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Gene: Cav1 MGI:102709

Gene Summary

Name:

caveolin 1, caveolae protein

Synonyms:

Cav-1, caveolin-1

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
increased circulating HDL cholesterol level	Cav1^em2(IMPC)Ics	HOM	Early adult	1.70×10^-12
increased hemoglobin content	Cav1^em2(IMPC)Ics	HOM	Early adult	2.79×10^-06
decreased grip strength	Cav1^em2(IMPC)Ics	HOM	Early adult	1.40×10^-05
increased mean corpuscular volume	Cav1^em2(IMPC)Ics	HOM	Early adult	8.71×10^-05
decreased cardiac muscle contractility	Cav1^em2(IMPC)Ics	HOM	Early adult	3.40×10^-05
increased circulating cholesterol level	Cav1^em2(IMPC)Ics	HOM	Early adult	1.13×10^-17
increased mean corpuscular hemoglobin	Cav1^em2(IMPC)Ics	HOM	Early adult	8.31×10^-05
increased heart rate	Cav1^em2(IMPC)Ics	HOM	Early adult	5.53×10^-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.

X-ray

XRay Images Whole Body Dorso Ventral

17 Images

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X-ray

XRay Images Whole Body Lateral Orientation

17 Images

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Human diseases caused by Cav1 mutations

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

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

Human diseases associated with Cav1 (6 diseases)
Human diseases predicted to be associated with Cav1 (2683 diseases)

The table below shows human diseases associated to Cav1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Lipodystrophy, Congenital Generalized, Type 3	Reduced subcutaneous adipose tissue, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Lipod...	OMIM:612526
Congenital Generalized Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Lipodystrophy, Precocious puberty in femal...	ORPHA:528
Limited Cutaneous Systemic Sclerosis	Telangiectasia of the skin, Foot joint contracture, Narrow foramen obturatorium, Pulmonary fibros...	ORPHA:220402
Diffuse Cutaneous Systemic Sclerosis	Telangiectasia of the skin, Congestive heart failure, Dyspnea, Flexion contracture, Osteolysis, A...	ORPHA:220393
Pulmonary Hypertension, Primary, 3	Increased pulmonary vascular resistance, Pulmonary arterial hypertension, Elevated pulmonary arte...	OMIM:615343
Lipodystrophy, Familial Partial, Type 7	Lack of facial subcutaneous fat, Sparse hair, Lower limb muscle weakness, Decreased adipose tissu...	OMIM:606721

