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Gene: Nr3c2 MGI:99459

Gene Summary

Name:

nuclear receptor subfamily 3, group C, member 2

Synonyms:

mineralocorticoid receptor, Mlr, MR, aldosterone receptor

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype	Allele	Zyg	Life Stage	P Value
preweaning lethality, complete penetrance	Nr3c2^Nr3c2	HOM	Early adult	0.00
preweaning lethality, incomplete penetrance	Nr3c2^Nr3c2	HOM	Early adult	0.00
increased startle reflex	Nr3c2^Nr3c2	HET	Early adult	2.31×10^-05

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Nr3c2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Nr3c2 (2 diseases)
Human diseases predicted to be associated with Nr3c2 (613 diseases)

The table below shows human diseases associated to Nr3c2 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Pseudohypoaldosteronism, Type I, Autosomal Dominant		Hyponatremia, Hyperkalemia, Dehydration, Hyperactive renin-angiotensin system, Hyperaldosteronism...	OMIM:177735
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy		Decreased circulating aldosterone level, Decreased circulating renin level	OMIM:605115

The table below shows human diseases predicted to be associated to Nr3c2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hypokalemic Tubulopathy And Deafness	Hyperaldosteronism, Increased circulating renin level, Renal salt wasting	OMIM:619406
Corticosterone Methyloxidase Type Ii Deficiency	Hyponatremia, Orthostatic hypotension, Increased circulating corticosterone level, Renal salt was...	OMIM:610600
Corticosterone Methyloxidase Type I Deficiency	Hyponatremia, Renal salt wasting, Hyperkalemia, Dehydration, Increased circulating renin level, H...	OMIM:203400
Hyperaldosteronism, Familial, Type I	Adrenal hyperplasia, Adrenogenital syndrome, Abnormality of the urinary system, Hyperaldosteronis...	OMIM:103900
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone level, D...	ORPHA:556030
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyponatremia, Renal salt wasting, Hyperkalemia, Dehydration, Hyperactive renin-angiotensin system...	OMIM:264350
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyponatremia, Hyperkalemia, Dehydration, Hyperactive renin-angiotensin system, Hyperaldosteronism...	OMIM:177735
Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Decreased urinary potassium, Renal salt wasting, Hyperkale...	ORPHA:427
Nephrogenic Diabetes Insipidus	Hypernatremic dehydration, Renal insufficiency, Hydroureter, Failure to thrive, Polyhydramnios, N...	ORPHA:223
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone level, I...	ORPHA:556037
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level	OMIM:620126
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level	OMIM:620125
Hypocalcemia, Autosomal Dominant 1	Decreased circulating parathyroid hormone level, Hypercalciuria, Nephrolithiasis, Nephrocalcinosi...	OMIM:601198
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Failure to thrive in infancy, Glucocortocoid-insensitive primary hyperaldosteronism...	ORPHA:171876
Acute Adrenal Insufficiency	Normocytic anemia, Decreased circulating cortisol level, Adrenal hypoplasia, Decreased urinary po...	ORPHA:95409
Juvenile Nephropathic Cystinosis	Dehydration, Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuri...	ORPHA:411634
Lysosomal Acid Lipase Deficiency	Adrenal calcification, Bone-marrow foam cells, Renal salt wasting, Vacuolated lymphocytes, Dehydr...	ORPHA:275761
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete	Adrenocorticotropic hormone excess, Adrenal insufficiency, Hyperaldosteronism, Renal salt wasting	OMIM:613743
Bartter Syndrome, Type 3	Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,...	OMIM:607364
Hyperaldosteronism, Familial, Type Iii	Adrenal hyperplasia, Polyuria, Hypercalciuria, Hypokalemia, Hyperaldosteronism, Decreased circula...	OMIM:613677
Central Diabetes Insipidus	Hyponatremia, Dehydration, Weight loss, Failure to thrive, Diabetes insipidus, Nocturia	ORPHA:178029
Colchicine Poisoning	Hyponatremia, Renal insufficiency, Congestive heart failure, Leukocytosis, Myocarditis, Hypovolem...	ORPHA:31824
Hypercalcemia, Infantile, 1	Failure to thrive, Polyuria, Hypercalcemia, Decreased circulating parathyroid hormone level, Neph...	OMIM:143880
Bartter Syndrome Type 4	Polyhydramnios, Renal salt wasting, Dehydration, Nephrocalcinosis, Increased circulating renin le...	ORPHA:89938
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Increased serum prostaglandin E2, Hypokalemia, Proximal tubulopathy, Increased circulating renin ...	OMIM:241150
Adrenocortical Carcinoma	Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ...	ORPHA:1501
Bartter Syndrome, Type 5, Antenatal, Transient	Hyponatremia, Polyuria, Polyhydramnios, Hypercalciuria, Hypochloremia, Hypokalemia, Increased cir...	OMIM:300971
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Decreased circulating cortisol level, Renal salt wasting, Precocious puberty, Hyper...	OMIM:614736
Hyperaldosteronism, Familial, Type Ii	Hypokalemia, Hyperaldosteronism	OMIM:605635
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti...	ORPHA:289548
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, Dehydration, Increa...	ORPHA:168558
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyponatremia, Decreased circulating cortisol level, Hypospadias, Renal salt wasting, Increased ci...	ORPHA:90791
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Edema, Increased urinary potassium...	OMIM:613090
Gaisböck Syndrome	Hypertriglyceridemia, Diabetes mellitus, Angina pectoris, Myocardial infarction, Overweight, Sple...	ORPHA:90041
Diarrhea 1, Secretory Chloride, Congenital	Hyponatremia, Polyhydramnios, Dehydration, Hypochloremia, Hypokalemia, Hyperactive renin-angioten...	OMIM:214700
Adrenal Hypoplasia, Congenital	Hyponatremia, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypopl...	OMIM:300200
Renal Hypoplasia, Bilateral	Hyponatremia, Failure to thrive, Proteinuria, Small for gestational age, Edema, Chronic kidney di...	ORPHA:97362
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Pancytopenia, Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Thrombo...	OMIM:613845
Bartter Syndrome, Type 1, Antenatal	Hyperparathyroidism, Increased serum prostaglandin E2, Polyhydramnios, Renal salt wasting, Dehydr...	OMIM:601678
Hyperchlorhidrosis, Isolated	Hyponatremia, Hypernatremic dehydration, Failure to thrive, Hyperkalemia	OMIM:143860
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Edema, ...	OMIM:602522
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Elevated left ventricular end-diastolic diameter, Polyuria, Dilated cardiomyopathy,...	OMIM:620152
East Syndrome	Renal salt wasting, Renal magnesium wasting, Enuresis, Hypokalemia, Hyperaldosteronism, Increased...	ORPHA:199343
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Hyposthenuria, Decreased serum creatin...	OMIM:300539
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Decreased circulating cortisol level, Renal salt wasting, Dehydration, Premature adrenarche, Hypo...	ORPHA:90794
Hyperaldosteronism, Familial, Type Iv	Hyperaldosteronism	OMIM:617027
Wolcott-Rallison Syndrome	Hyponatremia, Acute hepatic failure, Renal insufficiency, Elevated hepatic transaminase, Neonatal...	ORPHA:1667
Liddle Syndrome 1	Renal insufficiency, Decreased circulating aldosterone level, Hypokalemia, Decreased circulating ...	OMIM:177200
Vitamin B12-Responsive Methylmalonic Acidemia	Renal insufficiency, Hyperammonemia, Dehydration, Failure to thrive, Anemia	ORPHA:28
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Hydrops ...	OMIM:613673
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Nephrolithiasis, Intracranial hemorrh...	ORPHA:369929
Snakebite Envenomation	Hyponatremia, Tachycardia, Epistaxis, Edema, Myocardial infarction, Angioedema, Intracranial hemo...	ORPHA:449285
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Hypovolemia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephr...	ORPHA:47159
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldosteronism, Ne...	ORPHA:231625
Bartter Syndrome, Type 2, Antenatal	Increased serum prostaglandin E2, Polyhydramnios, Renal salt wasting, Dehydration, Nephrocalcinos...	OMIM:241200
Addison Disease	Normocytic anemia, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasi...	ORPHA:85138
Apparent Mineralocorticoid Excess	Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Hypertension, Hypokal...	ORPHA:320
Isobutyryl-Coa Dehydrogenase Deficiency	Dicarboxylic aciduria, Elevated circulating acylcarnitine concentration, Dilated cardiomyopathy, ...	ORPHA:79159
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Polyuria, Renal salt wasting, Enuresis, Hypokalemia, Hyperaldosteronism, Hypocalciuria, Increased...	OMIM:612780
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Hypercalciuria, Dehydration, Nephrocalcinosis, Hypokalemia, Distal renal tubular acidosis, Failur...	OMIM:602722
Familial Hyperaldosteronism Type Iii	Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperal...	ORPHA:251274
Hereditary Coproporphyria	Dark urine, Hyponatremia, Tachycardia, Abnormal circulating porphyrin concentration, Porphyrinuri...	ORPHA:79273
