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Gene: Stk39 MGI:1858416

Gene Summary

Name:

serine/threonine kinase 39

Synonyms:

Rnl5, RF005, DCHT, SPAK

Order Alleles

IMPC Data Collections

Body Weight Measurements
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
increased bone mineral density	Stk39^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	3.06×10^-05
decreased mean corpuscular volume	Stk39^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	2.38×10^-09
thrombocytosis	Stk39^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	6.02×10^-05
decreased circulating chloride level	Stk39^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	4.33×10^-06
increased circulating calcium level	Stk39^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	6.14×10^-07
decreased body weight	Stk39^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	4.03×10^-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.

Legacy Phenotype Associated Images

Stk39^{tm1a(EUCOMM)Wtsi}
HOM, Female, WTSI

Stk39^{tm1a(EUCOMM)Wtsi}
body, HOM, Female, WTSI

View all 67 images

Stk39^{tm1a(EUCOMM)Wtsi}
back skin, HOM, Female, WTSI

Human diseases caused by Stk39 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 Stk39 (0 diseases)
Human diseases predicted to be associated with Stk39 (1111 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Stk39 by phenotypic similarity.

Disease	Matching phenotypes	Source
Proteinuria, Chronic Benign	Albuminuria, Renal insufficiency, Proteinuria	OMIM:618884
Uridine-Cytidineuria	Elevated urinary uridine level, Elevated urinary cytidine	OMIM:618477
Sedoheptulokinase Deficiency	Increased urinary sedoheptulose	OMIM:617213
Hypertension, Essential	Elevated mean arterial pressure, Elevated systolic blood pressure, Elevated diastolic blood pressure	OMIM:145500
Hypomagnesemia 2, Renal	Renal insufficiency, Renal magnesium wasting, Hypokalemia, Hypocalciuria, Hypomagnesemia	OMIM:154020
Pentosuria	Abnormality of urine homeostasis	OMIM:260800
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome	Episodic hypokalemia, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, Renal potassium ...	ORPHA:564178
Lipoprotein Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity	OMIM:611771
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Elevated left ventricular end-diastolic diameter, Polyuria, Dilated cardiomyopathy,...	OMIM:620152
Bartter Syndrome, Type 3	Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,...	OMIM:607364
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyponatremia, Renal salt wasting, Hyperkalemia, Hyperactive renin-angiotensin system, Hyperaldost...	OMIM:264350
Hyperaldosteronism, Familial, Type Ii	Hypertension, Hypokalemia, Hyperaldosteronism	OMIM:605635
Liddle Syndrome	Renal insufficiency, Hypertension, Hypokalemia, Cerebral ischemia, Nephropathy, Arrhythmia	ORPHA:526
Nephrotic Syndrome, Type 16	Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis	OMIM:617783
Hypocalciuric Hypercalcemia, Familial, Type I	Hyperparathyroidism, Hypercalcemia, Hypermagnesemia, Nephrolithiasis, Hypercalciuria, Hypocalciur...	OMIM:145980
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Parathyroid agenesis, Hypercalciuria, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Congenital...	ORPHA:2239
Nephrotic Syndrome, Type 18	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch...	OMIM:618177
Nephrotic Syndrome, Type 19	Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan...	OMIM:618178
Nephrotic Syndrome, Type 20	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch...	OMIM:301028
Hypocalcemia, Autosomal Dominant 1	Decreased circulating parathyroid hormone level, Nephrolithiasis, Hypercalciuria, Nephrocalcinosi...	OMIM:601198
Idiopathic Hypercalciuria	Parathormone-independent increased renal tubular calcium reabsorption, Calcium oxalate nephrolith...	ORPHA:2197
Focal Segmental Glomerulosclerosis 8	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:616032
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Polyuria, Renal magnesium wasting, Nephrocalcinosis, Hypokalemia, Hypomagnesemia, Renal potassium...	OMIM:618314
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Hypomagnesemia 4, Renal	Hypomagnesemia	OMIM:611718
Hyperaldosteronism, Familial, Type Iii	Adrenal hyperplasia, Polyuria, Hypercalciuria, Hypertension, Hypokalemia, Hyperaldosteronism, Dec...	OMIM:613677
Hypomagnesemia 6, Renal	Impaired renal tubular reabsorption of magnesium, Hypomagnesemia	OMIM:613882
Hyperprolinemia Type 1	Nephropathy, Proteinuria, Prolinuria	ORPHA:419
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypercalcemia, Parathormone-independent increased renal tubular calcium reabsorption, Primary hyp...	OMIM:145981
Hematuria, Benign Familial, 2	Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology	OMIM:620320
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Recurrent urinary tract infections, Renal magnesium wasting, Chronic kidney disease, Stage 5 chro...	OMIM:248190
Hypomagnesemia 3, Renal	Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki...	OMIM:248250
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Polyuria, Renal salt wasting, Enuresis, Hypokalemia, Hypertension, Increased circulating renin le...	OMIM:612780
Hypokalemic Tubulopathy And Deafness	Hyperaldosteronism, Increased circulating renin level, Renal salt wasting	OMIM:619406
Immunodeficiency 69	Pancytopenia, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis, Hepatospl...	OMIM:618963
East Syndrome	Renal salt wasting, Renal magnesium wasting, Enuresis, Hypokalemia, Hyperaldosteronism, Increased...	ORPHA:199343
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level, Hypotension	OMIM:620125
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Sudden cardiac death, Abnormal renal tubular resorption, Congestive heart failure, Dilated cardio...	ORPHA:73224
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone level, I...	ORPHA:556037
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Glycos...	OMIM:308990
Corticosteroid-Binding Globulin Deficiency	Decreased circulating cortisol level, Decreased urinary potassium, Hypertension, Hypokalemia, Hyp...	OMIM:611489
Focal Segmental Glomerulosclerosis 7	Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis...	OMIM:616002
Hypercalcemia, Infantile, 2	Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Hypophosphate...	OMIM:616963
Hyperaldosteronism, Familial, Type I	Adrenal hyperplasia, Adrenogenital syndrome, Hypertension, Abnormality of the urinary system, Hyp...	OMIM:103900
Corticosterone Methyloxidase Type I Deficiency	Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulating renin level, Hypotension, D...	OMIM:203400
Sinoatrial Node Dysfunction And Deafness	Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia	OMIM:614896
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone level, I...	ORPHA:556030
Glomerulopathy With Fibronectin Deposits 2	Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di...	OMIM:601894
Liddle Syndrome 2	Metabolic alkalosis, Hypokalemia, Decreased circulating renin level	OMIM:618114
Liddle Syndrome 3	Metabolic alkalosis, Hypokalemia, Decreased circulating renin level	OMIM:618126
Familial Hyperaldosteronism Type Iii	Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperal...	ORPHA:251274
Adrenocortical Carcinoma	Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ...	ORPHA:1501
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete	Adrenocorticotropic hormone excess, Adrenal insufficiency, Hyperaldosteronism, Renal salt wasting	OMIM:613743
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Hyperamylasemia, Bicarbonate-wasting renal tubular acidosis, Proximal renal tubular acidosis, Met...	OMIM:604278
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Renal salt wasting, Increased urin...	OMIM:613090
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyponatremia, Hyperkalemia, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased c...	OMIM:177735
Nephrotic Syndrome, Type 17	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema...	OMIM:618176
Focal Segmental Glomerulosclerosis 10	Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea...	OMIM:256020
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldosteronism, Ne...	ORPHA:231625
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Hypercalcemia, Parathormone-independent increased renal tubular calcium reab...	OMIM:600740
Gitelman Syndrome	Prolonged QT interval, Polyuria, Renal magnesium wasting, Ventricular tachycardia, Enuresis, Hypo...	OMIM:263800
Helix Syndrome	Anhidrosis, Renal insufficiency, Hyperparathyroidism, Polyuria, Hypermagnesemia, Nephrolithiasis,...	OMIM:617671
Autosomal Dominant Hypocalcemia	Congestive heart failure, Hypercalciuria, Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypo...	ORPHA:428
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities	Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:614199
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Hypokalemic alkalosis, Increased serum prostaglandin E2, Hypokalemia, Increased circulating renin...	OMIM:241150
Iga Nephropathy, Susceptibility To, 3	Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, IgA depositio...	OMIM:616818
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1	Hypomagnesemia	OMIM:616418
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog...	OMIM:616689
Adamantinoma	Pathologic fracture, Hypercalcemia	ORPHA:55881
Nephrotic Syndrome, Type 23	Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome...	OMIM:619201
Liddle Syndrome 1	Renal insufficiency, Hypokalemia, Hypertension, Decreased circulating renin level	OMIM:177200
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormality of the spleen, L...	ORPHA:232
Familial Hypocalciuric Hypercalcemia	Hypomagnesiuria, Renal hypophosphatemia, Hypercalcemia, Parathormone-independent increased renal ...	ORPHA:405
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:609820
Focal Segmental Glomerulosclerosis 5	Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di...	OMIM:613237
Focal Segmental Glomerulosclerosis 2	Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl...	OMIM:603965
Hypokalemic Periodic Paralysis, Type 2	Hypokalemia	OMIM:613345
Nail-Patella-Like Renal Disease	Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria	ORPHA:2613
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria	OMIM:607832
Primary Unilateral Adrenal Hyperplasia	Adrenal hyperplasia, Epistaxis, Increased urinary potassium, Glucocortocoid-insensitive primary h...	ORPHA:231580
Nephrotic Syndrome, Type 15	Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change...	OMIM:617609
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Glomerulopathy With Fibronectin Deposits 1	Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru...	OMIM:137950
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Hypomagnesemia, Chron...	OMIM:613845
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Hyperparathyroidism, Increased serum prostaglandin E2, Hypercalcemia, Polyuria,...	OMIM:601678
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Metabolic acidosis, Decreased mean corpusc...	OMIM:611590
Familial Hyperaldosteronism Type Ii	Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal c...	ORPHA:404
Iga Nephropathy, Susceptibility To, 2	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus	OMIM:613944
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Nephrocalcinosis, Distal renal tubular acidosis, Hypokalemia, Hypercalciuria	OMIM:602722
Colchicine Poisoning	Hyponatremia, Renal insufficiency, Congestive heart failure, Myocarditis, Hypovolemia, Abnormal b...	ORPHA:31824
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
Bartter Syndrome, Type 5, Antenatal, Transient	Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l...	OMIM:300971
Paroxysmal Nocturnal Hemoglobinuria 1	Paroxysmal nocturnal hemoglobinuria	OMIM:300818
Corticosterone Methyloxidase Type Ii Deficiency	Hyponatremia, Orthostatic hypotension, Increased circulating corticosterone level, Renal salt was...	OMIM:610600
Fanconi Renotubular Syndrome 1	Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica...	OMIM:134600
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Bone cyst, Hypercalcemia, Anemia	ORPHA:2668
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Pancytopenia, Elevated circulating C-reactive protein concentration, Microcytic anemia, Elbow fle...	OMIM:604416
Erythrocytosis, Familial, 5	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617907
Thrombocythemia 2	Thrombocytosis	OMIM:601977
Renal Tubular Acidosis, Distal, 1	Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N...	OMIM:179800
Renal Failure, Progressive, With Hypertension	Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Microscopic hematuria, Nephritis	OMIM:161900
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Romano-Ward Syndrome	Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Torsade de pointes, Abnormal T-wav...	ORPHA:101016
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level	OMIM:620126
Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Decreased urinary potassium, Renal salt wasting, Hyperkale...	ORPHA:427
Asplenia, Isolated Congenital	Asplenia, Thrombocytosis, Howell-Jolly bodies	OMIM:271400
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Hyperphosphaturia, Hypercalciuria, Nephrolithiasis, Renal phosphate wasting, Hypophosphatemia	OMIM:612286
Familial Hyperaldosteronism Type I	Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Intracranial hemorrhage, Hypertension...	ORPHA:403
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hyperparathyroidism, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Renal tubular acidosis	OMIM:239199
Malignant Hyperthermia, Susceptibility To, 1	Tachycardia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia,...	OMIM:145600
Familial Isolated Hyperparathyroidism	Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Primary hyperparathyroidism, Hypercalciuri...	ORPHA:99879
Thrombocythemia 3	Thrombocytosis	OMIM:614521
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia	OMIM:611938
Atrial Fibrillation, Familial, 18	Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio...	OMIM:617280
Diarrhea 1, Secretory Chloride, Congenital	Hyponatremia, Metabolic alkalosis, Elevated serum bicarbonate concentration, Alkalosis, Hypochlor...	OMIM:214700
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Erythrocytosis, Familial, 4	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:611783
Myoglobinuria, Recurrent	Recurrent myoglobinuria, Exercise-induced myoglobinuria	OMIM:550500
Dent Disease 2	Elevated circulating creatine kinase concentration, Chronic kidney disease, Hypercalciuria, Nephr...	OMIM:300555
Epilepsy, Idiopathic Generalized, Susceptibility To, 18	Bradycardia	OMIM:619521
Bartter Syndrome Type 4	Hyponatremia, Renal salt wasting, Increased urinary potassium, Impaired renal concentrating abili...	ORPHA:89938
Thrombocythemia 1	Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre...	OMIM:187950
Medullary Sponge Kidney	Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria	ORPHA:1309
Hypercalcemia, Infantile, 1	Polyuria, Hypercalcemia, Decreased circulating parathyroid hormone level, Nephrolithiasis, Hyperc...	OMIM:143880
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
His Bundle Tachycardia	Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart	ORPHA:3283
Hypercalciuria, Absorptive, 2	Hypercalciuria, Calcium oxalate nephrolithiasis	OMIM:143870