The table below shows human diseases predicted to be associated to Cav1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Thyroid Cancer, Nonmedullary, 5	Non-medullary thyroid carcinoma	OMIM:616535
Thyroid Carcinoma, Familial Medullary	Medullary thyroid carcinoma	OMIM:155240
Thyroid Cancer, Nonmedullary, 3	Non-medullary thyroid carcinoma	OMIM:606240
Thyroid Cancer, Nonmedullary, 2	Non-medullary thyroid carcinoma, Papillary thyroid carcinoma, Follicular thyroid carcinoma	OMIM:188470
Female Infertility Due To Oocyte Meiotic Arrest	Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A...	ORPHA:488191
46,Xx Testicular Difference Of Sex Development	Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries	ORPHA:393
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors	Euthyroid multinodular goiter, Papillary thyroid carcinoma	OMIM:138800
Goiter, Multinodular 2	Euthyroid multinodular goiter	OMIM:300273
Thyroid Cancer, Nonmedullary, 1	Papillary thyroid carcinoma, Non-medullary thyroid carcinoma, Goiter	OMIM:188550
Hypercalciuria, Absorptive, 2	Hypercalciuria, Calcium oxalate nephrolithiasis	OMIM:143870
Cardiomyopathy, Familial Hypertrophic, 15	Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef...	OMIM:613255
Medullary Sponge Kidney	Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria	ORPHA:1309
Familial Hyperprolactinemia	Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea	ORPHA:397685
Thyroid Hormone Plasma Membrane Transport Defect	Euthyroid hyperthyroxinemia, Goiter	OMIM:188560
Deiodinase, iodothyronine, type I	Euthyroid hyperthyroxinemia, Goiter	OMIM:147892
Idiopathic Hypercalciuria	Parathormone-independent increased renal tubular calcium reabsorption, Calcium oxalate nephrolith...	ORPHA:2197
Cardiomyopathy, Dilated, 1R	Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil...	OMIM:613424
Cardiomyopathy, Dilated, 1W	Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila...	OMIM:611407
Cardiomyopathy, Dilated, 1Cc	Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila...	OMIM:613122
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P...	OMIM:310468
Cardiomyopathy, Dilated, 1M	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:607482
Thyroid Dyshormonogenesis 3	Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter	OMIM:274700
Hepatic Adenomas, Familial	Polycystic ovaries	OMIM:142330
Cardiomyopathy, Dilated, 2A	Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil...	OMIM:611880
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Glycos...	OMIM:308990
Left Ventricular Noncompaction 10	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:615396
Cardiomyopathy, Dilated, 1Jj	Reduced left ventricular ejection fraction, Dilated cardiomyopathy	OMIM:615235
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Thyroid Dyshormonogenesis 2A	Decreased circulating T4 concentration, Hypothyroidism, Thyroid defect in oxidation and organific...	OMIM:274500
Hypercalcemia, Infantile, 2	Hypercalcemia, Polyuria, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Hypophosphate...	OMIM:616963
Cardiomyopathy, Dilated, 1I	Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce...	OMIM:604765
Idiopathic/Heritable Pulmonary Arterial Hypertension	Hepatomegaly, Tricuspid regurgitation, Dyspnea, Abnormal cardiovascular system physiology, Heart ...	ORPHA:422
Thyroid Dyshormonogenesis 5	Hypothyroidism, Goiter	OMIM:274900
Thyroid Dyshormonogenesis 4	Hypothyroidism, Goiter	OMIM:274800
Cardiomyopathy, Dilated, 1Ff	Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy...	OMIM:613286
Cardiomyopathy, Dilated, 1Ee	Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ...	OMIM:613252
46,Xy Complete Gonadal Dysgenesis	Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries	ORPHA:242
Cardiomyopathy, Dilated, 2C	Reduced left ventricular ejection fraction, Pulmonary arterial hypertension, Dilated cardiomyopathy	OMIM:618189
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati...	OMIM:205950
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ...	OMIM:601493
Cardiomyopathy, Dilated, 1Dd	Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c...	OMIM:613172
Cardiomyopathy, Dilated, 1L	Increased left ventricular end-diastolic volume, Reduced systolic function, Sudden cardiac death,...	OMIM:606685
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Neonatal respiratory distress, Edema, Atelectasis, Dyspnea, Tachypnea, Pulm...	OMIM:267450
Cardiomyopathy, Dilated, 1Hh	Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy	OMIM:613881
Glycogen Storage Disease Due To Lamp-2 Deficiency	Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Cardiorespiratory arrest	ORPHA:34587
Cardiomyopathy, Dilated, 1Gg	Respiratory distress, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ...	OMIM:613642
Cardiomyopathy, Dilated, 1U	Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ...	OMIM:613694
Pentosuria	Abnormality of urine homeostasis	OMIM:260800
Cardiomyopathy, Dilated, 1J	Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card...	OMIM:605362
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co...	OMIM:617610
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2	Medullary nephrocalcinosis, Hypercalciuria	OMIM:617993
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ...	OMIM:612158
Cardiomyopathy, Dilated, 1P	Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia	OMIM:609909
Aromatase Deficiency	Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism	OMIM:613546
Atrial Fibrillation, Familial, 10	Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Left atrial enlargement,...	OMIM:614022
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr...	OMIM:618920
Cardiomyopathy, Dilated, 1Kk	Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D...	OMIM:615248
Cardiomyopathy, Dilated, 3B	Increased variability in muscle fiber diameter, Increased left ventricular end-diastolic volume, ...	OMIM:302045
Polycystic Ovary Syndrome 1	Enlarged polycystic ovaries, Oligomenorrhea, Amenorrhea	OMIM:184700
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia	ORPHA:231249
Sensorineural Deafness With Dilated Cardiomyopathy	Congestive heart failure, Abnormal cardiac ventricular function, Dilated cardiomyopathy	ORPHA:217622
Cardiomyopathy, Dilated, 1Z	Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death	OMIM:611879
Barth Syndrome	Dilated cardiomyopathy, Abnormal mitochondrial morphology, Endocardial fibroelastosis	ORPHA:111
Coronary Arterial Fistula	Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Tachypnea, Abnormal left ventricula...	ORPHA:2041
Cardiomyopathy, Dilated, 1Bb	Increased left ventricular end-diastolic volume, Congestive heart failure, Dyspnea, Dilated cardi...	OMIM:612877
Hypothyroidism, Congenital, Nongoitrous, 1	Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Thyroid hypoplasi...	OMIM:275200
Pulmonary Edema Of Mountaineers, Susceptibility To	Elevated pulmonary artery pressure, Edema, Pulmonary edema	OMIM:178400
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Hyperphosphaturia, Hypercalciuria, Nephrolithiasis, Renal phosphate wasting, Hypophosphatemia	OMIM:612286
Mitochondrial Complex Iv Deficiency, Nuclear Type 9	Hypertrophic cardiomyopathy, Cardiomyocyte mitochondrial proliferation	OMIM:616500
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Elevated hepatic transaminase, Aggressive behavior, Hyperlipidemia, Hyperinsulinemia, Obesity, Hy...	ORPHA:329249
Xp22.3 Microdeletion Syndrome	Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycystic ovaries	ORPHA:1643
Peripartum Cardiomyopathy	Crackles, Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnorm...	ORPHA:563
Atrial Septal Defect, Sinus Venosus Type	Automatic atrial tachycardia, First degree atrioventricular block, Right ventricular dilatation, ...	ORPHA:99105
Left Ventricular Noncompaction 8	Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ...	OMIM:615373
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Pneumonia, Flexion contracture, Right ven...	OMIM:253700
Pulmonary Hypertension, Primary, 5	Angina pectoris, Right ventricular failure, Exertional dyspnea, Syncope, Pulmonary arterial hyper...	OMIM:265400
Dent Disease 2	Elevated circulating creatine kinase concentration, Chronic kidney disease, Hypercalciuria, Nephr...	OMIM:300555
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ...	OMIM:615616
Cardiomyopathy, Familial Hypertrophic, 27	Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di...	OMIM:618052
Cardiomyopathy, Dilated, 1B	Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con...	OMIM:600884
Cardiomyopathy, Dilated, 1X	Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Calf muscle hypertrophy,...	OMIM:611615
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries	ORPHA:2229
Isobutyryl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy	OMIM:611283
Microcephaly-Cardiomyopathy	Dilated cardiomyopathy	OMIM:251220
Cardiomyopathy, Dilated, 1K	Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm	OMIM:605582
His Bundle Tachycardia	Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart	ORPHA:3283
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Nephrocalcinosis, Hypercalciuria, Hypercalcemia, Renal tubular acidosis	OMIM:239199
Infant Acute Respiratory Distress Syndrome	Tachycardia, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Nasal flaring, ...	ORPHA:70587
Cardiomyopathy, Dilated, 1Q	Dilated cardiomyopathy	OMIM:609915
Cardiomyopathy, Dilated, 1H	Dilated cardiomyopathy	OMIM:604288
Lipe-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Proximal muscle weakness in upper lim...	ORPHA:435660
Cardiomyopathy, Dilated, 2D	Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def...	OMIM:619371
Heart-Hand Syndrome, Slovenian Type	Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm...	ORPHA:168796
Cardiomyopathy, Dilated, 1V	Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul...	OMIM:613697
Hypouricemia, Hypercalcinuria, And Decreased Bone Density	Hypouricemia, Hypercalciuria	OMIM:242050
Carvajal Syndrome	Congestive heart failure, Dilated cardiomyopathy	ORPHA:65282
Bronchopulmonary Dysplasia	Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Right ve...	ORPHA:70589
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4	Calf muscle pseudohypertrophy, Scapular winging, Pelvic girdle muscle atrophy, Limb-girdle muscle...	OMIM:604286
Trimethylaminuria	Tachycardia, Splenomegaly, Hypertension, Neutropenia, Anemia	OMIM:602079
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Cardiomyopathy, Familial Hypertrophic, 3	Hypertrophic cardiomyopathy, Sudden cardiac death	OMIM:115196
Premature Ovarian Failure 3	Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea	OMIM:608996
Congenital Heart Defects, Multiple Types, 5	Atrial fibrillation, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomyopathy, Do...	OMIM:617912
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	First degree atrioventricular block, Peroneal muscle atrophy, Limb-girdle muscle weakness, Decrea...	OMIM:181350
Thyroid Hormone Resistance, Generalized, Autosomal Dominant	Increased circulating free T3, Increased circulating free T4 concentration, Impaired sensitivity ...	OMIM:188570
Endometriosis, Susceptibility To, 1	Decreased fertility, Dysmenorrhea, Endometriosis	OMIM:131200
Intrinsic Factor Deficiency	Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo...	OMIM:261000
Lipodystrophy, Familial Partial, Type 1	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Hypertriglyceride...	OMIM:608600
Hypercalcemia, Infantile, 1	Hypercalcemia, Polyuria, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Medullary nephrocalci...	OMIM:143880
Hereditary Renal Hypouricemia	Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Increased blood...	ORPHA:94088
46,Xx Ovotesticular Difference Of Sex Development	Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H...	ORPHA:2138
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Congestive heart failur...	OMIM:608099
Cidec-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ...	ORPHA:435651
Lipodystrophy, Familial Partial, Type 3	Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su...	OMIM:604367
Cardiomyopathy, Dilated, 2B	Reduced left ventricular ejection fraction, Congestive heart failure, Atrial fibrillation, Dilate...	OMIM:614672
Left Ventricular Noncompaction 2	Left ventricular noncompaction cardiomyopathy	OMIM:609470
High Altitude Pulmonary Edema	Orthopnea, Tachycardia, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough, Pulmonary edema	ORPHA:330012
Plin1-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer...	ORPHA:280356
Atrial Septal Defect, Coronary Sinus Type	Bundle branch block, Right ventricular dilatation, Unroofed coronary sinus, Anomalous pulmonary v...	ORPHA:99104
Cardiomyopathy, Familial Hypertrophic, 9	Hypertrophic cardiomyopathy	OMIM:613765
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l...	ORPHA:79085
Myopathy, Myofibrillar, 1	Facial palsy, Respiratory insufficiency due to muscle weakness, Dilated cardiomyopathy, EMG: myop...	OMIM:601419
Multiple Symmetric Lipomatosis	Hepatomegaly, Insulin resistance, Abnormal adipose tissue morphology, Multiple lipomas	ORPHA:2398
Hypertriglyceridemia 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:619324
Hypocalcemia, Autosomal Dominant 1	Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Hypokalemia, Hyperphosphatemia, Increased circ...	OMIM:601198
Fetal Iodine Deficiency Disorder	Congenital goiter, Congenital hypothyroidism	OMIM:228355
Congenital Gerbode Defect	Elevated right atrial pressure, Tricuspid regurgitation, Left-to-right shunt, Ventricular septal ...	ORPHA:99095
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Congestive heart failure, Quadriceps muscle weakness, Dilated cardiomyopathy, Elbow flexion contr...	ORPHA:206546
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive	Thenar muscle atrophy, Dilated cardiomyopathy, Distal lower limb muscle weakness, Interosseus mus...	OMIM:619903
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes melli...	ORPHA:71529
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypogl...	ORPHA:324575
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Failure to thrive, Hypoglycemia, Hypergonadotropic hypogonadism, Elevated circulati...	OMIM:617872
Premature Ovarian Failure 5	Streak ovary, Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Hypoplas...	OMIM:611548
Atrial Septal Defect, Ostium Primum Type	First degree atrioventricular block, Tachypnea, Atrioventricular block, Fixed splitting of the se...	ORPHA:99106
Familial Isolated Restrictive Cardiomyopathy	Orthopnea, Recurrent respiratory infections, Atrial fibrillation, Tricuspid regurgitation, Suprav...	ORPHA:75249
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Respiratory distress, Facial palsy, Respiratory insufficiency due to muscle weakness, Dilated car...	OMIM:300580
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4	T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr...	OMIM:602087
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Rig...	ORPHA:99103
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Familial Pseudohyperkalemia	Reticulocytosis, Hyperkalemia, Hypertension, Stomatocytosis, Increased mean corpuscular volume, E...	ORPHA:90044
Adult Acute Respiratory Distress Syndrome	Shock, Pneumonia, Dyspnea, Vasculitis, Hypoxemia, Respiratory failure, Abnormal blood gas level, ...	ORPHA:70578
Complete Atrioventricular Septal Defect	Crackles, Cardiomegaly, Tachypnea, Atrioventricular block, Primum atrial septal defect, Displacem...	ORPHA:1329
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog...	OMIM:616689
Coronary Artery Disease, Autosomal Dominant, 1	Hypercholesterolemia, Hypertension, Myocardial infarction	OMIM:608320
Congenitally Uncorrected Transposition Of The Great Arteries	Cardiac shunt, Cardiomegaly, Tachypnea, Dextrotransposition of the great arteries, Abnormality of...	ORPHA:860
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Hepatomegaly, Tricuspid regurgitation, Cyanosis, Congestive heart failure, ...	ORPHA:2414
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Obesity, Incre...	OMIM:615703
Cardiomyopathy, Dilated, 1O	Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co...	OMIM:608569
Lipodystrophy, Congenital Generalized, Type 3	Reduced subcutaneous adipose tissue, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Lipod...	OMIM:612526
Cardiomyopathy, Familial Restrictive, 1	Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement, Sudden cardiac...	OMIM:115210
Familial Isolated Hyperparathyroidism	Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Hypophos...	ORPHA:99879
Combined Oxidative Phosphorylation Defect Type 23	Wolff-Parkinson-White syndrome, Cyanosis, Congestive heart failure, Severely reduced left ventric...	ORPHA:444013
Thrombocytopenia 5	Epistaxis, B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia...	OMIM:616216
Glycogen Storage Disease 0, Muscle	Left ventricular hypertrophy, Cardiomyopathy, Decreased muscle glycogen content, Left atrial enla...	OMIM:611556
Heart-Hand Syndrome, Slovenian Type	Myopathy, Dilated cardiomyopathy	OMIM:610140
Rudiger Syndrome	Ovarian cyst, Micropenis, Bicornuate uterus	OMIM:268650
Perrault Syndrome 6	Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Primary amenorrhea, Second...	OMIM:617565
Hypocalciuric Hypercalcemia, Familial, Type I	Hypercalcemia, Hypermagnesemia, Nephrolithiasis, Hypercalciuria, Hypocalciuria	OMIM:145980
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e...	OMIM:619897
Fraser-Like Syndrome	Ovarian cyst	OMIM:229230
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Nephrocalcinosis, Distal renal tubular acidosis, Hypokalemia, Hypercalciuria	OMIM:602722
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Recurrent urinary tract infections, Renal magnesium wasting, Chronic kidney disease, Stage 5 chro...	OMIM:248190
Lipodystrophy, Familial Partial, Type 6	Skeletal muscle atrophy, Diabetes mellitus, Lipodystrophy, Elevated circulating creatine kinase c...	OMIM:615980
Brugada Syndrome	Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment...	ORPHA:130
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l...	OMIM:615238
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Respiratory insufficiency due to muscle weakness, Dilated cardiomyopathy, Flexion contracture, In...	OMIM:300718
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr...	OMIM:619041
Fowler Urethral Sphincter Dysfunction Syndrome	Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea	ORPHA:2795
Myopathy, Distal, 1	Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Left atrial enlargement, Facial palsy,...	OMIM:160500
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hypercalciuria, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypocalcemic seizures	ORPHA:2239
Fkrp-Related Limb-Girdle Muscular Dystrophy R9	Reduced muscle fiber alpha dystroglycan, Dilated cardiomyopathy, Calf muscle hypertrophy, Shoulde...	ORPHA:34515
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El...	ORPHA:232
Fanconi Renotubular Syndrome 2	Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Hypophosphatemia, Re...	OMIM:613388
Microcephaly-Cardiomyopathy Syndrome	Dilated cardiomyopathy, Ventricular septal defect	ORPHA:2515
Uterine Anomalies	Bicornuate uterus, Abnormality of the uterus	OMIM:192000
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3	T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr...	OMIM:602086
Obesity Due To Prohormone Convertase I Deficiency	Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia...	ORPHA:71526
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
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Right axis deviation, Elevated jugular venous pressure, Muscle fiber hyaline bodies, Centrally nu...	OMIM:255160
Ovarian Dysgenesis 2	Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrh...	OMIM:300510
Atrial Septal Defect 9	Secundum atrial septal defect, Pulmonary arterial hypertension, Bicuspid aortic valve	OMIM:614475
Ataxia, Deafness, And Cardiomyopathy	Cardiomyopathy	OMIM:208750
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Neonatal hyperbilirubinemia, Anemia of inad...	ORPHA:3202
Transient Neonatal Diabetes Mellitus	Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo...	ORPHA:99886
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric...	OMIM:614021
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Bronchiectasis, Right ventricular dilata...	OMIM:619705
Cardiomyopathy, Dilated, 1D	Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd...	OMIM:601494
Bartter Syndrome, Type 5, Antenatal, Transient	Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l...	OMIM:300971
Cardiomyopathy, Dilated, 1Oo	Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre...	OMIM:620247
Thyroid Cancer, Nonmedullary, 4	Goiter, Papillary thyroid carcinoma, Ovarian neoplasm	OMIM:616534
Ovarian Dysgenesis 6	Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primary amenorrhea	OMIM:618078
Interstitial Lung Disease 2	Dyspnea, Elevated bronchoalveolar lavage fluid neutrophil proportion, Alveolar cell carcinoma, Pu...	OMIM:178500
Insulin Autoimmune Syndrome	Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi...	ORPHA:411593
Focal Segmental Glomerulosclerosis 7	Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis...	OMIM:616002
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue	Skeletal muscle atrophy, Reduced systolic function, Dilated cardiomyopathy, Macroglossia, Calf mu...	OMIM:616827
Anemia, Hypochromic Microcytic, With Iron Overload 1	Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery...	OMIM:206100
Cardiomyopathy, Familial Hypertrophic, 25	Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Left ventricular hypertrophy	OMIM:607487
Abdominal Obesity-Metabolic Syndrome 1	Hypertension, Abdominal obesity	OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2	Hypertension, Abdominal obesity	OMIM:605572
Lipodystrophy, Familial Partial, Type 4	Hypertriglyceridemia, Lipodystrophy, Lipoatrophy, Insulin-resistant diabetes mellitus, Insulin re...	OMIM:613877
Familial Isolated Dilated Cardiomyopathy	Myopathy, Dilated cardiomyopathy	ORPHA:154
Immunodeficiency, Common Variable, 6	Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi...	OMIM:613496
Congenital Tricuspid Valve Dysplasia	Respiratory failure requiring assisted ventilation, Hepatomegaly, Tricuspid regurgitation, Cyanos...	ORPHA:555874
Pulmonary Hypertension, Primary, 1	Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc...	OMIM:178600
Short Stature Due To Primary Acid-Labile Subunit Deficiency	Decreased serum insulin-like growth factor 1, Insulin resistance, Truncal obesity, Delayed puberty	ORPHA:140941
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Excessive insulin response to glucagon test, Maternal diabetes, Large for gestation...	ORPHA:276580
Combined Oxidative Phosphorylation Deficiency 23	Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia	OMIM:616198
Cardiomyopathy, Dilated, 1Ii	Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,...	OMIM:615184
Pulmonary Capillary Hemangiomatosis	Pulmonary edema, Diffuse alveolar hemorrhage, Pericardial effusion, Pulmonary capillary hemangiom...	ORPHA:199241
Lymphatic Malformation 7	Respiratory distress, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial eff...	OMIM:617300
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen...	ORPHA:263458
Muscle Filaminopathy	Extremely elevated creatine kinase, Back pain, Scapular winging, Left ventricular diastolic dysfu...	ORPHA:171445
Hypomagnesemia 3, Renal	Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki...	OMIM:248250
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15	Dilated cardiomyopathy, Myopathy, Limb-girdle muscular dystrophy, Increased variability in muscle...	OMIM:612937
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Scapular winging, Calf muscle pseudohypertrophy, Achilles tendon contracture, Upper limb muscle w...	ORPHA:353
Cardiomyopathy, Dilated, 1G	Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A...	OMIM:604145
Severe Neurodegenerative Syndrome With Lipodystrophy	Reduced subcutaneous adipose tissue, Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Reduced i...	ORPHA:363400
Idiopathic Pulmonary Arterial Hypertension	Tricuspid regurgitation, Increased pulmonary vascular resistance, Congestive heart failure, Dyspn...	ORPHA:275766
Dpm3-Cdg	Dilated cardiomyopathy, Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weaknes...	ORPHA:263494
Congenital Dyserythropoietic Anemia Type Iii	Anisocytosis, Abnormal erythrocyte morphology, Melena, Increased mean corpuscular volume, Increas...	ORPHA:98870
Classic Multiminicore Myopathy	Absent muscle fiber merosin, Multiple joint contractures, Right ventricular failure, Intermittent...	ORPHA:324604
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hepatomegaly, Hypertrophic cardiomyopathy	ORPHA:79281
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Excessive insulin response to glucagon test, Large for gestational age, Hyperinsuli...	ORPHA:276575
Hypomagnesemia 2, Renal	Renal insufficiency, Renal magnesium wasting, Hypokalemia, Hypocalciuria, Hypomagnesemia	OMIM:154020
Systemic Capillary Leak Syndrome	Pericarditis, Pulmonary edema, Myocarditis, Cardiorespiratory arrest, Pedal edema, Hypotension, C...	ORPHA:188
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Diabetes mellitus, Recurrent skin infections, Decreased serum iron, Overweight, Repetitive compul...	ORPHA:391372
Pomt2-Related Limb-Girdle Muscular Dystrophy R14	Scapular winging, Reduced muscle fiber alpha dystroglycan, Scapuloperoneal amyotrophy, Dilated ca...	ORPHA:206559
Sitosterolemia 2	Elevated circulating sitosterol concentration, Hypercholesterolemia	OMIM:618666
Isobutyryl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy, Pulmonic stenosis	ORPHA:79159
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Congenital Myopathy 5 With Cardiomyopathy	Sudden cardiac death, Centrally nucleated skeletal muscle fibers, Congestive heart failure, Atrio...	OMIM:611705
Incessant Infant Ventricular Tachycardia	Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge...	ORPHA:45453
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Wild Type Attr Amyloidosis	Abnormal EKG, Myocardial infarction, Congestive heart failure, Abnormal pulmonary interstitial mo...	ORPHA:330001
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1	Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death	OMIM:107970
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Hypogonadotropic hypogonadism, Secondary amenorrhea, Abnormal spermatogenesis, Azoospermia, Ovari...	OMIM:228300
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia	OMIM:619855
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Hepatomegaly, Left ventricular noncompaction cardiomyopathy, Left atrial enlargement, Facial pals...	OMIM:619424
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi...	ORPHA:79506
Cardiomyopathy, Familial Hypertrophic, 4	Respiratory distress, Transient ischemic attack, Cardiac arrest, First degree atrioventricular bl...	OMIM:115197
Type 2 Diabetes Mellitus	Increased waist to hip ratio, Insulin resistance, Type II diabetes mellitus	OMIM:125853
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Right ventricular cardiomyopathy, Sudden cardiac death, Syncope, Palpitations, Ventricular arrhyt...	OMIM:610476
Cardiomyopathy, Dilated, 2F	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:619747
Premature Ovarian Failure 13	Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l...	OMIM:617442
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Abnormal circulating enzyme concentration or activity, Fatty replacement of skeletal muscle, Elev...	ORPHA:171706
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Ab...	ORPHA:210136
Cardiomyopathy, Familial Hypertrophic, 20	Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy, Atrial fibrillation, Lef...	OMIM:613876
Adult-Onset Nemaline Myopathy	Reduced vital capacity, Respiratory insufficiency due to muscle weakness, Dilated cardiomyopathy,...	ORPHA:171442
Dent Disease 1	Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N...	OMIM:300009
Blepharochalasis And Double Lip	Goiter	OMIM:109900
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Right ventricular dilatation, Restrictive ventilatory defect, Limb-girdle muscular dystrophy, Myo...	ORPHA:369847
Bone Marrow Failure And Diabetes Mellitus Syndrome	Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias	OMIM:620044
Poems Syndrome	Sclerosis of hand bone, Acrocyanosis, Polycythemia, Hypothyroidism, Fatigue, Sclerosis of foot bo...	ORPHA:2905
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat...	OMIM:616117
Atrial Fibrillation, Familial, 6	Atrial fibrillation, Elevated left ventricular end-diastolic diameter, Left atrial enlargement, R...	OMIM:612201
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Decreased HDL cholesterol concentration, Increased intraabdominal fat, Hepatic steatosis, Muscle ...	ORPHA:280365
Premature Ovarian Failure 6	Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Fe...	OMIM:612310
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Interstitial pneumon...	ORPHA:217563
Bardet-Biedl Syndrome 2	Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve	OMIM:615981
Myopathy, Myofibrillar, 3	Achilles tendon contracture, Cardiomyopathy, Distal amyotrophy, Muscle fiber cytoplasmatic inclus...	OMIM:609200
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizures, Decreased ...	ORPHA:276556
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2	Dilated cardiomyopathy	OMIM:618097
Overlap Myositis	Elevated circulating creatine kinase concentration, Perifascicular muscle fiber atrophy, Leukopen...	ORPHA:206572
Hemochromatosis, Type 2A	Hepatomegaly, Congestive heart failure, Splenomegaly, Dilated cardiomyopathy, Azoospermia, Cardio...	OMIM:602390
Lipodystrophy, Familial Partial, Type 2	Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Hepatomega...	OMIM:151660
Hypothyroidism, Congenital, Nongoitrous, 9	Decreased circulating free T4 concentration, Inappropriately normal thyroid-stimulating hormone l...	OMIM:301035
Hyperinsulinemic Hypoglycemia, Familial, 2	Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp...	OMIM:601820
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T...	ORPHA:79299
Glycogen Storage Disease Vi	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Failure to thriv...	OMIM:232700
Hyperinsulinemic Hypoglycemia, Familial, 1	Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin...	OMIM:256450
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Hepatic steat...	ORPHA:79084
Diamond-Blackfan Anemia 8	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Lipoid Congenital Adrenal Hyperplasia	Hypospadias, Renal salt wasting	OMIM:201710
Distal Myopathy With Posterior Leg And Anterior Hand Involvement	Respiratory insufficiency due to muscle weakness, Intrinsic hand muscle atrophy, Cardiomyopathy, ...	ORPHA:63273
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Polycystic ovaries	ORPHA:90301
Glutaric Aciduria Iii	Hypertension, Failure to thrive, Hyperthyroidism, Goiter	OMIM:231690
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H...	OMIM:620211
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Hepatomegaly, Right ventricular dilatation, Restrictive ventilatory defect, Myopathy, Limb-girdle...	ORPHA:369840
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Hypertension, Second degree atriovent...	OMIM:617021
Idiopathic Pulmonary Fibrosis	Crackles, Bronchiectasis, Abnormal pulmonary interstitial morphology, Honeycomb lung, Pulmonary f...	ORPHA:2032
Congenital Generalized Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Lipodystrophy, Precocious puberty in femal...	ORPHA:528
Cardiomyopathy, Familial Hypertrophic, 21	Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype...	OMIM:614676
Cardiomyopathy, Dilated, 1Nn	Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D...	OMIM:615916
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Pulmonary embolism, Splenomegaly, Stomatocytosis, Increased me...	OMIM:185000
Dent Disease	Renal insufficiency, Hyperphosphaturia, Proteinuria, Elevated circulating creatine kinase concent...	ORPHA:1652
Hemoglobin H Disease	Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin...	OMIM:610021
Cardiac Lipidosis, Familial	Congestive heart failure, Cardiomyopathy	OMIM:212080
Mitochondrial Complex I Deficiency, Nuclear Type 35	Cardiomyopathy, Neonatal respiratory distress, Pulmonary arterial hypertension	OMIM:619003
D-2-Hydroxyglutaric Aciduria 2	Cardiomyopathy	OMIM:613657
Pendred Syndrome	Compensated hypothyroidism, Thyroid carcinoma, Goiter	OMIM:274600
Cardiomyopathy, Dilated, 1E	Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio...	OMIM:601154
Familial Dyskinesia And Facial Myokymia	Congestive heart failure, Dilated cardiomyopathy, Limb hypertonia, Facial myokymia	ORPHA:324588
Lipodystrophy, Congenital Generalized, Type 4	Osteopenia, Elevated circulating creatine kinase concentration, Flexion contracture, Hepatomegaly...	OMIM:613327
Pparg-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Calf muscle pseudohypertrophy, Hypert...	ORPHA:79083
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:300946
Premature Ovarian Failure 7	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor...	OMIM:612964
Body Mass Index Quantitative Trait Locus 19	Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased se...	OMIM:617885
Hyperinsulinemic Hypoglycemia, Familial, 5	Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy...	OMIM:609968
Cardiomyopathy, Familial Hypertrophic, 8	Cardiac arrest, Sudden cardiac death, Left atrial enlargement, Congestive heart failure, T-wave i...	OMIM:608751
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu...	OMIM:603902
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Myocardial infarction, Hyperlipidemia, Elevated circula...	OMIM:144250
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Elevated hepatic transaminase, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Hypert...	OMIM:615381
Cardiomyopathy, Dilated, 1S	Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D...	OMIM:613426
Galactokinase Deficiency	Hepatomegaly, Abnormal circulating enzyme concentration or activity, Hypoglycemia, Hypergonadotro...	ORPHA:79237
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f...	OMIM:604400
Hemangioma-Thrombocytopenia Syndrome	Ventricular arrhythmia, Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:141000
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Hyperphosphaturia, Increased circulating beta-C-terminal telopeptide concentration, Hypercalciuri...	ORPHA:157215
Uruguay Faciocardiomusculoskeletal Syndrome	Congenital hip dislocation, Elevated circulating creatine kinase concentration, Limited elbow mov...	OMIM:300280
Diabetes Mellitus, Transient Neonatal, 1	Severe failure to thrive, Transient neonatal diabetes mellitus, Hyperglycemia	OMIM:601410
Functioning Gonadotropic Adenoma	Macroorchidism, postpubertal, Decreased female libido, Decreased response to growth hormone stimu...	ORPHA:91348
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri...	OMIM:610193
Hyperinsulinemic Hypoglycemia, Familial, 3	Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:602485
Chronic Thromboembolic Pulmonary Hypertension	Reduced vital capacity, Cardiac shunt, Right ventricular failure, Pulmonary embolism, Increased p...	ORPHA:70591
Car T Cell Therapy-Associated Cytokine Release Syndrome	Tachycardia, Heart block, Tachypnea, Capillary leak, Hypoxemia, Respiratory failure, Reduced left...	ORPHA:542323
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Cardiomyopathy, Familial Hypertrophic, 28	Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Myocardial late gadolinium en...	OMIM:619402
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no...	OMIM:604169
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia	OMIM:618849
Maturity-Onset Diabetes Of The Young, Type 10	Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young	OMIM:613370
Nephronophthisis 16	Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi...	OMIM:615382
Takayasu Arteritis	Myocardial infarction, Anorexia, Arthralgia, Fatigue, Vasculitis, Ascending tubular aorta aneurys...	ORPHA:3287
Premature Ovarian Failure 18	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr...	OMIM:619203
Cardiomyopathy, Familial Hypertrophic, 7	Wolff-Parkinson-White syndrome, Ventricular hypertrophy, Atrial fibrillation, Hypertrophic cardio...	OMIM:613690
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p...	ORPHA:3282
Adams-Oliver Syndrome 5	Splenomegaly, Right atrial enlargement, Pulmonic stenosis, Pulmonary arterial hypertension, Paten...	OMIM:616028
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Cryptorchidism, Dilated cardiomyopathy, Flexion contracture, Bradycardia, Hypertrophic cardiomyop...	OMIM:618815
Rhabdomyosarcoma, Embryonal, 2	Ovarian thecoma, Thyroid nodule, Multinodular goiter, Goiter	OMIM:180295
Lipodystrophy, Partial, Acquired, Susceptibility To	Polycystic ovaries	OMIM:608709
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia	OMIM:611938
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies	Sudden cardiac death, Dyspnea, Left ventricular outflow tract obstruction, Reduced left ventricul...	OMIM:620236
Cardiomyopathy, Familial Hypertrophic, 16	Orthopnea, Atrial fibrillation, Sudden cardiac death, Dyspnea, Ventricular tachycardia, Left bund...	OMIM:613838
Myopathy, Distal, 4	Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the...	OMIM:614065
Hypophosphatemic Rickets, X-Linked Recessive	Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Hypophosphatemia, N...	OMIM:300554
Cardiomyopathy, Familial Hypertrophic, 18	Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Atrial...	OMIM:613874
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome	Episodic hypokalemia, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, Renal potassium ...	ORPHA:564178
Hyperinsulinemic Hypoglycemia, Familial, 6	Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Asymptomatic hyperammonemia, Hy...	OMIM:606762
Homozygous 11P15-P14 Deletion Syndrome	Failure to thrive, Hyperinsulinemia, Hypoglycemia, Generalized aminoaciduria	OMIM:606528
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Cryptorchidism, Secondary amenorrhea, Polycystic ovaries, Decreas...	ORPHA:3085
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4	Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,...	OMIM:614916
Fanconi-Bickel Syndrome	Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Diabetes mellitus, Elevated circulating as...	ORPHA:2088
Primary Fanconi Renotubular Syndrome	Hypouricemia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wa...	ORPHA:3337
Congenital Disorder Of Glycosylation, Type Iic	Neutrophilia, Short stature, Pneumonia, Widow's peak, Short foot, Reduction of neutrophil motilit...	OMIM:266265
Familial Partial Lipodystrophy, Dunnigan Type	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Hypertriglyceridem...	ORPHA:2348
Congenital Fibrinogen Deficiency	Decreased testicular size, Tachycardia, Cyanosis, Left ventricular hypertrophy, Internal hemorrha...	ORPHA:335
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy	Dilated cardiomyopathy	OMIM:619688
Cirrhotic Cardiomyopathy	Prolonged QT interval, Elevated jugular venous pressure, Left ventricular diastolic dysfunction, ...	ORPHA:57777
Laing Early-Onset Distal Myopathy	Toe extensor amyotrophy, Dilated cardiomyopathy, Abnormality of the calf musculature, Proximal mu...	ORPHA:59135
Congenital Myopathy 2A, Typical, Autosomal Dominant	Facial palsy, Respiratory insufficiency due to muscle weakness, Dilated cardiomyopathy, Limb musc...	OMIM:161800
Alg9-Cdg	Abnormal lung lobation, Right ventricular dilatation, Narrow greater sciatic notch, Abnormal left...	ORPHA:79328
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Hypercalciuria, Micropenis, Hypospadias, Hypercalcemia	OMIM:614732
Melorheostosis With Osteopoikilosis	Osteopoikilosis, Multiple lipomas, Complete duplication of the distal phalanges of the hand, Hype...	ORPHA:1879
Asbestos Intoxication	Reduced forced vital capacity, Nonproductive cough, Decreased DLCO, Oxygen desaturation on exerti...	ORPHA:2302
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Decreased thyroid-stimulating hormone level, Tachycardia, Increased circulating free T4 concentra...	OMIM:613239
Familial Supernumerary Nipples	Supernumerary nipple	ORPHA:2456
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Splenomegaly, Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitia...	OMIM:612387
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Elevated circulating creatine kinase concentration, Facial palsy, Cryptorchidism, Flexion contrac...	OMIM:613156
Hypodontia-Dysplasia Of Nails Syndrome	Polycystic ovaries	ORPHA:2228
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Coenzyme Q10 Deficiency, Primary, 8	Respiratory distress, Small for gestational age, Postnatal growth retardation, Flexion contractur...	OMIM:616733
Mody	Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli...	ORPHA:552
Acute Peripheral Arterial Occlusion	Myocardial infarction, Abnormal capillary physiology, Leukocytosis, Absent ankle pulse, Supravent...	ORPHA:90064
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ...	OMIM:619051
Total Anomalous Pulmonary Venous Return 1	Pulmonary arterial hypertension, Total anomalous pulmonary venous return, Dextrocardia	OMIM:106700
Distal Myopathy, Welander Type	Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Cardiomyopathy, Myopathy...	ORPHA:603
Cardiomyopathy, Familial Hypertrophic, 1	Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy	OMIM:192600
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc...	OMIM:613251
Perrault Syndrome 2	Streak ovary, Amenorrhea	OMIM:614926
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Ventricular tachycardia, Respiratory arrest	OMIM:600649
Cardiomyopathy, Familial Hypertrophic, 12	Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr...	OMIM:612124
Linear Skin Defects With Multiple Congenital Anomalies 2	Ventricular hypertrophy, Congenital diaphragmatic hernia, Atrial septal defect, Pulmonary arteria...	OMIM:300887
Craniofaciofrontodigital Syndrome	Osteopenia, Respiratory distress, Bicuspid aortic valve, Large for gestational age, Cardiomegaly,...	ORPHA:363705
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Back pain, Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased ...	ORPHA:98855
Emery-Dreifuss Muscular Dystrophy	Back pain, Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased ...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Back pain, Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased ...	ORPHA:98853
Diabetes Mellitus, Permanent Neonatal, 2	Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia, Flexion contracture	OMIM:618856
Maturity-Onset Diabetes Of The Young, Type 3	Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:600496
Progressive Non-Fluent Aphasia	Abnormal lower motor neuron morphology, Neurofibrillary tangles, Temporal cortical atrophy, Astro...	ORPHA:100070
Pulmonary Venoocclusive Disease 1, Autosomal Dominant	Pulmonary arterial hypertension, Elevated jugular venous pressure, Abnormally loud pulmonic compo...	OMIM:265450
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 3	Reduced forced expiratory volume in one second, Reduced forced vital capacity, Pulmonary fibrosis...	OMIM:616373