Familial Glucocorticoid Deficiency	Hyponatremia, Decreased circulating dehydroepiandrosterone concentration, Recurrent urinary tract...	ORPHA:361
Microvillus Inclusion Disease	Nephrocalcinosis, Hypovolemia, Abnormal renal physiology, Dehydration	ORPHA:2290
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy	Decreased circulating aldosterone level, Decreased circulating renin level	OMIM:605115
Cystinosis	Renal insufficiency, Proteinuria, Portal hypertension, Nephrogenic diabetes insipidus, Dehydratio...	ORPHA:213
Combined Malonic And Methylmalonic Acidemia	Dicarboxylic acidemia, Methylmalonic acidemia, Elevated hepatic transaminase, Dicarboxylic acidur...	ORPHA:289504
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Renal insufficiency, Thrombocytopenia, Splenomegaly, Hyperammonemia, Dehydration, Cardiomyopathy,...	ORPHA:79312
Cocaine Intoxication	Prolonged QRS complex, Elevated circulating creatine kinase concentration, Myocardial infarction,...	ORPHA:90068
Glucose-Galactose Malabsorption	Renal insufficiency, Failure to thrive, Hypercalcemia, Nephrolithiasis, Dehydration, Weight loss,...	ORPHA:35710
Familial Hyperaldosteronism Type Ii	Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ...	ORPHA:404
Transient Neonatal Diabetes Mellitus	Small for gestational age, Abnormality of the kidney, Maternal diabetes, Maturity-onset diabetes ...	ORPHA:99886
Gitelman Syndrome	Prolonged QT interval, Polyuria, Renal magnesium wasting, Ventricular tachycardia, Enuresis, Hypo...	OMIM:263800
Congenital Isolated Acth Deficiency	Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Hyperkalemia, Hepatitis, ...	ORPHA:199296
Isolated Permanent Neonatal Diabetes Mellitus	Failure to thrive, Ketonuria, Neonatal insulin-dependent diabetes mellitus, Abnormality of the up...	ORPHA:99885
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Nephrolithiasis, Hypertension, Hypokalemia, Second degree atrioventricular block, Primary hyperal...	OMIM:615474
Primary Unilateral Adrenal Hyperplasia	Adrenal hyperplasia, Epistaxis, Increased urinary potassium, Glucocortocoid-insensitive primary h...	ORPHA:231580
Neuroleptic Malignant Syndrome	Urinary incontinence, Elevated circulating creatine kinase concentration, Pulmonary embolism, Deh...	ORPHA:94093
Ectopic Aldosterone-Producing Tumor	Glucocortocoid-insensitive primary hyperaldosteronism, Renal cortical adenoma, Hypokalemia, Adren...	ORPHA:231632
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Sudden cardiac death, Pericardial effusion, Abnormal renal tubular resorption, Congestive heart f...	ORPHA:73224
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Elevated hepatic transaminase, Giant cell hepatitis, Small for gestational age, Conjugated hyperb...	OMIM:208085
Generalized Pustular Psoriasis	Hyponatremia, Elevated hepatic transaminase, Renal insufficiency, Elevated circulating C-reactive...	ORPHA:247353
Familial Hyperaldosteronism Type I	Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Intracranial hemorrhage, Hypertension...	ORPHA:403
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Elevated circulating creatine kinase concentration, Hyperkalemia, Increased circulating lactate d...	OMIM:268200
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Decreased circulating cortisol level, Hashimoto thyroiditis, Hyponatremia, Hyp...	ORPHA:199299
Spinocerebellar Ataxia, Autosomal Recessive 23	Hyponatremia, Arrhythmia, Neutropenia	OMIM:616949
Porphyria Variegata	Hyponatremia, Elevated hepatic transaminase, Neurogenic bladder, Abnormal circulating enzyme conc...	ORPHA:79473
Renal Hypoplasia	Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ...	ORPHA:93101
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr...	ORPHA:189427
Apparent Mineralocorticoid Excess	Small for gestational age, Hypertension, Hypokalemia, Failure to thrive, Decreased circulating al...	OMIM:218030
Liddle Syndrome 2	Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin level	OMIM:618114
Liddle Syndrome 3	Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin level	OMIM:618126
Marburg Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Dehydration, Leukopenia, Hypoalbuminemia, Abn...	ORPHA:99826
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Hyperkalemia, Stage 5 chronic kidney disease, ...	OMIM:602088
Combined Malonic And Methylmalonic Aciduria	Failure to thrive, Methylmalonic aciduria, Dehydration	OMIM:614265
Vitamin B12-Unresponsive Methylmalonic Acidemia	Renal insufficiency, Macrocytic anemia, Thrombocytopenia, Hyperammonemia, Dehydration, Leukopenia...	ORPHA:27
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Generalized edema, Hypertriglyceridemia, I...	OMIM:267700
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Polyuria, Polyhydramnios, Pericardial effusion, Elevated circ...	OMIM:618183
Gitelman Syndrome	Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Hyperhidrosis, Tubulointers...	ORPHA:358
Porphyria Due To Ala Dehydratase Deficiency	Hyponatremia, Abnormal circulating enzyme concentration or activity, Abnormal erythrocyte enzyme ...	ORPHA:100924
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Reticulocytosis, Anuria, Myocardial infarction, Leukocytosis, Schistocytosis, Eleva...	ORPHA:90038
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Hyponatremia, Decreased response to growth hormone stimulation test, Precocious puberty, Pituitar...	ORPHA:91354
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Cerebellar hemorrhage, Stage 5 chronic kidney disease, Hyperammonemia, Me...	OMIM:251000
Propionic Acidemia	Pancytopenia, Increased level of hippuric acid in urine, Thrombocytopenia, Cerebellar hemorrhage,...	OMIM:606054
Glycogen Storage Disease Due To Aldolase A Deficiency	Hemolytic anemia, Reduced circulating aldolase concentration, Myoglobinuria, Hyperkalemia, Arrhyt...	ORPHA:57
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Decreased circulating cortisol level, Male hypogonadism, Micropenis, Decreased circulating renin ...	ORPHA:90793
Adenohypophysitis	Hyponatremia, Decreased circulating cortisol level, Orthostatic hypotension, Reduced circulating ...	ORPHA:95512
Carnitine Deficiency, Systemic Primary	Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Elevated circulating a...	OMIM:212140
Hypoadrenocorticism, Familial	Hyponatremia, Hyperkalemia, Adrenal hypoplasia, Adrenal insufficiency	OMIM:240200
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Polyuria, Megacystis, Hypertonic dehydration, Hypernatremia, Failure to thrive, Diabetes insipidus	OMIM:304800
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Polyuria, Nephrogenic diabetes insipidus, Megacystis, Hypertonic dehydration, Hypernatremia, Fail...	OMIM:125800
Familial Renal Glucosuria	Recurrent urinary tract infections, Elevated hemoglobin A1c, Abnormal circulating insulin concent...	ORPHA:69076
Erythrocytosis, Familial, 2	Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, H...	OMIM:263400
Alg8-Cdg	Hyponatremia, Elevated hepatic transaminase, Small for gestational age, Edema, Thrombocytopenia, ...	ORPHA:79325
Panhypophysitis	Hyponatremia, Decreased circulating cortisol level, Orthostatic hypotension, Reduced circulating ...	ORPHA:95513
Mirage Syndrome	Hyponatremia, Recurrent urinary tract infections, Hypospadias, Hypergonadotropic hypogonadism, Ad...	OMIM:617053
Methylmalonyl-Coa Epimerase Deficiency	Ketonuria, Methylmalonic aciduria, Elevated circulating palmitoleylcarnitine concentration, Hyper...	OMIM:251120
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Elevated hepatic transaminase, Generalized edema, Hypertriglyceridemia, Pancytopeni...	OMIM:603553
Cholera	Hyponatremia, Tachycardia, Abnormality of renal excretion, Abnormal blood ion concentration, Dehy...	ORPHA:173
Genetic Recurrent Myoglobinuria	Dark urine, Elevated hepatic transaminase, Renal insufficiency, Recurrent myoglobinuria, Exercise...	ORPHA:99845
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Decreased circulating cortisol level, Premature pubarche, Premature thelarche, Renal salt wasting...	ORPHA:90795
Intellectual Developmental Disorder, Autosomal Recessive 54	Exaggerated startle response	OMIM:617028
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Ed...	ORPHA:103910
Ovarian Hyperstimulation Syndrome	Generalized edema, Increased circulating gonadotropin level, Hypovolemia, Capillary leak, Periphe...	ORPHA:64739
Cystinosis, Nephropathic	Dehydration, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophospha...	OMIM:219800
Polycythemia Vera	Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi...	OMIM:263300
Pseudohypoaldosteronism, Type Iic	Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia, Decreased circulating renin level	OMIM:614492
Legionnaires Disease	Hyponatremia, Renal insufficiency, Pericarditis, Proteinuria, Splenomegaly, Jaundice, Myocarditis...	ORPHA:549
Shigellosis	Hyponatremia, Failure to thrive in infancy, Hemolytic-uremic syndrome, Myocarditis, Leukocytosis,...	ORPHA:810
Osteopetrosis, Autosomal Recessive 9	Hyperparathyroidism, Stage 3 chronic kidney disease, Elevated circulating creatinine concentratio...	OMIM:620366
