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Gene: Gatm MGI:1914342

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Gene Summary

Name:
glycine amidinotransferase (L-arginine:glycine amidinotransferase)
Synonyms:
1810003P21Rik

Order Alleles

IMPC Data Collections

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 System Allele Zyg Sex Life Stage P Value
decreased respiratory quotient Gatmtm1b(KOMP)Wtsi HOM   Early adult 6.10×10-06
decreased food intake Gatmtm1b(KOMP)Wtsi HOM   Early adult 7.87×10-07
increased mean corpuscular hemoglobin Gatmtm1b(KOMP)Wtsi HOM Early adult 1.71×10-07
decreased prepulse inhibition Gatmtm1b(KOMP)Wtsi HOM   Early adult 6.38×10-06
decreased heart rate Gatmtm1b(KOMP)Wtsi HOM Early adult 3.34×10-07
male infertility Gatmtm1b(KOMP)Wtsi HOM Early adult 0.00
decreased locomotor activity Gatmtm1b(KOMP)Wtsi HOM   Early adult 4.44×10-08
decreased circulating cholesterol level Gatmtm1b(KOMP)Wtsi HOM Early adult 5.25×10-05
prolonged RR interval Gatmtm1b(KOMP)Wtsi HOM Early adult 3.52×10-14
female infertility Gatmtm1b(KOMP)Wtsi HOM Early adult 0.00
decreased exploration in new environment Gatmtm1b(KOMP)Wtsi HOM   Early adult 2.45×10-06
abnormal sinus arrhythmia Gatmtm1b(KOMP)Wtsi HOM Early adult 1.46×10-25
cardiovascular system phenotype Gatmtm1b(KOMP)Wtsi HOM Early adult 3.26×10-21
increased circulating amylase level Gatmtm1b(KOMP)Wtsi HOM Early adult 2.09×10-07
decreased red blood cell distribution width Gatmtm1b(KOMP)Wtsi HOM Early adult 8.25×10-09
increased circulating aspartate transaminase level Gatmtm1b(KOMP)Wtsi HOM   Early adult 4.93×10-06
decreased grip strength Gatmtm1b(KOMP)Wtsi HOM Early adult 1.39×10-23
thrombocytopenia Gatmtm1b(KOMP)Wtsi HOM Early adult 2.14×10-08
increased circulating potassium level Gatmtm1b(KOMP)Wtsi HOM Early adult 5.58×10-06
decreased circulating alkaline phosphatase level Gatmtm1b(KOMP)Wtsi HOM Early adult 5.07×10-32
increased heart rate variability Gatmtm1b(KOMP)Wtsi HOM Early adult 4.91×10-24
abnormal QT variability Gatmtm1b(KOMP)Wtsi HOM Early adult 5.46×10-09
prolonged QT interval Gatmtm1b(KOMP)Wtsi HOM Early adult 9.78×10-09
prolonged ST segment Gatmtm1b(KOMP)Wtsi HOM Early adult 4.35×10-06
prolonged QRS complex duration Gatmtm1b(KOMP)Wtsi HOM Early adult 1.58×10-05

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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.

Electrocardiogram (ECG)

Waveform Image

22 Images

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Human diseases caused by Gatm 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.

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Fanconi Renotubular Syndrome 1
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... OMIM:134600
Primary Fanconi Renotubular Syndrome
Low-molecular-weight proteinuria, Hypouricemia, Hypoglycemia, Increased urinary potassium, Chroni... ORPHA:3337
Cerebral Creatine Deficiency Syndrome 3
Failure to thrive, Organic aciduria OMIM:612718