Cardiomyopathy, Dilated, 2E	Ebstein anomaly of the tricuspid valve, Dilated cardiomyopathy, Reduced systolic function	OMIM:619492
Acquired Partial Lipodystrophy	Lipoatrophy, Insulin resistance, Hepatic steatosis, Myopathy	ORPHA:79087
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia...	ORPHA:276608
Essential Fructosuria	Abnormal erythrocyte enzyme level, Abnormal circulating enzyme concentration or activity, Hypergl...	ORPHA:2056
Obesity And Hypopigmentation	Hepatic steatosis, Hyperinsulinemia, Polyphagia, Obesity	OMIM:620195
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia	ORPHA:46532
Diabetes Mellitus, Ketosis-Prone	Beta-cell dysfunction, Insulin resistance, Diabetes mellitus	OMIM:612227
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio...	OMIM:611528
Hyperinsulinemic Hypoglycemia, Familial, 4	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:609975
Neutral Lipid Storage Disease With Myopathy	Exercise intolerance, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Elevated circulating...	OMIM:610717
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Apnea, Prolonged QRS complex, Left axis deviation, Pericardial effusion, Co...	OMIM:261740
Hyperaldosteronism, Familial, Type Iii	Hypercalciuria, Hypokalemia, Polyuria, Decreased circulating renin level	OMIM:613677
Coronary Artery Disease, Autosomal Dominant 2	Hypertriglyceridemia, Myocardial infarction, Sudden cardiac death, Osteoporosis, Gout, Increased ...	OMIM:610947
Acute Interstitial Pneumonia	Nodular pattern on pulmonary HRCT, Crackles, Nonproductive cough, Tachypnea, Arthralgia, Decrease...	ORPHA:79126
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 4	Reduced forced expiratory volume in one second, Reduced forced vital capacity, Honeycomb lung, Pu...	OMIM:616371
Myofibrillar Myopathy 10	Sandal gap, Elevated circulating creatine kinase concentration, Ankle flexion contracture, Elbow ...	OMIM:619040
Estrogen Resistance	Hypoplasia of the uterus, Breast aplasia, Primary amenorrhea, Polycystic ovaries	OMIM:615363
Timothy Syndrome	Prolonged QT interval, Ventricular septal defect, Pneumonia, Cardiomegaly, Ventricular tachycardi...	OMIM:601005
X-Linked Emery-Dreifuss Muscular Dystrophy	Back pain, Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased ...	ORPHA:98863
Familial Adenomatous Polyposis 4	Ovarian cyst, Uterine leiomyoma, Renal cyst	OMIM:617100
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration	OMIM:603813
Congenital Myopathy 4A, Autosomal Dominant	Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle fibers, Reduced forced ...	OMIM:255310
Gne Myopathy	Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc...	ORPHA:602
Stuve-Wiedemann Syndrome 2	Respiratory distress, Bowing of the long bones, Eczema, Congestive heart failure, Dysphagia, Shor...	OMIM:619751
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperlipidemia, Proximal amyotrophy, Mildly elevated creatine kinase, Hyperglycemia	OMIM:604484
Cardiomyopathy, Dilated, 1A	Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P...	OMIM:115200
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly	OMIM:619064
Infantile Sialic Acid Storage Disease	Osteopenia, Hepatomegaly, Failure to thrive, Cardiomegaly, Conjugated hyperbilirubinemia, Splenom...	OMIM:269920
Niemann-Pick Disease, Type B	Decreased HDL cholesterol concentration, Recurrent respiratory infections, Hypertriglyceridemia, ...	OMIM:607616
Polymyositis	Fatigue, Hepatomegaly, Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular condu...	ORPHA:732
Pulmonary Venoocclusive Disease 2, Autosomal Recessive	Dyspnea, Pulmonary arterial hypertension, Decreased DLCO, Cough	OMIM:234810
Catecholaminergic Polymorphic Ventricular Tachycardia	Syncope, Ventricular tachycardia, Sudden cardiac death	ORPHA:3286
Diamond-Blackfan Anemia 6	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Mitral regurgi...	OMIM:612561
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Glucose intolerance, Hyperglycemia, Hypergonadotropic hypogonadism, Male hypogonadism	OMIM:307500
Sengers Syndrome	Osteopenia, Fatigue, Exercise intolerance, Cardiac arrest, Sudden cardiac death, Respiratory insu...	OMIM:212350
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Elevated hepatic transaminase, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyp...	ORPHA:2089
Focal Cortical Dysplasia, Type Ii	Astrocytosis	OMIM:607341
Left Ventricular Noncompaction 7	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy	OMIM:615092
Premature Ovarian Failure 9	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th...	OMIM:615724
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Tachycardia, Hyperthyroidism, Weight loss, Palpitations, Goiter	OMIM:188580
Muscular Dystrophy, Duchenne Type	Abnormal EKG, Hypoventilation, Calf muscle pseudohypertrophy, Respiratory insufficiency due to mu...	OMIM:310200
Myopathy, Centronuclear, 5	Hip contracture, Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Respiratory ...	OMIM:615959
Type 1 Diabetes Mellitus	Polydipsia, Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum, Hyperglycemia, Po...	OMIM:222100
Obesity Due To Sim1 Deficiency	Hyperinsulinemia, Obesity, Glucose intolerance, Attention deficit hyperactivity disorder, Increas...	ORPHA:369873
Myopathy, Autophagic Vacuolar, Infantile-Onset	Myopathy, Hypertrophic cardiomyopathy, Autophagic vacuoles	OMIM:609500
Distal Myopathy, Tateyama Type	Hypercholesterolemia, Abnormal circulating creatine kinase concentration, Palpitations	ORPHA:488650
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypercalcemia, Parathormone-independent increased renal tubular calcium reabsorption, Hypermagnes...	OMIM:145981
Cardiomyopathy Associated With Myopathy And Sudden Death	Myopathy, Asymmetric septal hypertrophy	OMIM:212130
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial f...	ORPHA:1677
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Anisocytosis, Conjugated hyperbilirubinemia, Splenomegaly, Increased circulating ferritin concent...	OMIM:616860
Lethal Congenital Contracture Syndrome 2	Skeletal muscle atrophy, Ventricular septal defect, Dilated cardiomyopathy, Respiratory failure, ...	OMIM:607598
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Ragged-red muscle fibers, Flexion contracture, Dilated cardiomyopathy, Left ventricular noncompac...	OMIM:252011
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d...	ORPHA:66628
Werner Syndrome	Skeletal muscle atrophy, Myocardial infarction, Abnormal hair whorl, Squamous cell carcinoma, Pre...	ORPHA:902
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a...	ORPHA:300751
Atrial Standstill	Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa...	ORPHA:1344
Congenital Factor Vii Deficiency	Ovarian cyst, Menorrhagia	ORPHA:327
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal hemoglobin, Anemia	ORPHA:3319
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,...	OMIM:602088
Danon Disease	Wolff-Parkinson-White syndrome, Myocardial necrosis, Cardiomegaly, Congestive heart failure, Dila...	OMIM:300257
Long Qt Syndrome 3	Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ...	OMIM:603830
Bartter Syndrome, Type 3	Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,...	OMIM:607364
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Cardiomyopathy, Hepatomegaly	OMIM:609016
Vesicoureteral Reflux 2	Vesicoureteral reflux, Renal hypoplasia	OMIM:610878
Donohue Syndrome	Skeletal muscle atrophy, Precocious puberty, Adipose tissue loss, Hyperinsulinemia, Cholestasis, ...	OMIM:246200
Cardiomyopathy, Familial Hypertrophic, 10	Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert...	OMIM:608758
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Respiratory distress, Elevated circulating creatine kinase concentration, Abdominal pain, Central...	ORPHA:86812
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Long Qt Syndrome 13	Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri...	OMIM:613485
Pulmonary Arteriovenous Malformation	Cyanosis, Transient ischemic attack, Epistaxis, Myocardial infarction, Cough, Dyspnea, Heart murm...	ORPHA:2038
Brugada Syndrome 1	Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso...	OMIM:601144
Atrial Fibrillation, Familial, 15	Supraventricular tachycardia, Atrial flutter, Atrial fibrillation, Sudden cardiac death	OMIM:615770
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d...	ORPHA:179494
Anemia, Hypochromic Microcytic, With Iron Overload 2	Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Decr...	OMIM:615234
Cystic Hamartoma Of Lung And Kidney	Recurrent respiratory infections, Hypertension, Pulmonary fibrosis, Respiratory insufficiency	ORPHA:2111
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Ventricular hypertrophy, Hepatomegaly, Apnea, Congestive heart failure, Decreased plasma free car...	OMIM:619048
Schimke Immunoosseous Dysplasia	Osteopenia, Bilateral cryptorchidism, Elevated circulating thyroid-stimulating hormone concentrat...	OMIM:242900
Cardiomyopathy, Dilated, 1Y	Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact...	OMIM:611878
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Anorexia, Abnormal femur morphology, Atrioventr...	ORPHA:324
Fanconi-Bickel Syndrome	Hepatomegaly, Hyperphosphaturia, Ketonuria, Hypouricemia, Proteinuria, Hypercalciuria, Generalize...	OMIM:227810
Chronic Beryllium Disease	Fatigue, Lymphocytic interstitial pneumonia, Hypersensitivity pneumonitis, Dyspnea, Abnormality o...	ORPHA:133
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Tachycardia, Splenomegaly, Congestive heart failure, Increased total...	ORPHA:90037
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Large for gestational age, Abnormal circulating fatt...	ORPHA:263455
Tako-Tsubo Cardiomyopathy	Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Bradycardia, Hypotensi...	ORPHA:66529
Ovarian Hyperstimulation Syndrome	Pulmonary edema, Hypovolemia, Capillary leak, Peripheral edema, Pleural effusion, Ascites, Genera...	ORPHA:64739
Graves Disease, Susceptibility To, 1	Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Congest...	OMIM:275000
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut...	ORPHA:2457
Myopathy, Distal, 7, Adult-Onset, X-Linked	Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi...	OMIM:301075
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hepatomegaly, Hyperphosphaturia, Polyuria, Hypercalcemia, Splenomegaly, Hypercalciuri...	OMIM:239200
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus,...	OMIM:262190
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Renal phosphate wasting, Hyperphosphaturia, Nephrolithiasis, Hypophosphatemia	OMIM:612287
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct	Goiter	OMIM:600791
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
3-Methylglutaconic Aciduria, Type V	Prolonged QT interval, Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failu...	OMIM:610198
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Fatigue, Exercise intolerance, Skeletal muscle atrophy, Elevated circulating creatine kinase conc...	OMIM:615418
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea	OMIM:277000
Chromosome 6Q24-Q25 Deletion Syndrome	Persistent fetal circulation, Respiratory distress, Tricuspid regurgitation, Dysplastic tricuspid...	OMIM:612863
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Calf muscle pseudohypertrophy, Insulin re...	ORPHA:79086
Mitochondrial Dna Depletion Syndrome 11	Facial palsy, Dyspnea, Ragged-red muscle fibers, Dilated cardiomyopathy, Respiratory insufficienc...	OMIM:615084
H Syndrome	Microcytic anemia, Hernia, Alopecia, Psoriasiform dermatitis, Short stature, Recurrent pharyngiti...	ORPHA:168569
Ventricular Fibrillation, Paroxysmal Familial, 1	Tachycardia, Syncope, Ventricular fibrillation	OMIM:603829
Nestor-Guillermo Progeria Syndrome	Limited elbow movement, Flexion contracture, Rib osteolysis, Atherosclerosis, Alopecia, Short sta...	OMIM:614008
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Hype...	ORPHA:1345
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Testicular Regression Syndrome	Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male...	ORPHA:983
46,Xy Sex Reversal 11	Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Primary amenorrhea, ...	OMIM:273250
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Hypergonadotropic hypogonadism, Secondary amenorrhea, Polycystic ovaries	OMIM:268020
Schimke Immuno-Osseous Dysplasia	Impaired T cell function, Neutropenia, Intrauterine growth retardation, Short stature, Minimal ch...	ORPHA:1830
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Methylmalonic acidemia, Hypomethioninemia, Inguinal hernia, Cryptorchidism, Tachypnea, Hyperhomoc...	OMIM:614857
Hepatic Lipase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration, Angina pectoris	OMIM:614025
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Decreased muscle mass, Hypogonadotropic hypo...	ORPHA:465508
Long Qt Syndrome 15	Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard...	OMIM:616249
Hypothyroidism, Congenital, Nongoitrous, 5	Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo...	OMIM:225250
Insulin-Resistance Syndrome Type B	Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Hypoalbuminemia, Fasting hy...	ORPHA:2298
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Increased circulating interleukin 6 concentration, Skele...	OMIM:256040
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Iliac crest serration, Small for gestational age, Short stature, Cardiomegaly, Wide distal femora...	OMIM:613320
Muscular Dystrophy, Congenital, Megaconial Type	Facial palsy, Mitochondrial hypertrophy, Dilated cardiomyopathy, Myopathy, Muscular dystrophy, In...	OMIM:602541
Distal Nebulin Myopathy	Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m...	ORPHA:399103
Ventricular Tachycardia, Familial	Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death	OMIM:192605
Cortisone Reductase Deficiency 2	Insulin resistance, Obesity, Premature pubarche	OMIM:614662
Fixed Subaortic Stenosis	Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri...	ORPHA:3092
Congenital Anomalies Of Kidney And Urinary Tract 3	Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr...	OMIM:618270
Congenital Heart Defects, Multiple Types, 3	Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric...	OMIM:614954
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Dyspnea, Congestive heart failure, Dilated cardiomyopathy, Ragged-red muscle fibers, Hypertension...	ORPHA:1349
Alpha-1-Antitrypsin Deficiency	Elevated hepatic transaminase, Hepatocellular carcinoma, Cough, Splenomegaly, Panacinar emphysema...	OMIM:613490
Hyperinsulinism-Hyperammonemia Syndrome	Reactive hypoglycemia, Fasting hyperinsulinemia, Asymptomatic hyperammonemia, Attention deficit h...	ORPHA:35878
Aa Amyloidosis	Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome,...	ORPHA:85445
Hypergonadotropic Hypogonadism And Partial Alopecia	Streak ovary, Hypergonadotropic hypogonadism	OMIM:241090
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Secundum atrial septal defect, Sepsis, Leukopenia, Hypoplasia of the thymus, Otitis media, Neutro...	OMIM:612541
Hypoglycemia, Leucine-Induced	Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:240800
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Decreased mitochondrial number, Respiratory insufficiency due to muscle weakness, Dyspnea, Dilate...	ORPHA:352447
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Congestive heart failure, Dilated cardiomyopathy, Facial myokymia, Limb hypertonia	OMIM:606703
Mucolipidosis Type Ii	Dry hair, White hair, Knee flexion contracture, Abnormal long bone morphology, Otitis media, Pate...	ORPHA:576
Atypical Werner Syndrome	Sclerosis of hand bone, Skeletal muscle atrophy, Abnormal hair whorl, Fasting hyperinsulinemia, R...	ORPHA:79474
Hepatorenocardiac Degenerative Fibrosis	Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced ...	OMIM:619902
Acquired Methemoglobinemia	Tachycardia, Syncope, Palpitations, Arrhythmia, Methemoglobinemia	ORPHA:464453
Ovarian Dysgenesis 3	Female infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated ...	OMIM:614324
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Neuronal loss in central nervous system, Cerebral cortical atrophy, Astrocytosis	OMIM:600795
Congenital Disorder Of Glycosylation, Type Iip	Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi...	OMIM:616829
Gonadoblastoma	Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Gonadal dysg...	ORPHA:206484
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Abnormal circulating protein concentration, Anemia of inadequate producti...	ORPHA:86839
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adip...	OMIM:248370
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Pancreatic Cancer, Susceptibility To, 5	Melanoma, Pancreatic adenocarcinoma	OMIM:618680
Ring Chromosome Y Syndrome	Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt...	ORPHA:261529
Mandibuloacral Dysplasia With Type B Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Hyperlipidemi...	OMIM:608612
Idiopathic Pulmonary Hemosiderosis	Fatigue, Hepatomegaly, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Crackles, ...	ORPHA:99931
Atrial Standstill 1	Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at...	OMIM:108770
Ovarian Dysgenesis 10	Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Pr...	OMIM:619834
Sporadic Creutzfeldt-Jakob Disease	Neuronal loss in central nervous system, Gliosis, Cerebral atrophy, Astrocytosis	ORPHA:204
Loeffler Endocarditis	Abnormal cardiomyocyte morphology, Endocardial fibrosis, Cough, Fatigue, Abnormal morphology of t...	ORPHA:75566
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Reduced forced vital capacity, Achilles tendon contracture, Dilated cardiomyopathy, Abnormal left...	OMIM:607155
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac...	OMIM:607450
Osteochondrosis Of The Metatarsal Bone	Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn...	ORPHA:564003
Insulinomatosis And Diabetes Mellitus	Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ...	OMIM:147630
Temple Syndrome	Hypertriglyceridemia, Small for gestational age, Short stature, Maturity-onset diabetes of the yo...	OMIM:616222
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Ventricular septal defect, Biventricular hypertrophy, Hypertension, Second degree atrioventricula...	OMIM:615474
Cholestasis, Progressive Familial Intrahepatic, 10	Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile acid concentra...	OMIM:619868
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Elevated circulating creatine kinase concentration, Cardiomegaly, Flexion c...	ORPHA:365
Gm1 Gangliosidosis	Arthralgia, Aspiration pneumonia, Infectious encephalitis, Generalized hirsutism, Short stature, ...	ORPHA:354
Systemic Sclerosis	Elevated circulating creatine kinase concentration, Flexion contracture, Intestinal bleeding, Art...	ORPHA:90291
Ovarian Dysgenesis 9	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh...	OMIM:619665
Late-Onset Distal Myopathy, Markesbery-Griggs Type	Proximal muscle weakness in upper limbs, Heart block, Limb-girdle muscle weakness, Weakness of lo...	ORPHA:98912
Muscular Dystrophy, Becker Type	Abnormal EKG, Calf muscle pseudohypertrophy, Cardiomyopathy, Muscular dystrophy, Arrhythmia	OMIM:300376
Mucopolysaccharidosis-Plus Syndrome	Respiratory distress, Synophrys, Flexion contracture, Low anterior hairline, Metaphyseal widening...	OMIM:617303
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Short stature, Elevated circulating creatine kinase concentration, Hip pain, Congestive heart fai...	ORPHA:52430
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Respiratory distress, Flexion contracture, Sepsis, Leukopenia, Hypoalbuminemia, Conjunctivitis, H...	ORPHA:505248
Pheochromocytoma/Paraganglioma Syndrome 6	Elevated circulating catecholamine level, Hypertension, Paraganglioma	OMIM:618464
Insulinoma	Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin...	ORPHA:97279
Cardiomyopathy, Familial Hypertrophic, 17	Atrial fibrillation, Angina pectoris, Dyspnea, Ventricular tachycardia, Myocardial fibrosis, Palp...	OMIM:613873
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Calcium nephrolithiasis, Abnormal circulating calcium concentration, Hypercalciuria, Renal tubula...	OMIM:241530
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement	Insulin resistance	OMIM:200170
Premature Ovarian Failure 8	Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Pr...	OMIM:615723
Absence Of The Pulmonary Artery	Recurrent respiratory infections, Orthopnea, Abnormal EKG, Atrial flutter, Tachycardia, Atrial fi...	ORPHA:980
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Supraventricular tachycardia, Cardiomyopathy, Elevated circulating creatine kinase concentration	OMIM:255100
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness	Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent...	OMIM:615441
Analbuminemia	Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypoalbu...	OMIM:616000
Premature Ovarian Failure 10	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh...	OMIM:612885
Mulibrey Nanism	Hepatomegaly, Short stature, Nephroblastoma, Cardiomegaly, Thickened cortex of long bones, Conges...	OMIM:253250
Idiopathic Neonatal Atrial Flutter	Abnormal EKG, Abnormal atrioventricular conduction, Abnormal left ventricular function, Reduced l...	ORPHA:45452
Rh Deficiency Syndrome	Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Tachycardia, Anisocytosis, Spherocytosis, H...	ORPHA:71275
Cantu Syndrome	Broad hallux, Bicuspid aortic valve, Curly eyelashes, Short hallux, Coxa valga, Large for gestati...	OMIM:239850
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Male infertility, Hypospadias, Precocious puberty in females, Elevated circulating...	ORPHA:90793
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Abnormal EKG, Scapular winging, Proximal muscle weakness in upper limbs, Cardiomegaly, Right bund...	ORPHA:268
Pulmonary Hemosiderosis	Recurrent intrapulmonary hemorrhage, Pulmonary fibrosis, Respiratory insufficiency	OMIM:178550
Methylcobalamin Deficiency Type Cble	Hypomethioninemia, Macrocytic anemia, Pancytopenia, Hyperhomocystinemia, Hypertension, Increased ...	ORPHA:2169
Gaucher Disease Type 1	Osteopenia, Anorexia, Osteoarthritis, Bone pain, Leukopenia, Hepatomegaly, Increased bone mineral...	ORPHA:77259
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:205400
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Elbow flexion contractu...	OMIM:616516
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Abnormal circulating acylcarnitine concentration, Acute hepatic failure, Elevated hepatic transam...	ORPHA:71212
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula...	ORPHA:730
Ovarian Dysgenesis 7	Hypoplasia of the uterus, Primary amenorrhea, Elevated circulating follicle stimulating hormone l...	OMIM:618117
Lymphoproliferative Syndrome, X-Linked, 2	Recurrent respiratory infections, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Acne, Recu...	OMIM:300635
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension...	ORPHA:1457
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia	OMIM:613839
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Abnormality of the ovary, Hypogonadism, Decreased testicular size	ORPHA:1875
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased...	OMIM:620085
Hypothyroidism, Congenital, Nongoitrous, 8	Hypercholesterolemia	OMIM:301033
Alstrom Syndrome	Decreased HDL cholesterol concentration, Chronic active hepatitis, Decreased response to growth h...	OMIM:203800
Preeclampsia	Polycystic ovaries	ORPHA:275555
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Osteopenia, Recurrent herpes, Medial calcification of large arteries, Oropharyngeal squamous cell...	ORPHA:391487
Jervell And Lange-Nielsen Syndrome	Iron deficiency anemia, Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricu...	ORPHA:90647
Specific Granule Deficiency 2	Osteopenia, Absent neutrophil specific granules, Brachydactyly, Sandal gap, Myelodysplasia, Throm...	OMIM:617475
Congenital Muscular Dystrophy, Fukuyama Type	Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Dilated cardiomyopathy, Flexion...	ORPHA:272
Distal Renal Tubular Acidosis	Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,...	ORPHA:18
19P13.3 Microduplication Syndrome	Hyperactivity, Unilateral cryptorchidism, Ventricular septal defect, Precocious puberty, Long fin...	ORPHA:447980
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Nonketotic hypoglycemia, Increased circulating free fatty acid level, Large for gestational age, ...	ORPHA:293964
Cardiomyopathy, Familial Hypertrophic, 11	Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi...	OMIM:612098
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Synaptic Congenital Myasthenic Syndromes	Respiratory distress, Hypoventilation, Neonatal respiratory distress, Skeletal muscle atrophy, Sc...	ORPHA:98915
Body Mass Index Quantitative Trait Locus 20	Hyperinsulinemia, Polyphagia, Obesity	OMIM:618406
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Myositis, Flexion contracture, Muscle fiber atrophy, Aspiration, Hypoventilation, Facial palsy, I...	ORPHA:258
Malonyl-Coa Decarboxylase Deficiency	Neonatal respiratory distress, Dilated cardiomyopathy, Left ventricular noncompaction cardiomyopathy	OMIM:248360
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Atelectasis, Right bundle branch block, Pulmonary fibrosis, Bronchiolitis, Increased circulating ...	ORPHA:254361
Hemochromatosis, Type 1	Hepatomegaly, Alopecia, Diabetes mellitus, Hypogonadotropic hypogonadism, Abdominal pain, Cardiom...	OMIM:235200
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Splenomegaly, Hepatomegaly, Enlarged kidney	OMIM:615285
Lipodystrophy, Congenital Generalized, Type 1	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Diabetes m...	OMIM:608594
Cocaine Intoxication	Respiratory distress, Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infar...	ORPHA:90068
Microcephaly-Capillary Malformation Syndrome	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Right ventricular hypertrophy	OMIM:614261
Premature Ovarian Failure 21	Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Elevated c...	OMIM:620311
Distal Deletion 10P	Cryptorchidism, Hypoplasia of penis, Polycystic ovaries	ORPHA:1580
Proteus Syndrome	Splenomegaly, Facial hyperostosis, Hyperkeratosis, Multiple lipomas, Calvarial hyperostosis, Hema...	OMIM:176920
Mogs-Cdg	Respiratory distress, Hypoventilation, Generalized edema, Apnea, Edema, Polyhydramnios, Hydrocele...	ORPHA:79330
Isolated Succinate-Coq Reductase Deficiency	Noncompaction cardiomyopathy, Skeletal muscle atrophy, Severe short stature, Abnormal atrioventri...	ORPHA:3208
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ...	OMIM:610921
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Hepatomegaly, Tricuspid regurgitation, Dilated cardiomyopathy, Mitral regurgitation, Left ventric...	OMIM:619167
46,Xy Sex Reversal 7	Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex...	OMIM:233420
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Cerebral hemorrhage, Dilated cardiomyopathy, Hypertension, Azoospermia, Ischemic stroke, Decrease...	ORPHA:280679
Mucolipidosis Ii Alpha/Beta	Osteopenia, Brittle hair, Increased serum beta-hexosaminidase, Cardiomegaly, Metaphyseal widening...	OMIM:252500
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre...	OMIM:609734
Hypophosphatasia, Infantile	Elevated urine pyrophosphate, Elevated plasma pyrophosphate, Hypercalcemia, Hypercalciuria, Nephr...	OMIM:241500
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu...	OMIM:613092
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abn...	ORPHA:1802
Mixed Connective Tissue Disease	Myositis, Leukopenia, Arthralgia, Meningitis, Fatigue, Hemolytic anemia, Alopecia, Hepatomegaly, ...	ORPHA:809
Coproporphyria, Hereditary	Splenomegaly, Tachycardia, Hypertension	OMIM:121300
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Multinodular goiter	ORPHA:2091
Antithrombin Iii Deficiency	Arterial occlusion, Pulmonary embolism	OMIM:613118
Rajab Interstitial Lung Disease With Brain Calcifications 2	Exercise intolerance, Decreased muscle mass, Hypertriglyceridemia, Arachnodactyly, Short stature,...	OMIM:619013
Inherited Creutzfeldt-Jakob Disease	Amyloidosis of peripheral nerves, Astrocytosis, Central nervous system degeneration, Senile plaqu...	ORPHA:282166
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Increased circulating free T4 concentration, Diabetes mellitus, Small for gestational age, Elevat...	OMIM:274300
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Dyspnea, Respiratory insufficiency, Cardiomyopathy, Global systolic dysfunction, Limb muscle weak...	OMIM:606842
Stuve-Wiedemann Syndrome 1	Apnea, Knee flexion contracture, Femoral bowing, Tibial bowing, Sparse hair, Short tibia, Short p...	OMIM:601559
17Q23.1Q23.2 Microdeletion Syndrome	Long toe, Atrial septal defect, Sandal gap, Short stature, Highly arched eyebrow, Long fingers, D...	ORPHA:261279
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Hypercalcemia, Parathormone-independent increased renal tubular calcium reab...	OMIM:600740
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Rhabdomyolysis, Dilated cardiomyopathy, Ankle flexion contracture	OMIM:618120
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Short stature, Rhizomelia, Cryptorchidism, Giant platelets, Squared iliac bones, Ulna...	OMIM:611209
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Elevated circulating lutei...	ORPHA:90796
Indomethacin Embryofetopathy	Atrial septal defect, Cardiomyopathy, Ventricular septal defect, Respiratory insufficiency	ORPHA:1909
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Hyperlipidemia, Por...	ORPHA:369
Interstitial Lung And Liver Disease	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Cough, Dyspnea, Elev...	OMIM:615486
Gaucher Disease	Osteopenia, Elevated circulating C-reactive protein concentration, Osteoarthritis, Bone pain, Art...	ORPHA:355
Wolff-Parkinson-White Syndrome	Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com...	OMIM:194200
Hjv Or Hamp-Related Hemochromatosis	Dilated cardiomyopathy	ORPHA:79230
Infection-Related Hemolytic Uremic Syndrome	Increased circulating interleukin 6 concentration, Hypocalcemia, Meningitis, Acute colitis, Hypon...	ORPHA:544482
Congenital Tracheomalacia	Apnea, Cardiomegaly, Tracheobronchomalacia, Cough, Atrial septal defect, Emphysema, Single ventri...	ORPHA:95430
Dk1-Cdg	Congestive heart failure, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Interstitial cardiac...	ORPHA:91131
Combined Oxidative Phosphorylation Deficiency 22	Congestive heart failure, Pulmonary arterial hypertension	OMIM:616045
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	Increased variability in muscle fiber diameter, Apnea, Type 1 muscle fiber predominance, Right ve...	OMIM:612949
Congenital Myopathy 8	Reduced vital capacity, Internally nucleated skeletal muscle fibers, Cardiomegaly, Congestive hea...	OMIM:618654
Noonan Syndrome 8	Curly hair, Left ventricular hypertrophy, Ventricular septal defect, Eczema, Large for gestationa...	OMIM:615355
Paroxysmal Extreme Pain Disorder	Tachycardia, Bradycardia	OMIM:167400
Sitosterolemia 1	Reticulocytosis, Hyperapobetalipoproteinemia, Thrombocytopenia, Splenomegaly, Giant platelets, El...	OMIM:210250
Allergic Bronchopulmonary Aspergillosis	Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmonary arterial hypertension, Emphysema	ORPHA:1164
Cln3 Disease	Acne, Aggressive behavior, Vacuolated lymphocytes, Increased circulating androgen concentration, ...	ORPHA:228346
Long Qt Syndrome 2	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613688
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Hypercalcemia, Renal salt wasting, ...	OMIM:601678
Vici Syndrome	Elevated circulating creatine kinase concentration, Albinism, Recurrent viral infections, Leukope...	OMIM:242840
Laryngotracheoesophageal Cleft	Recurrent respiratory infections, Neonatal respiratory distress, Dyspnea, Stridor, Cough, Aspiration	ORPHA:2004
Incontinentia Pigmenti	Abnormal hand morphology, Uveitis, Spina bifida occulta, Infectious encephalitis, Finger syndacty...	ORPHA:464
Cardiac-Valvular Ehlers-Danlos Syndrome	Calcaneovalgus deformity, Absent phalangeal crease, Hypermobility of distal interphalangeal joint...	ORPHA:230851
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Severe B lymphocytopenia, Cough, Atrial septal defect, Sparse hair, Intrauterine growth retardati...	OMIM:620005
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Osteopenia, Increased T cell count, Increased circulating IgG level, Inflammation of the large in...	ORPHA:98813
Selective Igm Deficiency	Fasciitis, Recurrent herpes, Non-Hodgkin lymphoma, Recurrent staphylococcal infections, Severe va...	ORPHA:331235
Mpi-Cdg	Hepatomegaly, Abnormal circulating enzyme concentration or activity, Portal hypertension, Hypoalb...	ORPHA:79319
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Hypertriglyceridemia, Splenomegaly, Bronchiectasis, Hodgkin lymphoma, Persistent EB...	OMIM:620282
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Diabetes mellitus, Dorsocervical fat pad, Delayed thelarche, Delayed puberty, Hyperinsulinemic hy...	OMIM:616033
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Dilated cardiomyopathy, Reduced systolic function	OMIM:618805
Limited Cutaneous Systemic Sclerosis	Telangiectasia of the skin, Foot joint contracture, Narrow foramen obturatorium, Pulmonary fibros...	ORPHA:220402
Sandhoff Disease	Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Congestive heart failure, Failure t...	ORPHA:796
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Cardiomyopathy	OMIM:619647
Sinoatrial Node Dysfunction And Deafness	Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia	OMIM:614896
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ...	OMIM:601214
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Wolff-Parkinson-White syndrome, Diabetes mellitus, Congestive heart failure, Ragged-red muscle fi...	OMIM:540000
Moyamoya Disease 1	Inflammatory arteriopathy, Telangiectasia	OMIM:252350
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia	OMIM:615863
Congenital Tricuspid Stenosis	Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Hypotension,...	ORPHA:95459
Fg Syndrome Type 1	Generalized joint laxity, Compulsive behaviors, Atrial septal defect, Finger syndactyly, Short st...	ORPHA:93932
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Hyperglycemia	OMIM:618970
Aicardi-Goutieres Syndrome 9	Hypoalbuminemia, Hypothyroidism, Self-mutilation, Hemolytic anemia, Hepatomegaly, Chilblains, Por...	OMIM:619487
Maturity-Onset Diabetes Of The Young, Type 13	Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet...	OMIM:616329
Lipodystrophy, Congenital Generalized, Type 2	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Lipodystro...	OMIM:269700
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H...	ORPHA:47159
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Elevated circulating C-reactive protein concentration, Squamous cell carcinoma, Prostate cancer, ...	ORPHA:158057
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Polyuria, Renal magnesium wasting, Nephrocalcinosis, Hypokalemia, Hypomagnesemia, Renal potassium...	OMIM:618314
Diabetes And Deafness, Maternally Inherited	Hyperglycemia, Type II diabetes mellitus	OMIM:520000
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect...	OMIM:610913
Familial Hypocalciuric Hypercalcemia	Hypomagnesiuria, Renal hypophosphatemia, Hypercalcemia, Parathormone-independent increased renal ...	ORPHA:405
Ovarian Dysgenesis 5	Hypoplasia of the uterus, Primary amenorrhea, Elevated circulating follicle stimulating hormone l...	OMIM:617690
Diabetes Mellitus, Permanent Neonatal, 4	Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosi...	OMIM:618858
Mucopolysaccharidosis, Type Vi	Metaphyseal widening, Flexion contracture, Arthralgia, Hypoplastic iliac wing, Hepatomegaly, Tric...	OMIM:253200
Cerebrooculofacioskeletal Syndrome 1	Failure to thrive, Small for gestational age, Rocker bottom foot, Progressive neurologic deterior...	OMIM:214150
Megabladder, Congenital	Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompa...	OMIM:618719
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Increased m...	OMIM:277410
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Elevated circulating growth hormone concentration, Large for gestational age, Abnormal response t...	ORPHA:79644
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Cardiomyopathy, Muscular dystrophy...	OMIM:608807
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Scapular winging, Centrally nucleated skeletal muscle fibers, Respiratory insufficiency, Proximal...	OMIM:612999
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Anemia	OMIM:613977
Osteosclerosis With Ichthyosis And Premature Ovarian Failure	Hypoplasia of the ovary, Premature ovarian insufficiency	OMIM:609993
Keutel Syndrome	Pulmonary arterial hypertension, Ventricular septal defect, Recurrent sinusitis	ORPHA:85202
Giant Axonal Neuropathy 2, Autosomal Dominant	Cardiomyopathy, Distal amyotrophy	OMIM:610100
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A...	ORPHA:2975
Immunodeficiency 32B	Recurrent respiratory infections, Hepatomegaly, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia,...	OMIM:226990
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Recurrent upper...	OMIM:613101
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Abnormal renal tubular resorption, Hypercalciuria, Hyperprostaglandinuria, Nephrocalcinosis, Hypo...	ORPHA:73224
Distal Myotilinopathy	Multiple joint contractures, Cardiomyopathy, Distal amyotrophy, EMG: myopathic abnormalities, Abn...	ORPHA:98911
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Crackles, Dyspnea, Decreased DLCO, Pulmonary fibrosis, Cirrhosis, Cough, Reticular pattern on pul...	OMIM:614742
Schwartz-Jampel Syndrome	Skeletal muscle atrophy, Apnea, Elevated circulating creatine kinase concentration, Micromelia, L...	ORPHA:800
Antisynthetase Syndrome	Aortic regurgitation, Recurrent respiratory infections, Myositis, Telangiectasia of the skin, Ele...	ORPHA:81
Tetrasomy 5P	Respiratory distress, Pericallosal lipoma, Recurrent respiratory infections, Cyanosis, Overlappin...	ORPHA:3309
Relapsing Fever	Tachycardia, Neutrophilia, Epistaxis, Elevated circulating C-reactive protein concentration, Leuk...	ORPHA:91547
Interstitial Nephritis, Karyomegalic	Elevated hepatic transaminase, Glycosuria, Elevated circulating creatinine concentration, Increas...	OMIM:614817
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Elevated circ...	OMIM:264700
Myopathy, X-Linked, With Postural Muscle Atrophy	Back pain, Skeletal muscle atrophy, Scapular winging, Elevated circulating creatine kinase concen...	OMIM:300696
Metatropic Dysplasia	Severe short stature, Camptodactyly of finger, Micromelia, Abnormal enchondral ossification, Join...	ORPHA:2635
Polyglucosan Body Myopathy 2	Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Elevated circu...	OMIM:616199
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Foam cells, Decreased ci...	OMIM:619802
Marshall-Smith Syndrome	Brittle hair, Large sternal ossification centers, Apnea, Bilateral cryptorchidism, Synophrys, Dis...	OMIM:602535
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight...	OMIM:615954
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Hepatomegaly, Arthrogryposis multiplex congenita, Ventricular septal defect, Right ventricular hy...	OMIM:613404
Autosomal Dominant Progressive External Ophthalmoplegia	Elevated circulating creatine kinase concentration, Quadriceps muscle weakness, Ragged-red muscle...	ORPHA:254892
Diabetes Mellitus, Permanent Neonatal, 1	Diabetes mellitus, Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, T...	OMIM:606176
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Hypertriglyceridemia, Skin rash, Failure to thrive in infancy, Splenomegaly	OMIM:619175
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Glycogen Storage Disease Ixa1	Splenomegaly, Hypertriglyceridemia, Hypercholesterolemia, Hyperuricemia	OMIM:306000
Behavioral Variant Of Frontotemporal Dementia	Frontotemporal cerebral atrophy, Astrocytosis	ORPHA:275864
Bartter Syndrome Type 4	Hyponatremia, Renal salt wasting, Increased urinary potassium, Impaired renal concentrating abili...	ORPHA:89938
Dermatomyositis	Abnormal eosinophil morphology, Myocardial infarction, Inflammatory myopathy, Arthralgia, Neoplas...	ORPHA:221
Melnick-Needles Syndrome	Omphalocele, Craniofacial hyperostosis, Bowing of the long bones, Recurrent respiratory infection...	ORPHA:2484
Chédiak-Higashi Syndrome	Recurrent staphylococcal infections, Large clumps of pigment irregularly distributed along hair s...	ORPHA:167
Long Qt Syndrome 6	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613693
Babesiosis	Fatigue, Hemolytic anemia, Hepatomegaly, Myocardial infarction, Anorexia, Splenomegaly, Thrombocy...	ORPHA:108
Combined Oxidative Phosphorylation Deficiency 30	Left ventricular hypertrophy, Hyperalaninemia, Failure to thrive, Respiratory distress	OMIM:616974
Perrault Syndrome 3	Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri...	OMIM:614129
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Increased bone mineral density, Short stature, Splenomegaly, Abnormal limb bone mor...	ORPHA:2204
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Congestive heart failure, Tachypn...	ORPHA:31826
Viss Syndrome	Chronic gastritis, Epidural hemorrhage, Generalized joint laxity, Right ventricular dilatation, I...	OMIM:619472
Familial Infantile Bilateral Striatal Necrosis	Basal ganglia gliosis, Atrophy/Degeneration involving the caudate nucleus, Astrocytosis	ORPHA:225154
Mitochondrial Complex I Deficiency, Nuclear Type 6	Skeletal muscle atrophy, Apnea, Respiratory insufficiency, Left ventricular hypertrophy, Hypertro...	OMIM:618228
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Failure to thrive, Steatorrhea, Hypoalbuminemia, Hepatic fibrosis, Cirrhosis, Hyper...	OMIM:602579
Scimitar Syndrome	Respiratory distress, Heart block, Hypoplasia of the diaphragm, Cough, Atrial septal defect, Sing...	ORPHA:185
Combined Oxidative Phosphorylation Deficiency 8	Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Pulmonary hyp...	OMIM:614096
Perlman Syndrome	Hepatomegaly, Inguinal hernia, Femoral hernia, Abnormal pancreas morphology, Hyperinsulinemia	ORPHA:2849
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Telangiectasia of the skin, Dilated cardiomyopathy, Cardiomyopathy, Mitral regurgitation, Finger ...	OMIM:212112
Kagami-Ogata Syndrome	Omphalocele, Hepatomegaly, Inguinal hernia, Ventricular septal defect, Diastasis recti, Coxa valg...	OMIM:608149
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Hepatomegaly, Dilated cardiomyopathy, Tachypnea, Respiratory insufficiency,...	OMIM:614299
Temple Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube...	ORPHA:254516
Oculoskeletodental Syndrome	Hepatomegaly, Renal agenesis, Hypercalcemia, Splenomegaly, Hypercalciuria, Mucopolysacchariduria,...	OMIM:618440
Smith-Magenis Syndrome	Hyperactivity, Hypertriglyceridemia, Short stature, Abnormality of the thyroid gland, Synophrys, ...	OMIM:182290
Combined Oxidative Phosphorylation Deficiency 54	Hyperglycemia, Hypergonadotropic hypogonadism, Lower limb muscle weakness, Obesity	OMIM:619737
Elliptocytosis 3	Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia	OMIM:617948