Sheehan Syndrome	Hyponatremia, Decreased circulating cortisol level, Orthostatic hypotension, Reduced circulating ...	ORPHA:91355
Andersen-Tawil Syndrome	Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil...	ORPHA:37553
Oligomeganephronia	Renal insufficiency, Proteinuria, Small for gestational age, Unilateral renal agenesis, Abnormal ...	ORPHA:2260
Laryngeal Neuroendocrine Tumor	Adrenocorticotropic hormone excess, Elevated carcinoembryonic antigen level, Weight loss, Increas...	ORPHA:100083
Tempi Syndrome	Transudative pleural effusion, Abnormality of the kidney, Telangiectasia, Intracranial hemorrhage...	ORPHA:284227
Methylmalonic Aciduria, Cblb Type	Methylmalonic acidemia, Pancytopenia, Ketonuria, Thrombocytopenia, Hyperammonemia, Methylmalonic ...	OMIM:251110
Diabetes Mellitus, Transient Neonatal, 1	Severe failure to thrive, Transient neonatal diabetes mellitus, Dehydration	OMIM:601410
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome	Hyponatremia	ORPHA:3225
Reticular Dysgenesis	Abnormality of neutrophils, Dehydration, Weight loss, Leukopenia, Failure to thrive, Aplasia/Hypo...	ORPHA:33355
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Hyponatremia, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Increased circulating dehydr...	OMIM:201810
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Hyponatremia, Cerebral vasculitis, Thrombocytopenia, Leukocytosis, Hypothyroidism, Hashimoto thyr...	ORPHA:83601
Erythrocytosis, Familial, 4	Increased hematocrit, Polycythemia, Increased hemoglobin, Elevated circulating erythropoietin con...	OMIM:611783
Necrotizing Enterocolitis	Hyponatremia, Shock, Small for gestational age, Edema, Leukocytosis, Bradycardia, Hypotension, Ne...	ORPHA:391673
Primary Fanconi Renotubular Syndrome	Hypouricemia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wa...	ORPHA:3337
Hyperkalemic Periodic Paralysis	Hyponatremia, Elevated circulating creatine kinase concentration, Congestive heart failure, Hyper...	ORPHA:682
Erythrocytosis, Familial, 5	Increased hematocrit, Polycythemia, Increased hemoglobin, Elevated circulating erythropoietin con...	OMIM:617907
Methylmalonic Aciduria, Cbla Type	Methylmalonic acidemia, Pancytopenia, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Th...	OMIM:251100
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Decreased circulating cortisol level, Adrenal hyperplasia, Jaundice, Hyperkalemia, ...	ORPHA:90790
Osteootohepatoenteric Syndrome	Proteinuria, Grade II vesicoureteral reflux, Dehydration, Weight loss, Hypokalemia, Increased ser...	OMIM:619377
Malignant Hyperthermia, Susceptibility To, 1	Tachycardia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia,...	OMIM:145600
Erythrocytosis, Familial, 1	Myocardial infarction, Cerebral hemorrhage, Splenomegaly, Increased hemoglobin, Increased red blo...	OMIM:133100
Whipple Disease	Hyponatremia, Gastrointestinal hemorrhage, Pericarditis, Cachexia, Myocardial infarction, Splenom...	ORPHA:3452
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Hydrops fetalis, Dehydration, Reticulocytopenia, 3-Methylglutaric aciduria,...	OMIM:557000
Hemorrhagic Fever-Renal Syndrome	Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis...	ORPHA:340
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Abnormality of thyroid physiology, Abnormal blood ion concentration, Abnormal ...	ORPHA:411629
Acute Intermittent Porphyria	Dark urine, Hyponatremia, Renal insufficiency, Abnormal circulating enzyme concentration or activ...	ORPHA:79276
Leprechaunism	Long penis, Hyperinsulinemia, Hypercalciuria, Central hypothyroidism, Nephrocalcinosis, Hypokalem...	ORPHA:508
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Congenital adrenal hyperplasia, Long penis, Decreased circulating aldosterone level, Adrenogenita...	OMIM:202010
Chronic Hiccup	Dehydration, Weight loss	ORPHA:396
Pearson Syndrome	Decreased response to growth hormone stimulation test, Hydrops fetalis, Renal cyst, Dehydration, ...	ORPHA:699
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Decreased circulating cortisol level, Decreased serum insulin-like growth factor 1,...	ORPHA:293978
Hemangioma-Thrombocytopenia Syndrome	Ventricular arrhythmia, Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:141000
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Hypoammonemia, Dehydration, Oligosacchariduria, Nephrocalcinosis, Aminoacidu...	ORPHA:534
Dopamine Beta-Hydroxylase Deficiency	Abnormal EKG, Orthostatic hypotension, Elevated urinary dopamine level, Hyperinsulinemia, Elevate...	ORPHA:230
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Ketonuria, Elevated circulating growth hormone concentration, Multiple pancreatic beta-cell adeno...	ORPHA:79644
Pituitary Apoplexy	Hyponatremia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te...	ORPHA:95613
Rhabdoid Tumor	Renal neoplasm, Hypercalcemia, Thrombocytopenia, Weight loss, Hematuria, Hypertension, Internal h...	ORPHA:69077
Distal Renal Tubular Acidosis	Hemolytic anemia, Hyperphosphaturia, Failure to thrive, Hypocitraturia, Nephrolithiasis, Renal cy...	ORPHA:18
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hemolytic anemia, Hypertensive crisis, Anuria, Diabetes mellitus, Edema, Myocarditi...	ORPHA:544482
Thymic Neuroendocrine Tumor	Calcium nephrolithiasis, Hypercalcemia, Pituitary null cell adenoma, Pancreatic islet cell adenom...	ORPHA:97289
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Elevated urinary 3-hydroxybutyric acid, Ketonuria, Hypoargininemia, Hyperglutaminemia, Low plasma...	OMIM:615751
Vipoma	Dehydration, Follicular thyroid carcinoma, Intermittent jaundice, Hematochezia, Hypokalemia, Incr...	ORPHA:97282
Isovaleric Acidemia	Pancytopenia, Cerebellar hemorrhage, Hyperglycinuria, Dehydration, Leukopenia, Thrombocytopenia	OMIM:243500
Birk-Landau-Perez Syndrome	Stage 3 chronic kidney disease, Renal insufficiency, Failure to thrive in infancy, Hyperkalemia, ...	OMIM:617595
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Hypertension, Aminoac...	OMIM:617913
Non-Functioning Paraganglioma	Paraganglioma of head and neck, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephri...	ORPHA:94080
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Neonatal death, Myoglobinuria, Decreased liver function, Dehydration	OMIM:602199
Liddle Syndrome	Renal insufficiency, Hypertension, Hypokalemia, Cerebral ischemia, Nephropathy, Arrhythmia	ORPHA:526
Herpes Simplex Virus Encephalitis	Hyponatremia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, ...	ORPHA:1930
Intellectual Developmental Disorder, Autosomal Dominant 70	Hyponatremia, Failure to thrive, Retinal telangiectasia	OMIM:620157
Aica-Ribosuria Due To Atic Deficiency	Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level, Hyponatremia	OMIM:608688
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Acute hepatic failure, Elevated hepatic transaminase, Ketonuria, Hyperammonemia, Dehydration, Fai...	OMIM:615453
Webb-Dattani Syndrome	Neurogenic bladder, Decreased response to growth hormone stimulation test, Anterior pituitary hyp...	OMIM:615926
Idiopathic Achalasia	Decreased prealbumin level, Weight loss	ORPHA:930
Posttransplant Acute Limbic Encephalitis	Hyponatremia	ORPHA:163921
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Polyuria, Dehydration, Proximal tubulopathy, Type I diabetes mellitus, Failure to thrive	OMIM:560000
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Isothenuria, Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Nephrocalcinosis, Decreased m...	OMIM:611590
3-Hydroxy-3-Methylglutaric Aciduria	Elevated hepatic transaminase, Acute pancreatitis, Ketonuria, Cardiac arrest, Edema, Leukocytosis...	ORPHA:20
Pseudohypoaldosteronism, Type Iia	Hypertension, Pseudohypoaldosteronism, Hyperkalemia	OMIM:145260
Chédiak-Higashi Syndrome	Edema, Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Hyponatremia...	ORPHA:167
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differentiation, Hema...	OMIM:263200
Alg12-Cdg	Hyponatremia, Elevated hepatic transaminase, Decreased serum insulin-like growth factor 1, Abnorm...	ORPHA:79324
Multiple Endocrine Neoplasia, Type Iia	Hyperparathyroidism, Thyroid C cell hyperplasia, Elevated urinary norepinephrine level, Elevated ...	OMIM:171400
Secondary Short Bowel Syndrome	Low plasma citrulline, Abnormal blood ion concentration, Dehydration, Central hypothyroidism, Wei...	ORPHA:95427
Secondary Intestinal Lymphangiectasia	Lymphopenia, Intestinal lymphedema, Edema, Lymphedema, Right ventricular failure, Reduced circula...	ORPHA:90363
Diarrhea 4, Malabsorptive, Congenital	Failure to thrive, Dehydration	OMIM:610370
Sporadic Pheochromocytoma/Secreting Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Proteinuria, Hypercalcemia, Cerebr...	ORPHA:276621
Thyrotoxic Periodic Paralysis	Decreased urinary potassium, Thyrotoxicosis with diffuse goiter, Hyperhidrosis, Impaired myocardi...	ORPHA:79102
Familial Dysautonomia	Hyponatremia, Glomerulopathy, Renal insufficiency, Orthostatic hypotension, Tachycardia, Abnormal...	ORPHA:1764
Wild Type Attr Amyloidosis	Abnormal EKG, Renal insufficiency, Proteinuria, Myocardial infarction, Congestive heart failure, ...	ORPHA:330001