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Adrenal hyperplasia, Epistaxis, Nephrolithiasis, Abnormal circulating renin, Intracranial hemorrh...	ORPHA:369929
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Ventricular hypertrophy, Increased urine succinate level, Congestive heart failure, Decreased pla...	OMIM:619048
Hyperparathyroidism 4	Osteopenia, Hypercalcemia	OMIM:617343
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s...	OMIM:602522
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P...	OMIM:310468
Osteosclerotic Metaphyseal Dysplasia	Increased bone mineral density, Failure to thrive, Clavicular sclerosis	OMIM:615198
Atrial Standstill	Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa...	ORPHA:1344
Hypophosphatemic Rickets, Autosomal Recessive, 1	Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric...	OMIM:241520
Ectopic Aldosterone-Producing Tumor	Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Hypertension, Hypokalemia, Adre...	ORPHA:231632
Chronic Atrial And Intestinal Dysrhythmia	Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria...	OMIM:616201
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Apparent Mineralocorticoid Excess	Metabolic alkalosis, Hypokalemia, Decreased circulating renin level	OMIM:218030
Focal Segmental Glomerulosclerosis 6	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr...	OMIM:614131
Combined Oxidative Phosphorylation Deficiency 34	Pancytopenia, Increased serum lactate, Elevated circulating creatinine concentration, Lactic acid...	OMIM:617872
Distal Renal Tubular Acidosis	Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,...	ORPHA:18
Blue Diaper Syndrome	Abnormal circulating tryptophan concentration, Hypercalcemia	OMIM:211000
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Renal salt wasting, Increased urina...	OMIM:241200
Renal Tubular Acidosis Iii	Nephrocalcinosis, Hypokalemia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis	OMIM:267200
Long Qt Syndrome 15	Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard...	OMIM:616249
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom...	ORPHA:75564
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia, Hypocalcemia	DECIPHER:16
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Hepatosplenomegaly, Weight loss, Salmonella osteomyelitis, Hypoalbumi...	OMIM:209950
Hypophosphatasia	Failure to thrive in infancy, Hypercalcemia, Recurrent fractures, Craniosynostosis, Anemia	ORPHA:436
Apparent Mineralocorticoid Excess	Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Hypertension, Hypokal...	ORPHA:320
Progressive Familial Intrahepatic Cholestasis	Abnormality of thrombocytes, Splenomegaly, Reduced bone mineral density, Hypocalcemia, Failure to...	ORPHA:172
Intermediate Osteopetrosis	Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Thrombocytope...	ORPHA:210110
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Thrombocytosis, Anemia of inadequate production, Megaloblastic a...	OMIM:617780
Orthostatic Hypotension 1	Orthostatic hypotension, Atrial fibrillation, Increased blood urea nitrogen, Hypomagnesemia, Noct...	OMIM:223360
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Fanconi Renotubular Syndrome 2	Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast...	OMIM:613388
Hypouricemia, Hypercalcinuria, And Decreased Bone Density	Hypouricemia, Hypercalciuria	OMIM:242050
Congenital Isolated Acth Deficiency	Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Hyperkalemia, Adrenocorti...	ORPHA:199296
Cardiomyopathy, Dilated, 1D	Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Incr...	OMIM:601494
Orthostatic Hypotensive Disorder, Streeten Type	Orthostatic hypotension, Syncope	OMIM:143850
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro...	ORPHA:86841
Neuroleptic Malignant Syndrome	Hyponatremia, Tachycardia, Proteinuria, Elevated circulating creatine kinase concentration, Urina...	ORPHA:94093
Lipoyltransferase 1 Deficiency	Hyperglutaminemia, Lacticaciduria, Hyperprolinemia, Alaninuria, Bradycardia, Pulmonary arterial h...	OMIM:616299
Lipoid Congenital Adrenal Hyperplasia	Congenital adrenal hyperplasia, Hypospadias, Adrenogenital syndrome, Renal salt wasting	OMIM:201710
Imerslund-Grasbeck Syndrome 2	Proteinuria	OMIM:618882
Hyperchlorhidrosis, Isolated	Hyponatremia, Hyperkalemia	OMIM:143860
Osteopetrosis, Autosomal Recessive 9	Increased bone mineral density, Cortical sclerosis, Hyperkalemia, Elevated circulating creatinine...	OMIM:620366
Hemangioma-Thrombocytopenia Syndrome	Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:141000
Atrial Fibrillation, Familial, 10	Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Left atrial enlargement,...	OMIM:614022
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen	OMIM:620085
Diffuse Neonatal Hemangiomatosis	Thrombocytopenia, Hypercalcemia, Anemia	ORPHA:2123
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Hypokalemia, Tachycardia, Palpitations	OMIM:188580
Hypokalemic Periodic Paralysis, Type 1	Hypokalemia	OMIM:170400
Nephrotic Syndrome, Type 9	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Glomerular scler...	OMIM:615573
Carnitine-Acylcarnitine Translocase Deficiency	Ventricular hypertrophy, Dicarboxylic aciduria, Elevated circulating creatine kinase concentratio...	OMIM:212138
Long Qt Syndrome 16	T-wave alternans, Second degree atrioventricular block, Perimembranous ventricular septal defect,...	OMIM:618782
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Abnormal circulating aldosterone, Reduced blood urea nitrogen, Hypernatriuria, Elev...	OMIM:300539
Juvenile Arthritis	Thrombocytosis, Leukocytosis	OMIM:618795
Indolylacroyl Glycinuria With Mental Retardation	Hyperglycinuria	OMIM:243050
Iga Nephropathy, Susceptibility To, 1	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus	OMIM:161950
Atrial Septal Defect 6	Atrial septal defect, Atrial fibrillation, Bradycardia	OMIM:613087
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To	Respiratory alkalosis, Low plasma citrulline, Hyperammonemia, Episodic ammonia intoxication, Hypo...	OMIM:237300
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Hypospadias, Hypercalcemia, Decreased response to growth hormone stimulation test, Adrenal hypopl...	OMIM:614732
Thyrotoxic Periodic Paralysis	Prolonged QT interval, Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyroto...	ORPHA:79102
Gitelman Syndrome	Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Hyperhidrosis, Tubulointers...	ORPHA:358
Cardiomyopathy, Familial Restrictive, 3	Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation...	OMIM:612422
Iminoglycinuria	Hydroxyprolinuria, Hyperglycinuria, Prolinuria	OMIM:242600
Rhabdoid Tumor	Thrombocytopenia, Hypercalcemia, Anemia, Weight loss	ORPHA:69077
Tako-Tsubo Cardiomyopathy	Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection...	ORPHA:66529
Phosphohydroxylysinuria	Phosphohydroxylysinuria	OMIM:615011
Cystathioninuria	Cystathioninuria	OMIM:219500
Beta-Aminoisobutyric Aciduria	Beta-aminoisobutyric aciduria	OMIM:210100
Pseudohypoaldosteronism, Type Iia	Hypertension, Hyperkalemia	OMIM:145260
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Nephrolithiasis, Hypertension, Second degree atrioventricular block, Hypokalemia, Primary hyperal...	OMIM:615474
Hyperaldosteronism, Familial, Type Iv	Hypertension, Hyperaldosteronism	OMIM:617027
Primary Fanconi Renotubular Syndrome	Low-molecular-weight proteinuria, Hypouricemia, Increased urinary potassium, Chronic kidney disea...	ORPHA:3337
Hypocalcemia, Autosomal Dominant 2	Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
Enamel-Renal Syndrome	Increased circulating osteocalcin level, Renal insufficiency, Hypophosphaturia, Impaired renal co...	ORPHA:1031
Pyloric Stenosis, Infantile Hypertrophic, 1	Hypochloremic metabolic alkalosis	OMIM:179010
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha-fetoprotein c...	OMIM:613095
Sudden Cardiac Failure, Infantile	Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy...	OMIM:617222
Aapoaiv Amyloidosis	Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Proteinuria, Cardiac ...	ORPHA:439232
Phenylketonuria	Aminoaciduria	ORPHA:716
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia	Increased bone mineral density	OMIM:250500
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Myoglobinuria, Acute kidney injury, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:268200
Neurodevelopmental Disorder With Language Delay And Seizures	Hypothyroidism, Hypomagnesemia	OMIM:619908
Nephrotic Syndrome, Type 7	Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic...	OMIM:615008
Buschke-Ollendorff Syndrome	Osteopoikilosis, Flexion contracture, Joint stiffness	OMIM:166700
12q14 microdeletion syndrome	Osteopoikilosis	DECIPHER:76
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Decreased circulating cortisol level, Renal salt wasting, Precocious puberty, Hyper...	OMIM:614736
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Respiratory alkalosis, Increased serum lactate, Ketoacidosis, Hyperglutaminemia, Low plasma citru...	OMIM:615751
Myopathy, Myofibrillar, 1	Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restrictive cardiomyopa...	OMIM:601419
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Sick sinus syndrome, Bradycardia	OMIM:617173
Pseudohypoaldosteronism, Type Iic	Hyperkalemia, Metabolic acidosis, Decreased serum bicarbonate concentration, Hyperchloremia, Hype...	OMIM:614492
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Increased circulating osteocalcin level, Hyperphosphaturia, Decreased circulating parathyroid hor...	ORPHA:157215
Ghosal Hematodiaphyseal Dysplasia	Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Leukopenia, H...	OMIM:231095
Osteomesopyknosis	Increased bone mineral density	OMIM:166450
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Hyperparathyroidism 1	Hypercalcemia	OMIM:145000
Juvenile Nephropathic Cystinosis	Hyponatremia, Low-molecular-weight proteinuria, Renal insufficiency, Hypouricemia, Proteinuria, C...	ORPHA:411634
Familial Glucocorticoid Deficiency	Hyponatremia, Decreased circulating dehydroepiandrosterone concentration, Recurrent urinary tract...	ORPHA:361
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p...	ORPHA:3282
Pyknoachondrogenesis	Increased bone mineral density	OMIM:265880
Aa Amyloidosis	Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome, Renal amyloid...	ORPHA:85445
Nephrotic Syndrome, Type 2	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:600995
Hereditary Renal Hypouricemia	Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri...	ORPHA:94088
Pseudohypoaldosteronism, Type Iie	Metabolic acidosis, Hyperchloremia, Hyperchloremic metabolic acidosis, Hyperkalemia	OMIM:614496
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Hyponatremia, Decreased response to growth hormone stimulation test, Precocious puberty, Pituitar...	ORPHA:91354
Sick Sinus Syndrome 2	Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden...	OMIM:163800
Ossification Of The Posterior Longitudinal Ligament Of Spine	Ectopic ossification, Increased bone mineral density	OMIM:602475
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Sick sinus syndrome, Patent foramen ovale, Bradycardia	OMIM:617182
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat...	OMIM:616117
Primary Membranoproliferative Glomerulonephritis	Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot...	ORPHA:54370
Paroxysmal Extreme Pain Disorder	Tachycardia, Bradycardia	OMIM:167400
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Glucocortocoid-insensitive primary hyperaldosteronism, Hyperkalemia, Hypovolemic sh...	ORPHA:171876
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2	Medullary nephrocalcinosis, Hypercalciuria	OMIM:617993
Pseudohypoaldosteronism, Type Iib	Hyperchloremia, Hyperkalemia, Hypertension	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperchloremia, Hyperkalemia, Hypertension	OMIM:614495
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Bradycardia, Mildly elevated creatine kinase	OMIM:620265
Cardiomyopathy, Familial Hypertrophic, 6	Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail...	OMIM:600858
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Wild Type Attr Amyloidosis	Abnormal EKG, Renal insufficiency, Proteinuria, Myocardial infarction, Congestive heart failure, ...	ORPHA:330001
Familial Short Qt Syndrome	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope...	ORPHA:51083
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Coenzyme Q10 Deficiency, Primary, 7	Ventricular septal defect, Hypertrophic cardiomyopathy, Hypoplastic left heart, Bradycardia	OMIM:616276
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr...	ORPHA:189427
Timothy Syndrome	Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Ventricular tachycardia, Atrioven...	OMIM:601005
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Osteopenia, Hypercalcemia, Hyperphosphatemia, Calvarial osteosclerosis, Metacarpal periosteal thi...	OMIM:617994
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hematochezia, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:175500
Congenital Nephrotic Syndrome, Finnish Type	Nephrotic syndrome, Proteinuria, Abnormal renal tubule morphology	ORPHA:839
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Increased bone mineral density, Recurrent fractures, Splenomegaly, Anemia, Osteo...	OMIM:611490
Familial Pseudohyperkalemia	Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly...	ORPHA:90044
Analbuminemia	Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypoalbu...	OMIM:616000
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyponatremia, Decreased circulating cortisol level, Hypospadias, Renal salt wasting, Increased ci...	ORPHA:90791
Fanconi-Bickel Syndrome	Hyperphosphaturia, Ketonuria, Hypouricemia, Proteinuria, Hypercalciuria, Generalized aminoaciduri...	OMIM:227810
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Congenital Heart Block	First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur...	ORPHA:60041
Spastic Paraplegia-Nephritis-Deafness Syndrome	Nephropathy, Proteinuria	ORPHA:2820
Mercury Poisoning	Tachycardia, Hypertension, Hypokalemia, Hypotension, Acute kidney injury	ORPHA:330021
Atrial Standstill 2	Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Hy...	OMIM:615745
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Hypokalemia, Tachycardia	OMIM:613239
Intrinsic Factor Deficiency	Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo...	OMIM:261000
Coenzyme Q10 Deficiency, Primary, 6	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ...	OMIM:614650
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Hypospadias, Dilated cardiomyopathy, Micropenis, Bradycardia, Hypertrophic cardiomyopathy	OMIM:618815
Glucoglycinuria	Hyperglycinuria, Glycosuria	OMIM:138070
Cystinosis	Renal insufficiency, Proteinuria, Portal hypertension, Renal tubular dysfunction, Hypokalemia, Am...	ORPHA:213
Melorheostosis	Increased bone mineral density, Joint stiffness, Hyperostosis, Arthritis, Ectopic ossification in...	ORPHA:2485
Long Qt Syndrome 9	Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a...	OMIM:611818
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome	Increased bone mineral density	ORPHA:75325
Combined Oxidative Phosphorylation Deficiency 55	Stage 3 chronic kidney disease, Elevated circulating creatine kinase concentration, Hypomagnesemi...	OMIM:619743
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Progressive Familial Heart Block, Type Ib	Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ...	OMIM:604559