Meconium Aspiration Syndrome	Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Abnormal heart rate variability,...	ORPHA:70588
Variegate Porphyria	Tachycardia	OMIM:176200
Familial Papillary Or Follicular Thyroid Carcinoma	Nodular goiter, Papillary thyroid carcinoma, Follicular thyroid carcinoma, Goiter	ORPHA:319487
Ataxia-Telangiectasia	Abnormal testis morphology, Polycystic ovaries	ORPHA:100
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Lipodystrophy, Myositis, Sinusitis, Skin r...	OMIM:617591
Wild Type Abeta2M Amyloidosis	Gastrointestinal hemorrhage, Shoulder pain, Congestive heart failure, Neck pain, Bone cyst, Abnor...	ORPHA:85446
Hypotonia-Cystinuria Syndrome	Hypergonadotropic hypogonadism, Facial palsy, Decreased response to growth hormone stimulation te...	OMIM:606407
Hurler-Scheie Syndrome	Aortic regurgitation, Recurrent respiratory infections, Inguinal hernia, Hepatomegaly, Short stat...	OMIM:607015
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome	Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu...	OMIM:115000
Hyperthyroidism, Nonautoimmune	Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Small for gestational ...	OMIM:609152
Necrobiosis Lipoidica	Inflammatory abnormality of the skin, Diabetes mellitus, Telangiectasia of the skin, Abnormality ...	ORPHA:542592
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Osteopenia, Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Shoulder disloc...	OMIM:245600
Leptin Receptor Deficiency	Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati...	OMIM:614963
Diffuse Cutaneous Systemic Sclerosis	Telangiectasia of the skin, Congestive heart failure, Dyspnea, Flexion contracture, Osteolysis, A...	ORPHA:220393
Metaphyseal Chondrodysplasia, Jansen Type	Hyperphosphaturia, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Hypophosphatemia	OMIM:156400
Aspergillosis	Sinusitis, Pneumonia, Hypersensitivity pneumonitis, Ocular pain, Chronic pulmonary obstruction, D...	ORPHA:1163
Mandibuloacral Dysplasia Progeroid Syndrome	Osteopenia, Flexion contracture, Palmoplantar hyperkeratosis, Sparse hair, Patent foramen ovale, ...	OMIM:619127
Eiken Syndrome	Epiphyseal dysplasia, Abnormal trabecular bone morphology, Abnormal acetabulum morphology, Thin b...	ORPHA:79106
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Reduced vital capacity, Autophagic vacuoles, Elevated circulating creatine kinase concentration, ...	ORPHA:266
Hydatidiform Mole	Menometrorrhagia, Enlarged uterus	ORPHA:99927
Bangstad Syndrome	Abnormality of the parathyroid gland, Abnormal testis morphology, Polycystic ovaries	ORPHA:1227
Glycogen Storage Disease Iii	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c...	OMIM:232400
Congenital Alveolar Capillary Dysplasia	Respiratory distress, Bicuspid aortic valve, Ventricular septal defect, Pulmonary valve atresia, ...	ORPHA:210122
Gaucher Disease, Type I	Hepatomegaly, Epistaxis, Dyspnea, Splenomegaly, Hypertension, Mitral regurgitation, Pulmonary art...	OMIM:230800
Inclusion Body Myositis	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Abnormal muscle fibe...	ORPHA:611
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Increased sarcoplasm...	ORPHA:264580
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis...	OMIM:614480
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Elevated left ventricular end...	OMIM:620152
Bardet-Biedl Syndrome 9	Polydipsia, Obesity, Truncal obesity, Hyperglycemia, Polyphagia	OMIM:615986
Combined Oxidative Phosphorylation Deficiency 28	Increased serum pyruvate, Fatigue, Abdominal pain, Congestive heart failure, Ragged-red muscle fi...	OMIM:616794
Greig Cephalopolysyndactyly Syndrome	Inguinal hernia, Abnormal muscle fiber morphology, Camptodactyly of toe, Umbilical hernia, Hyperg...	OMIM:175700
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Wolff-Parkinson-White syndrome, Skeletal muscle atrophy, Proximal muscle weakness in upper limbs,...	OMIM:619566
Hereditary Myopathy With Early Respiratory Failure	Orthopnea, Reduced vital capacity, Skeletal muscle atrophy, Internally nucleated skeletal muscle ...	ORPHA:178464
Sclerosteosis	Finger syndactyly, Craniofacial hyperostosis, Increased bone mineral density, Facial palsy, 2-3 f...	ORPHA:3152
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Acute hepatic failure, Elevated hepatic transaminase, Hypoglycemia, Hyperammonemia, Hyperglycemia...	OMIM:615453
Mitochondrial Complex I Deficiency, Nuclear Type 11	Wolff-Parkinson-White syndrome, Hepatomegaly, Congestive heart failure, Osteoporosis, Myopathy, H...	OMIM:618234
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Hepatomegaly, Camptodactyly of finger, Abnormal pulmonary valve morphology, Cryptorchidism, Conge...	ORPHA:1194
Muscular Dystrophy, Cardiac Type	Abnormal EKG, Muscular dystrophy, Cardiomyopathy	OMIM:309930
Cardiomyopathy, Familial Hypertrophic, 13	Atrial fibrillation, Angina pectoris, Dyspnea, Concentric hypertrophic cardiomyopathy, Right bund...	OMIM:613243
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Recurrent fractures, Bowing of th...	OMIM:600081
Immunodeficiency 51	Recurrent respiratory infections, Recurrent skin infections, Pneumonia, Eczema, Pustule, Recurren...	OMIM:613953
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu...	OMIM:240900
Mitochondrial Myopathy With Diabetes	Exercise intolerance, Facial palsy, Elevated circulating creatine kinase concentration, Ragged-re...	OMIM:500002
Thrombophilia Due To Thrombomodulin Defect	Pulmonary embolism	OMIM:614486
Tibial Muscular Dystrophy	Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ...	ORPHA:609
Congenital Muscular Dystrophy Due To Lmna Mutation	Skeletal muscle atrophy, Cachexia, Congestive heart failure, Flexion contracture, Limitation of j...	ORPHA:157973
Laubry-Pezzi Syndrome	Aortic regurgitation, Aortic valve prolapse, Mildly reduced left ventricular ejection fraction, B...	ORPHA:99094
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Tachycardia, Megaloblastic anemia, Anisopoikilo...	ORPHA:35858
Beta-Ketothiolase Deficiency	Hepatomegaly, Hypoglycemia, Anorexia, Hyperammonemia, Weight loss, Agitation, Hyperuricemia, Oral...	ORPHA:134
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Intracranial hemorrhage, Hypertens...	ORPHA:369929
Retinitis Pigmentosa	Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II diabetes mellitus	ORPHA:791
Brain-Lung-Thyroid Syndrome	Thyroid dysgenesis, Respiratory distress, Elevated circulating thyroid-stimulating hormone concen...	ORPHA:209905
Vitamin D-Dependent Rickets, Type 2A	Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Elevated circ...	OMIM:277440
Congenital Disorder Of Glycosylation, Type It	Elevated circulating creatine kinase concentration, Cardiomegaly, Fatigue, Hepatomegaly, Short st...	OMIM:614921
Heparin-Induced Thrombocytopenia	Cerebral ischemia, Myocardial infarction, Pulmonary embolism	ORPHA:3325
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Internally nucleated skeletal muscle fibers, Elevated circulating creatine kinase concentration, ...	ORPHA:206549
Lymphedema And Cerebral Arteriovenous Anomaly	Pulmonary arterial hypertension	OMIM:152900
Bronchial Neuroendocrine Tumor	Hepatomegaly, Tricuspid regurgitation, Pneumonia, Right ventricular failure, Nonproductive cough,...	ORPHA:97287
Ogden Syndrome	Congenital hip dislocation, Bicuspid aortic valve, Apnea, Maternal diabetes, Cardiomegaly, Secund...	OMIM:300855
Ciliary Dyskinesia, Primary, 20	Atrial situs inversus, Ventricular septal defect, Dextrocardia, Productive cough, Situs inversus ...	OMIM:615067
Sarcoidosis, Susceptibility To, 1	Anorexia, Uveitis, Inflammation of the large intestine, Cough, Emphysema, Abnormal salivary gland...	OMIM:181000
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Respiratory distress, Hepatomegaly, Skeletal muscle atrophy, Portal hypertension, Congestive hear...	ORPHA:367
Cardiomyopathy, Familial Hypertrophic, 2	Atrial fibrillation, Angina pectoris, Dyspnea, Ventricular septal hypertrophy, Right bundle branc...	OMIM:115195
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Glycosylphosphatidylinositol Biosynthesis Defect 17	Hypertriglyceridemia, Aggressive behavior, Growth delay, Clinodactyly of the 5th finger, Clinodac...	OMIM:618010
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Facial palsy, Generalized osteosclerosis, Clavicular sclerosis, Abnorm...	ORPHA:2790
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Lipodystrophy, Skin rash, Elevated circulating C-reactive protein concen...	OMIM:618048
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress, Cyanosis, Low-output congestive heart failure, Myopathy, Hypertrophic cardi...	ORPHA:91130
Hereditary Sensory And Autonomic Neuropathy Type 2	Skeletal muscle atrophy, Tapered finger, Osteolysis, Foot acroosteolysis, Reduced bone mineral de...	ORPHA:970
Congenital Disorder Of Glycosylation, Type Iio	Decreased circulating ceruloplasmin concentration, Elevated circulating creatine kinase concentra...	OMIM:616828
Meckel Syndrome, Type 7	Portal hypertension, Situs inversus totalis, Hepatosplenomegaly, Atrial septal defect, Aortic val...	OMIM:267010
Developmental And Epileptic Encephalopathy 109	Hyperactivity, Dyspnea, Left ventricular hypertrophy, Intrauterine growth retardation, Failure to...	OMIM:620145
Seckel Syndrome 10	Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Elevated hemoglobin A1c, Elevated ci...	OMIM:617253
Acquired Aneurysmal Subarachnoid Hemorrhage	Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Leukocytosis, Prolonged QTc...	ORPHA:90065
Atrial Fibrillation, Familial, 18	Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio...	OMIM:617280
Hyperostosis Corticalis Generalisata	Facial palsy, Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone morphology...	ORPHA:3416
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve...	OMIM:609040
Familial Hyperaldosteronism Type Iii	Left ventricular hypertrophy, Hypokalemia, Hypercalciuria	ORPHA:251274
Jervell And Lange-Nielsen Syndrome 1	Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval	OMIM:220400
Cholesteryl Ester Storage Disease	Splenomegaly, Hypertriglyceridemia, Hypercholesterolemia	ORPHA:75234
Caffey Disease	Respiratory insufficiency, Periosteal thickening of long tubular bones, Cortical thickening of lo...	ORPHA:1310
Carey-Fineman-Ziter Syndrome 1	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Hypoplasia of the mu...	OMIM:254940
Tumor Predisposition Syndrome 2	Acute myeloid leukemia, Schwannoma, Uveal melanoma, Juvenile type ovarian granulosa cell tumor, D...	OMIM:619975
Ck Syndrome	Hyperactivity, Slender build, Aggressive behavior, Abnormal cortical bone morphology, Abnormal di...	OMIM:300831
Thrombophilia, X-Linked, Due To Factor Viii Defect	Pulmonary embolism	OMIM:301071
Endocardial Fibroelastosis	Sandal gap, Cryptorchidism, Congestive heart failure, Endocardial fibroelastosis, Restrictive car...	ORPHA:2022
Long Qt Syndrome 9	Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a...	OMIM:611818
Mitochondrial Trifunctional Protein Deficiency	Hypoparathyroidism, Exercise intolerance, Rigors, Tricuspid regurgitation, Failure to thrive in i...	ORPHA:746
Leydig Cell Hypoplasia	Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp...	ORPHA:755
Laryngeal Neuroendocrine Tumor	Anorexia, Oral-pharyngeal dysphagia, Adrenocorticotropic hormone excess, Elevated carcinoembryoni...	ORPHA:100083
Alpha-B Crystallin-Related Late-Onset Myopathy	Muscle fiber inclusion bodies, Autophagic vacuoles, Respiratory insufficiency due to muscle weakn...	ORPHA:399058
46,Xy Sex Reversal 3	Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Sex reversal, Hypoplasia...	OMIM:612965
Shwachman-Diamond Syndrome	Normocytic anemia, Osteopenia, Transient neutropenia, Aplastic anemia, Decreased response to grow...	ORPHA:811
Romano-Ward Syndrome	Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Torsade de pointes, Abnormal T-wav...	ORPHA:101016
Pulmonary Hypertension, Primary, 4	Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs...	OMIM:615344
Isolated Agammaglobulinemia	Fatigue, Recurrent cutaneous abscess formation, Recurrent respiratory infections, Failure to thri...	ORPHA:229717
Gaucher Disease Type 3	Bone pain, Fatigue, Hepatomegaly, Increased bone mineral density, Pericardial effusion, Increased...	ORPHA:77261
Lower Motor Neuron Syndrome With Late-Adult Onset	Proximal muscle weakness in upper limbs, Elevated circulating creatine kinase concentration, Gast...	ORPHA:276435
Diethylstilbestrol Syndrome	Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A...	ORPHA:1916
Primary Hyperoxaluria	Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Chronic kidney disease, Stage 5 chronic...	ORPHA:416
Mixed-Type Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Tachycardia, Increased total bilirubin	ORPHA:90036
Myopathy, Isolated Mitochondrial, Autosomal Dominant	Exercise intolerance, Short stature, Facial palsy, Elevated circulating creatine kinase concentra...	OMIM:616209
Rigid Spine Syndrome	Hip contracture, Skeletal muscle atrophy, Pneumonia, Cardiac conduction abnormality, Abnormality ...	ORPHA:97244
Histiocytosis-Lymphadenopathy Plus Syndrome	Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th...	OMIM:602782
Atherosclerosis Susceptibility	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction	OMIM:108725
Degcags Syndrome	Osteopenia, Oral-pharyngeal dysphagia, Synophrys, Low anterior hairline, Premature graying of hai...	OMIM:619488
Hypokalemic Tubulopathy And Deafness	Increased circulating renin level, Renal salt wasting	OMIM:619406
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1	Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Flexion contracture, Calf m...	OMIM:609308
Legg-Calvé-Perthes Disease	Cartilage destruction, Joint dislocation	ORPHA:2380
Catastrophic Antiphospholipid Syndrome	Angina pectoris, Transient ischemic attack, Myocardial infarction, Pulmonary embolism, Arterial o...	ORPHA:464343
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia	ORPHA:846
Lymphoid Interstitial Pneumonia	Fatigue, Hepatomegaly, Multiple pulmonary cysts, Crackles, Respiratory tract infection, Raynaud p...	ORPHA:79128
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral valve prolapse	OMIM:145350
Autosomal Recessive Malignant Osteopetrosis	Apnea, Bone pain, Reduced bone mineral density, Hypocalcemia, Otitis media, Hepatomegaly, Pulmona...	ORPHA:667
Hutchinson-Gilford Progeria Syndrome	Myocardial infarction, Osteoarthritis, Reduced bone mineral density, Intracranial hemorrhage, Dys...	ORPHA:740
Majeed Syndrome	Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Decreased mean corpuscula...	OMIM:609628
Melanoma-Pancreatic Cancer Syndrome	Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano...	OMIM:606719
Immunodeficiency 96	Conjunctival telangiectasia, Increased proportion of gamma-delta T cells, Increased mean corpuscu...	OMIM:619774
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Ventricular septal defect, Atrial septal defect, Arthrogryposis multiplex congenita, Patent foram...	OMIM:208085
Autosomal Dominant Severe Congenital Neutropenia	Osteopenia, Aplastic anemia, Recurrent viral infections, Periodontitis, Neutropenia, Recurrent ea...	ORPHA:486
Snakebite Envenomation	Hyponatremia, Tachycardia, Epistaxis, Myocardial infarction, Intracranial hemorrhage, Cerebral is...	ORPHA:449285
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Elevated circulating creatine kinase concentration, Low anterior hairline, Respiratory insufficie...	OMIM:613153
Immune-Mediated Necrotizing Myopathy	Skeletal muscle atrophy, Myositis, Scapular winging, Skin rash, Elevated circulating creatine kin...	ORPHA:206569
Immunodeficiency 61	Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG...	OMIM:300310
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Increased circulating ferritin concentration, Anisopoikilocytosis, Reticulocytopenia, Hepatosplen...	ORPHA:300298
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Diabetes mellitus, Hypomagnesemia, Hyperuricemia, Increased blood urea nitrogen, Ty...	OMIM:613845
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Respiratory distress, Ventricular septal defect, Cryptorchidism, Atrial septal defect, Pulmonary ...	ORPHA:2519
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto...	ORPHA:137675
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete...	OMIM:143400
Short Syndrome	Inguinal hernia, Lipodystrophy, Lipoatrophy, Small for gestational age, Insulin resistance, Absen...	OMIM:269880
Finnish Upper Limb-Onset Distal Myopathy	Fatty replacement of skeletal muscle, Intrinsic hand muscle atrophy, Cardiomyopathy, Amyotrophy o...	ORPHA:399086
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Respiratory distress, Tachycardia, Hepatomegaly, Ventricular septal defect...	ORPHA:26793
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Finger syndactyly, Alopecia, Brachydactyly, Abnormal pulmonary valve...	ORPHA:974
Barth Syndrome	Endocardial fibroelastosis, Neutropenia, Fatigue, Increased left ventricular end-diastolic volume...	OMIM:302060
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Elevated circulating C-reactive protein concentration, Recurrent viral infect...	OMIM:619573
Immunodeficiency, Common Variable, 5	Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in...	OMIM:613495
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14	Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Respiratory insufficiency, ...	OMIM:615352
Fanconi Renotubular Syndrome 1	Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica...	OMIM:134600
Cardiomyopathy, Familial Hypertrophic, 6	Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail...	OMIM:600858
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Tricuspid regurgitation, Crackles, Dyspnea, Asthma, Wheezing, Bronchiectasis, Mitra...	OMIM:620233
Familial Short Qt Syndrome	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope...	ORPHA:51083
Eisenmenger Syndrome	Elevated circulating C-reactive protein concentration, Ventricular tachycardia, Iron deficiency a...	ORPHA:97214
Beta-Thalassemia Intermedia	Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Elevated hepatic iron con...	ORPHA:231222
Avian Influenza	Respiratory distress, Elevated circulating creatine kinase concentration, Elevated circulating C-...	ORPHA:454836
Diabetes Mellitus, Permanent Neonatal, 3	Type I diabetes mellitus, Hyperglycemia, Small for gestational age, Glycosuria	OMIM:618857
Helix Syndrome	Renal insufficiency, Polyuria, Hypermagnesemia, Nephrolithiasis, Hypokalemia, Hypocalciuria	OMIM:617671
Long Qt Syndrome 1	Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,...	OMIM:192500
Mucopolysaccharidosis Type 1	Sinusitis, Apnea, Low anterior hairline, Arthralgia, Hernia, Cough, Chronic otitis media, General...	ORPHA:579
Attrv122I Amyloidosis	Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Cardiac amyloi...	ORPHA:85451
Hypereosinophilic Syndrome, Idiopathic	Splenomegaly, Restrictive cardiomyopathy, Endocardial fibrosis, Hepatomegaly	OMIM:607685
Isolated Sedoheptulokinase Deficiency	Inguinal hernia, Diastasis recti, Portal hypertension, Flexion contracture, Hepatitis, Cholestasi...	ORPHA:440713
Congenital Myopathy 10A, Severe Variant	Respiratory distress, Camptodactyly of finger, Elevated circulating creatine kinase concentration...	OMIM:614399
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Recurrent respiratory infections, Short stature, Recurrent bacterial infections, Neutropenia, Rec...	OMIM:616022
Maternally-Inherited Diabetes And Deafness	Congestive heart failure, Hypertension, Myalgia, Type II diabetes mellitus, Arrhythmia, Hypertrop...	ORPHA:225
Mantle Cell Lymphoma	Splenomegaly, Anorexia, Weight loss	ORPHA:52416
Specific Granule Deficiency 1	Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ...	OMIM:245480
Xp22.13P22.2 Duplication Syndrome	Macroorchidism, Polycystic ovaries	ORPHA:284180
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Hypoglycemia, Elevated circ...	ORPHA:42
Coenzyme Q10 Deficiency, Primary, 5	Respiratory insufficiency, Bradycardia, Left ventricular hypertrophy, Hyperalaninemia, Decreased ...	OMIM:614654
Retinal Dystrophy With Or Without Extraocular Anomalies	Goiter	OMIM:617175
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3	Hypertrophic cardiomyopathy	OMIM:614053
Chromosome 18Q Deletion Syndrome	Decreased response to growth hormone stimulation test, Proximal placement of thumb, Low anterior ...	OMIM:601808
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Large for gestational age, Flexion contracture, Abnormal aortic arch morphology, Tibial bowing, H...	ORPHA:96334
Enamel-Renal Syndrome	Renal insufficiency, Hypophosphaturia, Impaired renal concentrating ability, Nephrocalcinosis, En...	ORPHA:1031
Congenital Muscular Dystrophy, Ullrich Type	Long toe, Torticollis, Elevated circulating creatine kinase concentration, Abnormal muscle fiber ...	ORPHA:75840
Typhoid	Fatigue, Hepatomegaly, Gastrointestinal hemorrhage, Epistaxis, Cardiac arrest, Abdominal pain, Sp...	ORPHA:99745
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Ventricular hypertrophy, Increased mitochondrial number, Decreased muscle mass, Decreased muscle ...	ORPHA:263297
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Dyspnea, Tachypnea, Abnormal pulmonary interstitial morphology, Restrictive ventilatory defect, A...	OMIM:616414
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Neurofibrillary tangles, Lateral ventricle dilatation, Gliosis, Neuronal loss in central nervous ...	OMIM:607485
Braddock Syndrome	Congenital muscular torticollis, Neonatal respiratory distress, Short stature, Abnormal hair patt...	ORPHA:52047
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Primary gonadal insufficiency, Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hepatic...	ORPHA:436182
Autosomal Recessive Centronuclear Myopathy	Hip contracture, Scapular winging, Abnormal heart valve morphology, Facial palsy, Centrally nucle...	ORPHA:169186
Rapidly Involuting Congenital Hemangioma	Telangiectasia of the skin, Lipoatrophy, Perineal hemangioma, Congestive heart failure, Midfronta...	ORPHA:141184
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Left-to-right shunt, Ventricular septal defect, Cyanosis, Congestive heart failure, Left ventricu...	ORPHA:99050
X-Linked Intellectual Disability, Nascimento Type	Abnormal hair whorl, Synophrys, Compulsive behaviors, Neutropenia, Patent foramen ovale, Generali...	ORPHA:163956
Lysinuric Protein Intolerance	Osteopenia, Decreased HDL cholesterol concentration, Decreased response to growth hormone stimula...	ORPHA:470
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Dilated cardiomyopathy, Ventricular tachycardia, Syncope	OMIM:615821
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypertrophic cardiomyopathy, Dilated cardiomyopathy	OMIM:231530
Placental Insufficiency	Hypoxemia, Insulin resistance, Small for gestational age	ORPHA:439167
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Hepatomegaly, Pulmonary fibrosis, Restrictive ventilatory defect	OMIM:615704
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant	Pulmonary embolism	OMIM:176860
Alpha-1-Antitrypsin Deficiency	Hepatomegaly, Jaundice, Hepatitis, Emphysema, Hepatic failure	ORPHA:60
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Hyperactivity, Hypoglycemia, Small for gestational age, Insulin resistance, Truncal obesity, Hypo...	ORPHA:73272
Nemaline Myopathy 2	Skeletal muscle atrophy, Apnea, Fatty replacement of skeletal muscle, Flexion contracture, Congen...	OMIM:256030
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Ureteral stenosis, Hydroureter, Hypercalciuria, Renal cyst, Nephrocalcinosis	OMIM:615398
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Isosexual precocious puberty, Premature thelarche, Precocious puberty, Ambiguous genitalia, femal...	ORPHA:90795
Luscan-Lumish Syndrome	Irregular menstruation, Polycystic ovaries	OMIM:616831
Short Stature, Microcephaly, And Endocrine Dysfunction	Inguinal hernia, Broad-based gait, Ataxia, Diabetes mellitus, Cryptorchidism, Insulin resistance,...	OMIM:616541
Bloom Syndrome	Recurrent herpes, Bronchitis, Adipose tissue loss, Severe varicella zoster infection, Uveitis, Ne...	ORPHA:125
Mannose-Binding Lectin Deficiency	Recurrent herpes, Recurrent Klebsiella infections, Recurrent skin infections, Disseminated crypto...	OMIM:614372
Pancreatic Cancer, Susceptibility To, 1	Pancreatic adenocarcinoma	OMIM:606856
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,...	ORPHA:168563
Beta-Thalassemia	Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Abnormality of iron homeostasis, Hy...	ORPHA:848
9Q31.1Q31.3 Microdeletion Syndrome	Aortic regurgitation, Dilated cardiomyopathy, Bicuspid aortic valve, Renovascular hypertension	ORPHA:401923
Nonaka Myopathy	Elevated circulating creatine kinase concentration, Distal amyotrophy, EMG: myopathic abnormaliti...	OMIM:605820
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Shock, Tachycardia, Pneumonia, Epistaxis, Hematemesis, Dyspnea, Capillary l...	ORPHA:340
Hellp Syndrome	Pulmonary edema, Cerebral hemorrhage, Hypotension, Pleural effusion, Internal hemorrhage, General...	ORPHA:244242
Osteogenesis Imperfecta, Type Iii	Protrusio acetabuli, Severe generalized osteoporosis, Recurrent fractures, Multiple prenatal frac...	OMIM:259420
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Osteopenia, Decreased muscle mass, Widened atrophic scar, Distal joint laxity, Generalized joint ...	ORPHA:1900
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset	Hip contracture, Elbow contracture, Elevated circulating creatine kinase concentration, Ankle con...	OMIM:620386
Peroxisome Biogenesis Disorder 12A (Zellweger)	Short stature, Wide anterior fontanel, Sepsis, Growth delay, Hyperbilirubinemia, Decreased body w...	OMIM:614886
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Hyposthenuria, Decreased serum creatin...	OMIM:300539
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Polyuria, Renal salt wasting, Enuresis, Hypokalemia, Increased circulating renin level, Hypocalci...	OMIM:612780
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Tachycardia, Syncope, Premature ventricular contraction	OMIM:192445
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu...	OMIM:610805
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Renal salt wasting, Increased urina...	OMIM:241200
Eosinophilic Granulomatosis With Polyangiitis	Myositis, Sinusitis, Myocardial infarction, Tubulointerstitial nephritis, Arthralgia, Cough, Acro...	ORPHA:183
Thyroid Dyshormonogenesis 1	Hypothyroidism, Goiter	OMIM:274400
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Hypokal...	OMIM:611590
Autosomal Dominant Hypocalcemia	Hypercalciuria, Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypermagnesiuria	ORPHA:428
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Tachycardia, Hypoproteinemia	OMIM:221400
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hypertriglyceridemia, Skin rash, Splenomegaly, Increased circulating ferritin conce...	OMIM:603552
Congenital Myopathy 24	Scapular winging, Reduced vital capacity, Facial palsy, First degree atrioventricular block, Card...	OMIM:617336
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomyopathy, Impotence, Orthostatic hypotension due to autonomic dysfunction, Pulmonary edema	OMIM:105210
Pachydermoperiostosis	Bone pain, Arthralgia, Genu varum, Hepatomegaly, Acne, Osteoporosis, Anemia, Abnormal hair quanti...	ORPHA:2796
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity...	OMIM:615812
Gorham-Stout Disease	Osteopenia, Torticollis, Abnormal pelvis bone morphology, Osteomyelitis, Hemangiomatosis, Osteoly...	ORPHA:73
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Hypopigmentation of hair, Congestive heart failure, Abnormal heart morphology, Respiratory failur...	ORPHA:70472
Scorpion Envenomation	Bundle branch block, Tachycardia, Edema, Cardiac conduction abnormality, Congestive heart failure...	ORPHA:466677
Pediatric-Onset Graves Disease	Thyrotoxicosis with diffuse goiter, Increased circulating T4 concentration, Intrauterine growth r...	ORPHA:525731
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter...	OMIM:108900
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Cryptorchidism, Emphysema, Pulmonary fibrosis, Portal hypertension	OMIM:620365
Bacterial Toxic-Shock Syndrome	Respiratory distress, Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concen...	ORPHA:36234
Childhood-Onset Nemaline Myopathy	Exercise intolerance, Reduced vital capacity, Scapular winging, Respiratory insufficiency due to ...	ORPHA:171439
Fontaine Progeroid Syndrome	Bicuspid aortic valve, Hypoplasia of the abdominal wall musculature, Synophrys, Low anterior hair...	OMIM:612289
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Myopathy, Hypertriglyceridemia, Short stature	ORPHA:366
Schaaf-Yang Syndrome	Failure to thrive in infancy, Rocker bottom foot, Impulsivity, Tapered finger, Short stature, Cry...	OMIM:615547
Lmna-Related Cardiocutaneous Progeria Syndrome	Premature graying of hair, Intracranial hemorrhage, Papillary renal cell carcinoma, Sparse hair, ...	ORPHA:363618
Galactose Epimerase Deficiency	Hepatomegaly, Splenomegaly, Jaundice, Weight loss, Aminoaciduria	ORPHA:79238
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Limited hip extension, Flexion contracture, Tibial bowing, Shoulder dislocation, Arthralgia, Shor...	OMIM:143095
Dietary Iron Overload Disease	Viral hepatitis, Hepatomegaly, Diabetes mellitus, Chronic infection, Increased circulating ferrit...	ORPHA:139507
Hypocalcemic Vitamin D-Dependent Rickets	Irregular, rachitic-like metaphyses, Delayed epiphyseal ossification, Femoral bowing, Tibial bowi...	ORPHA:289157
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Nodular goiter, Papillary thyroid carcinoma, Goiter	ORPHA:97290
Pancreatic Cancer, Susceptibility To, 2	Neoplasm of the pancreas	OMIM:613347
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Respiratory failure requiring assisted ventilation, Hepatomegaly, Facial hy...	ORPHA:308552
Isolated Atp Synthase Deficiency	Respiratory distress, Hepatomegaly, Dilated cardiomyopathy, Arrhythmia, Hypertrophic cardiomyopathy	ORPHA:254913
Mitochondrial Trifunctional Protein Deficiency 2	Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral regurgitation, Hypot...	OMIM:620300
Mcleod Syndrome	Hepatomegaly, Atrial fibrillation, Splenomegaly, Dilated cardiomyopathy, Rhabdomyolysis, Cardiomy...	OMIM:300842
Basel-Vanagaite-Smirin-Yosef Syndrome	Sparse scalp hair, Inguinal hernia, Finger syndactyly, Overlapping fingers, Overlapping toe, Atri...	ORPHA:464738
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	T lymphocytopenia, Decreased circulating IgG level, Recurrent bacterial infections, Recurrent can...	OMIM:242870
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Short stature, Hip dislocation, Sepsis, Pulmonary arterial hypertension, Hyperglycinemia, Hyperal...	OMIM:619059
Osteogenesis Imperfecta, Type Xxii	Bowing of the long bones, Short stature, Recurrent fractures, Abnormal circulating calcium concen...	OMIM:619795
Melnick-Needles Syndrome	Tibial bowing, Coarse hair, Frontal hirsutism, Cone-shaped epiphyses of the phalanges of the hand...	OMIM:309350
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypercholesterolemia, Hypoalbuminemia	ORPHA:94124
Arterial Calcification, Generalized, Of Infancy, 1	Neonatal respiratory distress, Myocardial infarction, Cardiomegaly, Congestive heart failure, Dil...	OMIM:208000
Martsolf Syndrome 1	Osteopathia striata, Low anterior hairline, Finger joint hypermobility, Short palm, Short phalanx...	OMIM:212720
Bdv Syndrome	Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe...	OMIM:619326
Paget Disease Of Bone 5, Juvenile-Onset	Increased urine deoxypyridinoline level, Hydroxyprolinemia, Hypercalciuria, Hyperphosphatemia, Hy...	OMIM:239000
Nephrotic Syndrome, Type 11	Dilated cardiomyopathy, Ventricular septal defect	OMIM:616730
Developmental Delay With Or Without Dysmorphic Facies And Autism	Omphalocele, Inguinal hernia, Ventricular septal defect, Short stature, Congenital diaphragmatic ...	OMIM:618454
Hypokalemic Periodic Paralysis	Episodic hypokalemia, Abnormal muscle fiber morphology, Adrenocortical adenoma, Increased intramy...	ORPHA:681
Magel2-Related Prader-Willi-Like Syndrome	Osteopenia, Flexion contracture, Increased body weight, Compulsive behaviors, Atrial septal defec...	ORPHA:398069
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Joint laxity, Recurrent respiratory infections, Multiple joint contractures, Centrally nucleated ...	ORPHA:486815
Hb Bart'S Hydrops Fetalis	Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Anemia	ORPHA:163596
Hereditary Coproporphyria	Hyponatremia, Abnormal circulating porphyrin concentration, Tachycardia, Anemia	ORPHA:79273
Long Qt Syndrome 5	Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven...	OMIM:613695
Familial Renal Glucosuria	Elevated hemoglobin A1c, Insulin resistance, Abnormal circulating insulin concentration, Glycosur...	ORPHA:69076
Immunodeficiency 104	Hepatomegaly, Pneumonia, Eczema, Splenomegaly, Recurrent opportunistic infections, Chronic mucocu...	OMIM:608971
Rothmund-Thomson Syndrome Type 1	Osteopenia, Aplastic anemia, Patellar hypoplasia, Squamous cell carcinoma, Neutropenia, Sparse ha...	ORPHA:221008
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Astrocytosis	OMIM:611087
Pulmonary Hypertension, Primary, 3	Increased pulmonary vascular resistance, Pulmonary arterial hypertension, Elevated pulmonary arte...	OMIM:615343
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Idiopathic Congenital Hypothyroidism	Hypothermia, Increased radioactive iodine uptake, Decreased circulating T4 concentration, Umbilic...	ORPHA:95717
Short Stature, Dauber-Argente Type	Osteopenia, Long toe, Arachnodactyly, Decreased fibular diameter, Long fingers, Fasting hyperinsu...	OMIM:619489
Usher Syndrome, Type 1M	Left ventricular hypertrophy	OMIM:618632
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypercholesterolemia, Hypoalbuminemia	OMIM:607250
Erdheim-Chester Disease	Bone pain, Cough, Fatigue, Increased bone mineral density, Hypogonadotropic hypogonadism, Abnorma...	ORPHA:35687
Malignant Hyperthermia, Susceptibility To, 1	Tachycardia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia,...	OMIM:145600
Pseudohypoparathyroidism Type 1A	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:79443
Neonatal Lupus Erythematosus	Prolonged QT interval, Hepatomegaly, Heart block, Splenomegaly, Dilated cardiomyopathy, Atriovent...	ORPHA:398124
Coenzyme Q10 Deficiency, Primary, 2	Aortic regurgitation, Pulmonary arterial hypertension, Mitral regurgitation	OMIM:614651
Griscelli Syndrome, Type 2	Silver-gray hair, Hepatosplenomegaly, Recurrent bacterial infections, Hemophagocytosis, Reduced d...	OMIM:607624
Mitochondrial Complex I Deficiency, Nuclear Type 39	Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septal defect, Hyp...	OMIM:620135
Multiminicore Myopathy	Proximal muscle weakness in upper limbs, Short stature, Abnormal muscle fiber morphology, Respira...	ORPHA:598
Kallmann Syndrome-Heart Disease Syndrome	Aortic regurgitation, Cyanosis, Bilateral cryptorchidism, Congestive heart failure, Dilated cardi...	ORPHA:2326
Chromosome 13Q33-Q34 Deletion Syndrome	Hyperactivity, Overlapping toe, Small for gestational age, Short stature, Tapered finger, Aggress...	OMIM:619148
Carnitine Deficiency, Systemic Primary	Respiratory distress, Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomeg...	OMIM:212140
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Increased serum pyruvate, Hepatomegaly, Hyperglutamatemia, Hypoglycemia, Failur...	ORPHA:3008
Diabetes Mellitus, Transient Neonatal, 3	Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ...	OMIM:610582
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Hypoplasia of the uterus, Hypo...	OMIM:614841
Cholesteryl Ester Storage Disease	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cells, Portal hyp...	OMIM:278000
Idiopathic Hypereosinophilic Syndrome	Myelofibrosis, Respiratory distress, Skeletal muscle atrophy, Cholangitis, Pulmonary embolism, In...	ORPHA:3260
Ullrich Congenital Muscular Dystrophy 1	Reduced muscle collagen VI, Distal joint laxity, Flexion contracture, Hyperextensibility at wrist...	OMIM:254090
Postinfectious Vasculitis	Elevated circulating C-reactive protein concentration, Anorexia, Severe varicella zoster infectio...	ORPHA:48435
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Alopecia, Bulging epiphyses, Bowing of the long bones, Rickets of the lower limbs, Thin bony cort...	OMIM:600785
Basel-Vanagaite-Smirin-Yosef Syndrome	Atrial septal defect, Inguinal hernia, Ventricular septal defect, Recurrent pneumonia, 2-3 toe sy...	OMIM:616449
Idiopathic Achalasia	Bronchitis, Cough, Wheezing, Weight loss, Chest pain, Dysphagia, Decreased prealbumin level, Recu...	ORPHA:930
Xp21 Deletion Syndrome	Joint laxity, Decreased muscle mass, Hypertriglyceridemia, Hypogonadotropic hypogonadism, Elevate...	ORPHA:261476
Arterial Tortuosity Syndrome	Respiratory distress, Myocardial infarction, Coxa vara, Clinodactyly of the 5th finger, Fatigue, ...	ORPHA:3342
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance	Exercise intolerance, Proximal muscle weakness in upper limbs, Increased mitochondrial number, Sh...	ORPHA:457050
Lethal Infantile Mitochondrial Myopathy	Cardiomyopathy, Neonatal respiratory distress	ORPHA:254857
Welander Distal Myopathy	Distal amyotrophy, Mildly elevated creatine kinase, Rimmed vacuoles	OMIM:604454
Hypersensitivity Pneumonitis, Familial	Hypersensitivity pneumonitis	OMIM:145300
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Respiratory tract infection, Hypersensitivity pneumonitis, Nonproductive cough, Chronic pulmonary...	ORPHA:79127
Brugada Syndrome 8	Right bundle branch block, ST segment elevation, Ventricular tachycardia	OMIM:613123
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Stiff neck, Elevated circulating creatine kinase concentration, Anorexia, Ab...	ORPHA:99827
Jervell And Lange-Nielsen Syndrome 2	Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ...	OMIM:612347
Fanconi Renotubular Syndrome 3	Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-...	OMIM:615605
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Proportionate shortening of all digits, Elevated circulating alpha-fetoprotein concentration, Tap...	ORPHA:280633
Classical-Like Ehlers-Danlos Syndrome Type 2	Osteopenia, Widened atrophic scar, Equinus calcaneus, Shoulder dislocation, Periodontitis, Alopec...	ORPHA:536532
Rothmund-Thomson Syndrome	Osteopenia, Aplastic anemia, Reduced bone mineral density, Squamous cell carcinoma, Neutropenia, ...	ORPHA:2909
Mucopolysaccharidosis, Type Ii	Hepatomegaly, Inguinal hernia, Severe short stature, Abnormal heart valve morphology, Short statu...	OMIM:309900
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Alopecia, Lipodystrophy, Neoplasm of the skeletal system, Abnormal eye...	ORPHA:2396
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification	Emphysema, Hepatic failure, Cirrhosis, Portal hypertension	OMIM:210050
Meckel Syndrome, Type 8	Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys	OMIM:613885
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Fatigue, Exercise intolerance, Hepatomegaly, Hypertriglyceridemia, Short stature, Elevated circul...	ORPHA:79240
Thrombophilia Due To Thrombin Defect	Pulmonary embolism	OMIM:188050
Mitochondrial Complex I Deficiency, Nuclear Type 20	Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy	OMIM:611126
Pgm3-Cdg	Abnormal CD4:CD8 ratio, Recurrent viral infections, Sepsis, Increased circulating IgG level, Leuk...	ORPHA:443811
Ctcf-Related Neurodevelopmental Disorder	Osteopenia, Synophrys, Sepsis, Joint contracture of the 5th finger, Clinodactyly of the 5th finge...	ORPHA:363611
Simple Cryoglobulinemia	Monoclonal elevation of circulating IgA, Myocardial infarction, Abnormal lung morphology, Parapro...	ORPHA:91139
Cardiomyopathy, Familial Restrictive, 3	Myocardial sarcomeric disarray, Abnormal ST segment, Reduced left ventricular ejection fraction, ...	OMIM:612422
Pseudohypoparathyroidism Type 1C	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:79444
Lipoyltransferase 1 Deficiency	Pulmonary arterial hypertension, Bradycardia	OMIM:616299
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Osteopenia, Recurrent viral infections, Recurrent aspiration pneumonia, Neonatal respiratory dist...	ORPHA:221139
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypoparathyroidism, Osteopenia, Hypertriglyceridemia, Hypercalcemia, Craniosynostosis, Precocious...	ORPHA:369837
Congenital Heart Block	Fatigue, Exercise intolerance, Cyanosis, First degree atrioventricular block, Gallop rhythm, Peri...	ORPHA:60041
Immunodeficiency, Common Variable, 2	Hepatomegaly, Impaired T cell function, Splenomegaly, Recurrent pneumonia, Lymphoma, Bronchiectas...	OMIM:240500
Sudden Cardiac Failure, Infantile	Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy...	OMIM:617222
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ...	OMIM:610978
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Achilles tendon contractur...	OMIM:620068
Hemochromatosis, Type 2B	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa...	OMIM:613313
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Ventricular septal defect, Short stature, Congenital diaphragmatic hernia, Joint stiffness, Crypt...	ORPHA:1166
Congenital Aortic Valve Stenosis	Angina pectoris, Sudden cardiac death, Aortic valve calcification, Aortic valve atresia, Increase...	ORPHA:3093
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Back pain, Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Elevated cir...	OMIM:167320
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Renal salt wasting, Increased urin...	OMIM:613090
Leptin Deficiency Or Dysfunction	Recurrent ear infections, Decreased serum leptin, Recurrent upper respiratory tract infections, R...	OMIM:614962
Immunodeficiency By Defective Expression Of Mhc Class Ii	Recurrent herpes, Sinusitis, Abnormal CD4:CD8 ratio, Recurrent viral infections, Acute otitis med...	ORPHA:572
Immunodeficiency 27A	Increased inflammatory response, Abnormal bronchus physiology, Hypoplasia of the femoral head, Pn...	OMIM:209950
Infantile Systemic Hyalinosis	Osteopenia, Severe short stature, Telangiectasia of the skin, Camptodactyly of finger, Osteomalac...	ORPHA:2176
Wilson Disease	Hepatomegaly, Hyperphosphaturia, Decreased circulating ceruloplasmin concentration, Hypouricemia,...	OMIM:277900
Primary Erythromelalgia	Recurrent respiratory infections, Hypothermia	ORPHA:90026
Glycogen Storage Disease Xv	ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachycardia, T-wave inver...	OMIM:613507
Combined Oxidative Phosphorylation Deficiency 17	Postnatal growth retardation, Congestive heart failure, Intrauterine growth retardation, Hypertro...	OMIM:615440
Partial Androgen Insensitivity Syndrome	Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Male infertility, Hypospadias, Elevated ...	ORPHA:90797
Lipase Deficiency, Combined	Pancreatitis, Hypertriglyceridemia, Lipodystrophy, Type II diabetes mellitus	OMIM:246650
Mitochondrial Trifunctional Protein Deficiency 1	Congestive heart failure, Dilated cardiomyopathy, Rhabdomyolysis, Respiratory insufficiency, Myop...	OMIM:609015
Inflammatory Pseudotumor Of The Liver	Diabetes mellitus, Elevated circulating aspartate aminotransferase concentration, Elevated circul...	ORPHA:90003