Beta-Ketothiolase Deficiency	Ketonuria, Edema, Leukocytosis, Hyperammonemia, Weight loss, Dehydration, Hypertension, Hyperuric...	ORPHA:134
Aicardi-Goutieres Syndrome 9	Edema, Hypoalbuminemia, Micropenis, Hypothyroidism, Hemolytic anemia, Portal hypertension, Perica...	OMIM:619487
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Increased circulating ...	OMIM:613239
Autosomal Recessive Polycystic Kidney Disease	Elevated gamma-glutamyltransferase level, Hyponatremia, Portal hypertension, Oliguria, Hepatosple...	ORPHA:731
Infant Botulism	Hyponatremia, Cardiac arrest, Xerostomia, Hypertension, Hypotension	ORPHA:178478
Corticosteroid-Binding Globulin Deficiency	Decreased circulating cortisol level, Decreased urinary potassium, Hypertension, Hypokalemia, Hyp...	OMIM:611489
Galactose Epimerase Deficiency	Splenomegaly, Aminoaciduria, Jaundice, Weight loss	ORPHA:79238
Hereditary Amyloidosis With Primary Renal Involvement	Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Nephropathy, Decreased glo...	ORPHA:85450
Mu-Heavy Chain Disease	Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Weight loss, Nephropathy, Anemia	ORPHA:100024
Lactase Deficiency, Congenital	Decreased small intestinal mucosa lactase level, Dehydration	OMIM:223000
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Elevated circulating aspartate aminotransferase concentration, Conjuga...	OMIM:618528
Inflammatory Skin And Bowel Disease, Neonatal, 2	Hypertension, Failure to thrive, Polyhydramnios, Dehydration	OMIM:616069
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:609820
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Hypomethioninemia, Megaloblastic anemia, Pulmonary embolism, Hydrops fetalis, Dehydration, Hyperh...	ORPHA:79282
Hyperoxaluria, Primary, Type I	Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Raynaud phenomenon, Arterial...	OMIM:259900
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha-fetoprotein c...	OMIM:613095
Hereditary Pheochromocytoma-Paraganglioma	Episodic hyperhidrosis, Adrenal pheochromocytoma, Positive regitine blocking test, Extraadrenal p...	ORPHA:29072
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Al Amyloidosis	Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Xerostomia, Hypoalbuminemia, ...	ORPHA:85443
Malignant Hyperthermia Of Anesthesia	Acute hepatic failure, High-output congestive heart failure, Myoglobinuria, Hyperkalemia, Ventric...	ORPHA:423
Combined Oxidative Phosphorylation Deficiency 47	Elevated hepatic transaminase, Failure to thrive, Dehydration	OMIM:618958
Fanconi Renotubular Syndrome 1	Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica...	OMIM:134600
Pseudohypoaldosteronism, Type Iib	Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia, Hypertension	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia, Hypertension	OMIM:614495
Multiple Endocrine Neoplasia Type 1	Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t...	ORPHA:652
Pigmented Nodular Adrenocortical Disease, Primary, 3	Increased circulating cortisol level, Adrenal hyperplasia	OMIM:614190
Periodic Fever, Menstrual Cycle-Dependent	Increased circulating cortisol level	OMIM:614674
Glucose/Galactose Malabsorption	Failure to thrive, Hypertonic dehydration, Glycosuria	OMIM:606824
Attrv30M Amyloidosis	Atrioventricular block, Weight loss, Cardiomyopathy, Nephropathy, Arrhythmia, Abnormal renal phys...	ORPHA:85447
Liver Disease, Severe Congenital	Abnormal left ventricular function, Leukopenia, Aminoaciduria, Hypocalcemia, Lymphocytosis, Eleva...	OMIM:619991
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Renal insufficiency, Tachycardia, Atrial fibrillation, Congestive h...	ORPHA:31826
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
Pseudohypoaldosteronism, Type Iie	Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia, Hypertension	OMIM:614496
Mitochondrial Complex I Deficiency, Nuclear Type 32	Hyponatremia, Failure to thrive, Small for gestational age, Patent urachus	OMIM:618252
Malignant Hyperthermia, Susceptibility To, 2	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154275
Fanconi-Bickel Syndrome	Hyperphosphaturia, Ketonuria, Proteinuria, Hypouricemia, Elevated circulating aspartate aminotran...	OMIM:227810
Malignant Hyperthermia, Susceptibility To, 3	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154276
Renal Tubular Acidosis, Distal, 1	Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N...	OMIM:179800
Pseudohypoaldosteronism Type 2	Hypertension, Hyperkalemia	ORPHA:757
Acute Interstitial Pneumonia	Elevated circulating C-reactive protein concentration, Pericardial effusion, Elevated circulating...	ORPHA:79126
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Periorbital edema, Leukocytosis, Oliguria, Weight loss, Central hypothy...	ORPHA:514
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased circulating...	OMIM:615954
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome	Episodic hypokalemia, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, Renal potassium ...	ORPHA:564178
Rabin-Pappas Syndrome	Hyponatremia, Failure to thrive in infancy, Obesity, Retinal telangiectasia	OMIM:620155
Enteric Anendocrinosis	Type I diabetes mellitus, Portal hypertension, Dehydration	ORPHA:83620
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Cachexia, Weight loss, Aminoaciduria, Proximal tubulopathy, Failure to thrive	OMIM:612075
Refractory Celiac Disease	Normocytic anemia, Elevated hepatic transaminase, Macrocytic anemia, Elevated alkaline phosphatas...	ORPHA:398063
Alpha-Methylacetoacetic Aciduria	Dehydration	OMIM:203750
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Polyuria, Renal magnesium wasting, Nephrocalcinosis, Hypokalemia, Hypomagnesemia, Renal potassium...	OMIM:618314
Familial Pseudohyperkalemia	Reticulocytosis, Hyperkalemia, Hypertension, Stomatocytosis, Increased mean corpuscular volume, E...	ORPHA:90044
Diencephalic Syndrome	Cachexia, Long penis, Hyperhidrosis, Decreased body weight, Abnormality of the hypothalamus-pitui...	ORPHA:1672
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Systemic Capillary Leak Syndrome	Renal insufficiency, Pulmonary edema, Pericarditis, Myocarditis, Leukocytosis, Oliguria, Pedal ed...	ORPHA:188
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Elevated circulating C-reactive protein concentration, Pedal edema, Large vess...	ORPHA:49041
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hyponatremia, Decreased circulating dehydroepiandrosterone concentration, Decreased circulating c...	OMIM:201750
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Tachycardia, Hyperthyroidism, Weight loss, Hypokalemia, Palpitations, Goiter	OMIM:188580
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Hyperamylasemia, Impaired renal tubular reabsorption of bicarbonate, Bicarbonate-wasting renal tu...	OMIM:604278
Pigmented Nodular Adrenocortical Disease, Primary, 1	Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig...	OMIM:610489
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Elevated circulating C-reactive protein concentration, Renal interstitial edem...	ORPHA:91500
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Aortic regurgitation, Transient ischemic attack, Subarachnoid hemorrhage, Hypovolemia, Abnormal l...	ORPHA:91387
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Increased serum pyruvate, Failure to thrive, Hyperglutamatemia, Lacticaciduria,...	ORPHA:3008
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Edema, Abnormal blood ion concentration, Renal cyst, Dehydration, Aplasia/Hyp...	ORPHA:79404
Pulmonary Blastoma	Weight loss	ORPHA:64741
Eosinophilic Gastroenteritis	Eosinophilia, Edema, Elevated circulating C-reactive protein concentration, Leukocytosis, Weight ...	ORPHA:2070
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hyperkalemia	OMIM:609153
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Elevated hepatic transaminase, Decreased response to growth hormone stimulation tes...	ORPHA:293987
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Elevated hepatic transaminase, Dicarboxylic aciduria, Ele...	ORPHA:42
Glucocorticoid Resistance, Generalized	Increased circulating cortisol level, Increased circulating androstenedione concentration, Increa...	OMIM:615962
Acute Bilirubin Encephalopathy	Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbili...	ORPHA:529799
Chronic Bilirubin Encephalopathy	Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbili...	ORPHA:529808
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Hypoalbuminemia, Hypernatremia, Pulmonic stenosis, Failure to thrive, Reduced circulating growth ...	OMIM:615508
Netherton Syndrome	Aminoaciduria, Hydronephrosis, Dehydration, Ectopic kidney	ORPHA:634
Castleman Disease	Renal insufficiency, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Jau...	ORPHA:160
Hyperkalemic Periodic Paralysis	Hyperkalemia	OMIM:170500
Cerebrooculofacioskeletal Syndrome 1	Failure to thrive, Small for gestational age, Dehydration	OMIM:214150
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hemolytic anemia, Polyhydramnios, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Hyperkal...	OMIM:608885
