHA:95409 |
Liver Disease, Severe Congenital |
|
Aminoaciduria, Portal inflammation, Elevated circulating alpha-fetoprotein concentration, Hepatic... |
OMIM:619991 |
Hepatocellular Carcinoma |
|
Hemobilia, Anemia, Abnormality of the liver, Liver abscess, Hepatic necrosis, Hypokalemia, Hyperb... |
ORPHA:88673 |
Addison Disease |
|
Thymoma, Hyperuricemia, Primary testicular failure, Normocytic anemia, Hyperkalemia, Renal salt w... |
ORPHA:85138 |
Sheehan Syndrome |
|
Hyposthenuria, Abnormal size of pituitary gland, Gonadotropin deficiency, Panhypopituitarism, Red... |
ORPHA:91355 |
Glycogen Storage Disease Ia |
|
Hyperuricemia, Enlarged kidney, Hepatocellular carcinoma, Decreased glomerular filtration rate, H... |
OMIM:232200 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Dysplastic corpus callosum, Microcephaly |
OMIM:618276 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypercholesterolemia, Chronic neutropenia, Anemia, Hyperuricemia, Stage 5 chronic kidney disease,... |
ORPHA:79259 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Urogenital sinus anomaly, Precocious puberty in females, Ambiguous genitalia, Ambiguous genitalia... |
ORPHA:90794 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Increased circulating renin level, Hypokalemia, Hypochloremia, Hyponatremia |
OMIM:214700 |
Mucolipidosis Ii Alpha/Beta |
|
Increased serum beta-hexosaminidase, Lower thoracic interpediculate narrowness, Lumbar scoliosis,... |
OMIM:252500 |
Beckwith-Wiedemann Syndrome |
|
Nephroblastoma, Vesicoureteral reflux, Gonadoblastoma, Cardiomegaly, Renal cortical cysts, Pancre... |
OMIM:130650 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Hypoplasia of the thymus, T lymphocytopenia, B lymphocytopenia... |
OMIM:619313 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Ambiguous genitalia, Renal dysplasia, Enlarged kidney, Polycystic kidney dysplasia, Scoliosis, Mi... |
OMIM:613091 |
Nephrogenic Diabetes Insipidus |
|
Hyposthenuria, Enuresis nocturna, Hydroureter, Renal insufficiency, Hypernatremia, Functional abn... |
ORPHA:223 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Hypernatremia, Polyuria, Megacystis |
OMIM:125800 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Hypernatremia, Polyuria, Megacystis |
OMIM:304800 |
Microphthalmia, Syndromic 9 |
|
Hydronephrosis, Agenesis of pulmonary vessels, Bilateral lung agenesis, Bicornuate uterus, Renal ... |
OMIM:601186 |
Hyperparathyroidism, Transient Neonatal |
|
Enlarged kidney, Splenic cyst, Unilateral renal agenesis, Hyperparathyroidism, Ovarian cyst |
OMIM:618188 |
Endocrine-Cerebroosteodysplasia |
|
Ambiguous genitalia, Sex reversal, Microphallus, Enlarged kidney, Hypospadias, Cryptorchidism, Hy... |
OMIM:612651 |
Cardiac-Urogenital Syndrome |
|
Ambiguous genitalia, Bifid scrotum, Enlarged kidney, Patent urachus, Pulmonary hypoplasia, Unilat... |
OMIM:618280 |
Alg9-Cdg |
|
Hypoplasia of the bladder, Periportal fibrosis, Bicornuate uterus, Enlarged kidney, Abnormal lung... |
ORPHA:79328 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Vertebral fusion, Hypoplasia of the vagina, Vertebral segmentation defect, Abnormality of the kid... |
ORPHA:3109 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Ambiguous genitalia, Vesicovaginal fistula, Bifid scrotum, Fused labia majora, Decreased circulat... |
OMIM:201750 |
Japanese Encephalitis |
|
Neutrophilia, Pulmonary edema, Hyponatremia |
ORPHA:79139 |
Immunodeficiency 82 With Systemic Inflammation |
|
Bronchitis, Anemia, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, Bron... |
OMIM:619381 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Lissencephaly, Microcephaly, Dysplastic corpus callosum, Agenesis of corpus callosum, Polymicrogyria |
OMIM:614833 |
Infant Botulism |
|
Hyponatremia |
ORPHA:178478 |
Beckwith-Wiedemann Syndrome |
|
Gonadoblastoma, Elevated circulating alpha-fetoprotein concentration, Hepatoblastoma, Hepatomegal... |
ORPHA:116 |
Heterotaxy, Visceral, 1, X-Linked |
|
Bilateral trilobed lung, Asplenia, Biliary atresia, Absence of the sacrum, Block vertebrae, Enlar... |
OMIM:306955 |
Ogden Syndrome |
|
Microvesicular hepatic steatosis, Pulmonary edema, Decreased testicular size, Enlarged kidney, Po... |
OMIM:300855 |
Chronic Bilirubin Encephalopathy |
|