Osteopetrosis, Autosomal Recessive 1	Increased bone mineral density, Osteomyelitis, Pancytopenia, Craniosynostosis, Thrombocytopenia, ...	OMIM:259700
Hypokalemic Periodic Paralysis	Episodic hypokalemia, Mildly elevated creatine kinase, Impaired myocardial contractility	ORPHA:681
Hyperkalemic Periodic Paralysis	Hyponatremia, Elevated circulating creatine kinase concentration, Congestive heart failure, Hyper...	ORPHA:682
Acute Adrenal Insufficiency	Hyponatremia, Renal insufficiency, Orthostatic hypotension, Decreased circulating cortisol level,...	ORPHA:95409
Trimethylaminuria	Hypertension, Tachycardia, Trimethylaminuria	OMIM:602079
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Adrenal hyperplasia, Hypospadias, Renal salt wasting, Adrenogenital syndrome, Hypertension	OMIM:201910
Pseudohypoaldosteronism Type 2	Hypertension, Hyperkalemia	ORPHA:757
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Polyuria, Elevated circulating thyroid-stimulating hormone co...	OMIM:618183
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Progressive Familial Heart Block, Type Ii	Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin...	OMIM:140400
Osteopoikilosis And Dacryocystitis	Osteopoikilosis	OMIM:166705
Preeclampsia/Eclampsia 1	Proteinuria	OMIM:189800
Cardiomyopathy, Dilated, 1A	Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P...	OMIM:115200
Hypoparathyroidism, Familial Isolated, 2	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:618883
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hyperkalemia	OMIM:609153
Nephrotic Syndrome, Type 3	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru...	OMIM:610725
Snakebite Envenomation	Hyponatremia, Tachycardia, Epistaxis, Myocardial infarction, Intracranial hemorrhage, Cerebral is...	ORPHA:449285
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Bradycardia	ORPHA:2898
Dentin Dysplasia	Increased bone mineral density	ORPHA:1653
Nephrotic Syndrome, Type 6	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g...	OMIM:614196
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Anemia, Osteopetrosis, Failure to thrive, Thrombocytopenia	OMIM:615085
Cholera	Hyponatremia, Tachycardia, Abnormality of renal excretion, Abnormal blood ion concentration, Hypo...	ORPHA:173
Long Qt Syndrome 5	Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven...	OMIM:613695
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia	OMIM:616277
Coenzyme Q10 Deficiency, Primary, 5	Left ventricular hypertrophy, Hyperalaninemia, Bradycardia	OMIM:614654
Fibronectin Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Abnormal glomerular mesangi...	ORPHA:84090
Cystinosis, Nephropathic	Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophosphatemic rickets...	OMIM:219800
Dent Disease 1	Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N...	OMIM:300009
Mitochondrial Trifunctional Protein Deficiency 2	Increased circulating NT-proBNP concentration, Tricuspid regurgitation, Recurrent myoglobinuria, ...	OMIM:620300
Short Qt Syndrome 2	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul...	OMIM:609621
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,...	OMIM:602088
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced	Myoglobinuria, Renal insufficiency	OMIM:255110
Isolated Osteopoikilosis	Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Sclerotic ...	ORPHA:166119
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612924
Parathyroid Carcinoma	Hypercalcemia	OMIM:608266
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Increased ...	ORPHA:3202
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hyperphosphaturia, Hypercalcemia, Polyuria, Primary hyperparathyroidism, Hypercalciur...	OMIM:239200
Adrenal Hypoplasia, Congenital	Hyponatremia, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypopl...	OMIM:300200
Galactosemia I	Albuminuria, Aminoaciduria, Galactosuria, Increased level of galactitol in urine	OMIM:230400
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Renal phosphate wasting, Hyperphosphaturia, Nephrolithiasis, Hypophosphatemia	OMIM:612287
Hypophosphatasia, Infantile	Elevated plasma pyrophosphate, Hypercalcemia, Craniosynostosis, Increased susceptibility to fract...	OMIM:241500
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr...	OMIM:619041
Citrullinemia Type I	Elevated plasma citrulline, Respiratory alkalosis, Hyperammonemia	ORPHA:247525
Incessant Infant Ventricular Tachycardia	Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge...	ORPHA:45453
Variegate Porphyria	Increased urinary porphobilinogen, Tachycardia, Elevated urinary delta-aminolevulinic acid, Porph...	OMIM:176200
Melorheostosis With Osteopoikilosis	Osteopoikilosis, Abnormal cortical bone morphology	ORPHA:1879
Kenny-Caffey Syndrome, Type 1	Congenital hypoparathyroidism, Hypocalcemia, Hypomagnesemia	OMIM:244460
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612926
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear...	ORPHA:216694
Primary Myelofibrosis	Pancytopenia, Extramedullary hematopoiesis, Cachexia, Thrombocytopenia, Leukocytosis, Splenomegal...	ORPHA:824
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hemoglobinuria	OMIM:266120
Interstitial Nephritis, Karyomegalic	Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne...	OMIM:614817
Combined Oxidative Phosphorylation Deficiency 10	Cardiomegaly, Pericardial effusion, Hyperammonemia, Bradycardia, Hyperalaninemia, Hypertrophic ca...	OMIM:614702
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Nephrotic syndrome, Podocyte foot process effacement, Proteinuria, Minimal change glomerulonephritis	OMIM:617006
Long Qt Syndrome 8	Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int...	OMIM:618447
Tetanus	Tachycardia, Elevated circulating creatine kinase concentration, Elevated urinary norepinephrine ...	ORPHA:3299
Cardiac Arrhythmia, Ankyrin-B-Related	Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope	OMIM:600919
Andersen-Tawil Syndrome	Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil...	ORPHA:37553
Blue Diaper Syndrome	Increased body weight, Hyperphosphatemia, Hypercalcemia	ORPHA:94086
Malignant Hyperthermia, Susceptibility To, 2	Lactic acidosis, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154275
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis	OMIM:619281
Refractory Celiac Disease	Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ...	ORPHA:398063
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,...	OMIM:604772
Mitochondrial Complex I Deficiency, Nuclear Type 13	Hypertrophic cardiomyopathy, Bradycardia, Cardiac arrest	OMIM:618235
Hyperostosis Corticalis Generalisata	Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis	ORPHA:3416
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ...	OMIM:613092
Hyperkalemic Periodic Paralysis	Hyperkalemia	OMIM:170500
Uremic Pruritus	Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k...	ORPHA:94059
Dacryocystitis-Osteopoikilosis Syndrome	Increased bone mineral density, Osteopoikilosis	ORPHA:1562
Flynn-Aird Syndrome	Increased bone mineral density, Osteoporosis, Increased bone density with cystic changes, Joint s...	OMIM:136300
Body Mass Index Quantitative Trait Locus 20	Increased bone mineral density, Obesity	OMIM:618406
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Decreased circulating cortisol level, Premature pubarche, Premature thelarche, Renal salt wasting...	ORPHA:90795
Denys-Drash Syndrome	Nephrotic syndrome, Nephropathy, Proteinuria, Nephroblastoma	ORPHA:220
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Hypovolemia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephr...	ORPHA:47159
Multiple Endocrine Neoplasia, Type Iia	Hyperparathyroidism, Thyroid C cell hyperplasia, Elevated urinary norepinephrine level, Elevated ...	OMIM:171400
Congenital Tricuspid Stenosis	Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Hypotension,...	ORPHA:95459
Cardiomyopathy, Dilated, 2F	Increased left ventricular end-diastolic volume, Increased circulating brain natriuretic peptide ...	OMIM:619747
Myoglobinuria, Autosomal Dominant	Myoglobinuria, Acute kidney injury	OMIM:160010
Van Buchem Disease	Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones	OMIM:239100
Illum Syndrome	Calcinosis, Bradycardia	OMIM:208155
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Elevated circulating C-reactive protein concentration, Asplenia, Increased circ...	OMIM:614034
Atypical Hemolytic Uremic Syndrome	Hematuria, Acute kidney injury, Proteinuria	ORPHA:2134
Granulomatous Slack Skin	Hypercalcemia	ORPHA:33111
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Left atrial enlargement, Cerebral hem...	OMIM:619897
Hypophosphatemic Rickets, X-Linked Recessive	Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Hypophosphatemia, N...	OMIM:300554
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Increased serum lactate, Schistocytosis, Elevated circulating creatinine concent...	OMIM:274150
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis	Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria	OMIM:613913
Dent Disease	Renal insufficiency, Hyperphosphaturia, Renal hypophosphatemia, Elevated circulating creatine kin...	ORPHA:1652
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Atrial fibrillation, Bradycardia	OMIM:614302
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Clavicular sclerosis, Abnormal cortical bone morphology, Generalized o...	ORPHA:2790
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612925
Lactic Acidosis, Chronic Adult Form	Hyperuricemia, Chronic lactic acidosis	OMIM:150170
Heart-Hand Syndrome, Slovenian Type	Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm...	ORPHA:168796
Melorheostosis, Isolated	Hyperostosis, Increased bone mineral density	OMIM:155950
Phosphoribosylpyrophosphate Synthetase Superactivity	Renal insufficiency, Hypertension, Cardiomyopathy, Abnormal aortic morphology, Hyperuricemia, Arr...	ORPHA:3222
Erythrocytosis, Familial, 2	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:263400
Sick Sinus Syndrome 4	Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation...	OMIM:619464
Aminoacylase 1 Deficiency	Bradycardia	OMIM:609924
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Calcium nephrolithiasis, Decreased circulating parathyroid hormone level, Abnormal circulating ca...	OMIM:241530
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti...	ORPHA:289548
Muscular Dystrophy, Becker Type	Abnormal EKG, Arrhythmia, Elevated circulating creatine kinase concentration, Cardiomyopathy	OMIM:300376
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce...	OMIM:611555
Celiac Disease, Susceptibility To, 1	Macrocytic anemia, Osteoporosis, Rickets, Weight loss, Iron deficiency anemia, Hypocalcemia, Thro...	OMIM:212750
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, Increased circulati...	ORPHA:168558
Paget Disease Of Bone 2, Early-Onset	Hypercalcemia, Fractures of the long bones, Osteolysis, Increased susceptibility to fractures, Sc...	OMIM:602080
Malignant Hyperthermia, Susceptibility To, 3	Lactic acidosis, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154276
Infant Acute Respiratory Distress Syndrome	Tachycardia, Bradycardia, Cardiac arrest, Hypotension	ORPHA:70587
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ...	OMIM:601493
Brugada Syndrome	Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment...	ORPHA:130
Addison Disease	Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti...	ORPHA:85138
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co...	ORPHA:766
Osteochondrosis Of The Metatarsal Bone	Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness	ORPHA:564003
Fanconi-Bickel Syndrome	Hyperphosphaturia, Hypertriglyceridemia, Diabetes mellitus, Hypercalciuria, Generalized aminoacid...	ORPHA:2088
Cardiogenic Shock	Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction...	ORPHA:97292
Autosomal Dominant Hypophosphatemic Rickets	Osteomalacia, Rickets, Iron deficiency anemia, Hypocalcemia, Hypophosphatemia	ORPHA:89937
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Abnormal blood ion concentration, Abnormal tubulointerstitial morphology, Rena...	ORPHA:411629
Vitamin D-Dependent Rickets, Type 3	Osteopenia, Hypocalcemia, Hypophosphatemia	OMIM:619073
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ...	ORPHA:730
Cardiomyopathy, Familial Hypertrophic, 16	Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy...	OMIM:613838
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f...	OMIM:604400
Relapsing Fever	Tachycardia, Epistaxis, Elevated circulating C-reactive protein concentration, Elevated circulati...	ORPHA:91547
Nephrotic Syndrome, Type 22	Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Ne...	OMIM:619155
Albers-Schönberg Osteopetrosis	Abnormal leukocyte morphology, Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Gene...	ORPHA:53
Congenital Dyserythropoietic Anemia Type Iii	Anisocytosis, Abnormal erythrocyte morphology, Increased serum iron, Increased mean corpuscular v...	ORPHA:98870
Mueller-Weiss Syndrome	Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A...	ORPHA:566943
Cardiomyopathy, Dilated, 1Ii	Increased left ventricular end-diastolic volume, Elevated circulating creatine kinase concentrati...	OMIM:615184
Cardiomyopathy, Familial Hypertrophic, 1	Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy	OMIM:192600
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Ketonuria, Elevated circulating growth hormone concentration, Multiple pancreatic beta-cell adeno...	ORPHA:79644
Atrial Fibrillation, Familial, 7	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad...	OMIM:612240
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc...	OMIM:613251
Obesity Due To Sim1 Deficiency	Postural hypotension with compensatory tachycardia, Hypotension	ORPHA:369873
Glucose-Galactose Malabsorption	Failure to thrive, Hypernatremia, Hypercalcemia, Weight loss	ORPHA:35710
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Decreased circulating cortisol level, Male hypogonadism, Micropenis, Decreased circulating renin ...	ORPHA:90793
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Increased bone mineral density, Craniosynostosis	ORPHA:178377
Pheochromocytoma--Islet Cell Tumor Syndrome	Tachycardia, Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine lev...	OMIM:171420
Glycogen Storage Disease Due To Aldolase A Deficiency	Elevated creatine kinase after exercise, Hyperkalemia, Arrhythmia, Myoglobinuria, Acute kidney in...	ORPHA:57
Left Ventricular Noncompaction 8	Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ...	OMIM:615373
Oculoskeletodental Syndrome	Renal agenesis, Hypercalcemia, Hypercalciuria, Lacunar stroke, Mucopolysacchariduria, Hypocalcemi...	OMIM:618440
Pearson Syndrome	Hypoparathyroidism, Renal insufficiency, Diabetes mellitus, Proteinuria, Decreased response to gr...	ORPHA:699
Long Qt Syndrome 13	Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri...	OMIM:613485
Myopathy, Tubular Aggregate, 2	Hypocalcemia, Elevated circulating creatine kinase concentration, Ankle flexion contracture	OMIM:615883
Genetic Recurrent Myoglobinuria	Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Hyperka...	ORPHA:99845
Cardiomyopathy, Familial Hypertrophic, 12	Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr...	OMIM:612124
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, P...	ORPHA:542306
Alpha-Heavy Chain Disease	Splenomegaly, Hypocalcemia, Anemia	ORPHA:100025
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Renal hypoplasia, Nephrocalcinosis, Hypertension, Hypokalemia, Aminoaci...	OMIM:617913