Symptomatic Form Of Hfe-Related Hemochromatosis	Elevated jugular venous pressure, Diabetes mellitus, Hypogonadotropic hypogonadism, Portal hypert...	ORPHA:465508
Lamellar Ichthyosis	Renal insufficiency, Dehydration	ORPHA:313
Holoprosencephaly	Hyponatremia, Hypoplasia of penis, Diabetes mellitus, Proteinuria, Failure to thrive in infancy, ...	ORPHA:2162
Diffuse Alveolar Hemorrhage	Proteinuria, Thrombocytopenia, Leukocytosis, Elevated circulating creatinine concentration, Weigh...	ORPHA:90060
Drug Reaction With Eosinophilia And Systemic Symptoms	Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Eosinophilia, Cardiac ...	ORPHA:139402
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Mantle Cell Lymphoma	Splenomegaly, Weight loss	ORPHA:52416
3-Methylglutaconic Aciduria, Type Viib	Polyhydramnios, Congestive heart failure, Dehydration, Leukopenia, 3-Methylglutaconic aciduria, N...	OMIM:616271
Exercise-Induced Malignant Hyperthermia	Prolonged QT interval, Anhidrosis, Sinus tachycardia, Elevated circulating creatine kinase concen...	ORPHA:466650
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis	Dehydration	OMIM:251850
Zollinger-Ellison Syndrome	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Elevated circulating parathyroid hormo...	ORPHA:913
Autoimmune Polyendocrinopathy Type 1	Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc...	ORPHA:3453
Ileal Neuroendocrine Tumor	Elevated hepatic transaminase, Tricuspid stenosis, Edema, Right ventricular failure, Arterial occ...	ORPHA:100078
Primary Hepatic Neuroendocrine Carcinoma	Elevated hepatic transaminase, Intrahepatic cholestasis with episodic jaundice, Elevated circulat...	ORPHA:100085
Leishmaniasis	Elevated hepatic transaminase, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Weight...	ORPHA:507
Dietary Iron Overload Disease	Viral hepatitis, Diabetes mellitus, Increased circulating ferritin concentration, Elevated transf...	ORPHA:139507
Autosomal Agammaglobulinemia	Failure to thrive, Hepatitis, Dehydration, Neutropenia	ORPHA:33110
Japanese Encephalitis	Hyponatremia, Neutrophilia, Inappropriate antidiuretic hormone secretion, Cerebral edema, Pulmona...	ORPHA:79139
Hypomagnesemia 2, Renal	Renal insufficiency, Renal magnesium wasting, Hypokalemia, Hypocalciuria, Hypomagnesemia	OMIM:154020
Somatostatinoma	Gastrointestinal hemorrhage, Diabetes mellitus, Hypercalcemia, Elevated circulating growth hormon...	ORPHA:97283
Primary Intestinal Lymphangiectasia	Lymphopenia, Edema, Pericardial effusion, Weight loss, Reduced proportion of CD4+ effector memory...	ORPHA:90362
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Proteinuria, Tachycardia, Megaloblastic anemia,...	ORPHA:35858
Pituitary Adenoma 4, Acth-Secreting	Edema, Pituitary adenoma, Obesity, Nephrolithiasis, Increased circulating ACTH level, Hypertensio...	OMIM:219090
Insulin Autoimmune Syndrome	Insulin-resistant diabetes mellitus, Weight loss, Hyperinsulinemic hypoglycemia	ORPHA:411593
Mccune-Albright Syndrome	Abnormal endocrine physiology, Hyperphosphaturia, Hyperthyroidism, Pancytopenia, Elevated circula...	ORPHA:562
Renal Tubular Acidosis Iii	Nephrocalcinosis, Hypokalemia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis	OMIM:267200
Tuberculosis	Weight loss	ORPHA:3389
Combined Oxidative Phosphorylation Deficiency 3	Hyponatremia, Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Concent...	OMIM:610505
Polyarteritis Nodosa	Pericarditis, Abnormality of the kidney, Elevated circulating C-reactive protein concentration, R...	ORPHA:767
Majeed Syndrome	Glomerulopathy, Proteinuria, Microscopic hematuria, Cachexia, Edema, Congenital hypoplastic anemi...	ORPHA:77297
Microsporidiosis	Cachexia, Abnormality of the spleen, Abnormality of the parathyroid gland, Urethritis, Myocarditi...	ORPHA:2552
Graves Disease, Susceptibility To, 1	Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Congest...	OMIM:275000
Neuroblastoma, Susceptibility To, 1	Elevated urinary catecholamine level, Elevated urinary dopamine level, Abnormality of urine catec...	OMIM:256700
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Hepatosplenomegaly, Weight loss, Hypoalbuminemia, Thrombocytosis, Ane...	OMIM:209950
Helix Syndrome	Anhidrosis, Renal insufficiency, Hyperparathyroidism, Polyuria, Hypermagnesemia, Nephrolithiasis,...	OMIM:617671
Nelson Syndrome	Increased urinary cortisol level, Pituitary corticotropic cell adenoma, Adrenocorticotropic hormo...	ORPHA:199244
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, ...	ORPHA:98850
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated hepatic transaminase, Neutrophilia, Abnormality of the kidney, Elevated circulating C-re...	ORPHA:54251
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Abnormal blood ion concentration, Tubulointerstitial nephritis, Iron deficiency anemia, Hypoalbum...	ORPHA:37042
Parathyroid Carcinoma	Renal insufficiency, Renal hamartoma, Hypercalcemia, Shortened QT interval, Primary hyperparathyr...	ORPHA:143
Multiple Myeloma	Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Abnormality of the bl...	ORPHA:29073
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Cachexia, Aminoaciduria, Elevated circulating creatine kinase concentration, Methylmalonic aciduria	ORPHA:1933
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir...	ORPHA:276152
Bangstad Syndrome	Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri...	ORPHA:1227
Simple Cryoglobulinemia	Gastrointestinal hemorrhage, Viral hepatitis, Renal insufficiency, Membranoproliferative glomerul...	ORPHA:91139
Polymyositis	Gastrointestinal hemorrhage, Abnormal renal tubule morphology, Pericarditis, Elevated circulating...	ORPHA:732
Bronchial Neuroendocrine Tumor	Tricuspid regurgitation, Elevated circulating growth hormone concentration, Right ventricular fai...	ORPHA:97287
Insulin-Resistance Syndrome Type B	Fasting hyperinsulinemia, Increased body weight, Leukopenia, Hypoalbuminemia, Hypotriglyceridemia...	ORPHA:2298
Pigmented Nodular Adrenocortical Disease, Primary, 2	Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame...	OMIM:610475
Isolated Congenital Hypoglossia/Aglossia	Weight loss	ORPHA:141152
Intestinal Dysmotility Syndrome	Failure to thrive, Polyhydramnios, Weight loss	OMIM:620045
Congenital Short Bowel Syndrome	Failure to thrive, Dehydration, Steatorrhea	OMIM:615237
Familial Cold Urticaria	Dehydration, Hyperhidrosis	ORPHA:47045
Glucagonoma	Gastrointestinal hemorrhage, Diabetes mellitus, Hypercalcemia, Elevated circulating growth hormon...	ORPHA:97280
Ppoma	Gastrointestinal hemorrhage, Hypercalcemia, Elevated circulating growth hormone concentration, Ab...	ORPHA:97278
Holocarboxylase Synthetase Deficiency	Thrombocytopenia, Organic aciduria, Hyperammonemia, Weight loss	ORPHA:79242
Glucocorticoid Deficiency 2	Decreased circulating cortisol level, Increased circulating ACTH level	OMIM:607398
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cachexia, Xerostomia, Hematochezia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Anemia	OMIM:175500
Wolman Disease	Adrenal calcification, Cachexia, Bone-marrow foam cells, Splenomegaly, Steatorrhea, Adrenal insuf...	ORPHA:75233
Amoebiasis Due To Entamoeba Histolytica	Elevated hepatic transaminase, Congestive heart failure, Leukocytosis, Weight loss, Elevated circ...	ORPHA:67
Ménétrier Disease	Gastrointestinal hemorrhage, Hypochromic microcytic anemia, Weight loss, Peripheral edema, Hypoal...	ORPHA:2494
Focal Myositis	Elevated circulating creatine kinase concentration, Weight loss	ORPHA:48918
Caroli Disease	Portal hypertension, Conjugated hyperbilirubinemia, Splenomegaly, Abnormal circulating alpha-feto...	ORPHA:53035
Igg4-Related Kidney Disease	Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits...	ORPHA:449395
Mccune-Albright Syndrome	Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio...	OMIM:174800
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ...	ORPHA:786
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hyponatremia, Hypokalemia, Failure to thrive	OMIM:618426
Acth-Independent Macronodular Adrenal Hyperplasia	Adrenal hyperplasia, Decreased circulating ACTH concentration, Increased circulating cortisol lev...	OMIM:219080
Acute Myelomonocytic Leukemia	Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia	ORPHA:517
Cystic Echinococcosis	Elevated hepatic transaminase, Eosinophilia, Jaundice, Renal cyst, Weight loss, Membranous nephro...	ORPHA:400
Grfoma	Gastrointestinal hemorrhage, Hypercalcemia, Elevated circulating growth hormone concentration, Ne...	ORPHA:97261
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Gastrointestinal hemorrhage, Ascites, Weight loss	ORPHA:2198
Yao Syndrome	Pericarditis, Xerostomia, Nephrolithiasis, Weight loss	OMIM:617321
Mitochondrial Neurogastrointestinal Encephalomyopathy	Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Cac...	ORPHA:298
Romano-Ward Syndrome	Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Torsade de pointes, Abnormal T-wav...	ORPHA:101016
Granulomatosis With Polyangiitis	Elevated circulating C-reactive protein concentration, Periorbital edema, Granulomatosis, Abnorma...	ORPHA:900
X-Linked Agammaglobulinemia	Thrombocytopenia, Hepatitis, Weight loss, Hypocalcemia, Neutropenia, Failure to thrive, Anemia	ORPHA:47