Hemolytic anemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice, Hypernatremia, Hypoal... |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Hemolytic anemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice, Hypernatremia, Hypoal... |
ORPHA:529799 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Increased circulating prolactin concentration, Gonadotropin deficiency, Decreased response to gro... |
ORPHA:293987 |
Leprechaunism |
|
Clitoral hypertrophy, Enlarged kidney, Hypokalemia, Labial hypertrophy, Increased circulating ren... |
ORPHA:508 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyponatremia, Hyperammonemia, Hepatomegaly, Elevated circulating creatine kinase concentration |
OMIM:610505 |
Gracile Bone Dysplasia |
|
Asplenia, Hypoplastic spleen, Hypocalcemia, Micropenis |
OMIM:602361 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Nephroblastoma, Chronic neutropenia, Multicystic kidney dysplasia, Bifid ureter, Renal malrotatio... |
ORPHA:500095 |
Mucolipidosis Iv |
|
Dysplastic corpus callosum, Microcephaly, Cerebral dysmyelination |
OMIM:252650 |
Joubert Syndrome 23 |
|
Dysplastic corpus callosum |
OMIM:616490 |
Pyruvate Carboxylase Deficiency |
|
Hyperlysinemia, Hyperalaninemia, Hypoglutaminemia, Hypertaurinemia, Lacticaciduria, Neonatal hype... |
ORPHA:3008 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypernatremia, Recurrent respiratory infections |
OMIM:615508 |
Combined Oxidative Phosphorylation Deficiency 54 |
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Secondary microcephaly, Dysplastic corpus callosum, Periventricular nodular heterotopia, Perivent... |
OMIM:619737 |
Helsmoortel-Van Der Aa Syndrome |
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Hyperlordosis, Enuresis nocturna, Decreased response to growth hormone stimulation test, Recurren... |
OMIM:615873 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
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Nephroblastoma, Enlarged kidney, Vertebral segmentation defect, Polysplenia, Abnormal lung lobati... |
OMIM:312870 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
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Hypokalemia, Recurrent lower respiratory tract infections, Hyponatremia |
OMIM:618426 |
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism |
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Dysplastic corpus callosum |
OMIM:601016 |
Dworschak-Punetha Neurodevelopmental Syndrome |
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Dysplastic corpus callosum, Microcephaly, Agenesis of corpus callosum, Colpocephaly |
OMIM:619955 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3 |
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Abnormal periventricular white matter morphology, Periventricular leukomalacia, Small basal gangl... |
OMIM:616900 |
Stormorken Syndrome |
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Asplenia, Anemia, Howell-Jolly bodies, Hematuria, Elevated circulating creatine kinase concentrat... |
OMIM:185070 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
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Pleural effusion, Enlarged kidney, Cardiomegaly, Pulmonary edema |
OMIM:261740 |
Pontocerebellar Hypoplasia Type 2 |
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Hypoplasia of the corpus callosum, Progressive microcephaly, Dysplastic corpus callosum, Abnormal... |
ORPHA:2524 |
Pearson Syndrome |
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Reticulocytosis, Lacticaciduria, Hepatic steatosis, Hypoparathyroidism, Hepatomegaly, Bone marrow... |
ORPHA:699 |
Hartsfield Syndrome |
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Gonadotropin deficiency, Hypospadias, Cryptorchidism, Hypernatremia, Micropenis |
OMIM:615465 |
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
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Simplified gyral pattern, Dysplastic corpus callosum, Microcephaly |
OMIM:620001 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
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Dysplastic corpus callosum |
OMIM:620135 |
Even-Plus Syndrome |
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Dysplastic corpus callosum, Agenesis of corpus callosum |
OMIM:616854 |
Lissencephaly Syndrome, Norman-Roberts Type |
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Hypoplastic spleen |
ORPHA:89844 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