Citrullinemia, Classic	Respiratory alkalosis, Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication, Elevated...	OMIM:215700
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Splenomegaly, Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2204
Hydroxykynureninuria	Renal tubular acidosis, Abnormal circulating tryptophan concentration, Tachycardia, Hypotension	ORPHA:79155
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric...	OMIM:614021
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ...	OMIM:612158
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Necrotizing Enterocolitis	Hyponatremia, Shock, Abnormal heart morphology, Bradycardia, Hypotension	ORPHA:391673
Sclerosteosis	Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:3152
Cardiomyopathy, Dilated, 1E	Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio...	OMIM:601154
Tempi Syndrome	Increased hematocrit, Polycythemia	ORPHA:284227
Congenital Heart Defects, Multiple Types, 3	Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle...	OMIM:614954
Sick Sinus Syndrome 1	Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br...	OMIM:608567
Renal Hypoplasia, Bilateral	Hyponatremia, Proteinuria, Chronic kidney disease, Hyperkalemia, Renal hypoplasia, Renal cyst, Ol...	ORPHA:97362
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Left axis deviation, Cardiomegaly, Congestive heart failure, ST segment el...	OMIM:261740
Schnitzler Syndrome	Increased bone mineral density, Splenomegaly, Leukocytosis, Arthritis, Anemia	ORPHA:37748
Axial Osteomalacia	Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration	OMIM:109130
Catecholaminergic Polymorphic Ventricular Tachycardia	Syncope, Ventricular tachycardia, Sudden cardiac death	ORPHA:3286
Paternal Uniparental Disomy Of Chromosome 1	Hypercalcemia, Recurrent fractures, Craniosynostosis, Obesity, Increased blood urea nitrogen, Epi...	ORPHA:251004
Late-Onset Isolated Acth Deficiency	Hyponatremia, Hypoparathyroidism, Orthostatic hypotension, Decreased circulating cortisol level, ...	ORPHA:199299
Idiopathic Congenital Hypothyroidism	Bradycardia, Neonatal hyperbilirubinemia	ORPHA:95717
Cln3 Disease	Left ventricular hypertrophy, T-wave inversion, Urinary bladder sphincter dysfunction, Bradycardia	ORPHA:228346
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemic rickets, Renal phosphate wasting, Hypophosphatemia	OMIM:193100
Propionic Acidemia	Cardiomyopathy, Arrhythmia, Organic aciduria, Hyperammonemia	ORPHA:35
Cardiomyopathy, Familial Hypertrophic, 8	Cardiac arrest, Sudden cardiac death, Left atrial enlargement, Congestive heart failure, T-wave i...	OMIM:608751
Cardiomyopathy, Familial Hypertrophic, 11	Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi...	OMIM:612098
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Increased bone mineral density, Small for gestational age, Hyperphosp...	OMIM:127000
Small Cell Carcinoma Of The Bladder	Hypercalcemia	ORPHA:284400
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Hyperthyroidism, Abnormality of the endocrine system, Abnormal blood ion concentration, Thyroidit...	ORPHA:37042
Amyloidosis, Familial Visceral	Hematuria, Nephrotic syndrome, Nephropathy, Proteinuria	OMIM:105200
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Rickets, Hypercalcemia, Hypophosphatemia	OMIM:612089
Primary Hyperoxaluria	Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Heart block, Raynaud phenomenon, Arteri...	ORPHA:416
Carnitine-Acylcarnitine Translocase Deficiency	Dicarboxylic aciduria, Elevated circulating acylcarnitine concentration, Ventricular tachycardia,...	ORPHA:159
Arterial Calcification, Generalized, Of Infancy, 2	Tricuspid regurgitation, Myocardial infarction, Coronary artery calcification, Cardiomegaly, Cong...	OMIM:614473
Metaphyseal Chondrodysplasia, Jansen Type	Hypoparathyroidism, Hyperphosphaturia, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Hypophosp...	OMIM:156400
Sting-Associated Vasculopathy, Infantile-Onset	Failure to thrive, Elevated circulating C-reactive protein concentration, Joint stiffness, Leukop...	OMIM:615934
X-Linked Hypophosphatemia	Renal phosphate wasting, Hypocalciuria, Hypophosphatemia	ORPHA:89936
Infantile Myofibromatosis	Hypercalcemia, Bone cyst, Osteolysis, Limitation of joint mobility	ORPHA:2591
Adenine Phosphoribosyltransferase Deficiency	Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis...	ORPHA:976
Legionnaires Disease	Hyponatremia, Renal insufficiency, Pericarditis, Proteinuria, Myocarditis, Hematuria, Hypotension...	ORPHA:549
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Abnormal circulating biopterin concentration, Maturity-onset diabetes of the young, Hyperphenylal...	ORPHA:1578
Pituitary Adenoma 4, Acth-Secreting	Hypokalemia, Alkalosis	OMIM:219090
Majeed Syndrome	Increased bone mineral density, Osteomyelitis, Cachexia, Congenital hypoplastic anemia, Splenomeg...	ORPHA:77297
Bone Marrow Failure Syndrome 6	Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphope...	OMIM:618849
Coproporphyria, Hereditary	Hypertension, Tachycardia, Increased urinary porphobilinogen, Elevated urinary delta-aminolevulin...	OMIM:121300
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri...	OMIM:610193
Nelson Syndrome	Increased urinary cortisol level, Pituitary corticotropic cell adenoma, Adrenocorticotropic hormo...	ORPHA:199244
Cardiomyopathy, Familial Hypertrophic, 10	Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert...	OMIM:608758
Hypouricemia, Renal, 1	Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co...	OMIM:220150
Pyruvate Dehydrogenase E1-Beta Deficiency	Lactic acidosis, Hyperammonemia	OMIM:614111
Multiple Myeloma	Osteopenia, Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Weight lo...	ORPHA:29073
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Respiratory alkalosis, Elevated circulating uracil concentration, Hyperglutaminemia, Low plasma c...	OMIM:311250
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio...	OMIM:611528
Car T Cell Therapy-Associated Cytokine Release Syndrome	Tachycardia, Heart block, Elevated circulating creatinine concentration, Capillary leak, Reduced ...	ORPHA:542323
Atrial Fibrillation, Familial, 15	Atrial flutter, Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Supraventricu...	OMIM:615770
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Decreased circulating cortisol level, Renal salt wasting, Premature adrenarche, Hyponatremia, Hyp...	ORPHA:90794
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Drug-Induced Lupus Erythematosus	Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce...	ORPHA:231111
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Decreased circulating ACTH concentration, Hypertension, Increas...	OMIM:615954
Combined Oxidative Phosphorylation Deficiency 24	Metabolic alkalosis, Increased serum lactate, Elevated circulating creatine kinase concentration	OMIM:616239
Primary Intestinal Lymphangiectasia	Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	ORPHA:90362
Cardiomyopathy, Dilated, 1G	Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A...	OMIM:604145
Pseudohypoparathyroidism, Type Ib	Pseudohypoparathyroidism, Hyperphosphatemia, Elevated circulating parathyroid hormone level, Hypo...	OMIM:603233
Perry Syndrome	Hypotension	ORPHA:178509
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Congenital adrenal hyperplasia, Long penis, Decreased circulating aldosterone level, Adrenogenita...	OMIM:202010
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Recurrent fractures, Mandibular osteom...	OMIM:259710
Trichodentoosseous Syndrome	Increased bone mineral density	OMIM:190320
Systemic Capillary Leak Syndrome	Renal insufficiency, Pericarditis, Myocarditis, Oliguria, Hypotension, Arrhythmia, Pancreatitis, ...	ORPHA:188
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Iron deficiency anemia, Hypoalbuminemia, Thrombocytosis, Hypoproteinemia, Anemia	OMIM:226300
Osteopetrosis, Autosomal Dominant 1	Thickened cortex of long bones, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis	OMIM:607634
Infant Botulism	Hyponatremia, Cardiac arrest, Xerostomia, Hypertension, Hypotension	ORPHA:178478
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Thymic Neuroendocrine Tumor	Osteopenia, Hypercalcemia, Weight loss	ORPHA:97289
Hypoadrenocorticism, Familial	Hyponatremia, Hyperkalemia	OMIM:240200
Nephronophthisis 13	Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5...	OMIM:614377
Renal Tubular Dysgenesis	Renotubular dysgenesis, Abnormality of the urinary system, Anuria, Hypotension	OMIM:267430
Gaisböck Syndrome	Hypertriglyceridemia, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Hyperpro...	ORPHA:90041
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Anuria, Myocardial infarction, Elevated circulating creatinine concentration, Hemog...	ORPHA:90038
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Renal insufficiency, Tachycardia, Atrial fibrillation, Congestive h...	ORPHA:31826
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ...	ORPHA:786
Pituitary Apoplexy	Hyponatremia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te...	ORPHA:95613
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Hypokalemic alkalosis	OMIM:202110
Non-Functioning Paraganglioma	Hypercalcemia, Weight loss	ORPHA:94080
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M...	OMIM:235400
Idiopathic Non-Lupus Full-House Nephropathy	Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat...	ORPHA:567544
Autosomal Recessive Kenny-Caffey Syndrome	Cortical thickening of long bone diaphyses, Hypocalcemia, Hypocalcemic tetany, Decreased skull os...	ORPHA:93324
Osteosclerosis With Ichthyosis And Fractures	Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures	OMIM:166740
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Conjugated hyperbilirubinemia, Increased serum lactate, Hyperkalemia, Metabolic acidosis, Hypoalb...	OMIM:618528
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4	Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,...	OMIM:614916
Glutamine Deficiency, Congenital	Hypoglutaminemia, Bradycardia, Hyperammonemia	OMIM:610015
Lipodystrophy, Partial, Acquired, Susceptibility To	Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria	OMIM:608709
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr...	OMIM:618920
Poems Syndrome	Sclerosis of hand bone, Sclerosis of foot bone, Weight loss, Sclerosis of skull base, Thrombocyto...	ORPHA:2905
Fanconi Renotubular Syndrome 3	Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-...	OMIM:615605
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome	Bundle branch block, Arrhythmia, Abnormal cardiac septum morphology	ORPHA:1479
Leprechaunism	Long penis, Hyperinsulinemia, Hypercalciuria, Central hypothyroidism, Nephrocalcinosis, Hypokalem...	ORPHA:508
Hemorrhagic Fever-Renal Syndrome	Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis...	ORPHA:340
Atrial Septal Defect, Sinus Venosus Type	Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria...	ORPHA:99105
Multiple Endocrine Neoplasia Type 2	Hyperhidrosis, Elevated circulating parathyroid hormone level, Pheochromocytoma, Elevated urinary...	ORPHA:653
Pheochromocytoma	Tachycardia, Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine lev...	OMIM:171300
Cryoglobulinemia, Familial Mixed	Hematuria, Chronic kidney disease, Proteinuria, Abnormal renal physiology	OMIM:123550
Immunodeficiency 92	Osteomyelitis, Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytop...	OMIM:619652
Cardiomyopathy, Dilated, 1O	Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co...	OMIM:608569
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Thrombocytopenia, ...	OMIM:617021
Craniodiaphyseal Dysplasia, Autosomal Dominant	Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis	OMIM:122860
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Elevated circulating creatine kinase concentration, Sinus bradycardia, Second degree atrioventric...	OMIM:616812
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Splenomegaly, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration	OMIM:619658
Frasier Syndrome	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:136680
Hyperparathyroidism-Jaw Tumor Syndrome	Renal insufficiency, Renal hamartoma, Hypercalcemia, Shortened QT interval, Primary hyperparathyr...	ORPHA:99880
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Ventricular septal defect, Elevated circulating creatine kinase con...	OMIM:618775
Autoimmune Hypoparathyroidism	Increased bone mineral density, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemi...	ORPHA:36913
Pigmented Nodular Adrenocortical Disease, Primary, 1	Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig...	OMIM:610489
Congenitally Uncorrected Transposition Of The Great Arteries	Cardiac shunt, Cardiomegaly, Abnormal aortic arch morphology, Dextrotransposition of the great ar...	ORPHA:860
Hereditary Fructose Intolerance	Renal insufficiency, Episodic hyperhidrosis, Chronic kidney disease, Hypermagnesemia, Hyperuricem...	ORPHA:469
Pseudopseudohypoparathyroidism	Ectopic ossification, Hyperphosphatemia, Hypocalcemia, Obesity	ORPHA:79445
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hypertriglyceridemia, Adrenal calcification, Renal salt wasting, Hyperkalemia, Abno...	ORPHA:275761
Post-Traumatic Pituitary Deficiency	Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Decreased c...	ORPHA:95619
Pseudohypoparathyroidism Type 2	Calcinosis, Prolonged QT interval, Pseudohypoparathyroidism, Hyperphosphatemia, Elevated circulat...	ORPHA:94090
Coronary Arterial Fistula	Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect...	ORPHA:2041
Glycogen Storage Disease X	Myoglobinuria, Renal insufficiency	OMIM:261670
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Ventricular septal defect, Peripheral arterial stenosis, Sinus bradycardia	OMIM:126320
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Elevated circulating C-reactive protein concentration, Weight loss, Arthritis, Iron deficiency an...	OMIM:301074
Developmental And Epileptic Encephalopathy 101	Third degree atrioventricular block, Bradycardia	OMIM:619814
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypocalcem...	OMIM:600081
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volum...	OMIM:185000
Galloway-Mowat Syndrome 8	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome...	OMIM:618349
Osteopetrosis, Autosomal Dominant 2	Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle...	OMIM:166600
Parathyroid Carcinoma	Renal insufficiency, Renal hamartoma, Hypercalcemia, Shortened QT interval, Primary hyperparathyr...	ORPHA:143
X-Linked Agammaglobulinemia	Osteomyelitis, Thrombocytopenia, Weight loss, Arthritis, Hypocalcemia, Neutropenia, Failure to th...	ORPHA:47
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Hyponatr...	ORPHA:534
Attrv122I Amyloidosis	Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr...	ORPHA:85451
Paget Disease Of Bone 5, Juvenile-Onset	Increased urine deoxypyridinoline level, Hydroxyprolinemia, Hypercalciuria, Hyperphosphatemia, Hy...	OMIM:239000
Scorpion Envenomation	Bundle branch block, Tachycardia, Increased circulating NT-proBNP concentration, Ketonuria, Cardi...	ORPHA:466677
Lecithin:Cholesterol Acyltransferase Deficiency	Renal insufficiency, Proteinuria	OMIM:245900
Bone Marrow Failure And Diabetes Mellitus Syndrome	Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias	OMIM:620044
Brugada Syndrome 1	Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso...	OMIM:601144
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Cardiomyopathy, Arrhythmia, Bradycardia	OMIM:609286