Pigmented Nodular Adrenocortical Disease, Primary, 4	Primary hypercortisolism, Increased circulating cortisol level, Diabetes mellitus, Adrenal hyperp...	OMIM:615830
Hypokalemic Periodic Paralysis	Episodic hypokalemia, Adrenocortical adenoma, Mildly elevated creatine kinase, Impaired myocardia...	ORPHA:681
Isolated Succinate-Coq Reductase Deficiency	Noncompaction cardiomyopathy, Abnormal atrioventricular conduction, Weight loss, Abnormal left ve...	ORPHA:3208
Solitary Fibrous Tumor	Reduced C-peptide level, Weight loss, Urinary retention, Hypophosphatemic rickets, Hypoinsulinemia	ORPHA:2126
Inflammatory Pseudotumor Of The Liver	Diabetes mellitus, Elevated circulating aspartate aminotransferase concentration, Elevated circul...	ORPHA:90003
Peripheral Primitive Neuroectodermal Tumor	Elevated carcinoma antigen 125 level, Elevated circulating alpha-fetoprotein concentration, Preco...	ORPHA:370348
Dend Syndrome	Elevated hemoglobin A1c, Dehydration	ORPHA:79134
Congenital Tufting Enteropathy	Steatorrhea, Failure to thrive, Dehydration, Weight loss	ORPHA:92050
Xfe Progeroid Syndrome	Elevated hepatic transaminase, Renal insufficiency, Proteinuria, Cachexia, Ascites, Hypertension,...	OMIM:610965
Neuroendocrine Tumor Of Stomach	Elevated hepatic transaminase, Tricuspid regurgitation, Right ventricular failure, Hematemesis, C...	ORPHA:100075
Igg4-Related Aortitis	Hypereosinophilia, Hydronephrosis, Elevated circulating C-reactive protein concentration, Weight ...	ORPHA:449400
Multiple Endocrine Neoplasia, Type I	Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Hypercalcemia, ...	OMIM:131100
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Nephroblastoma	Hematuria, Hypertension, Nephroblastoma, Weight loss	ORPHA:654
Wilson Disease	Acute hepatic failure, Elevated hepatic transaminase, Thrombocytopenia, Splenomegaly, Jaundice, I...	ORPHA:905
Takayasu Arteritis	Hypertensive crisis, Myocardial infarction, Vasculitis, Weight loss, Hyperhidrosis, Hypertension,...	ORPHA:3287
Scorpion Envenomation	Bundle branch block, Increased circulating NT-proBNP concentration, Edema, Hyperhidrosis, Promine...	ORPHA:466677
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Pancytopenia, Edema, Pericardial effusion, Increased circulating ferritin conce...	OMIM:615846
Celiac Disease, Susceptibility To, 1	Elevated hepatic transaminase, Macrocytic anemia, Thyroiditis, Steatorrhea, Weight loss, Iron def...	OMIM:212750
Hypokalemic Periodic Paralysis, Type 2	Hypokalemia	OMIM:613345
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Nephropathy, Polyhydramnios, Proteinuria, Cachexia	ORPHA:2774
Acute Promyelocytic Leukemia	Pancytopenia, Epistaxis, Diffuse alveolar hemorrhage, Thrombocytopenia, Leukocytosis, Weight loss...	ORPHA:520
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Cachexia, Weight loss, Type I diabetes mellitus, Abnormal circulating lipid concentration, Hyperl...	ORPHA:1979
Huntington Disease-Like 2	Weight loss	ORPHA:98934
Neuroendocrine Tumor Of The Colon	Elevated hepatic transaminase, Tricuspid regurgitation, Right ventricular failure, Weight loss, M...	ORPHA:100080
Harlequin Ichthyosis	Sudden cardiac death, Dehydration	ORPHA:457
Tsh-Secreting Pituitary Adenoma	Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,...	ORPHA:91347
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Edema, Elevated circulating C-reactive protein concentration, Vasculitis, Weight loss, Anemia	ORPHA:324964
Eosinophilic Granulomatosis With Polyangiitis	Glomerulopathy, Renal insufficiency, Recurrent intrapulmonary hemorrhage, Proteinuria, Eosinophil...	ORPHA:183
Mercury Poisoning	Tachycardia, Hypertension, Hypokalemia, Hypotension, Acute kidney injury	ORPHA:330021
Immunodeficiency 87 And Autoimmunity	Elevated circulating C-reactive protein concentration, Elevated gamma-glutamyltransferase level, ...	OMIM:619573
Spinocerebellar Ataxia 48	Urinary incontinence, Cachexia	OMIM:618093
Primary Sclerosing Cholangitis	Acute hepatic failure, Abnormal eosinophil morphology, Spider hemangioma, Hypoalbuminemia, Elevat...	ORPHA:171
Stevens-Johnson Syndrome	Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Gastrointestinal hemor...	ORPHA:36426
Rheumatoid Arthritis	Joint swelling, Vasculitis, Elevated circulating C-reactive protein concentration, Weight loss	OMIM:180300
Osteosarcoma	Abnormal lactate dehydrogenase level, Weight loss, Joint swelling, Elevated circulating alkaline ...	ORPHA:668
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Spl...	OMIM:619381
Renal Nutcracker Syndrome	Orthostatic hypotension, Tachycardia, Proteinuria, Weight loss, Hematuria, Syncope, Renal artery ...	ORPHA:71273
Erdheim-Chester Disease	Renal insufficiency, Hypogonadotropic hypogonadism, Dysuria, Congestive heart failure, Weight los...	ORPHA:35687
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hyperhidrosis, Splenomegaly, Weight loss	ORPHA:86893
Acquired Central Diabetes Insipidus	Pollakisuria, Diabetes insipidus, Weight loss	ORPHA:95626
Neuroendocrine Tumor Of The Rectum	Elevated hepatic transaminase, Tricuspid regurgitation, Right ventricular failure, Weight loss, H...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Elevated hepatic transaminase, Tricuspid regurgitation, Right ventricular failure, Weight loss, H...	ORPHA:100082
Ring Chromosome 10 Syndrome	Hypocalcemia, Cachexia, Renal hypoplasia/aplasia	ORPHA:1438
Aredyld Syndrome	Cachexia, Splenomegaly, Abnormality of the ureter, Type II diabetes mellitus, Type I diabetes mel...	ORPHA:1133
Giant Cell Arteritis	Renal insufficiency, Pericarditis, Epistaxis, Sudden cardiac death, Vasculitis, Weight loss, Hema...	ORPHA:397
Follicular Lymphoma	Lymphedema, Splenomegaly, Pleural effusion, Weight loss	ORPHA:545
Alveolar Echinococcosis	Eosinophilia, Portal hypertension, Jaundice, Pedal edema, Renal cyst, Weight loss, Abnormal splee...	ORPHA:284
Isaacs Syndrome	Hyperhidrosis, Weight loss	ORPHA:84142
Thymoma	Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Weig...	ORPHA:99867
Erythrokeratodermia Variabilis	Diabetes mellitus, Weight loss	ORPHA:317
Idiopathic Chronic Eosinophilic Pneumonia	Elevated circulating C-reactive protein concentration, Leukocytosis, Hypereosinophilia, Weight lo...	ORPHA:2902
Poems Syndrome	Diabetes mellitus, Polycythemia, Edema, Abnormality of the endocrine system, Pericardial effusion...	ORPHA:2905
Undifferentiated Pleomorphic Sarcoma	Weight loss	ORPHA:2023
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Slender build, Cachexia, Weight loss	OMIM:613662
Pleural Mesothelioma	Pleural effusion, Abnormal cardiovascular system physiology, Weight loss	ORPHA:50251
Loeffler Endocarditis	Aortic regurgitation, Pericarditis, Eosinophilia, Left ventricular diastolic dysfunction, Congest...	ORPHA:75566
Toxic Epidermal Necrolysis	Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Gastrointestinal hemor...	ORPHA:537
Deafness-Lymphedema-Leukemia Syndrome	Lymphedema, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Weight loss, I...	ORPHA:3226
Postinfectious Vasculitis	Abnormal circulating protein concentration, Viral hepatitis, Cerebral vasculitis, Membranoprolife...	ORPHA:48435
Juvenile Dermatomyositis	Calcinosis, Bundle branch block, Gastrointestinal hemorrhage, Pericarditis, Palpebral edema, Elev...	ORPHA:93672
Hartsfield Syndrome	Hypospadias, Gonadotropin deficiency, Micropenis, Hypernatremia, Diabetes insipidus	OMIM:615465
Renpenning Syndrome	Diabetes mellitus, Hypospadias, Cachexia	ORPHA:3242
Sarcoidosis	Heart block, Increased T cell count, Ventricular tachycardia, Nephrocalcinosis, Tubulointerstitia...	ORPHA:797
Thymic Carcinoma	Palpebral edema, Edema, Neoplasm of the thymus, Hyperhidrosis, Weight loss	ORPHA:99868
Moynahan Syndrome	Hypogonadism, Cachexia	ORPHA:2574
Cystic Fibrosis	Hypercalciuria, Dehydration, Hepatosplenomegaly, Steatorrhea, Failure to thrive, Pancreatitis, Ex...	OMIM:219700
Q Fever	Elevated hepatic transaminase, Pericarditis, Pericardial effusion, Thrombocytopenia, Splenomegaly...	ORPHA:781
Hypokalemic Periodic Paralysis, Type 1	Hypokalemia	OMIM:170400
Multicentric Reticulohistiocytosis	Cachexia, Histiocytosis	ORPHA:139436
Primary Myelofibrosis	Pancytopenia, Extramedullary hematopoiesis, Increased circulating lactate dehydrogenase concentra...	ORPHA:824
Cryptogenic Organizing Pneumonia	Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration, Weight loss	ORPHA:1302
Huntington Disease	Abnormal circulating cholesterol concentration, Decreased body mass index, Weight loss	ORPHA:399
Alternating Hemiplegia Of Childhood	Cardiac conduction abnormality, Dehydration, Hyperhidrosis, Cardiomyopathy, Abnormal T-wave, Arrh...	ORPHA:2131
Pulmonary Alveolar Microlithiasis	Calcium nephrolithiasis, Right ventricular failure, Abnormal circulating calcium concentration, I...	ORPHA:60025
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Pedal edema, Left bund...	ORPHA:75565
Rabson-Mendenhall Syndrome	Increased pineal volume, Precocious puberty, Insulin-resistant diabetes mellitus, Long penis, Fas...	ORPHA:769
Congenital Muscular Dystrophy Due To Lmna Mutation	Congestive heart failure, Arrhythmia, Cachexia	ORPHA:157973
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Tachycardia, Neutrophilia, Eosinophilia, Splenomegaly,...	ORPHA:98849