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Lactose Intolerance, Adult Type
Lactose intolerance, Flatulence, Abdominal pain, Decreased small intestinal mucosa lactase level,... OMIM:223100
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Trehalase Deficiency
Diarrhea, Abdominal pain OMIM:612119
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium OMIM:616868
Inflammatory Bowel Disease 11
Abdominal pain, Diarrhea, Weight loss, Hematochezia, Inflammation of the large intestine OMIM:191390
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Diarrhea 9
Villous atrophy, Failure to thrive, Diarrhea OMIM:618168
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting OMIM:142623
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-los... OMIM:619079
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Ulcerative colitis, Bloody diarrhea OMIM:619398
Trehalase Deficiency
Abdominal pain, Malabsorption, Abdominal distention, Diarrhea, Vomiting ORPHA:103909
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Weight loss, Inflammation o... OMIM:266600
5-Oxoprolinase Deficiency
Abdominal pain, Diarrhea, Enterocolitis, Increased level of L-pyroglutamic acid in urine, Vomitin... OMIM:260005
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy, Small for gestational age, Arthritis, Crypt hyperplasia, Intractable diarrhea, F... OMIM:613217
Secretory Component Deficiency
Chronic intestinal candidiasis, Intermittent diarrhea OMIM:269650
Inflammatory Bowel Disease 28, Autosomal Recessive
Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Colitis, Pyoderma, Crohn's disease OMIM:613148
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy, Diarrhea OMIM:618662
Congenital Sucrase-Isomaltase Deficiency
Abdominal distention, Abdominal colic, Vomiting, Diarrhea ORPHA:35122
Bile Acid Malabsorption, Primary, 1
Chronic diarrhea, Increased fecal bile acid, Steatorrhea, Fat malabsorption, Failure to thrive OMIM:613291
Sucrase-Isomaltase Deficiency, Congenital
Abdominal pain, Diarrhea, Malabsorption OMIM:222900
Cap Polyposis
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Hematochezia, Co... ORPHA:160148
Diarrhea 6
Chronic diarrhea, Crohn's disease, Abdominal pain OMIM:614616
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia OMIM:614896
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Recessive Mitochondrial Ataxia Syndrome
Increased serum pyruvate, Ataxia, ST segment elevation, Dysmetria, Gait disturbance, Cognitive im... ORPHA:94125
Homozygous 11P15-P14 Deletion Syndrome
Feeding difficulties in infancy, Diarrhea, Generalized aminoaciduria, Abnormal intestine morpholo... OMIM:606528
Jervell And Lange-Nielsen Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval OMIM:220400
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Chronic Diarrhea Due To Glucoamylase Deficiency
Dyspepsia, Abnormal small intestinal mucosa morphology, Abdominal pain, Malabsorption, Decreased ... ORPHA:103907
Solitary Rectal Ulcer Syndrome
Anal fissure, Abdominal pain, Rectal prolapse, Episodic abdominal pain, Hematochezia, Chronic con... ORPHA:209964
Lactase Deficiency, Congenital
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level OMIM:223000
Transient Neonatal Diabetes Mellitus
Small for gestational age, Abnormality of the kidney, Maternal diabetes, Maturity-onset diabetes ... ORPHA:99886
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Progressive neurologic deterioration, Congestive hear... ORPHA:90065
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
ST segment elevation, Ventricular tachycardia, Right bundle branch block, Cardiomyopathy, T-wave ... ORPHA:263297
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Incr... OMIM:601494
Diarrhea 7, Protein-Losing Enteropathy Type
Abdominal colic, Villous atrophy, Diarrhea, Protein-losing enteropathy, Vomiting, Failure to thrive OMIM:615863
Inflammatory Bowel Disease 25, Autosomal Recessive
Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ... OMIM:612567
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Bradycardia, Mildly elevated creatine kinase, Dysphagia OMIM:620265
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Villous atrophy, Malnutrition, Abnormal intestine morphology, Protracted diarrhea OMIM:251850
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q... OMIM:613980
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Elevated circulating creatine kinase concentration, Fatigable weakness of skeletal muscles, Inabi... ORPHA:206559
Long Qt Syndrome 2
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613688
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Torsade de pointes, Abnormal T-wav... ORPHA:101016
Ficolin 3 Deficiency
Necrotizing enterocolitis OMIM:613860
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... OMIM:614021
Long Qt Syndrome 10
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu... OMIM:611819
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Brugada Syndrome 9
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope OMIM:616399
Hirschsprung Disease
Intestinal polyposis, Nausea and vomiting, Intestinal obstruction, Aganglionic megacolon, Failure... ORPHA:388
Muscular Dystrophy, Becker Type
Abnormal EKG, Arrhythmia, Elevated circulating creatine kinase concentration, Cardiomyopathy OMIM:300376
Long Qt Syndrome 6
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613693
Hemangioma-Thrombocytopenia Syndrome
Thrombocytopenia, Hyperkalemia, Microangiopathic hemolytic anemia, Ventricular arrhythmia OMIM:141000
3-Methylglutaconic Aciduria, Type V
Prolonged QT interval, Noncompaction cardiomyopathy, Ataxia, Sudden cardiac death, Congestive hea... OMIM:610198
Angioedema, Hereditary, 8
Diarrhea, Episodic vomiting, Abdominal pain OMIM:619367
Intestinal Dysmotility Syndrome
Projectile vomiting, Abdominal distention, Diarrhea, Decreased intestinal transit time, Feeding d... OMIM:620045
Diarrhea 4, Malabsorptive, Congenital
Diarrhea, Failure to thrive, Vomiting OMIM:610370
Long Qt Syndrome 9
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... OMIM:611818
Immunodeficiency, Common Variable, 11
Inflammation of the large intestine, Failure to thrive, Crohn's disease, Mucoid diarrhea OMIM:615767
Cln3 Disease
Ataxia, Aggressive behavior, Vacuolated lymphocytes, Mental deterioration, Depression, Bradykines... ORPHA:228346
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Pseudomyxoma Peritonei
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Weight loss, Inflammation of the lar... ORPHA:26790
Long Qt Syndrome 14
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... OMIM:616247
Atrial Fibrillation, Familial, 3
Paroxysmal atrial fibrillation, Atrial fibrillation, Sudden cardiac death, Permanent atrial fibri... OMIM:607554
Myofibrillar Myopathy 10
Prolonged QTc interval, Increased QRS voltage, Elevated circulating creatine kinase concentration OMIM:619040
Long Qt Syndrome 11
Syncope, Prolonged QTc interval OMIM:611820
Long Qt Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... OMIM:192500
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection... ORPHA:66529
Immunodeficiency 104
Pneumonia, Eczema, Diarrhea, Chronic mucocutaneous candidiasis, Gastroesophageal reflux, Otitis m... OMIM:608971
Autoimmune Hypoparathyroidism
Prolonged QT interval, Confusion, Depression, Abnormal left ventricular function, Irritability, H... ORPHA:36913
Jervell And Lange-Nielsen Syndrome
Iron deficiency anemia, Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricu... ORPHA:90647
Drug-Induced Lupus Erythematosus
Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive... ORPHA:231111
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis, Obesity ORPHA:88643
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... OMIM:615441
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... OMIM:617280
Cardiomyopathy, Familial Hypertrophic, 13
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch... OMIM:613243
Neonatal Lupus Erythematosus
Prolonged QT interval, Hemolytic anemia, Pancytopenia, Aplastic anemia, Heart block, Thrombocytop... ORPHA:398124
Glycogen Storage Disease Xv
ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachycardia, T-wave inver... OMIM:613507
Atrial Standstill
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... ORPHA:1344
Cirrhotic Cardiomyopathy
Prolonged QT interval, Elevated jugular venous pressure, Increased circulating NT-proBNP concentr... ORPHA:57777
Long Qt Syndrome 16
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia OMIM:618782
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Sick sinus syndrome, Bradycardia, Attention deficit hyperactivity disorder OMIM:617182
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... ORPHA:45453
Jervell And Lange-Nielsen Syndrome 2
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... OMIM:612347
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Prolonged QT interval, Elevated circulating creatine kinase concentration OMIM:615351
Scapuloperoneal Myopathy, X-Linked Dominant
Right bundle branch block, Steppage gait, Elevated circulating creatine kinase concentration, Wad... OMIM:300695
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Congenital Short Bowel Syndrome
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ... OMIM:615237
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... ORPHA:280356
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Chronic diarrhea, Atopic dermatitis, Ulcerative colitis, Bronchiectasis, Colonic eosin... OMIM:617638
Congenital Heart Block
Cyanosis, First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atriovent... ORPHA:60041
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... OMIM:610193
Carnitine-Acylcarnitine Translocase Deficiency
Cardiac arrest, Elevated circulating creatine kinase concentration, Ventricular tachycardia, Atri... OMIM:212138
Timothy Syndrome
Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, Bradycardia, Hypocalcemia... OMIM:601005
Muscle Filaminopathy
Extremely elevated creatine kinase, Left ventricular diastolic dysfunction, Right bundle branch b... ORPHA:171445
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Brugada Syndrome 7
Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati... OMIM:613120
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Neonatal hypotonia, Small for gestational age, Ketotic hypoglycemia, Maturity-onset... ORPHA:324575
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope OMIM:600919
Congenital Left Ventricular Aneurysm
Congestive heart failure, Arrhythmia, Abnormal ST segment, Abnormal T-wave ORPHA:1055
Sick Sinus Syndrome 1
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... OMIM:608567
Exercise-Induced Malignant Hyperthermia
Prolonged QT interval, Ataxia, Elevated circulating creatine kinase concentration, Confusion, Hyp... ORPHA:466650
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Tachycardia, Elevated circulating creatine kinase concentration, Increased... ORPHA:26793
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Microvillus inclusions, Abdominal distention, Secretory diarrhea, Bronchiectasis... OMIM:619445
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Diarrhea, Vomiting OMIM:605911
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... ORPHA:75565
Erythroderma Desquamativum
Diarrhea, Failure to thrive, Seborrheic dermatitis ORPHA:314
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Elevated circulating creatine kinase concentration, Sudden cardiac death, First degree atrioventr... OMIM:181350
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia ORPHA:871
Mody
Large for gestational age, Transient neonatal diabetes mellitus, Renal cyst, Glucose intolerance,... ORPHA:552
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Myopathy, Myofibrillar, 1
Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restrictive cardiomyopa... OMIM:601419
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Broad-based gait, Ataxia, Elevated circulating creatine kinase concentration, Unsteady gait, Dysm... OMIM:616479
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Abdominal pain, Diarrhea, Colitis, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent ... OMIM:613960
Combined Malonic And Methylmalonic Aciduria
Diarrhea, Failure to thrive, Vomiting OMIM:614265
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, Hypoglycemia, Spastic tetraparesis, Progressive cerebellar ataxia, 3-Methylglutacon... ORPHA:67046
Cardiomyopathy, Familial Restrictive, 3
Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation... OMIM:612422
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Anorexia, Poor appetite, Nausea, Abno... ORPHA:2494
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... ORPHA:435660
Long Qt Syndrome 5
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... OMIM:613695
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Elevated circulating creatine kinase concentration, Cardiomyopathy OMIM:309930
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Right bundle branch block, Elevated circulating creatine kinase concentration OMIM:613158
Long Qt Syndrome 3
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... OMIM:603830
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Intracra... ORPHA:251274
Brugada Syndrome 6
ST segment elevation, Ventricular fibrillation, Cardiac arrest OMIM:613119
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hyperalaninemia, Congestive heart failure, Decreased plasma free carnitine, Bradycardia OMIM:619048
Epidermolysis Bullosa Acquisita
Inflammation of the large intestine, Abdominal pain ORPHA:46487
Long Qt Syndrome 8
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... OMIM:618447
Glycogen Storage Disease Due To Aldolase A Deficiency
Hemolytic anemia, Arrhythmia, Elevated creatine kinase after exercise, Hyperkalemia ORPHA:57
Lipodystrophy, Familial Partial, Type 3
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased HDL ... OMIM:604367
Combined Oxidative Phosphorylation Deficiency 52
Renal insufficiency, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration,... OMIM:619386
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Premature ovarian insufficiency, Depression, Cardiomyopathy, Dementia, Hypogonadism, Bradycardia,... OMIM:609286
Immunodeficiency 76
Chronic diarrhea, Colitis, Recurrent pneumonia OMIM:619164
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Nausea and vomiting, Abnormal large intestine morphology, Poor appet... ORPHA:2198
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Bradycardia, Dysphagia OMIM:616276
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Left ventricular diastolic dysfun... OMIM:618052
Trichohepatoenteric Syndrome 2
Villous atrophy, Small for gestational age, Diarrhea, Chronic diarrhea, Chronic hepatitis, Bloody... OMIM:614602
Chronic Atrial And Intestinal Dysrhythmia
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ... OMIM:616201
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... ORPHA:79085
Immunodeficiency 57 With Autoinflammation
Gastritis, Skin rash, Perianal abscess, Diarrhea, Bronchiectasis, Inflammation of the large intes... OMIM:618108
Dilated Cardiomyopathy With Ataxia
Prolonged QT interval, Ataxia, Bilateral cryptorchidism, Repetitive compulsive behavior, Dilated ... ORPHA:66634
Brugada Syndrome 5
ST segment elevation, Bundle branch block, Ventricular fibrillation OMIM:612838
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Polyphagia, Type II di... ORPHA:71529
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Right axis deviation, Elevated jugular venous pressure, Elevated circulating creatine kinase conc... OMIM:255160
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Abnormal circulating acylcarnitine concentration, Confusion, Increased cir... ORPHA:71212
Long Qt Syndrome 12
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes OMIM:612955
Lipoyltransferase 1 Deficiency
Hyperglutaminemia, Hyperprolinemia, Bradycardia, Pulmonary arterial hypertension, Increased total... OMIM:616299
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Waddling gait, Absent P wave, Sudden cardiac death, First degree atrioventricular block, Elevated... OMIM:310300
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Ataxia, Cardiac arrest, Elevated circulating creatine kinase concentration, Oral-pharyngeal dysph... OMIM:616878
Cardiomyopathy, Dilated, 1E
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... OMIM:601154
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Confusion, Myocardial infarction, Microangiopathic hemolytic anemia, Decreased s... ORPHA:54057
Pseudohypoparathyroidism Type 2
Prolonged QT interval, Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalc... ORPHA:94090
Gitelman Syndrome
Prolonged QT interval, Salt craving, Ataxia, Ventricular tachycardia, Hypokalemia, Increased circ... OMIM:263800
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... OMIM:612240
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Aminoacylase 1 Deficiency
Hyperactivity, Bradycardia OMIM:609924
Chylomicron Retention Disease
Diarrhea, Malnutrition, Accumulation of lipid droplets in small-bowel enterocytes, Vomiting, Stea... OMIM:246700
Glucose/Galactose Malabsorption
Malabsorption, Abdominal distention, Hyperactive bowel sounds, Chronic diarrhea, Failure to thrive OMIM:606824
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Obesity, Oligo... OMIM:615703
Cardiomyopathy, Dilated, 1V
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... OMIM:613697
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Tachycardia, Atrial fibrillation, Hypertriglyceridemia, Elevated circulati... OMIM:613327
Immunoglobulin Kappa Light Chain Deficiency
Diarrhea, Chronic diarrhea OMIM:614102
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Ataxia, Confusion, Cyanosis, Cong... ORPHA:31826
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Abdominal pain, Abnormal gastric mucosa morphology, Diarrhea... ORPHA:263665
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia,... OMIM:145600
Mitochondrial Complex I Deficiency, Nuclear Type 13
Irritability, Hypertrophic cardiomyopathy, Bradycardia, Cardiac arrest OMIM:618235
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... ORPHA:435651
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Prolonged QT interval, Abnormal EKG, Ataxia, Elevated circulating creatine kinase concentration, ... ORPHA:480864
Rabies
Nausea and vomiting, Diarrhea, Anorexia ORPHA:770
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co... ORPHA:766
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... ORPHA:71526
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:66628
Cardiomyopathy, Familial Hypertrophic, 26
Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Permanent atrial fibrillatio... OMIM:617047
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Colitis, Minimal change glomerulonephritis OMIM:617006
Immunodeficiency 37
Colitis, Infectious encephalitis OMIM:616098
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Scorpion Envenomation
Bundle branch block, Tachycardia, Increased circulating NT-proBNP concentration, Ataxia, Restless... ORPHA:466677
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:179494
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Enterokinase Deficiency
Diarrhea, Failure to thrive OMIM:226200
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia, Bradycardia, Lethargy ORPHA:95717
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia OMIM:610539
Cardiomyopathy, Dilated, 1U
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... OMIM:613694
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Sup... ORPHA:99103
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia ORPHA:1479
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Hyperpepsinogenemia I, Cardiomyopathy, B... OMIM:615745
Andersen-Tawil Syndrome
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... ORPHA:37553
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... OMIM:615238
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Cryptorchidism, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia OMIM:618815
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Malaria
Elevated circulating C-reactive protein concentration, Anemia, Gait imbalance, Cognitive impairme... ORPHA:673
Gastroesophageal Reflux
Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis OMIM:109350
Congenital Enterocyte Heparan Sulfate Deficiency
Abdominal distention, Diarrhea, Weight loss, Hematochezia, Protein-losing enteropathy ORPHA:103910
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Congestive heart failure, Increased circulating ferritin concentra... OMIM:602390
Immunodeficiency 48
Failure to thrive, Diarrhea, Eczematoid dermatitis, Pneumonia OMIM:269840
Esophagitis, Eosinophilic, 2
Failure to thrive, Vomiting, Esophagitis, Dysphagia OMIM:613412
Esophagitis, Eosinophilic, 1
Failure to thrive, Vomiting, Esophagitis, Dysphagia OMIM:610247
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Elevated circulating creatine kinase concentration, Normochromic an... OMIM:618775
Atrial Fibrillation, Familial, 14
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval OMIM:615378
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Low back pain, Hypoglycemia, Vaginal neoplasm, Reduced C-peptide ... ORPHA:2126
Potocki-Lupski Syndrome
Hyperactivity, Small for gestational age, Oral-pharyngeal dysphagia, Abnormal repetitive manneris... OMIM:610883
Trimethylaminuria
Tachycardia, Splenomegaly, Depression, Hypertension, Neutropenia, Anemia OMIM:602079
Brunner Syndrome
Diarrhea OMIM:300615
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Hyperkalemic Periodic Paralysis
Hyponatremia, Elevated circulating creatine kinase concentration, Congestive heart failure, Hyper... ORPHA:682
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Hypoalbuminemia, Fasting hy... ORPHA:2298
Cardiomyopathy, Dilated, 1Bb
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:612877
Vascular Hyalinosis
Hematochezia, Diarrhea, Protein-losing enteropathy, Malabsorption OMIM:277175
Rh Deficiency Syndrome
Hemolytic anemia, Tachycardia, Reticulocytosis, Macrocytic anemia, Anisocytosis, Spherocytosis, H... ORPHA:71275
Galactosemia Iii
Hepatomegaly, Splenomegaly, Jaundice, Hypotonia, Aminoaciduria, Galactosuria, Hypergalactosemia, ... OMIM:230350
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiac arrest, Anorexia, Megaloblastic anemia, Paroxysmal atrial tachycardia, Congestive heart f... ORPHA:49827
Neuroleptic Malignant Syndrome
Elevated circulating creatine kinase concentration, Pulmonary embolism, Hypocalcemia, Delirium, H... ORPHA:94093
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Aggressive behavior, Hyperglycinuria, Hypotonia, Hyperprolinemia, Generali... OMIM:239500
Congenital Generalized Lipodystrophy
Adipose tissue loss, Low anterior hairline, Hepatic steatosis, Hepatomegaly, Insulin resistance, ... ORPHA:528
Mehmo Syndrome
Axial hypotonia, Small for gestational age, Decreased response to growth hormone stimulation test... OMIM:300148
Attrv122I Amyloidosis
Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr... ORPHA:85451
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizur... ORPHA:276580
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Galactokinase Deficiency
Hepatomegaly, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Small for gestatio... ORPHA:79237
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... OMIM:619897
Polyendocrine-Polyneuropathy Syndrome
Decreased testicular size, Alopecia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia... ORPHA:453533
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Obesity, Primary amenorrhea, Hypogonadism, Micropenis, Polyphagia, Decrea... OMIM:614962
Volvulus Of Midgut
Intestinal malrotation, Abdominal distention, Neonatal intestinal obstruction, Constipation, Volv... OMIM:193250
Coenzyme Q10 Deficiency, Primary, 5
Hyperalaninemia, Bradycardia OMIM:614654
Cerebral Creatine Deficiency Syndrome 1
Prolonged QT interval, Broad-based gait, Aggressive behavior, Elevated circulating creatine conce... OMIM:300352
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Elevated circulating creatine kinase concentration, Sinus bradycardia, Second degree atrioventric... OMIM:616812
Immunodeficiency 14B, Autosomal Recessive
Chronic diarrhea, Recurrent pneumonia, Inflammation of the large intestine, Colitis, Recurrent si... OMIM:619281
Nathalie Syndrome
Abnormal EKG OMIM:255990
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602086
Cardiomyopathy, Familial Hypertrophic, 16
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... OMIM:613838
Coproporphyria, Hereditary
Increased fecal coproporphyrin III:coproporphyrin I ratio, Increased fecal coproporphyrin 3, Abdo... OMIM:121300
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Bradycardia OMIM:616277
Idiopathic Neonatal Atrial Flutter
Abnormal EKG, Abnormal atrioventricular conduction, Abnormal left ventricular function, Reduced l... ORPHA:45452
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Tetanus
Tachycardia, Elevated circulating creatine kinase concentration, Hypertension, Bradycardia, Dysph... ORPHA:3299
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Decreased circu... ORPHA:276575
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension, Thrombocytopenia OMIM:166990
Lymphoproliferative Syndrome, X-Linked, 2
Acne, Recurrent skin infections, Erythema nodosum, Hepatitis, Folliculitis, Inflammation of the l... OMIM:300635
Sick Sinus Syndrome 4
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... OMIM:619464
Rett Syndrome
Gait apraxia, Bruxism, Gait ataxia, Truncal ataxia, Abnormal T-wave, Motor deterioration, Prolong... OMIM:312750
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Preeclampsia/Eclampsia 1
Hypertension, Thrombocytopenia OMIM:189800
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... OMIM:608758
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death OMIM:192605
Necrotizing Enterocolitis
Shock, Hyponatremia, Leukocytosis, Bradycardia, Hypotension, Neutropenia, Lethargy, Thrombocytopenia ORPHA:391673
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... ORPHA:3282
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis, Bradycardia, Atrioventricular block, Truncal ataxia OMIM:614407
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, ... OMIM:232700
Stimmler Syndrome
Aminoaciduria, Abnormal dental enamel morphology, Ataxia, Type II diabetes mellitus ORPHA:3199
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... ORPHA:99105
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Reduced i... ORPHA:363400
Diarrhea 13
Failure to thrive, Secretory diarrhea, Vomiting OMIM:620357
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Diabetes mellitus, Dorsocervical fat pad, Short neck, Low anterior hairline, Primary amenorrhea, ... OMIM:616033
Brugada Syndrome 1
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... OMIM:601144
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Lipod... OMIM:612526
Eosinophilic Gastroenteritis
Abnormality of the gastrointestinal tract, Allergic rhinitis, Malabsorption, Abdominal pain, Diar... ORPHA:2070
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG, Progressive cerebellar ataxia, Progressive gait ataxia, Cardiomyopathy, Cognitive i... ORPHA:1177
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Proteinuria, Abnormality of the k... ORPHA:369
Glycogen Storage Disease Of Heart, Lethal Congenital
Cyanosis, Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevat... OMIM:261740
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric... OMIM:614954
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Abdominal pain, Rectal prolapse, Diarrhea, Multiple gastric polyps, Hema... OMIM:174900
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... OMIM:613251
Combined Oxidative Phosphorylation Deficiency 10
Hyperalaninemia, Hypertrophic cardiomyopathy, Bradycardia, Hyperammonemia OMIM:614702