Familial Thyroid Dyshormonogenesis	Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Bradycardia	ORPHA:95716
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Bradycardia, Atrioventricular block	OMIM:614407
Oculoskeletodental Syndrome	Hypercalcemia, Hypocalcemia	ORPHA:557003
Meningococcal Meningitis	Hypotension, Renal insufficiency, Shock, Elevated circulating C-reactive protein concentration	ORPHA:33475
Acquired Von Willebrand Syndrome	Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Hematuria, Intracranial hemorrhage,...	ORPHA:99147
Malignant Hyperthermia Of Anesthesia	High-output congestive heart failure, Myoglobinuria, Hyperkalemia, Ventricular tachycardia, Cardi...	ORPHA:423
Osteootohepatoenteric Syndrome	Hypokalemia, Proteinuria, Grade II vesicoureteral reflux, Increased serum bile acid concentration	OMIM:619377
2P21 Microdeletion Syndrome	Failure to thrive, Hypocalcemia	ORPHA:163693
Ventricular Fibrillation, Paroxysmal Familial, 1	Tachycardia, Syncope, Ventricular fibrillation	OMIM:603829
Imerslund-Grasbeck Syndrome 1	Microscopic hematuria, Proteinuria	OMIM:261100
Focal Segmental Glomerulosclerosis 1	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Reduced renal co...	OMIM:603278
Long Qt Syndrome 2	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613688
Diamond-Blackfan Anemia 8	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Loeffler Endocarditis	Aortic regurgitation, Abnormal morphology of the chordae tendinae of the mitral valve, Pericardit...	ORPHA:75566
Immunodeficiency, Common Variable, 6	Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposition, Macrosco...	OMIM:613496
Argininosuccinic Aciduria	Respiratory alkalosis, Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication, Hypoargi...	OMIM:207900
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong...	OMIM:609040
Coenzyme Q10 Deficiency, Primary, 3	Nephrotic syndrome, Proteinuria	OMIM:614652
Hypophosphatemic Rickets, Autosomal Recessive, 2	Hypophosphatemic rickets, Hyperphosphaturia, Medullary nephrocalcinosis, Pulmonic stenosis	OMIM:613312
Nipah Virus Disease	Hypotension	ORPHA:99825
Scrub Typhus	Myocarditis, Renal insufficiency, Hypotension, Hyperhidrosis	ORPHA:83317
Juvenile Polyposis Syndrome	Hematochezia, Hypokalemia, Hypoalbuminemia	OMIM:174900
Cardiomyopathy, Familial Hypertrophic, 17	Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,...	OMIM:613873
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Decreased circulating cortisol level, Decreased serum insulin-like growth factor 1,...	ORPHA:293978
Hereditary Amyloidosis With Primary Renal Involvement	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:85450
D-Glyceric Aciduria	Aminoaciduria, Bradycardia, Nonketotic hyperglycinemia, Micropenis	OMIM:220120
Glucocorticoid Resistance, Generalized	Metabolic alkalosis	OMIM:615962
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hyperphosphaturia, Diabetes mellitus, Proteinuria, Hypouricemia, Nephrocalcinosis, Glycosuria, Am...	OMIM:616026
Ventricular Tachycardia, Familial	Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death	OMIM:192605
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness	Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent...	OMIM:615441
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Dark urine, Tachycardia, Recurrent myoglobinuria, Elevated circulating creatine kinase concentrat...	ORPHA:368
Dentin Dysplasia With Sclerotic Bones	Cortical sclerosis	OMIM:125440
Lipodystrophy, Congenital Generalized, Type 3	Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholesterolemia	OMIM:612526
Wolff-Parkinson-White Syndrome	Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com...	OMIM:194200
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con...	OMIM:301083
Long Qt Syndrome 6	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613693
Hyperparathyroidism 2 With Jaw Tumors	Hypercalcemia	OMIM:145001
Nephrotic Syndrome, Type 8	Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,...	OMIM:615244
Bronchial Neuroendocrine Tumor	Tricuspid regurgitation, Elevated circulating growth hormone concentration, Right ventricular fai...	ORPHA:97287
Beta-Ketothiolase Deficiency	Leukocytosis, Hyperammonemia, Weight loss, Hyperuricemia, Thrombocytosis	ORPHA:134
C3 Glomerulopathy	Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext...	ORPHA:329918
Fibrous Dysplasia Of Bone	Thin bony cortex, Cortical irregularity, Osteomalacia, Hypercalcemia, Fibrous dysplasia of the bo...	ORPHA:249
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Abnormality of thrombocytes, Splenomegaly, Leukocytosis, Hepatosple...	OMIM:612840
Renal Hypoplasia	Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ...	ORPHA:93101
Osteopetrosis, Autosomal Recessive 5	Increased bone mineral density, Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia, Leu...	OMIM:259720
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac...	OMIM:607450
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Mitral regurgitation, Tricuspid regurgitation, Hypocalciuria, Hypophosphaturia	ORPHA:73223
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Minimal change glomerulonephritis, Chronic kidney disease, Stage 5 chronic kidney disease, Focal ...	ORPHA:567546
Long Qt Syndrome 3	Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ...	OMIM:603830
Dengue Fever	Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Hypotension, Hypoproteinemia	ORPHA:99828
Tsh-Secreting Pituitary Adenoma	Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,...	ORPHA:91347
Drug-Induced Autoimmune Hemolytic Anemia	Congestive heart failure, Tachycardia, Abnormal urinary color, Increased total bilirubin	ORPHA:90037
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Elevated creatine kinase after exercise, Hypercalcemia	ORPHA:284426
Acquired Partial Lipodystrophy	Glomerulopathy, Microscopic hematuria, Proteinuria	ORPHA:79087
Alport Syndrome 2, Autosomal Recessive	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne...	OMIM:203780
Peripartum Cardiomyopathy	Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,...	ORPHA:563
Cocaine Intoxication	Prolonged QT interval, Tachycardia, Proteinuria, Glomerulonephritis, Elevated circulating creatin...	ORPHA:90068
Endosteal Hyperostosis, Autosomal Dominant	Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular sclerosis, Thickened cortex o...	OMIM:144750
Oslam Syndrome	Radioulnar synostosis, Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Beemer-Ertbruggen Syndrome	Increased bone mineral density, Thrombocytopenia	ORPHA:1237
Hypoparathyroidism, Familial Isolated, 1	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:146200
Andersen Cardiodysrhythmic Periodic Paralysis	Prolonged QT interval, Bidirectional ventricular ectopy, Hypokalemia, Syncope, Palpitations, Prom...	OMIM:170390
Hereditary Coproporphyria	Hyponatremia, Dark urine, Tachycardia, Abnormal circulating porphyrin concentration, Porphyrinuri...	ORPHA:79273
Pseudo-Torch Syndrome 2	Secundum atrial septal defect, Abnormal renal corticomedullary differentiation, Bradycardia, Cere...	OMIM:617397
Gaucher Disease Type 1	Osteopenia, Increased bone mineral density, Pancytopenia, Hypersplenism, Thrombocytopenia, Osteoa...	ORPHA:77259
Non-Functioning Pituitary Adenoma	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:91349
Pulmonary Hypertension, Primary, 1	Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc...	OMIM:178600
Pseudohypoparathyroidism Type 1B	Calcinosis, Increased bone mineral density, Diaphyseal sclerosis, Hyperphosphatemia, Increased bo...	ORPHA:94089
Mitochondrial Complex I Deficiency, Nuclear Type 37	Pulmonary arterial hypertension, Hypospadias, Bradycardia	OMIM:619272
Lujo Hemorrhagic Fever	Shock, Renal insufficiency, Elevated circulating C-reactive protein concentration, Myocarditis, O...	ORPHA:319213
Familial Thrombocytosis	Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Weight loss, Thrombocytosis	ORPHA:71493
3-Hydroxy-3-Methylglutaric Aciduria	Leukocytosis, Hyperammonemia, Weight loss, Leukopenia, Hyperuricemia, Thrombocytosis, Anemia	ORPHA:20
Hypocalcemic Vitamin D-Resistant Rickets	Recurrent fractures, Osteomalacia, Bone cyst, Osteolysis, Hypocalcemia, Hypophosphatemia, Abnorma...	ORPHA:93160
Multiple Endocrine Neoplasia Type 1	Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t...	ORPHA:652
Methylcobalamin Deficiency Type Cble	Hypomethioninemia, Macrocytic anemia, Pancytopenia, Osteoporosis, Hyperhomocystinemia, Increased ...	ORPHA:2169
Congenital Disorder Of Glycosylation, Type Ia	Osteopenia, Flexion contracture, Hypoalbuminemia, Hypocholesterolemia, Thrombocytosis, Failure to...	OMIM:212065
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease	OMIM:614455
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Bradycardia	OMIM:614498
Acitretin/Etretinate Embryopathy	Third degree atrioventricular block, Atrioventricular canal defect, Bradycardia, Conotruncal defect	ORPHA:40366
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Ventricular hypertrophy, ST segment elevation, Ventricular tachycardia, Ventricular septal hypert...	ORPHA:263297
Sepsis In Premature Infants	Tachycardia, Elevated circulating C-reactive protein concentration, Oliguria, Bradycardia, Hypote...	ORPHA:90051
Interstitial Lung And Liver Disease	Anemia, Thrombocytosis, Failure to thrive, Hyperammonemia	OMIM:615486
Diamond-Blackfan Anemia	Acute myeloid leukemia, Small for gestational age, Pure red cell aplasia, Erythroid hypoplasia, R...	ORPHA:124
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a...	ORPHA:300751
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Ureteral stenosis, Hydroureter, Hypercalciuria, Renal cyst, Nephrocalcinosis, Restrictive cardiom...	OMIM:615398
Birk-Landau-Perez Syndrome	Stage 3 chronic kidney disease, Renal insufficiency, Hyperkalemia, Renal hypoplasia, Tubulointers...	OMIM:617595
Diamond-Blackfan Anemia 6	Macrocytic anemia, Persistence of hemoglobin F, Increased mean corpuscular volume, Tracheomalacia...	OMIM:612561
Whipple Disease	Hyponatremia, Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Myocarditis, Hypo...	ORPHA:3452
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypocalcem...	OMIM:264700
Adult Acute Respiratory Distress Syndrome	Shock, Vasculitis, Hypotension	ORPHA:70578
Staphylococcal Necrotizing Pneumonia	Shock, Diabetes mellitus, Elevated circulating C-reactive protein concentration, Hypotension, Inc...	ORPHA:36238
Inhalational Anthrax	Internal hemorrhage, Hypotension	ORPHA:247257
Bacterial Toxic-Shock Syndrome	Shock, Renal insufficiency, Recurrent urinary tract infections, Tachycardia, Elevated circulating...	ORPHA:36234
Cutaneous Mastocytoma	Telangiectasia of the skin, Hypotension, Telangiectasia macularis eruptiva perstans	ORPHA:79455
Exercise-Induced Malignant Hyperthermia	Prolonged QT interval, Anhidrosis, Sinus tachycardia, Elevated circulating creatine kinase concen...	ORPHA:466650
Cardiomyopathy, Dilated, 1S	Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D...	OMIM:613426
Autoerythrocyte Sensitization Syndrome	Impaired platelet adhesion, Autoimmune thrombocytopenia, Abnormal erythrocyte morphology, Thrombo...	ORPHA:324636
Trichohepatoenteric Syndrome 1	Small for gestational age, Increased mean platelet volume, Splenomegaly, Increased serum iron, Hy...	OMIM:222470
Congenital Disorder Of Glycosylation, Type Im	Dilated cardiomyopathy, Bradycardia, Increased circulating free fatty acid level	OMIM:610768
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Partial development of the penile shaft, Bradycardia	OMIM:608800
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis	Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Hypocitraturia	OMIM:620374
Atrial Fibrillation, Familial, 14	ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval	OMIM:615378
Generalized Pustular Psoriasis	Hyponatremia, Elevated circulating C-reactive protein concentration, Overweight, Leukocytosis, Ob...	ORPHA:247353
Gracile Bone Dysplasia	Asplenia, Decreased skull ossification, Hypocalcemia, Hypoplastic spleen, Failure to thrive	OMIM:602361
Hyperinsulinism Due To Ucp2 Deficiency	Tachycardia, Decreased circulating free fatty acid level, Syncope, Palpitations, Hypertrophic car...	ORPHA:276556
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:300946
Hypocalcemic Vitamin D-Dependent Rickets	Osteomalacia, Delayed epiphyseal ossification, Rickets, Increased susceptibility to fractures, Sp...	ORPHA:289157
Al Amyloidosis	Renal insufficiency, Proteinuria, Abnormality of the kidney, Renal interstitial amyloid deposits,...	ORPHA:85443
Wilson Disease	Hypoparathyroidism, Hyperphosphaturia, Decreased circulating ceruloplasmin concentration, Hypouri...	OMIM:277900
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis	OMIM:618913
Serotonin Syndrome	Tachycardia, Hyperhidrosis, Hypertension, Hypotension, Acute kidney injury	ORPHA:43116
Genetic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Chronic...	ORPHA:656
Pseudohypoparathyroidism, Type Ic	Osteoporosis, Obesity, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany	OMIM:612462
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt...	OMIM:243150
Galloway-Mowat Syndrome 5	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:617731
Secondary Intestinal Lymphangiectasia	Right ventricular failure, Reduced circulating transferrin concentration, Intestinal bleeding, Hy...	ORPHA:90363
Glycogen Storage Disease Xi	Myoglobinuria, Renal insufficiency	OMIM:612933
Familial Mediterranean Fever, Autosomal Dominant	Renal insufficiency, Proteinuria, Renal amyloidosis	OMIM:134610
Neuroendocrine Tumor Of The Colon	Tricuspid regurgitation, Right ventricular failure, Melena, Palpitations, Hypotension, Facial tel...	ORPHA:100080
Brucellosis	Osteomyelitis, Thrombocytosis, Small for gestational age, Elevated circulating C-reactive protein...	ORPHA:1304
Thrombocytopenia, Anemia, And Myelofibrosis	Myelofibrosis, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia	OMIM:617441
Lcat Deficiency	Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Acute kidney injury, Decreased ...	ORPHA:650
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Bradycardia	ORPHA:226313
Glycogen Storage Disease V	Dark urine, Myoglobinuria	OMIM:232600
Osteogenesis Imperfecta, Type Xiii	Increased bone mineral density, Recurrent fractures, Osteoporosis, Reduced bone mineral density, ...	OMIM:614856
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Tachycardia, Decreased circulating free fatty acid level, Syncope, Palpitations, Hypertrophic car...	ORPHA:276575
Acute Interstitial Pneumonia	Elevated circulating creatinine concentration, Reduced hematocrit, Elevated circulating C-reactiv...	ORPHA:79126
Lipodystrophy, Congenital Generalized, Type 4	Prolonged QT interval, Tachycardia, Hypertriglyceridemia, Atrial fibrillation, Elevated circulati...	OMIM:613327
Camurati-Engelmann Disease	Increased bone mineral density, Diaphyseal sclerosis, Cortical thickening of long bone diaphyses,...	OMIM:131300
Hellp Syndrome	Proteinuria, Cerebral hemorrhage, Hemoglobinuria, Hypotension, Acute kidney injury, Internal hemo...	ORPHA:244242
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut	Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Orthostatic hypotension, Sta...	OMIM:191800
Cardiac Valvular Dysplasia 2	Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, B...	OMIM:620067
Sheehan Syndrome	Hyponatremia, Orthostatic hypotension, Hyposthenuria, Palpitations, Bradycardia	ORPHA:91355
Galloway-Mowat Syndrome 2, X-Linked	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom...	OMIM:301006