Eosinophilic Fasciitis	Abnormal eosinophil morphology, Eosinophilia, Edema, Weight loss, Muscular edema	ORPHA:3165
Cushing Disease	Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c...	ORPHA:96253
Hereditary Central Diabetes Insipidus	Diabetes insipidus, Weight loss	ORPHA:30925
Fibrous Dysplasia Of Bone	Hyperthyroidism, Precocious puberty in females, Hypercalcemia, Elevated circulating growth hormon...	ORPHA:249
Bone Dysplasia, Lethal Holmgren Type	Hypertrophic cardiomyopathy, Failure to thrive, Anemia, Weight loss	ORPHA:1842
Allergic Bronchopulmonary Aspergillosis	Pulmonary arterial hypertension, Abnormal eosinophil morphology, Weight loss	ORPHA:1164
Riboflavin Transporter Deficiency	Cachexia, Hypertension, Hypogonadism, Diabetes insipidus	ORPHA:97229
Goodpasture Syndrome	Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Increased blood urea nitrogen,...	OMIM:233450
Brucellosis	Pericarditis, Small for gestational age, Glomerulonephritis, Elevated circulating C-reactive prot...	ORPHA:1304
Hyperekplexia 2	Exaggerated startle response	OMIM:614619
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response	OMIM:618201
Budd-Chiari Syndrome	Elevated hepatic transaminase, Acute hepatic failure, Gastrointestinal hemorrhage, Portal hyperte...	ORPHA:131
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet...	OMIM:608643
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Juvenile Polyposis Syndrome	Hematochezia, Hypokalemia, Hypoalbuminemia, Failure to thrive, Anemia	OMIM:174900
Cushing Syndrome Due To Ectopic Acth Secretion	Adrenal hyperplasia, Myocardial infarction, Pituitary corticotropic cell adenoma, Neoplasm of the...	ORPHA:99889
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Felty Syndrome	Recurrent urinary tract infections, Pericarditis, Thrombocytopenia, Splenomegaly, Weight loss, Ne...	ORPHA:47612
Oculopharyngodistal Myopathy	Weight loss	ORPHA:98897
Huntington Disease-Like 2	Weight loss	OMIM:606438
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Medullary Thyroid Carcinoma	Primary hyperparathyroidism, Weight loss, Hyperhidrosis, Pheochromocytoma, Elevated circulating c...	ORPHA:1332
Fatal Familial Insomnia	Hyperhidrosis, Urinary retention, Weight loss	OMIM:600072
Flynn-Aird Syndrome	Abnormality of the thyroid gland, Primary adrenal insufficiency, Type II diabetes mellitus, Cachexia	ORPHA:2047
Hirschsprung Disease	Neoplasm of the thyroid gland, Failure to thrive in infancy, Weight loss	ORPHA:388
Mulibrey Nanism	Cachexia	ORPHA:2576
Benign Recurrent Intrahepatic Cholestasis	Elevated hepatic transaminase, Jaundice, Pancreatitis, Weight loss	ORPHA:65682
Autoimmune Pulmonary Alveolar Proteinosis	Abnormal circulating protein concentration, Increased circulating lactate dehydrogenase concentra...	ORPHA:747
Pyomyositis	Leukocytosis, Renal insufficiency, Sudden cardiac death, Weight loss	ORPHA:764
Hyperekplexia 3	Exaggerated startle response	OMIM:614618
Mast Cell Sarcoma	Mastocytosis, Splenomegaly, Weight loss	ORPHA:66661
Juvenile Huntington Disease	Weight loss	ORPHA:248111
Polycythemia Vera	Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hypertension, Pulmonary embolism,...	ORPHA:729
Stiff Person Spectrum Disorder	Exaggerated startle response	ORPHA:3198
Netherton Syndrome	Hypernatremic dehydration, Angioedema, Failure to thrive, Hypereosinophilia	OMIM:256500
Desmoplastic Small Round Cell Tumor	Anemia, Ascites, Cachexia, Weight loss	ORPHA:83469
Pseudomyxoma Peritonei	Ascites, Weight loss	ORPHA:26790
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Weight loss, Hematuria, Neph...	ORPHA:1018
Lymphoid Interstitial Pneumonia	Raynaud phenomenon, Weight loss, Pulmonary venous hypertension, Failure to thrive, Enlarged kidney	ORPHA:79128
Kaposi Sarcoma	Lymphedema, Abnormality of the spleen, Weight loss	ORPHA:33276
Gm2 Gangliosidosis, Ab Variant	Exaggerated startle response, Dystonia	ORPHA:309246
Liposarcoma	Abnormality of the kidney, Weight loss	ORPHA:69078
Cronkhite-Canada Syndrome	Anemia, Splenomegaly, Cachexia, Lymphedema	ORPHA:2930
Perry Syndrome	Hypotension, Weight loss	ORPHA:178509
Familial Colorectal Cancer Type X	Gastrointestinal hemorrhage, Renal neoplasm, Abnormal circulating creatine concentration, Pituita...	ORPHA:440437
Silver-Russell Syndrome	Hypospadias, Failure to thrive in infancy, Cachexia, Precocious puberty, Obesity, Hyperhidrosis, ...	ORPHA:813
Kikuchi-Fujimoto Disease	Elevated hepatic transaminase, Palpebral edema, Elevated circulating C-reactive protein concentra...	ORPHA:50918
Gm1 Gangliosidosis	Splenomegaly, Congestive heart failure, Hydrops fetalis, Hepatosplenomegaly, Weight loss, Cardiom...	ORPHA:354
Bullous Pemphigoid	Diabetes mellitus, Weight loss	ORPHA:703
Malignant Peritoneal Mesothelioma	Ascites, Pedal edema, Weight loss	ORPHA:168811
Pfapa Syndrome	Splenomegaly, Weight loss	ORPHA:42642
Alexander Disease Type I	Failure to thrive, Cachexia	ORPHA:363717
Classic Hodgkin Lymphoma	Hyperhidrosis, Splenomegaly, Weight loss	ORPHA:391
Pneumocystosis	Abnormal neutrophil count, Pleural effusion, Increased circulating lactate dehydrogenase concentr...	ORPHA:723
Familial Thrombocytosis	Acute myeloid leukemia, Transient ischemic attack, Splenomegaly, Chronic myelogenous leukemia, We...	ORPHA:71493
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Telangiectasia of the skin, Myocardial infarction, Weight loss, Isch...	ORPHA:679
Mcdonough Syndrome	Cachexia	ORPHA:2471
Neuropathy, Congenital Hypomyelinating, 3	Neonatal death, Polyhydramnios, Cachexia	OMIM:618186
Andersen Cardiodysrhythmic Periodic Paralysis	Prolonged QT interval, Hyperthyroidism, Bidirectional ventricular ectopy, Hypokalemia, Syncope, P...	OMIM:170390
Behçet Disease	Aortic regurgitation, Glomerulopathy, Renal insufficiency, Gastrointestinal hemorrhage, Pericardi...	ORPHA:117
Paternal Uniparental Disomy Of Chromosome 6	Precocious puberty, Neonatal insulin-dependent diabetes mellitus, Dehydration, Oligohydramnios	ORPHA:96191
Riddle Syndrome	Conjunctival telangiectasia, Elevated circulating alpha-fetoprotein concentration, Intraventricul...	ORPHA:420741
Inflammatory Bowel Disease 11	Hematochezia, Weight loss	OMIM:191390
Anaplastic Thyroid Carcinoma	Nodular goiter, Weight loss, Anaplastic thyroid carcinoma, Goiter	ORPHA:142
Hyperekplexia 1	Exaggerated startle response	OMIM:149400
Fanconi Anemia	Pyridoxine-responsive sideroblastic anemia, Recurrent urinary tract infections, Hydroureter, Hypo...	ORPHA:84
Huntington Disease-Like 1	Weight loss	ORPHA:157941
Stiff-Person Syndrome	Exaggerated startle response, Opisthotonus	OMIM:184850
Pulmonary Non-Tuberculous Mycobacterial Infection	Pericardial effusion, Pleural effusion, Weight loss	ORPHA:411703
Christianson Syndrome	Cachexia	ORPHA:85278
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Failure to thrive in infancy, Cachexia	OMIM:616801
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Exaggerated startle response	OMIM:609541
8P23.1 Microdeletion Syndrome	Hypertrophic cardiomyopathy, Hypospadias, Obesity, Weight loss	ORPHA:251071
Hermansky-Pudlak Syndrome	Gastrointestinal hemorrhage, Renal insufficiency, Epistaxis, Weight loss, Cardiomyopathy, Neutrop...	ORPHA:79430
Tay-Sachs Disease	Exaggerated startle response	OMIM:272800
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response	OMIM:618598
Gallbladder Neuroendocrine Tumor	Intermittent jaundice, Weight loss, Elevated gamma-glutamyltransferase level, Elevated alkaline p...	ORPHA:100086
X-Linked Creatine Transporter Deficiency	Abnormal circulating creatine concentration, Cachexia	ORPHA:52503
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Exaggerated startle response	ORPHA:320406
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Tremor, Exaggerated startle response, Truncal titubation	OMIM:618056
Neuroendocrine Neoplasm Of Appendix	Elevated hepatic transaminase, Tricuspid stenosis, Heart murmur, Adrenocorticotropic hormone exce...	ORPHA:100079
X-Linked Intellectual Disability, Cabezas Type	Hypoplasia of penis, Cachexia, Obesity, Hyperhidrosis, Hypogonadism	ORPHA:85293
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Exaggerated startle response	OMIM:620114
Idiopathic Bronchiectasis	Myocardial infarction, Cachexia	ORPHA:60033
Schwartz-Jampel Syndrome	Elevated circulating creatine kinase concentration, Cachexia, Polyhydramnios, Abnormality of the ...	ORPHA:800
19Q13.11 Microdeletion Syndrome	Failure to thrive, Hypospadias, Cachexia	ORPHA:217346
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Hyperthyroidism, Small for gestational age, Thyrotoxicosis with diffuse goiter, Activating thyroi...	ORPHA:424
Juvenile Polyposis Of Infancy	Refractory anemia, Gastrointestinal hemorrhage, Cachexia, Hematochezia, Melena, Intestinal bleedi...	ORPHA:79076
Cap Polyposis	Hematochezia, Weight loss	ORPHA:160148
Chronic Beryllium Disease	Abnormal proportion of CD4-positive T cells, Weight loss	ORPHA:133
Cockayne Syndrome	Elevated hepatic transaminase, Anhidrosis, Neurogenic bladder, Renal insufficiency, Proteinuria, ...	ORPHA:191
Inflammatory Bowel Disease (Crohn Disease) 1	Weight loss	OMIM:266600