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Cerebral cortical atrophy, Lateral ventricle dilatation, Multifocal cerebral white matter abnorma... |
ORPHA:488627 |
Microcephaly 26, Primary, Autosomal Dominant |
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Simplified gyral pattern, Microcephaly, Pachygyria, Hypoplasia of the corpus callosum, Dysplastic... |
OMIM:619179 |
Autosomal Recessive Cutis Laxa Type 2A |
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Primary microcephaly, Secondary microcephaly, Thick cerebral cortex, Pachygyria, Dysplastic corpu... |
ORPHA:357058 |
Kapur-Toriello Syndrome |
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Dysplastic corpus callosum, Pachygyria, Polymicrogyria |
ORPHA:2328 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
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Partial agenesis of the corpus callosum, Focal polymicrogyria, Dysplastic corpus callosum, Microc... |
OMIM:619103 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
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Dysplastic corpus callosum, Microcephaly |
OMIM:604273 |
Oculoskeletodental Syndrome |
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Dysplastic corpus callosum, Focal white matter lesions |
ORPHA:557003 |
Cerebrofacioarticular Syndrome |
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Gray matter heterotopia, Microcephaly, Hypoplasia of the corpus callosum, Dysplastic corpus callo... |
ORPHA:314679 |
Combined Oxidative Phosphorylation Deficiency 53 |
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Secondary microcephaly, Dysplastic corpus callosum |
OMIM:619423 |
Combined Oxidative Phosphorylation Deficiency 12 |
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Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Leukoencephalopathy, Dysplastic c... |
OMIM:614924 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
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Periventricular cysts, Lateral ventricle dilatation, Hyperintensity of cerebral white matter on M... |
ORPHA:544488 |
Osteogenesis Imperfecta |
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Biconcave vertebral bodies, Kyphosis, Cervical kyphosis, Pulmonary hypoplasia, Enlarged vertebral... |
ORPHA:666 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
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Dysplastic corpus callosum |
OMIM:618810 |
Genitourinary And/Or Brain Malformation Syndrome |
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Gray matter heterotopia, Polymicrogyria, Secondary microcephaly, Holoprosencephaly, Absent septum... |
OMIM:618820 |
Myhre Syndrome |
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Vertebral fusion, Platyspondyly, Enlarged vertebral pedicles, Short neck, Cryptorchidism |
OMIM:139210 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
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Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Microcephaly |
OMIM:618569 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
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Dysplastic corpus callosum |
ORPHA:363444 |
Lenz-Majewski Hyperostotic Dwarfism |
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Cerebral cortical atrophy, Spina bifida occulta, Microcephaly, Dysplastic corpus callosum, Agenes... |
OMIM:151050 |
Zttk Syndrome |
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Abnormal cerebral white matter morphology, Periventricular leukomalacia, Dysplastic corpus callos... |
OMIM:617140 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Ischemic stroke, Lateral ventricle dilatation, Simplified gyral pattern, Periventricular leukomal... |
ORPHA:500150 |
White-Kernohan Syndrome |
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Dysplastic corpus callosum |
OMIM:619426 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
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Thick corpus callosum, Dysplastic corpus callosum |
OMIM:300967 |
Witteveen-Kolk Syndrome |
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Bilateral polymicrogyria, Microcephaly, Cortical dysplasia, Hypoplasia of the corpus callosum, Dy... |
OMIM:613406 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
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Hypoplasia of the corpus callosum, Dysplastic corpus callosum |
ORPHA:466791 |