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Elevated circulating creatine kinase concentration, Abnormal left ventricula...	ORPHA:99827
Danon Disease	Wolff-Parkinson-White syndrome, Myocardial necrosis, Elevated circulating creatine kinase concent...	OMIM:300257
Maternally-Inherited Diabetes And Deafness	Glomerulopathy, Renal insufficiency, Proteinuria	ORPHA:225
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir...	ORPHA:276152
Sporadic Pheochromocytoma/Secreting Paraganglioma	Hypercalcemia, Weight loss	ORPHA:276621
Hypophosphatemic Rickets, X-Linked Dominant	Abnormal circulating calcium concentration, Renal tubular dysfunction, Renal phosphate wasting, E...	OMIM:307800
Neuroendocrine Tumor Of The Rectum	Tricuspid regurgitation, Right ventricular failure, Hematochezia, Melena, Palpitations, Hypotensi...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Tricuspid regurgitation, Right ventricular failure, Hematochezia, Melena, Palpitations, Hypotensi...	ORPHA:100082
Dietary Iron Overload Disease	Diabetes mellitus, Increased circulating ferritin concentration, Elevated transferrin saturation,...	ORPHA:139507
Cholestasis, Progressive Familial Intrahepatic, 12	Proteinuria	OMIM:620010
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia, Precocious puberty, Hypercalciuria, Rena...	ORPHA:369837
Thrombotic Thrombocytopenic Purpura	Hematuria, Renal insufficiency, Acute kidney injury, Proteinuria	ORPHA:54057
Congenital Myopathy 22A, Classic	Tricuspid regurgitation, Mildly elevated creatine kinase, Bradycardia	OMIM:620351
Glossopharyngeal Neuralgia	Syncope, Jaw claudication, Bradycardia	ORPHA:221098
Cranioectodermal Dysplasia 1	Renal magnesium wasting, Chronic kidney disease, Stage 5 chronic kidney disease, Tubulointerstiti...	OMIM:218330
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Nephrotic syndrome, Mucopolysacchariduria, Proteinuria	OMIM:215250
Double Outlet Right Ventricle	Tachycardia, Ventricular septal defect, Double outlet right ventricle, Heart murmur, Coarctation ...	ORPHA:3426
Anti-Glomerular Basement Membrane Disease	Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria	ORPHA:375
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Pancytopenia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, ...	OMIM:615688
Marburg Hemorrhagic Fever	Shock, Renal insufficiency, Tachycardia, Pericarditis, Elevated circulating creatine kinase conce...	ORPHA:99826
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Increased circulating ferritin concentration, Hypochromic microcytic anemia, Osteopetrosis, Throm...	ORPHA:3240
Mccune-Albright Syndrome	Abnormal endocrine physiology, Hyperphosphaturia, Hyperthyroidism, Elevated circulating growth ho...	ORPHA:562
Peroxisome Biogenesis Disorder 1A (Zellweger)	Hypospadias, Albuminuria, Aminoaciduria, Renal cortical microcysts, Hydronephrosis	OMIM:214100
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia	OMIM:613839
Senior-Boichis Syndrome	Thickening of the tubular basement membrane, Portal hypertension, Chronic kidney disease, Renal a...	ORPHA:84081
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Hyponatremia, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Increased circulating dehydr...	OMIM:201810
Monosomy 13Q34	Hypercalcemia, Obesity	ORPHA:96168
Cednik Syndrome	Nephrotic syndrome, Proteinuria	ORPHA:66631
Congenital Enterovirus Infection	Myocarditis, Hyperammonemia, Cardiomyopathy, Hypoalbuminemia, Hypotension	ORPHA:292
Pde4D Haploinsufficiency Syndrome	Elevated circulating parathyroid hormone level, Hypospadias, Hypotension	ORPHA:439822
Systemic Sclerosis	Renal insufficiency, Proteinuria, Abnormality of the kidney, Glomerulonephritis, Chronic kidney d...	ORPHA:90291
Otopalatodigital Syndrome Type 1	Increased bone mineral density, Abnormal vertebral segmentation and fusion, Limitation of joint m...	ORPHA:90650
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Increased bone mineral density, Osteopetrosis, Decreased body weight	OMIM:617306
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Tachycardia, Syncope, Premature ventricular contraction	OMIM:192445
Rabson-Mendenhall Syndrome	Long penis, Nephrocalcinosis, Cardiomyopathy, Hypokalemia, Increased C-peptide level	ORPHA:769
Osteopetrosis, Autosomal Recessive 6	Osteopetrosis	OMIM:611497
Paroxysmal Nocturnal Hemoglobinuria	Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym...	ORPHA:447
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Tachycardia, Syncope, Palpitations, Hypertrophic cardiomyopathy, Increased C-peptide level	ORPHA:276580
Zollinger-Ellison Syndrome	Increased urinary cortisol level, Gastrointestinal hemorrhage, Hyperparathyroidism, Hypercalcemia...	ORPHA:913
Spondyloepiphyseal Dysplasia Tarda	Increased bone mineral density, Osteoarthritis of the distal interphalangeal joint, Abnormally os...	ORPHA:93284
Lethal Recessive Chondrodysplasia	Generalized osteosclerosis	ORPHA:1423
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Tachycardia, Hypoproteinemia	OMIM:221400
Ileal Neuroendocrine Tumor	Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Small intestine carcinoid, Pal...	ORPHA:100078
Chondrodysplasia, Blomstrand Type	Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification	OMIM:215045
Igg4-Related Kidney Disease	Renal insufficiency, Proteinuria, Renal interstitial immunoglobulin deposits, Urinary bladder inf...	ORPHA:449395
Preeclampsia	Chronic kidney disease, Acute kidney injury, Proteinuria, Abnormality of the kidney	ORPHA:275555
Chromosome 5Q12 Deletion Syndrome	Hypotension	OMIM:615668
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Tachycardia, Ventricular septal defect, Retinal hemorrhage, Hypertension, Bradycardia	OMIM:614653
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency	Myoglobinuria, Renal insufficiency	ORPHA:2364
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,...	OMIM:105650
Syndromic Diarrhea	Small for gestational age, Increased mean platelet volume, Splenomegaly, Hypoplasia of the thymus...	ORPHA:84064
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Hypertriglyceridemia...	OMIM:619573
Adenohypophysitis	Hyponatremia, Orthostatic hypotension, Decreased circulating cortisol level, Reduced circulating ...	ORPHA:95512
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hyperornithinemia, Respiratory alkalosis, Abnormal circulating citrulline concentration, Hyperamm...	ORPHA:415
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Failure to thrive, Hypercalcemia	ORPHA:476126
Orthostatic Hypotension 2	Orthostatic hypotension	OMIM:618182
Complete Atrioventricular Septal Defect	Abnormal EKG, Tachycardia, Left-to-right shunt, Right ventricular failure, Cardiomegaly, Third he...	ORPHA:1329
Congenital Left Ventricular Aneurysm	Congestive heart failure, Abnormal ST segment, Abnormal left ventricle morphology, Abnormal T-wav...	ORPHA:1055
Hereditary Pulmonary Alveolar Proteinosis	Abnormal circulating protein concentration, Foam cells, Tachycardia, Elevated carcinoembryonic an...	ORPHA:264675
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Tachycardia, Ventricular septal defect, Hypertension, Atrial septal defect, Micropenis	OMIM:613870
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Ventricular septal defect, Mitral atresia, Portal hypertension, Unilateral renal agenesis, Ascend...	OMIM:619503
Ring Chromosome 10 Syndrome	Hypocalcemia, Cachexia	ORPHA:1438
Neuroendocrine Tumor Of Stomach	Tricuspid regurgitation, Right ventricular failure, Hematemesis, Increased circulating ACTH level...	ORPHA:100075
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T...	OMIM:104200
Fragile X-Associated Tremor/Ataxia Syndrome	Pollakisuria, Hypertension, Hypotension, Urinary bladder sphincter dysfunction, Hypothyroidism	ORPHA:93256
Idiopathic Hypereosinophilic Syndrome	Myelofibrosis, Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatosp...	ORPHA:3260
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ...	OMIM:615616
Pearson Marrow-Pancreas Syndrome	Hypercalciuria, 3-Methylglutaric aciduria, Renal Fanconi syndrome, Complex organic aciduria, Hype...	OMIM:557000
Hypothyroidism Due To Tsh Receptor Mutations	Bradycardia, Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia	ORPHA:90673
Prolactinoma	Hypogonadotropic hypogonadism, Female hypogonadism, Elevated circulating growth hormone concentra...	ORPHA:2965
Vipoma	Diabetes mellitus, Hypercalcemia, Follicular thyroid carcinoma, Elevated circulating growth hormo...	ORPHA:97282
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Tachycardia, Ventricular septal defect, Elevated circulating creatine kina...	ORPHA:26793
Panhypophysitis	Hyponatremia, Orthostatic hypotension, Decreased circulating cortisol level, Reduced circulating ...	ORPHA:95513
Multiple Endocrine Neoplasia, Type I	Hypercalcemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, ...	OMIM:131100
Paget Disease Of Bone 3	Fractures of the long bones, Osteolysis, Patchy osteosclerosis	OMIM:167250
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Nephropathy, Nephrotic syndrome, Proteinuria	ORPHA:1192
Encephalitis Lethargica	Urinary incontinence, Bradycardia	ORPHA:83600
Dopamine Beta-Hydroxylase Deficiency	Elevated circulating creatinine concentration, Anemia, Increased blood urea nitrogen	ORPHA:230
Cardiomyopathy, Dilated, 1Y	Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact...	OMIM:611878
Diastrophic Dysplasia	Joint hyperflexibility, Increased bone mineral density, Camptodactyly of finger, Joint stiffness	ORPHA:628
Idiopathic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Stage 5...	ORPHA:567548
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis	OMIM:610205
Osteopetrosis, Autosomal Recessive 3	Extramedullary hematopoiesis, Cranial hyperostosis, Diaphyseal sclerosis, Hepatosplenomegaly, Ost...	OMIM:259730
Mixed-Type Autoimmune Hemolytic Anemia	Abnormal urinary color, Tachycardia, Increased total bilirubin	ORPHA:90036
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Thrombocytosis, Leukocytosis, Failure to thrive, Hypochromic anemia	OMIM:618213
Nephrotic Syndrome, Type 11	Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn...	OMIM:616730
Elliptocytosis 2	Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis	OMIM:130600
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia	OMIM:616649
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl...	ORPHA:1686
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Increased m...	OMIM:277410
Yellow Fever	Shock, Renal insufficiency, Anuria, Elevated circulating creatine kinase concentration, Supravent...	ORPHA:99829
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Oste...	ORPHA:289176
Acute Liver Failure	Thrombocytopenia, Acidosis, Hyperammonemia, Alkalosis	ORPHA:90062
Hypotonia-Cystinuria Syndrome	Failure to thrive, Hypocalcemia	OMIM:606407
Hereditary Pheochromocytoma-Paraganglioma	Hypercalcemia, Weight loss	ORPHA:29072
Oncogenic Osteomalacia	Renal phosphate wasting, Hyperphosphaturia, Hypocalcemia, Hypophosphatemia	ORPHA:352540
Pigmented Nodular Adrenocortical Disease, Primary, 2	Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame...	OMIM:610475
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Delayed patellar ossification, Increased bone mineral density, Abnormal bone ossification	ORPHA:163649
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Renal insufficiency, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial ne...	ORPHA:228302
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Increased skull ossification, Craniofacial osteosclerosis, Diaphyseal sclerosis, Osteopetrosis, H...	OMIM:618476
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hyponatremia, Hypokalemia	OMIM:618426
Combined Oxidative Phosphorylation Defect Type 39	Bradycardia	ORPHA:565624
Multicentric Carpotarsal Osteolysis Syndrome	Bilateral renal atrophy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease	OMIM:166300
Pseudohypoparathyroidism Type 1C	Calcinosis, Increased bone mineral density, Obesity, Hyperphosphatemia, Hypocalcemia, Hypocalcemi...	ORPHA:79444
Pseudohypoparathyroidism Type 1A	Calcinosis, Increased bone mineral density, Obesity, Reduced bone mineral density, Hyperostosis f...	ORPHA:79443
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Proteinuria, Stage 5 chronic kidney disease	OMIM:219900
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Rig...	ORPHA:99103
Pure Autonomic Failure	Anhidrosis, Orthostatic hypotension, Dysuria, Urinary incontinence, Abnormality of circulating ca...	ORPHA:441
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Sclerosis of mi...	ORPHA:85188
Cogan Syndrome	Thrombocytosis, Leukocytosis, Anemia	ORPHA:1467
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hypocalcemic seizures, Hypocalcemia, Patchy osteosclerosis, Hyperphosphatemia	OMIM:241410
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease	Nephropathy, Proteinuria, Renal artery stenosis	OMIM:209010
Galloway-Mowat Syndrome 10	Diffuse mesangial sclerosis, Podocyte foot process effacement, Proteinuria, Stage 5 chronic kidne...	OMIM:619609
Aggressive Systemic Mastocytosis	Hypotension, Gastrointestinal hemorrhage, Portal hypertension	ORPHA:98850
Myh9-Related Disease	Nephropathy, Renal insufficiency, Proteinuria, Nephritis	ORPHA:182050
Galloway-Mowat Syndrome 4	Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Stage 5 chronic kidney d...	OMIM:617730
Isolated Permanent Neonatal Diabetes Mellitus	Ketonuria, Abnormality of the upper urinary tract, Renal tubular dysfunction, Glycosuria, Moderat...	ORPHA:99885
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary...	ORPHA:79404
Porphyria Variegata	Hyponatremia, Tachycardia, Neurogenic bladder, Abnormal circulating porphyrin concentration, Chro...	ORPHA:79473
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Joint hypermobility, Thrombocytopenia, Red...	OMIM:617052
Shwachman-Diamond Syndrome	Osteopenia, Normocytic anemia, Macrocytic anemia, Osteomyelitis, Aplastic anemia, Transient neutr...	ORPHA:811
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Hypotension	ORPHA:79456
Glucagonoma	Normochromic anemia, Weight loss, Hypercalcemia, Acanthocytosis	ORPHA:97280
Dysosteosclerosis	Craniofacial hyperostosis, Increased bone mineral density, Recurrent fractures, Coarse metaphysea...	ORPHA:1782
Frasier Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc...	ORPHA:347
Isolated Thyroid-Stimulating Hormone Deficiency	Hypercholesterolemia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Brad...	ORPHA:90674
Acth-Independent Macronodular Adrenal Hyperplasia	Adrenal hyperplasia, Decreased circulating ACTH concentration, Hypertension, Increased circulatin...	OMIM:219080
Distal 16P11.2 Microdeletion Syndrome	Renal agenesis, Abnormality of the kidney, Proteinuria, Chronic kidney disease, Vesicoureteral re...	ORPHA:261222
Somatostatinoma	Hypercalcemia, Hypochromic microcytic anemia, Weight loss	ORPHA:97283
Nephrotic Syndrome, Type 1	Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Ren...	OMIM:256300
Pigmented Nodular Adrenocortical Disease, Primary, 4	Diabetes mellitus, Adrenal hyperplasia, Hypertension, Increased circulating cortisol level, Prima...	OMIM:615830
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun...	ORPHA:75565
46,Xy Sex Reversal 4	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:154230
Brugada Syndrome 8	Right bundle branch block, ST segment elevation, Ventricular tachycardia	OMIM:613123
Porphyria, Acute Intermittent	Tachycardia, Dysuria, Urinary incontinence, Hypertension, Urinary retention, Elevated urinary del...	OMIM:176000