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Allerg... ORPHA:411696
Familial Thyroid Dyshormonogenesis
Neonatal hyperbilirubinemia, Abnormal circulating thyroglobulin level, Bradycardia, Lethargy ORPHA:95716
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Right bundle branch block, Loss of ambulation, Elevated circulating creatine kinase concentration... ORPHA:254361
Gitelman Syndrome
Prolonged QT interval, Polydipsia, Salt craving, Raynaud phenomenon, Hypomagnesemia, Hypermagnese... ORPHA:358
Thyrotoxic Periodic Paralysis
Prolonged QT interval, Episodic hypokalemia, Transient hypophosphatemia, Shortened PR interval, H... ORPHA:79102
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Diarrhea, Arthritis, Conjunctivitis, Otitis media, Failure to thriv... OMIM:601457
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Arrhythmia ORPHA:2151
Enteric Anendocrinosis
Diarrhea, Vomiting, Malabsorption ORPHA:83620
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Elevated circulating creatine kinase c... ORPHA:90068
Pseudohypoparathyroidism Type 1C
Prolonged QT interval, Calcinosis, Hypergonadotropic hypogonadism, Confusion, Depression, Irritab... ORPHA:79444
Lipodystrophy, Congenital Generalized, Type 1
Hepatic steatosis, Hepatomegaly, Umbilical hernia, Hirsutism, Elevated hepatic transaminase, Acut... OMIM:608594
Congenital Disorder Of Glycosylation, Type Ia
Flexion contracture, Renal cyst, Dysmetria, Hepatic fibrosis, Hypoalbuminemia, Hypocholesterolemi... OMIM:212065
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Hyperlordosis, Cryptorchidism, Kyphosis, Hyperinsulinemia, Obesit... ORPHA:3085
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Andersen Cardiodysrhythmic Periodic Paralysis
Prolonged QT interval, Bidirectional ventricular ectopy, Depression, Hypokalemia, Syncope, Palpit... OMIM:170390
Genetic Recurrent Myoglobinuria
Hyperkalemia, Highly elevated creatine kinase, Fatigable weakness of swallowing muscles, Hyperpho... ORPHA:99845
2P21 Microdeletion Syndrome
Hypoglycemia, Nephrolithiasis, Hypotonia, Cystinuria, Hypogonadism, Hypocalcemia, Long eyelashes,... ORPHA:163693
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... OMIM:600955
Complement Component 4B Deficiency
Chronic active hepatitis, Chronic diarrhea, Recurrent pneumonia, Recurrent sinusitis, Recurrent o... OMIM:614379
Bleeding Disorder, Platelet-Type, 19
Epistaxis, Macrothrombocytopenia, Anemia, Menorrhagia, Thrombocytopenia OMIM:616176
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Elevated hepatic transaminase, Aggressive behavior, Hyperlipidemia, Hyperinsulinemia, Obesity, Hy... ORPHA:329249
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop... OMIM:617222
Autoinflammation With Infantile Enterocolitis
Villous atrophy, Skin rash, Feeding difficulties in infancy, Secretory diarrhea, Enterocolitis, F... OMIM:616050
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Bradycardia OMIM:614302
Beta-Thalassemia
Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenome... ORPHA:848
Progressive Familial Heart Block, Type Ia
Sudden cardiac death, Left posterior fascicular block, Right bundle branch block, Syncope, Prolon... OMIM:113900
Lipodystrophy, Congenital Generalized, Type 2
Hepatic steatosis, Hepatomegaly, Umbilical hernia, Hirsutism, Elevated hepatic transaminase, Acut... OMIM:269700
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Skin rash, Anterior uveitis, Colitis, Ileal ulcer OMIM:616744
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... OMIM:612098
Pseudohypoparathyroidism Type 1B
Prolonged QT interval, Calcinosis, Depression, Irritability, Hyperphosphatemia, Hypocalcemia, Hyp... ORPHA:94089
Hereditary Central Diabetes Insipidus
Diarrhea, Vomiting, Weight loss ORPHA:30925
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Glucocortocoid-insensitive primary hyperaldosteronism, Hyperkalemia, Hypovolemic sh... ORPHA:171876
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Proteinuria, Nephrogenic diabe... OMIM:613404
Short Qt Syndrome 2
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... OMIM:609621
Immunodeficiency 60 And Autoimmunity
Chronic diarrhea, Bronchiectasis, Ulcerative colitis, Colitis, Crohn's disease OMIM:618394
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Hyperlipidemia, Insulin resistance, Hyperinsulinemia, Obesity, Increased se... OMIM:617885
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anorexia, Thrombocytopenia, Splenomegaly, Hyperammonemia, Choreoathetosis, Cardiomyopathy, Neutro... ORPHA:79312
Immunodeficiency 70
Furuncle, Celiac disease, Colitis, Recurrent sinusitis, Achalasia OMIM:618969
Niemann-Pick Disease, Type B
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cells, Thrombocyt... OMIM:607616
Radiation Proctitis
Intestinal obstruction, Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, ... ORPHA:70475
Pseudohypoparathyroidism Type 1A
Prolonged QT interval, Calcinosis, Hypergonadotropic hypogonadism, Confusion, Depression, Choreoa... ORPHA:79443
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Neonatal hypotonia, Proteinuria, Large for gestation... ORPHA:263455
Atrial Fibrillation, Familial, 10
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill... OMIM:614022
Galactosemia I
Hepatomegaly, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Elevated circulati... OMIM:230400
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Neuropathy, Hereditary Sensory And Autonomic, Type Vii
Diarrhea, Constipation OMIM:615548
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevat... OMIM:615158
Illum Syndrome
Calcinosis, Bradycardia OMIM:208155
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Abnormality of the thyroid gland, Splenomegaly, Hypotonia, Abnormal circulating cal... ORPHA:417
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Polycystic ov... ORPHA:79084
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Intermittent diarrhea, Obesity, Feeding difficulties OMIM:620270
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... ORPHA:92050
Snakebite Envenomation
Hyponatremia, Tachycardia, Epistaxis, Myocardial infarction, Neuromuscular dysphagia, Intracrania... ORPHA:449285
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Failure to thrive, Premature ovarian insufficiency, Aminoaciduria ORPHA:2278
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... OMIM:140400
Sengers Syndrome
Premature ovarian insufficiency, Cardiac arrest, Sudden cardiac death, Mental deterioration, Pulm... OMIM:212350
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Reticular Dysgenesis
Skin rash, Malabsorption, Diarrhea, Weight loss, Chronic otitis media, Failure to thrive ORPHA:33355
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Chronic mucocutaneous candidiasis, ... OMIM:209920
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Primary amenorrhea, Female infertility, Delayed puberty OMIM:300604
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism, Inguinal hernia, Decreased cirrculating antimullerian... OMIM:261550
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... OMIM:601820
Infant Acute Respiratory Distress Syndrome
Tachycardia, Cyanosis, Cardiac arrest, Hypoxemia, Bradycardia, Hypotension ORPHA:70587
Meconium Ileus
Chronic diarrhea, Microcolon, Meconium ileus OMIM:614665
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Glutamine Deficiency, Congenital
Hypoglutaminemia, Bradycardia, Hyperammonemia OMIM:610015
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Large for gestational age, Reactive hypoglycemia, Hypoglycemic seizures, Decreased ... ORPHA:276556
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... OMIM:609620
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Eunuchoid habitus, Hypergonadotropic hypogonadism... ORPHA:91
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Fatigable weakness of distal limb muscles, Heart block, Abnormal left ventricular function, Cardi... ORPHA:98912
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Leukocyte inclusion bodies, Epistaxis, Myocardial infarction, Giant platelets, Neutrophil inclusi... OMIM:155100
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Orthostatic hypotension, Increased circulating corticosterone level, Hyperkalemia, ... OMIM:610600
Isochromosomy Yp
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... ORPHA:98797
Linear Iga Dermatosis
Inflammation of the large intestine ORPHA:46488
Peripartum Cardiomyopathy
Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card... ORPHA:563
Folate Malabsorption, Hereditary
Feeding difficulties in infancy, Diarrhea, Failure to thrive, Malabsorption OMIM:229050
Acquired Methemoglobinemia
Tachycardia, Cyanosis, Confusion, Hypoxemia, Syncope, Palpitations, Arrhythmia, Methemoglobinemia ORPHA:464453
Refractory Anemia With Excess Blasts
Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti... ORPHA:86839
Brugada Syndrome 3
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... OMIM:611875
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone level, I... ORPHA:556037
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Diarrhea, Feeding difficulties, Weight loss, Aminoaciduria, Vomiting, Failure to thrive OMIM:612075
Galactose Epimerase Deficiency
Hepatomegaly, Splenomegaly, Jaundice, Hypotonia, Weight loss, Aminoaciduria ORPHA:79238
Classic Galactosemia
Male infertility, Hepatomegaly, Decreased serum insulin-like growth factor 1, Premature ovarian i... ORPHA:79239
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona... OMIM:619326
Hypotonia-Cystinuria Syndrome
Axial hypotonia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation... OMIM:606407
Refractory Anemia
Normocytic anemia, Abnormal cardiac ventricular function, Macrocytic anemia, Anemia of inadequate... ORPHA:98826
Dracunculiasis
Nausea and vomiting, Recurrent cutaneous abscess formation, Skin rash, Diarrhea, Arthritis ORPHA:231
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Presyncope,... OMIM:618920
Muscular Dystrophy, Duchenne Type
Waddling gait, Abnormal EKG, Elevated circulating creatine kinase concentration, Congestive heart... OMIM:310200
Sepsis In Premature Infants
Tachycardia, Cyanosis, Elevated circulating C-reactive protein concentration, Thrombocytopenia, L... ORPHA:90051
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Immunodeficiency 40
Rectal fistula, Chronic diarrhea, Recurrent pneumonia, Interstitial pneumonitis, Chronic oral can... OMIM:616433
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Skin rash, Abdominal pain, Perianal abscess, Diarrhea, Weight loss, Chronic co... OMIM:301074
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Acne, Sterile arthritis, Arthritis, Colitis, Cystic acne OMIM:604416
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Ataxia, Cryptorchidism, Thiamine-responsive megaloblastic anemia, Cardiomyo... OMIM:249270
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone level, I... ORPHA:556030
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin... OMIM:256450
Babesiosis
Hemolytic anemia, Confusion, Anorexia, Myocardial infarction, Congestive heart failure, Splenomeg... ORPHA:108
Visceral Myopathy 1
Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Abdominal pain, Pancreatitis... OMIM:155310
Gray Platelet Syndrome
Abnormality of thrombocytes, Epistaxis, Abnormality of the menstrual cycle, Splenomegaly, Thrombo... ORPHA:721
Fanconi-Bickel Syndrome
Hepatocellular carcinoma, Nephrocalcinosis, Fasting hypoglycemia, Nephropathy, Hepatomegaly, Elev... ORPHA:2088
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia... ORPHA:276608
Immunodeficiency 19
Recurrent otitis media, Failure to thrive, Chronic diarrhea OMIM:615617
Squalene Synthase Deficiency
Hypospadias, Failure to thrive in infancy, Increased circulating farnesol concentration, Bilatera... OMIM:618156
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Melena, Increased serum iron, Increased mean corpu... ORPHA:98870
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Failure to thrive, Hypergonadotropic hypogonadism, Hypoglycemia, Elevated circulati... OMIM:617872
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Intestinal obstruction, Psoriasiform dermatitis, Jejunal atresia, Intestinal malrotation, Ileal a... OMIM:243150
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level, Hypotension OMIM:620125
Vitamin B12-Unresponsive Methylmalonic Acidemia
Macrocytic anemia, Ataxia, Thrombocytopenia, Hyperammonemia, Choreoathetosis, Cardiomyopathy, Leu... ORPHA:27
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level, Hypotension OMIM:203400
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased HDL cholesterol concentration, Dysmenorrhea, Premature graying of hair, Increased intra... ORPHA:280365
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Relapsing Fever
Tachycardia, Neutrophilia, Epistaxis, Elevated circulating C-reactive protein concentration, Thro... ORPHA:91547
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
Rhabdoid Tumor
Hypercalcemia, Thrombocytopenia, Hypertension, Irritability, Internal hemorrhage, Anemia ORPHA:69077
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T... ORPHA:79299
Myotonic Dystrophy 2
Tachycardia, Elevated circulating creatine kinase concentration, Premature ventricular contractio... OMIM:602668
Loeffler Endocarditis
Aortic regurgitation, Pericarditis, Eosinophilia, Left ventricular diastolic dysfunction, Congest... ORPHA:75566
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Aapoaiv Amyloidosis
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab... ORPHA:439232
Malignant Hyperthermia Of Anesthesia
Hypercapnia, High-output congestive heart failure, Ventricular tachycardia, Hyperkalemia, Prematu... ORPHA:423
Isolated Thyroid-Stimulating Hormone Deficiency
Depression, Bradycardia, Attention deficit hyperactivity disorder, Macroorchidism, Hypercholester... ORPHA:90674
Wild Type Attr Amyloidosis
Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Hypertrop... ORPHA:330001
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Duodenitis, Pustule, Bloody diarrhea, Erythroderma, Failure to thrive, Blepharitis OMIM:614328
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia ORPHA:542306
Cystinosis
Renal insufficiency, Proteinuria, Portal hypertension, Nephrogenic diabetes insipidus, Abnormal r... ORPHA:213
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Pancreatic Colipase Deficiency
Exocrine pancreatic insufficiency, Fat malabsorption, Chronic diarrhea, Steatorrhea ORPHA:309108
Marburg Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Anorexia, Leukopenia, Hypoalbuminemia, Lethar... ORPHA:99826
Temple Syndrome
Hypertriglyceridemia, Small for gestational age, Maturity-onset diabetes of the young, Precocious... OMIM:616222
Hyperprolactinemia
Increased circulating prolactin concentration, Menorrhagia, Oligomenorrhea, Female infertility OMIM:615555
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypotonia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Moyamoya Disease 6 With Or Without Achalasia
Raynaud phenomenon, Hypertension, Impotence, Ischemic stroke, Dysphagia, Thrombocytopenia OMIM:615750
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Thrombocytopenia, Hypertension, Second degree... OMIM:617021
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Congest... ORPHA:75564
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... OMIM:115200
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Hypotonia, Hyperglycinuria, Hyperg... OMIM:605899
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Abnormal EKG, Elevated circulating creatine kinase concentration, Inability to walk, Right bundle... ORPHA:268
Familial Pseudohyperkalemia
Reticulocytosis, Hyperkalemia, Hypertension, Increased mean corpuscular volume, Stomatocytosis, E... ORPHA:90044
Pyruvate Dehydrogenase E3 Deficiency
Elevated hepatic transaminase, Hepatomegaly, Increased urine alpha-ketoglutarate concentration, E... ORPHA:2394
Liddle Syndrome
Hypertension, Arrhythmia, Hypokalemia, Cerebral ischemia ORPHA:526
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level, Hypotension OMIM:177735
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Bradycardia OMIM:619814
Lujo Hemorrhagic Fever
Shock, Confusion, Elevated circulating C-reactive protein concentration, Myocarditis, Leukocytosi... ORPHA:319213
Pseudo-Torch Syndrome 2
Lethargy, Thrombocytopenia, Bradycardia, Cerebral hemorrhage OMIM:617397
Alg12-Cdg
Elevated hepatic transaminase, Hyponatremia, Decreased serum insulin-like growth factor 1, Hyposp... ORPHA:79324
Late-Onset Isolated Acth Deficiency
Hyponatremia, Normocytic anemia, Orthostatic hypotension, Decreased circulating cortisol level, P... ORPHA:199299
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Peroxisome Biogenesis Disorder 3B
Hepatomegaly, Ataxia, Elevated circulating phytanic acid concentration, Hypotonia, Generalized hy... OMIM:266510
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Short Qt Syndrome 7
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation OMIM:620231
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Pseudohypoaldosteronism Type 2
Hypertension, Hyperkalemia ORPHA:757
Preeclampsia
Elevated circulating creatinine concentration, Elevated diastolic blood pressure, Hypertension, E... ORPHA:275555
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Amoebiasis Due To Entamoeba Histolytica
Intestinal obstruction, Abdominal pain, Gastrointestinal dysmotility, Diarrhea, Bloody diarrhea, ... ORPHA:67
Retinitis Pigmentosa
Hypoplasia of penis, Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II ... ORPHA:791
Immune Thrombocytopenia
Thrombocytopenia OMIM:188030
Cardiomyopathy, Dilated, 1Ii
Increased left ventricular end-diastolic volume, Elevated circulating creatine kinase concentrati... OMIM:615184
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anisocytosis, Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Spleno... OMIM:616860
Gracile Syndrome
Increased serum pyruvate, Increased circulating ferritin concentration, Cholestasis, Aminoaciduri... OMIM:603358
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Maternal Uniparental Disomy Of Chromosome 4
Neurogenic bladder, Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Ata... ORPHA:96180
Lipodystrophy, Familial Partial, Type 2
Decreased HDL cholesterol concentration, Adipose tissue loss, Increased intraabdominal fat, Hyper... OMIM:151660
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Hypotonia, Obesity, Glucose intolerance, Attention deficit hyperactivity disord... ORPHA:369873
Brugada Syndrome 2
Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr... OMIM:611777
Acute Adrenal Insufficiency
Hyponatremia, Normocytic anemia, Orthostatic hypotension, Decreased circulating cortisol level, D... ORPHA:95409
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pneumonia, Malabsorption, Diarrhea, ... ORPHA:229717
Bundle Branch Block, Familial Isolated Complete Right
Right bundle branch block OMIM:113950
Atrial Fibrillation, Familial, 11
Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ... OMIM:614049
Perlman Syndrome
Hepatomegaly, Hypoplasia of penis, Inguinal hernia, Femoral hernia, Cryptorchidism, Abnormal panc... ORPHA:2849
Combined Oxidative Phosphorylation Deficiency 47
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Short neck, Cryptorchidism, Platyspond... OMIM:618958
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Renal salt wasting, Precocious ... OMIM:614736
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Sheehan Syndrome
Hyponatremia, Dyspareunia, Orthostatic hypotension, Decreased circulating cortisol level, Decreas... ORPHA:91355
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Ketonuria, Elevated circulating growth hormone concentration, Large for gestational age, Neonatal... ORPHA:79644
Hyperinsulinism-Hyperammonemia Syndrome
Increased urine alpha-ketoglutarate concentration, Reactive hypoglycemia, Fasting hyperinsulinemi... ORPHA:35878
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Arrhythmia, Ataxia, Neutropenia OMIM:616949
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Colonic diverticula, Intestinal pseudo-obstruction, Gastroparesis, Cachexia, Malabsorption, Intes... OMIM:603041
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Tenorio Syndrome
Hypoglycemia, Hypotonia, Enuresis, Gait disturbance, Scoliosis, Hypoinsulinemia, Thick eyebrow, H... OMIM:616260
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... OMIM:620211
3-Methylcrotonyl-Coa Carboxylase Deficiency
Failure to thrive in infancy, Hypoglycemia, Hypotonia, Hyperammonemia, Abnormal circulating leuci... ORPHA:6
Spermatogenic Failure 17
Male infertility OMIM:617214
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Cryptorchidism, Macrothrombocytopenia, Poikilocyto... ORPHA:67044
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... ORPHA:263458
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Elevated circulating insulin:C-peptide ratio, Hy... OMIM:609968
Agammaglobulinemia 3, Autosomal Recessive
Recurrent otitis media, Diarrhea, Failure to thrive OMIM:613501
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anorexia, Malabsorption, Abdominal pain, Cachexia, Diarrhea, Xerostomia, Hamartomatous polyposis,... OMIM:175500
Fetal Parvovirus Syndrome
Thrombocytopenia, Hypertrophic cardiomyopathy, Anemia ORPHA:295
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Ataxia, Hypotonia, Dysmetria, Truncal ataxia, Aminoaciduria, Abnormality of the vertebral column,... OMIM:250620
Rett Syndrome
Increased serum pyruvate, Dystonia, Inability to walk, Hyperammonemia, Bradykinesia, Gait disturb... ORPHA:778
Hypoglycemia, Leucine-Induced
Spasticity, Ataxia, Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... OMIM:611528
Cholesteryl Ester Storage Disease
Nausea and vomiting, Diarrhea, Hepatic failure, Esophageal varix ORPHA:75234
Pseudohypoaldosteronism, Type Iia
Hypertension, Hyperkalemia OMIM:145260
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Hyperaldosteronism, Hyperkalemia, Hypotension OMIM:264350
Cronkhite-Canada Syndrome
Intestinal polyposis, Anorexia, Malabsorption, Abdominal pain, Cachexia, Diarrhea, Furrowed tongu... ORPHA:2930
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Stuve-Wiedemann Syndrome 2
Congestive heart failure, Pulmonary arterial hypertension, Thrombocytopenia, Dysphagia OMIM:619751
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly, Anemia, Hemopha... OMIM:603552
Saccharopinuria
Citrullinuria, Elevated circulating sacchoropine concentration, Histidinuria, Saccharopinuria, Sp... OMIM:268700
Reni Syndrome
Diffuse mesangial sclerosis, Hypertriglyceridemia, Proteinuria, Ataxia, Hypoglycemia, Mesangial h... OMIM:617575
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Malnutrition, Feeding difficulties, Gastroesophageal reflux, Intermittent diarrhea, Recurrent asp... OMIM:619971
3-Methylglutaconic Aciduria Type 4
Hypoglycemia, Hypotonia, 3-Methylglutaconic aciduria, Decreased liver function, Spasticity, Failu... ORPHA:67048
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated creatine kinase after exercise, Sudden cardiac death, Elevated circulating acylcarnitine... ORPHA:99901
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hepatomegaly, Brittle hair, Sparse eyebrow, Hypotonia, Spasticity, Hydrocele testis, Hypocholeste... OMIM:618810
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Central Diabetes Insipidus
Nausea and vomiting, Anorexia, Diarrhea, Weight loss, Failure to thrive ORPHA:178029
Isochromosomy Yq
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... ORPHA:98798
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Large for gestational age, Increased circulating free fatty acid level, ... ORPHA:293964
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Acanthocytosis, Decreased ... OMIM:615558
Bleeding Disorder, Platelet-Type, 20
Menorrhagia, Epistaxis, Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Menorrhagia, Epistaxis, Thrombocytopenia OMIM:613554
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Elevated circulating creatine kinase concentration, Anorexia, Abnormal left ... ORPHA:99827
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Attrv30M Amyloidosis
Diarrhea, Constipation, Weight loss ORPHA:85447
Congenital Myopathy 22A, Classic
Waddling gait, Tricuspid regurgitation, Bradycardia, Mildly elevated creatine kinase OMIM:620351
Al Amyloidosis
Gastrointestinal hemorrhage, Abnormal EKG, Increased circulating NT-proBNP concentration, Howell-... ORPHA:85443
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Combined Oxidative Phosphorylation Deficiency 36
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Aciduria, Elevated c... OMIM:617950
Alstrom Syndrome
Decreased HDL cholesterol concentration, Chronic active hepatitis, Decreased response to growth h... OMIM:203800
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Absent pubic hair,... ORPHA:90793
Acquired Purpura Fulminans
Shock, Elevated circulating C-reactive protein concentration, Intracranial hemorrhage, Acrocyanos... ORPHA:49566
Combined Malonic And Methylmalonic Acidemia
Elevated hepatic transaminase, Dicarboxylic acidemia, Methylmalonic acidemia, Axial hypotonia, Di... ORPHA:289504
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
Chronic Thromboembolic Pulmonary Hypertension
Cardiac shunt, Elevated circulating C-reactive protein concentration, Right ventricular failure, ... ORPHA:70591
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ... ORPHA:529970
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
D-Glyceric Aciduria
Tongue thrusting, Nonketotic hyperglycinemia, Bradycardia OMIM:220120
Complete Atrioventricular Septal Defect
Abnormal EKG, Tachycardia, Left-to-right shunt, Cyanosis, Right ventricular failure, Third heart ... ORPHA:1329
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Small for gestational age, Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus,... OMIM:262190
Autosomal Agammaglobulinemia
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Malabsorption, Diarrhea, Bronchie... ORPHA:33110
Shigellosis
Failure to thrive in infancy, Pneumonia, Anorexia, Abdominal pain, Intestinal perforation, Myocar... ORPHA:810
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Glossopharyngeal Neuralgia
Oral-pharyngeal dysphagia, Jaw claudication, Depression, Syncope, Bradycardia ORPHA:221098
Benign Recurrent Intrahepatic Cholestasis
Nausea and vomiting, Anorexia, Abdominal pain, Chronic diarrhea, Weight loss, Acholic stools, Hep... ORPHA:65682
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Proteinuria, Insulin-resistant diabetes m... ORPHA:79086
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Necrotizing enterocolitis, Abdominal pain, Feeding difficulties, High palate, Vomiting OMIM:616809
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Asymptomatic hyperammonemia, Hy... OMIM:606762
Renal Hypoplasia, Bilateral
Hyponatremia, Cryptorchidism, Hyperkalemia, Hypertension, Lethargy, Anemia ORPHA:97362
Systemic Lupus Erythematosus 17
Autoimmune thrombocytopenia, Raynaud phenomenon, Thrombocytopenia, Leukopenia, Mitral regurgitati... OMIM:301080
Birk-Landau-Perez Syndrome
Hyperkalemia, Limb ataxia, Choreoathetosis, Hypertension, Difficulty walking, Increased circulati... OMIM:617595
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hepatomegaly, Spastic paraplegia, Hypotonia, Hyperammonemia, Spastic diplegia, Hyperornithinemia,... OMIM:238970
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Dysmenorrhea, Elevated circulating creatine kinase concentration, Increased body weight, Hepatic ... ORPHA:264580
Non-Involuting Congenital Hemangioma
Congestive heart failure, Telangiectasia of the skin, Thrombocytopenia ORPHA:141179
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Glutaric Aciduria Iii
Diarrhea, Failure to thrive, Vomiting OMIM:231690
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Hyper-Beta-Alaninemia
Increased urinary taurine, Failure to thrive, Hyperbeta-alaninemia OMIM:237400