Immunodeficiency 48	Recurrent respiratory infections, Hepatomegaly, Pneumonia, Absence of CD8-positive T cells, Splen...	OMIM:269840
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Pulmonary embolism, Microcytic anemia, Congestive hear...	ORPHA:90308
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Cerebral hemorrhage, Dilated cardiomyopathy, Abnormal left ventricle morphology, Hypertension, Az...	OMIM:300845
Mullerian Aplasia And Hyperandrogenism	Abnormal external genitalia, Primary amenorrhea, Aplasia of the vagina, Aplasia of the fallopian ...	OMIM:158330
Maternal Uniparental Disomy Of Chromosome X	Short stature, Rocker bottom foot, Camptodactyly of finger, Congestive heart failure, Flexion con...	ORPHA:261519
Hallermann-Streiff Syndrome	Sparse scalp hair, Recurrent respiratory infections, Hyperactivity, Sparse eyelashes, Small for g...	OMIM:234100
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6	Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction	OMIM:604401
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Anemia, Leukopenia, Increased mean corpuscular volume, Budd-Chiari syndrome, Lym...	OMIM:127550
Familial Thyroid Dyshormonogenesis	Positive perchlorate discharge test, Hypothermia, Thyroid defect in oxidation and organification ...	ORPHA:95716
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Hypertyrosinemia, Elevated hepatic transaminase, Hypoglycemia, Cholangitis, Microvesicular hepati...	OMIM:124000
Congenital Myopathy With Myasthenic-Like Onset	Recurrent respiratory infections, Scapular winging, Multiple joint contractures, Elevated circula...	ORPHA:424107
Diarrhea 13	Elevated hepatic transaminase, Recurrent hypoglycemia, Hypoalbuminemia, Failure to thrive, Hepati...	OMIM:620357
Idiopathic Bronchiectasis	Myocardial infarction, Crackles, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Produ...	ORPHA:60033
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Recurrent viral infections, Severe varicella zoster infection, T lymphocytopenia, Hypothyroidism,...	OMIM:606367
Myopathy, Myofibrillar, 5	Elevated circulating creatine kinase concentration, Respiratory insufficiency, Muscle fiber cytop...	OMIM:609524
Aggressive Systemic Mastocytosis	Anorexia, Bone pain, Arthralgia, Neutropenia, Fatigue, Maculopapular exanthema, Portal hypertensi...	ORPHA:98850
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hepatomegaly, Hyperactivity, Hypertriglyceridemia	OMIM:615924
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2	Pulmonary fibrosis, Cirrhosis	OMIM:614743
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Neonatal respiratory distress, Diaphragmatic eventration, Spinal muscular atrophy, Secundum atria...	OMIM:616866
Aarskog-Scott Syndrome	Finger syndactyly, Inguinal hernia, Short stature, Camptodactyly of finger, Cryptorchidism, Conge...	ORPHA:915
Central Core Disease	Joint laxity, Neonatal respiratory distress, Multiple joint contractures, Congenital hip dislocat...	ORPHA:597
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt...	OMIM:616959
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Compulsive behavi...	ORPHA:293987
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Failure to thrive, Skin...	OMIM:300400
Truncus Arteriosus	Aortic regurgitation, Tachycardia, Cyanosis, Ventricular septal defect, Abnormal heart valve morp...	ORPHA:3384
Butyrylcholinesterase Deficiency	Respiratory failure requiring assisted ventilation, Myocardial infarction, Chronic infection, Con...	ORPHA:132
Congenital Myopathy 14	Hip contracture, Apnea, Respiratory insufficiency due to muscle weakness, Flexion contracture, El...	OMIM:618414
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Recurrent viral infections, Squamous cell carcinoma, Increased circulating IgG level, Disseminate...	OMIM:243700
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Gonadal dysgenesis, Polycystic ovaries	ORPHA:1770
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Tachycardia, Splenomegaly, Congestive heart failure, Chronic lymphat...	ORPHA:90033
Rabson-Mendenhall Syndrome	Reduced subcutaneous adipose tissue, Increased pineal volume, Enlarged ovaries, Impaired glucose ...	ORPHA:769
Perrault Syndrome 4	Premature ovarian insufficiency, Increased circulating gonadotropin level, Secondary amenorrhea, ...	OMIM:615300
Hypocalcemic Vitamin D-Resistant Rickets	Alopecia, Hyperparathyroidism, Coarse metaphyseal trabecularization, Osteomalacia, Short stature,...	ORPHA:93160
Telangiectasia, Hereditary Hemorrhagic, Type 5	Elevated hepatic transaminase, Spontaneous, recurrent epistaxis, Portal hypertension, Telangiectasia	OMIM:615506
Sick Sinus Syndrome 2	Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden...	OMIM:163800
Short Qt Syndrome 3	Shortened QT interval, Tachycardia, Palpitations	OMIM:609622
Oculopharyngodistal Myopathy 1	Respiratory distress, Paroxysmal atrial fibrillation, Autophagic vacuoles, Facial palsy, Hypercap...	OMIM:164310
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Short stature, Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly...	ORPHA:166277
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
East Syndrome	Renal salt wasting, Renal magnesium wasting, Enuresis, Hypokalemia, Increased circulating renin l...	ORPHA:199343
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Increased serum pyruvate, Elevated hepatic transaminase, Hypoglycemia, Small for gestational age,...	OMIM:615160
Cardiomyopathy, Familial Restrictive, 6	Hepatomegaly, Tricuspid regurgitation, Pulmonic stenosis, Restrictive cardiomyopathy, Pulmonary i...	OMIM:619433
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Lymphadenitis, Infla...	OMIM:615895
Osteogenesis Imperfecta	Osteopenia, Micromelia, Abnormal tibia morphology, Flexion contracture, Bone pain, Abnormal femur...	ORPHA:666
Tularemia	Thrombocytopenia, Leukocytosis, Tachycardia, Anemia	ORPHA:3392
Myopathy, Myofibrillar, 2	Orthopnea, Elevated circulating creatine kinase concentration, Respiratory insufficiency due to m...	OMIM:608810
Graft Versus Host Disease	Skeletal muscle atrophy, Fasciitis, Myositis, Limited elbow movement, Gastrointestinal inflammati...	ORPHA:39812
Bangstad Syndrome	Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Small for gestational age, Go...	OMIM:210740
Prader-Willi Syndrome	Osteopenia, Decreased muscle mass, Decreased response to growth hormone stimulation test, Short p...	OMIM:176270
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Nephroblastoma, Enlarged kidney	OMIM:618272
Carnitine-Acylcarnitine Translocase Deficiency	Elevated circulating creatine kinase concentration, Cardiac arrest, Ventricular tachycardia, Atri...	OMIM:212138
Dopamine Beta-Hydroxylase Deficiency	Hypoglycemia, Insulin resistance, Hyperinsulinemia, Elevated circulating creatinine concentration...	ORPHA:230
Yellow Nail Syndrome	Recurrent respiratory infections, Renal neoplasm, Sinusitis, Yellow nails, Dyspnea, Bronchiectasi...	ORPHA:662
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ...	ORPHA:231226
Oculodentodigital Dysplasia	Brittle hair, Clinodactyly of the 5th finger, Sparse hair, Finger syndactyly, Abnormal dental ena...	ORPHA:2710
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,...	ORPHA:98793
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia, Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis,...	OMIM:608898
Lipodystrophy, Familial Partial, Type 7	Lack of facial subcutaneous fat, Sparse hair, Lower limb muscle weakness, Decreased adipose tissu...	OMIM:606721
Whipple Disease	Hyponatremia, Hepatomegaly, Myositis, Anorexia, Cachexia, Splenomegaly, Insulin resistance, Polyd...	ORPHA:3452
Apolipoprotein C-Ii Deficiency	Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration, Decreased ci...	OMIM:207750
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,...	ORPHA:177904
Diffuse Alveolar Hemorrhage	Respiratory failure requiring assisted ventilation, Dyspnea, Increased DLCO, Hypoxemia, Restricti...	ORPHA:90060
Vaginal Atresia	Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Primary amenorrhea, ...	ORPHA:65681
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Recurrent herpes, Decreased proportion of naive T cells, Sepsis, Recurrent cutaneous fungal infec...	ORPHA:276
Pigmented Nodular Adrenocortical Disease, Primary, 2	Ovarian cyst	OMIM:610475
Activated Pi3K-Delta Syndrome	Hepatomegaly, Pneumonia, Splenomegaly, Severe varicella zoster infection, Recurrent tonsillitis, ...	ORPHA:397596
Neutrophilic Dermatosis, Acute Febrile	Small vessel vasculitis, Dilated cardiomyopathy	OMIM:608068
Congenital Multicore Myopathy With External Ophthalmoplegia	Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Flexion contracture, Type 1...	ORPHA:98905
Leprechaunism	Reduced subcutaneous adipose tissue, Hepatomegaly, Skeletal muscle atrophy, Enlarged ovaries, Ins...	ORPHA:508
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,...	ORPHA:98754
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent isohemaggl...	OMIM:613501
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi...	OMIM:617052
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Elevated circulating C-reactive protein concentration, Nonproductive cough,...	ORPHA:36238
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,...	ORPHA:177901
Fanconi Renotubular Syndrome 5	Hypertension, Pulmonary fibrosis, Decreased DLCO, Emphysema, Lung adenocarcinoma	OMIM:618913
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Absence of renal corticomedullary differentiation, Splenomegal...	OMIM:263200
Chromosome 1P36 Deletion Syndrome, Proximal	Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov...	OMIM:619343
Mitchell-Riley Syndrome	Absent gallbladder, Diabetes mellitus, Biliary atresia, Cholestasis, Ascites, Acholic stools, Hyp...	OMIM:615710
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome	Joint laxity, Decreased muscle mass, Facial hypotonia, Highly arched eyebrow, Congestive heart fa...	ORPHA:500533
Attrv30M Amyloidosis	Cardiomyopathy, Arrhythmia, Atrioventricular block, Cardiomegaly	ORPHA:85447
Sandhoff Disease, Adult Form	Elevated circulating creatine kinase concentration, Upper limb muscle weakness, Proximal muscle w...	ORPHA:309169
Interstitial Lung Disease 1	Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Res...	OMIM:619611
16Q24.3 Microdeletion Syndrome	Dilated cardiomyopathy, Mitral regurgitation, Increased mean corpuscular volume, Thrombocytopenia	ORPHA:261250
Geleophysic Dysplasia 2	Hepatomegaly, Tricuspid stenosis, Respiratory insufficiency, Mitral valve prolapse, Mitral regurg...	OMIM:614185
17Q11 Microdeletion Syndrome	Osteopenia, Multiple mucosal neuromas, Brain neoplasm, Bowing of the legs, Abnormal lung morpholo...	ORPHA:97685
Immunodeficiency 110 With Lymphoproliferation	Recurrent viral infections, Secundum atrial septal defect, Sepsis, Neutropenia, Patent foramen ov...	OMIM:614868
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency	Pulmonary embolism	ORPHA:82
Congenital Myopathy 21 With Early Respiratory Failure	Dyspnea, Lipoid pneumonia, Respiratory failure, Nocturnal hypoventilation, Hypertrophic cardiomyo...	OMIM:620326
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Exocrine pancreatic...	OMIM:609812
Biliary, Renal, Neurologic, And Skeletal Syndrome	Osteopenia, Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Secundum atrial septal ...	OMIM:619534
Cranioectodermal Dysplasia 2	Cholangitis, Atrial septal defect, Sparse hair, Patent foramen ovale, Joint laxity, Syndactyly, H...	OMIM:613610
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Small for gestational age, Centrally nucleated skeletal muscle fibers, Weakness of facial muscula...	OMIM:618484
Hypogonadotropic Hypogonadism 25 With Anosmia	Cryptorchidism, Micropenis, Hypoplasia of the ovary, Primary amenorrhea	OMIM:618841
Immunodeficiency, Common Variable, 1	Hepatomegaly, Impaired T cell function, Pneumonia, Splenomegaly, Recurrent pneumonia, Neutropenia...	OMIM:607594
Lethal Congenital Contracture Syndrome Type 1	Skeletal muscle atrophy, Short stature, Recurrent fractures, Limitation of joint mobility, Slende...	ORPHA:1486
Thiamine-Responsive Megaloblastic Anemia Syndrome	Cardiac arrest, Megaloblastic anemia, Paroxysmal atrial tachycardia, Congestive heart failure, Th...	ORPHA:49827
Myelolymphatic Insufficiency	Leukopenia, Hyposegmentation of neutrophil nuclei, Recurrent bacterial infections, Recurrent vira...	OMIM:310350
Familial Cutaneous Collagenoma	Atrial septal defect, Congestive heart failure, Angina pectoris, Cardiomyopathy	ORPHA:53296
Huntington Disease	Oral-pharyngeal dysphagia, Aggressive behavior, Weight loss, Abnormal circulating cholesterol con...	ORPHA:399
Hyperparathyroidism-Jaw Tumor Syndrome	Renal insufficiency, Renal hamartoma, Hypercalcemia, Nephrolithiasis, Renal cyst, Hypercalciuria,...	ORPHA:99880
Acyl-Coa Dehydrogenase 9 Deficiency	Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, EM...	ORPHA:99901
Myopathy, Myofibrillar, 4	Autophagic vacuoles, Cardiomyopathy, Myofibrillar myopathy, EMG: myopathic abnormalities, Muscle ...	OMIM:609452
Pulmonary Alveolar Microlithiasis	Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exertion, Fatigue, Hepatomegal...	ORPHA:60025
Familial Multiple Lipomatosis	Insulin resistance, Hyperlipidemia, Lipodystrophy, Increased adipose tissue	ORPHA:199276
Resistance To Thyrotropin-Releasing Hormone Syndrome	Reduced circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone con...	ORPHA:99832
Beta-Thalassemia Major	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad...	ORPHA:231214
Nthl1-Related Attenuated Familial Adenomatous Polyposis	Endometrial carcinoma, Pancreatic adenocarcinoma, Ovarian cyst	ORPHA:454840
Thyroid Lymphoma	Hyperthyroidism, Hypothyroidism, Hashimoto thyroiditis, Goiter	ORPHA:97285
Duchenne Muscular Dystrophy	Skeletal muscle atrophy, Flexion contracture, Respiratory insufficiency, Calf muscle hypertrophy,...	ORPHA:98896
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Inflammation of the large intestine, Periodontitis, Hypothyroidism, Hepatomegaly, Sho...	ORPHA:79259
Mitochondrial Phosphate Carrier Deficiency	Hypertrophic cardiomyopathy, Cyanosis, Respiratory insufficiency, Abnormal mitochondrial shape	OMIM:610773
Amyloidosis, Finnish Type	Cardiomyopathy, Cardiac amyloidosis	OMIM:105120
Immunodeficiency 86	Increased circulating IgM level, Decreased circulating IgG level, Impaired oxidative burst, BCGitis	OMIM:619549
Coccidioidomycosis	Respiratory distress, Abnormality of the spleen, Abnormal long bone morphology, Increased circula...	ORPHA:228123
Mirage Syndrome	Adrenal hypoplasia, Sepsis, Intracranial hemorrhage, Leukopenia, Aspiration pneumonia, Achalasia,...	OMIM:617053
Necrotizing Enterocolitis	Hyponatremia, Small for gestational age, Peritonitis, Abnormal glucose homeostasis, Hyperglycemia...	ORPHA:391673
Japanese Encephalitis	Respiratory distress, Pulmonary edema, Respiratory paralysis, Abnormal pattern of respiration, Ce...	ORPHA:79139
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Hyperthyroidism, Small for gestational age, Thyrotoxicosis with diffuse goiter, Activating thyroi...	ORPHA:424
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Myopathy, Myofibrillar, 8	Reduced vital capacity, Scapular winging, Elevated circulating creatine kinase concentration, Cen...	OMIM:617258
Melas	Wolff-Parkinson-White syndrome, Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue,...	ORPHA:550
Pyle Disease	Metaphyseal dysplasia, Metaphyseal widening, Reduced bone mineral density, Genu valgum, Arthralgi...	OMIM:265900
Combined Oxidative Phosphorylation Deficiency 33	Fatigue, Exercise intolerance, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:617713
Scedosporiosis	Pericarditis, Arthralgia/arthritis, Sinusitis, Pneumonia, Bronchitis, Bronchial breath sound, Abn...	ORPHA:449280
Felty Syndrome	Hepatomegaly, Recurrent respiratory infections, Pericarditis, Sinusitis, Splenomegaly, Recurrent ...	ORPHA:47612
Smith-Magenis Syndrome	Toe syndactyly, Hypertriglyceridemia, Failure to thrive in infancy, Short stature, Joint stiffnes...	ORPHA:819
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Recurrent herpes, Liver abscess, Cholangitis, Bronchitis, Sepsis, Arthralgia, ...	ORPHA:183675
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Recurrent bacterial infections, Abnormality of T cell physiology, Recurrent protozoan infections,...	OMIM:308220
Hypocomplementemic Urticarial Vasculitis	Uveitis, Conjunctivitis, Cough, Emphysema, Meningitis, Hepatomegaly, Abdominal pain, Pericardial ...	ORPHA:36412
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Brain abscess, Central apnea, Severe short stature, Rhizomelia, Urinary inc...	OMIM:616482
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Fatigue, Scapular winging, Angulated muscle fibers, Shoulder girdle muscle weakness, Aspiration p...	OMIM:619477
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Osteopenia, Recurrent sinopulmonary infections, Skin rash, Eosinophilia, Craniosynostosis, Recurr...	OMIM:147060
Naxos Disease	Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi...	ORPHA:34217
Secondary Short Bowel Syndrome	Low plasma citrulline, Abnormal blood ion concentration, Cholestasis, Central hypothyroidism, Wei...	ORPHA:95427
Long Qt Syndrome 12	Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes	OMIM:612955
Whim Syndrome 1	Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating antibody leve...	OMIM:193670
Cowden Syndrome 7	Breast carcinoma, Trichilemmoma, Papillary thyroid carcinoma, Papilloma, Hemangioma, Ductal carci...	OMIM:616858
Granulomatous disease with defect in neutrophil chemotaxis	Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections	OMIM:233670
Parathyroid Carcinoma	Renal insufficiency, Renal hamartoma, Hypercalcemia, Nephrolithiasis, Renal cyst, Hypercalciuria,...	ORPHA:143
Grant Syndrome	Bowing of the long bones, Short stature, Joint hyperflexibility, Abnormal pelvic girdle bone morp...	ORPHA:2097
Weismann-Netter Syndrome	Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Abnormality of the t...	ORPHA:3344
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:255120
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Dyspnea, Aplasia/Hypoplasia of fingers, Upper airway obstruction, Weight lo...	ORPHA:141152
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Pericardial eff...	OMIM:619313
Multiple Acyl-Coa Dehydrogenase Deficiency	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Hepatomegaly, Scapul...	ORPHA:26791
Congenital Disorder Of Glycosylation, Type Iie	Hepatomegaly, Skeletal muscle atrophy, Short stature, Elevated circulating creatine kinase concen...	OMIM:608779
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3	Elevated circulating creatine kinase concentration, Proximal upper limb amyotrophy, Myopathy, Sho...	OMIM:609115
Paget Disease Of Bone 6	Recurrent fractures, Osteoarthritis, Bone pain, Left ventricular hypertrophy, Coronary artery ath...	OMIM:616833
Caspase 8 Deficiency	Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon...	OMIM:607271
Prader-Willi Syndrome	Osteopenia, Decreased response to growth hormone stimulation test, Periodontitis, Premature adren...	ORPHA:739
Pheochromocytoma--Islet Cell Tumor Syndrome	Tachycardia, Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension,...	OMIM:171420
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Reticulocytopenia, Leukopenia, Neutropenia, Short metacarpal, Tricuspid regurgitation, Short stat...	ORPHA:508542
Myopathy, Distal, With Rimmed Vacuoles	Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa...	OMIM:617158
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1	Elevated circulating creatine kinase concentration, Facial palsy, Dyspnea, Flexion contracture, S...	OMIM:603511
Primary Sclerosing Cholangitis	Osteopenia, Abnormal eosinophil morphology, Spider hemangioma, Uveitis, Hypoalbuminemia, Generali...	ORPHA:171
Hepatitis, Fulminant Viral, Susceptibility To	Elevated hepatic transaminase, Hepatomegaly, Fatigue, Jaundice, Fulminant hepatitis, Hepatic failure	OMIM:618549
Monosomy 18Q	Astrocytoma, Bilateral cryptorchidism, Secundum atrial septal defect, Low anterior hairline, Hypo...	ORPHA:1600
Supranuclear Palsy, Progressive, 1	Neurofibrillary tangles, Cerebral atrophy, Granulovacuolar degeneration, Astrocytosis, Gliosis, S...	OMIM:601104
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Elevated hepatic transaminase, Hepatomegaly, Recurrent respiratory infections, Portal hypertensio...	ORPHA:79124
45,X/46,Xy Mixed Gonadal Dysgenesis	Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit...	ORPHA:1772
Autosomal Recessive Spastic Paraplegia Type 70	Abnormal pulmonary interstitial morphology	ORPHA:401835
Stiff-Person Syndrome	Hypertension, Tachycardia, Anemia	OMIM:184850
Chronic Atrial And Intestinal Dysrhythmia	Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ...	OMIM:616201
Immunodeficiency 12	Skin rash, Abnormal lymphocyte count, Short stature, Recurrent viral infections, Clubbing, Osteop...	OMIM:615468
Cowden Syndrome 6	Hydrocele testis, Ovarian cyst, Varicocele, Goiter	OMIM:615109
Ovarian Fibrothecoma	Ovarian fibroma, Metrorrhagia, Abnormal endometrium morphology, Gonadal calcification, Abnormalit...	ORPHA:314478
19P13.12 Microdeletion Syndrome	Synophrys, Short palm, Atrial septal defect, Clinodactyly of the 5th finger, Hypothyroidism, Gene...	ORPHA:254346
Gaisböck Syndrome	Hypertriglyceridemia, Angina pectoris, Myocardial infarction, Splenomegaly, Increased mean corpus...	ORPHA:90041
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl...	ORPHA:1686
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating...	ORPHA:247598
Spontaneous Periodic Hypothermia	Hypothermia, Hyperhidrosis	ORPHA:29822
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Reduced subcutaneous adipose tissue, Lipodystrophy, Lipoatrophy, Cachexia, Flexion contracture, W...	ORPHA:1979
Multisystemic Smooth Muscle Dysfunction Syndrome	Hypoperistalsis, Cryptorchidism, Tachypnea, Hypertension, Atrial septal defect, Pulmonary arteria...	OMIM:613834
Diamond-Blackfan Anemia 7	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612562
Gm1-Gangliosidosis, Type I	Hepatomegaly, Abnormal heart valve morphology, Congestive heart failure, Splenomegaly, Dilated ca...	OMIM:230500
Propionic Acidemia	Cardiomyopathy, Arrhythmia, Hepatomegaly	ORPHA:35
Carnitine Palmitoyl Transferase 1A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Fatigue, Sudden cardiac death, Transient hyperlipide...	ORPHA:156
Hypercholesterolemia, Familial, 3	Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia	OMIM:603776
Cowden Syndrome 5	Hydrocele testis, Ovarian cyst, Goiter	OMIM:615108
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Osteopenia, Generalized joint laxity, Tibial bowing, Clinodactyly of the 5th finger, Sparse hair,...	ORPHA:251028
Hutchinson-Gilford Progeria Syndrome	Alopecia, Angina pectoris, Myocardial infarction, Precocious atherosclerosis, Congestive heart fa...	OMIM:176670
Familial Hemophagocytic Lymphohistiocytosis	Hepatomegaly, Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Maculopapu...	ORPHA:540
Purine Nucleoside Phosphorylase Deficiency	Sinusitis, Impaired T cell function, Pure red cell aplasia, Recurrent viral infections, Otitis me...	OMIM:613179
Oculopharyngodistal Myopathy	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Abnormality of orbicularis...	ORPHA:98897
Tetragametic Chimerism	Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality...	ORPHA:199310
Primary Familial Polycythemia	Epistaxis, Polycythemia, Abnormal hemoglobin	ORPHA:90042
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Anorexia, Weight loss	ORPHA:86893
Galloway-Mowat Syndrome 7	Dilated cardiomyopathy, Ventricular septal defect	OMIM:618348
Brugada Syndrome 3	Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar...	OMIM:611875
Juvenile Dermatomyositis	Fatigue, Bundle branch block, Gastrointestinal hemorrhage, Pericarditis, Angina pectoris, Telangi...	ORPHA:93672
Immunodeficiency 91 And Hyperinflammation	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Recurrent pneumonia, Abnormal...	OMIM:619644
Leber Hereditary Optic Neuropathy	Arrhythmia, Ventricular preexcitation, Retinal telangiectasia	ORPHA:104
Riddle Syndrome	Pulmonary fibrosis	OMIM:611943
Whim Syndrome	Sinusitis, Severe periodontitis, Lymphadenitis, Abnormal neutrophil morphology, Sepsis, Papilloma...	ORPHA:51636
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Sepsis, Uveitis, Inflammation of the large intestine, Colitis, Conjunctivitis...	OMIM:614700
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bi...	OMIM:613027
Agammaglobulinemia 4, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ...	OMIM:613502
Aortic Arch Interruption	Respiratory distress, Bicuspid aortic valve, Tachypnea, Aortic valve atresia, Aortopulmonary wind...	ORPHA:2299
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Hypoplasia of the uterus, Azoo...	OMIM:614837
Pendred Syndrome	Hypothyroidism, Hyperparathyroidism, Thyroid carcinoma, Goiter	ORPHA:705
Fibrous Dysplasia Of Bone	Abnormal tibia morphology, Bone pain, Abnormal femur morphology, Coxa vara, Thyroid carcinoma, Ne...	ORPHA:249
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonadoblastoma, Abnormal va...	OMIM:194072
Corticosterone Methyloxidase Type Ii Deficiency	Hyponatremia, Hyperkalemia, Increased circulating renin level, Renal salt wasting	OMIM:610600
Somatostatinoma	Anorexia, Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortic...	ORPHA:97283
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant	Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Elevated circulating creatine k...	OMIM:618655
Mitochondrial Complex I Deficiency, Nuclear Type 37	Respiratory distress, Skeletal muscle atrophy, Inguinal hernia, Growth delay, Bradycardia, Pulmon...	OMIM:619272
Vipoma	Anorexia, Hepatomegaly, Follicular thyroid carcinoma, Intermittent jaundice, Neoplasm of the live...	ORPHA:97282
Pulmonary Blastoma	Weight loss	ORPHA:64741
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome	Failure to thrive, Palmoplantar keratoderma, Aspiration pneumonia	OMIM:609528
Infantile-Onset X-Linked Spinal Muscular Atrophy	Respiratory distress, Hip contracture, Skeletal muscle atrophy, Interphalangeal joint contracture...	ORPHA:1145
Estrogen Resistance Syndrome	Enlarged polycystic ovaries, Increased circulating gonadotropin level, Primary amenorrhea, Hypopl...	ORPHA:785
Abdominal Obesity-Metabolic Syndrome 4	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Myocardia...	OMIM:618620
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Elevated circulati...	ORPHA:572333
Rothmund-Thomson Syndrome Type 2	Osteopenia, Aplastic anemia, Patellar hypoplasia, Squamous cell carcinoma, Neutropenia, Sparse ha...	ORPHA:221016
Primary Hyperoxaluria Type 3	Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri...	ORPHA:93600
Cog4-Cdg	Hypercholesterolemia, Thrombocytopenia, Hepatosplenomegaly	ORPHA:263501
Hyperaldosteronism, Familial, Type Iv	Hypertension, Hyperaldosteronism	OMIM:617027
Leigh Syndrome	Skeletal muscle atrophy, Alopecia, Multiple joint contractures, Ventricular septal defect, Eczema...	ORPHA:506
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Aggressive behavior, Splenome...	ORPHA:905
Apparent Mineralocorticoid Excess	Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Hypokalemia, Renal so...	ORPHA:320
Pancreatic And Cerebellar Agenesis	Reduced subcutaneous adipose tissue, Failure to thrive, Diabetes mellitus, Hypoglycemia, Flexion ...	OMIM:609069
Macrophage Activation Syndrome	Increased inflammatory response, Increased circulating interleukin 6 concentration, Hypertriglyce...	ORPHA:158061
Granulomatous Disease, Chronic, X-Linked	Liver abscess, Lymphadenitis, Granulomatosis, Cough, Hepatomegaly, Atelectasis, Recurrent E. coli...	OMIM:306400
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Ascites, Hepatomegaly, Weight loss, Dysphagia	ORPHA:2198
Congenital Myopathy 10B, Mild Variant	Elbow contracture, Elevated circulating creatine kinase concentration, Reduced forced vital capac...	OMIM:620249
Sim1-Related Prader-Willi-Like Syndrome	Osteopenia, Premature adrenarche, Hypothalamic luteinizing hormone-releasing hormone deficiency, ...	ORPHA:398079
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Elevated circulating creat...	OMIM:601954
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Metaphyseal widening, Metatarsal osteolysis, Arthralgia, Camptodactyly of toe, Wrist ...	OMIM:259600
48,Xxxy Syndrome	Pulmonary embolism, Chronic otitis media, Clinodactyly of the 5th finger, Abnormal dental enamel ...	ORPHA:96263
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Hypospadias, Renal salt wasting	OMIM:201910
Short Syndrome	Inguinal hernia, Diabetes mellitus, Lipodystrophy, Abnormal dental enamel morphology, Insulin res...	ORPHA:3163
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)	Left ventricular hypertrophy	OMIM:614458
Corticosterone Methyloxidase Type I Deficiency	Hyponatremia, Hyperkalemia, Increased circulating renin level, Renal salt wasting	OMIM:203400
Undifferentiated Pleomorphic Sarcoma	Abnormal peritoneum morphology, Anorexia, Weight loss	ORPHA:2023
Bronchiolitis Obliterans With Obstructive Pulmonary Disease	Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ...	ORPHA:1303
Exercise Intolerance, Riboflavin-Responsive	Exercise intolerance, Ragged-red muscle fibers	OMIM:616839
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Hyperlipidemia, Elevated cir...	OMIM:214900
Heart Defects-Limb Shortening Syndrome	Atrial septal defect, Ventricular septal defect, Mesomelic/rhizomelic limb shortening, Disproport...	ORPHA:1354
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Cardiomegaly, Abnormal finger morphology, Aplasia of...	ORPHA:3472
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Short femur, Fractured radius, Small for gestational age, Ventricular septal defect, ...	OMIM:616897
Spongiform Encephalopathy With Neuropsychiatric Features	Neurofibrillary tangles, Gliosis	OMIM:606688
Hyperaldosteronism, Familial, Type I	Adrenal hyperplasia, Adrenogenital syndrome, Hypertension, Hyperaldosteronism, Decreased circulat...	OMIM:103900
Congenital Total Pulmonary Venous Return Anomaly	Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou...	ORPHA:99125
Cowden Syndrome 1	Hydrocele testis, Ovarian cyst, Ovarian carcinoma, Varicocele, Goiter	OMIM:158350
Cednik Syndrome	Congestive heart failure, Diffuse palmoplantar hyperkeratosis, Hypogonadism, Short stature	ORPHA:66631
Immunodeficiency, Common Variable, 4	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:613494
Angioosteohypotrophic Syndrome	Hypoplasia of the ulna, Short humerus, Abnormal trabecular bone morphology, Telangiectasia of the...	ORPHA:75508
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Tachycardia, Neutrophilia, Eosinophilia, Splenomegaly,...	ORPHA:98849
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Decreased response to growth hormone stimulation test, Synophrys, Aspiration pneumonia, Patent fo...	ORPHA:444077
Mccune-Albright Syndrome	Hyperplasia of the Leydig cells, Elevated circulating growth hormone concentration, Precocious pu...	ORPHA:562
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo...	ORPHA:70592
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Neonatal respiratory distress, Bicuspid aortic valve, Ventricular septal defect, Parachute mitral...	OMIM:265380
Hypercholesterolemia, Familial, 2	Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia	OMIM:144010
Cardiomyopathy, Familial Hypertrophic, 26	Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per...	OMIM:617047
Familial Gestational Hyperthyroidism	Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep...	ORPHA:99819
Agammaglobulinemia 2, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin...	OMIM:613500
Igg4-Related Thyroid Disease	Nodular goiter, Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland...	ORPHA:64744
Mitochondrial Neurogastrointestinal Encephalomyopathy	Elevated hepatic transaminase, Decreased muscle mass, Hypogonadotropic hypogonadism, Hypergonadot...	ORPHA:298
Sick Sinus Syndrome 1	Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br...	OMIM:608567
Complete Androgen Insensitivity Syndrome	Male infertility, Abnormal uterine cervix morphology, Elevated circulating luteinizing hormone le...	ORPHA:99429
Cholestasis-Lymphedema Syndrome	Fatigue, Hepatomegaly, Gastrointestinal hemorrhage, Portal hypertension, Abdominal pain, Splenome...	ORPHA:1414
Hyperkalemic Periodic Paralysis	Hyponatremia, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Bowel ...	ORPHA:682
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Osteopenia, Eunuchoid habitus, Small hypothenar eminence, Arachnodactyly, Joint hypermobility, Hy...	ORPHA:2463
Neutrophil Immunodeficiency Syndrome	Leukocytosis, Abnormality of neutrophil physiology	ORPHA:183707
Neutral Lipid Storage Disease With Ichthyosis	Hepatomegaly, Alopecia, Hypertriglyceridemia, Short stature, Obesity, Abnormal granulocyte morpho...	ORPHA:98907
Long Qt Syndrome 14	Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT...	OMIM:616247
Marbach-Rustad Progeroid Syndrome	Reduced subcutaneous adipose tissue, Femur fracture, Insulin resistance, Reduced bone mineral den...	OMIM:619322
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Skeletal muscle atrophy, Dilated cardiomyopathy, Flexion contracture, Myocardial fibrosis, Respir...	OMIM:253800
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s...	OMIM:602522
Factor V Excess With Spontaneous Thrombosis	Pulmonary embolism	OMIM:134400
Portal Hypertension, Noncirrhotic, 2	Elevated hepatic transaminase, Hepatomegaly, Fatigue, Epistaxis, Portal hypertension, Nodular reg...	OMIM:619463
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Congestive heart failure, Cardiomyocyte hypertrophy, Dilated cardiomyopathy, Ventricular tachycardia	OMIM:605676
Dilated Cardiomyopathy With Ataxia	Prolonged QT interval, Bilateral cryptorchidism, Muscular ventricular septal defect, Dilated card...	ORPHA:66634
Cystic Echinococcosis	Ovarian cyst, Renal cyst, Hepatic cysts, Abnormality of the testis size	ORPHA:400
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Short stature, Hypercalcemia, Abnormal dental enamel mo...	ORPHA:251004
Pyruvate Dehydrogenase E3 Deficiency	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Elevated circulating branched cha...	ORPHA:2394
Congenital Bile Acid Synthesis Defect Type 1	Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Splenomegaly, Jaundice,...	ORPHA:79301
Hyperthyroidism, Familial Gestational	Tachycardia	OMIM:603373
Hereditary Pulmonary Alveolar Proteinosis	Abnormal circulating protein concentration, Tachycardia, Elevated carcinoembryonic antigen level	ORPHA:264675
Benign Recurrent Intrahepatic Cholestasis	Elevated hepatic transaminase, Anorexia, Jaundice, Weight loss, Acholic stools, Cholestatic liver...	ORPHA:65682
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Hypothermia, Congenital hypothyroidism, Decreased circulating T4 concentration, Umbilical hernia,...	ORPHA:226313
Immunodeficiency, Common Variable, 3	Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Decrease...	OMIM:613493
Aromatase Deficiency	Eunuchoid habitus, Hypergonadotropic hypogonadism, Enlarged polycystic ovaries, Insulin resistanc...	ORPHA:91
X-Linked Acrogigantism	Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,...	ORPHA:300373
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Tachypnea, Reduced bone mineral density, Hypoalbuminemia, Hypocalcemia, Cough, Emphys...	OMIM:613658
Silver-Russell Syndrome	Failure to thrive in infancy, Sandal gap, Cachexia, Precocious puberty, Cryptorchidism, Insulin r...	ORPHA:813
Adrenocortical Carcinoma	Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ...	ORPHA:1501
Chronic Visceral Acid Sphingomyelinase Deficiency	Osteopenia, Decreased HDL cholesterol concentration, Hepatomegaly, Short stature, Autoimmune thro...	ORPHA:77293
Pulmonary Hypertension, Primary, 2	Increased pulmonary vascular resistance, Pulmonary arterial hypertension, Abnormally loud pulmoni...	OMIM:615342
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Prolonged QT interval, Sparse scalp hair, Postnatal growth retardation, 2-3 toe cutaneous syndact...	OMIM:620029
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Severe B lymphocytopenia, Sinusitis, Recurrent viral infections, Hepatomegaly, B-cell lymphoma, A...	OMIM:102700
Variant Abeta2M Amyloidosis	Amyloidosis of peripheral nerves, Hepatic amyloidosis, Cutaneous amyloidosis, Renal amyloidosis, ...	ORPHA:314652
Orthostatic Hypotension 1	Reduced circulating prolactin concentration, Increased blood urea nitrogen, Hypomagnesemia, Weakn...	OMIM:223360
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis	Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Hypocitraturia	OMIM:620374
Myopathy, Distal, 5	Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower...	OMIM:617030
Abetalipoproteinemia	Osteopenia, Decreased HDL cholesterol concentration, Cardiomegaly, Hypoalbuminemia, Hypocholester...	ORPHA:14
Immunodeficiency With Hyper-Igm, Type 1	Sepsis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Meningitis, Hemo...	OMIM:308230
Surfactant Metabolism Dysfunction, Pulmonary, 1	Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Tachypnea, Respiratory failure, Pulmonar...	OMIM:265120
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Hypopigmentation ...	OMIM:214500
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Myositis, Abnormal blood ion concentration, Sepsis, Iron deficiency anemia,...	ORPHA:37042
Alström Syndrome	Respiratory distress, Decreased response to growth hormone stimulation test, Urinary incontinence...	ORPHA:64
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete	Renal salt wasting	OMIM:613743
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Small for gestational age, Recurrent fractures, Absent oss...	OMIM:166210
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Atrial septal defect, Sparse hair, Patent foramen ovale, Hypothyroidism, Broad hallux, Short stat...	OMIM:620186
Mandibuloacral Dysplasia With Type B Lipodystrophy	Calcinosis, Hyperlipidemia, Insulin resistance, Generalized lipodystrophy, Delayed puberty	ORPHA:90154
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Recurrent respiratory infections, Eosinophilia, Craniosynostosis, Eczema, Keratitis, Increased ci...	OMIM:618523
Merrf	Multiple lipomas, Ragged-red muscle fibers, Short stature, Myopathy	ORPHA:551
Low Phospholipid-Associated Cholelithiasis	Elevated hepatic transaminase, Diabetes mellitus, Liver abscess, Cholangitis, Overweight, Intrahe...	ORPHA:69663
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Atrial septal defect, Alopecia, Bronchiectasis, Methicillin-resistant Staphylococcus aureus infec...	OMIM:618282
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2	Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, Respiratory in...	OMIM:608423
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Decreased response to growth hormone stimulation test, Synophrys, Congenital malforma...	ORPHA:3455
Epilepsy, Idiopathic Generalized, Susceptibility To, 18	Bradycardia	OMIM:619521
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Severe varicella zoster infection, Lymphadenitis, Sepsis, Leukopenia, T lymphocytopenia, Neutrope...	OMIM:618986
Diamond-Blackfan Anemia	Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten...	ORPHA:124
Gitelman Syndrome	Polyuria, Renal magnesium wasting, Enuresis, Hypokalemia, Increased circulating renin level, Hypo...	OMIM:263800
X-Linked Agammaglobulinemia	Sinusitis, Abnormal lung morphology, Sepsis, Neoplasm, Conjunctivitis, Hypocalcemia, Neutropenia,...	ORPHA:47
Multiple Endocrine Neoplasia, Type Iia	Hyperparathyroidism, Thyroid C cell hyperplasia, Hypertension, Increased circulating cortisol lev...	OMIM:171400
Celiac Disease, Susceptibility To, 1	Iron deficiency anemia, Arthralgia, Hypocalcemia, Alopecia, Short stature, Abdominal pain, Osteop...	OMIM:212750
Bardet-Biedl Syndrome 22	Hypogonadism, Polyphagia, Obesity, Large for gestational age	OMIM:617119
X-Linked Intellectual Disability, Hedera Type	Left ventricular hypertrophy, Calcaneovalgus deformity, Obesity, Hypomimic face	ORPHA:93952
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Abnormal thumb morphology, Congestive hear...	ORPHA:324410
Immunodeficiency 34	Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis	OMIM:300645
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Increased serum pyruvate, Elevated circulating dodecanoylcarnitine concentration, Elevated circul...	OMIM:619355
Prader-Willi Syndrome Due To Imprinting Mutation	Hypopigmentation of hair, Hypogonadotropic hypogonadism, Short stature, Small hand, Obesity, Shor...	ORPHA:177910
Hypothyroidism Due To Tsh Receptor Mutations	Goiter, Elevated circulating thyroid-stimulating hormone concentration, Increased radioactive iod...	ORPHA:90673
Leukocyte Adhesion Deficiency	Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Sepsis, Conjunctiv...	ORPHA:2968
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Decreased thyroid-stimulating hormone level, Abnormality of thyroid physiology, Decreased circula...	ORPHA:95715
Late-Onset Isolated Acth Deficiency	Hyponatremia, Hypoparathyroidism, Decreased circulating cortisol level, Hypoglycemia, Hypercalcem...	ORPHA:199299
Long Qt Syndrome 8	Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int...	OMIM:618447
14Q11.2 Microduplication Syndrome	Aggressive behavior, Polyphagia, Obesity, Attention deficit hyperactivity disorder, Hypothyroidism	ORPHA:261229
Immunodeficiency With Hyper-Igm, Type 2	Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Impaired Ig ...	OMIM:605258
Wiedemann-Rautenstrauch Syndrome	Secundum atrial septal defect, Flexion contracture, Hypoplasia of the thymus, Generalized amyotro...	OMIM:264090
Neutral Lipid Storage Myopathy	Hand muscle weakness, Fatty replacement of skeletal muscle, Pineal cyst, Cholecystitis, Foot dors...	ORPHA:98908
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Exercise intolerance, Sideroblastic anemia, Respiratory distress, Hepatomegaly, Respiratory insuf...	OMIM:613561
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Respiratory failure requiring assisted ventilation, Elevated circulating creatine kinase concentr...	ORPHA:90117
Fabry Disease	Angina pectoris, Transient ischemic attack, Myocardial infarction, Abdominal pain, Congestive hea...	OMIM:301500
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hepatomegaly, Hyperphosphaturia, Proteinuria, Hypouricemia, Hypophosphatemia, Nephrocalcinosis, A...	OMIM:616026
Complement Component 7 Deficiency	Recurrent Neisserial infections, Recurrent meningococcal disease	OMIM:610102
7Q11.23 Microduplication Syndrome	Congenital diaphragmatic hernia, Atrial septal defect, Chronic otitis media, Abnormal repetitive ...	ORPHA:96121
Ascher Syndrome	Hypothyroidism, Goiter	ORPHA:1253
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Hepatomegaly, Neonatal respiratory distress, Apnea, Cardiomegaly, Dilated cardiomyopathy, Increas...	OMIM:608836
Kniest Dysplasia	Hip contracture, Inguinal hernia, Enlarged joints, Dumbbell-shaped long bone, Abnormal cartilage ...	OMIM:156550
Childhood-Onset Spasticity With Hyperglycinemia	Left ventricular hypertrophy, Nonketotic hyperglycinemia	ORPHA:401866
Autosomal Agammaglobulinemia	Fatigue, Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin in...	ORPHA:33110
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type	Peroneal muscle atrophy, Z-band streaming, Shoulder girdle muscle atrophy, Talipes equinovarus, D...	OMIM:181400