Diamond-Blackfan Anemia 7	Osteopenia, Macrocytic anemia, Osteoporosis, Increased mean corpuscular volume, Neutropenia	OMIM:612562
Renal Nutcracker Syndrome	Orthostatic hypotension, Tachycardia, Proteinuria, Hematuria, Syncope, Renal artery stenosis, Mic...	ORPHA:71273
Atrial Septal Defect, Coronary Sinus Type	Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo...	ORPHA:99104
Galloway-Mowat Syndrome 6	Nephrotic syndrome, Proteinuria, Focal segmental glomerulosclerosis	OMIM:618347
Leiomyomatosis, Diffuse, With Alport Syndrome	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne...	OMIM:308940
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Myoglobinuria	OMIM:602199
Williams Syndrome	Hypoplasia of penis, Bicuspid aortic valve, Elevated circulating creatine kinase concentration, M...	ORPHA:904
Williams-Beuren Syndrome	Bicuspid aortic valve, Nephrocalcinosis, Vesicoureteral reflux, Atrial septal defect, Micropenis,...	OMIM:194050
Pycnodysostosis	Joint laxity, Increased bone mineral density, Overweight, Generalized osteosclerosis, Increased s...	ORPHA:763
Leptospirosis	Pericarditis, First degree atrioventricular block, Cellular urinary casts, Retinal hemorrhage, Su...	ORPHA:509
Short Qt Syndrome 3	Shortened QT interval, Tachycardia, Palpitations	OMIM:609622
Mirage Syndrome	Hyponatremia, Recurrent urinary tract infections, Hypospadias, Hyperkalemia, Intracranial hemorrh...	OMIM:617053
Reni Syndrome	Diffuse mesangial sclerosis, Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney dise...	OMIM:617575
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Proteinuria, Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Glycosuria, Nephropathy	OMIM:613404
Proximal Spinal Muscular Atrophy	Atrial septal defect, Bradycardia	ORPHA:70
Acute Radiation Syndrome	Hypotension, Telangiectasia	ORPHA:454831
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Thrombocytopenia, Osteoporosis, Leukopenia, Increased mean corpuscular volume, L...	OMIM:127550
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Proteinuria, Chronic kidney disease, Thickened glomerular basement membrane, Proximal renal tubul...	OMIM:146255
Dyschondrosteosis-Nephritis Syndrome	Hematuria, Nephropathy, Proteinuria	ORPHA:1765
Acquired Methemoglobinemia	Tachycardia, Syncope, Palpitations, Arrhythmia	ORPHA:464453
Gaucher Disease Type 3	Increased bone mineral density, Pancytopenia, Splenomegaly, Osteolysis, Increased susceptibility ...	ORPHA:77261
Cockayne Syndrome Type 1	Anemia, Increased blood urea nitrogen	ORPHA:90321
Autoimmune Hemolytic Anemia, Warm Type	Congestive heart failure, Tachycardia, Abnormal urinary color	ORPHA:90033
Alport Syndrome 1, X-Linked	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Thickened glomerular ...	OMIM:301050
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Splenomegaly, Hypocalcemic seizures, Osteopetrosis, Anemia	OMIM:612301
Neuroendocrine Neoplasm Of Appendix	Tricuspid stenosis, Heart murmur, Adrenocorticotropic hormone excess, Palpitations, Increased ser...	ORPHA:100079
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Joint laxity, Pancytopenia, Small for gestational age, Rickets, Reduced bone mineral ...	OMIM:613658
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Elevated circulating creatinine concentration, Elevated circulating C-reactive...	ORPHA:49041
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Increased bone mineral density, Thin bony cortex	ORPHA:85184
Acute Intermittent Porphyria	Hyponatremia, Dark urine, Tachycardia, Renal insufficiency, Urinary incontinence, Dysuria, Porphy...	ORPHA:79276
Autoimmune Polyendocrinopathy Type 1	Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc...	ORPHA:3453
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:223900
Pseudohypoparathyroidism, Type Ia	Osteoporosis, Obesity, Subcutaneous ossification, Hyperphosphatemia, Hypocalcemic tetany	OMIM:103580
Hyperthyroidism, Familial Gestational	Tachycardia	OMIM:603373
Alport Syndrome	Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo...	ORPHA:63
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hemolytic anemia, Conjugated hyperbilirubinemia, Splenomegaly, Hyperkalemia, Stomatocytosis	OMIM:608885
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Proteinuria, Abnormality of the kidney	ORPHA:369
Familial Isolated Hypoparathyroidism	Hypocalcemia	ORPHA:2238
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,...	ORPHA:436271
Autoinflammatory-Pancytopenia Syndrome	Membranoproliferative glomerulonephritis, Proteinuria	OMIM:619858
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Osteopenia, Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Os...	OMIM:112250
Osteopathia Striata-Cranial Sclerosis Syndrome	Facial hyperostosis, Increased bone mineral density, Osteopetrosis, Coarse metaphyseal trabecular...	ORPHA:2780
Gaucher Disease	Osteopenia, Increased bone mineral density, Osteomyelitis, Pancytopenia, Recurrent fractures, Ele...	ORPHA:355
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Anuria, Myocarditis, Hyperkalemia, Oliguria, Hypertension, Hypocalcemia, Acute kidn...	ORPHA:544482
Galloway-Mowat Syndrome 7	Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn...	OMIM:618348
Craniometaphyseal Dysplasia	Craniofacial hyperostosis, Osteopetrosis	ORPHA:1522
Osteopetrosis With Renal Tubular Acidosis	Pancytopenia, Recurrent fractures, Elevated circulating creatine kinase concentration, Thrombocyt...	ORPHA:2785
Desmosterolosis	Splenomegaly, Increased bone mineral density, Failure to thrive, Osteopetrosis	ORPHA:35107
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Tachycardia, Proteinuria, Abnormal circulating fatty-acid concentration, Renal Fanconi syndrome, ...	ORPHA:263455
Sanjad-Sakati Syndrome	Hyperphosphatemia, Hypocalcemia, Patchy osteosclerosis	ORPHA:2323
Sarcoidosis	Hemolytic anemia, Hypercalcemia, Eosinophilia, Thrombocytopenia, Increased T cell count, Bone cys...	ORPHA:797
Pheochromocytoma/Paraganglioma Syndrome 3	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:605373
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Decreased circulating cortisol level, Adrenal hyperplasia, Hyperkalemia, Increased ...	ORPHA:90790
Familial Idiopathic Dilatation Of The Right Atrium	Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial fibrillation, A...	ORPHA:1677
Ppoma	Hypercalcemia, Weight loss	ORPHA:97278
Neuraminidase Deficiency	Increased urinary O-linked sialopeptides, Urinary excretion of sialylated oligosaccharides, Prote...	OMIM:256550
Eisenmenger Syndrome	Elevated circulating C-reactive protein concentration, Ventricular tachycardia, Aortopulmonary wi...	ORPHA:97214
Poliomyelitis	Hypertension, Hypovolemic shock, Hypotension	ORPHA:2912
Fructose Intolerance, Hereditary	Gastrointestinal hemorrhage, Transient aminoaciduria, Hyperphosphaturia, Bicarbonaturia, Proximal...	OMIM:229600
Paroxysmal Cold Hemoglobinuria	Abnormal urinary color, Hemoglobinuria	ORPHA:90035
Werner Syndrome	Increased bone mineral density, Osteoporosis, Slender build, Joint stiffness	ORPHA:902
Bohring-Opitz Syndrome	Cardiomegaly, Abnormal cardiac septum morphology, Urinary retention, Bradycardia, Nephroblastoma	ORPHA:97297
Hennekam-Beemer Syndrome	Arrhythmia, Telangiectasia of the skin, Hypotension	ORPHA:2135
Congenital Fibrinogen Deficiency	Tachycardia, Left ventricular hypertrophy, Micropenis, Internal hemorrhage, Right ventricular hyp...	ORPHA:335
Erdheim-Chester Disease	Increased bone mineral density, Osteomyelitis, Osteolysis, Weight loss, Anemia	ORPHA:35687
12Q14 Microdeletion Syndrome	Abnormality of the spleen, Osteopoikilosis, Failure to thrive	ORPHA:94063
Beckwith-Wiedemann Syndrome	Ureteral duplication, Adrenocortical cytomegaly, Elevated circulating alpha-fetoprotein concentra...	ORPHA:116
Becker Muscular Dystrophy	Abnormal urinary color, Myoglobinuria	ORPHA:98895
3-Methylglutaconic Aciduria, Type Viii	3-Methylglutaric aciduria, 3-Methylglutaconic aciduria, Bradycardia	OMIM:617248
Alexander Disease	Diabetes mellitus, Sudden cardiac death, Precocious puberty, Hyperhidrosis, Hypertension, Hypoten...	ORPHA:58
Hypothyroidism, Congenital, Nongoitrous, 2	Increased circulating thyroglobulin level, Bradycardia, Hyperbilirubinemia	OMIM:218700
Absence Of The Pulmonary Artery	Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation, Cardiomegaly, Congestive heart fa...	ORPHA:980
Paroxysmal Nocturnal Hemoglobinuria 2	Paroxysmal nocturnal hemoglobinuria	OMIM:615399
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Moderate albuminuria, Hydronephrosis	OMIM:619269
Pulmonary Hypertension, Primary, 4	Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs...	OMIM:615344
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Hypospadias, Glomerulonephritis, Proteinuria, Nephrotic syndrome, Glomerular sclerosis	OMIM:619428
Autosomal Recessive Malignant Osteopetrosis	Recurrent fractures, Craniosynostosis, Splenomegaly, Reduced bone mineral density, Osteopetrosis,...	ORPHA:667
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d...	OMIM:120330
Oligomeganephronia	Renal insufficiency, Proteinuria, Unilateral renal agenesis, Abnormal renal cortex morphology, Gl...	ORPHA:2260
Congenital Disorder Of Glycosylation, Type It	Tachycardia, Ventricular septal defect, Elevated circulating creatine kinase concentration, Sudde...	OMIM:614921
Desmosterolosis	Failure to thrive, Generalized osteosclerosis, Abnormal circulating cholesterol concentration, Ar...	OMIM:602398
Congenital Disorder Of Glycosylation, Type Iif	Aminoaciduria, Proteinuria	OMIM:603585
Abnormal Hair, Joint Laxity, And Developmental Delay	Mitral regurgitation, Tricuspid regurgitation, Sinus bradycardia	OMIM:261990
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,...	OMIM:220110
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Increased susceptibility to fractures, Sc...	OMIM:224300
Grfoma	Gastrointestinal hemorrhage, Hypercalcemia, Elevated circulating growth hormone concentration, Ne...	ORPHA:97261
Free Sialic Acid Storage Disease	Nephrotic syndrome, Proteinuria	ORPHA:834
Pigmented Nodular Adrenocortical Disease, Primary, 3	Increased circulating cortisol level, Adrenal hyperplasia	OMIM:614190
Familial Dysautonomia	Hyponatremia, Glomerulopathy, Orthostatic hypotension, Tachycardia, Renal insufficiency, Abnormal...	ORPHA:1764
Autosomal Dominant Kenny-Caffey Syndrome	Anemia, Cortical thickening of long bone diaphyses, Hyperphosphatemia, Hypocalcemic tetany, Decre...	ORPHA:93325
Schimmelpenning-Feuerstein-Mims Syndrome	Hypophosphatemic rickets, Hyperphosphaturia, Precocious puberty, Horseshoe kidney	OMIM:163200
Tricho-Dento-Osseous Syndrome	Increased bone mineral density	ORPHA:3352
Aromatic L-Amino Acid Decarboxylase Deficiency	Hypotension, Hyperhidrosis	OMIM:608643
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Proteinuria, Glomerulonephritis, Stage 5 chronic kidney disease, Renal hypoplasia, Chronic tubulo...	OMIM:614376
Pheochromocytoma/Paraganglioma Syndrome 4	Tachycardia, Elevated urinary catecholamine level, Renal cell carcinoma, Palpitations, Hypertensi...	OMIM:115310
Cutis Laxa, Autosomal Recessive, Type Ib	Aortic root aneurysm, Bradycardia, Pulmonary artery aneurysm, Pulmonary artery dilatation, Pulmon...	OMIM:614437
Congenital Disorder Of Glycosylation, Type Ig	Failure to thrive, Small for gestational age, Hypocalcemia	OMIM:607143
Bangstad Syndrome	Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri...	ORPHA:1227
Renal Agenesis	Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A...	ORPHA:411709
Trichothiodystrophy	Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis, Increa...	ORPHA:33364
Mccune-Albright Syndrome	Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio...	OMIM:174800
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Nephropathy, Proteinuria	ORPHA:2774
Cystic Fibrosis	Pancreatitis, Hypercalciuria, Steatorrhea, Exocrine pancreatic insufficiency	OMIM:219700
Fructose-1,6-Bisphosphatase Deficiency	Tachycardia, Increased urinary glycerol	OMIM:229700
Myotonic Dystrophy 2	Tachycardia, Elevated circulating creatine kinase concentration, Premature ventricular contractio...	OMIM:602668
Stevens-Johnson Syndrome	Anemia, Hypokalemic metabolic alkalosis, Thrombocytopenia, Abnormality of neutrophils	ORPHA:36426
Schwartz-Jampel Syndrome	Hip contracture, Increased bone mineral density, Abnormally ossified vertebrae, Shoulder flexion ...	ORPHA:800
Systemic Mastocytosis With Associated Hematologic Neoplasm	Tachycardia, Syncope, Hypotension	ORPHA:98849
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Hematuria, Tubulointerstitial nephritis, Proteinuria	OMIM:616901
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Nephrocalcinosis, Hypercalciuria, Renal dysplasia	OMIM:300990
Renal Hypodysplasia/Aplasia 1	Bilateral renal agenesis, Proteinuria, Renal dysplasia	OMIM:191830
Periodic Fever, Menstrual Cycle-Dependent	Increased circulating cortisol level	OMIM:614674
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular sep...	ORPHA:137675
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Splenomegaly, Osteopetrosis	OMIM:618541
Phosphoglycerate Kinase 1 Deficiency	Renal insufficiency, Exercise-induced myoglobinuria	OMIM:300653
Pauci-Immune Glomerulonephritis	Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i...	ORPHA:93126
Cartilage-Hair Hypoplasia	Abnormally ossified vertebrae, Neutropenia, Joint hyperflexibility, Hypocalcemia, Abnormal bone o...	ORPHA:175
Pheochromocytoma/Paraganglioma Syndrome 1	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:168000
Dysostosis, Stanescu Type	Massively thickened long bone cortices, Increased bone mineral density	ORPHA:1798
Dahlberg-Borer-Newcomer Syndrome	Hypocalcemia	ORPHA:1563
Otopalatodigital Syndrome Type 2	Increased bone mineral density, Failure to thrive, Camptodactyly of finger, Tarsal synostosis, Ca...	ORPHA:90652
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Paroxysmal nocturnal hemoglobinuria	OMIM:612300
Osteogenesis Imperfecta	Aortic regurgitation, Abnormal endocardium morphology, Cerebral hemorrhage, Nephrolithiasis, Hype...	ORPHA:666
Raine Syndrome	Arthrogryposis multiplex congenita, Increased bone mineral density, Subperiosteal bone formation,...	OMIM:259775
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Myoglobinuria, Dicarboxylic aciduria	OMIM:231530
Combined Oxidative Phosphorylation Deficiency 39	Sinus bradycardia	OMIM:618397
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Elevated circulating C-reactive protein concentration, Elevated circulating cr...	ORPHA:91500
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Myoglobinuria	ORPHA:119
Cryoglobulinemic Vasculitis	Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria	ORPHA:91138
Papa Syndrome	Proteinuria	ORPHA:69126
Non-Acquired Panhypopituitarism	Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Ant...	ORPHA:90695
Donnai-Barrow Syndrome	Proteinuria	ORPHA:2143
Immunodeficiency 96	Increased proportion of gamma-delta T cells, Increased mean corpuscular volume	OMIM:619774
Coenzyme Q10 Deficiency, Primary, 1	Proteinuria, Recurrent myoglobinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Glo...	OMIM:607426
Ispd-Related Limb-Girdle Muscular Dystrophy R20	Exercise-induced myoglobinuria	ORPHA:352479
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Abnormal circulating thyroglobulin level, Bradycardia	ORPHA:226307
Leukocyte Adhesion Deficiency	Acute myeloid leukemia, Osteomyelitis, Leukocytosis, Abnormality of neutrophil physiology, Impair...	ORPHA:2968
Mitochondrial Trifunctional Protein Deficiency	Failure to thrive in infancy, Hypocalcemia	ORPHA:746