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block OMIM:615616
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Increased circulating brain natriuretic peptide ... OMIM:619747
Bernard-Soulier Syndrome
Gastrointestinal hemorrhage, Epistaxis, Impaired ristocetin-induced platelet aggregation, Giant p... OMIM:231200
Transaldolase Deficiency
Thrombocytopenia, Hepatosplenomegaly, Telangiectasia, Abnormal circulating glutamine concentratio... ORPHA:101028
Congenital-Onset Steinert Myotonic Dystrophy
Bradyphrenia, Bundle branch block, Hyperactivity, Short attention span, First degree atrioventric... ORPHA:589821
Mirage Syndrome
Hyponatremia, Hypergonadotropic hypogonadism, Cryptorchidism, Thrombocytopenia, Hyperkalemia, Int... OMIM:617053
Mitochondrial Pyruvate Carrier Deficiency
Increased serum pyruvate, Hepatomegaly, Hypoglycemia, Hypotonia, Organic aciduria, Generalized hy... OMIM:614741
Mpi-Cdg
Gastrointestinal hemorrhage, Diarrhea, Protein-losing enteropathy, Vomiting, Decreased liver func... ORPHA:79319
Familial Hypoaldosteronism
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Hypovolemia, Increased circulating renin lev... ORPHA:427
Obesity And Hypopigmentation
Polyphagia, Hyperinsulinemia, Obesity, Red hair, Hepatic steatosis OMIM:620195
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Arrhythmia, Elevated circulating creatine kinase concentration, Ventricular bigeminy, Left bundle... OMIM:610131
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated urinary 3-hydroxybutyric acid, Dicarboxylic... ORPHA:42
Immunodeficiency 58
Helicobacter pylori infection, Recurrent cutaneous abscess formation, Eczema, Allergic rhinitis, ... OMIM:618131
Iron-Refractory Iron Deficiency Anemia
Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso... OMIM:206200
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Bradycardia OMIM:614498
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Methylmalonic acidemia, Hypomethioninemia, Cryptorchidism, Thrombocytopenia, Hyperhomocystinemia,... OMIM:614857
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Neonatal hypoglycemia, Renal salt wasting, Ambiguous genita... ORPHA:90791
Donohue Syndrome
Precocious puberty, Adipose tissue loss, Long penis, Hyperinsulinemia, Cholestasis, Ovarian cyst,... OMIM:246200
Spermatogenic Failure, X-Linked, 6
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... OMIM:301101
Atypical Werner Syndrome
Abnormal hair whorl, Fasting hyperinsulinemia, Premature graying of hair, Hyperglycemia, Hepatic ... ORPHA:79474
Mitochondrial Neurogastrointestinal Encephalomyopathy
Abnormality of the gastrointestinal tract, Small intestinal dysmotility, Poor appetite, Abdominal... ORPHA:298
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... ORPHA:97279
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Calcinosis, Angina pectoris, Tela... ORPHA:93672
Hypothyroidism Due To Tsh Receptor Mutations
Neonatal hyperbilirubinemia, Increased circulating thyroglobulin level, Bradycardia, Lethargy ORPHA:90673
Mitchell-Riley Syndrome
Absent gallbladder, Jejunal atresia, Intestinal malrotation, Malabsorption, Diarrhea, Anteriorly ... OMIM:615710
Cardiomyopathy, Familial Hypertrophic, 2
Atrial fibrillation, Angina pectoris, Right bundle branch block, Reduced left ventricular ejectio... OMIM:115195
Methionine Malabsorption Syndrome
Aminoaciduria, Diarrhea OMIM:250900
Sulfite Oxidase Deficiency, Isolated
Sulfocysteinuria, Axial hypotonia, Generalized dystonia, Elevated circulating creatine kinase con... OMIM:272300
Primary Peritoneal Carcinoma
Nausea and vomiting, Abdominal pain, Abdominal distention, Peritonitis, Constipation ORPHA:168829
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Conjugated ... OMIM:607765
Dicarboxylic Aminoaciduria
Aminoaciduria, Aspartic aciduria, Nephrolithiasis, Fasting hypoglycemia OMIM:222730
Short Qt Syndrome 3
Shortened QT interval, Tachycardia, Palpitations OMIM:609622
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Broad-based gait, Reticulocytosis, Ataxia, Acanthocytosi... ORPHA:14
Sandhoff Disease, Juvenile Form
Diarrhea, Failure to thrive, Constipation, Dysphagia ORPHA:309162
Acitretin/Etretinate Embryopathy
Third degree atrioventricular block, Hypoplasia of the thymus, Bradycardia ORPHA:40366
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Diarrhea, Lymphocytic infiltratio... ORPHA:436159
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Villous atrophy, Pneumonia, Erythema nodosum, Chronic diarrhea, Recurrent pne... OMIM:614700
Yao Syndrome
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Abdominal pain, Diarrhea, Xerostom... OMIM:617321
Immunodeficiency 56
Failure to thrive, Cholangitis, Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, Recurrent ... OMIM:615207
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Glycos... OMIM:308990
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Bradycardia OMIM:608800
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Skin rash, Pneumonia, Lymphadenitis, Chronic diarrhea, Chron... ORPHA:911
Hemorrhagic Fever-Renal Syndrome
Shock, Tachycardia, Epistaxis, Confusion, Hematemesis, Thrombocytopenia, Leukocytosis, Elevated c... ORPHA:340
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Intracranial hemorrhage, Hypert... ORPHA:231625
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Fanconi-Bickel Syndrome
Fasting hypoglycemia, Hepatomegaly, Ketonuria, Hypouricemia, Elevated circulating aspartate amino... OMIM:227810
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Alopecia, Hypertriglyceridemia, Lipoatrophy, Increa... ORPHA:2457
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... ORPHA:86841
Moyamoya Disease With Early-Onset Achalasia
Raynaud phenomenon, Hypertension, Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Elevated hepatic transaminase, Hepatomegaly, Hyperphosphaturia, Diabetes mellitus, Hypouricemia, ... OMIM:616026
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Colitis, Recurrent sinusitis OMIM:613101
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentration, Splenomegal... OMIM:308240
Rapidly Involuting Congenital Hemangioma
Congestive heart failure, Telangiectasia of the skin, Thrombocytopenia ORPHA:141184
Dengue Fever
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Leukopenia, Hypotension, Lethargy, H... ORPHA:99828
Polycythemia Vera
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... OMIM:263300
Immunodeficiency 69
Diarrhea, Failure to thrive, Skin rash OMIM:618963
Hartnup Disorder
Hyperactivity, Hypertonia, Attention deficit hyperactivity disorder, Episodic ataxia, Neutral hyp... OMIM:234500
Lead Poisoning
Decreased HDL cholesterol concentration, Decreased female libido, Anorexia, Abnormality of the me... ORPHA:330015
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Prolonged QT interval, Pulmonary arterial hypertension, Attention deficit hyperactivity disorder,... OMIM:620029
Cardiomyopathy, Familial Hypertrophic, 8
Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave inversion, Reduced left ve... OMIM:608751
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Diarrhea, Vomiting, Pancreatitis, Abdominal pain OMIM:620137
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... OMIM:194200
Naxos Disease
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:601214
Addison Disease
Hyponatremia, Normocytic anemia, Orthostatic hypotension, Decreased circulating cortisol level, P... ORPHA:85138
Congenital Disorder Of Glycosylation, Type Im
Dilated cardiomyopathy, Bradycardia, Increased circulating free fatty acid level OMIM:610768
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Pseudohypoaldosteronism, Type Iic
Hypertension, Hyperchloremia, Hyperkalemia, Decreased circulating renin level OMIM:614492
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Giant cell hepatitis, Small for gestational age, Nephrogenic diabe... OMIM:208085
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia ORPHA:231393
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Atrial Septal Defect, Ostium Primum Type
Atrial flutter, Tricuspid regurgitation, Abnormally loud pulmonic component of the second heart s... ORPHA:99106
Immunodeficiency 46
Failure to thrive, Chronic diarrhea, Conjunctivitis, Chronic oral candidiasis OMIM:616740
Inflammatory Skin And Bowel Disease, Neonatal, 2
Pustule, Recurrent pneumonia, Secretory diarrhea, Vomiting, Failure to thrive OMIM:616069
Pelvic Organ Prolapse, Susceptibility To
Rectal prolapse, Bowel incontinence OMIM:176780
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Interstitial pneumonitis, Enterocolitis, Ulcerative colitis OMIM:614878
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Hyperphosphaturia, Proteinuria, Ataxia, Spastic tetraparesis, Renal tubular dysfunc... ORPHA:436271
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilocytosis, Ery... OMIM:615631
Eisenmenger Syndrome
Elevated circulating C-reactive protein concentration, Ventricular tachycardia, Iron deficiency a... ORPHA:97214
Platelet Signal Processing Defect
Epistaxis, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregat... OMIM:173590
Overlap Myositis
Elevated circulating creatine kinase concentration, Raynaud phenomenon, Hypertension, Leukopenia,... ORPHA:206572
Cystinosis, Nephropathic
Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuri... OMIM:219800
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hyperammonemia, Ketonuria, Hypoglycemia, Hypotonia, Opisthotonus, Acute hepatic steatosis, ... OMIM:210200
Iminoglycinuria
Hydroxyprolinemia, Hyperglycinuria, Hyperprolinemia, Hyperglycinemia, Prolinuria, Hydroxyprolinuria ORPHA:42062
Chromosome 19P13.13 Deletion Syndrome
Abdominal pain, Diarrhea, Feeding difficulties, Constipation, Vomiting OMIM:613638
Familial Glucocorticoid Deficiency
Decreased circulating cortisol level, Ketotic hypoglycemia, Anorexia, Renal salt wasting, Hypogly... ORPHA:361
Tularemia
Tachycardia, Confusion, Leukocytosis, Anemia, Thrombocytopenia ORPHA:3392
Immunodeficiency 15B
Failure to thrive, Chronic diarrhea, Chronic oral candidiasis OMIM:615592
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol... OMIM:616834
Combined Oxidative Phosphorylation Defect Type 39
Loss of ambulation, Cryptorchidism, Tip-toe gait, Bradycardia ORPHA:565624
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Splenomegaly, Irritability, Loss of ambulation, Thrombocytopenia OMIM:615010
Dpagt1-Cdg
Prolonged QT interval, Ataxia, Akinesia, Aggressive behavior, Inability to walk, Head-banging, In... ORPHA:86309
Nephrotic Syndrome, Type 7
Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia OMIM:615008
Nephronophthisis 2
Hypertension, Elevated circulating creatinine concentration, Pulmonary insufficiency, Hyperkalemia OMIM:602088
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Eczema, Feeding difficulties in infancy, Chronic diarrhea, Chronic mucocutaneous candidiasis, Inf... ORPHA:98813
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Abdominal pain, Intestinal perforation, Pancreatitis, Rectal prolapse, Diarrhea, Elevated circula... ORPHA:90038
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Premature ovarian insufficiency, Elevated circulating creatine kinase concentration, Female infer... OMIM:619518
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Atopic dermatitis, Membranous nephropathy, Colonic eosinophilia,... OMIM:618999
Glucose-Galactose Malabsorption
Abdominal distention, Diarrhea, Hyperactive bowel sounds, Malnutrition, Weight loss, Vomiting, Fa... ORPHA:35710
Brugada Syndrome 4
Shortened QT interval, Syncope, Atrial fibrillation OMIM:611876
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Angina pectoris, Transient ischemic attack, Tel... ORPHA:324
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Hypoglycemia, Inability to walk, Hypotonia, Hyperammonemia, 3-Methylglutaconic aciduria, Generali... OMIM:614739
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Bile Acid Synthesis Defect, Congenital, 2
Failure to thrive, Diarrhea, Hepatic failure, Steatorrhea OMIM:235555
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased body weight, Glucose intolerance, Hepatic steatosis, Alopecia, Increased circulating co... ORPHA:189427
Congenital Disorder Of Glycosylation, Type Ih
Cryptorchidism, Patent ductus arteriosus, Diarrhea, Elevated circulating creatinine concentration... OMIM:608104
Succinic Semialdehyde Dehydrogenase Deficiency
Elevated urinary 4-hydroxybutyric acid, Hyperactivity, Ataxia, Increased level of gamma-aminobuty... OMIM:271980
Congenital Isolated Acth Deficiency
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hypotension ORPHA:199296
Cholestasis, Progressive Familial Intrahepatic, 2
Fat malabsorption, Failure to thrive, Diarrhea, Hepatocellular carcinoma OMIM:601847
Ataxia-Pancytopenia Syndrome
Pancytopenia, Ataxia, Thrombocytopenia, Unsteady gait, Dysmetria, Acute myelomonocytic leukemia, ... OMIM:159550
Cardiomyopathy, Familial Hypertrophic, 4
Transient ischemic attack, Cardiac arrest, Sudden cardiac death, First degree atrioventricular bl... OMIM:115197
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Secretory diarrhea, Tubulointerstitial nephritis, Colitis, Vomiting, Psoriasiform derma... ORPHA:37042
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Congenital Disorder Of Glycosylation, Type Ib
Villous atrophy, Failure to thrive, Diarrhea, Protein-losing enteropathy, Vomiting, Steatorrhea, ... OMIM:602579
Malonyl-Coa Decarboxylase Deficiency
Abdominal pain, Diarrhea, Chronic constipation, Constipation, Vomiting OMIM:248360
Hsd10 Mitochondrial Disease
Restlessness, Elevated circulating tiglylglycine concentration, Hypoglycemia, Aggressive behavior... OMIM:300438
Neuroendocrine Tumor Of The Rectum
Anorexia, Bowel urgency, Abdominal pain, Lack of bowel sounds, Bloody diarrhea, Hematochezia, Mel... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Anorexia, Bowel urgency, Abdominal pain, Lack of bowel sounds, Bloody diarrhea, Hematochezia, Mel... ORPHA:100082
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Failure to thrive in infancy, Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, Colitis OMIM:301220
Maculopapular Cutaneous Mastocytosis
Diarrhea, Vomiting, Nausea, Abdominal pain ORPHA:79457
Radiculoneuropathy, Fatal Neonatal
Chronic diarrhea OMIM:266250
Congenital Disorder Of Glycosylation, Type Iik
Elevated circulating creatine kinase concentration, Thrombocytopenia OMIM:614727
Dopamine Beta-Hydroxylase Deficiency
Abnormal EKG, Orthostatic hypotension, Elevated circulating creatinine concentration, Retrograde ... ORPHA:230
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Axial hypotonia, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Ele... OMIM:245400
Pediatric-Onset Graves Disease
Hyperactivity, Atrial fibrillation, Congestive heart failure, Splenomegaly, Neutropenia in presen... ORPHA:525731
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Loss of ability to walk in early childhood, Elevated circulating creatine kinase concentration, I... OMIM:609560
Dyskeratosis Congenita, Autosomal Recessive 5
Esophageal stenosis, Colitis OMIM:615190
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated hepatic transaminase, Ketonuria, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postp... ORPHA:2089
Hsd10 Disease
Elevated urinary 3-hydroxybutyric acid, Ataxia, Rigidity, Dysphagia, Choreoathetosis, Abnormal ur... ORPHA:391417
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Methemoglobinemia, Beta Type
Cyanosis, Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis, Methemoglobinemia OMIM:617973
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hepatomegaly, Hyperphosphaturia, Proteinuria, Ataxia, Hypotonia, Truncal ataxia, Renal tubular dy... OMIM:220110
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Alopecia, Decreased adipose tissue around neck, Bri... OMIM:608612
Hyperprolinemia, Type Ii
Hydroxyprolinuria, Hyperglycinuria, Hyperprolinemia, Prolinuria OMIM:239510
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Increased VL... OMIM:267700
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Diarrhea, Lymphocytic infiltration of the co... OMIM:616100
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Tachycardia, Hypokalemia, Palpitations OMIM:188580
Methylmalonic Aciduria And Homocystinuria, Cblx Type
Methylmalonic acidemia, Hypotonia, Methylmalonic aciduria, Hyperhomocystinemia, Choreoathetosis, ... OMIM:309541
Sialidosis Type 1
Urinary excretion of sialylated oligosaccharides, Ataxia, Splenomegaly, Increased urinary O-linke... ORPHA:812
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Bradycardia ORPHA:226313
Post-Traumatic Pituitary Deficiency
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Hypoglycemi... ORPHA:95619
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epistaxis, Increased mean pl... OMIM:314050
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Dysmenorrhea, Elevated circulating creatine kinase concentration, Ketotic hypoglycemia, Increased... ORPHA:79240
Autoinflammatory-Pancytopenia Syndrome
Membranoproliferative glomerulonephritis, Chilblains, Intestinal inflammation, Chronic diarrhea, ... OMIM:619858
Ornithine Transcarbamylase Deficiency
Hypoglycemia, Splenomegaly, Hyperammonemia, Aminoaciduria, Hepatic failure ORPHA:664
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, S... OMIM:224120
17Q24.2 Microdeletion Syndrome
Prolonged QT interval, Aggressive behavior, Secondary amenorrhea, Pulmonic stenosis, Emotional la... ORPHA:529962
Propionic Acidemia
Pancytopenia, Thrombocytopenia, Cerebellar hemorrhage, Hyperammonemia, Cardiomyopathy, Hyperglyci... OMIM:606054
Cog7-Cdg
Diarrhea, Failure to thrive, Small for gestational age, Feeding difficulties ORPHA:79333
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Sinusitis, Diarrhea, Recurrent pneumonia, Recurrent otitis ... ORPHA:277
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Cyanosis, Abnormal atrioventricular conduction, Right ventricular failur... ORPHA:439
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Pneumonia, Anorexia, Diarrhea, Recurrent pneumonia, Hepatitis, Protract... ORPHA:169160
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... OMIM:147630
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hepatomegaly, Hyperphosphaturia, Hypercalcemia, Polyuria, Splenomegaly, Primary hyper... OMIM:239200
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, H... OMIM:235400
Congenital Enterovirus Infection
Abnormal macrophage morphology, Myocarditis, Leukocytosis, Thrombocytopenia, Hyperammonemia, Card... ORPHA:292
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartat... OMIM:255120
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Danon Disease
Wolff-Parkinson-White syndrome, Elevated circulating creatine kinase concentration, Congestive he... OMIM:300257
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Tachycardia, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilo... ORPHA:35858
Encephalitis Lethargica
Mental deterioration, Lethargy, Bradycardia ORPHA:83600
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Cryptorchidism, Jaundice, Hypotonia, Joint contrac... OMIM:214110
Microvillus Inclusion Disease
Abdominal distention, Villous atrophy, Abnormal small intestinal villus morphology, Diarrhea ORPHA:2290
Malignant Hyperthermia, Susceptibility To, 2
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154275
Pseudohypoaldosteronism, Type Iib
Hypertension, Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hypertension, Hyperchloremia, Hyperkalemia OMIM:614495
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Acne, Osteomyelitis, Poor appetite, Skin rash, Weight loss, Arthritis, I... ORPHA:324964
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Bradycardia OMIM:619272
Adult Intestinal Botulism
Diarrhea ORPHA:178487
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Transient ischemic attack, Confusion, Myocardial infarction, Schistocytosis, Ele... OMIM:274150
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... ORPHA:158057
Hypokalemic Periodic Paralysis
Fatigable weakness of respiratory muscles, Impaired myocardial contractility, Episodic hypokalemi... ORPHA:681
Pancreatic Triacylglycerol Lipase Deficiency
Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Keratoconjunctivitis sicca, Colitis,... ORPHA:309031
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hypotonia, Hyperglycinuria, Medium cha... OMIM:201450
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Portal hypertension... OMIM:251880
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... ORPHA:232
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Dibasic Amino Aciduria I
Dibasicaminoaciduria, Argininuria, Hyperlysinuria, Ornithinuria OMIM:222690
Atrial Septal Defect, Coronary Sinus Type
Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic component of the second heart ... ORPHA:99104
Riboflavin Deficiency
Dicarboxylic aciduria, Hypoglycemia, Elevated circulating acylcarnitine concentration, Hypotonia,... OMIM:615026
Malignant Hyperthermia, Susceptibility To, 3
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154276
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Pancytopenia, Hypomagnesemia, Thrombocytopenia, Leukopenia, Hyperuricemia, Increase... OMIM:613845
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Hyaline Fibromatosis Syndrome
Diarrhea, Failure to thrive OMIM:228600
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... ORPHA:216694
Dent Disease 2
Elevated circulating aspartate aminotransferase concentration, Elevated circulating creatine kina... OMIM:300555
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic acidemia, Cerebellar hemorrhage, Hyperammonemia, Cardiomyopathy, Leukopenia, Hyperg... OMIM:251000
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Duodenal ulcer, Cachexia, Malabsorption, Chronic diarrhea, Steatorrhea ORPHA:3217
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hypoglycemia, Renal steatosis, Impaired gluconeogenesis, Hepatic failure, Hepatic steatosis OMIM:261650
Mercury Poisoning
Tachycardia, Confusion, Anorexia, Hypertension, Hypokalemia, Hypotension ORPHA:330021
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Hepatomegaly, Flexion contracture, Renal hypoplasia, Lacticaciduria, Aminoaciduria, Hypertonia, 3... OMIM:604273
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Giant platelet syndrome with thrombocytopenia
Gastrointestinal hemorrhage, Giant platelets, Thrombocytopenia OMIM:137560
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Ventricular tachycard... OMIM:600649
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Thrombocytopenia, Hyperammonemia, Choreoathetosis, Neutropenia, Lethargy, Anemia ORPHA:289916
Bangstad Syndrome
Ataxia, Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increased cir... ORPHA:1227
Primary Unilateral Adrenal Hyperplasia
Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Hypertension, Hypokalemia, Palp... ORPHA:231580
Hyperprolinemia Type 1
Nephropathy, Proteinuria, Hyperprolinemia, Prolinuria ORPHA:419
Yellow Fever
Shock, Neutrophilia, Elevated circulating creatine kinase concentration, Supraventricular arrhyth... ORPHA:99829
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Pseudo-Torch Syndrome 3
Cerebral hemorrhage, Increased circulating ferritin concentration, Leukocytosis, Hypertension, Co... OMIM:618886
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Anemia OMIM:619302
Noonan Syndrome 12
Lymphopenia, Thrombocytopenia, Supravalvular aortic stenosis OMIM:618624
Pseudohypoaldosteronism, Type Iie
Hypertension, Hyperchloremia, Hyperkalemia OMIM:614496
Slc35A1-Cdg
Giant platelets, Hypoxemia, Neutropenia, Abnormal platelet granules, Thrombocytopenia, Pulmonary ... ORPHA:238459
Prader-Willi Syndrome
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... OMIM:176270
Sapho Syndrome
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Malabsorption, Abdominal pain, Pustule, ... ORPHA:793
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Unconjugated hyperbilirubinemia, Poiki... OMIM:300908
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Camptodactyly-Taurinuria Syndrome
Camptodactyly of toe, Increased urinary taurine, Aminoaciduria, Camptodactyly of finger ORPHA:1325
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Chylomicron Retention Disease
Abdominal distention, Diarrhea, Vomiting, Steatorrhea, Fat malabsorption, Failure to thrive ORPHA:71
Coronary Arterial Fistula
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... ORPHA:2041
Myh9-Related Disease
Spontaneous, recurrent epistaxis, Increased mean platelet volume, Myocardial infarction, Giant pl... ORPHA:182050
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... OMIM:616950
Pyruvate Carboxylase Deficiency
Increased serum pyruvate, Hepatomegaly, Hypoglycemia, Proximal renal tubular acidosis, Hypotonia,... OMIM:266150
Agammaglobulinemia 6, Autosomal Recessive
Diarrhea, Recurrent pneumonia, Conjunctivitis, Recurrent otitis media, Chronic sinusitis OMIM:612692
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Tricuspid regurgitation, Ataxia, Inability to walk, Dysmetria, Right bundle branch block, Mitral ... OMIM:619576
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Anorexia, Thrombocytopenia, Splenomegaly, Leukopeni... ORPHA:507
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Portal hypertension, Hypersplenism, Thrombocytopenia, Splenomegaly, ... ORPHA:64743
3-Hydroxyisobutyric Aciduria
Aminoaciduria, Failure to thrive OMIM:236795
Stormorken Syndrome
Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Epistaxis, Subarachnoid ... OMIM:185070
Drug-Induced Autoimmune Hemolytic Anemia
Tachycardia, Autoimmune hemolytic anemia, Splenomegaly, Congestive heart failure, Increased total... ORPHA:90037
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Thrombocytopenia, Elevated circulating creatinine concentration, Hypertension, Microangiopathic h... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Thrombocytopenia, Elevated circulating creatinine concentration, Hypertension, Microangiopathic h... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Thrombocytopenia, Elevated circulating creatinine concentration, Hypertension, Microangiopathic h... OMIM:612926
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Lysosomal Acid Lipase Deficiency
Hyponatremia, Psychomotor deterioration, Hypertriglyceridemia, Hypercholesterolemia, Bone-marrow ... ORPHA:275761
Retinal Dystrophy And Microvillus Inclusion Disease
Chronic diarrhea, Bronchiectasis OMIM:619446
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Intestinal Botulism
Nausea and vomiting, Diarrhea, Xerostomia, Dysphagia ORPHA:178481
Corticosteroid-Binding Globulin Deficiency
Decreased circulating cortisol level, Hypertension, Hypokalemia, Hypotension, Anemia OMIM:611489
Blue Diaper Syndrome
Elevated hepatic transaminase, Hypercalcemia, Elevated circulating thyroid-stimulating hormone co... ORPHA:94086
Congenital Disorder Of Glycosylation, Type Iif
Aortic regurgitation, Ataxia, Macrothrombocytopenia, Neutropenia, Decreased platelet glycoprotein... OMIM:603585
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve... OMIM:609040
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... OMIM:108420
Carnitine Palmitoyl Transferase 1A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hypotonia, Renal tubular acidosis, Tra... ORPHA:156
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia ORPHA:1980
Juvenile Neuronal Ceroid Lipofuscinosis
Tachycardia, Depression, Dementia, Progressive language deterioration, Cognitive impairment, Dysp... ORPHA:79264
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Hypomethioninemia, Hypotonia, Hyperhomocystinemia, Gait disturbance, Generalized hypotonia, Failu... OMIM:250940
Spondyloarthropathy, Susceptibility To, 1
Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ... OMIM:106300
Rapadilino Syndrome
High, narrow palate, Diarrhea, Cleft palate, Feeding difficulties, High palate OMIM:266280