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Hepatomegaly, Liver absces...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Hepatomegaly, Liver absces...	OMIM:233710
Linear Skin Defects With Multiple Congenital Anomalies 3	Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Ven...	OMIM:300952
Primary Hepatic Neuroendocrine Carcinoma	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chr...	ORPHA:100085
Atrial Standstill 2	Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Dy...	OMIM:615745
Q Fever	Respiratory distress, Anorexia, Abnormal left ventricular function, Cholecystitis, Cough, Meningi...	ORPHA:781
X-Linked Sideroblastic Anemia	Elevated hepatic transaminase, Splenomegaly, Fatigue, Dyspnea	ORPHA:75563
Brucellosis	Liver abscess, Elevated circulating C-reactive protein concentration, Bronchitis, Anorexia, Knee ...	ORPHA:1304
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Purulent rhinitis, Meningitis, Recurrent opportunistic infections, T lymphocytopenia, ...	OMIM:601457
Tetrasomy 9P	Myositis, Inappropriate behavior, Clinodactyly of the 5th finger, Intrauterine growth retardation...	ORPHA:3310
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Respiratory failure requiring assisted ventilation, Nemaline bodies, Increased variability in mus...	OMIM:620265
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Hepatomegaly, Liver absces...	OMIM:233690
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant	Scapular winging, Reduced vital capacity, Calf muscle pseudohypertrophy, Centrally nucleated skel...	OMIM:608358
Andersen-Tawil Syndrome	Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil...	ORPHA:37553
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir...	ORPHA:276152
Ovarian Fibroma	Gonadal calcification, Ovarian fibroma, Abnormality of the ovary	ORPHA:314473
Generalized Arterial Calcification Of Infancy	Respiratory distress, Medial calcification of large arteries, Adrenal calcification, Cardiomegaly...	ORPHA:51608
Neuraminidase Deficiency	Hepatomegaly, Inguinal hernia, Skeletal muscle atrophy, Short stature, Bone-marrow foam cells, Ca...	OMIM:256550
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Methylmalonic acidemia, Hypomethioninemia, Respiratory distress, Megaloblastic anemia, Pulmonary ...	ORPHA:79282
Agammaglobulinemia 6, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ...	OMIM:612692
Pituitary Adenoma 1, Multiple Types	Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul...	OMIM:102200
Juvenile Nephropathic Cystinosis	Hyponatremia, Renal insufficiency, Hypouricemia, Proteinuria, Chronic kidney disease, Elevated ci...	ORPHA:411634
Thyrocerebroretinal Syndrome	Goiter	OMIM:274240
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Refractory anemia with ringed sideroblasts, Neutropenia, Erythroid hyperplasia...	ORPHA:75564
Bardet-Biedl Syndrome 1	Syndactyly, Diabetes mellitus, Postaxial polydactyly, Nephrogenic diabetes insipidus, Postaxial h...	OMIM:209900
Hypertriglyceridemia 1	Hypopituitarism, Hypertriglyceridemia, Increased VLDL cholesterol concentration, Precocious ather...	OMIM:145750
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Ovarian cyst, Precocious puberty with Sertoli cell tumor, Uterine neoplasm	OMIM:175200
Hypophosphatemic Rickets, X-Linked Dominant	Bowing of the legs, Osteoarthritis, Bone pain, Trapezoidal distal femoral condyles, Femoral bowin...	OMIM:307800
Hypotonia-Cystinuria Syndrome	Failure to thrive, Polyphagia, Cystinuria	ORPHA:163690
49,Xxxxy Syndrome	Pulmonary embolism, Chronic otitis media, Clinodactyly of the 5th finger, Short stature, Abnormal...	ORPHA:96264
Niemann-Pick Disease, Type C2	Hepatomegaly, Neonatal respiratory distress, Low cholesterol esterification rate, Splenomegaly, J...	OMIM:607625
Noonan Syndrome 10	Curly hair, Mitral stenosis, Ventricular septal defect, Short stature, Sparse eyebrow, Cryptorchi...	OMIM:616564
Amoebiasis Due To Entamoeba Histolytica	Liver abscess, Lung abscess, Abnormal pericardium morphology, Acute colitis, Abdominal pain, Cong...	ORPHA:67
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Highly elevated creatine kinase, Hypertrophic cardiomyopathy, Tachycardia, Elevated circulating c...	ORPHA:368
15Q Overgrowth Syndrome	Contracture of the proximal interphalangeal joint of the 2nd finger, Arachnodactyly, Abnormal fin...	ORPHA:314585
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa...	OMIM:267700
Congenital Disorder Of Glycosylation, Type Im	Aspiration, Dilated cardiomyopathy, Bradycardia	OMIM:610768
Diamond-Blackfan Anemia 1	Macrocytic anemia, Tricuspid stenosis, Congenital hypoplastic anemia, Congestive heart failure, R...	OMIM:105650
Yunis-Varon Syndrome	Congenital hip dislocation, Short metatarsal, Palmoplantar hyperkeratosis, Absent hallux, Aspirat...	OMIM:216340
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Joint contracture, Inguinal hernia, Hypothermia	OMIM:614498
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Sinusitis, Sepsis, Recurrent candida infections, T lymphoc...	ORPHA:83471
Autosomal Recessive Progressive External Ophthalmoplegia	Exercise intolerance, Scapular winging, Elevated circulating creatine kinase concentration, Facia...	ORPHA:254886
Immunodeficiency 23	Recurrent staphylococcal infections, Severe varicella zoster infection, Increased circulating IgG...	OMIM:615816
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Cryptorch...	OMIM:300967
Testicular Agenesis	Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci...	ORPHA:325124
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Skin rash, Reduced natural killer...	OMIM:603553
Juvenile Polyposis Syndrome	Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Multiple lipomas, Hemangioblastoma,...	ORPHA:2929
Hypophosphatemic Rickets, Autosomal Dominant	Renal phosphate wasting, Hypophosphatemic rickets, Hypophosphatemia	OMIM:193100
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Pulmonary embolism, Abdominal pain, Hypothyroidism, Clubbing, Decreased circulating...	OMIM:226300
Riboflavin Deficiency	Hypothermia	OMIM:615026
Hyperoxaluria, Primary, Type Ii	Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria	OMIM:260000
Cole Disease	Hyperglycemia, Abnormal blood phosphate concentration	OMIM:615522
Hyperlipoproteinemia, Type I	Splenomegaly, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulating chylomi...	OMIM:238600
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Short stature, Abscess, Eczema, Perianal abscess, Splenomeg...	OMIM:618935
Lecithin:Cholesterol Acyltransferase Deficiency	Hemolytic anemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Normochromic ane...	OMIM:245900
Microlissencephaly	Pneumonia	ORPHA:1083
Congenital Myopathy 22A, Classic	Fatigue, Hip contracture, Scapular winging, Tricuspid regurgitation, Centrally nucleated skeletal...	OMIM:620351
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Failure to thrive, Skin rash, Recurrent viral infections, Recurrent mycobacterial infections, Rec...	ORPHA:275
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Neonatal respiratory distress, Short stature, Increased connective tissue, Keratitis, Scarring al...	OMIM:226670
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 5	Pulmonary fibrosis	OMIM:618674
Gnathodiaphyseal Dysplasia	Osteopenia, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, Thickened co...	ORPHA:53697
Multiple Mitochondrial Dysfunctions Syndrome 1	Respiratory insufficiency, Elevated circulating 2-hydroxybutyric acid concentration, Respiratory ...	OMIM:605711
Morgagni-Stewart-Morel Syndrome	Hypercholesterolemia, Hypertension, Hyperuricemia	ORPHA:77296
Cockayne Syndrome Type 1	Elevated hepatic transaminase, Hepatomegaly, Foot joint contracture, Scarring, Increased blood ur...	ORPHA:90321
Complement Component 8 Deficiency, Type Ii	Recurrent Neisserial infections, Meningitis	OMIM:613789
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26	Fatty replacement of skeletal muscle, Highly elevated creatine kinase, Calf muscle hypertrophy, P...	OMIM:618848
Congenital Myopathy 1B, Autosomal Recessive	Joint laxity, Recurrent respiratory infections, Skeletal muscle atrophy, Facial palsy, Increased ...	OMIM:255320
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Lymphopenia, Recurrent herpes, Eosinophilia, Pneumonia, Anorexia, Recurrent pneumonia, Hepatitis,...	ORPHA:169160
Werner Syndrome	Low back pain, Diabetes mellitus, Hypertriglyceridemia, Elevated hemoglobin A1c, Short stature, O...	OMIM:277700
2Q23.1 Microdeletion Syndrome	Hyperactivity, Sandal gap, Short stature, Highly arched eyebrow, Cryptorchidism, Synophrys, Parox...	ORPHA:228402
Weiss-Kruszka Syndrome	Bicuspid aortic valve, Ventricular septal defect, Proximal placement of thumb, Highly arched eyeb...	OMIM:618619
Marfan Syndrome	Osteopenia, Skeletal muscle atrophy, Limited elbow movement, Emphysema, Arachnodactyly, Osteoporo...	ORPHA:558
Hereditary Amyloidosis With Primary Renal Involvement	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:85450
Mucopolysaccharidosis Type 3	Cardiomegaly, Synophrys, Flexion contracture, Atrioventricular block, Reduced bone mineral densit...	ORPHA:581
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased body weight, Alopecia, Acne, Osteoporosis, Increased susceptibility to fractures, Incre...	ORPHA:189427
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent bacterial skin infections, Recurrent respiratory infections, Pneumonia, Recurrent viral...	ORPHA:217390
Intermediate Nemaline Myopathy	Skeletal muscle atrophy, Facial palsy, Multiple prenatal fractures, Flexion contracture, Cardiomy...	ORPHA:171433
3Q29 Microdeletion Syndrome	Aggressive behavior, Tapered finger, Joint hyperflexibility, Attention deficit hyperactivity diso...	ORPHA:65286
Glycogen Storage Disease Ia	Hepatomegaly, Proteinuria, Hyperlipidemia, Nephrolithiasis, Focal segmental glomerulosclerosis, H...	OMIM:232200
Immunodeficiency 30	Recurrent mycobacterial infections, Recurrent infections	OMIM:614891
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Recurrent respiratory infections, Recurrent sinopulmonary infections, Recurrent ear infections, S...	OMIM:615513
Ciliary Dyskinesia, Primary, 37	Hypothyroidism, Goiter	OMIM:617577
Gilbert Syndrome	Elevated hepatic transaminase, Jaundice, Hepatic failure	OMIM:143500
Ventricular Fibrillation, Paroxysmal Familial, 2	Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction	OMIM:612956
Collagenoma, Familial Cutaneous	Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Primary testicula...	OMIM:115250
Complement Factor D Deficiency	Recurrent bacterial infections	OMIM:613912
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy	Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level	OMIM:605115
Isolated Permanent Neonatal Diabetes Mellitus	Failure to thrive, Neonatal insulin-dependent diabetes mellitus, Weight loss, Lower-limb joint co...	ORPHA:99885
Adult-Onset Still Disease	Elevated hepatic transaminase, Hepatomegaly, Fatigue, Pericarditis, Abdominal pain, Splenomegaly,...	ORPHA:829
Ethanolaminosis	Cardiomegaly	OMIM:227150
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Acanthocytosis, Decreased LDL chol...	OMIM:615558
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8	Neurofibrillary tangles, Amyotrophic lateral sclerosis, Global brain atrophy	OMIM:619132
Refsum Disease, Classic	Short fourth metatarsal, Cardiomegaly, Congestive heart failure, Elevated circulating phytanic ac...	OMIM:266500
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypoplasia of the uterus, Hypogonadotropic hypogonadism	OMIM:614842
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Decreased testicular size, Myocardial infarction, Pulmonary fibrosis	ORPHA:457240
Listeriosis	Back pain, Respiratory distress, Liver abscess, Stiff neck, Abnormal cellular immune system morph...	ORPHA:533
Satoyoshi Syndrome	Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the uterus, Abnormality of the ...	ORPHA:3130
Familial Glucocorticoid Deficiency	Hyponatremia, Decreased circulating dehydroepiandrosterone concentration, Decreased circulating c...	ORPHA:361
Blue Diaper Syndrome	Elevated hepatic transaminase, Hypercalcemia, Elevated circulating thyroid-stimulating hormone co...	ORPHA:94086
Diaphragmatic Hernia 4, With Cardiovascular Defects	Finger syndactyly, Neonatal respiratory distress, Hepatomegaly, Ventricular septal defect, Aortop...	OMIM:620025
Apparent Mineralocorticoid Excess	Small for gestational age, Hypertension, Failure to thrive, Decreased circulating aldosterone lev...	OMIM:218030
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Hypercholesterolemia	ORPHA:254531
Aredyld Syndrome	Hepatomegaly, Lipoatrophy, Abnormal dental enamel morphology, Cachexia, Splenomegaly, Type II dia...	ORPHA:1133
Fish-Eye Disease	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:136120
Lysosomal Acid Lipase Deficiency	Adrenal calcification, Bone-marrow foam cells, Precocious atherosclerosis, Vacuolated lymphocytes...	ORPHA:275761
Tetanus	Hypertension, Tachycardia, Bradycardia, Elevated circulating creatine kinase concentration	ORPHA:3299
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2	Fatigue, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Increased c...	OMIM:253601
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, P...	OMIM:618398
Solitary Fibrous Tumor	Abnormal peritoneum morphology, Hypoglycemia, Pelvic mass, Reduced C-peptide level, Weight loss, ...	ORPHA:2126
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypertriglyceridemia, Pulmonary embolism, Respiratory tract infection, Abdominal pain, Minimal ch...	ORPHA:567548
Non-Functioning Paraganglioma	Fatigue, Paraganglioma of head and neck, Hypercalcemia, Cerebral hemorrhage, Congestive heart fai...	ORPHA:94080
Williams Syndrome	Osteopenia, Bicuspid aortic valve, Elevated circulating creatine kinase concentration, Myocardial...	ORPHA:904
Renal Glucosuria	Polydipsia, Polyphagia, Glycosuria	OMIM:233100
Hurler-Scheie Syndrome	Hepatomegaly, Abnormal heart valve morphology, Splenomegaly, Cardiomyopathy, Rhinitis	ORPHA:93476
Non-Involuting Congenital Hemangioma	Telangiectasia of the skin, Perineal hemangioma, Congestive heart failure, Midfrontal capillary h...	ORPHA:141179
Primary Ciliary Dyskinesia	Atrial situs ambiguous, Asplenia, Chronic otitis media, Neonatal respiratory distress, Abnormal a...	ORPHA:244
3-Methylglutaconic Aciduria, Type Viib	Respiratory distress, Rhizomelia, Congestive heart failure, Flexion contracture, Recurrent pneumo...	OMIM:616271
Ollier Disease	Joint stiffness, Precocious puberty, Abnormal cartilage morphology, Osteolysis, Multiple enchondr...	ORPHA:296
Citrullinemia Type Ii	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp...	ORPHA:247585
Sepsis In Premature Infants	Tachycardia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, A...	ORPHA:90051
Nocardiosis	Respiratory distress, Liver abscess, Anorexia, Lymphadenitis, Nonproductive cough, Sepsis, Conjun...	ORPHA:31204
Maffucci Syndrome	Neoplasm of the adrenal cortex, Neoplasm of the parathyroid gland, Pituitary adenoma, Ovarian neo...	ORPHA:163634
Thiamine-Responsive Megaloblastic Anemia Syndrome	Ventricular septal defect, Situs inversus totalis, Cryptorchidism, Cardiomyopathy, Atrial septal ...	OMIM:249270
Acute Lung Injury	Shock, Respiratory distress, Increased circulating interleukin 6 concentration, Acute pancreatiti...	ORPHA:178320
Chronic Hiccup	Weight loss, Abnormality of the diaphragm, Abnormal eating behavior	ORPHA:396
Myotonic Dystrophy 2	Tachycardia, Elevated circulating creatine kinase concentration, Premature ventricular contractio...	OMIM:602668
Cystinosis	Fatigue, Short stature, Portal hypertension, Nephrogenic diabetes insipidus, Abnormal repetitive ...	ORPHA:213
Pyruvate Dehydrogenase E1-Alpha Deficiency	Increased serum pyruvate, Neonatal respiratory distress, Small for gestational age, Ventricular s...	ORPHA:79243
Medullary Thyroid Carcinoma	Primary hyperparathyroidism, Weight loss, Pheochromocytoma, Elevated circulating calcitonin conce...	ORPHA:1332
Hereditary Bullous Dystrophy, Macular Type	Alopecia, Congenital abnormal hair pattern, Pneumonia, Short stature, Tapered finger, Cryptorchid...	ORPHA:1867
Immunodeficiency 38 With Basal Ganglia Calcification	Recurrent mycobacterial infections	OMIM:616126
Muscular Dystrophy, Congenital Merosin-Deficient, 1A	Elevated circulating creatine kinase concentration, Respiratory insufficiency due to muscle weakn...	OMIM:607855
Thyrocerebrorenal Syndrome	Euthyroid goiter	ORPHA:3327
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Increased skull ossification, Pneumonia	ORPHA:85179
King-Denborough Syndrome	Ventricular septal defect, Elevated circulating creatine kinase concentration, Short stature, Cen...	OMIM:619542
Hydroxykynureninuria	Abnormal circulating tryptophan concentration, Tachycardia, Hypotension	ORPHA:79155
Helsmoortel-Van Der Aa Syndrome	Decreased response to growth hormone stimulation test, Pineal cyst, Short 4th toe, Compulsive beh...	OMIM:615873
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Left ventricular hypertrophy, Tachycardia, Dilated cardiomyopathy	OMIM:618321
Porphyria Variegata	Hyponatremia, Tachycardia, Abnormal circulating porphyrin concentration, Hypertension, Anemia	ORPHA:79473
Brugada Syndrome 2	Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr...	OMIM:611777
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Anterior pituitary hypoplasia, Bilateral cryptorchidism, Atrial septal defect, Clinodactyly of th...	ORPHA:466791
Myopathy, Tubular Aggregate, 1	Elevated circulating creatine kinase concentration, Flexion contracture, Respiratory insufficienc...	OMIM:160565
Obesity, Hyperphagia, And Developmental Delay	Abnormal repetitive mannerisms, Polyphagia, Obesity	OMIM:613886
Erythrokeratodermia Variabilis	Diabetes mellitus, Weight loss	ORPHA:317
Combined Oxidative Phosphorylation Deficiency 6	Increased serum pyruvate, Skeletal muscle atrophy, Respiratory insufficiency due to muscle weakne...	OMIM:300816
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Ragged-red muscle fibers, Increased variability in muscle fiber diameter, Dilated cardiomyopathy	ORPHA:70595
Intellectual Developmental Disorder, Autosomal Dominant 39	Obesity, Polyphagia, Self-mutilation, Aggressive behavior	OMIM:616521
Muscular Hypertonia, Lethal	Respiratory distress, Umbilical hernia, Pneumonia	OMIM:254120
Progressive Familial Heart Block, Type Ib	Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ...	OMIM:604559
Distal Deletion 12Q	Aplasia/Hypoplasia of the middle phalanx of the 3rd finger, Clinodactyly of the 5th finger, Paten...	ORPHA:96149
Isolated Right Ventricular Hypoplasia	Fatigue, Tricuspid regurgitation, Cyanosis, Abnormal atrioventricular conduction, Right ventricul...	ORPHA:439
Familial Expansile Osteolysis	Bowing of the long bones, Bone pain, Osteolysis, Pathologic fracture, Thin bony cortex	OMIM:174810
Waldenström Macroglobulinemia	Normocytic anemia, Gastrointestinal hemorrhage, Fatigue, Hepatomegaly, Epistaxis, Abnormality of ...	ORPHA:33226
Pituitary Gigantism	Elevated circulating growth hormone concentration, Increased circulating insulin-like growth fact...	ORPHA:99725
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Epididymitis, Increased circulating IgM level, Recurrent ...	OMIM:608106
Generalized Pustular Psoriasis	Hyponatremia, Fatigue, Elevated circulating C-reactive protein concentration, Overweight, Congest...	ORPHA:247353
Chromomycosis	Keratitis, Ankylosis, Abnormal lung morphology, Hyperparakeratosis, Osteolysis, Squamous cell car...	ORPHA:182
Autosomal Recessive Primary Microcephaly	Growth delay, Abnormal cortical bone morphology, Short stature	ORPHA:2512
Hereditary Hemorrhagic Telangiectasia	Conjunctival telangiectasia, Gastrointestinal hemorrhage, Transient ischemic attack, Epistaxis, P...	ORPHA:774
Osteogenesis Imperfecta, Type X	Osteopenia, Respiratory distress, Inguinal hernia, Short femur, Bowing of the long bones, Chronic...	OMIM:613848
Proteus-Like Syndrome	Abnormality of the parathyroid gland, Thymus hyperplasia, Polycystic ovaries	ORPHA:2969
Developmental And Epileptic Encephalopathy 78	Hypothermia	OMIM:618557
Neuroleptic Malignant Syndrome	Hyponatremia, Tachycardia, Hypertensive crisis, Elevated circulating creatine kinase concentratio...	ORPHA:94093
Arterial Calcification, Generalized, Of Infancy, 2	Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Coronary artery calcification, Cong...	OMIM:614473
Distal Myopathy With Anterior Tibial Onset	Absent muscle fiber dysferlin, Tibialis muscle weakness, Limb-girdle muscle weakness, Intrinsic h...	ORPHA:178400
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Hypothermia, Hyperhidrosis	OMIM:245400
Hemophagocytic Syndrome Associated With An Infection	Opportunistic bacterial infection, Neutropenia, Hepatomegaly, Abnormal cytokine signaling, Severe...	ORPHA:158048
Pearson Marrow-Pancreas Syndrome	Hepatomegaly, Hypercalciuria, 3-Methylglutaric aciduria, Renal Fanconi syndrome, Complex organic ...	OMIM:557000
Congenital Heart Defects, Multiple Types, 2	Aortic regurgitation, Atrial fibrillation, Ventricular septal defect, Bicuspid aortic valve, Cong...	OMIM:614980
Immunodeficiency 102	Increased circulating interleukin 6 concentration, Severe varicella zoster infection, Sepsis, Leu...	OMIM:301082
Glucagonoma	Anorexia, Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortic...	ORPHA:97280
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros...	ORPHA:85188
Mitochondrial Myopathy, Infantile, Transient	Increased serum pyruvate, Hepatomegaly, Elevated circulating creatine kinase concentration, Facia...	OMIM:500009
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Hypothermia	OMIM:610006
Citrullinemia, Type Ii, Neonatal-Onset	Decreased HDL cholesterol concentration, Conjugated hyperbilirubinemia, Microvesicular hepatic st...	OMIM:605814
Adnp Syndrome	Respiratory distress, Urinary incontinence, Oral-pharyngeal dysphagia, Abnormal finger morphology...	ORPHA:404448
Cranio-Osteoarthropathy	Eczema, Joint stiffness, Abnormal tibia morphology, Osteoarthritis, Clubbing of toes, Deviation o...	ORPHA:1525
Myopathy, Distal, 3	Split hand, Distal amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Joint contractur...	OMIM:610099
Kenny-Caffey Syndrome, Type 1	Proportionate short stature, Hypomagnesemia, Small hand, Short foot, Slender long bone, Decreased...	OMIM:244460
Lymphatic Malformation 13	Hydrocele testis, Mitral regurgitation, Atrial septal defect, Pulmonary arterial hypertension, Pa...	OMIM:620244
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Pneumonia, Recurrent upper respiratory tract infections, Atopic dermatitis, T lymphocytopenia, Na...	OMIM:618806
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Glomerulopathy, Renal insufficiency, Proteinuria, Hypoammonemia, Proximal renal tub...	ORPHA:534
Cleft Larynx, Posterior	Aspiration	OMIM:215800
Immunodeficiency 28	Recurrent mycobacterial infections	OMIM:614889
Anaplastic Thyroid Carcinoma	Nodular goiter, Weight loss, Anaplastic thyroid carcinoma, Goiter	ORPHA:142
Neutrophil Actin Dysfunction	Recurrent bacterial infections	OMIM:257150
Alzheimer Disease 9, Susceptibility To	Neurofibrillary tangles, Hippocampal atrophy, Cerebral cortical atrophy, Senile plaques	OMIM:608907
Erythrocytosis, Familial, 2	Fatigue, Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Increased hema...	OMIM:263400
Weaver Syndrome	Short fourth metatarsal, Calcaneovalgus deformity, Hypoplastic iliac wing, Prominent fingertip pa...	OMIM:277590
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Nodular goiter, Premature thelarche, Polycystic ovaries	ORPHA:371428
Glycogen Storage Disease Ib	Hepatomegaly, Proteinuria, Splenomegaly, Hyperlipidemia, Nephrolithiasis, Focal segmental glomeru...	OMIM:232220
Caroli Disease	Liver abscess, Cholangitis, Anorexia, Conjugated hyperbilirubinemia, Hepatic fibrosis, Elevated g...	ORPHA:53035
Ppoma	Anorexia, Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortic...	ORPHA:97278
Multiple Endocrine Neoplasia Type 2	Elevated urinary catecholamine level, Hypercalcemia, Elevated urinary norepinephrine level, Nephr...	ORPHA:653
Mitochondrial Complex I Deficiency, Nuclear Type 30	Congestive heart failure, Intrauterine growth retardation	OMIM:301021
Tuberculosis	Weight loss	ORPHA:3389
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyponatremia, Hyperkalemia, Renal salt wasting	OMIM:264350
Weill-Marchesani Syndrome 2	Short metacarpal, Thin bony cortex, Ventricular septal defect, Short stature, Proportionate short...	OMIM:608328
Man1B1-Cdg	Long eyebrows, Sparse eyebrow, Abnormal position of hair whorl, 2-3 toe syndactyly, Truncal obesi...	ORPHA:397941
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Autoimmune th...	OMIM:608184
Cutis Laxa, Autosomal Recessive, Type Ic	Posterolateral diaphragmatic hernia, Morgagni diaphragmatic hernia, Recurrent pneumonia, Tracheom...	OMIM:613177
Gitelman Syndrome	Maternal diabetes, Glucose intolerance, Hypocalcemia, Hashimoto thyroiditis, Salt craving, Insuli...	ORPHA:358
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Hyperactivity, Aggressive behavior, Cardiomegaly, Splenomegaly, Synophrys, Recurren...	OMIM:252920
Pheochromocytoma/Paraganglioma Syndrome 3	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:605373
Desminopathy	Supraventricular arrhythmia, Sudden cardiac death, Respiratory insufficiency due to muscle weakne...	ORPHA:98909
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyrotoxicosis with toxic sing...	ORPHA:79102
Hughes-Stovin Syndrome	Pulmonary embolism, Dyspnea, Vasculitis, Cardiorespiratory arrest, Cough, Pulmonary arterial hype...	ORPHA:228116
Osteopetrosis With Renal Tubular Acidosis	Hepatomegaly, Pancytopenia, Short stature, Elevated circulating creatine kinase concentration, Re...	ORPHA:2785
Riddle Syndrome	Conjunctival telangiectasia, Pneumonia, Bronchitis, Abdominal pain, Intraventricular hemorrhage, ...	ORPHA:420741
Tsh-Secreting Pituitary Adenoma	Osteopenia, Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Fa...	ORPHA:91347
Wolman Disease	Hepatomegaly, Adrenal calcification, Cachexia, Splenomegaly, Ascites, Adrenal insufficiency, Stea...	ORPHA:75233
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Recurrent fractures, Congestive heart failure, Visceral angiomatosis, Reduced bone mineral densit...	ORPHA:137608
Senior-Boichis Syndrome	Thickening of the tubular basement membrane, Chronic kidney disease, Renal atrophy, Renal hypopla...	ORPHA:84081
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Epistaxis, Splenomegaly, L...	OMIM:612840
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent viral infections, Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, H...	ORPHA:911
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Lower limb muscle weakness, Respiratory insufficiency due to muscle weakness, Flexion contracture...	ORPHA:2590
Myopathic Ehlers-Danlos Syndrome	Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Flexion cont...	ORPHA:536516
Combined Immunodeficiency, X-Linked	Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo...	OMIM:312863
Hypophosphatemic Rickets, Autosomal Recessive, 2	Hypophosphatemic rickets, Hyperphosphaturia, Medullary nephrocalcinosis	OMIM:613312
Ohdo Syndrome, Sbbys Variant	Cryptorchidism, Dilated cardiomyopathy	OMIM:603736
Autosomal Recessive Cutis Laxa Type 1	Joint laxity, Inguinal hernia, Recurrent urinary tract infections, Abnormal cardiac ventricular f...	ORPHA:90349
Myasthenic Syndrome, Congenital, 14	Scapular winging, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Distal...	OMIM:616228
Proteus Syndrome	Decreased muscle mass, Pulmonary embolism, Neoplasm of the thymus, Abnormal finger morphology, Ab...	ORPHA:744
Glycogen Storage Disease Ic	Hepatomegaly, Cyclic neutropenia, Spider hemangioma, Chronic pancreatitis, Hepatoblastoma, Hyperl...	OMIM:232240
Hec Syndrome	Vaginal hydrocele, Respiratory insufficiency, Cardiomyopathy, Endocardial fibroelastosis, Arrhythmia	ORPHA:2119
Immunodeficiency 60 And Autoimmunity	Splenomegaly, Recurrent sinopulmonary infections, Bronchiectasis, Pulmonary fibrosis	OMIM:618394
Congenital Analbuminemia	Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Low pulse pressure, Hypercholesterolem...	ORPHA:86816
Bethlem Myopathy	Multiple joint contractures, Reduced muscle collagen VI, Elevated circulating creatine kinase con...	ORPHA:610
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Pneumocystis jirovecii pneumonia, Pneumonia, Recurrent upper respiratory tract infections, Recurr...	OMIM:614069
Genetic Transient Congenital Hypothyroidism	Abnormal radioactive iodine uptake test result, Hypothermia, Thyroid defect in oxidation and orga...	ORPHA:226316
46,Xx Sex Reversal 2	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal...	OMIM:278850
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Pure red cell aplasia, Sepsis, Recurrent candida infections, Inflammation of ...	ORPHA:436159
6Q16 Microdeletion Syndrome	Tapered finger, Obesity, Abnormal temper tantrums, Polyphagia, Thick eyebrow	ORPHA:171829
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ...	OMIM:616278
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Hyperactivity, Polyphagia, Inappropriate laughter, Obesity	ORPHA:411515
Sting-Associated Vasculopathy, Infantile-Onset	Recurrent respiratory infections, Raynaud phenomenon, Tachypnea, Telangiectasia, Arthralgia, Pulm...	OMIM:615934
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Craniosynostosis, Cardiomegaly, Obesity, Congenital hypothyroidism, Colitis, Hypoalbuminemia	ORPHA:88643
Isolated Thyroid-Stimulating Hormone Deficiency	Hypercholesterolemia, Hypothermia, Decreased circulating T4 concentration, Pituitary hypothyroidi...	ORPHA:90674
Dysbetalipoproteinemia	Accelerated atherosclerosis, Decreased HDL cholesterol concentration, Acute pancreatitis, Diabete...	ORPHA:412
Fusariosis	Fasciitis, Sinusitis, Myositis, Abnormality of the spleen, Neutropenia, Brain abscess, Maculopapu...	ORPHA:228119
Pick Disease Of Brain	Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition	OMIM:172700
Carcinoid Syndrome	Elevated hepatic transaminase, Tricuspid regurgitation, Right ventricular failure, Asthma, Night ...	ORPHA:100093
Mulibrey Nanism	Hepatomegaly, Cachexia	ORPHA:2576
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:208920
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Pericardial effusion, Cryptorchidism, Elevated circulating th...	OMIM:618183
Stüve-Wiedemann Syndrome	Osteopenia, Respiratory distress, Apnea, Micromelia, Metaphyseal widening, Flexion contracture, K...	ORPHA:3206
Combined Oxidative Phosphorylation Deficiency 3	Hepatomegaly, Dyspnea, Dilated cardiomyopathy, Rhabdomyolysis, Concentric hypertrophic cardiomyop...	OMIM:610505
Aneurysm-Osteoarthritis Syndrome	Osteoarthritis, Knee osteoarthritis, Abdominal aortic aneurysm, Joint laxity, Arachnodactyly, Ost...	ORPHA:284984
Portal Hypertension, Noncirrhotic, 1	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:617068
Carnitine-Acylcarnitine Translocase Deficiency	Elevated circulating acylcarnitine concentration, Ventricular tachycardia, Hyperammonemia, Cardio...	ORPHA:159
Carney Triad	Gastrointestinal hemorrhage, Tachycardia, Hypertension, Arrhythmia, Anemia	ORPHA:139411
Familial Atrial Myxoma	Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Pulmonic valve myxoma, Cardiac m...	ORPHA:615
Adams-Oliver Syndrome 1	Bicuspid aortic valve, Ventricular septal defect, Hypertension, Hypoplastic left heart, Pulmonic ...	OMIM:100300
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Recurrent viral infections, Lymphadenitis, Decreased proportion of CD3-pos...	ORPHA:331206
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Congestive heart failure, Cardiomegaly	OMIM:300886
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	ORPHA:228305
Immunodeficiency 36 With Lymphoproliferation	Lymphopenia, Short stature, Persistent CMV viremia, B-cell lymphoma, Splenomegaly, Recurrent uppe...	OMIM:616005
Cebalid Syndrome	Thick eyebrow, Congenital diaphragmatic hernia, Polyphagia, Highly arched eyebrow	OMIM:618774
Spondyloepiphyseal Dysplasia Tarda	Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux, Limited e...	ORPHA:93284
Monosomy 13Q34	Insulin resistance, Hepatic steatosis, Hypercalcemia, Obesity	ORPHA:96168
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ...	OMIM:606843
Congenital Myopathy 20	Skeletal muscle atrophy, Scapular winging, Ulnar deviation of the hand, Elbow contracture, Toe jo...	OMIM:620310
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo...	ORPHA:75565
Cardiac Valvular Dysplasia, X-Linked	Aortic regurgitation, Joint laxity, Tricuspid regurgitation, Bicuspid aortic valve, Joint stiffne...	OMIM:314400
Ataxia-Oculomotor Apraxia 4	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Conjugated ...	OMIM:607765
Geleophysic Dysplasia 1	Osteopenia, Hepatomegaly, Mitral stenosis, Camptodactyly of finger, Tricuspid stenosis, Coxa valg...	OMIM:231050
Hermansky-Pudlak Syndrome 4	Epistaxis, Pulmonary fibrosis, Restrictive ventilatory defect	OMIM:614073
Phosphoribosylpyrophosphate Synthetase Superactivity	Hypertension, Arrhythmia, Cardiomyopathy	ORPHA:3222
Indolent Systemic Mastocytosis	Hepatomegaly, Maculopapular exanthema, Skin rash, Hematological neoplasm, Splenomegaly, Osteoporo...	ORPHA:98848
Proximal Spinal Muscular Atrophy	Skeletal muscle atrophy, Multiple joint contractures, Recurrent infections due to aspiration, Qua...	ORPHA:70
Zollinger-Ellison Syndrome	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Multiple lipomas, Elevated circulating...	ORPHA:913
Sudden Infant Death-Dysgenesis Of The Testes Syndrome	Cryptorchidism, Hypothermia	ORPHA:168593
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Cholangitis,...	OMIM:209920
Legionnaires Disease	Anorexia, Abnormal lung morphology, Sepsis, Arthralgia, Cough, Infectious encephalitis, Hyponatre...	ORPHA:549
Short Qt Syndrome 2	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul...	OMIM:609621
Bronchogenic Cyst	Back pain, Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Abdominal pain, Chronic infecti...	ORPHA:2357
Behçet Disease	Myositis, Myocardial infarction, Pulmonary embolism, Anorexia, Arthralgia, Meningitis, Infectious...	ORPHA:117
Bile Acid Synthesis Defect, Congenital, 2	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Intrahepatic cholestasis, Jaundic...	OMIM:235555
Congenital Rubella Syndrome	Atrial septal defect, Hepatomegaly, Ventricular septal defect, Skin rash, Short stature, Splenome...	ORPHA:290
Pleural Mesothelioma	Hepatomegaly, Weight loss, Dysphagia	ORPHA:50251
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Calf muscle hypertrophy, Cardiomyopathy, Myopathy, Pelvic girdle muscle weakness, Increased varia...	ORPHA:119
Primary Triglyceride Deposit Cardiomyovasculopathy	Elevated circulating creatine kinase concentration, Vacuolated lymphocytes, Increased muscle lipi...	ORPHA:565612
Blau Syndrome	Large vessel vasculitis, Arthralgia, Posterior uveitis, Abnormal salivary gland morphology, Facia...	ORPHA:90340
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Tegumentary leishmaniasis susceptibility, Pneumonia, Recurrent mycobacterial infections, BCGosis,...	ORPHA:319552
Autosomal Dominant Cutis Laxa	Osteopenia, Aortic regurgitation, Inguinal hernia, Joint laxity, Postnatal growth retardation, Co...	ORPHA:90348
Inclusion Body Myositis	Inflammatory myopathy, Rimmed vacuoles, Dysphagia	OMIM:147421
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Hyperactivity, Short stature, Anorexia, Aggressive behavior, Congestive heart failure, Abnormal f...	ORPHA:3077
Hyperaldosteronism, Familial, Type Ii	Hypertension, Hyperaldosteronism	OMIM:605635
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Elevated circulatin...	OMIM:251880
Granulomatosis With Polyangiitis	Sinusitis, Arthralgia, Cough, Fatigue, Abdominal pain, Vasculitis, Chronic pulmonary obstruction,...	ORPHA:900
Denys-Drash Syndrome	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ...	OMIM:194080
Long Qt Syndrome 16	Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia	OMIM:618782
Tyrosinemia, Type I	Hypertyrosinemia, Hepatomegaly, Renal insufficiency, Elevated circulating alpha-fetoprotein conce...	OMIM:276700
Familial Thrombocytosis	Transient ischemic attack, Splenomegaly, Syncope, Cerebral ischemia, Pulmonary arterial hypertension	ORPHA:71493
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Failure to thrive, Abnormal ci...	ORPHA:79303
Familial Pancreatic Carcinoma	Elevated hepatic transaminase, Pancreatic adenocarcinoma, Diabetes mellitus, Anorexia, Jaundice, ...	ORPHA:1333
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Hyperinsulinemia	ORPHA:66518
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3	Skeletal muscle atrophy, Scapular winging, Elevated circulating creatine kinase concentration, Ra...	OMIM:617069
Al Amyloidosis	Fatigue, Hepatomegaly, Abnormal EKG, Gastrointestinal hemorrhage, Nonproductive cough, Dyspnea, J...	ORPHA:85443
Myopathy, Sarcoplasmic Body	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Centrally nucleated ...	OMIM:620286
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Back pain, Bicuspid aortic valve, Synophrys, Tics, Compulsive behaviors, Otitis media, Abnormal r...	OMIM:619475
Sweet Syndrome	Predominantly dermal neutrophilic infiltrate, Increased circulating interleukin 6 concentration, ...	ORPHA:3243
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Abnormality of the spleen, Bacterial endocarditis, Hepatosplenomegaly, Azoospermia, Pulmonary fib...	ORPHA:2072
Myofibrillar Myopathy 11	Fatigue, Centrally nucleated skeletal muscle fibers, Overweight, Reduced forced vital capacity, Z...	OMIM:619178
Immunodeficiency 11B With Atopic Dermatitis	Eosinophilia, Pneumonia, Asthma, Increased circulating IgE level, Bronchiectasis, Atopic dermatit...	OMIM:617638
Alzheimer Disease 4	Neurofibrillary tangles, Senile plaques, Cerebral amyloid angiopathy	OMIM:606889
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Hepatomegaly, Short stature, Epistaxis, Conjugated hyperbilirubinemia, Splenomegaly, ...	OMIM:211600
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Bro...	OMIM:619381
American Trypanosomiasis	Hepatomegaly, Skin rash, Abdominal pain, Myocarditis, Splenomegaly, Congestive heart failure, Dys...	ORPHA:3386
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Skeletal muscle atrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Dilated ca...	OMIM:607459
Alveolar Echinococcosis	Liver abscess, Cholangitis, Cough, Fatigue, Abnormal pericardium morphology, Portal hypertension,...	ORPHA:284
Cd8 Deficiency, Familial	Recurrent respiratory infections, Recurrent viral infections, Absence of CD8-positive T cells, Br...	OMIM:608957
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib...	OMIM:613812
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Gastrointestinal hemorrhage, Skin rash, Pneumonia, Avascular necrosis of the c...	ORPHA:247691
Emery-Dreifuss Muscular Dystrophy 1, X-Linked	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, First degree atriove...	OMIM:310300
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Reduced vital capacity, Scapular winging, Elevated circulating creatine kinase concentration, Qua...	OMIM:603689
Cutis Laxa, Autosomal Recessive, Type Iid	Reduced subcutaneous adipose tissue, Inguinal hernia, Hypoplastic right heart, Bilateral cryptorc...	OMIM:617403
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Decreased response to growth hormone stimulation test, Decreased circulating parathyroid hormone ...	OMIM:241410
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Hypertension, Tachycardia	OMIM:613870
Frank-Ter Haar Syndrome	Osteopenia, Secundum atrial septal defect, Short palm, Atrial septal defect, Patent foramen ovale...	OMIM:249420
Microtriplication 11Q24.1	Short stature, Metatarsus adductus, Synophrys, Hyperlipidemia, Small hand, Obesity, Limitation of...	ORPHA:289522
Florid Cemento-Osseous Dysplasia	Abnormal trabecular bone morphology, Multiple bony cystic lesions, Chronic infection, Mandibular ...	ORPHA:83451
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Skeletal muscle atrophy, Neonatal respiratory distress, Spinal muscular atrophy, Multiple prenata...	OMIM:616867
Steinert Myotonic Dystrophy	Skeletal muscle atrophy, Decreased response to growth hormone stimulation test, Oral-pharyngeal d...	ORPHA:273
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Multiple pulmonary cysts, Hepatomegaly, Hypertriglyceridemia, Failure to thrive...	OMIM:619418
Intellectual Developmental Disorder, Autosomal Dominant 1	Sandal gap, Short stature, Highly arched eyebrow, Recurrent ear infections, Aggressive behavior, ...	OMIM:156200
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Fused labia majora, Abnormality of male external genitalia, Adrenal hyperplasia, Abnormal externa...	ORPHA:95699
Loeys-Dietz Syndrome 3	Bicuspid aortic valve, Osteoarthritis, Knee osteoarthritis, Sudden death, Atrial septal defect, A...	OMIM:613795
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Elevated circulating creatine kinase concentration, Cardiac arrest, Elevated circulating acylcarn...	OMIM:616878
Idiopathic Chronic Eosinophilic Pneumonia	Crackles, Hypersensitivity pneumonitis, Atelectasis, Night sweats, Nonproductive cough, Dyspnea, ...	ORPHA:2902
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Hepatomegaly, Pneumonia, Recurrent viral infections, Splenomegaly, Recurrent my...	ORPHA:169090
Congenital Fiber-Type Disproportion Myopathy	Congenital hip dislocation, Flexion contracture, Knee flexion contracture, Aspiration pneumonia, ...	ORPHA:2020
Omenn Syndrome	Hepatomegaly, Alopecia, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Recurrent viral infect...	OMIM:603554
Early-onset Alzheimer disease with cerebral amyloid angiopathy	Neurofibrillary tangles, Senile plaques	DECIPHER:48
Laron Syndrome	Hypercholesterolemia	ORPHA:633
Omenn Syndrome	Hepatomegaly, Alopecia, Failure to thrive, Eosinophilia, Pneumonia, Splenomegaly, Leukocytosis, S...	ORPHA:39041
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Decreased muscle mass, Small for gestational age, Decreased response to growth hormone stimulatio...	ORPHA:96182
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Exercise intolerance, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration...	OMIM:258450
Dermatosparaxis Ehlers-Danlos Syndrome	Osteopenia, Inguinal hernia, Severe short stature, Femoral hernia, Abnormality of subcutaneous fa...	ORPHA:1901
Myopathy, Centronuclear, 1	Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers...	OMIM:160150
Hemihyperplasia-Multiple Lipomatosis Syndrome	Hydrocele testis, Ovarian serous cystadenoma	ORPHA:276280
Juvenile Neuronal Ceroid Lipofuscinosis	Tachycardia	ORPHA:79264
Grfoma	Anorexia, Neoplasm of the thymus, Pheochromocytoma, Hepatomegaly, Intermittent jaundice, Increase...	ORPHA:97261
Complement Component 3 Deficiency, Autosomal Recessive	Recurrent bacterial infections, Recurrent pneumonia, Membranoproliferative glomerulonephritis, Re...	OMIM:613779
Mannosidosis, Alpha B, Lysosomal	Hepatomegaly, Inguinal hernia, Splenomegaly, Vacuolated lymphocytes, Low anterior hairline, Decre...	OMIM:248500
Autoimmune Pulmonary Alveolar Proteinosis	Fatigue, Crazy paving pattern, Crackles, Dyspnea, Intraalveolar phospholipid accumulation, Hypoxe...	ORPHA:747
Ciliary Dyskinesia, Primary, 9	Neonatal respiratory distress, Pneumonia, Situs inversus totalis, Absent outer dynein arms, Bronc...	OMIM:612444