Hereditary Angioedema Type 1	Hypotension	ORPHA:100050
Hyperoxaluria, Primary, Type I	Pathologic fracture, Increased bone mineral density, Hyperoxaluria	OMIM:259900
Ddost-Cdg	Nephrotic range proteinuria	ORPHA:300536
Arima Syndrome	Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Renal corticomedu...	OMIM:243910
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Moderate albuminuria	OMIM:614231
Pediatric Systemic Lupus Erythematosus	Dark urine, Renal insufficiency, Proteinuria, Hematuria, Nephrotic syndrome, Abnormality of the u...	ORPHA:93552
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Splenomegaly, Hypoproteinemia, Hypocalcemia	OMIM:235255
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Renal insufficiency, Proteinuria, Hemolytic-uremic syndrome, Cystathioninuria, Methylmalonic acid...	OMIM:277400
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Myoglobinuria, Renal insufficiency	ORPHA:713
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hyperextensibility of the finger joints, Thrombocytopenia, Hypocalcemia, Hyperbilirubinemia, Anemia	ORPHA:163979
Truncus Arteriosus	Aortic regurgitation, Atrial septal defect, Tachycardia, Ventricular septal defect, Anomalous ori...	ORPHA:3384
Sarcoidosis, Susceptibility To, 1	Pericardial effusion, Pulmonary arterial hypertension, Hypercalciuria	OMIM:181000
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Achalasia, Ineffective esophageal peristalsis, Urinary incontinence, Sinus bradycardia	OMIM:619482
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Proteinuria, Chronic kidney disease, Tubulointerstitial nephritis, Nephrotic syndrome, Decreased ...	ORPHA:488627
Lenz-Majewski Hyperostotic Dwarfism	Increased bone mineral density, Cranial hyperostosis, Limitation of joint mobility, Joint hyperfl...	ORPHA:2658
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Thrombocytopenia	ORPHA:261250
Congenital Disorder Of Glycosylation, Type Iiw	Moderate albuminuria, Membranoproliferative glomerulonephritis, Microscopic hematuria	OMIM:619525
Fabry Disease	Urinary mulberry cells, Renal insufficiency, Proteinuria, Lipiduria	OMIM:301500
Distal Limb Deficiencies-Micrognathia Syndrome	Renal insufficiency, Proteinuria, Renal hypoplasia	ORPHA:1307
Schimke Immuno-Osseous Dysplasia	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g...	ORPHA:1830
Glycogen Storage Disease Ixd	Exercise-induced myoglobinuria	OMIM:300559
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Splenomegaly, Hypoproteinemia, Hypocalcemia, Hepatosplenomegaly	ORPHA:1655
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc...	OMIM:254900
Hypocomplementemic Urticarial Vasculitis	Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria	ORPHA:36412
Generalized Arterial Calcification Of Infancy	Medial calcification of large arteries, Cardiomegaly, Medial calcification of medium-sized arteri...	ORPHA:51608
Pseudo-Torch Syndrome 3	Acute kidney injury, Proteinuria	OMIM:618886
Opsismodysplasia	Renal phosphate wasting, Hypophosphatemia	OMIM:258480
Severe Oculo-Renal-Cerebellar Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria	ORPHA:2715
Pycnodysostosis	Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand	OMIM:265800
Cushing Disease	Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c...	ORPHA:96253
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, T lymphocytopenia, Coombs-positive ...	ORPHA:83471
Atypical Werner Syndrome	Sclerosis of hand bone, Increased bone mineral density, Hypertriglyceridemia, Limitation of joint...	ORPHA:79474
Lymphedema-Distichiasis Syndrome	Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Tubulointerstitial nephritis, Re...	ORPHA:33001
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Abnormal penis morphology, Dysuria, Renal tubular epithelial necrosis, Hematuria, Moderate albumi...	ORPHA:95455
Vascular Ehlers-Danlos Syndrome	Hypospadias, Telangiectasia of the skin, Transient ischemic attack, Cystocele, Renovascular hyper...	ORPHA:286
Diffuse Alveolar Hemorrhage	Hematuria, Proteinuria	ORPHA:90060
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro...	OMIM:137920
Doors Syndrome	Thrombocytosis, Sagittal craniosynostosis	ORPHA:79500
Malignant Hyperthermia, Susceptibility To, 5	Tachycardia	OMIM:601887
Combined Pituitary Hormone Deficiencies, Genetic Forms	Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Ant...	ORPHA:95494
Mirizzi Syndrome	Dark urine, Tachycardia, Hyperbilirubinemia	ORPHA:521219
Ohdo Syndrome	Proteinuria	OMIM:249620
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria	ORPHA:86818
Galloway-Mowat Syndrome	Nephropathy, Nephrotic syndrome, Proteinuria	ORPHA:2065
Malakoplakia	Proteinuria, Dysuria, Urinary bladder inflammation, Urinary urgency, Hematuria, Urinary hesitancy	ORPHA:556
Aicardi-Goutieres Syndrome 9	Recurrent urinary tract infections, Renal insufficiency, Proteinuria, Stage 5 chronic kidney dise...	OMIM:619487
Schimke Immunoosseous Dysplasia	Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclero...	OMIM:242900
Simple Cryoglobulinemia	Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Abnormality of the ki...	ORPHA:91139
Isotretinoin-Like Syndrome	Lymphopenia, Hypocalcemia	ORPHA:2306
Glycogen Storage Disease Vii	Hematuria, Exercise-induced myoglobinuria	OMIM:232800
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hyponatremia, Decreased circulating dehydroepiandrosterone concentration, Decreased circulating c...	OMIM:201750
Mucopolysaccharidosis-Plus Syndrome	Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal tubular atrophy, Nephr...	OMIM:617303
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Hematuria, Proteinuria	OMIM:192315
Sotos Syndrome	Joint laxity, Hip contracture, Hypercalcemia, Ankle flexion contracture, Craniosynostosis, Bilate...	ORPHA:821
Cardiac-Urogenital Syndrome	Tachycardia, Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus enla...	OMIM:618280
Liver Disease, Severe Congenital	Joint laxity, Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circu...	OMIM:619991
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Myoglobinuria	OMIM:620138
Lowe Oculocerebrorenal Syndrome	Renal insufficiency, Hyperphosphaturia, Elevated circulating creatine kinase concentration, Eleva...	OMIM:309000
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	3-Methylglutaconic aciduria, Myoglobinuria, Ketonuria	OMIM:251900
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Myoglobinuria, Red-brown urine	ORPHA:228305
Eosinophilic Granulomatosis With Polyangiitis	Glomerulopathy, Renal insufficiency, Proteinuria, Hematuria, Tubulointerstitial nephritis	ORPHA:183
Hennekam Syndrome	Camptodactyly of finger, Craniosynostosis, Splenomegaly, Hypocalcemia, Lymphopenia	ORPHA:2136
Carney Triad	Gastrointestinal hemorrhage, Hypertension, Tachycardia, Arrhythmia	ORPHA:139411
Carnitine Palmitoyltransferase Ii Deficiency	Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis, Tubulointerst...	ORPHA:157
22Q11.2 Deletion Syndrome	Abnormality of thrombocytes, Splenomegaly, Obesity, Multiple suture craniosynostosis, Joint hyper...	ORPHA:567
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Proteinuria, Multiple bladder diverticula	ORPHA:2728
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal insufficiency, Dicarboxylic aciduria, Red-brown urine, Renal tubular epithelial necrosis, T...	ORPHA:228308
Cushing Syndrome Due To Ectopic Acth Secretion	Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c...	ORPHA:99889
Blomstrand Lethal Chondrodysplasia	Increased bone mineral density, Synostosis of joints	ORPHA:50945
Nail-Patella Syndrome	Renal insufficiency, Proteinuria, Glomerulonephritis, Hematuria, Nephrotic syndrome	OMIM:161200
Glycogen Storage Disease Ia	Proteinuria, Nephrolithiasis, Focal segmental glomerulosclerosis, Decreased glomerular filtration...	OMIM:232200
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Hematuria, Nephropathy	ORPHA:1018
Donnai-Barrow Syndrome	Non-acidotic proximal tubulopathy, Proteinuria	OMIM:222448
Galloway-Mowat Syndrome 3	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Glo...	OMIM:617729
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Mild proteinuria	OMIM:619685
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Decreased response to growth hormone stimulation test, Central diabetes insipidus, ...	ORPHA:293987
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s...	ORPHA:99125
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Dicarboxylic aciduria, Exercise-induced myoglobinuria	OMIM:201475
Nail-Patella Syndrome	Renal insufficiency, Proteinuria, Abnormality of the kidney, Thickened glomerular basement membra...	ORPHA:2614
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Proteinuria, Heparan sulfate excretion in urine, Nephrotic syndrome, Heavy proteinuria, Urinary g...	ORPHA:505248
Cleidocranial Dysplasia 1	Increased bone mineral density, Delayed pubic bone ossification, Increased susceptibility to frac...	OMIM:119600
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Glomerular sclerosis, Nephropathy, Proteinuria	ORPHA:247691
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Renal insufficiency, Mild proteinuria	OMIM:619147
Igg4-Related Thyroid Disease	Hypocalcemia	ORPHA:64744
Martin-Probst Syndrome	Renal insufficiency, Micropenis, Chordee, Proteinuria	OMIM:300519
Goodpasture Syndrome	Anemia, Increased blood urea nitrogen	OMIM:233450
Wagro Syndrome	Nephroblastoma, Proteinuria	OMIM:612469
Spondyloenchondrodysplasia	Hematuria, Chronic kidney disease, Proteinuria	ORPHA:1855
Glycogen Storage Disease Ib	Proteinuria, Nephrolithiasis, Focal segmental glomerulosclerosis, Decreased glomerular filtration...	OMIM:232220
Lymphatic Filariasis	Proteinuria, Glomerulonephritis, Abnormality of the kidney, Hematuria, Nephrotic syndrome, Urethr...	ORPHA:2035
Velocardiofacial Syndrome	Hypocalcemia	OMIM:192430
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Exercise-induced myoglobinuria	OMIM:607155
Galloway-Mowat Syndrome 1	Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmenta...	OMIM:251300
Lysinuric Protein Intolerance	Proteinuria, Glomerulonephritis, Ornithinuria, Argininuria, Tubulointerstitial nephritis, Renal f...	ORPHA:470
Plague	Hematemesis, Tachycardia, Arrhythmia, Hypotension	ORPHA:707
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypocalcemia, Hypocalcemic seizures	ORPHA:2237
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hemoglobinuria	OMIM:194380
Glycogen Storage Disease Ic	Renal insufficiency, Proteinuria, Hematuria, Focal segmental glomerulosclerosis, Decreased glomer...	OMIM:232240
Xfe Progeroid Syndrome	Renal insufficiency, Proteinuria	OMIM:610965
Pure Mitochondrial Myopathy	Recurrent myoglobinuria	ORPHA:254854
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Renal insufficiency, Proteinuria, Chronic kidney disease, Renal cyst, Nephritis	OMIM:208500
Craniofacioskeletal Syndrome	Hypocalcemia	OMIM:300712
Myopathy With Lactic Acidosis, Hereditary	Myoglobinuria	OMIM:255125
Mitochondrial Trifunctional Protein Deficiency 1	Myoglobinuria	OMIM:609015
Imerslund-Gräsbeck Syndrome	Proteinuria	ORPHA:35858
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Myoglobinuria, Dicarboxylic aciduria	ORPHA:71212
Agel Amyloidosis	Proteinuria, Stage 5 chronic kidney disease	ORPHA:85448
Cornelia De Lange Syndrome 1	Hypospadias, Proteinuria, Ectopic kidney, Abnormal renal morphology, Vesicoureteral reflux, Renal...	OMIM:122470
Melas	Nephropathy, Proximal tubulopathy, Proteinuria, Focal segmental glomerulosclerosis	ORPHA:550
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Myoglobinuria, Ketonuria	OMIM:616878
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Hemoglobinuria	OMIM:300908
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Myoglobinuria	ORPHA:206549
Digeorge Syndrome	Splenomegaly, Obesity, Anemia, Hypoplasia of the thymus, Hypocalcemia, Thrombocytopenia	OMIM:188400
Immunoglobulin A Vasculitis	Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria	ORPHA:761
Schinzel-Giedion Midface Retraction Syndrome	Increased density of long bones, Splenopancreatic fusion, Sclerosis of skull base, Failure to thr...	OMIM:269150
Sclerosteosis 1	Facial palsy secondary to cranial hyperostosis, Cortically dense long tubular bones, Sclerotic sc...	OMIM:269500
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Renal tubular acidosis, Myoglobinuria	ORPHA:79240
Fabry Disease	Glomerulopathy, Renal insufficiency, Proteinuria, Hematuria, Nephrotic syndrome, Nephropathy, Abn...	ORPHA:324
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Renal tubular acidosis, Myoglobinuria	ORPHA:264580
Acquired Generalized Lipodystrophy	Proteinuria	ORPHA:79086
Bardet-Biedl Syndrome 20	Micropenis, Proteinuria	OMIM:619471
Systemic Lupus Erythematosus	Hematuria, Proteinuria, Lupus nephritis, Pyuria	ORPHA:536
Familial Mediterranean Fever	Nephrocalcinosis, Nephropathy, Nephrotic syndrome, Proteinuria	ORPHA:342
Insulin-Resistance Syndrome Type B	Proteinuria, Nephritis, Glycosuria	ORPHA:2298
Granulomatosis With Polyangiitis	Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Hematuria, Hydronephrosis	ORPHA:900
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Proteinuria, Nephrolithiasis, Stage 5 chronic kidney disease, Nephrocalcinosis, Enlarged kidney, ...	ORPHA:79259
Holoprosencephaly	Hypoplasia of penis, Abnormality of the urinary system, Proteinuria	ORPHA:2162
Pierson Syndrome	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp...	OMIM:609049
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal t...	OMIM:614748
Cockayne Syndrome	Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilateral renal agen...	ORPHA:191
Orofaciodigital Syndrome Type 1	Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Hydronephrosis	ORPHA:2750
Aymé-Gripp Syndrome	Proteinuria	ORPHA:1272
Relapsing Polychondritis	Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria	ORPHA:728
Carney Complex	Euthyroid multinodular goiter, Follicular thyroid carcinoma, Elevated circulating growth hormone ...	ORPHA:1359
Johanson-Blizzard Syndrome	Joint laxity, Small for gestational age, Increased VLDL cholesterol concentration, Conjugated hyp...	OMIM:243800
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Joint laxity, Hypocalcemia	OMIM:620330
Orofaciodigital Syndrome I	Proteinuria, Polycystic kidney dysplasia	OMIM:311200
Cockayne Syndrome B	Renal insufficiency, Micropenis, Proteinuria	OMIM:133540
Cockayne Syndrome A	Renal insufficiency, Micropenis, Proteinuria	OMIM:216400
Postinfectious Vasculitis	Hematuria, Membranoproliferative glomerulonephritis, Proteinuria, Glomerulonephritis	ORPHA:48435
Glycogen Storage Disease Xii	Hemoglobinuria	OMIM:611881
Kawasaki Disease	Proteinuria, Sterile pyuria	ORPHA:2331
Charge Syndrome	Lymphopenia, Hypocalcemia	OMIM:214800
Mandibuloacral Dysplasia Progeroid Syndrome	Focal segmental glomerulosclerosis, Proteinuria	OMIM:619127
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Proteinuria	OMIM:616682
Pmm2-Cdg	Nephrotic syndrome, Proteinuria, Multiple renal cysts, Abnormal renal tubule morphology	ORPHA:79318

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 Stk39

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 Stk39.

There are 2 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Stk39^{tm1a(EUCOMM)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Stk39^{tm1a(EUCOMM)Wtsi}	PMC6459510

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
Stk39^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, 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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