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired ristocetin-induced platelet aggregation, Impaired ADP-i... OMIM:619130
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Increased circulating ferritin concentration, Thrombocytopenia, Portal hypertension, Hepatospleno... ORPHA:210136
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Fat malabsorption, Failure to thrive, Diarrhea OMIM:211600
Glutaric Acidemia I
Hepatomegaly, Ketonuria, Hypoglycemia, Rigidity, Glutaric aciduria, Hypotonia, Spastic diplegia, ... OMIM:231670
Immunodeficiency 85 And Autoimmunity
Villous atrophy, Failure to thrive in infancy, Eczema, Chronic diarrhea, Oligoarthritis, Erythrod... OMIM:619510
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia ORPHA:46532
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Tachycardia, Elevated circulating creatine kinase concentration, Highly elevated creatine kinase,... ORPHA:368
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Thrombocytopenia, Elevated circulating creatinine concentration, Hypertension, Microangiopathic h... OMIM:612924
Hereditary Pulmonary Alveolar Proteinosis
Abnormal circulating protein concentration, Tachycardia, Elevated carcinoembryonic antigen level,... ORPHA:264675
Periodic Fever, Familial, Autosomal Dominant
Gastrointestinal hemorrhage, Myositis, Maculopapular exanthema, Skin rash, Abdominal pain, Chroni... OMIM:142680
Paroxysmal Nocturnal Hemoglobinuria
Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Myocardial infarction, Pul... ORPHA:447
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Elevated left ventricular end-diastolic diameter, Dilated cardiomyopathy, Hypokalem... OMIM:620152
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Platelet anisocytosis, Epistaxis, Increased mean platelet volume OMIM:615193
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Abnormal hair morphology, Long penis, Oligozoospermia, Atte... ORPHA:3000
Proximal Spinal Muscular Atrophy
Inability to walk, Bradycardia, Difficulty walking, Dysphagia ORPHA:70
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Methylmalonic acidemia, Hypomethioninemia, Hypotonia, Methylmalonic aciduria, Hyperhomocystinemia... OMIM:236270
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Thrombocytopenia, Elevated circulating creatinine concentration, Hypertension, Microangiopathic h... OMIM:612925
Holocarboxylase Synthetase Deficiency
Ataxia, Anorexia, Hyperammonemia, Irritability, Lethargy, Thrombocytopenia ORPHA:79242
Osteopetrosis, Autosomal Recessive 9
Elevated circulating creatinine concentration, Hyperkalemia, Anemia OMIM:620366
Neuroendocrine Tumor Of The Colon
Bowel urgency, Anorexia, Abdominal pain, Lack of bowel sounds, Bloody diarrhea, Melena, Protracte... ORPHA:100080
Hemochromatosis, Type 1
Elevated hepatic transaminase, Hepatomegaly, Alopecia, Diabetes mellitus, Hypogonadotropic hypogo... OMIM:235200
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hy... OMIM:306000
Colchicine Poisoning
Hyponatremia, Myocarditis, Congestive heart failure, Leukocytosis, Hypovolemia, Abnormal blood io... ORPHA:31824
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:268200
Camptodactyly 1
Increased urinary taurine, Camptodactyly of finger OMIM:114200
45,X/46,Xy Mixed Gonadal Dysgenesis
Prolonged QT interval, Male infertility, Tachycardia, Streak ovary, Unilateral cryptorchidism, Bi... ORPHA:1772
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, High-ou... ORPHA:231222
American Trypanosomiasis
Aganglionic megacolon, Skin rash, Abnormal large intestine physiology, Abdominal pain, Myocarditi... ORPHA:3386
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Epistaxis, Intracranial hemorrhage, Hypertension, Second degree atrioventricular block, Hyperaldo... ORPHA:369929
Thrombocytopenia 5
Epistaxis, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Increased mean corpuscular volume, N... OMIM:616216
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Pneumonia, Malabsorption, Protruding tongue, Diarrhea, Bronchiectasis, Macroglossia, F... OMIM:242860
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hepatic fibrosis, Hypoalbuminemia,... ORPHA:247585
Leprechaunism
Nephrocalcinosis, Increased circulating renin level, Recurrent infantile hypoglycemia, Fasting hy... ORPHA:508
Maple Syrup Urine Disease
Elevated circulating branched chain amino acid concentration, Increased level of hippuric acid in... OMIM:248600
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachycardia, Confusion, Heart block, Elevated circulating creatinine concentration, Capillary lea... ORPHA:542323
Botulism
Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Constipation, Dysphagia ORPHA:1267
Porphyria, Acute Intermittent
Abdominal pain, Diarrhea, Paralytic ileus, Vomiting, Constipation, Hepatocellular carcinoma, Nausea OMIM:176000
Cardiomyopathy, Dilated, 1G
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... OMIM:604145
Carnitine-Acylcarnitine Translocase Deficiency
Elevated creatine kinase after exercise, Cyanosis, Elevated circulating acylcarnitine concentrati... ORPHA:159
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level OMIM:620126
Immunodeficiency 97 With Autoinflammation
Recurrent skin infections, Eczema, Abdominal pain, Diarrhea, Enterocolitis, Colitis, Recurrent ot... OMIM:619802
Mitochondrial Complex I Deficiency, Nuclear Type 33
Axial hypotonia, Small for gestational age, Hypospadias, Hypoglycemia, Hyperammonemia, Sparse hai... OMIM:618253
Hereditary Amyloidosis With Primary Renal Involvement
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Nephropathy, Decreased glo... ORPHA:85450
Hemoglobin H Disease
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Elevated circulating C-reactive protein concentration, Hepatosplenomegaly, Monocyto... OMIM:619644
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Small for gestational age, Elevated circulating creatine kinase concentration, Hypoglycemia, Spas... OMIM:619055
Beta-Thalassemia Major
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... ORPHA:231214
Diffuse Alveolar Hemorrhage
Thrombocytopenia, Leukocytosis, Elevated circulating creatinine concentration, Hypoxemia, Pulmona... ORPHA:90060
Graft Versus Host Disease
Myositis, Fasciitis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Ab... ORPHA:39812
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Cyanosis, Junct... ORPHA:137675
Avian Influenza
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:454836
Wolfram Syndrome 1
Sideroblastic anemia, Ataxia, Megaloblastic anemia, Cardiomyopathy, Dysphagia, Testicular atrophy... OMIM:222300
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Acute hyperammonemia, Ketonuria, Hypoglycemia, Alopecia, Hypotonia, Hyperammonemia, Opisthotonus,... OMIM:210210
Hypoadrenocorticism, Familial
Hyponatremia, Cyanosis, Hyperkalemia OMIM:240200
Hb Bart'S Hydrops Fetalis
Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Anemia ORPHA:163596
Erythermalgia, Primary
Keratoconjunctivitis sicca, Diarrhea, Xerostomia, Constipation OMIM:133020
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Methylmalonic acidemia, Small for gestational age, Elevated circulating creatine kinase concentra... OMIM:612073
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Anorexia, Colitis, Vomiting, Intractable diarrhea, Pustular rash, Abdominal pain... OMIM:619381
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Macrothrombocytopenia, Menorrhagia, Thrombocytopenia OMIM:124900
Carbamoyl-Phosphate Synthetase 1 Deficiency
Hypotonia, Hyperammonemia, Episodic ammonia intoxication, Aminoaciduria, Hypoargininemia ORPHA:147
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Cerebral vasculitis, Hyponatremia, Confusion, Leukocytosis, Depression, Thrombocytopenia ORPHA:83601
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Anorexia, Hepatosplenomegaly, Decreased mean corpuscular volum... OMIM:611590
Sitosterolemia 1
Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro... OMIM:210250
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Viral hepatitis, Glomerulonephritis, Abdominal pain, Fulminant hepat... ORPHA:2137
Hereditary Folate Malabsorption
Nausea and vomiting, Anorexia, Diarrhea, Cheilitis, Gastroesophageal reflux, Failure to thrive, G... ORPHA:90045
Bacterial Toxic-Shock Syndrome
Shock, Tachycardia, Elevated circulating creatine kinase concentration, Confusion, Myocarditis, E... ORPHA:36234
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Anorexia, Hypersplenism, Thromboc... ORPHA:98850
Congenital Disorder Of Glycosylation, Type Id
Villous atrophy, Diarrhea, High palate, Vomiting, Failure to thrive, Bifid uvula OMIM:601110
Body Mass Index Quantitative Trait Locus 20
Polyphagia, Hyperinsulinemia, Obesity OMIM:618406
Complement Component 5 Deficiency
Intractable diarrhea, Generalized seborrheic dermatitis OMIM:609536
Ppoma
Anorexia, Poor appetite, Lack of bowel sounds, Episodic abdominal pain, Constipation, Intestinal ... ORPHA:97278
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Hypoglycemia, Elevated circulating creatine kinase concentration, Ankle flexion contracture, Hype... OMIM:618120
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia, Hypoproteinemia OMIM:221400
Encephalopathy Due To Sulfite Oxidase Deficiency
Spasticity, Aminoaciduria, Ataxia, Spastic tetraparesis ORPHA:833
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Recurrent pneumonia, Bloody diarrhea, Hematochezia, Inflammation of the large intestin... OMIM:617718
Ebstein Anomaly
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ventricular preexcitation, Right bu... OMIM:224700
Saccharopinuria
Citrullinuria, Hypercystinemia, Hyperammonemia, Spastic diplegia, Cystinuria, Gait ataxia, Hyperl... ORPHA:3124
Iminoglycinuria
Hydroxyprolinuria, Hyperglycinuria, Prolinuria OMIM:242600
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Poor appetite, Abdomina... ORPHA:319218
Lowe Oculocerebrorenal Syndrome
Elevated circulating creatine kinase concentration, Bicarbonaturia, Aminoaciduria, Renal Fanconi ... OMIM:309000
Severe Combined Immunodeficiency, X-Linked
Skin rash, Pneumonia, Chronic diarrhea, Recurrent pneumonia, Hypoplasia of the thymus, Chronic or... OMIM:300400
Hereditary Coproporphyria
Hyponatremia, Abnormal circulating porphyrin concentration, Tachycardia, Anemia ORPHA:79273
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Abnormal EKG, Pulmonic stenosis OMIM:178650
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Ichthyosis, Split Hairs, And Amino Aciduria
Abnormal hair morphology, Aminoaciduria OMIM:242550
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Typhoid
Gastrointestinal hemorrhage, Skin rash, Abdominal pain, Diarrhea, Constipation, Infectious enceph... ORPHA:99745
Isovaleric Acidemia
Pancytopenia, Cerebellar hemorrhage, Leukopenia, Lethargy, Thrombocytopenia OMIM:243500
Immunodeficiency, Common Variable, 2
Diarrhea, Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recurrent sinusitis, Recurrent oti... OMIM:240500
Adrenocortical Carcinoma
Paradoxical increased cortisol secretion on dexamethasone suppression test, Abnormality of reprod... ORPHA:1501
Wilson Disease
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Aminoaciduria, Hypoalbu... OMIM:277900
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tachycardia, Hypokalemia OMIM:613239
Pancreatoblastoma
Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Vomiting ORPHA:677
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Right axis deviation, Increased circulating NT-proBNP concentrati... OMIM:232300
Hyperchlorhidrosis, Isolated
Hyponatremia, Hyperkalemia OMIM:143860
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti... ORPHA:289548
Cog4-Cdg
Ataxia, Hepatosplenomegaly, Irritability, Hypercholesterolemia, Thrombocytopenia ORPHA:263501
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, Neonatal hypoglycem... ORPHA:168558
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Abdominal pain, Perianal abscess, Peritonitis, Enterocoliti... ORPHA:2686
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent otitis media, Diarrhea, Failure to thrive, Lymphocytic interstitial pneumonia OMIM:618495
Spontaneous Periodic Hypothermia
Nausea and vomiting, Diarrhea, Skin rash ORPHA:29822
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Malabsorption, Chroni... ORPHA:47
Immunodeficiency 27A
Increased inflammatory response, Pneumonia, Anorexia, Diarrhea, Weight loss, Salmonella osteomyel... OMIM:209950
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Hypertension, Second degree atrioventricular block, Hypokalemia, Athetosis, Primary hyperaldoster... OMIM:615474
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Ataxia, Severe temper tantrums, Aggressive behavior, Dysmetria, Cardiomyopathy, Athetosis, Thromb... OMIM:617710
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo... ORPHA:73263
Gaucher Disease, Type Iii
Pancytopenia, Ataxia, Progressive neurologic deterioration, Splenomegaly, Depression, Dementia, T... OMIM:231000
Immunodeficiency 17
Eczema, Chronic diarrhea, Abnormal intestine morphology, Anoperineal fistula, Recurrent gastroent... OMIM:615607
Medullary Thyroid Carcinoma
Diarrhea, Primary hyperparathyroidism, Weight loss, Pheochromocytoma, Dysphagia, Nodular goiter ORPHA:1332
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Small scrotum, Renal cyst, Hypertonia, Hypoalbuminemia, Generalized hypotonia, Hyp... OMIM:270400
Bleeding Disorder, Platelet-Type, 24
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... OMIM:619271
Familial Pancreatic Carcinoma
Nausea and vomiting, Pancreatic adenocarcinoma, Intestinal pseudo-obstruction, Functional intesti... ORPHA:1333
Cholesteryl Ester Storage Disease
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Portal hypertension, Bone-marrow f... OMIM:278000
Acute Promyelocytic Leukemia
Pancytopenia, Metrorrhagia, Epistaxis, Anorexia, Diffuse alveolar hemorrhage, Thrombocytopenia, L... ORPHA:520
Glucocorticoid Resistance, Generalized
Hypoglycemia, Irregular menstruation, Increased circulating ACTH level, Increased circulating cor... OMIM:615962
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Decreased circulating cortisol level, Neonatal hypoglycemia, Renal salt wasti... ORPHA:90794
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Eczema, Keratitis, Chronic diarrhea, Bronchiectasis, Macroglossia, Recurrent otitis media OMIM:618523
High Altitude Pulmonary Edema
Tachycardia, Cyanosis, Anorexia, Leukocytosis, Hypoxemia ORPHA:330012
Lymphoproliferative Syndrome 1
Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... OMIM:613011
Cholera
Hyponatremia, Tachycardia, Abnormal blood ion concentration, Irritability, Hypovolemic shock, Hyp... ORPHA:173
Hyperprolinemia Type 2
Abdominal pain, Diarrhea, Feeding difficulties, Prolinuria, Dysphagia, Hydroxyprolinuria ORPHA:79101
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Glutaric aciduria, Jaundice, Hypotonia, Renal cortical cysts, General... OMIM:231680
Foodborne Botulism
Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Constipation, Dysphagia ORPHA:228371
Pyoderma Gangrenosum
Pustule, Inflammation of the large intestine, Rheumatoid arthritis, Myositis ORPHA:48104
Primary Myelofibrosis
Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Anorexia, Thrombocytopenia, Leuk... ORPHA:824
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Pancytopenia, Hypertriglyceridemia, Ataxia, Increased circulating ferritin concentr... OMIM:603553
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Amegakaryocytic Thrombocytopenia, Congenital, 1
Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia OMIM:604498
Immunodeficiency, Common Variable, 1
Pneumonia, Diarrhea, Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recurrent sinusitis, Re... OMIM:607594
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Poor appetite, Reye syndrome-like episodes, Diarrhea, Feeding difficulties, Vomiting, Failure to ... ORPHA:927
Aicardi-Goutieres Syndrome 3
Thrombocytopenia, Hepatosplenomegaly OMIM:610329
Dyskeratosis Congenita, Autosomal Recessive 8
Oral leukoplakia, Pancolitis, Inflammation of the large intestine, Esophageal stricture OMIM:620133
Silver-Russell Syndrome Due To A Point Mutation
Bifid scrotum, Inguinal hernia, Hypospadias, Dysmenorrhea, Small for gestational age, Hypoglycemi... ORPHA:397590
Tyrosinemia Type 1
Acute hepatic failure, Hepatomegaly, Splenomegaly, Generalized aminoaciduria, Hepatocellular carc... ORPHA:882
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Myocardial infarction, Hyperlipidemia, Elevated circula... OMIM:144250
Hypothyroidism, Congenital, Nongoitrous, 2
Lethargy, Increased circulating thyroglobulin level, Bradycardia, Hyperbilirubinemia OMIM:218700
Eosinophilia, Familial
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia OMIM:131400
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia OMIM:133180
Refractory Celiac Disease
Villous atrophy, Inflammatory abnormality of the skin, Malabsorption, Abdominal pain, Chronic dia... ORPHA:398063
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
Intellectual Developmental Disorder, Autosomal Dominant 51
Unilateral cryptorchidism, Cryptorchidism, Chronic diarrhea, Feeding difficulties, Chronic consti... OMIM:617788
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Hypercalcemia, Anemia ORPHA:2123
Premature Ovarian Failure 6
Streak ovary, Premature ovarian insufficiency, Female infertility, Elevated circulating luteinizi... OMIM:612310
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Increased level of hippuric acid in urine, Hypoglycemia, Glutaric aciduria, Hypoton... OMIM:246450
Hydroxykynureninuria
Jaundice, Aminoaciduria OMIM:236800
Bachmann-Bupp Syndrome
Lower limb spasticity, Absent eyebrow, Sparse scalp hair, Hypoglycemia, Sparse eyelashes, Large f... OMIM:619075
Pituitary Stalk Interruption Syndrome
Hypoplasia of penis, Ectopic posterior pituitary, Failure to thrive, Hypoglycemia, Adrenal hypopl... ORPHA:95496
Secondary Intestinal Lymphangiectasia
Lymphopenia, Right ventricular failure, Reduced circulating transferrin concentration, Intestinal... ORPHA:90363
Propionic Acidemia
Hepatomegaly, Organic aciduria, Hypoglycemia, Hyperammonemia ORPHA:35
Forsythe-Wakeling Syndrome
Thrombocytopenia OMIM:613606
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Mandibuloacral Dysplasia With Type A Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Reduced subcutaneous adipose tissue, ... OMIM:248370
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Brittle hair, Cholangitis, Microvesicular hepatic steatosis, Tubulointerstitial nephritis, Aminoa... OMIM:124000
Estrogen Resistance
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... OMIM:615363
Catastrophic Antiphospholipid Syndrome
Angina pectoris, Transient ischemic attack, Myocardial infarction, Pulmonary embolism, Arterial o... ORPHA:464343
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Failure to thrive, Chronic diarrhea OMIM:615285
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia, Autoimmune hemolytic anemia, Increased total bilirubin ORPHA:90036
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin OMIM:618528
Paroxysmal Nocturnal Hemoglobinuria 2
Diarrhea, Abdominal pain OMIM:615399
Ebstein Malformation Of The Tricuspid Valve
Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Right bundle branch block, C... ORPHA:1880
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Intestinal obstruction, Malabsorption, Abdominal pain, Diarrhea, Abnormal intestine morphology, V... OMIM:226300
Adiposis Dolorosa
Recurrent skin infections, Diarrhea, Xerostomia, Obesity, Arthritis, Constipation ORPHA:36397
Immunodeficiency 32B
Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burst, Hypoalbumin... OMIM:226990
Bile Acid Synthesis Defect, Congenital, 3
Failure to thrive, Diarrhea, Hepatitis, Hematochezia, Acholic stools, Bile duct proliferation, St... OMIM:613812
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... OMIM:603902
Acquired Hypertrichosis Lanuginosa
Poor appetite, Chronic diarrhea, Ovarian neoplasm, Weight loss, Macroglossia, Glossitis ORPHA:2221
Hyperaldosteronism, Familial, Type Ii
Hypertension, Hypokalemia, Hyperaldosteronism OMIM:605635
Inhalational Botulism
Nausea and vomiting, Diarrhea, Xerostomia, Constipation ORPHA:254504
Alg1-Cdg
Abnormality of the gastrointestinal tract, Chronic diarrhea, Protein-losing enteropathy, Decrease... ORPHA:79327
Congenital Disorder Of Glycosylation, Type Iij
Chronic diarrhea, Feeding difficulties, Hepatic failure, Failure to thrive, Recurrent infection o... OMIM:613489
47,Xyy Syndrome
Male infertility, Neonatal hypotonia, Hyperactivity, Hypospadias, Impulsivity, Cryptorchidism, In... ORPHA:8
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Lethargy, Hypoglycemia, Hypotonia, 2-ethylhydracylic aciduria OMIM:610006
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypoglycemia, Elevated circulati... ORPHA:26791
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Leukemia, Anemia, Neutropenia OMIM:614082
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Alopecia, Streak ovary, Premature ovarian insufficien... ORPHA:3464
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Anal fissure, Eczema, Perianal abscess, Lymphadenitis, Recurrent pneumonia, U... OMIM:618935
Kaufman Oculocerebrofacial Syndrome
Axial hypotonia, Ovoid vertebral bodies, Sparse eyebrow, Hypotonia, Hypoplastic labia majora, Gen... OMIM:244450
Porphyria Due To Ala Dehydratase Deficiency
Increased fecal coproporphyrin 3, Abdominal pain, Abdominal distention, Diarrhea, Constipation, E... ORPHA:100924
Wt Limb-Blood Syndrome
Pancytopenia, Cryptorchidism, Leukemia, Hypoplastic anemia, Thrombocytopenia OMIM:194350
Hyperzincemia With Functional Zinc Depletion
Diarrhea, Skin rash OMIM:601979
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hemolytic anemia, Ataxia, Conjugated hyperbilirubinemia, Inability to walk, Splenomegaly, Hyperka... OMIM:608885
Familial Hyperaldosteronism Type I
Epistaxis, Intracranial hemorrhage, Hypertension, Hypokalemia, Dexamethasone-suppressible primary... ORPHA:403
Cyanosis, Transient Neonatal
Reticulocytosis, Cyanosis, Methemoglobinemia, Anemia OMIM:613977
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Bloody diarrhea, Feeding difficulties OMIM:615119
Hyperparathyroidism-Jaw Tumor Syndrome
Hypercalcemia, Testicular neoplasm, Shortened QT interval, Hypophosphatemia, Dysphagia, Polydipsia ORPHA:99880
Leigh Syndrome
Multiple joint contractures, Choreoathetosis, Complex organic aciduria, Frontal hirsutism, Alopec... ORPHA:506
Caspase 8 Deficiency
Pneumonia, Failure to thrive, Chronic diarrhea, Eczema OMIM:607271
Reactive Arthritis
Pericarditis, Osteomyelitis, Abdominal pain, Pustule, Diarrhea, Enthesitis, Weight loss, Arthriti... ORPHA:29207
Atypical Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:2134
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hy... OMIM:613027
Homocarnosinosis
Spastic paraplegia, Carnosinuria OMIM:236130
Neuroendocrine Tumor Of Stomach
Nausea and vomiting, Poor appetite, Anorexia, Hematemesis, Bowel urgency, Lack of bowel sounds, B... ORPHA:100075
Neuroendocrine Neoplasm Of Appendix
Nausea and vomiting, Abdominal colic, Mechanical ileus, Functional intestinal obstruction, Anorex... ORPHA:100079
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Diarrhea, Recurrent pneumonia, Bronchiectasis, Recurrent aphthous stomatitis, Chronic oral candid... OMIM:150550
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Ataxia, Elevated circulating creatine kinase concentration, Cachexia, Methylmalonic aciduria, Ami... ORPHA:1933
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Peritonitis, Diarrhea, Arthr... ORPHA:343
Pancreatic Lipase Deficiency
Hypocholesterolemia, Steatorrhea OMIM:614338
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, T... ORPHA:470
Glutamate-Cysteine Ligase Deficiency
Jaundice, Aminoaciduria, Ataxia, Hepatosplenomegaly ORPHA:33574
Turner Syndrome Due To Structural X Chromosome Anomalies
Ectopic kidney, Short neck, Glucose intolerance, Hepatic fibrosis, Hepatic steatosis, Hashimoto t... ORPHA:99413
Mosaic Monosomy X
Ectopic kidney, Short neck, Glucose intolerance, Hepatic fibrosis, Hepatic steatosis, Hashimoto t... ORPHA:99228
Monosomy X
Ectopic kidney, Short neck, Glucose intolerance, Hepatic fibrosis, Hepatic steatosis, Hashimoto t... ORPHA:99226
Turner Syndrome
Ectopic kidney, Short neck, Glucose intolerance, Hepatic fibrosis, Hepatic steatosis, Hashimoto t... ORPHA:881
Hermansky-Pudlak Syndrome 1
Hematochezia, Inflammation of the large intestine, Colitis, Abdominal pain OMIM:203300
Premature Ovarian Failure 13
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... OMIM:617442
Aa Amyloidosis
Abdominal pain, Malabsorption, Chronic diarrhea, Malnutrition, Vomiting, Nausea ORPHA:85445
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Cognitive ... ORPHA:846
Juvenile Nephropathic Cystinosis
Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuria, Hypocalcem... ORPHA:411634
Satoyoshi Syndrome
Diarrhea, Malabsorption OMIM:600705
Pulmonary Hypertension, Primary, 4
Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs... OMIM:615344
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate
Increased urine alpha-ketoglutarate concentration, Increased urine succinate level, Ataxia, Eleva... OMIM:618384
Congenital Toxoplasmosis
Diarrhea, Failure to thrive in infancy ORPHA:858
Cystinuria
Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias... OMIM:220100
Peroxisome Biogenesis Disorder 1A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Hypospadias, Adrenal hypoplasia, Cryptorchidism, U... OMIM:214100
Parathyroid Carcinoma
Hypercalcemia, Testicular neoplasm, Shortened QT interval, Hypophosphatemia, Dysphagia, Polydipsia ORPHA:143
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Cachexia, Abdominal pain, High, narrow palate, Rectal prolapse, Aden... ORPHA:79076
Hyperlipoproteinemia, Type Id
Failure to thrive, Colitis, Recurrent pancreatitis, Pancreatitis OMIM:615947
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Tachycardia, Neutrophilia, Eosinophilia, Splenomegaly,... ORPHA:98849
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec... ORPHA:90796
Autoimmune Lymphoproliferative Syndrome, Type Iia
Gastrointestinal hemorrhage, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopen... OMIM:603909
Dubowitz Syndrome
Sparse scalp hair, Inguinal hernia, Hyperactivity, Hypospadias, Sacral dimple, Cryptorchidism, Hy... OMIM:223370
Premature Ovarian Failure 20
Secondary amenorrhea, Elevated circulating luteinizing hormone level, Elevated circulating follic... OMIM:619938
Tiglic Acidemia
Aminoaciduria OMIM:275190
Congenital Disorder Of Glycosylation, Type Iil
Patent ductus arteriosus, Chronic diarrhea, Esophageal varix, Inflammation of the large intestine... OMIM:614576
Grfoma
Anorexia, Poor appetite, Lack of bowel sounds, Zollinger-Ellison syndrome, Pheochromocytoma, Epis... ORPHA:97261
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Ureteral duplication, Elevated circulating creatine kinase concentration, Knee flexion contractur... OMIM:608836
Zollinger-Ellison Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Hyperparathyroidism, Duodenal ulcer, Peptic ... ORPHA:913
Congenital Disorder Of Glycosylation, Type Ii
Diarrhea, Gastroesophageal reflux, High palate, Decreased body weight, Nasogastric tube feeding OMIM:607906
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Ketonuria, Hypoglycemia, Elevated circulating alanine aminotransferase concentratio... OMIM:261680
Acute Myelomonocytic Leukemia
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia ORPHA:517
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia, Decreased circulating cortisol level, Severe B lymphocytopenia, Autoimmune thromboc... ORPHA:293978
Pituitary Adenoma 4, Acth-Secreting
Impaired glucose tolerance, Kyphosis, Pituitary adenoma, Obesity, Increased circulating ACTH leve... OMIM:219090
Chédiak-Higashi Syndrome
Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Hyponatremia, Ataxi... ORPHA:167