Alpha-Mannosidosis, Infantile Form	Osteopenia, Cortical thickening of long bone diaphyses, Otitis media, Hypoplastic inferior ilia, ...	ORPHA:309282
Kleine-Levin Syndrome	Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio...	ORPHA:33543
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Respiratory distress, Hepatomegaly, Splenomegaly, Arthralgia, Pulmonary fibrosis	OMIM:612852
Mucopolysaccharidosis, Type X	Aortic regurgitation, Thickened aortic valve cusp, Disproportionate short-trunk short stature, Ge...	OMIM:619698
Cholestasis, Intrahepatic, Of Pregnancy, 1	Elevated hepatic transaminase, Intrahepatic cholestasis, Jaundice, Abnormal liver function tests ...	OMIM:147480
Acute Adrenal Insufficiency	Hyponatremia, Decreased circulating cortisol level, Salt craving, Hypoglycemia, Hypercalcemia, An...	ORPHA:95409
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pappenheimer bodies, Sideroblastic anemia, Failure to thrive, Exercise intolerance, Scapular wing...	OMIM:600462
Cernunnos-Xlf Deficiency	Recurrent viral infections, Thrombocytopenia, Decreased circulating antibody level, Growth delay,...	ORPHA:169079
Singleton-Merten Syndrome 1	Osteopenia, Hypoplastic distal radial epiphyses, Cardiomegaly, Subvalvular aortic stenosis, Muscl...	OMIM:182250
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Rhabdomyolysis, Ragg...	OMIM:617070
Leishmaniasis	Elevated hepatic transaminase, Hepatomegaly, Anorexia, Splenomegaly, Weight loss, Hypoalbuminemia	ORPHA:507
Mandibuloacral Dysplasia With Type A Lipodystrophy	Insulin resistance, Hyperlipidemia, Flexion contracture	ORPHA:90153
Beckwith-Wiedemann Syndrome	Ureteral duplication, Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Cardiom...	ORPHA:116
Atrial Fibrillation, Familial, 14	ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval	OMIM:615378
Ficolin 3 Deficiency	Necrotizing enterocolitis, Recurrent Staphylococcus aureus infections, Recurrent abscess formatio...	OMIM:613860
Chromosome 17Q12 Deletion Syndrome	Multicystic kidney dysplasia, Cryptorchidism, Renal cyst, Ovarian cyst, Aplasia of the vagina, Ap...	OMIM:614527
Inclusion Body Myopathy And Brain White Matter Abnormalities	Low back pain, Scapular winging, Proximal muscle weakness in upper limbs, Elevated circulating cr...	OMIM:619733
Marinesco-Sjogren Syndrome	Skeletal muscle atrophy, Short metacarpal, Hypergonadotropic hypogonadism, Elevated circulating c...	OMIM:248800
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Inguinal hernia, Small for gestational age, Bicuspid aortic valve, Highly arched eyebrow, Mitral ...	OMIM:220111
Oculopharyngeal Muscular Dystrophy	Elevated circulating creatine kinase concentration, Abnormal muscle fiber morphology, Ragged-red ...	ORPHA:270
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Fever, Hip contracture, Abnormality of temperature regulation, Hypothermia, Recurrent pneumonia, ...	OMIM:618493
Congenital Disorder Of Glycosylation, Type Iif	Aortic regurgitation, Macrothrombocytopenia, Recurrent bacterial infections, Neutropenia, Clinoda...	OMIM:603585
Immunodeficiency 58	Colitis, Chronic otitis media, Fatigue, Recurrent cutaneous abscess formation, Short stature, Chr...	OMIM:618131
Spinal Arteriovenous Metameric Syndrome	Fatigue, Cutaneous angiolipomas, Congestive heart failure, Visceral angiomatosis, Bone pain, Arth...	ORPHA:53721
X-Linked Centronuclear Myopathy	Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve...	ORPHA:596
Proprotein Convertase 1/3 Deficiency	Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi...	OMIM:600955
Lenz-Majewski Hyperostotic Dwarfism	Abnormal finger morphology, Symphalangism affecting the phalanges of the hand, Short palm, Elbow ...	ORPHA:2658
Oculopharyngodistal Myopathy 2	Elevated circulating creatine kinase concentration, Fatty replacement of skeletal muscle, Increas...	OMIM:618940
Zygomycosis	Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Neutropenia, Cough, Infectious encepha...	ORPHA:73263
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Joint laxity, Centrally nucleated skeletal muscle fibers, Reduced forced vital capacity, Respirat...	OMIM:617066
Hyperparathyroidism, Transient Neonatal	Ovarian cyst, Hyperparathyroidism	OMIM:618188
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Oste...	ORPHA:289176
Woodhouse-Sakati Syndrome	Osteopenia, Streak ovary, Dystonia, Decreased response to growth hormone stimulation test, Insuli...	ORPHA:3464
Atransferrinemia	Congestive heart failure, Hypochromic anemia, Atransferrinemia	OMIM:209300
Familial Hypoaldosteronism	Hyponatremia, Decreased urinary potassium, Renal salt wasting, Hyperkalemia, Proximal renal tubul...	ORPHA:427
Short Qt Syndrome 7	Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation	OMIM:620231
Menkes Disease	Sparse hair, Alopecia, Brittle hair, Hypothermia	OMIM:309400
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Camptodactyly of finger, Elevated circulating creatine kinase concentration, Ankle flexion contra...	OMIM:617072
Cholestasis, Progressive Familial Intrahepatic, 8	Portal hypertension, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbiliru...	OMIM:619662
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Cystic renal dysplasia, Enlarged kidney	OMIM:615415
Mercury Poisoning	Hypertension, Hypokalemia, Tachycardia, Hypotension	ORPHA:330021
X-Linked Hypophosphatemia	Bowing of the legs, Generalized osteosclerosis, Bone pain, Trapezoidal distal femoral condyles, E...	ORPHA:89936
Renal And Mullerian Duct Hypoplasia	Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus	OMIM:266810
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion	Joint laxity, Skeletal muscle atrophy, Reduced vital capacity, Ankle flexion contracture, Central...	OMIM:617760
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Abnormal blood ion concentration, Sepsis, Gastrointestinal inflammation, Sq...	ORPHA:79404
Hennekam-Beemer Syndrome	Fatigue, Telangiectasia of the skin, Pneumonia, Camptodactyly of finger, Abdominal pain, Short st...	ORPHA:2135
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Urethral atresia, Hydronephrosis, Enlarged kidney	OMIM:314390
Atrial Tachyarrhythmia With Short Pr Interval	Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho...	OMIM:108950
Alzheimer Disease, Familial Early-Onset, With Coexisting Amyloid And Prion Pathology	Neurofibrillary tangles, Senile plaques	OMIM:605055
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Hypothermia	OMIM:616501
Renal Nutcracker Syndrome	Orthostatic hypotension, Syncope, Tachycardia, Anemia	ORPHA:71273
Congenital Myopathy 15	Osteopenia, Tricuspid regurgitation, Reduced forced vital capacity, Fatty replacement of skeletal...	OMIM:620161
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Recu...	OMIM:263000
Shigellosis	Anorexia, Abnormal blood ion concentration, Sepsis, Uveitis, Hypovolemic shock, Conjunctivitis, A...	ORPHA:810
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Bicuspid aortic valve, Neoplasm, Compulsive behaviors, Otitis media, Atrial septal defect, Abnorm...	ORPHA:353281
Myopathy, Distal, Tateyama Type	Elevated circulating creatine kinase concentration, Hand muscle weakness, Centrally nucleated ske...	OMIM:614321
Pheochromocytoma	Tachycardia, Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension,...	OMIM:171300
Porphyria Cutanea Tarda	Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Viral hepatitis, Dia...	ORPHA:101330
Immunodeficiency 35	Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,...	OMIM:611521
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Cerebral vasculitis, Hypothyroidism, Hashimoto thyroiditis, Goiter	ORPHA:83601
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Hyperkalemia, Renal salt wasting	OMIM:614736
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive	Vitreous hemorrhage, Pulmonary embolism	OMIM:612304
Mu-Heavy Chain Disease	Splenomegaly, Hepatomegaly, Weight loss	ORPHA:100024
Oculopharyngodistal Myopathy 3	Internally nucleated skeletal muscle fibers, Elevated circulating creatine kinase concentration, ...	OMIM:619473
Pheochromocytoma/Paraganglioma Syndrome 1	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:168000
Autoimmune Hepatitis	Elevated hepatic transaminase, Viral hepatitis, Gastrointestinal hemorrhage, Diffuse hepatic stea...	ORPHA:2137
Focal Dermal Hypoplasia	Congenital diaphragmatic hernia, Papilloma, Hernia, Finger syndactyly, Alopecia, Abnormal dental ...	ORPHA:2092
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Reduced vital capacity, Cryptorchidism, Flexion contracture, Respiratory insufficiency, Arthrogry...	ORPHA:178148
Diaphanospondylodysostosis	Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cystic renal dysplasia, Enlarged kidney	OMIM:608022
Müllerian Aplasia And Hyperandrogenism	Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary, Primary amenorrhea	ORPHA:247768
Spondyloenchondrodysplasia	Decreased response to growth hormone stimulation test, Bowing of the legs, Juvenile rheumatoid ar...	ORPHA:1855
1P36 Deletion Syndrome	Abnormality of the spleen, Clinodactyly of the 5th finger, Abnormal repetitive mannerisms, Hypoth...	ORPHA:1606
Congenital Myasthenic Syndromes With Glycosylation Defect	Joint laxity, Scapular winging, Elevated circulating creatine kinase concentration, Facial palsy,...	ORPHA:353327
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent enteroviral i...	OMIM:307200
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear...	ORPHA:216694
Peutz-Jeghers Syndrome	Enlarged polycystic ovaries, Cervix cancer, Pancreatic adenocarcinoma, Multiple renal cysts	ORPHA:2869
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Osteoporosis, Recurrent aspiration pneumonia, Attention deficit hyperactivity disorder	OMIM:619971
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Pneumonia, Glomerulonephritis, Plasmacytosis, Increased circulating ...	OMIM:247800
Atrial Fibrillation, Familial, 7	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad...	OMIM:612240
Tangier Disease	Accelerated atherosclerosis, Hypertriglyceridemia, Carotid artery stenosis, Abdominal pain, Hepat...	ORPHA:31150
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Nephrocalcinosis, Hypercalciuria, Renal dysplasia	OMIM:300990
Mitochondrial Complex I Deficiency, Nuclear Type 33	Small for gestational age, Apnea, Bronchiectasis, Hyperammonemia, Dysphagia, Respiratory insuffic...	OMIM:618253
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Failure to thrive in infancy, Glucocortocoid-insensitive primary hyperaldosteronism...	ORPHA:171876
Atrial Septal Defect 6	Atrial fibrillation, Bradycardia	OMIM:613087
Hydrops Fetalis, Nonimmune	Congestive heart failure, Anemia	OMIM:236750
Sick Sinus Syndrome 4	Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation...	OMIM:619464
Papular Xanthoma	Hyperlipidemia, Histiocytosis	ORPHA:158008
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, High-output congestive...	OMIM:187300
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Recurrent bacter...	OMIM:202700
Marfan Syndrome	Decreased muscle mass, Bicuspid aortic valve, Equinus calcaneus, Incisional hernia, Flexion contr...	OMIM:154700
Flynn-Aird Syndrome	Skeletal muscle atrophy, Cachexia, Abnormality of the thyroid gland, Primary adrenal insufficienc...	ORPHA:2047
Frontotemporal Dementia	Polyphagia, Disinhibition, Inappropriate laughter	OMIM:600274
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Elevated hepatic transaminase, Skeletal muscle atrophy, Increased circulating lactate dehydrogena...	OMIM:620138
Pneumocystosis	Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Pneumocystis jirove...	ORPHA:723
Mitochondrial Dna-Associated Leigh Syndrome	Hepatomegaly, Apnea, Cardiac conduction abnormality, Dyspnea, Dilated cardiomyopathy, Episodic re...	ORPHA:255210
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Respiratory distress, Respiratory failure requiring assisted ventilation, Hepatomegaly, Ragged-re...	ORPHA:254864
Combined Oxidative Phosphorylation Deficiency 10	Small for gestational age, Cardiomegaly, Pericardial effusion, Hyperammonemia, Hypertrophic cardi...	OMIM:614702
Adult-Onset Distal Myopathy Due To Vcp Mutation	Back pain, Reduced vital capacity, Scapular winging, Abnormality of the musculature of the lower ...	ORPHA:329478
Castleman Disease	Elevated circulating C-reactive protein concentration, Anemia, Decreased mean corpuscular volume,...	ORPHA:160
Hermansky-Pudlak Syndrome 1	Epistaxis, Abdominal pain, Hematochezia, Cardiomyopathy, Restrictive ventilatory defect, Pulmonar...	OMIM:203300
Corticosteroid-Binding Globulin Deficiency	Hypokalemia, Decreased urinary potassium	OMIM:611489
Wolcott-Rallison Syndrome	Hyponatremia, Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Neonatal insuli...	ORPHA:1667
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant	Pulmonary embolism	OMIM:612336
Polycythemia Vera	Myelofibrosis, Gastrointestinal hemorrhage, Fatigue, Hepatomegaly, Angina pectoris, Epistaxis, Po...	ORPHA:729
Cantú Syndrome	Finger syndactyly, Broad hallux phalanx, Abnormal heart valve morphology, Curly eyelashes, Short ...	ORPHA:1517
Myasthenic Syndrome, Congenital, 2A, Slow-Channel	Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T...	OMIM:616313
Thymic Neuroendocrine Tumor	Pancreatic islet cell adenoma, Hypercalcemia, Pituitary null cell adenoma, Neoplasm of the thymus...	ORPHA:97289
Heart Defects, Congenital, And Other Congenital Anomalies	Absent gallbladder, Inguinal hernia, Diabetes mellitus, Failure to thrive, Congenital diaphragmat...	OMIM:600001
Addison Disease	Decreased circulating cortisol level, Adrenal calcification, Anorexia, Adrenal hypoplasia, Increa...	ORPHA:85138
Familial Progressive Cardiac Conduction Defect	Bundle branch block, Abdominal pain, Heart block, Congestive heart failure, Dyspnea, Syncope, Arr...	ORPHA:871
Carney Complex	Neoplasm of the pancreas, Ovarian dermoid cyst, Pituitary growth hormone cell adenoma, Sertoli ce...	ORPHA:1359
Cornelia De Lange Syndrome 1	Congenital diaphragmatic hernia, Proximal placement of thumb, Micromelia, Synophrys, Otitis media...	OMIM:122470
Kawasaki Disease	Abnormality of nail color, Arthralgia, Conjunctivitis, Cholecystitis, Meningitis, Fatigue, Abdomi...	ORPHA:2331
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8	Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Elevated circulating c...	OMIM:254110
Chronic Pneumonitis Of Infancy	Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi...	ORPHA:91359
Muscular Dystrophy, Limb-Girdle, Type 1H	Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, I...	OMIM:613530
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Osteopenia, Gastrointestinal hemorrhage, Inguinal hernia, Congenital hip dislocation, Arachnodact...	OMIM:225400
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Renal sodium wasting, Hyperkalemia, Increased circulating renin level	ORPHA:556037
Proximal Myopathy With Extrapyramidal Signs	Centrally nucleated skeletal muscle fibers, Insulin-resistant diabetes mellitus, Cardiomyopathy, ...	ORPHA:401768
Liver Disease, Severe Congenital	Chronic gastritis, Dry hair, Cardiomegaly, Biliary hyperplasia, Sepsis, Abnormal left ventricular...	OMIM:619991
Thrombotic Thrombocytopenic Purpura, Hereditary	Prolonged neonatal jaundice, Elevated circulating creatinine concentration, Jaundice, Increased b...	OMIM:274150
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Respiratory distress, Skeletal muscle atrophy, Apnea, Flexion contracture, Ragged-red muscle fibe...	ORPHA:17
Microscopic Polyangiitis	Gastrointestinal hemorrhage, Episcleritis, Pericarditis, Gangrene, Sinusitis, Epistaxis, Increase...	ORPHA:727
Reni Syndrome	Hypertriglyceridemia, Cryptorchidism, Hypogonadism, Hypoalbuminemia, Adrenal insufficiency, Lymph...	OMIM:617575
Brugada Syndrome 6	ST segment elevation, Ventricular fibrillation, Cardiac arrest	OMIM:613119
Hereditary Mucoepithelial Dysplasia	Recurrent respiratory infections, Pulmonary fibrosis	ORPHA:1839
Say-Barber-Miller Syndrome	Patellar hypoplasia, Abnormal T cell morphology, Knee flexion contracture, Decreased circulating ...	ORPHA:3132
Congenital Myopathy 6 With Ophthalmoplegia	Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture, Type 1 muscle ...	OMIM:605637
Congenital Myopathy 3 With Rigid Spine	Reduced vital capacity, Short stature, Facial palsy, Centrally nucleated skeletal muscle fibers, ...	OMIM:602771
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated hepatic transaminase, Liver abscess, Abdominal pain, Abnormality of the pancreas, Abnorm...	ORPHA:54251
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia	Skeletal muscle atrophy, Congenital hip dislocation, Ankle flexion contracture, Centrally nucleat...	OMIM:117000
Glycerol Kinase Deficiency	Adrenocortical hypoplasia, Hypertriglyceridemia, Small for gestational age, Short stature, Hyperg...	OMIM:307030
Dyskeratosis Congenita, Autosomal Dominant 2	Dilated cardiomyopathy	OMIM:613989
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Abdominal pain, Biliary hyperpl...	ORPHA:567983
Isolated Biliary Atresia	Conjugated hyperbilirubinemia, Elevated gamma-glutamyltransferase level, Hypothyroidism, Hepatome...	ORPHA:30391
Familial Osteodysplasia, Anderson Type	Recurrent fractures, Aplastic clavicle, Bifid femur, Increased susceptibility to fractures, Hyper...	ORPHA:2769
Malignant Hyperthermia Of Anesthesia	High-output congestive heart failure, Hyperkalemia, Ventricular tachycardia, Premature ventricula...	ORPHA:423
Myoclonic Epilepsy Associated With Ragged-Red Fibers	Increased serum pyruvate, Myopathy, Ragged-red muscle fibers	OMIM:545000
Scalp-Ear-Nipple Syndrome	Finger syndactyly, Short stature, Sparse axillary hair, Sparse pubic hair, Congestive heart failu...	OMIM:181270
Hypothyroidism, Congenital, Nongoitrous, 2	Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo...	OMIM:218700
3-Hydroxy-3-Methylglutaric Aciduria	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Nonketotic hypoglycemia, Anorexi...	ORPHA:20
Aorto-Ventricular Tunnel	Ventricular hypertrophy, Abnormal heart valve morphology, Aorto-ventricular tunnel, Congestive he...	ORPHA:3400
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat...	ORPHA:64753
Central Diabetes Insipidus	Hyponatremia, Anorexia, Weight loss, Polydipsia, Failure to thrive, Diabetes insipidus	ORPHA:178029
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Pulmonary fibrosis	OMIM:611926
Hermansky-Pudlak Syndrome 2	Albinism, Periodontitis, Recurrent abscess formation, Neutropenia, Hepatomegaly, Decreased CD4:CD...	OMIM:608233
Myopathy, X-Linked, With Excessive Autophagy	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Flexion contracture,...	OMIM:310440
Common Variable Immunodeficiency	Elevated hepatic transaminase, Recurrent respiratory infections, Pneumonia, Splenomegaly, Vasculi...	ORPHA:1572
Occipital Horn Syndrome	Osteopenia, Coxa vara, Humerus varus, Coarse hair, Short palm, Large iliac wing, Femoral hernia, ...	ORPHA:198
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Bowing of the long bones, Thin bony cortex, Recurrent fractures, Joint hypermobilit...	OMIM:617952
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean...	OMIM:618278
Dend Syndrome	Hyperglycemia, Elevated hemoglobin A1c	ORPHA:79134
Aapoaiv Amyloidosis	Back pain, Atrial flutter, Diabetes mellitus, Abnormal cardiac ventricular function, Atrial fibri...	ORPHA:439232
Adult Idiopathic Neutropenia	Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Increased circula...	ORPHA:2688
Sporadic Pheochromocytoma/Secreting Paraganglioma	Fatigue, Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypercalcemia, Cerebral h...	ORPHA:276621
Atelis Syndrome 2	Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Dysmetria, Supr...	OMIM:620185
Coffin-Siris Syndrome	Low anterior hairline, Papillary thyroid carcinoma, Hernia, Aspiration pneumonia, Atrial septal d...	ORPHA:1465
Protoporphyria, Erythropoietic, 1	Cholelithiasis, Hemolytic anemia, Eczema, Hypertriglyceridemia	OMIM:177000
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Ragged-red muscle fibers, Slender build, Cachexia, Weight loss	OMIM:613662
Cog1-Cdg	Osteopenia, Rhizomelia, Coxa valga, Postnatal growth retardation, Flat acetabular roof, Hepatospl...	ORPHA:263508
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Cerebellar atrophy, Cerebral cortical neurodegeneration, Cerebral atrophy, Astrocytosis, Gliosis,...	OMIM:203700
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Hypothermia	OMIM:608800
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3	Muscle fiber inclusion bodies, Elevated circulating creatine kinase concentration, Centrally nucl...	OMIM:615424
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Hypothyroidism, Hemolytic anemia, Hepatomegaly, Chilblains, Pericardial effus...	OMIM:615846
Cardiogenic Shock	Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction...	ORPHA:97292
Trisomy 18P	Short stature, Facial palsy, Highly arched eyebrow, Bilateral cryptorchidism, Abnormal finger mor...	ORPHA:1715
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2	Exercise intolerance, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration...	OMIM:616479
Gm1-Gangliosidosis, Type Ii	Hepatomegaly, Coxa valga, Joint stiffness, Splenomegaly, Sea-blue histiocytosis, Dysphagia, Limb ...	OMIM:230600
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:235400
Myopathy, Myofibrillar, 7	Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Shoulder flexion co...	OMIM:617114
Igg4-Related Kidney Disease	Renal insufficiency, Proteinuria, Elevated circulating C-reactive protein concentration, Renal in...	ORPHA:449395
Alpha-Mannosidosis, Adult Form	Osteopenia, Aortic regurgitation, Pancytopenia, Pneumonia, Recurrent infections, Hepatosplenomega...	ORPHA:309288
Riboflavin Transporter Deficiency	Skeletal muscle atrophy, Facial palsy, Cachexia, Aggressive behavior, Hypogonadism, Dysphagia, Li...	ORPHA:97229
Familial Chylomicronemia Syndrome	Acute pancreatitis, Diabetes mellitus, Hypertriglyceridemia, Precocious atherosclerosis, Pulmonar...	ORPHA:444490
Thalidomide Embryopathy	Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra...	ORPHA:3312
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Renal insufficiency, Splenomegaly, Stage 5 chronic kidney disease, Ureteral atresia...	OMIM:208540
Neuroendocrine Tumor Of The Colon	Elevated hepatic transaminase, Hepatomegaly, Anorexia, Weight loss, Atypical pulmonary carcinoid ...	ORPHA:100080
Ectodermal Dysplasia-Syndactyly Syndrome 2	Syndactyly, Cardiomegaly, Palmoplantar keratoderma, Follicular hyperkeratosis, Sparse hair, Ename...	OMIM:613576
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Aminoaciduria, Failure to thrive, Cachexia, Weight loss	OMIM:612075
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Portal inflammat...	OMIM:602347
Spondyloenchondrodysplasia With Immune Dysregulation	Metaphyseal dysplasia, Recurrent respiratory infections, Short stature, Pneumonia, Autoimmune thr...	OMIM:607944
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)	Elevated circulating creatine kinase concentration, Respiratory insufficiency due to muscle weakn...	OMIM:609560
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Fingerpad telangiectas...	OMIM:600376
Pfapa Syndrome	Splenomegaly, Hepatomegaly, Weight loss	ORPHA:42642
Budd-Chiari Syndrome	Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome...	ORPHA:131
Renpenning Syndrome	Skeletal muscle atrophy, Diabetes mellitus, Cachexia	ORPHA:3242
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Tricuspid regurgitation, Decreased circulating copper concen...	OMIM:300972
Gallbladder Disease 1	Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ...	OMIM:600803
Kleine-Levin Hibernation Syndrome	Polyphagia	OMIM:148840
Craniopharyngioma	Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Myoc...	ORPHA:54595
Slc35A1-Cdg	Respiratory distress, Pneumonia, Giant platelets, Neutropenia, Hypoxemia, Cellulitis, Abnormal pl...	ORPHA:238459
Hereditary Pheochromocytoma-Paraganglioma	Positive regitine blocking test, Paraganglioma of head and neck, Extraadrenal pheochromocytoma, F...	ORPHA:29072
Classic Homocystinuria	Gastrointestinal hemorrhage, Sparse scalp hair, Hepatomegaly, Arachnodactyly, Recurrent fractures...	ORPHA:394
Polyendocrine-Polyneuropathy Syndrome	Hypoglycemia, Anterior pituitary hypoplasia, Hypogonadotropic hypogonadism, Decreased circulating...	ORPHA:453533
Spondylometaphyseal Dysplasia, Pagnamenta Type	Rhizomelia, Femoral bowing, Short 5th metacarpal, Short 4th metacarpal, Broad thumb, Thin bony co...	OMIM:619638
Huntington Disease-Like 2	Weight loss	ORPHA:98934
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Bicuspid aortic valve, Compulsive behaviors, Otitis media, Atrial septal defect, Aspiration, Abno...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Bicuspid aortic valve, Compulsive behaviors, Otitis media, Atrial septal defect, Aspiration, Abno...	ORPHA:353277
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities	Muscle fiber atrophy, Failure to thrive, Flexion contracture, Elevated circulating creatine kinas...	OMIM:620240
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Decreased circulating cortisol level, Severe B lymphocytopenia, Decreased response to growth horm...	ORPHA:293978
Immunodeficiency 84	B-cell lymphoma, Perianal abscess, Splenomegaly, Persistent EBV viremia, Recurrent bacterial infe...	OMIM:619437
Classic Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Anorexia, Weight loss	ORPHA:391
Lethal Congenital Contracture Syndrome 10	Omphalocele, Torticollis, Overriding aorta, Ventricular septal defect, Stiff neck, Cardiomegaly, ...	OMIM:617022
Sarcoidosis	Abnormal nasal mucosa morphology, Heart block, Abnormal lung morphology, Ventricular tachycardia,...	ORPHA:797
Peripheral Primitive Neuroectodermal Tumor	Neoplasm of the pancreas, Torticollis, Elevated carcinoma antigen 125 level, Elevated circulating...	ORPHA:370348
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant	Scapular winging, Elevated circulating creatine kinase concentration, Centrally nucleated skeleta...	OMIM:601846
Roifman-Chitayat Syndrome	Osteopenia, Short metacarpal, Pneumonia, Short metatarsal, Cone-shaped epiphysis, Arthritis, Umbi...	OMIM:613328
16P12.1P12.3 Triplication Syndrome	Tachycardia	ORPHA:485405
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Curly hair, Increased bone mineral density, Thin bony cortex, Short tubular bones of ...	ORPHA:85184
Carney Complex, Type 1	Elevated circulating growth hormone concentration, Congestive heart failure, Pituitary adenoma, P...	OMIM:160980
Larsen-Like Syndrome, Lethal Type	Joint dislocation, Multiple joint dislocation, Abnormal cartilage matrix, Tracheomalacia, Pulmona...	OMIM:245650
Ataxia With Vitamin E Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma	OMIM:277460
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Renal sodium wasting, Hyperkalemia, Increased circulating renin level	ORPHA:556030
Colchicine Poisoning	Hyponatremia, Respiratory distress, Alopecia, Congestive heart failure, Leukocytosis, Myocarditis...	ORPHA:31824
Igg4-Related Retroperitoneal Fibrosis	Anorexia, Elevated circulating C-reactive protein concentration, Elevated circulating creatinine ...	ORPHA:49041
Neonatal Alloimmune Neutropenia	Pneumonia, Maternal diabetes, Severe infection, Sepsis, Neutropenia in presence of anti-neutropil...	ORPHA:464370
Cholera	Hyponatremia, Tachycardia, Abnormal blood ion concentration, Hypovolemic shock, Hypokalemia, Hypo...	ORPHA:173
Intermediate Osteopetrosis	Back pain, Osteomyelitis, Recurrent fractures, Cortical sclerosis, Chronic infection, Generalized...	ORPHA:210110
Combined Oxidative Phosphorylation Deficiency 51	Neonatal respiratory distress, Severe short stature, Small for gestational age, Growth delay, Res...	OMIM:619057
Bullous Pemphigoid	Diabetes mellitus, Weight loss	ORPHA:703
Weill-Marchesani Syndrome 1	Ventricular septal defect, Short stature, Proportionate short stature, Joint stiffness, Broad met...	OMIM:277600
Adult-Onset Autosomal Dominant Leukodystrophy	Anhidrosis, Hypothermia, Flexion contracture, Impotence, Decreased sweating due to autonomic dysf...	ORPHA:99027
Malignant Hyperthermia, Susceptibility To, 5	Tachycardia	OMIM:601887
Hallermann-Streiff Syndrome	Alopecia, Sparse eyelashes, Recurrent fractures, Tracheomalacia, Abnormality of hair texture, Spa...	ORPHA:2108
Mast Cell Sarcoma	Splenomegaly, Hepatomegaly, Weight loss	ORPHA:66661
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4	Back pain, Scapular winging, Elevated circulating creatine kinase concentration, Centrally nuclea...	OMIM:618129
Focal Facial Dermal Dysplasia Type Iv	Intracranial hemorrhage, Hemangioma, Abnormal mast cell morphology, Scarring	ORPHA:398189
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Nonprogressive muscular atrophy, Distal amyotrophy, Cachexia	ORPHA:1216
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Hepatomegaly, Femur fracture, Splenomegaly, Recurrent pneumo...	OMIM:612301
Drug-Induced Lupus Erythematosus	Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce...	ORPHA:231111
Eosinophilic Fasciitis	Myositis, Fasciitis, Weight loss, Cellulitis, Muscular edema, Acrocyanosis	ORPHA:3165
Gm1 Gangliosidosis Type 1	Hepatosplenomegaly, Cardiomyopathy, Flared iliac wing, Short long bone, Macroglossia, Abnormal od...	ORPHA:79255
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Hypercholesterolemia	ORPHA:96184
Myasthenic Syndrome, Congenital, 12	Ragged-red muscle fibers, Facial palsy, Mildly elevated creatine kinase, Proximal amyotrophy	OMIM:610542
Marburg Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Leukopenia, Hypoalbuminemia, Abnormal lymphoc...	ORPHA:99826
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, Myocardial infarction, Reduced bone mineral density, Gastrointestinal inflammation, G...	ORPHA:99413
Immunodeficiency, Common Variable, 13	Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, Recurrent bacte...	OMIM:616873
Mosaic Monosomy X	Osteopenia, Myocardial infarction, Reduced bone mineral density, Gastrointestinal inflammation, G...	ORPHA:99228
Monosomy X	Osteopenia, Myocardial infarction, Reduced bone mineral density, Gastrointestinal inflammation, G...	ORPHA:99226
Chromosome 1P36 Deletion Syndrome, Distal	Bicuspid aortic valve, Synophrys, Abnormal lung lobation, Clinodactyly of the 5th finger, Atrial ...	OMIM:607872
Turner Syndrome	Osteopenia, Myocardial infarction, Reduced bone mineral density, Gastrointestinal inflammation, G...	ORPHA:881
Double Outlet Right Ventricle	Tachycardia, Heart murmur, Hypocalcemia, Pulmonic stenosis	ORPHA:3426
Ebstein Anomaly	Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ventricular preexcitation, Right bu...	OMIM:224700
Zebra Body Myopathy	Torticollis, Autophagic vacuoles, Facial palsy, Elevated circulating creatine kinase concentratio...	ORPHA:97240
Mucoepithelial Dysplasia, Hereditary	Alopecia, Eosinophilia, Pneumonia, Recurrent pneumonia, Cor pulmonale, Chronic mucocutaneous cand...	OMIM:158310
Intestinal Dysmotility Syndrome	Failure to thrive, Weight loss	OMIM:620045
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Craniofacial hyperostosis, Skeletal muscle atrophy, Hypogonadotropic hypogonadism, Short stature,...	ORPHA:3068
Bile Acid Synthesis Defect, Congenital, 4	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate...	OMIM:214950
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Restrictive ventilatory defect, Pulmonary fibrosis	OMIM:619767
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Skeletal muscle atrophy, Small for gestational age, Hyperammonemia, Recurrent infections, Short f...	OMIM:615471
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Lymphopenia, Failure to thrive, Hepatomegaly, Aplasia of the thymus, Eosinophilia, Pneumonia, Spl...	OMIM:602450
Aceruloplasminemia	Refractory anemia, Torticollis, Diabetes mellitus, Decreased circulating ceruloplasmin concentrat...	ORPHA:48818
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Right axis deviation, Increased circulating NT-proBNP concentrati...	OMIM:232300
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Failure to thrive, Respiratory distress, ...	OMIM:615512
Fructose-1,6-Bisphosphatase Deficiency	Hyperalaninemia, Tachycardia, Hyperuricemia, Neonatal hyperbilirubinemia	ORPHA:348
Kniest Dysplasia	Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea...	ORPHA:485
Chylomicron Retention Disease	Hypertriglyceridemia, Acanthocytosis, Steatorrhea, Growth delay, Myopathy, Hypocholesterolemia, E...	ORPHA:71
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Joint laxity, Nail-biting, Sandal gap, Ventricular septal defect, Eczema, Aggressive behavior, Lo...	OMIM:620330
Rhabdomyolysis, Susceptibility To, 1	Exercise intolerance, Elevated circulating creatine kinase concentration, Centrally nucleated ske...	OMIM:620235
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Acrocyanosis, Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:223900
Bone Dysplasia, Lethal Holmgren Type	Hepatomegaly, Failure to thrive, Hernia, Weight loss	ORPHA:1842
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Sinusitis, Short stature, Pneumonia, Bronchiectasis, Increased circulating IgM level, T lymphocyt...	OMIM:242860
Infantile Liver Failure Syndrome 2	Elevated hepatic transaminase, Acute hepatic failure, Hypoglycemia, Jaundice, Hyperammonemia	OMIM:616483
Presynaptic Congenital Myasthenic Syndromes	Joint laxity, Recurrent respiratory infections, Congenital hip dislocation, Sudden episodic apnea...	ORPHA:98914
Congenital Myasthenic Syndrome	Joint laxity, Recurrent respiratory infections, Congenital hip dislocation, Sudden episodic apnea...	ORPHA:590
Biliary Atresia, Extrahepatic	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres...	OMIM:210500
Autosomal Dominant Centronuclear Myopathy	Proximal muscle weakness in upper limbs, Urinary incontinence, Large for gestational age, Respira...	ORPHA:169189
Spondyloocular Syndrome	Long toe, Osteopenia, Femur fracture, Arachnodactyly, Unilateral cryptorchidism, Overlapping toe,...	OMIM:605822
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Portal hypertension, Raynaud phenomenon, Splenomegaly, Vasculitis, Dilated cardiomy...	OMIM:615688
Orofaciodigital Syndrome I	Pancreatic cysts, Ovarian cyst, Polycystic kidney dysplasia, Hepatic cysts	OMIM:311200
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Elevated hepatic transaminase, Failure to thrive, Hypoglycemia, Conjugated hype...	OMIM:617156
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Bifid scrotum, Fused labia majora, Small scrotum, Hypospadias, Cryptorchidism, Vesicovaginal fist...	OMIM:201750
Christianson Syndrome	Decreased muscle mass, Cachexia, Inappropriate laughter, Dysphagia, Arthrogryposis multiplex cong...	ORPHA:85278
Cystinosis, Nephropathic	Skeletal muscle atrophy, Oral-pharyngeal dysphagia, Aminoaciduria, Hypophosphatemic rickets, Male...	OMIM:219800
Meningococcal Meningitis	Fever, Hypothermia	ORPHA:33475
Neu-Laxova Syndrome	Osteopenia, Skeletal muscle atrophy, Osteomalacia, Micromelia, Abnormal eyelash morphology, Abnor...	ORPHA:2671
Multiple Osteochondromas	Deformed radius, Abnormal tibia morphology, Metaphyseal widening, Abnormal carpal morphology, Abn...	ORPHA:321
Isaacs Syndrome	Calf muscle hypertrophy, Weight loss	ORPHA:84142
Cirrhosis, Familial	Hypertension, Pulmonary arterial hypertension	OMIM:215600
Tenorio Syndrome	Osteopenia, Joint laxity, Hypoglycemia, Raynaud phenomenon, Syncope, Gait disturbance, Gastroesop...	OMIM:616260
Aortic Aneurysm, Familial Thoracic 10	Aortic arch aneurysm, Joint laxity, Bicuspid aortic valve, Thoracic aortic aneurysm, Fusiform asc...	OMIM:617168
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Fatigue, Exercise intolerance, Diabetes mellitus, Abnormality of the thyroid gland, Ragged-red mu...	OMIM:609286
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Bronchitis, Anorexia, Abnormality of the spleen, Abnormality of...	ORPHA:2552
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Hepatomegaly, Decreased muscle mass, Postnatal growth retardation, Metaphyseal widening, Dysphagi...	ORPHA:73230
Neuroendocrine Tumor Of The Rectum	Elevated hepatic transaminase, Hepatomegaly, Anorexia, Weight loss, Atypical pulmonary carcinoid ...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Elevated hepatic transaminase, Hepatomegaly, Anorexia, Weight loss, Atypical pulmonary carcinoid ...	ORPHA:100082
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Hyperprolinemia, Perimembranous ventricular septal defect, Hyperalaninemia, Recurre...	OMIM:619170
Miyoshi Muscular Dystrophy 1	Elevated circulating creatine kinase concentration, Distal amyotrophy, Muscular dystrophy, Lower ...	OMIM:254130
Chromosome Xq26.3 Duplication Syndrome	Ventricular hypertrophy, Elevated circulating growth hormone concentration, Pituitary adenoma, In...	OMIM:300942
Immunodeficiency 85 And Autoimmunity	Recurrent respiratory infections, Pulmonary fibrosis	OMIM:619510
Melioidosis	Shock, Brain abscess, Unusual skin infection, Liver abscess, Lung abscess, Pneumonia, Foot osteom...	ORPHA:31202
Hypophosphatemic Rickets And Hyperparathyroidism	Renal phosphate wasting, Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia	OMIM:612089
Lowe Oculocerebrorenal Syndrome	Elevated circulating creatine kinase concentration, Bicarbonaturia, Abnormal repetitive mannerism...	OMIM:309000
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Immunodeficiency 33	Pneumocystis jirovecii pneumonia, Increased circulating IgA level, Decreased circulating total Ig...	OMIM:300636
Immunodeficiency 31C	Osteopenia, Skeletal muscle atrophy, Cough, Disseminated histoplasmosis, Recurrent vulvovaginal c...	OMIM:614162
Multiple Endocrine Neoplasia Type 1	Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t...	ORPHA:652
Hyperekplexia 1	Aspiration, Apnea	OMIM:149400
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Lewy bodies	OMIM:619133
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2	Skeletal muscle atrophy, Myositis, Elevated circulating creatine kinase concentration, Centrally ...	OMIM:615422
Simpson-Golabi-Behmel Syndrome, Type 1	Hepatomegaly, Neonatal respiratory distress, Ventricular septal defect, Facial hypotonia, Congeni...	OMIM:312870
Autosomal Dominant Hypophosphatemic Rickets	Hyperphosphaturia, Hypocalcemia, Hypophosphatemia	ORPHA:89937
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Short metacarpal, Partial agenesis of the corpus callosum, Abnormal cartilage matrix, Epiphyseal ...	ORPHA:86822
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Hemolytic anemia, Decreased HDL cholester...	ORPHA:650
Myopathy, Centronuclear, 2	Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Respiratory insuffici...	OMIM:255200
Angelman Syndrome	Hyperactivity, Precocious puberty in females, Aggressive behavior, Tongue thrusting, Obesity, Sel...	ORPHA:72
Myopathy, Centronuclear, 4	Exercise intolerance, Centrally nucleated skeletal muscle fibers, Abnormal circulating creatine k...	OMIM:614807
Congenital Enterovirus Infection	Fever, Pleural effusion, Hypothermia	ORPHA:292
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Hyperextensibility of the finger joints, Decreased muscle mass, Short stature, Recurrent fracture...	OMIM:309583
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Cerebral hemorrhage, Pulmonary embolism	OMIM:614514
Acys Amyloidosis	Amyloidosis, Cerebral amyloid angiopathy	ORPHA:100008
Hypoplasminogenemia	Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology	ORPHA:722
Gmppb-Related Limb-Girdle Muscular Dystrophy R19	Proximal muscle weakness in upper limbs, Dilatation of the ventricular cavity, Respiratory insuff...	ORPHA:363623
Hermansky-Pudlak Syndrome	Fatigue, Gastrointestinal hemorrhage, Epistaxis, Abdominal pain, Dyspnea, Cardiomyopathy, Pulmona...	ORPHA:79430
Parkinson Disease 8, Autosomal Dominant	Lewy bodies, Substantia nigra gliosis	OMIM:607060
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:209902
Bohring-Opitz Syndrome	Apnea, Cardiomegaly, Synophrys, Congenital contracture, Short stature, Medulloblastoma, Bilateral...	ORPHA:97297
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Short stature, Eczema, Autoimmune thrombocytopenia, Desquamative int...	OMIM:615952
Lethal Acantholytic Erosive Disorder	Absent eyebrow, Acantholysis, Absent eyelashes, Cardiomegaly, 4-5 finger syndactyly, 2-3 finger s...	ORPHA:158687
Rhabdoid Tumor	Neoplasm of the liver, Hypercalcemia, Weight loss	ORPHA:69077
Lethal Congenital Contracture Syndrome 5	Small for gestational age, Elevated circulating creatine kinase concentration, Centrally nucleate...	OMIM:615368
Pseudomyxoma Peritonei	Abnormal peritoneum morphology, Ascites, Hernia, Weight loss	ORPHA:26790
Immunodeficiency 89 And Autoimmunity	Pulmonary bulla, Reduced circulating interleukin 17A concentration, Reduced circulating interleuk...	OMIM:619632
Severe Congenital Nemaline Myopathy	Skeletal muscle atrophy, Facial palsy, Increased connective tissue, Multiple prenatal fractures, ...	ORPHA:171430
Cerebral Amyloid Angiopathy, Itm2B-Related, 2	Neurofibrillary tangles, Cerebral amyloid angiopathy	OMIM:117300
Cap Myopathy	Reduced systolic function, Central hypoventilation, Facial palsy, Abnormal muscle fiber morpholog...	ORPHA:171881
Agammaglobulinemia, X-Linked	Sepsis, T lymphocytopenia, Decreased circulating IgE, Conjunctivitis, Neutropenia, Decreased circ...	OMIM:300755
Beckwith-Wiedemann Syndrome	Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Nephrolithiasis, Renal cortical cysts, Nephro...	OMIM:130650
Brugada Syndrome 5	ST segment elevation, Bundle branch block, Ventricular fibrillation	OMIM:612838
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Skeletal muscle atrophy, Dilated cardiomyopathy, Flexion contracture	ORPHA:89842
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Angina pectoris, Hypertriglyceridemia, Increased HDL cholesterol concentration, Premature coronar...	ORPHA:140905
Hypercholanemia, Familial 1	Failure to thrive, Rickets, Increased serum bile acid concentration, Steatorrhea	OMIM:607748
Dyskeratosis Congenita, Autosomal Recessive 1	Hepatic fibrosis, Pulmonary fibrosis	OMIM:224230
Congenital Isolated Acth Deficiency	Fatigue, Decreased circulating cortisol level, Hepatitis, Hypotension, Prolonged neonatal jaundice	ORPHA:199296
Bloom Syndrome	Squamous cell carcinoma, Clinodactyly of the 5th finger, Decreased circulating IgG level, Syndact...	OMIM:210900
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Atelectasis, Recurrent Haemophilus influenzae infections, Otitis media, Chronic sinusitis, Recurr...	OMIM:300455
Immunodeficiency 92	Hepatomegaly, Recurrent oral herpes, Osteomyelitis, Persistent CMV viremia, Pneumonia, Cholangiti...	OMIM:619652
Myopathy, Scapulohumeroperoneal	Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Increased connectiv...	OMIM:616852
46,Xy Sex Reversal 4	Hypergonadotropic hypogonadism, Elevated circulating creatinine concentration, Increased blood ur...	OMIM:154230
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Decreased circulating cortisol level, Neonatal hypoglycemia, Premature adrenarche, Hyponatremia, ...	ORPHA:90794
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Hypoplastic ilia, Wide anter...	ORPHA:2347
Cystic Fibrosis	Hepatomegaly, Hypercalciuria, Hepatosplenomegaly	OMIM:219700
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Weight loss	ORPHA:545
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Elevated circulating creatine kinase concentration, Normochromic an...	OMIM:618775