African Trypanosomiasis	Abnormal EKG, Renal insufficiency, Pericarditis, Urinary incontinence, Abnormality of the endocri...	ORPHA:3385
Pancreatoblastoma	Jaundice, Elevated maternal serum alpha-fetoprotein, Weight loss	ORPHA:677
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Dystonia	OMIM:272750
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Elevated circulating C-reactive protein concentration, Weight loss, Iron deficiency anemia, Lymph...	OMIM:301074
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Tremor, Exaggerated startle response	OMIM:620327
Hereditary Late-Onset Parkinson Disease	Spastic/hyperactive bladder, Orthostatic hypotension due to autonomic dysfunction, Weight loss	ORPHA:411602
Acquired Hypertrichosis Lanuginosa	Weight loss	ORPHA:2221
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Elevated circulating deoxyuridine concentration, Cachexia, Weight loss, Elevated circulating thym...	OMIM:603041
Pelizaeus-Merzbacher Disease	Abnormality of the urinary system, Failure to thrive in infancy, Cachexia	ORPHA:702
Leukodystrophy, Hypomyelinating, 13	Exaggerated startle response	OMIM:616881
Tetrasomy 12P	Cachexia, Hypohidrosis	ORPHA:884
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response	OMIM:608800
Sandhoff Disease, Infantile Form	Exaggerated startle response	ORPHA:309155
Camurati-Engelmann Disease	Cachexia, Splenomegaly, Leukopenia, Hypogonadism, Urinary retention, Delayed puberty, Hypertrophi...	ORPHA:1328
Juvenile Amyotrophic Lateral Sclerosis	Urinary incontinence, Cachexia	ORPHA:300605
Short Syndrome	Diabetes mellitus, Weight loss	ORPHA:3163
Familial Pancreatic Carcinoma	Elevated hepatic transaminase, Diabetes mellitus, Jaundice, Hepatosplenomegaly, Weight loss, Exoc...	ORPHA:1333
Nodular Non-Suppurative Panniculitis	Splenomegaly, Edema, Weight loss	ORPHA:33577
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Mitral regurgitation, Dilated cardiomyopathy, Mildly elevated creatine kinase, Weight loss	OMIM:607459
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss	ORPHA:312
Familial Gestational Hyperthyroidism	Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep...	ORPHA:99819
Igg4-Related Dacryoadenitis And Sialadenitis	Palpebral edema, Facial edema, Xerostomia, Thyroiditis, Weight loss, Tubulointerstitial nephritis...	ORPHA:79078
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Severe failure to thrive, Cachexia	ORPHA:371364
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Cachexia	ORPHA:1389
Bannayan-Riley-Ruvalcaba Syndrome	Neoplasm of the adrenal cortex, Angina pectoris, Cachexia, Lymphedema, Telangiectasia, Intracrani...	ORPHA:109
Oculopharyngodistal Myopathy 1	Paroxysmal atrial fibrillation, Elevated circulating creatine kinase concentration, Dilated cardi...	OMIM:164310
Infantile Krabbe Disease	Abnormal heart rate variability, Abnormal circulating enzyme concentration or activity, Failure t...	ORPHA:206436
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Diabetes...	OMIM:614162
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Exaggerated startle response, Dystonia	ORPHA:438216
Classic Pantothenate Kinase-Associated Neurodegeneration	Weight loss	ORPHA:216866
Glossopharyngeal Neuralgia	Syncope, Jaw claudication, Bradycardia, Weight loss	ORPHA:221098
Sarcoidosis, Susceptibility To, 1	Pancytopenia, Pericardial effusion, Splenomegaly, Hypercalciuria, Weight loss, Pulmonary arterial...	OMIM:181000
Tropical Pancreatitis	Maternal diabetes, Insulin-dependent but ketosis-resistant diabetes, Jaundice, Weight loss, Chron...	ORPHA:103918
Peritoneal Cystic Mesothelioma	Weight loss	ORPHA:168816
Chronic Graft Versus Host Disease	Elevated hepatic transaminase, Pancytopenia, Phimosis, Urinary bladder inflammation, Xerostomia, ...	ORPHA:99921
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Exaggerated startle response	OMIM:617864
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Weight loss	ORPHA:79127
Dermatomyositis	Pericarditis, Abnormal eosinophil morphology, Telangiectasia of the skin, Myocardial infarction, ...	ORPHA:221
Lynch Syndrome	Gastrointestinal hemorrhage, Pituitary adenoma, Neoplasm of the thyroid gland, Weight loss	ORPHA:144
Mucolipidosis Type Ii	Aortic regurgitation, Abnormal atrioventricular valve physiology, Splenomegaly, Hepatosplenomegal...	ORPHA:576
Carney-Stratakis Syndrome	Gastrointestinal hemorrhage, Paraganglioma, Weight loss	ORPHA:97286
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Hepatosplenomegaly, Hemophagocytosis, Weight loss	ORPHA:86884
Trisomy 18	Cachexia, Hydronephrosis, Abnormality of the upper urinary tract, Oligohydramnios	ORPHA:3380
Pancreatic Triacylglycerol Lipase Deficiency	Edema, Weight loss, Iron deficiency anemia, Steatorrhea, Exocrine pancreatic insufficiency	ORPHA:309031
Parkinson Disease 4, Autosomal Dominant	Orthostatic hypotension, Weight loss	OMIM:605543
Laryngotracheoesophageal Cleft Type 4	Abnormality of the spleen, Cachexia	ORPHA:93941
Tay-Sachs Disease	Tremor, Exaggerated startle response, Laryngeal dystonia, Dystonia	ORPHA:845
Perry Syndrome	Weight loss	OMIM:168605
Granulomatosis With Polyangiitis	Diffuse alveolar hemorrhage, Retinal hemorrhage, Localized pulmonary hemorrhage, Weight loss, Gra...	OMIM:608710
Rett Syndrome	Abnormal T-wave, Prolonged QTc interval, Cachexia	OMIM:312750
Reactive Arthritis	Aortic regurgitation, Recurrent urinary tract infections, Pericarditis, Weight loss, Joint swelling	ORPHA:29207
Glycine Encephalopathy With Normal Serum Glycine	Exaggerated startle response	OMIM:617301
Malt Lymphoma	Abnormality of the thyroid gland, Hyperhidrosis, Anemia, Weight loss	ORPHA:52417
Sandhoff Disease	Exaggerated startle response	OMIM:268800
Nijmegen Breakage Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Cachexia, Acute leukemia, Pollakisuria, Thrombocyt...	ORPHA:647
Oromandibular Dystonia	Weight loss	ORPHA:93958
Choreoacanthocytosis	Elevated circulating creatine kinase concentration, Elevated circulating aspartate aminotransfera...	ORPHA:2388
Hutchinson-Gilford Progeria Syndrome	Aortic regurgitation, Female hypogonadism, Mitral stenosis, Decreased serum leptin, Angina pector...	ORPHA:740
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response	OMIM:617281
Rat-Bite Fever	Pericarditis, Myocarditis, Weight loss, Anemia, Pancreatitis, Parotitis	ORPHA:31205
Plaa-Associated Neurodevelopmental Disorder	Exaggerated startle response, Dystonia	ORPHA:521426
Gm1 Gangliosidosis Type 1	Exaggerated startle response, Dystonia	ORPHA:79255
Asparagine Synthetase Deficiency	Tremor, Exaggerated startle response	OMIM:615574
Pemphigus Vulgaris	Weight loss	ORPHA:704
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Exaggerated startle response	OMIM:253800
Carney Complex	Euthyroid multinodular goiter, Follicular thyroid carcinoma, Elevated circulating growth hormone ...	ORPHA:1359
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Hepatosplenomegaly, Joint swelling, Anemia, Weight loss	ORPHA:85408
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response	OMIM:617527
Klatskin Tumor	Jaundice, Weight loss	ORPHA:99978
Acrodermatitis Enteropathica	Failure to thrive, Weight loss	ORPHA:37
Oculogastrointestinal Muscular Dystrophy	Cachexia	ORPHA:1876
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Spontaneous, recurrent epistaxis, Pancytopenia, Cachexia, Abnormality of the spleen, Thrombocytop...	ORPHA:2072
Gerstmann-Straussler Disease	Weight loss	OMIM:137440
Fryns-Smeets-Thiry Syndrome	Cachexia	ORPHA:2058
Nocardiosis	Pericarditis, Thyroiditis, Weight loss, Abnormality of the adrenal glands, Pleural effusion	ORPHA:31204
Proteus Syndrome	Thymus hyperplasia, Cachexia, Lymphedema, Neoplasm of the thymus, Splenomegaly, Sudden cardiac de...	ORPHA:744
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Cachexia, Steatorrhea	ORPHA:3217
Congenital Fiber-Type Disproportion Myopathy	Failure to thrive, Polyhydramnios, Weight loss	ORPHA:2020
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Abnormality of the thyroid gland, Cachexia	ORPHA:1969
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Exaggerated startle response	OMIM:618367
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Cachexia	ORPHA:220295
Vascular Ehlers-Danlos Syndrome	Hypospadias, Telangiectasia of the skin, Transient ischemic attack, Cystocele, Renovascular hyper...	ORPHA:286
Seckel Syndrome	Cachexia	ORPHA:808
Marfan Syndrome	Congestive heart failure, Slender build, Cachexia	ORPHA:558
Stickler Syndrome	Arrhythmia, Slender build, Cachexia	ORPHA:828
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Exaggerated startle response, Dystonia	ORPHA:438213
Norrie Disease	Failure to thrive, Diabetes mellitus, Cachexia, Delayed puberty	ORPHA:649
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Exaggerated startle response	OMIM:619522

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Nr3c2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Nr3c2.

No publications found that use IMPC mice or data for Nr3c2.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Nr3c2^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Nr3c2^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Nr3c2^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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