Vexas Syndrome
Thrombocytopenia, Macrocytic anemia, Arteritis, Elevated circulating C-reactive protein concentra... OMIM:301054
Beta-Ketothiolase Deficiency
Hepatomegaly, Ketonuria, Ataxia, Hypoglycemia, Anorexia, Hypotonia, Hyperammonemia, Weight loss, ... ORPHA:134
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia OMIM:609153
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Quebec Platelet Disorder
Epistaxis, Menorrhagia, Joint hemorrhage, Thrombocytopenia, Impaired epinephrine-induced platelet... OMIM:601709
Bleeding Disorder, Platelet-Type, 16
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat... OMIM:187800
Rabson-Mendenhall Syndrome
Fasting hyperinsulinemia, Low anterior hairline, Nephrocalcinosis, Premature graying of hair, Fas... ORPHA:769
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt... OMIM:616959
Kaposi Sarcoma
Abnormality of the gastrointestinal tract, Diarrhea, Skin rash, Weight loss ORPHA:33276
Mucopolysaccharidosis-Plus Syndrome
Inability to walk, Congestive heart failure, Thrombocytopenia, Splenomegaly, Leukopenia, Hypoalbu... OMIM:617303
Immunodeficiency 7
Recurrent otitis media, Diarrhea, Failure to thrive, Chronic oral candidiasis OMIM:615387
Fanconi Renotubular Syndrome 2
Renal insufficiency, Proteinuria, Hypercalciuria, Generalized aminoaciduria, Renal phosphate wast... OMIM:613388
Abnormal Hair, Joint Laxity, And Developmental Delay
Tricuspid regurgitation, Impulsivity, Aggressive behavior, Sinus bradycardia, Mitral regurgitation OMIM:261990
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Epistaxis, Increased mean platelet volume, Impaired ristocetin-induced platelet... OMIM:153670
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Eczema, Glomerulonephritis, Chronic diarrhea, Ileus, Hepatitis, Arthritis, Eryth... OMIM:304790
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Duplicated collecting system, Small for gestational age, Elevated circulating aspartate aminotran... OMIM:617093
Sarcosinemia
Hypersarcosinuria, Hypersarcosinemia, Ataxia, Infantile muscular hypotonia ORPHA:3129
Noonan Syndrome With Multiple Lentigines
Bundle branch block, Myocardial infarction, Cryptorchidism, Decreased fertility, Arrhythmia, Pulm... ORPHA:500
Apparent Mineralocorticoid Excess
Hypertension, Hypokalemia, Decreased circulating renin level OMIM:218030
Schimke Immuno-Osseous Dysplasia
Transient ischemic attack, Congestive heart failure, Hyperlipidemia, Thrombocytopenia, Hypertensi... ORPHA:1830
Carnosinase Deficiency
Carnosinuria ORPHA:1361
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... OMIM:603471
Estrogen Resistance Syndrome
Abnormality of the pubic hair, Enlarged polycystic ovaries, Increased circulating gonadotropin le... ORPHA:785
Dent Disease
Elevated circulating creatine kinase concentration, Nephrocalcinosis, Aminoaciduria, Low-molecula... ORPHA:1652
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l... ORPHA:99429
Bile Acid Malabsorption, Primary, 2
Chronic diarrhea, Steatorrhea OMIM:619481
Phosphoglycerate Dehydrogenase Deficiency
Decreased testicular size, Thrombocytopenia, Megaloblastic anemia OMIM:601815
Macrophage Activation Syndrome
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increased circulatin... ORPHA:158061
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome
Aminoaciduria ORPHA:79156
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Elevated circulating alpha-fetoprotein concentration, Neutropenia OMIM:617243
Simpson-Golabi-Behmel Syndrome
Prolonged QT interval, Bundle branch block, Cryptorchidism, Splenomegaly, Cardiomyopathy, Polyspl... ORPHA:373
Friedreich Ataxia
Abnormal EKG, Ataxia, Congestive heart failure, Limb ataxia, Gait ataxia, Hypertrophic cardiomyop... OMIM:229300
Hyperlysinuria With Hyperammonemia
Dibasicaminoaciduria, Hyperammonemia, Hyperlysinuria, Lethargy, Hyperlysinemia OMIM:238750
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Lethargy, Abnormal circulating thyroglobulin level, Hypogonadotropic hypogonadism, Bradycardia ORPHA:226307
Combined Oxidative Phosphorylation Deficiency 37
Elevated hepatic transaminase, Axial hypotonia, Hypoglycemia, Hypotonia, 3-Methylglutaconic acidu... OMIM:618329
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Episodic vomiting, Necrotizing enterocolitis, Gastroesophageal reflux, Hepatocellular necrosis OMIM:201475
Gray Platelet Syndrome
Impaired thrombin-induced platelet aggregation, Epistaxis, Abnormal number of alpha granules, Spl... OMIM:139090
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Nephrolithiasis, Obstructive azoospermia OMIM:301060
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... OMIM:300835
Primary Familial Polycythemia
Abnormal hemoglobin, Polycythemia, Epistaxis ORPHA:90042
Carnosinemia
Carnosinuria OMIM:212200
Fanconi Renotubular Syndrome 1
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... OMIM:134600
Hyperaldosteronism, Familial, Type Iii
Hypertension, Hypokalemia, Hyperaldosteronism, Polydipsia, Decreased circulating renin level OMIM:613677
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Systemic Lupus Erythematosus
Thrombocytopenia, Hemolytic anemia, Pericarditis, Leukopenia OMIM:152700
Microscopic Polyangiitis
Gastrointestinal hemorrhage, Nausea and vomiting, Episcleritis, Sinusitis, Increased inflammatory... ORPHA:727
Cutaneous Mastocytoma
Maculopapular exanthema, Abdominal pain, Diarrhea, Vomiting, Nausea ORPHA:79455
Gaucher Disease, Type I
Pancytopenia, Epistaxis, Hypersplenism, Thrombocytopenia, Splenomegaly, Hypertension, Mitral regu... OMIM:230800
Somatostatinoma
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Intestinal obstruction, Nausea and vomitin... ORPHA:97283
Celiac Disease, Susceptibility To, 1
Eczema, Abdominal pain, Celiac disease, Abdominal distention, Diarrhea, Thyroiditis, Weight loss,... OMIM:212750
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Elevated circulating creatine kinase concentration, Cryptorchidism, Abnormal left ventricular fun... OMIM:301056
Multiple Endocrine Neoplasia Type 1
Short attention span, Hypercalcemia, Confusion, Anorexia, Shortened QT interval, Hematemesis, Dep... ORPHA:652
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypotonia, Generalized aminoaciduria, Elevated circulating parathyroid hormone level, Hypocalcemi... OMIM:264700
Ethylmalonic Encephalopathy
Diarrhea, Failure to thrive ORPHA:51188
Wilson Disease
Aggressive behavior, Abnormality of the menstrual cycle, Hypersexuality, Thrombocytopenia, Spleno... ORPHA:905
Hyperkalemic Periodic Paralysis
Hyperkalemia OMIM:170500
Von Willebrand Disease, Type 3
Epistaxis, Joint hemorrhage, Menorrhagia, Impaired platelet aggregation, Thrombocytopenia OMIM:277480
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Retinal hemorrhage, Hypertension, Tachycardia, Bradycardia OMIM:614653
Rat-Bite Fever
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... ORPHA:31205
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Frontal balding, Precocious ... ORPHA:786
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Diarrhea, Nausea, Poor appetite, Dysphagia ORPHA:352447
Fructose Intolerance, Hereditary
Elevated hepatic transaminase, Hepatomegaly, Transient aminoaciduria, Hyperphosphaturia, Hypoglyc... OMIM:229600
Fanconi Renotubular Syndrome 3
Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-... OMIM:615605
Atelis Syndrome 1
Anemia, Leukopenia, Thrombocytopenia, Attention deficit hyperactivity disorder OMIM:620184
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Salt craving, Ataxia, Hypertension, Hypokalemia, Hyperaldosteronism, Increased circulating renin ... OMIM:612780
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Intestinal malrotation, Abdominal distention, Secretory diarrhea, Cleft palate, Rectovaginal fist... OMIM:270420
Fanconi Renotubular Syndrome 5
Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Aminoaciduria, Glycosuria, Hypopho... OMIM:618913
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Syncope, Ventricular fibrillation OMIM:603829
Lissencephaly, X-Linked, 2
Feeding difficulties in infancy, Diarrhea, High palate, Decreased testicular size OMIM:300215
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Compulsi... ORPHA:534
Congenitally Uncorrected Transposition Of The Great Arteries
Tachycardia, Cyanosis, Cardiac shunt, Congestive heart failure, Left ventricular outflow tract ob... ORPHA:860
Immunodeficiency By Defective Expression Of Mhc Class Ii
Sinusitis, Skin rash, Diarrhea, Acute otitis media, Chronic mucocutaneous candidiasis, Protracted... ORPHA:572
Agammaglobulinemia 1, Autosomal Recessive
Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Rectal abscess, Recurrent ... OMIM:601495
Argininosuccinic Aciduria
Hepatomegaly, Dry hair, Brittle hair, Ataxia, Elevated circulating aspartate aminotransferase con... OMIM:207900
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Eosinophilic infiltration of the esophagus, Perianal abscess, Pancolitis, Bloody diarrhea, Anoper... OMIM:618213
Sandifer Syndrome
Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagitis, Episodic ... ORPHA:71272
Cholestasis, Progressive Familial Intrahepatic, 3
Diarrhea, Bile duct proliferation, Malabsorption OMIM:602347
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia ORPHA:169079
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Ketonuria, Large for gestational age, Hypotonia, Aminoaciduria, Generalized hypotonia, Umbilical ... OMIM:614520
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Elevated hemoglobin A1c, Ataxia, Hy... OMIM:616113
Pyruvate Carboxylase Deficiency
Anorexia, Generalized hypotonia, Compulsive behaviors, Hyperglycemia, Hypoglutaminemia, Hepatomeg... ORPHA:3008
Dent Disease 1
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... OMIM:300009
Familial Renal Glucosuria
Recurrent urinary tract infections, Elevated hemoglobin A1c, Insulin resistance, Abnormal circula... ORPHA:69076
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Eczema, Abdominal pain, Lymphadenitis, Chronic diarrhea, Hematochezia, Inflammation of the large ... OMIM:615895
Glucagonoma
Anorexia, Poor appetite, Lack of bowel sounds, Episodic abdominal pain, Constipation, Nausea and ... ORPHA:97280
Hermansky-Pudlak Syndrome 5
Absent platelet dense granules, Metrorrhagia, Epistaxis, Impaired ADP-induced platelet aggregatio... OMIM:614074
Multiple Endocrine Neoplasia, Type I
Peptic ulcer, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, P... OMIM:131100
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Absent inner dynein arms, Coiled sperm flag... OMIM:620356
Liddle Syndrome 2
Hypertension, Hypokalemia, Decreased circulating renin level OMIM:618114
Liddle Syndrome 3
Hypertension, Hypokalemia, Decreased circulating renin level OMIM:618126
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... OMIM:619041
Immune Thrombocytopenia
Gastrointestinal hemorrhage, Thrombocytopenia, Epistaxis, Cerebral hemorrhage ORPHA:3002
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension,... OMIM:171420
Aregenerative Anemia
Pancytopenia, Abnormal proportion of CD8-positive T cells, Fatigable weakness of skeletal muscles... ORPHA:101096
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, H... ORPHA:90790
Multiple Endocrine Neoplasia, Type Iib
Colonic diverticula, Aganglionic megacolon, Failure to thrive in infancy, High, narrow palate, Di... OMIM:162300
Glutathione Synthetase Deficiency
Increased level of L-pyroglutamic acid in urine, Ataxia, Spastic tetraparesis OMIM:266130
Whipple Disease
Gastrointestinal hemorrhage, Myositis, Pericarditis, Anorexia, Malabsorption, Abdominal pain, Myo... ORPHA:3452
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,... ORPHA:300373
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Inguinal hernia, Brittle hair, Homocystinuria, Kyphoscoliosis, Methioninuria, Hyperhomocystinemia... OMIM:236200
Bone Dysplasia, Lethal Holmgren Type
Nausea and vomiting, Patent ductus arteriosus, Diarrhea, Weight loss, Failure to thrive ORPHA:1842
Cystathioninuria
Cystathioninuria OMIM:219500
Beta-Aminoisobutyric Aciduria
Beta-aminoisobutyric aciduria OMIM:210100
Phosphohydroxylysinuria
Phosphohydroxylysinuria OMIM:615011
Phenylketonuria
Aminoaciduria ORPHA:716
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia OMIM:126320
Renal Cysts And Diabetes Syndrome
Renal cyst, Glucose intolerance, Pancreatic hypoplasia, Atretic vas deferens, Hypospadias, Abnorm... OMIM:137920
Schimke Immunoosseous Dysplasia
Waddling gait, Pancytopenia, Transient ischemic attack, Bilateral cryptorchidism, Thrombocytopeni... OMIM:242900
East Syndrome
Salt craving, Ataxia, Inability to walk, Hypokalemia, Hyperaldosteronism, Increased circulating r... ORPHA:199343
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Hypoplasia of the thy... ORPHA:906
Liddle Syndrome 1
Hypertension, Hypokalemia, Decreased circulating renin level OMIM:177200
Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Hypertriglyceridemia, Small for gestational age, Increased urinary gly... OMIM:307030
Glycogen Storage Disease Ixb
Diarrhea OMIM:261750
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Apparent Mineralocorticoid Excess
Hypertension, Hypokalemia, Abnormality of circulating cortisol level, Polydipsia, Decreased circu... ORPHA:320
Intermediate Osteopetrosis
Thrombocytopenia, Hypocalcemia, Anemia, Hepatosplenomegaly ORPHA:210110
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Tachycardia, Tricuspid regurgitation, Congestive heart failure, Inability to walk, Thrombocytopen... ORPHA:505248
Infection-Related Hemolytic Uremic Syndrome
Pneumonia, Nausea, Abdominal pain, Intestinal perforation, Myocarditis, Diarrhea, Pancreatitis, S... ORPHA:544482
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute myeloid leukemia, Acute monocytic leukemia, Epistaxis, Impaired platelet aggregation, Abnor... OMIM:601399
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Epistaxis, Anemia of inadequate production, Acanthocytosis, Poikilocytosis, Congenital thrombocyt... OMIM:300367
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Skin rash, Failure to thrive in infancy, Abdominal pain, Diarrhea, Chronic diarrhea, Panniculitis OMIM:617099
Aicardi-Goutieres Syndrome 1
Inability to walk, Splenomegaly, Vasculitis, Cardiomyopathy, Acrocyanosis, Self-mutilation, Throm... OMIM:225750
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome
Heart block, Premature ventricular contraction ORPHA:1964
Mercaptolactate-Cysteine Disulfiduria
Aminoaciduria OMIM:249650
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Elevated urinary 3-hydroxybutyric acid, Ketonuria, Hypoglycemia, Abnormal urine sebacic acid conc... OMIM:615751
Bleeding Disorder, Platelet-Type, 17
Gastrointestinal hemorrhage, Increased RBC distribution width, Epistaxis, Macrothrombocytopenia, ... OMIM:187900
Multiple Mitochondrial Dysfunctions Syndrome 3
Severe muscular hypotonia, Spastic tetraplegia, Hypotonia, Hyperglycinemia, Arthrogryposis multip... OMIM:615330
Glutamate Formiminotransferase Deficiency
Aminoaciduria, Elevated urinary formiminoglutamic acid level, Positive ferric chloride test OMIM:229100
Mednik Syndrome
Volvulus, Jejunal atresia, Microcolon, Diarrhea OMIM:609313
Autosomal Dominant Severe Congenital Neutropenia
Recurrent skin infections, Pneumonia, Abdominal pain, Diarrhea, Rhinitis, Periodontitis, Recurren... ORPHA:486
Triokinase And Fmn Cyclase Deficiency Syndrome
Chronic diarrhea, Failure to thrive in infancy, Pancreatitis OMIM:618805
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Methylmalonic acidemia, Hypomethioninemia, Ataxia, Pulmonary embolism, Megaloblastic anemia, Thro... ORPHA:79282
Familial Mediterranean Fever
Acute hepatic failure, Nausea and vomiting, Intestinal obstruction, Pericarditis, Skin rash, Mala... ORPHA:342
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Diarrhea, High palate, Pneumonia OMIM:614069
Acrodermatitis Enteropathica
Anorexia, Malabsorption, Poor appetite, Pustule, Chronic diarrhea, Cheilitis, Furrowed tongue, We... ORPHA:37
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Irritability, ... OMIM:618278
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Decreased hemoglobin concentration, Decreased heart rate variability, Cryptorchidism, Attention d... OMIM:619005
Familial Hemophagocytic Lymphohistiocytosis
Maculopapular exanthema, Skin rash, Colitis, Decreased liver function, Erythroderma, Infectious e... ORPHA:540
Hydroxykynureninuria
Abnormal circulating tryptophan concentration, Tachycardia, Abnormal repetitive mannerisms, Hypot... ORPHA:79155
Primary Fanconi Renotubular Syndrome
Low-molecular-weight proteinuria, Hypouricemia, Hypoglycemia, Increased urinary potassium, Chroni... ORPHA:3337
Familial Hyperaldosteronism Type Ii
Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Intracranial hemorrhage, Hypert... ORPHA:404
Low Phospholipid-Associated Cholelithiasis
Elevated hepatic transaminase, Diabetes mellitus, Liver abscess, Cholangitis, Hypercholesterolemi... ORPHA:69663
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Elevated circulating C-reactive protein concentration, B lymphocytopenia... OMIM:618048
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Diarrhea, Gastritis ORPHA:2575
Angioedema, Hereditary, 1
Diarrhea, Vomiting, Intestinal edema, Abdominal pain OMIM:106100
Syndromic Diarrhea
Villous atrophy, Gastritis, Small for gestational age, Patent ductus arteriosus, Bloody diarrhea,... ORPHA:84064
Alg8-Cdg
Abnormality of the gastrointestinal tract, Small for gestational age, Diarrhea, Feeding difficult... ORPHA:79325
Fumarase Deficiency
Reduced subcutaneous adipose tissue, Bilateral fetal pyelectasis, Increased urine succinate level... OMIM:606812
Cholestasis, Progressive Familial Intrahepatic, 6
Failure to thrive, Chronic diarrhea OMIM:619484
Idiopathic Aplastic Anemia
Pancytopenia, Epistaxis, Thrombocytopenia, Retinal hemorrhage, Reticulocytopenia, Neutropenia, An... ORPHA:88
Histidinuria-Renal Tubular Defect Syndrome
Impaired histidine renal tubular absorption, Histidinuria, Hypoglycemia ORPHA:2158
Encephalopathy, Ethylmalonic
Failure to thrive, Chronic diarrhea, Feeding difficulties OMIM:602473
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis OMIM:269600
Immunodeficiency 31C
Villous atrophy, Osteomyelitis, Eczema, Diarrhea, Bronchiectasis, Chronic mucocutaneous candidias... OMIM:614162
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Female infertility, Goiter OMIM:617577
Mevalonic Aciduria
Normocytic hypoplastic anemia, Ataxia, Elevated circulating creatine kinase concentration, Elevat... OMIM:610377
Congenital Sialidosis Type 2
Abnormal EKG, Ataxia, Dysmetria, Hepatosplenomegaly, Telangiectasia ORPHA:93400
Interstitial Lung And Liver Disease
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H... OMIM:615486
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Pulmonary Non-Tuberculous Mycobacterial Infection
Diarrhea, Bronchiectasis, Weight loss ORPHA:411703
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Hypospadias, Hypoglycemia, Renal salt wasting, Adrenogenital syndrome OMIM:201910
Iga Pemphigus
Pustule, Neutrophilic infiltration of the skin, Ulcerative colitis, Cutaneous abscess ORPHA:555905
T-Cell Immunodeficiency With Thymic Aplasia
Failure to thrive, Sinusitis, Aplasia of the thymus, Pneumonia, Malabsorption, Diarrhea, Atypical... ORPHA:83471
Stiff-Person Syndrome
Hypertension, Tachycardia, Anemia, Depression OMIM:184850
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Elevated hepatic transaminase, Elevated circulating dodecanoylcarnitine concentration, Increased ... OMIM:619355
Neuropathy, Hereditary Sensory And Autonomic, Type V
Osteomyelitis, Osteoarthritis, Diarrhea, Constipation, Septic arthritis OMIM:608654
Amed Syndrome, Digenic
Acute myeloid leukemia, Thrombocytopenia, Leukopenia, Attention deficit hyperactivity disorder, A... OMIM:619151
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Unsteady gait, Gait ataxia, Normochromic anemia, Hypoalbuminemia, Dysphagia, Mental deterioration... OMIM:254900
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Abnormality of thyroid physiology, Abnormal blood ion concentration, Abnormal ... ORPHA:411629
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Abdominal pain, Diarrhea, Malnutrition, Vomiting, Erythroderma ORPHA:79456
Deafness-Lymphedema-Leukemia Syndrome
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Intracranial hemorrhage, M... ORPHA:3226
Pearson Syndrome
Reticulocytosis, Pancytopenia, Ataxia, Cardiac conduction abnormality, Thrombocytopenia, Splenome... ORPHA:699
Ectopic Aldosterone-Producing Tumor
Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Hypertension, Hypokalemia, Decr... ORPHA:231632
Bone Marrow Failure Syndrome 2
Leukopenia, Thrombocytopenia, Anemia OMIM:615715
Systemic Capillary Leak Syndrome
Pericarditis, Abdominal pain, Myocarditis, Diarrhea, Weight loss, Pancreatitis ORPHA:188
Methylmalonic Aciduria, Cblb Type
Methylmalonic acidemia, Pancytopenia, Thrombocytopenia, Hyperammonemia, Hyperglycinemia, Neutrope... OMIM:251110
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Tachycardia, Syncope, Premature ventricular contraction OMIM:192445
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Abdominal pain, Rectal prolapse, Multiple gastric polyps, Bloody diarrh... OMIM:175200
3-Methylglutaconic Aciduria, Type Viii
Neutropenia, Bradycardia, Dysphagia OMIM:617248
Thyrocerebrorenal Syndrome
Thrombocytopenia, Nonprogressive cerebellar ataxia ORPHA:3327
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Hypertriglyceridemia, Ataxia, Increased circulating ferritin concentration, Thrombo... ORPHA:158048
Familial Mediterranean Fever
Pericarditis, Abdominal pain, Orchitis, Diarrhea, Peritonitis, Episodic abdominal pain, Chronic c... OMIM:249100
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hydrocele testis, Anemia, Neutropenia, Congenital thrombocytopenia, Thrombocytopenia OMIM:616738
Fetal Gaucher Disease
Pancytopenia, Abnormality of the spleen, Splenomegaly, Intracranial hemorrhage, Thrombocytopenia ORPHA:85212
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Methylmalonic acidemia, Hepatomegaly, Small for gestational age, Cystathioninuria, Hypotonia, Met... OMIM:277380
Martinez-Frias Syndrome
Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Tr... OMIM:601346
Hereditary Angioedema Type 1
Intestinal edema, Abdominal pain, Abnormal soft palate morphology, Diarrhea, Vomiting, Dysphagia,... ORPHA:100050
Mitochondrial Complex I Deficiency, Nuclear Type 20
Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Thrombocytopenia OMIM:611126
Lipodystrophy, Familial Partial, Type 7
Lack of facial subcutaneous fat, Dysmetria, Gait ataxia, Glucose intolerance, Sparse hair, Decrea... OMIM:606721
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Dyspareunia, Sudden cardiac death, Myocardial infarction, Abnormalit... ORPHA:36426
Transcobalamin Deficiency
Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia ORPHA:859
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypoglycemic seizures, Nephrocalcinosis, Hepatic steatosis, Hypothyroidism, Tubulointerstitial fi... ORPHA:79259
Portal Hypertension, Noncirrhotic, 2
Splenomegaly, Thrombocytopenia, Epistaxis, Portal hypertension OMIM:619463
Griscelli Syndrome
Ataxia, Abnormality of neutrophils, Splenomegaly, Leukopenia, Abnormal circulating lipid concentr... ORPHA:381
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Elevated hepatic transaminase, Hypertyrosinemia, Failure to thrive, Hypoglycemia, 4-hydroxyphenyl... OMIM:617156
Ivic Syndrome
Leukocytosis, Arrhythmia, Thrombocytopenia ORPHA:2307
Immunodeficiency 87 And Autoimmunity
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Hypertriglyceridemia... OMIM:619573
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Hereditary Methemoglobinemia
Athetosis, Cyanosis, Methemoglobinemia ORPHA:621
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Microvesicular hepatic steatosis, Hypotriglyceridemia, Hepatomegaly, Micronodular cirrhosis, Corn... ORPHA:404454
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Myositis, Intestinal obstruction, Fasciitis, Pericarditis, Skin rash, Abdominal pain, Orchitis, D... ORPHA:32960
Aicardi-Goutieres Syndrome 5
Irritability, Thrombocytopenia OMIM:612952
Alternating Hemiplegia Of Childhood
Ataxia, Cardiac conduction abnormality, Progressive neurologic deterioration, Anorexia, Oral-phar... ORPHA:2131
Tangier Disease
Hypertriglyceridemia, Hepatosplenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia ORPHA:31150
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Aminoaciduria OMIM:204730
Osteootohepatoenteric Syndrome
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Abdominal pain, Se... OMIM:619377
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Mitral regurgitation, Increased mean corpuscular volume, Macrocytic ... OMIM:612561
Immunodeficiency 92
Osteomyelitis, Pneumonia, Cholangitis, Chronic diarrhea, Sclerosing cholangitis, Esophagitis OMIM:619652
Liver Disease, Severe Congenital
Dry hair, Biliary hyperplasia, Aminoaciduria, Hypocalcemia, Elevated hepatic iron concentration, ... OMIM:619991
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Congenital Myopathy 20
Failure to thrive, Chronic diarrhea, High palate OMIM:620310
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Increased urinary glycerol, Hypoglycemia, Hypotonia, Lethargy OMIM:229700
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Malabsorption, Iridocyclitis, D... OMIM:240300
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Tsh-Secreting Pituitary Adenoma
Decreased female libido, Hypogonadotropic hypogonadism, Female hypogonadism, Supraventricular arr... ORPHA:91347
Severe Generalized Junctional Epidermolysis Bullosa
Anemia, Dilated cardiomyopathy, Bradycardia, Abnormal blood ion concentration ORPHA:79404
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Cholangitis, Eczema, Malabsorption, Feeding difficulties in... ORPHA:3260
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Enamel hypomineralization, Bicarbonaturia, Bicarbonate-wasting renal tubular a... ORPHA:47159
Lig4 Syndrome
Pancytopenia, Cryptorchidism, Telangiectasia, Acute lymphoblastic leukemia, Thrombocytopenia, Ame... OMIM:606593
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Diarrhea, Failure to thrive, Vomiting OMIM:560000
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy, Progressive cerebellar ataxia ORPHA:276183
Seckel Syndrome 10
Acute pancreatitis, Diabetes mellitus, Hypertriglyceridemia, Elevated circulating aspartate amino... OMIM:617253
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia OMIM:598500
Thymoma
Myositis, Glomerulonephritis, Ulcerative colitis, Weight loss, Rheumatoid arthritis, Neoplasm of ... ORPHA:99867
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Sparse hair, Aminoaciduria, Hypogonadism, Hypoplastic nipples OMIM:273400
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Hypoglycemia,... OMIM:619418
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Isolated Complex I Deficiency
Increased serum pyruvate, Hepatomegaly, Diabetes mellitus, Ataxia, Hypoglycemia, Hypotonia, Proxi... ORPHA:2609
Boutonneuse Fever
Skin rash, Maculopapular exanthema, Abdominal pain, Diarrhea, Nausea ORPHA:83313
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Villous atrophy, Inflammatory abnormality of the skin, Eczema, Diarrhea, Esophageal carcinoma, En... ORPHA:391487
Alström Syndrome
Thoracic scoliosis, Decreased response to growth hormone stimulation test, Urinary incontinence, ... ORPHA:64
Aicardi-Goutieres Syndrome 4
Splenomegaly, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly OMIM:610333
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Hepatocellular carcinoma, Microvesicular hepatic steatosis, Hepatocellular... OMIM:256810
Combined Oxidative Phosphorylation Deficiency 55
Elevated circulating creatine kinase concentration, Hypomagnesemia, Thrombocytopenia, Hypophospha... OMIM:619743
Carcinoid Syndrome
Nausea and vomiting, Lack of bowel sounds, Hepatic necrosis, Protracted diarrhea, Episodic abdomi... ORPHA:100093
Immunodeficiency 22
Pericarditis, Diarrhea, Protracted diarrhea, Panniculitis, Chronic oral candidiasis, Failure to t... OMIM:615758
Immunodeficiency, Common Variable, 14
Chronic diarrhea, Psoriasiform dermatitis, Recurrent sinusitis OMIM:617765
Immunodeficiency 9
Chronic diarrhea, Hypoplasia of the thymus, Recurrent aphthous stomatitis, Stomatitis, Failure to... OMIM:612782
Renal Nutcracker Syndrome
Dyspareunia, Orthostatic hypotension, Tachycardia, Dysmenorrhea, Syncope, Infertility, Anemia ORPHA:71273
Glycogen Storage Disease Ia
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Hypoglycemia, Hyperlipidemia, Delayed p... OMIM:232200
Argininemia
Progressive spastic quadriplegia, Diaminoaciduria, Hyperammonemia ORPHA:90
T-Cell Immunodeficiency With Thymic Aplasia
Failure to thrive, Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, Pyoderma, Eczematoid de... OMIM:242700
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Ataxia, Abnormal den... OMIM:214500
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Acute hepatic failure, Elevated hepatic transaminase, Ketonuria, Hypoglycemia, Hyperammonemia, Hy... OMIM:615453
Carnitine Deficiency, Systemic Primary
Diarrhea, Failure to thrive, Vomiting OMIM:212140
Dermotrichic Syndrome
Aminoaciduria, Abnormal vertebral morphology, Nail dystrophy ORPHA:99688
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Ataxia, Megaloblastic anemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:613839
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Weight loss, Diarrhea, Abnormal testis morphology, Abdominal pain ORPHA:54251
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Tachycardia, Pancytopenia, Ataxia, Aggressive behavior, Dilated cardiomyopathy, Gait ataxia, Irri... OMIM:618321
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Feeding difficulties in infancy, Diarrhea, Elevated circulating creatinine concentration, Gastroe... OMIM:223900
Wars2-Related Combined Oxidative Phosphorylation Defect
Ataxia, Aggressive behavior, Dysmetria, Cardiomyopathy, Athetosis, Difficulty walking, Dysphagia,... ORPHA:572798
Argininemia
Hepatomegaly, Hyperactivity, Anorexia, Micronodular cirrhosis, Cholestasis, Hyperammonemia, Progr... OMIM:207800
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Portal hypertension, Cryptorchidism, Thrombocytopenia, Lymphopenia, Anemia OMIM:620365
Cold Agglutinin Disease
Nausea and vomiting, Diarrhea ORPHA:56425
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Elevated hepatic transaminase, Hepatomegaly, Methylmalonic acidemia, Dystonia, Hypospadias, Hypog... ORPHA:17
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Pancytopenia, Anemia, Thrombocytopenia OMIM:616435
Specific Granule Deficiency 2
Absent neutrophil specific granules, Thrombocytopenia, Anemia, Neutropenia OMIM:617475
Hyperthyroidism, Nonautoimmune
Hyperactivity, Tachycardia, Increased circulating thyroglobulin level OMIM:609152
Castleman Disease
Elevated circulating C-reactive protein concentration, Thrombocytopenia, Decreased mean corpuscul... ORPHA:160
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia OMIM:177820
Hypocalcemic Vitamin D-Dependent Rickets
Generalized aminoaciduria, Elevated circulating parathyroid hormone level, Hypocalcemia, Secondar... ORPHA:289157
16Q24.3 Microdeletion Syndrome
Cryptorchidism, Dilated cardiomyopathy, Mitral regurgitation, Increased mean corpuscular volume, ... ORPHA:261250
Methanol Poisoning
Diarrhea, Vomiting, Abdominal pain ORPHA:31825
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Methylmalonic acidemia, Elevated urinary 3-hydroxybutyric acid, Hypotonia, Methylmalonic aciduria... OMIM:614105
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Leptospirosis
Pericarditis, First degree atrioventricular block, Anorexia, Retinal hemorrhage, Subconjunctival ... ORPHA:509
Immunodeficiency, Common Variable, 7
Chronic diarrhea OMIM:614699
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Pediatric Systemic Lupus Erythematosus
Abnormality of the gastrointestinal tract, Myositis, Skin rash, Abdominal pain, Discoid lupus ras... ORPHA:93552
Bleeding Disorder, Platelet-Type, 21
Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Menorrhagia, Impaired ... OMIM:617443
Keppen-Lubinsky Syndrome
Lack of facial subcutaneous fat, Decreased serum leptin, Spastic tetraparesis, Absence of subcuta... OMIM:614098
Ileal Neuroendocrine Tumor
Intestinal fistula, Functional intestinal obstruction, Gastrointestinal obstruction, Episodic abd... ORPHA:100078
Spermatogenic Failure 14
Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti... OMIM:615842
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Proteinuria, Hemolytic-uremic syn... OMIM:277400
Plague
Chapped lip, Skin rash, Anorexia, Abdominal pain, Hematemesis, Lymphadenitis, Diarrhea, Erythema ... ORPHA:707
Lassa Fever
Nausea and vomiting, Abdominal pain, Diarrhea, Conjunctivitis, Dysphagia ORPHA:99824
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia ORPHA:494444
B4Galt1-Cdg
Inflammatory abnormality of the skin, Small for gestational age, Diarrhea ORPHA:79332
Hyperlysinemia
Failure to thrive, Neck hypertonia, Hyperactivity, Spastic tetraparesis, Argininuria, Spastic dip... ORPHA:2203
Marbach-Rustad Progeroid Syndrome
Right bundle branch block, Pulmonary insufficiency OMIM:619322
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Pneumonia, Enteroviral hepatitis, Prostatitis, Epididymitis, Diarrhea, Pyoderma, Conju... OMIM:307200
Felty Syndrome
Pericarditis, Splenomegaly, Anemia, Neutropenia, Abnormal lymphocyte morphology, Thrombocytopenia ORPHA:47612
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hypertension, Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating al... OMIM:613095
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Anorexia, Lymphadenitis, Vomiting, Nephritis, Infectious enceph... ORPHA:2552
3-Methylglutaconic Aciduria, Type Viib
Ataxia, Congestive heart failure, Choreoathetosis, Leukopenia, Neutropenia, Thrombocytopenia OMIM:616271
Methylmalonic Aciduria, Cbla Type
Methylmalonic acidemia, Pancytopenia, Thrombocytopenia, Hyperammonemia, Hyperglycinemia, Neutrope... OMIM:251100
Serotonin Syndrome
Restlessness, Tachycardia, Confusion, Hypertension, Irritability, Agitation, Hypotension, Mental ... ORPHA:43116
Malakoplakia
Inflammatory abnormality of the skin, Skin rash, Abdominal pain, Orchitis, Urinary bladder inflam... ORPHA:556
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... OMIM:619949
Cystic Fibrosis
Meconium ileus, Rectal prolapse, Ileus, Recurrent pneumonia, Bronchiectasis, Diarrhea, Steatorrhe... OMIM:219700
African Trypanosomiasis
Abnormal EKG, Pericarditis, Akinesia, Abnormality of the menstrual cycle, Aggressive behavior, My... ORPHA:3385
Gaucher Disease Type 1
Pancytopenia, Anorexia, Hypersplenism, Thrombocytopenia, Splenomegaly, Leukopenia, Pulmonary arte... ORPHA:77259
Combined Oxidative Phosphorylation Deficiency 39
Sinus bradycardia OMIM:618397
Autoimmune Hemolytic Anemia, Warm Type
Tachycardia, Autoimmune hemolytic anemia, Splenomegaly, Congestive heart failure, Chronic lymphat... ORPHA:90033
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Noncompaction cardiomyopathy, Tricuspid regurgitation, Congestive heart failure, Thrombocytopenia... ORPHA:508542
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Broad-based gait, Limb ataxia, Persistence of hemoglobin F, Self-injurious behavior, Truncal atax... OMIM:617101
Transaldolase Deficiency
Pancytopenia, Splenomegaly, Hepatosplenomegaly, Anemia, Telangiectasia, Thrombocytopenia OMIM:606003
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating creatine kinase concentration, Heart block, Elevated circulating acylcarniti... ORPHA:228308
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Retin... ORPHA:464321
Hypocomplementemic Urticarial Vasculitis
Nausea and vomiting, Episcleritis, Skin rash, Abdominal pain, Diarrhea, Uveitis, Arthritis, Conju... ORPHA:36412
Holocarboxylase Synthetase Deficiency
Lethargy, Thrombocytopenia, Irritability, Hyperammonemia OMIM:253270
Acute Liver Failure
Shock, Gastrointestinal hemorrhage, Ataxia, Confusion, Hyperammonemia, Depression, Intracranial h... ORPHA:90062
Legionnaires Disease
Nausea and vomiting, Pericarditis, Anorexia, Abdominal pain, Myocarditis, Diarrhea, Hepatitis, En... ORPHA:549
Bloom Syndrome
Male infertility, Recurrent urinary tract infections, Diabetes mellitus, Premature ovarian insuff... ORPHA:125
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To
Increased level of L-pyroglutamic acid in urine OMIM:231900
Paroxysmal Cold Hemoglobinuria
Nausea and vomiting, Diarrhea ORPHA:90035
Kindler Epidermolysis Bullosa
Recurrent skin infections, Esophageal stricture, Cheilitis, Inflammation of the large intestine, ... ORPHA:2908
Paget Disease Of Bone 5, Juvenile-Onset
Increased urine deoxypyridinoline level, Macular scar, Kyphosis, Hydroxyprolinemia, Hypotonia, Hy... OMIM:239000
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,... OMIM:603554
Lysinuric Protein Intolerance
Hypolysinemia, Increased circulating ferritin concentration, Thrombocytopenia, Splenomegaly, Intr... OMIM:222700
Combined Immunodeficiency-Enteropathy Spectrum
Psoriasiform dermatitis, Intestinal malrotation, Jejunoileal ulceration, Abdominal distention, Ga... ORPHA:436252
Congenital Erythropoietic Porphyria
Hemolytic anemia, Reticulocytosis, Anisocytosis, Abnormal circulating porphyrin concentration, Sp... ORPHA:79277
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Hypoglycemia, Kyphoscoliosis, Hypotonia, Nephrocalcinosis, Joint contracture, Failure to thrive, ... OMIM:618005
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Ataxia, Thrombocytopenia, Leukopenia, Increased mean corpuscular volume, Budd-Ch... OMIM:127550
Bohring-Opitz Syndrome
Inability to walk, Bradycardia ORPHA:97297
Cystathioninuria
Cystathioninemia, Cystathioninuria, Nephrolithiasis ORPHA:212
Turcot Syndrome With Polyposis
Intestinal polyposis, Abdominal pain, Pituitary adenoma, Adenomatous colonic polyposis, Diarrhea,... ORPHA:99818
Prolidase Deficiency
Splenomegaly, Thrombocytopenia, Diffuse telangiectasia, Anemia OMIM:170100
Congenital Aortic Valve Stenosis
Angina pectoris, Sudden cardiac death, Increased QRS voltage, Heart murmur, Abnormal left ventric... ORPHA:3093
Glutathionuria
Dysdiadochokinesis, Urinary incontinence, Glutathionuria OMIM:231950
Shwachman-Diamond Syndrome 2
Diarrhea, Steatorrhea, High palate, Hyperechogenic pancreas, Failure to thrive, Exocrine pancreat... OMIM:617941
Cholestasis, Progressive Familial Intrahepatic, 5
Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, E... OMIM:617049
Middle Ear Neuroendocrine Tumor
Chronic diarrhea ORPHA:100084
Bone Marrow Failure Syndrome 4
Leukopenia, Thrombocytopenia, Anemia OMIM:618116
Woodhouse-Sakati Syndrome
Premature ovarian insufficiency, Hypogonadotropic hypogonadism, Hypergonadotropic hypogonadism, H... OMIM:241080
Dextrocardia
Abnormal EKG, Abnormality of the spleen, T-wave inversion ORPHA:1666
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Cyanosis, Aggressive behavior, Hyperlipidemia, Hyperkalemia, Depression, Self-injur... ORPHA:293987
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Inability to walk, Splenomegaly, Hypertension, Hypokalemia, Hypocalcemi... OMIM:617913
Acute Radiation Syndrome
Telangiectasia, Granulocytopenia, Hypotension, Lymphopenia, Thrombocytopenia ORPHA:454831
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Small for gestational age, Diarrhea, Weight loss, Thyroid hyperplasia, Goiter ORPHA:424
Aortic Arch Interruption
Aortic regurgitation, Shock, Tricuspid regurgitation, Cyanosis, Blood pressure substantially high... ORPHA:2299
Nestor-Guillermo Progeria Syndrome
Sparse scalp hair, Alopecia, Lipoatrophy, Sparse eyelashes, Decreased serum leptin, Sparse eyebro... OMIM:614008
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Tricuspid regurgitation, Decreased circulating copper concen... OMIM:300972
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Highly arched eyebrow, Sparse pubic hair, In... OMIM:110100
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Anorexia, Thrombocytopenia, Neutropenia, Reticulocytopenia, H... OMIM:557000
Osteopetrosis, Autosomal Recessive 1
Pancytopenia, Splenomegaly, Anemia, Hypocalcemia, Thrombocytopenia OMIM:259700
Agammaglobulinemia 8B, Autosomal Recessive
Failure to thrive, Chronic diarrhea, Recurrent pneumonia OMIM:619824
Thyrocerebroretinal Syndrome
Ataxia, Thrombocytopenia OMIM:274240
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Proteinuria, Hypoglycemia, Hepa... OMIM:232220
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Pancytopenia, Hematemesis, Increased circulating ferritin concentration, Thromb... OMIM:615846
Duodenal Atresia
Duodenal atresia OMIM:223400
Primary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Abdominal pain, Chronic diarrhea, Functional ab... ORPHA:90362
Steinert Myotonic Dystrophy
Prolonged QRS complex, Oral-pharyngeal dysphagia, Supraventricular tachycardia, Male hypogonadism... ORPHA:273
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Sudden cardiac death, Thrombocytopenia, Dysphagia, Neutropenia, Poly... ORPHA:537
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
Tyrosinemia, Type I
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Hypertyros... OMIM:276700
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Irregular menstruation, Testicular adrenal rest tumor, Intr... ORPHA:90795
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Bronchiectasis, Inflammation of the large intestine, Rectovaginal fistula, Dysphagia, Absent uvul... OMIM:619708
Infantile Systemic Hyalinosis
Abnormality of the gastrointestinal tract, Malabsorption, Chronic diarrhea, Polycystic ovaries, F... ORPHA:2176
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Parathyroid agenesis, Hypercalciuria, Hyperphosphatemia, Hypocalcemia, Hypomagn... ORPHA:2239
Acute Intermittent Porphyria
Hyponatremia, Restlessness, Tachycardia, Confusion, Depression, Hypertension, Pseudobulbar paraly... ORPHA:79276
Houge-Janssens Syndrome 1
Pyloric stenosis, Chronic diarrhea OMIM:616355
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Primary Ciliary Dyskinesia
Male infertility, Female infertility, Asplenia, Polysplenia, Abnormal sperm motility ORPHA:244
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pancytopenia, Abnormal lymphocyte count, Portal hypertension, Thrombocytopenia, Decreased proport... ORPHA:79124
Orotic Aciduria
Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemi... OMIM:258900
Tick-Borne Encephalitis
Elevated circulating C-reactive protein concentration, Anorexia, Leukocytosis, Depression, Leukop... ORPHA:297
Dpm1-Cdg
High, narrow palate, Diarrhea, Failure to thrive, Gastrostomy tube feeding in infancy ORPHA:79322
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Inability to walk, Thrombocytopenia OMIM:616577
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Unilateral cry... OMIM:300946
Absence Of The Pulmonary Artery
Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Cyanosis, Congestive heart failur... ORPHA:980
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Right bundle branch block OMIM:618590
Rajab Interstitial Lung Disease With Brain Calcifications 1
Small scrotum, Hypoalbuminemia, Hypocalcemia, Generalized hypotonia, Hepatic steatosis, Portal hy... OMIM:613658
Congenital Rubella Syndrome
Splenomegaly, Thrombocytopenia, Anemia ORPHA:290
Neonatal Inflammatory Skin And Bowel Disease
Chapped lip, Recurrent bacterial skin infections, Psoriasiform dermatitis, Anal fissure, Pustule,... ORPHA:294023
Osteopetrosis, Autosomal Recessive 5
Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenomegaly, Hypochr... OMIM:259720
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Intestinal obstruction, Pneumonia, Chronic diarrhea, Recurrent otitis media, Failure to thrive OMIM:600802
Hereditary Fructose Intolerance
Abdominal pain, Abdominal distention, Diarrhea, Constipation, Vomiting, Chronic hepatic failure, ... ORPHA:469
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent bacterial skin infections, Skin rash, Pneumonia, Diarrhea, Recurrent cutaneous fungal i... ORPHA:276
Leopard Syndrome 1
Bundle branch block, Delayed menarche, Cryptorchidism, Hypoplasia of the ovary, Third degree atri... OMIM:151100
Kaposiform Lymphangiomatosis
Epidural hemorrhage, Metrorrhagia, Epistaxis, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly,... ORPHA:464329
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Hypokalemia, Increased serum prostaglandin E2, Increased circulating renin level, Abnormal magnes... OMIM:241150
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Inability to walk, Self-injurious behavior, High nonceruloplasmin-bound serum copper, Abnormal re... ORPHA:457351
Ovarian Dysgenesis 3
Elevated circulating luteinizing hormone level, Female infertility, Primary amenorrhea, Elevated ... OMIM:614324
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia OMIM:601198
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Intractable diarrhea, Esophageal atresia, Congenital pyloric atresia OMIM:226730
Noonan Syndrome 4
Thrombocytopenia, Cryptorchidism, Hypertrophic cardiomyopathy, Pulmonic stenosis OMIM:610733
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Increased circulating ferritin concentration, Hypochromic microcytic anemia, Thrombocytopenia ORPHA:3240
Kikuchi-Fujimoto Disease
Ataxia, Elevated circulating C-reactive protein concentration, Anorexia, Myocarditis, Thrombocyto... ORPHA:50918
Juvenile Polyposis Syndrome
Gastrointestinal hemorrhage, Small intestinal polyposis, Juvenile gastrointestinal polyposis, Neo... ORPHA:2929
Familial Dysautonomia
Hyponatremia, Orthostatic hypotension, Tachycardia, Ataxia, Hypertension, Gait disturbance, Acroc... ORPHA:1764
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Intermittent thrombocytopenia, Cryptorchidism, Erythroid hypoplasia, Thrombocytopenia, Splenomega... OMIM:612541
Neuroblastoma, Susceptibility To, 1
Weight loss, Diarrhea, Failure to thrive, Abdominal pain OMIM:256700
Double Outlet Right Ventricle
Tachycardia, Cyanosis, Heart murmur, Hypocalcemia, Pulmonic stenosis ORPHA:3426
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Cryptorchidism, Thrombocytopenia, Heart murmur, Intracranial hemorrhage, Hypocalcemia, Hyperbilir... ORPHA:163979
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Villous atrophy, Psoriasiform dermatitis, Failure to thrive in infancy, Eczema, Chronic diarrhea,... OMIM:606367
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Acne, Secretory diarrhea, Seborrheic dermatitis OMIM:614441
Atelis Syndrome 2
Thrombocytopenia, Dysmetria, Supravalvar pulmonary stenosis, Vitreous hemorrhage, Attention defic... OMIM:620185
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopenia, Dysphag... ORPHA:100026
Pheochromocytoma
Tachycardia, Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension,... OMIM:171300
Immunodeficiency 59 And Hypoglycemia
Recurrent skin infections, Malabsorption, Chronic diarrhea, Herpes simplex encephalitis, High pal... OMIM:233600
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Shwachman-Diamond Syndrome
Normocytic anemia, Short attention span, Macrocytic anemia, Transient neutropenia, Aplastic anemi... ORPHA:811
Vipoma
Neoplasm of the pancreas, Nausea and vomiting, Elevated circulating growth hormone concentration,... ORPHA:97282
Sweet Syndrome
Predominantly dermal neutrophilic infiltrate, Myositis, Acne, Pustule, Oligoarthritis, Inflammati... ORPHA:3243
Argininosuccinic Aciduria
Abnormal hair quantity, Ataxia, Trichorrhexis nodosa, Hyperglutaminemia, Hyperammonemia, Aminoaci... ORPHA:23
Pelger-Huet Anomaly
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... OMIM:169400
Mitochondrial Dna Depletion Syndrome 11
Chronic diarrhea, Nausea OMIM:615084
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Abnormality of the gastrointestinal tract, Nausea and vomiting, Intestinal malrotation, Hypoperis... ORPHA:2241
Congenital Factor Xiii Deficiency
Inflammation of the large intestine, Hepatic failure ORPHA:331
Brucellosis
Pericarditis, Transient ischemic attack, Elevated circulating C-reactive protein concentration, A... ORPHA:1304
Distal Renal Tubular Acidosis
Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,... ORPHA:18
Primary Hepatic Neuroendocrine Carcinoma
Anorexia, Abdominal distention, Diarrhea, Episodic abdominal pain, Weight loss, Neoplasm of the l... ORPHA:100085
Molybdenum Cofactor Deficiency, Complementation Group A
Hypouricemia, Xanthine nephrolithiasis, Spastic tetraparesis, Increased urinary sulfite level, Ab... OMIM:252150
Hellp Syndrome
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Cerebral hemorrhage, Micro... ORPHA:244242
Combined Oxidative Phosphorylation Deficiency 14
Hypotonia, Copper accumulation in liver, Aminoaciduria, Elevated hepatic iron concentration, Incr... OMIM:614946
Familial Gestational Hyperthyroidism
Goiter, Diarrhea, Weight loss, Thyroid hyperplasia ORPHA:99819
Primary Sclerosing Cholangitis
Acute hepatic failure, Cholangiocarcinoma, Abnormal large intestine physiology, Hepatocellular ca... ORPHA:171
Biotinidase Deficiency
Recurrent skin infections, Skin rash, Seborrheic dermatitis, Feeding difficulties in infancy, Dia... OMIM:253260
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Hypokalemia, Hyperamylasemia OMIM:604278
19P13.13 Microdeletion Syndrome
Abdominal pain, Diarrhea, Functional abnormality of the gastrointestinal tract, Feeding difficult... ORPHA:357001
Carney Triad
Gastrointestinal hemorrhage, Tachycardia, Anorexia, Hypertension, Arrhythmia, Anemia ORPHA:139411
Cholestasis, Progressive Familial Intrahepatic, 9
Diarrhea OMIM:619849
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Microcolon, Intestinal malrotation, Hepatic failure OMIM:619431
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Thrombocytopenia, Anemia OMIM:615085
Selective Igm Deficiency
Fasciitis, Lymphadenitis, Recurrent cutaneous fungal infections, Otitis media, Stomach cancer, Re... ORPHA:331235
Intellectual Developmental Disorder, Autosomal Dominant 57
Diarrhea, Feeding difficulties, Constipation, High palate, Otitis media, Intermittent diarrhea, F... OMIM:618050
Stt3B-Cdg
Cryptorchidism, Thrombocytopenia ORPHA:370924
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Aplastic anemia, Dilated cardiomyopathy, Leukopenia, Neutropenia, Thrombocytopenia OMIM:613989
Thrombocytopenia 6
Spontaneous, recurrent epistaxis, Thrombocytopenia OMIM:616937
Leukocyte Adhesion Deficiency, Type I
Osteomyelitis, Chronic diarrhea, Chronic mucocutaneous candidiasis, Rectal abscess, Periodontitis OMIM:116920
Congenital Disorder Of Glycosylation, Type Ix
Cryptorchidism, Thrombocytopenia OMIM:615597
Diarrhea 1, Secretory Chloride, Congenital
Abdominal distention, Failure to thrive, Secretory diarrhea, Elevated stool chloride content OMIM:214700
Hypokalemic Periodic Paralysis, Type 2
Hypokalemia OMIM:613345
Immunodeficiency With Hyper-Igm, Type 1
Failure to thrive, Diarrhea, Hepatitis, Chronic hepatitis, Sclerosing cholangitis, Chronic oral c... OMIM:308230
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia OMIM:314000
Hyper-Igd Syndrome
Skin rash, Abdominal pain, Lymphadenitis, Diarrhea, Chronic diarrhea, Arthritis, Vomiting, Chroni... OMIM:260920
Ogden Syndrome
Polycythemia, Cryptorchidism, Abnormal repetitive mannerisms, Ventricular tachycardia, Dysphagia,... OMIM:300855
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Hemiverte... OMIM:201750
Osteopetrosis, Autosomal Recessive 4
Splenomegaly, Reticulocytosis, Anemia, Thrombocytopenia OMIM:611490
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Axial hypotonia, Ataxia, Brittle hair, Splenomegaly, Hypotonia, Nephrocalcinosis, Aminoaciduria, ... OMIM:616084
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Granulomatous cholangitis, Ulcerative colitis, Sclerosing cholangitis, Inflammation of the large ... ORPHA:562639
Tufted Angioma
Anemia, Thrombocytopenia ORPHA:1063
Diamond-Blackfan Anemia 21
Aortic regurgitation, Erythroid hypoplasia, Thrombocytopenia, Anemia OMIM:620072
Wiskott-Aldrich Syndrome
Eczema, Hematemesis, Diarrhea, Chronic diarrhea, Recurrent pneumonia, Ulcerative colitis, Melena,... OMIM:301000
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Diarrhea, Failure to thrive, Decreased testicular size, Poor appetite OMIM:201100
Bartter Syndrome, Type 3
Hyperchloriduria, Hypokalemia, Hyperaldosteronism, Increased circulating renin level, Hypotension OMIM:607364
Deeah Syndrome
Decreased hemoglobin concentration, Decreased heart rate variability, Cryptorchidism, Dysphagia, ... OMIM:619004
Q Fever
Pericarditis, Anorexia, Myocarditis, Thrombocytopenia, Vasculitis, Splenomegaly, Hepatosplenomega... ORPHA:781
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Ataxia, Retinal telangiectasia, Thrombocytopenia, Intestinal bleeding, Mental deterioration, Gast... OMIM:612199
Young-Onset Parkinson Disease
Diarrhea, Constipation, Nausea, Gastroparesis ORPHA:2828
Mucopolysaccharidosis, Type Iiic
Diarrhea, Dysphagia OMIM:252930
Proteasome-Associated Autoinflammatory Syndrome 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating C-reactive pr... OMIM:256040
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Hypokalemia, Self-biting, Hypomagnesemia OMIM:618314
Takenouchi-Kosaki Syndrome
Ataxia, Increased mean platelet volume, Cryptorchidism, Pulmonic stenosis, Thrombocytopenia OMIM:616737
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Hyperactivity, Pancytopenia, Aplastic anemia, Cryptorchidism, Thrombocyto... OMIM:617052
Fanconi Anemia, Complementation Group A
Male infertility, Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Thrombocytopenia,... OMIM:227650
Gaucher Disease Type 3
Pancytopenia, Ataxia, Thrombocytopenia, Splenomegaly, Dementia, Gait disturbance, Pulmonary arter... ORPHA:77261
Pancreatic And Cerebellar Agenesis
Reduced subcutaneous adipose tissue, Failure to thrive, Diabetes mellitus, Hypoglycemia, Flexion ... OMIM:609069
Cerebral Creatine Deficiency Syndrome 3
Failure to thrive, Organic aciduria OMIM:612718
Chronic Visceral Acid Sphingomyelinase Deficiency
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Autoimmune thrombocytopeni... ORPHA:77293
Good Syndrome
Sinusitis, Recurrent skin infections, Diarrhea, Bronchiectasis, Dysphagia ORPHA:169105
Aromatic L-Amino Acid Decarboxylase Deficiency
Feeding difficulties in infancy, Constipation, Gastroesophageal reflux, Diarrhea OMIM:608643
Pituitary Hormone Deficiency, Combined, 6
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Decreased... OMIM:613986
Bernard-Soulier Syndrome
Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Hematemesis, Giant platelets, Macr... ORPHA:274
Bronchial Neuroendocrine Tumor
Pneumonia, Anorexia, Poor appetite, Bowel urgency, Elevated circulating growth hormone concentrat... ORPHA:97287
Gyrate Atrophy Of Choroid And Retina
Hyperornithinemia, Aminoaciduria, Abnormal hair morphology ORPHA:414
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia OMIM:188025
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility... ORPHA:572333
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Skin rash, Failure to thrive in infancy, Pustule, Chronic diarrhea, Acute otitis media, Recurrent... ORPHA:35078
Omenn Syndrome
Pneumonia, Chronic diarrhea, Thyroiditis, Erythroderma, Failure to thrive ORPHA:39041
Netherton Syndrome
Sparse scalp hair, Sparse eyelashes, Ectopic kidney, Sparse eyebrow, Abnormal hair morphology, Fi... ORPHA:634
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Thrombocytopenia OMIM:616576
Bruck Syndrome 2
Inguinal hernia, Flexion contracture, Elbow flexion contracture, Knee flexion contracture, Platys... OMIM:609220
Cardiac Diverticulum
Abnormal EKG, Mitral stenosis, Angina pectoris, Tricuspid stenosis, Congestive heart failure, Ven... ORPHA:1686
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Tricuspid regurgitation, Cryptorchidism, Right bundle branch block, Mitral regurgitation, Pulmoni... OMIM:617506
Osteopetrosis With Renal Tubular Acidosis
Pancytopenia, Elevated circulating creatine kinase concentration, Thrombocytopenia, Leukopenia, E... ORPHA:2785
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary insufficiency, Bradycardia OMIM:614437
Transcobalamin Ii Deficiency
Diarrhea, Failure to thrive, Vomiting OMIM:275350
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Feeding difficulties in infancy, Cryptorchidism, Overweight, Chronic diarrhea, Chronic constipati... ORPHA:500055
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Cryptorchidism, HbH hemoglobin, Microcytic anemia ORPHA:98791
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Elevated amniotic fluid alpha-fetoprotein, HbH hemoglobin ORPHA:423479
Fabry Disease
Abdominal pain, Diarrhea, Tenesmus, Vomiting, Nausea OMIM:301500
Fetal And Neonatal Alloimmune Thrombocytopenia
Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Neonatal alloimmune thrombocytopenia, Intra... ORPHA:853
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Portal hypertension, Leukopenia, Pulmonary arterial hypertension, Th... ORPHA:974
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Dysphagia, Difficulty walking, Sinus bradycardia OMIM:619482
Immunodeficiency 25
Recurrent pneumonia, Erythroderma, Protracted diarrhea OMIM:610163
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis, Methemoglobinemia, Polycythemia OMIM:250800
Developmental And Epileptic Encephalopathy 50
Diarrhea, Failure to thrive, Dysphagia OMIM:616457
Perlman Syndrome
Nephrogenic rest, Hypoglycemia, Renal hamartoma, Congenital diaphragmatic hernia, Large for gesta... OMIM:267000
Mucopolysaccharidosis, Type Ii
Intestinal pseudo-obstruction, Diarrhea, Recurrent pneumonia, Macroglossia, Recurrent otitis media OMIM:309900
Gaucher Disease, Perinatal Lethal
Akinesia, Progressive neurologic deterioration, Thrombocytopenia, Splenomegaly, Hepatosplenomegal... OMIM:608013
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Sinusitis, Aplasia of the thymus, Pneumonia, Skin rash, Dia... OMIM:102700
Gaucher Disease
Pancytopenia, Ataxia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Sp... ORPHA:355
Blue Rubber Bleb Nevus
Iron deficiency anemia, Intestinal bleeding, Thrombocytopenia OMIM:112200
Pmm2-Cdg
Multiple joint contractures, Elevated circulating thyroid-stimulating hormone concentration, Hype... ORPHA:79318
Proteasome-Associated Autoinflammatory Syndrome 3
Hypertriglyceridemia, Splenomegaly, Anemia, Lymphopenia, Thrombocytopenia OMIM:617591
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Failure to thrive in infancy, Feeding difficulties in infancy, Chronic diarrhea, Hepatitis, Gastr... OMIM:613385
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypertension, Hypokalemia, Elevated serum 11-deoxycortisol, Decreased testicular size, Decreased ... OMIM:202010
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Thrombocytopenia OMIM:259710
Glycogen Storage Disease Ic
Hepatomegaly, Renal insufficiency, Proteinuria, Hypoglycemia, Chronic pancreatitis, Hyperlipidemi... OMIM:232240
Molybdenum Cofactor Deficiency, Complementation Group C
Axial hypotonia, Hypouricemia, Limb hypertonia, Increased urinary taurine, Hypertonia, Hypertauri... OMIM:615501
Canavan Disease
Elevated urinary N-acetylaspartic acid level, Hypotonia, Increased circulating N-acetylaspartic a... OMIM:271900
Letterer-Siwe Disease
Hepatosplenomegaly, Anemia, Irritability, Neutropenia, Thrombocytopenia OMIM:246400
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Xeroderma Pigmentosum
Alopecia, Ataxia, Cryptorchidism, Aminoaciduria, Hypogonadism, Spasticity, Failure to thrive, Dec... ORPHA:910
Smith-Kingsmore Syndrome
Cryptorchidism, Thrombocytopenia OMIM:616638
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Superficial dermal perivascular inflammatory infiltrate, Diarrhea, V... ORPHA:324636
Mucopolysaccharidosis, Type Iiib
Diarrhea OMIM:252920
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia, Hypercapnia OMIM:601887
Hutchinson-Gilford Progeria Syndrome
Absent eyebrow, Female hypogonadism, Alopecia totalis, Decreased serum leptin, Insulin resistance... ORPHA:740
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Arterial rupture, Thrombocytopenia OMIM:612394
Autoimmune Lymphoproliferative Syndrome
Gastritis, Glomerulonephritis, Hepatitis, Uveitis, Thyroiditis, Arthritis, Colitis, Panniculitis,... ORPHA:3261
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Familial Expansile Osteolysis
Hydroxyprolinuria OMIM:174810
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent inner dynein arms, Absent outer dynein arms, Immotile sperm, Abdominal s... OMIM:614874
Braddock-Carey Syndrome 2
Thrombocytopenia OMIM:619981
Trichothiodystrophy 1, Photosensitive
Intestinal obstruction, Small for gestational age, Malabsorption, Chronic diarrhea, Keratoconjunc... OMIM:601675
Hypokalemic Periodic Paralysis, Type 1
Hypokalemia OMIM:170400
Mucopolysaccharidosis, Type Iiia
Diarrhea OMIM:252900
Beckwith-Wiedemann Syndrome
Ureteral duplication, Congenital diaphragmatic hernia, Large for gestational age, Neonatal hypogl... ORPHA:116
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Amyloidosis, Hereditary, Transthyretin-Related
Episodic vomiting, Diarrhea, Constipation OMIM:105210
Diamond-Blackfan Anemia 1
Macrocytic anemia, Tricuspid stenosis, Congenital hypoplastic anemia, Congestive heart failure, R... OMIM:105650
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Inguinal hernia, Ketonuria, Small for gestational age, Hypospadias, Ataxia, Hypoglycemia, Highly ... OMIM:220111
Congenital Disorder Of Glycosylation, Type Iig
Cryptorchidism, Thrombocytopenia, Giant platelets, Anemia OMIM:611209
21Q22.11Q22.12 Microdeletion Syndrome
Hyperactivity, Thrombocytopenia, Tongue thrusting, Self-injurious behavior, Stereotypical body ro... ORPHA:261323
Ciliary Dyskinesia, Primary, 14
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... OMIM:613807
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Acne, Secretory diarrhea, Seborrheic dermatitis OMIM:167100
Thrombocytopenia 3
Thrombocytopenia, Epistaxis, Decreased mean platelet volume OMIM:273900
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia OMIM:618849
Aspartylglucosaminuria
Beaking of vertebral bodies, Hepatomegaly, Aspartylglucosaminuria, Kyphosis, Hypotonia, Platyspon... OMIM:208400
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Diarrhea, Anorexia, Malabsorption ORPHA:33226
Bartter Syndrome Type 4
Hyponatremia, Hypochloremia, Hypertension, Hypokalemia, Hyperaldosteronism, Increased circulating... ORPHA:89938
Immunodeficiency 10
Autoimmune hemolytic anemia, Thrombocytopenia OMIM:612783
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abdominal distention, Chronic diarrhea, Bronchiectasis, Gastroesophageal reflux, Vomiting, Recurr... OMIM:620233
Sea-Blue Histiocytosis
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis ORPHA:158029
Melas
Hypoparathyroidism, Intestinal pseudo-obstruction, Gastrointestinal dysmotility, Diarrhea, Vomiti... ORPHA:550
Mirizzi Syndrome
Tachycardia, Hyperbilirubinemia, Anorexia ORPHA:521219
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:90695
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Hyponatremia, Portal hypertension, Hypersplenism, Splenomegaly, Hepa... ORPHA:731
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Caroli Syndrome
Portal hypertension, Conjugated hyperbilirubinemia, Hematemesis, Leukocytosis, Hypersplenism, Mel... ORPHA:480520
Fanconi Anemia, Complementation Group E
Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Thrombocytopenia, Reticulocytopenia... OMIM:600901
Frontometaphyseal Dysplasia 2
Feeding difficulties in infancy, Pyloric stenosis, Cryptorchidism, Patent ductus arteriosus, Clef... OMIM:617137
Rift Valley Fever
Anorexia, Hematemesis, Thrombocytopenia, Retinal hemorrhage, Melena, Anemia ORPHA:319251
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Hoyeraal-Hreidarsson Syndrome
Abnormal leukocyte morphology, Thrombocytopenia, Ataxia, Anemia ORPHA:3322
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Abdominal distention, Microcolon OMIM:619362
Dyskeratosis Congenita, Autosomal Dominant 3
Pancytopenia, Aplastic anemia, Ataxia, Cryptorchidism, Leukopenia, Thrombocytopenia OMIM:613990
Listeriosis
Pericarditis, Osteomyelitis, Pneumonia, Abdominal pain, Pustule, Myocarditis, Diarrhea, Peritonit... ORPHA:533
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Hartnup Disease
Abnormal urinary color, Ataxia, Hypotonia, Neutral hyperaminoaciduria ORPHA:2116
Sarcoidosis
Hemolytic anemia, Abnormal cardiac ventricular function, Hypercalcemia, Portal hypertension, Eosi... ORPHA:797
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Diarrhea, Hypoplasia of the thymus OMIM:619313
Diamond-Blackfan Anemia
Acute myeloid leukemia, Thrombocytosis, Pure red cell aplasia, Erythroid hypoplasia, Reticulocyto... ORPHA:124
Braddock-Carey Syndrome 1
Thrombocytopenia OMIM:619980
Molybdenum Cofactor Deficiency, Complementation Group B
Hypouricemia, Xanthine nephrolithiasis, Increased urinary sulfite level, Xanthinuria, Hypotonia, ... OMIM:252160
Hamamy Syndrome
Prolonged QRS complex, Microcytic anemia, Cryptorchidism, Mitral regurgitation, Hypochromic anemia OMIM:611174
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Steatorrhea, Persistence of hemoglobin F,... OMIM:260400
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Hepatosp... ORPHA:331206
Cutis Laxa, Autosomal Recessive, Type Iid
Right bundle branch block, Congestive heart failure, Hypertrophic cardiomyopathy, Bilateral crypt... OMIM:617403
Multiple Endocrine Neoplasia Type 2
Aganglionic megacolon, Thyroid C cell hyperplasia, Abdominal distention, Abnormal tongue morpholo... ORPHA:653
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Low-to-normal blood pressure, Hypochloremia, ... OMIM:241200
Trichohepatoneurodevelopmental Syndrome
Decreased body weight, Patent ductus arteriosus, Chronic diarrhea, Feeding difficulties, Macroglo... OMIM:618268
Primary Hyperoxaluria
Hyperoxaluria, Heart block, Raynaud phenomenon, Arterial occlusion, Cardiomyopathy, Intermittent ... ORPHA:416
Zika Virus Disease
Thrombocytopenia ORPHA:448237
Chronic Graft Versus Host Disease
Fasciitis, Anorexia, Abdominal pain, Urinary bladder inflammation, Esophageal stricture, Diarrhea... ORPHA:99921
Trichothiodystrophy 5, Nonphotosensitive
Chronic diarrhea, Panhypopituitarism, Decreased testicular size OMIM:300953
Kawasaki Disease
Nausea and vomiting, Pericarditis, Skin rash, Abdominal pain, Myocarditis, Diarrhea, Hepatitis, C... ORPHA:2331
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormal hemoglobin, Cryptorchidism, Depression, Self-injurious behavior, Anemia ORPHA:847
Nelson Syndrome
Testicular neoplasm, Intracranial hemorrhage, Hypertension, Hypokalemia, Increased circulating co... ORPHA:199244
Thrombocytopenia 1
Epistaxis, Decreased mean platelet volume, Intermittent thrombocytopenia, Joint hemorrhage, Conge... OMIM:313900
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyponatremia, Cryptorchidism, Hyperkalemia OMIM:201810
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Hyperinsulinemia ORPHA:66518
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Failure to thrive, Chronic diarrhea, Feeding difficulties, Dysphagia OMIM:620358
Riddle Syndrome
Pneumonia, Abdominal pain, Diarrhea, Recurrent pneumonia, Weight loss, Arthritis, Otitis media, R... ORPHA:420741
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Broad-based gait, Pancytopenia, Abnormality of the spleen, Thro... ORPHA:2072
Diarrhea 10, Protein-Losing Enteropathy Type
Cryptorchidism, Secretory diarrhea, Feeding difficulties, Hematochezia, Protein-losing enteropathy OMIM:618183
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, Pneumonia, Chronic diarrhea, Otitis media, Failure to thrive OMIM:602450
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Testicular atrophy, Thrombocytopenia OMIM:613987
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... OMIM:617091
Sarcoidosis, Susceptibility To, 1
Anorexia, Iridocyclitis, Enlarged lacrimal glands, Bronchiectasis, Uveitis, Weight loss, Arthriti... OMIM:181000
Hermansky-Pudlak Syndrome 9
Leukopenia, Abnormal platelet aggregation, Thrombocytopenia OMIM:614171
Gaucher Disease, Type Ii
Progressive neurologic deterioration, Thrombocytopenia, Splenomegaly, Dysphagia, Anemia OMIM:230900
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Nijmegen Breakage Syndrome
Conjunctival telangiectasia, Hyperactivity, Premature ovarian insufficiency, Autoimmune hemolytic... OMIM:251260
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia OMIM:300971
Fructose-1,6-Bisphosphatase Deficiency
Reye syndrome-like episodes, Diarrhea, Vomiting ORPHA:348
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia OMIM:602722
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Low-to-normal blood pressure, ... OMIM:601678
Systemic Lupus Erythematosus
Hemolytic anemia, Raynaud phenomenon, Depression, Hypertension, Leukopenia, Thrombocytopenia ORPHA:536
3-Hydroxy-3-Methylglutaric Aciduria
Acute pancreatitis, Anorexia, Reye syndrome-like episodes, Diarrhea, Weight loss, Episodic vomiting ORPHA:20
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Psoriasiform dermatitis, Diarrhea, Arthritis, Gastroesophageal reflux, Chronic oral candidiasis, ... ORPHA:221139
Dimethylglycine Dehydrogenase Deficiency
Elevated circulating N,N-dimethylglycine concentration, Elevated circulating creatine kinase conc... OMIM:605850
Ghosal Hematodiaphyseal Dysplasia
Refractory anemia, Leukopenia, Thrombocytopenia OMIM:231095
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Failure to thrive, Chronic diarrhea, Erythroderma ORPHA:169154
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophagocytosis, Neutropenia, Agra... OMIM:301078
Fanconi Anemia, Complementation Group C
Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Thrombocytopenia, Reticulocytopenia... OMIM:227645
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility, Asplenia OMIM:618948
Maternal Uniparental Disomy Of Chromosome 6
Hydrocele testis, Thrombocytopenia ORPHA:96181
Beemer-Ertbruggen Syndrome
Cryptorchidism, Thrombocytopenia ORPHA:1237
Mucoepithelial Dysplasia, Hereditary
Pneumonia, Chronic diarrhea, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Furrowed ton... OMIM:158310
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Supernumerary nipple, Pyloric stenosis, Submucous cleft hard palate, Chronic diarrhea, High palate ORPHA:457279
Alport Syndrome 1, X-Linked
Hypertension, Thrombocytopenia OMIM:301050
Fanconi Anemia, Complementation Group D2
Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Thrombocytopenia, Reticulocytopenia... OMIM:227646
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Abnormal renal morphology, Oligozoospermia, Obstructive az... ORPHA:48
Fanconi Anemia, Complementation Group B
Hypogonadism, Aplastic anemia, Hypergonadotropic hypogonadism, Thrombocytopenia OMIM:300514
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, Prostatitis, Epididymitis, Chronic diarrhea, Bronchiectasis, Recurrent pne... OMIM:300755
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Hypomagnesemia ORPHA:564178
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Ileal atresia, Abdominal distention, Patent ductus arteriosus, Peritonitis, Pyelonephritis, Micro... OMIM:619351
Primary Sjögren Syndrome
Normocytic anemia, Raynaud phenomenon, Vasculitis, Depression, Leukopenia, Normochromic anemia, D... ORPHA:289390
Histidinuria Due To A Renal Tubular Defect
Impaired histidine renal tubular absorption, Histidinuria OMIM:235830
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Severe B lymphocytopenia, Portal hypertension, Cryptorchidism, Thrombocytopenia... OMIM:620005
Cockayne Syndrome Type 1
Cryptorchidism, Diarrhea, Uveitis, Conjunctivitis, Failure to thrive ORPHA:90321
Hereditary Orotic Aciduria
Orotic acid crystalluria, Splenomegaly, Abnormality of the ureter, Aminoaciduria, Oroticaciduria ORPHA:30
Platelet Disorder, Undefined
Impaired platelet aggregation, Thrombocytopenia OMIM:173420
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:620197
Tubulointerstitial Nephritis And Uveitis Syndrome
Renal lymphocytic tubulitis, Elevated circulating C-reactive protein concentration, Anorexia, Ele... ORPHA:91500
Mucopolysaccharidosis, Type Iiid
Diarrhea, Dysphagia, Macroglossia, Tube feeding, Recurrent otitis media OMIM:252940
Hermansky-Pudlak Syndrome 2
Absent platelet dense granules, Decreased CD4:CD8 ratio, Splenomegaly, Impaired ADP-induced plate... OMIM:608233
Combined Immunodeficiency Due To Crac Channel Dysfunction
Splenomegaly, Hemolytic anemia, Thrombocytopenia ORPHA:169090
Cerebrotendinous Xanthomatosis
Cholelithiasis, Pseudobulbar paralysis, Diarrhea OMIM:213700
Methemoglobinemia And Ambiguous Genitalia
Cyanosis, Methemoglobinemia OMIM:250790
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:95494
Pseudo-Torch Syndrome 1
Splenomegaly, Thrombocytopenia OMIM:251290
Dyskeratosis Congenita
Telangiectasia of the skin, Abnormality of neutrophils, Thrombocytopenia, Splenomegaly, Abnormal ... ORPHA:1775
Immunodeficiency 55
Diarrhea, Recurrent skin infections, Eczema OMIM:617827
Recon Progeroid Syndrome
Thrombocytopenia, Anemia OMIM:620370
Congenital Disorder Of Glycosylation, Type It
Chronic diarrhea, Hepatitis, Cleft palate, Chronic hepatitis, Vomiting, Recurrent otitis media, B... OMIM:614921
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Abnormality of thrombocytes, Cryptorchidism, Thrombocytopenia, Splen... ORPHA:567
Hardikar Syndrome
Portal hypertension, Hematemesis, Hypersplenism, Splenomegaly, Hepatosplenomegaly, Hypertension, ... OMIM:301068
Friedreich Ataxia 2
Abnormal EKG, Concentric hypertrophic cardiomyopathy, Ataxia, Congestive heart failure OMIM:601992
Fanconi Anemia
Pyridoxine-responsive sideroblastic anemia, Cryptorchidism, Anemia, Azoospermia, Decreased fertil... ORPHA:84
Cutis Laxa, Autosomal Recessive, Type Iic
Aortic regurgitation, Bilateral cryptorchidism, Tricuspid regurgitation, Right bundle branch block OMIM:617402
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopenia OMIM:605432
Ectodermal Dysplasia-Skin Fragility Syndrome
Chapped lip, Recurrent skin infections, Abnormal tongue morphology, Chronic diarrhea, Recurrent p... ORPHA:158668
Ectodermal Dysplasia And Immunodeficiency 2
Aplasia of the sweat glands, Failure to thrive, Chronic diarrhea, Recurrent infection of the gast... OMIM:612132
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Fanconi Anemia, Complementation Group F
Anemia, Cryptorchidism, Thrombocytopenia, Leukopenia OMIM:603467
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Aganglionic megacolon, Abdominal pain, Ileus, Constipation, Microcolon ORPHA:163746
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Pneumonia, Anorexia, Oral-phar... ORPHA:95455
Rothmund-Thomson Syndrome Type 2
Small for gestational age, Cryptorchidism, Diarrhea, Functional abnormality of the gastrointestin... ORPHA:221016
Dubowitz Syndrome
Abnormality of neutrophils, Cryptorchidism, Thrombocytopenia, Acute lymphoblastic leukemia, Atten... ORPHA:235
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertyrosinemia, Gastrointestinal hemorrhage, Failure to thrive in infancy, Poor appetite, Diarrhea ORPHA:247598
Cerebellar-Facial-Dental Syndrome
Abnormal T-wave, Cryptorchidism ORPHA:444072
Sandhoff Disease
Macroglossia, Chronic diarrhea, Episodic abdominal pain OMIM:268800
Rothmund-Thomson Syndrome Type 1
Small for gestational age, Cryptorchidism, Diarrhea, Functional abnormality of the gastrointestin... ORPHA:221008
Leukocyte Adhesion Deficiency Type Ii
Severe periodontitis, Small for gestational age, Protruding tongue, Keratitis, Chronic diarrhea, ... ORPHA:99843
Farber Disease
Thrombocytopenia, Anemia, Hepatosplenomegaly ORPHA:333
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Cryptorchidism, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, HbH hemoglobin... OMIM:301040
Alg9-Cdg
Villous atrophy, Diarrhea, Hypoplasia of the ovary, Gastroesophageal reflux, Hypoplastic nipples,... ORPHA:79328
Aicardi-Goutières Syndrome
Neonatal alloimmune thrombocytopenia, Raynaud phenomenon, Hepatosplenomegaly, Chronic lymphatic l... ORPHA:51
Japanese Encephalitis
Anorexia, Abdominal pain, Diarrhea, Vomiting, Infectious encephalitis ORPHA:79139
Agammaglobulinemia 9, Autosomal Recessive
Thrombocytopenia, Absent circulating B cells OMIM:619693
Rothmund-Thomson Syndrome
Skin rash, Small for gestational age, Nasogastric tube feeding in infancy, Diarrhea, Vomiting, Ma... ORPHA:2909
Paget Disease Of Bone 2, Early-Onset
Hydroxyprolinuria, Sandwich appearance of vertebral bodies, Vertebral compression fracture, Hyper... OMIM:602080
Renal Tubular Acidosis Iii
Hypokalemia OMIM:267200
Omphalocele Syndrome, Shprintzen-Goldberg Type
Feeding difficulties in infancy, Chronic diarrhea, Gastroesophageal reflux, Anal atresia ORPHA:3164
X-Linked Intellectual Disability, Armfield Type
Inguinal hernia, Cryptorchidism, Aminoaciduria, Galactosuria, Organic aciduria ORPHA:85276
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Failure to thrive, Small for gestational age, Intestinal malrotation, Exocrine pancreatic insuffi... ORPHA:2255
Congenital Heart Defects, Multiple Types, 9
Pulmonic stenosis, Left axis deviation OMIM:620294
Trichohepatoenteric Syndrome 1
Villous atrophy, Small for gestational age, Hepatic failure, Intractable diarrhea, Failure to thr... OMIM:222470
Jacobsen Syndrome
Thrombocytopenia, Cryptorchidism, Aortic valve stenosis, Attention deficit hyperactivity disorder ORPHA:2308
Immunodeficiency 36 With Lymphoproliferation
Chronic diarrhea, Bronchiectasis OMIM:616005
Hypomagnesemia 2, Renal
Hypokalemia, Hypomagnesemia OMIM:154020
Alkaptonuria
Intervertebral disk calcification, Aminoaciduria, Prostatitis, Nephrolithiasis ORPHA:56
Chikungunya
Maculopapular exanthema, Skin rash, Erythema nodosum, Diarrhea, Crusting erythematous dermatitis,... ORPHA:324625
Mogs-Cdg
Hydrocele testis, Thrombocytopenia, Hepatosplenomegaly ORPHA:79330
Dyskeratosis Congenita, Autosomal Recessive 1
Pancytopenia, Aplastic anemia, Thrombocytopenia OMIM:224230
Lathosterolosis
Thrombocytopenia, Anisopoikilocytosis, Abnormal platelet morphology ORPHA:46059
Porphyria, Congenital Erythropoietic
Elevated circulating uroporphyrin concentration, Hemolytic anemia, Thrombocytopenia, Splenomegaly OMIM:263700
Nijmegen Breakage Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Acute leukemia, Attention deficit hyperactivity di... ORPHA:647
Aspartylglucosaminuria
Hepatomegaly, Inguinal hernia, Aspartylglucosaminuria, Splenomegaly, Anterior beaking of lumbar v... ORPHA:93
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Hyperaldosteronism OMIM:613090
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Mucopolysaccharidosis Type 3
Malabsorption, Macroglossia, Constipation, Otitis media, Dysphagia, Chronic otitis media, Intermi... ORPHA:581
Kasabach-Merritt Syndrome
Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An... ORPHA:2330
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimulation test, High, narrow palate, Cryptorchidism, Chron... OMIM:615873
Helix Syndrome
Hypokalemia, Polydipsia, Hypermagnesemia OMIM:617671
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Splenomegaly, Ataxia, Thrombocytopenia, Truncal ataxia OMIM:301072
Cornelia De Lange Syndrome 1
Cryptorchidism, Self-injurious behavior, Thrombocytopenia OMIM:122470
Zttk Syndrome
Absent gallbladder, Feeding difficulties in infancy, Patent ductus arteriosus, Submucous cleft ha... OMIM:617140
Fibular Hemimelia
Thrombocytopenia, Difficulty walking ORPHA:93323
Osteogenesis Imperfecta
Aortic regurgitation, Ataxia, Cerebral hemorrhage, Gait disturbance, Dysphagia, Loss of ambulatio... ORPHA:666
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility, Abdominal situs inversus OMIM:619607
Hurler Syndrome
Macroglossia, Rhinitis, Chronic diarrhea, Feeding difficulties ORPHA:93473
Thrombocytopenia-Absent Radius Syndrome
Thrombocytopenia ORPHA:3320
Ivic Syndrome
Leukocytosis, Thrombocytopenia OMIM:147750
Noonan Syndrome 1
Male infertility, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Cryptorchid... OMIM:163950
Dyskeratosis Congenita, X-Linked
Acute myeloid leukemia, Pancytopenia, Ataxia, Cryptorchidism, Thrombocytopenia, Leukopenia, Decre... OMIM:305000
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Hyperaldosteronism, Polydipsia OMIM:602522
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia, Hypokalemia, Cyanosis, Ataxia OMIM:618426
Cushing Syndrome Due To Ectopic Acth Secretion
Malignant gastrointestinal tract tumors, Pancreatic adenocarcinoma, Adrenal hyperplasia, Acne, Ne... ORPHA:99889
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia, Absent vas deferens OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia, Absent vas deferens OMIM:277180
Mowat-Wilson Syndrome
Decreased body weight, Aganglionic megacolon, Bowel incontinence, Cleft hard palate, Pyloric sten... ORPHA:2152
Ataxia-Telangiectasia
Sinusitis, Chronic diarrhea, Bronchiectasis, Hypoplasia of the thymus, Failure to thrive OMIM:208900
Ciliary Dyskinesia, Primary, 1
Male infertility, Absent outer dynein arms, Asplenia OMIM:244400
Jacobsen Syndrome
Cryptorchidism, Thrombocytopenia OMIM:147791
Digeorge Syndrome
Thrombocytopenia, Splenomegaly, Hydrocele testis, Hypoplasia of the thymus, Hypocalcemia, Attenti... OMIM:188400
Thrombocytopenia-Absent Radius Syndrome
Eosinophilia, Leukocytosis, Hepatosplenomegaly, Anemia, Thrombocytopenia OMIM:274000
Viss Syndrome
Chronic gastritis, High, narrow palate, High palate, Gastroesophageal reflux, Broad uvula, Bifid ... OMIM:619472
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Thrombocytopenia, Increased mean platelet volume ORPHA:487796
Occipital Horn Syndrome
Chronic diarrhea, High palate, Hiatus hernia OMIM:304150
Roberts Syndrome
Cryptorchidism, Thrombocytopenia ORPHA:3103
Histidinemia
Histidinuria, Hyperactivity, Hyperhistidinemia ORPHA:2157
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Gastroparesis, Failure to thrive in infancy, Feeding difficulties in infancy,... ORPHA:500150
Congenital Disorder Of Glycosylation, Type Iiw
Splenomegaly, Thrombocytopenia, Anemia, Microcytic anemia OMIM:619525
Nmda Receptor Encephalitis
Ovarian teratoma, Diarrhea, Vomiting, Testicular teratoma ORPHA:217253
Kanzaki Disease
Increased urinary O-linked sialopeptides, Aminoaciduria OMIM:609242
Cerebrotendinous Xanthomatosis
Cholelithiasis, Chronic diarrhea ORPHA:909
Mucopolysaccharidosis Type 2, Severe Form
Macroglossia, Chronic diarrhea, Arthritis ORPHA:217085
Mucopolysaccharidosis Type 2
Hip osteoarthritis, Macroglossia, Chronic diarrhea ORPHA:580
Mucopolysaccharidosis Type 2, Attenuated Form
Macroglossia, Chronic diarrhea, Arthritis ORPHA:217093
Vascular Ehlers-Danlos Syndrome
Telangiectasia of the skin, Transient ischemic attack, Cryptorchidism, Renovascular hypertension,... ORPHA:286
Igg4-Related Dacryoadenitis And Sialadenitis
Thrombocytopenia ORPHA:79078
Histidinemia
Histidinuria, Hyperhistidinemia OMIM:235800

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 Gatm

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 Gatm.

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

Title Journal IMPC Allele PubMed ID
Creatine-mediated crosstalk between adipocytes and cancer cells regulates obesity-driven breast cancer. Cell metabolism (February 2021) Gatmtm1c(KOMP)Wtsi 33596409
Genetic Depletion of Adipocyte Creatine Metabolism Inhibits Diet-Induced Thermogenesis and Drives Obesity. Cell metabolism (August 2017) Gatmtm1c(KOMP)Wtsi Gatmtm1a(KOMP)Wtsi 28844881

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
Gatmtm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Gatmtm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Gatmtm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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