Williams-Beuren Syndrome	Recurrent urinary tract infections, Renal insufficiency, Hypercalcemia, Abnormal renal morphology...	OMIM:194050
Hereditary Central Diabetes Insipidus	Polydipsia, Diabetes insipidus, Weight loss	ORPHA:30925
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Acute lymphoblastic leukemia, Recurrent bacterial infections, Myelodysplasia, Neutropenia	OMIM:610738
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Accelerated atherosclerosis, Angina pectoris, Congestive heart failu...	OMIM:264800
Aicardi-Goutières Syndrome	Enchondroma, Myositis, Diabetes mellitus, Multiple joint contractures, Lipoatrophy, Chilblains, N...	ORPHA:51
Heterotaxy, Visceral, 1, X-Linked	Respiratory distress, Congenital hip dislocation, Cardiomegaly, Asplenia, Dextrotransposition of ...	OMIM:306955
Pulmonary Alveolar Proteinosis, Acquired	Brain abscess, Recurrent respiratory infections, Lung abscess, Cyanosis, Pneumonia, Dyspnea, Club...	OMIM:610910
Bone Marrow Failure Syndrome 5	Testicular atrophy, Pulmonary fibrosis	OMIM:618165
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Osteopenia, Bicuspid aortic valve, Apnea, Aspiration pneumonia, Atrial septal defect, Hypothyroid...	ORPHA:438213
Immunodeficiency 13	Nasal polyposis, Recurrent pneumonia, Bronchiolitis obliterans organizing pneumonia, Bronchiectas...	OMIM:615518
Noonan Syndrome With Multiple Lentigines	Bundle branch block, Myocardial infarction, Atrioventricular canal defect, Spina bifida occulta, ...	ORPHA:500
Autoimmune Hypoparathyroidism	Prolonged QT interval, Ventricular arrhythmia, Abnormal left ventricular function, Hyperphosphate...	ORPHA:36913
Tropical Pancreatitis	Pancreatic adenocarcinoma, Maternal diabetes, Insulin-dependent but ketosis-resistant diabetes, J...	ORPHA:103918
Neuroendocrine Tumor Of Stomach	Elevated hepatic transaminase, Hepatomegaly, Anorexia, Increased circulating ACTH level, Weight l...	ORPHA:100075
Eosinophilic Gastroenteritis	Elevated circulating C-reactive protein concentration, Steatorrhea, Weight loss, Hypoalbuminemia,...	ORPHA:2070
Methanol Poisoning	Myocardial infarction, Cerebral hemorrhage, Abdominal pain, Hyperlipidemia, Permanent atrial fibr...	ORPHA:31825
Parkinson Disease 1, Autosomal Dominant	Lewy bodies, Gliosis, Global brain atrophy	OMIM:168601
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2	Exercise intolerance, EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy	OMIM:609283
Focal Segmental Glomerulosclerosis 1	Hyperlipidemia, Hypertension, Hypoalbuminemia, Pleural effusion, Anemia	OMIM:603278
Ebstein Malformation Of The Tricuspid Valve	Fatigue, Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive h...	ORPHA:1880
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Hyperthyroidism, Short stature, Thick hair, Generalized joint laxity, Increased variability in mu...	ORPHA:502423
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ...	OMIM:620066
Immunodeficiency 10	Kaposi's sarcoma, Autoimmune hemolytic anemia, Recurrent infections, Recurrent bacterial infectio...	OMIM:612783
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1	Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ...	ORPHA:34516
Heart Block, Congenital	Atrioventricular block, Myocardial fibrosis, Absent atrioventricular node, Myocardial calcificati...	OMIM:234700
Spastic Paraplegia Type 2	Recurrent respiratory infections, Limitation of joint mobility, Bowel incontinence, Pulmonary emb...	ORPHA:99015
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome	Decreased circulating ferritin concentration, Abnormal muscle fiber protein expression	ORPHA:330054
Agammaglobulinemia 1, Autosomal Recessive	Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Bronchie...	OMIM:601495
Congenital Toxoplasmosis	Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Anemia, Intrauterine growth retardation...	ORPHA:858
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Fatigue, Cardiomegaly, Congestive heart failure, Cardiomyopathy, Myalgia, Limb muscle weakness	OMIM:619259
Complement Factor H Deficiency	Recurrent bacterial infections	OMIM:609814
Gallbladder Neuroendocrine Tumor	Anorexia, Biliary tract neoplasm, Extrahepatic cholestasis, Intermittent jaundice, Weight loss, C...	ORPHA:100086
Multiple Benign Circumferential Skin Creases On Limbs	Inguinal hernia, Short stature, Cryptorchidism, Congestive heart failure, Localized neuroblastoma...	ORPHA:2505
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, Abnormal left ventricula...	ORPHA:91387
Cutis Laxa, Autosomal Dominant 1	Aortic regurgitation, Inguinal hernia, Ventricular septal defect, Congestive heart failure, Dyspn...	OMIM:123700
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Necrotizing enterocolitis, Exercise-induced rhabdomyolysis, Elevated circulating cr...	OMIM:201475
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Hypoparathyroidism, Septate vagina, Uterus didelphys, Primary amenorrhea, Aplasia of the vagina, ...	OMIM:146255
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Astrocytosis	ORPHA:309854
Fructose-1,6-Bisphosphatase Deficiency	Tachycardia	OMIM:229700
Tbck-Related Intellectual Disability Syndrome	Thick eyebrow, Hyperthyroidism, Decreased response to growth hormone stimulation test, Hypothermi...	ORPHA:488632
Chops Syndrome	Curly hair, Chronic lung disease, Ventricular septal defect, Thick hair, Short stature, Cryptorch...	OMIM:616368
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Abnormal blood ion concentration, Abnormal tubulointerstitial morphology, Hypo...	ORPHA:411629
Coenzyme Q10 Deficiency, Primary, 1	Fatigue, Pancytopenia, Hypergonadotropic hypogonadism, Elevated circulating creatine kinase conce...	OMIM:607426
46,Xx Gonadal Dysgenesis	Pulmonary fibrosis	ORPHA:243
Cryptogenic Organizing Pneumonia	Cyanosis, Elevated circulating C-reactive protein concentration, Anorexia, Weight loss, Hypoxemia	ORPHA:1302
Fucosidosis	Recurrent respiratory infections, Hepatomegaly, Short stature, Coxa valga, Cardiomegaly, Splenome...	OMIM:230000
Parkinson Disease 23, Autosomal Recessive Early-Onset	Neurofibrillary tangles, Lewy bodies, Cerebral cortical atrophy	OMIM:616840
Hypophosphatasia, Adult	Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, Pathologic fra...	OMIM:146300
Microphthalmia With Linear Skin Defects Syndrome	Respiratory distress, Tricuspid regurgitation, Congenital diaphragmatic hernia, Dyspnea, Dilated ...	ORPHA:2556
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Oculopharyngodistal Myopathy 4	Autophagic vacuoles, Elevated circulating creatine kinase concentration, Fatty replacement of ske...	OMIM:619790
Hsd10 Disease, Infantile Type	Restlessness, Cyanosis, Cardiomegaly, Hyperammonemia, Dysphagia, Hypertrophic cardiomyopathy, Par...	ORPHA:391428
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fan...	ORPHA:436271
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Cystic renal dysplasia, Enlarged kidney	OMIM:200995
Alagille Syndrome 1	Hypoplasia of the ulna, Hypertriglyceridemia, Ventricular septal defect, Tetralogy of Fallot, Coa...	OMIM:118450
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia	ORPHA:542306
Ataxia-Telangiectasia	Conjunctival telangiectasia, Sinusitis, T lymphocytopenia, Hypoplasia of the thymus, Decreased ci...	OMIM:208900
Aspartylglucosaminuria	Recurrent respiratory infections, Inguinal hernia, Hepatomegaly, Abnormal morphology of ulna, Joi...	ORPHA:93
African Trypanosomiasis	Urinary incontinence, Arthralgia, Conjunctivitis, Iritis, Fatigue, Abnormal EKG, Alopecia, Hepato...	ORPHA:3385
Diencephalic Syndrome	Abnormality of the hypothalamus-pituitary axis, Cachexia, Decreased body weight	ORPHA:1672
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc	Elevated circulating creatine kinase concentration, Ragged-red muscle fibers, Lower limb amyotrop...	OMIM:616924
Charcot-Marie-Tooth Disease, Recessive Intermediate A	Angulated muscle fibers, Upper limb muscle weakness, Hammertoe, Distal amyotrophy, Talipes equino...	OMIM:608340
Alzheimer Disease 2	Neurofibrillary tangles	OMIM:104310
Parkinson Disease, Late-Onset	Lewy bodies, Substantia nigra gliosis, Neuronal loss in central nervous system	OMIM:168600
Immunodeficiency 31B	Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections	OMIM:613796
Gaucher Disease, Perinatal Lethal	Respiratory distress, Hepatomegaly, Apnea, Cardiomegaly, Splenomegaly, Dysphagia, Hepatosplenomeg...	OMIM:608013
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Increa...	ORPHA:2232
Chitayat Syndrome	Respiratory distress, Recurrent respiratory infections, Abnormal pulmonary interstitial morpholog...	OMIM:617180
Kearns-Sayre Syndrome	Skeletal muscle atrophy, Anterior hypopituitarism, Ragged-red muscle fibers, Third degree atriove...	ORPHA:480
Alzheimer Disease, Familial, 1	Neurofibrillary tangles	OMIM:104300
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Fatigue, Pulmonary embolism, Respiratory tract infection, Abdominal pain, Hyperlipidemia, Minimal...	ORPHA:567546
Reactive Arthritis	Aortic regurgitation, Pericarditis, Abnormal pleura morphology, Abdominal pain, Respiratory insuf...	ORPHA:29207
Congenital Myopathy 18	Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, F...	OMIM:620246
Reynolds Syndrome	Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Raynaud phenomenon, Spl...	OMIM:613471
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta	Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis	OMIM:226100
Fanconi Anemia, Complementation Group F	Short stature, Decreased response to growth hormone stimulation test, Pneumonia, Absent thumb, Cr...	OMIM:603467
Cockayne Syndrome Type 3	Brain atrophy, Astrocytosis	ORPHA:90324
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive	Ankle flexion contracture, Reduced forced vital capacity, Respiratory insufficiency due to muscle...	OMIM:619461
Paroxysmal Nocturnal Hemoglobinuria	Decreased serum iron, Abnormal erythrocyte enzyme level, Jaundice, Dysphagia, Increased blood ure...	ORPHA:447
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Abdominal pain, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic...	OMIM:603903
Pseudo-Torch Syndrome 3	Apnea, Cerebral hemorrhage, Cardiomegaly, Increased circulating ferritin concentration, Leukocyto...	OMIM:618886
Keppen-Lubinsky Syndrome	Lack of facial subcutaneous fat, Decreased serum leptin, Flexion contracture, Absence of subcutan...	OMIM:614098
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia	OMIM:613091
Fucosidosis	Hepatomegaly, Decreased muscle mass, Lipoatrophy, Cardiomegaly, Hypothyroidism, Acrocyanosis, Fai...	ORPHA:349
Rett Syndrome	Increased serum pyruvate, Skeletal muscle atrophy, Hyperammonemia, Agitation, Cholecystitis, Incr...	ORPHA:778
Hypophosphatemic Rickets, Autosomal Recessive, 1	Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric...	OMIM:241520
Glycogen Storage Disease Due To Aldolase A Deficiency	Hemolytic anemia, Decreased muscle mass, Exercise-induced rhabdomyolysis, Hyperkalemia, Growth de...	ORPHA:57
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Intestinal bleeding, Gastrointestinal telangiectasia, Pulmonary fibrosis, Retinal telangiectasia	OMIM:612199
Juvenile Huntington Disease	Hyperactivity, Weight loss	ORPHA:248111
Serotonin Syndrome	Hypertension, Tachycardia, Hypotension	ORPHA:43116
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Long toe, Small for gestational age, Bicuspid aortic valve, Short stature, Aggressive behavior, S...	OMIM:613355
Refractory Celiac Disease	Elevated hepatic transaminase, Elevated alkaline phosphatase of bone origin, Hypomagnesemia, Weig...	ORPHA:398063
Tay-Sachs Disease	Aspiration	OMIM:272800
Desmoplastic Small Round Cell Tumor	Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Cachexia, Weight loss, As...	ORPHA:83469
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Recurrent respiratory infections, Short stature, Highly arched eyebrow, Cryptorchidism, Hypoxemia...	ORPHA:2282
Spinal Muscular Atrophy, Type Iv	Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ...	OMIM:271150
Uremic Pruritus	Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Elevated total serum tryptase, Increased ...	ORPHA:94059
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased proportion of cl...	OMIM:614878
Dextrocardia	Abnormal EKG, Congenital hip dislocation, Dextrocardia, Situs inversus totalis, Abnormality of th...	ORPHA:1666
Axial Osteomalacia	Myopathy, Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase conc...	OMIM:109130
Mirizzi Syndrome	Elevated hepatic transaminase, Abdominal colic, Tachycardia, Abdominal pain, Pancreatitis, Jaundi...	ORPHA:521219
Kikuchi-Fujimoto Disease	Elevated hepatic transaminase, Hepatomegaly, Fatigue, Splenomegaly, Myocarditis, Night sweats, Va...	ORPHA:50918
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Hyperammonemia, Hyperargininemia, Elevated plasma citrulline, Pancreatitis	OMIM:603471
Caffey Disease	Joint hypermobility, Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bon...	OMIM:114000
Kaposi Sarcoma	Abnormality of the spleen, Abnormality of the liver, Weight loss	ORPHA:33276
Cronkhite-Canada Syndrome	Splenomegaly, Hepatomegaly, Cachexia, Anorexia	ORPHA:2930
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Increased circulating interleukin 8 concentration, Failure to thrive in infancy, Recurrent pneumo...	OMIM:301220
Primary Myelofibrosis	Hepatomegaly, Anorexia, Portal hypertension, Cachexia, Splenomegaly, Hepatosplenomegaly, Increase...	ORPHA:824
Combined Oxidative Phosphorylation Defect Type 27	Pain, Ragged-red muscle fibers, Dysphagia	ORPHA:477774
Porphyria, Acute Intermittent	Hypertension, Tachycardia	OMIM:176000
Mitochondrial Dna-Related Progressive External Ophthalmoplegia	Respiratory insufficiency due to muscle weakness, Ragged-red muscle fibers, Restrictive ventilato...	ORPHA:663
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Short stature, Elevated circulating creatine kinase concentration, Centrally nucleated skeletal m...	OMIM:619518
Familial Dysautonomia	Hyponatremia, Hypertension, Orthostatic hypotension, Tachycardia	ORPHA:1764
Trichorhinophalangeal Syndrome, Type Ii	Scapular winging, Bicuspid aortic valve, Myocardial infarction, Bilateral cryptorchidism, Partial...	OMIM:150230
Kaposiform Lymphangiomatosis	Splenomegaly, Multiple renal cysts, Enlarged kidney, Hepatosplenomegaly	ORPHA:464329
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Recurrent respiratory infections, Abnormal acetabulum morphology, Apnea, Short stature, Supernume...	ORPHA:397715
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Neonatal respiratory distress, Tachycardia, Apnea, Retinal hemorrhage, Stridor, Hypertension, Bra...	OMIM:614653
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Hepatomegaly, Osteoporosis, Rickets, Type I diabetes mellitus, Failure to thrive	OMIM:560000
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Exercise intolerance, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration...	OMIM:616812
Wagro Syndrome	Multiple exostoses, Aggressive behavior, Obesity, Hypertension, Agitation, Compulsive behaviors, ...	OMIM:612469
Majeed Syndrome	Hepatomegaly, Cachexia, Splenomegaly, Flexion contracture, Weight loss, Failure to thrive	ORPHA:77297
Moynahan Syndrome	Hypogonadism, Cachexia	ORPHA:2574
Reticular Dysgenesis	Failure to thrive, Aplasia/Hypoplasia of the thymus, Weight loss	ORPHA:33355
Neurodegeneration And Seizures Due To Copper Transport Defect	Respiratory distress, Short femur, Tricuspid regurgitation, Cardiomegaly, Pneumothorax, Abnormal ...	OMIM:620306
Neuhauser Syndrome	Hypercholesterolemia	OMIM:249310
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612926
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Hypogonadotropic hypogonadism, Decreased response to growth hormone ...	ORPHA:226307
Capillary Malformation-Arteriovenous Malformation	Epistaxis, Abnormality of the musculature of the limbs, Facial capillary hemangioma, High-output ...	ORPHA:137667
Adrenal Hypoplasia, Congenital	Hyponatremia, Renal salt wasting	OMIM:300200
Caroli Syndrome	Liver abscess, Cholangitis, Abnormal intrahepatic bile duct morphology, Chills, Hepatomegaly, Por...	ORPHA:480520
Autosomal Recessive Polycystic Kidney Disease	Hyponatremia, Renal insufficiency, Recurrent urinary tract infections, Splenomegaly, Oliguria, St...	ORPHA:731
Menkes Disease	Inguinal hernia, Hypopigmentation of hair, Hypothermia, Woolly hair, Atypical scarring of skin, H...	ORPHA:565
Xfe Progeroid Syndrome	Elevated hepatic transaminase, Cachexia, Absence of subcutaneous fat, Defective DNA repair after ...	OMIM:610965
Lumbar Syndrome	Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen...	ORPHA:83628
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	HbH hemoglobin, Microcytic anemia	ORPHA:98791
Carnitine Palmitoyltransferase Ii Deficiency	Exercise intolerance, Hepatomegaly, Neonatal respiratory distress, Elevated circulating creatine ...	ORPHA:157
Congenital Left Ventricular Aneurysm	Apnea, Congestive heart failure, Abnormal ST segment, Abnormal left ventricle morphology, Abnorma...	ORPHA:1055
Bile Acid Conjugation Defect 1	Conjugated hyperbilirubinemia, Hepatomegaly, Rickets	OMIM:619232
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612924
Megalocornea-Intellectual Disability Syndrome	Hypercholesterolemia	ORPHA:2479
Supranuclear Palsy, Progressive, 2	Neurofibrillary tangles, Neuronal loss in central nervous system, Gliosis, Granulovacuolar degene...	OMIM:609454
Pmm2-Cdg	Osteopenia, Respiratory distress, Multiple joint contractures, Elevated circulating thyroid-stimu...	ORPHA:79318
Primary Unilateral Adrenal Hyperplasia	Decreased circulating renin level, Hypokalemia, Increased urinary potassium	ORPHA:231580
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3	Fatigue, Elevated circulating creatine kinase concentration, Skeletal muscle hypertrophy, Calf mu...	OMIM:613157
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression	Elevated circulating creatine kinase concentration, Ragged-red muscle fibers, Rhabdomyolysis, Hyp...	OMIM:618416
Moderate Hemophilia A	Arthropathy, Hip contracture, Epidural hemorrhage, Gastrointestinal hemorrhage, Cartilage destruc...	ORPHA:169805
Developmental And Epileptic Encephalopathy 38	Aspiration	OMIM:617020
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Uveitis, Conjunctivitis, Sparse hair, Absent eyebrow, Alopecia, Abnormal dental enamel morphology...	ORPHA:2273
Spinocerebellar Ataxia Type 8	Aspiration, Impotence	ORPHA:98760
Developmental And Epileptic Encephalopathy 95	Joint laxity, Hepatomegaly, Inguinal hernia, Multiple joint contractures, Short fourth metatarsal...	OMIM:618143
Nodular Non-Suppurative Panniculitis	Splenomegaly, Hepatomegaly, Panniculitis, Weight loss	ORPHA:33577
Dyskeratosis Congenita, Autosomal Dominant 3	Decreased DLCO, Cryptorchidism, Pulmonary fibrosis	OMIM:613990
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fan...	OMIM:220110
Tracheobronchopathia Osteochondroplastica	Recurrent respiratory infections, Pneumonia, Bronchitis, Chest tightness, Productive cough, Atele...	ORPHA:3348
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Respiratory distress, Skeletal muscle atrophy, Cerebral hemorrhage, Nemaline bodies, Abnormality ...	OMIM:620278
Opitz Gbbb Syndrome	Omphalocele, Enlarged ovaries, Inguinal hernia, Ventricular septal defect, Short stature, Congeni...	ORPHA:2745
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypertriglyceridemia, Laryngeal carcinoma, Carcinoma, Orthokeratotic hyperkeratosis, Palmoplantar...	OMIM:610644
Alzheimer Disease 3	Neurofibrillary tangles, Cerebral cortical atrophy	OMIM:607822
Hypophosphatemic Bone Disease	Short stature, Osteomalacia, Bowing of the legs, Rickets, Hypophosphatemia	OMIM:146350
Immunodeficiency 31A	Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent...	OMIM:614892
Oncogenic Osteomalacia	Renal phosphate wasting, Hyperphosphaturia, Hypocalcemia, Hypophosphatemia	ORPHA:352540
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Abnormal heart morphology, Pol...	ORPHA:314655
Striatonigral Degeneration, Infantile, Mitochondrial	Ragged-red muscle fibers, Motor tics	OMIM:500003
Endocrine-Cerebroosteodysplasia	Hyperechogenic kidneys, Hypospadias, Microphallus, Enlarged kidney	OMIM:612651
Spinocerebellar Ataxia 48	Cachexia, Dysphagia	OMIM:618093
Pheochromocytoma/Paraganglioma Syndrome 4	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:115310
Familial Multinodular Goiter	Hyperthyroidism, Multinodular goiter, Ovarian neoplasm, Thyroid carcinoma, Testicular seminoma, S...	ORPHA:276399
Huntington Disease-Like 2	Weight loss	OMIM:606438
Methylmalonic Aciduria, Cblb Type	Methylmalonic acidemia, Hepatomegaly, Hyperammonemia, Hyperglycinemia, Decreased methylmalonyl-Co...	OMIM:251110
Cryptococcosis	Respiratory distress, Lymphoid leukemia, Osteomyelitis, Pneumonia, Nodular pattern on pulmonary H...	ORPHA:1546
Lead Poisoning	Decreased HDL cholesterol concentration, Imbalanced hemoglobin synthesis, Abnormal T cell morphol...	ORPHA:330015
Glycogen Storage Disease Ixd	Exercise intolerance, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration...	OMIM:300559
Deafness-Lymphedema-Leukemia Syndrome	Splenomegaly, Hepatomegaly, Weight loss	ORPHA:3226
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Micromelia, Abnormal finger morphology, Short palm, Large iliac wing, Clinodactyly of...	ORPHA:2636
Alexander Disease Type I	Failure to thrive, Cachexia, Dysphagia	ORPHA:363717
Infantile Neuroaxonal Dystrophy	Hyperactivity, Impulsivity, Flexion contracture, Apneic episodes in infancy, Aspiration pneumonia...	ORPHA:35069
Diabetic Embryopathy	Ventricular septal defect, Cryptorchidism, Aplasia/Hypoplasia of the abdominal wall musculature, ...	ORPHA:1926
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15	Highly elevated creatine kinase, Myopathy, Increased variability in muscle fiber diameter, Centra...	OMIM:618992
Cushing Syndrome Due To Ectopic Acth Secretion	Adrenal hyperplasia, Pancreatoblastoma, Anorexia, Pituitary corticotropic cell adenoma, Pancreati...	ORPHA:99889
Abeta Amyloidosis, Dutch Type	Cerebral amyloid angiopathy	ORPHA:100006
Hyperlipoproteinemia, Type Id	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre...	OMIM:615947
Immunodeficiency 21	Osteomyelitis, Aplastic anemia, Myelodysplasia, Recurrent viral infections, B lymphocytopenia, Re...	OMIM:614172
Arboleda-Tham Syndrome	Respiratory distress, Bilateral cryptorchidism, Secundum atrial septal defect, Conjunctivitis, At...	OMIM:616268
Osteootohepatoenteric Syndrome	Microvesicular hepatic steatosis, Cholestasis, Weight loss, Hypokalemia, Portal fibrosis, Hepatic...	OMIM:619377
Amyotrophic Lateral Sclerosis 21	Respiratory insufficiency due to muscle weakness, Aspiration	OMIM:606070
Hereditary Sensory And Autonomic Neuropathy Type 4	Fasciitis, Painless fractures due to injury, Recurrent aspiration pneumonia, Self-mutilation, Ort...	ORPHA:642
Amyloidosis, Primary Localized Cutaneous, 2	Cutaneous amyloidosis	OMIM:613955
Neutropenia, Severe Congenital, X-Linked	Eczema, Recurrent bacterial infections, Neutropenia, Monocytopenia, Decreased CD4:CD8 ratio	OMIM:300299
Congenital Tufting Enteropathy	Weight loss, Cholestatic liver disease, Failure to thrive, Steatorrhea	ORPHA:92050
Orofaciodigital Syndrome Viii	Syndactyly, Short stature, Polydactyly, Short tibia, Hamartoma, Recurrent aspiration pneumonia	OMIM:300484
Agammaglobulinemia 9, Autosomal Recessive	Seborrheic dermatitis, Agammaglobulinemia, Recurrent bacterial infections, Eczematoid dermatitis,...	OMIM:619693
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Elevated hepatic transaminase, Fatigue, Granulomatous cholangitis, Cholestasis, Abnormal intrahep...	ORPHA:562639
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities	Aspiration, Neonatal respiratory distress, Polyhydramnios	OMIM:618922
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Complement Factor B Deficiency	Pneumonia, Peritonitis, Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease	OMIM:615561
Neurodegeneration With Brain Iron Accumulation 2B	Cerebellar atrophy, Neurofibrillary tangles, Cerebral atrophy, Neurodegeneration, Lewy bodies	OMIM:610217
Amoebiasis Due To Free-Living Amoebae	Myocardial necrosis, Unusual skin infection, Restlessness, Sinusitis, Stiff neck, Pneumonia, Faci...	ORPHA:68
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Recurrent respiratory infections, Short stature, Hyperlipidemia, Recurrent infections, Hyperuricemia	ORPHA:364
Aromatic L-Amino Acid Decarboxylase Deficiency	Temperature instability, Intermittent hypothermia, Hyperhidrosis	OMIM:608643
X-Linked Mandibulofacial Dysostosis	Short stature, Cryptorchidism, Pulmonic stenosis, Abnormal mitral valve morphology, Abnormality o...	ORPHA:1131
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Combined Oxidative Phosphorylation Deficiency 37	Bile duct proliferation, Hypothermia	OMIM:618329
Schinzel-Giedion Midface Retraction Syndrome	Increased density of long bones, Tibial bowing, Hepatoblastoma, Atrial septal defect, Sclerosis o...	OMIM:269150
Esophageal Atresia	Respiratory distress, Recurrent respiratory infections, Bronchitis, Polyhydramnios, Episodic resp...	ORPHA:1199
Spastic Paraplegia Type 7	Ragged-red muscle fibers, Abnormal mitochondrial morphology, Upper limb muscle weakness, Lower li...	ORPHA:99013
Hermansky-Pudlak Syndrome 10	Hepatomegaly, Recurrent respiratory infections, Apnea, Splenomegaly, Abnormal pulmonary interstit...	OMIM:617050
Mayer-Rokitansky-Küster-Hauser Syndrome	Hypoplasia of the vagina, Aplasia of the uterus	ORPHA:3109
Drug Reaction With Eosinophilia And Systemic Symptoms	Skin rash, Eosinophilia, Cardiac arrest, Pustule, Myocarditis, Dyspnea, Thyroiditis, Hepatitis, W...	ORPHA:139402
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Cerebral amyloid angiopathy	OMIM:176500
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Hypersplenism, Splenomegaly, Vasculitis, Hepatitis, Pulmonary fibrosis, Hepatocellu...	ORPHA:3261
Congenital Myopathy 9B, Proximal, With Minicore Lesions	Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Cryptorchidism,...	OMIM:618823
Focal Myositis	Myositis, Elevated circulating creatine kinase concentration, Weight loss	ORPHA:48918
Immunodeficiency 108 With Autoinflammation	Epistaxis, Abdominal pain, Hyposegmentation of neutrophil nuclei, Recurrent abscess formation, Re...	OMIM:260570
Scapuloperoneal Spinal Muscular Atrophy	Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle...	OMIM:181405
Thyroid Hypoplasia	Hypothyroidism, Thyroid hypoplasia	ORPHA:95720
Fructose Intolerance, Hereditary	Elevated hepatic transaminase, Hepatomegaly, Transient aminoaciduria, Hypoglycemia, Jaundice, Bic...	OMIM:229600
Neonatal Inflammatory Skin And Bowel Disease	Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Pustule, Horizontal ey...	ORPHA:294023
Alpha-N-Acetylgalactosaminidase Deficiency	Recurrent pneumonia, Cardiomegaly	ORPHA:3137
Familial Aortic Dissection	Aortic regurgitation, Cardiomegaly, Descending thoracic aorta aneurysm, Descending aortic dissect...	ORPHA:229
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus	ORPHA:2736
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Conjunctival telangiectasia, Multinodular goiter	OMIM:618373
Semilobar Holoprosencephaly	Central apnea, Diabetes insipidus, Decreased response to growth hormone stimulation test, Short s...	ORPHA:220386
Alobar Holoprosencephaly	Central apnea, Diabetes insipidus, Decreased response to growth hormone stimulation test, Short s...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Central apnea, Diabetes insipidus, Decreased response to growth hormone stimulation test, Short s...	ORPHA:93926
Lobar Holoprosencephaly	Central apnea, Diabetes insipidus, Decreased response to growth hormone stimulation test, Short s...	ORPHA:93924
Neurooculocardiogenitourinary Syndrome	Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atria...	OMIM:618652
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Neonatal respiratory distress, Elevated circulating creatine kinase concentration, ...	ORPHA:228308
Vocal Cord And Pharyngeal Distal Myopathy	Respiratory insufficiency due to muscle weakness, Aspiration	ORPHA:600
Thyroid Ectopia	Abnormality of the thyroid gland, Hypothyroidism, Ectopic thyroid	ORPHA:95712
Familial Colorectal Cancer Type X	Neoplasm of the pancreas, Pancreatic adenocarcinoma, Abnormal circulating creatine concentration,...	ORPHA:440437
Ciliary Dyskinesia, Primary, 1	Pneumonia, Asplenia, Absent outer dynein arms, Atelectasis, Situs inversus totalis, Bronchiectasi...	OMIM:244400
Miller-Dieker Lissencephaly Syndrome	Omphalocele, Inguinal hernia, Failure to thrive, Cryptorchidism, Abnormal heart morphology, Polyd...	OMIM:247200
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Neonatal sepsis, Decreased circulating cortisol level, Adrenal hyperplasia, Endomet...	ORPHA:90790
Van Buchem Disease	Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones	OMIM:239100
Acute Intermittent Porphyria	Hyponatremia, Hypertension, Tachycardia	ORPHA:79276
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Pancytopenia, Steatorrhea, Persistence of hemoglobin F, Anemia, Neutropen...	OMIM:260400
Osteosarcoma	Increased circulating lactate dehydrogenase concentration, Elevated circulating alkaline phosphat...	ORPHA:668
Arima Syndrome	Hepatomegaly, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedu...	OMIM:243910
Mcdonough Syndrome	Aplasia/Hypoplasia of the abdominal wall musculature, Cachexia	ORPHA:2471
Myeloma, Multiple	Amyloidosis	OMIM:254500
Alexander Disease	Hypothyroidism, Hypothermia, Hyperhidrosis	ORPHA:58
Faciocardiomelic Syndrome	Osteopenia, Large for gestational age, Slender long bone, Polydactyly, Short eyelashes, Hypoplast...	OMIM:612731
Gangliocytoma	Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar...	ORPHA:251937
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Skeletal muscle atrophy, Aminoaciduria, Elevated circulating creatine kinase concentration, Cachexia	ORPHA:1933
Multicentric Reticulohistiocytosis	Cachexia	ORPHA:139436
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Decreased circulating renin level, Hypokalemia, Increased urinary potassium	ORPHA:231625
Townes-Brocks Syndrome 2	Rectovaginal fistula, Hypospadias, Bifid uterus	OMIM:617466
Friedreich Ataxia	Abnormal EKG, Hypertrophic cardiomyopathy, Diabetes mellitus, Congestive heart failure	OMIM:229300
Mitochondrial Complex I Deficiency, Nuclear Type 21	Growth delay, Myopathy, Ragged-red muscle fibers	OMIM:618242
Choreoacanthocytosis	Elevated circulating creatine kinase concentration, Peroneal muscle atrophy, Compulsive behaviors...	ORPHA:2388
Tubular Aggregate Myopathy	Centrally nucleated skeletal muscle fibers, Type 2 muscle fiber atrophy, EMG: myopathic abnormali...	ORPHA:2593
Acute Myelomonocytic Leukemia	Weight loss	ORPHA:517
Combined Oxidative Phosphorylation Deficiency 49	Exercise intolerance, Ragged-red muscle fibers, Myalgia, Elevated circulating creatine kinase con...	OMIM:619024
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome	Heart block, Premature ventricular contraction	ORPHA:1964
Klatskin Tumor	Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Weight loss	ORPHA:99978
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Bicuspid aortic valve, Urinary incontinence, Asplenia, Flexion contracture, Calcaneovalgus deform...	ORPHA:261537
Kearns-Sayre Syndrome	Hypoparathyroidism, Sideroblastic anemia, Diabetes mellitus, Short stature, Ragged-red muscle fib...	OMIM:530000
Primary Sjögren Syndrome	Fatigue, Chronic active hepatitis, Lymphocytic interstitial pneumonia, Bronchitis, Raynaud phenom...	ORPHA:289390
Tatton-Brown-Rahman Syndrome	Myeloid leukemia, Tricuspid regurgitation, Mitral regurgitation, Supraventricular tachycardia wit...	ORPHA:404443
Ehlers-Danlos Syndrome, Classic-Like	Quadricuspid aortic valve, Increased connective tissue, Hiatus hernia, Mitral valve prolapse, Pro...	OMIM:606408
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Elevated amniotic fluid alpha-fetoprotein, HbH hemoglobin	ORPHA:423479
Huntington Disease-Like 1	Restlessness, Weight loss	ORPHA:157941
Griscelli Syndrome Type 2	Hepatomegaly, Hypopigmentation of hair, Pancytopenia, Splenomegaly, Hyperlipidemia, Premature gra...	ORPHA:79477
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Hip contracture, Facial hypotonia, Failure to thrive in infancy, Cachexia	OMIM:616801
Nephrotic Syndrome, Type 1	Neonatal respiratory distress, Small for gestational age, Hypothyroidism, Hyperlipidemia, Recurre...	OMIM:256300
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:617101
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h...	OMIM:619374
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Pulmonary embolism	ORPHA:745
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Arrhythmia, Paroxysmal supraventricular tachycardia, Pulmonic stenosis	OMIM:617877
Mitochondrial Complex Iii Deficiency, Nuclear Type 4	Restlessness, Ragged-red muscle fibers	OMIM:615159
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Dyspepsia, Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Diffuse leiomyomato...	ORPHA:1018
Methylmalonic Aciduria, Cbla Type	Methylmalonic acidemia, Hepatomegaly, Hyperammonemia, Hyperglycinemia, Decreased methylmalonyl-Co...	OMIM:251100
Lynch Syndrome	Neoplasm of the pancreas, Pancreatic adenocarcinoma, Pituitary adenoma, Flexion contracture, Weig...	ORPHA:144
Severe Acute Respiratory Syndrome	Respiratory distress, Respiratory failure requiring assisted ventilation, Diabetes mellitus, Dysp...	ORPHA:140896
Cystic Fibrosis	Osteopenia, Recurrent Aspergillus infections, Recurrent respiratory infections, Sinusitis, Recurr...	ORPHA:586
Fumarase Deficiency	Reduced subcutaneous adipose tissue, Decreased fumarate hydratase activity, Intrahepatic cholesta...	OMIM:606812
Pagod Syndrome	Omphalocele, Short stature, Congenital diaphragmatic hernia, Sudden cardiac death, Situs inversus...	ORPHA:991
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Increased circulating IgA level, Reduced natural killer cell activity, Seve...	OMIM:300291
Craniotubular Dysplasia, Ikegawa Type	Metaphyseal dysplasia, Thin bony cortex, Ventricular septal defect, Short stature, Broad ischia, ...	OMIM:619727
Classic Pantothenate Kinase-Associated Neurodegeneration	Dysphagia, Weight loss, Increased susceptibility to fractures, Attention deficit hyperactivity di...	ORPHA:216866
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Thyroid dysgenesis, Thyroid agenesis, Cryptorchidism, Ectopic thyroid, Failure to thrive, Hypothy...	ORPHA:3047
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Hip contracture, Cachexia, Elbow flexion contracture, Knee flexion contracture, Self-injurious be...	ORPHA:371364
Sturge-Weber Syndrome	Conjunctival telangiectasia, Pulmonary embolism, Visceral angiomatosis, Hyperostosis, Capillary h...	ORPHA:3205
Creatine Phosphokinase, Elevated Serum	Fatigue, Elevated circulating creatine kinase concentration, Abnormal muscle fiber morphology, My...	OMIM:123320
Orofaciodigital Syndrome Ix	Toe syndactyly, Short stature, Hand polydactyly, Camptodactyly, Short tibia, Hamartoma, Recurrent...	OMIM:258865
Early-Onset Autosomal Dominant Alzheimer Disease	Neurofibrillary tangles, Cerebral cortical atrophy	ORPHA:1020
Waardenburg Syndrome Type 2	Premature graying of hair, Hypopigmentation of hair, White forelock, Abnormality of the pulmonary...	ORPHA:895
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Osteopenia, Bicuspid aortic valve, Atrial septal defect, Hypothyroidism, Joint laxity, Sagittal c...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Osteopenia, Bicuspid aortic valve, Atrial septal defect, Hypothyroidism, Joint laxity, Sagittal c...	ORPHA:352665
Hirschsprung Disease	Neoplasm of the thyroid gland, Failure to thrive in infancy, Weight loss	ORPHA:388
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Weight loss, Panniculitis, Hepatosplenomegaly	ORPHA:86884
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
Alternating Hemiplegia Of Childhood	Respiratory distress, Apnea, Cardiac conduction abnormality, Abnormal T-wave, Dehydration, Cardio...	ORPHA:2131
Juvenile Amyotrophic Lateral Sclerosis	Skeletal muscle atrophy, Urinary incontinence, Cachexia, Upper-limb joint contracture, Lower-limb...	ORPHA:300605
Homozygous Familial Hypercholesterolemia	Angina pectoris, Myocardial infarction, Sudden cardiac death, Hyperlipidemia, Heart murmur, Incre...	ORPHA:391665
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Hepatomegaly, Skeletal muscle atrophy, Limb joint contracture, Short stature, Tapered finger, Seb...	OMIM:301072
Ciliary Dyskinesia, Primary, 42	Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat...	OMIM:618695
Holocarboxylase Synthetase Deficiency	Weight loss, Hyperammonemia, Anorexia	ORPHA:79242
Tay-Sachs Disease	Skeletal muscle atrophy, Hip flexor weakness, Increased serum beta-hexosaminidase, Quadriceps mus...	ORPHA:845
Endosteal Hyperostosis, Autosomal Dominant	Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal endosteal sclerosis, ...	OMIM:144750
Hereditary Late-Onset Parkinson Disease	Lewy bodies, Gliosis, Cerebral cortical atrophy	ORPHA:411602
Gm2-Gangliosidosis, Ab Variant	Aspiration	OMIM:272750
Mohr-Tranebjaerg Syndrome	Agammaglobulinemia, Attention deficit hyperactivity disorder, Aspiration pneumonia, Dysphagia	ORPHA:52368
Cowden Syndrome	Follicular thyroid carcinoma, Enlarged polycystic ovaries, Abnormality of the thyroid gland, Aden...	ORPHA:201
Geleophysic Dysplasia 3	Epiphyseal dysplasia, Hepatomegaly, Short stature, Pneumonia, Limited elbow movement, Limited wri...	OMIM:617809
Griscelli Syndrome Type 1	Premature graying of hair, Hyperlipidemia, White hair	ORPHA:79476
Leukocyte Adhesion Deficiency, Type I	Recurrent gram-negative bacterial infections, Osteomyelitis, Recurrent staphylococcal infections,...	OMIM:116920
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ...	OMIM:600802
Immunodeficiency 27B	Recurrent mycobacterial infections, Osteomyelitis, Recurrent mycobacterium avium complex infectio...	OMIM:615978
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyponatremia, Hypospadias, Renal salt wasting, Hyperkalemia, Increased circulating renin level, P...	ORPHA:90791
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bicuspid aortic valve, Urinary incontinence, Asplenia, Flexion contracture, Calcaneovalgus deform...	ORPHA:261552
Bannayan-Riley-Ruvalcaba Syndrome	Neoplasm of the adrenal cortex, Skeletal muscle atrophy, Hypoglycemia, Cachexia, Myopathy, Thyroi...	ORPHA:109
Renal Tubular Acidosis, Distal, 1	Osteomalacia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia, Pathologi...	OMIM:179800
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Gangrene, Pulmonary embolism	ORPHA:743
Amyloidosis, Cutaneous Bullous	Amyloidosis	OMIM:204900
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Short stature, Elevated circulating creatine kinase concentratio...	OMIM:611881
Digeorge Syndrome	Parathyroid agenesis, Parathyroid hypoplasia, Hydrocele testis, Ovarian cyst, Hypoplasia of the t...	OMIM:188400
Combined Oxidative Phosphorylation Deficiency 41	Decreased circulating cortisol level, Elevated circulating creatine kinase concentration, Cardiom...	OMIM:618838
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Abnormal circulating carnitine concentration, Aspiration pneumonia, Decreased circulating carniti...	ORPHA:431361
Cerebral Amyloid Angiopathy, App-Related	Cerebral amyloid angiopathy	OMIM:605714
Nephroblastoma	Neoplasm of the liver, Weight loss	ORPHA:654
X-Linked Severe Congenital Neutropenia	Monocytopenia, Recurrent bacterial infections, Neutropenia	ORPHA:86788
Complement Factor I Deficiency	Recurrent urinary tract infections, Recurrent skin infections, Glomerulonephritis, Vasculitis, Re...	OMIM:610984
Benign Samaritan Congenital Myopathy	Internally nucleated skeletal muscle fibers, Abnormal respiratory system physiology, Centrally nu...	ORPHA:324581
Mitochondrial Complex I Deficiency, Nuclear Type 1	Exercise intolerance, Hepatomegaly, Skeletal muscle atrophy, Cyanosis, Apnea, Splenomegaly, Ragge...	OMIM:252010
Myotubular Myopathy With Abnormal Genital Development	Respiratory distress, Unilateral cryptorchidism, Centrally nucleated skeletal muscle fibers, Bila...	OMIM:300219
Acute Monoblastic/Monocytic Leukemia	Increased circulating lactate dehydrogenase concentration, Weight loss, Anorexia, Central hypothy...	ORPHA:514
Beck-Fahrner Syndrome	Facial hypotonia, Ventricular septal defect, Cardiomegaly, Hip dysplasia, Attention deficit hyper...	OMIM:618798
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Nephroblastoma, Bifid ureter, Enlarged kidney	ORPHA:500095
Neuropathy, Congenital Hypomyelinating, 3	Limb joint contracture, Cachexia, Flexion contracture, Facial diplegia, Arthrogryposis multiplex ...	OMIM:618186
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development	Amyloidosis	OMIM:204850
Renal Cysts And Diabetes Syndrome	Elevated hepatic transaminase, Diabetes mellitus, Impaired glucose tolerance, Maturity-onset diab...	OMIM:137920
Tibial Muscular Dystrophy, Tardive	EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles	OMIM:600334
Immunodeficiency 40	Hepatomegaly, Respiratory tract infection, Severe varicella zoster infection, Recurrent pneumonia...	OMIM:616433
Malignant Peritoneal Mesothelioma	Peritonitis, Ascites, Weight loss	ORPHA:168811
Parkes Weber Syndrome	Abnormal femoral metaphysis morphology, Back pain, Subarachnoid hemorrhage, Hemangiomatosis, High...	ORPHA:90307
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Arrhythmia, Elevated circulating creatine kinase concentration, Left bundle branch block, Ventric...	OMIM:610131
Amyotrophic Lateral Sclerosis 27, Juvenile	Scapular winging, Quadriceps muscle atrophy, Angulated muscle fibers, Respiratory insufficiency, ...	OMIM:620285
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Centrally nucleated skeletal muscle fibers, Night sweats, Intrinsic hand muscle atrophy, Stridor,...	OMIM:619574
Cerebral Amyloid Angiopathy, Cst3-Related	Generalized amyloid deposition	OMIM:105150
Amyloidosis, Primary Localized Cutaneous, 1	Amyloidosis	OMIM:105250
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Bronchiolitis obliterans	OMIM:617241
Gerstmann-Straussler Disease	Neurofibrillary tangles, Cerebellar atrophy	OMIM:137440
Neuromuscular Oculoauditory Syndrome	Respiratory distress, Elevated circulating creatine kinase concentration, Knee flexion contractur...	OMIM:618733
Meacham Syndrome	Enlarged kidney, Horseshoe kidney	OMIM:608978
Pallister-Hall Syndrome	Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st...	OMIM:146510
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:619769
Familial Multiple Nevi Flammei	Intracranial hemorrhage, Arrhythmia, Pulmonary embolism	ORPHA:624
Schimmelpenning-Feuerstein-Mims Syndrome	Hypophosphatemic rickets, Hyperphosphaturia, Horseshoe kidney	OMIM:163200
Lissencephaly Type 1 Due To Doublecortin Gene Mutation	Aspiration	ORPHA:2148
Dementia, Lewy Body	Lewy bodies	OMIM:127750
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy...	ORPHA:103910
Pancreatic Triacylglycerol Lipase Deficiency	Fatigue, Osteomalacia, Abdominal pain, Rickets, Osteoporosis, Weight loss, Growth delay, Iron def...	ORPHA:309031
Pontine Tegmental Cap Dysplasia	Aspiration	OMIM:614688
Osteopetrosis, Autosomal Dominant 1	Generalized osteosclerosis, Mandibular pain, Abnormal pelvic girdle bone morphology, Osteopetrosi...	OMIM:607634
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries	Central core regions in muscle fibers, Muscular dystrophy	OMIM:159050
Giant Cell Arteritis	Hepatic failure, Diabetes insipidus, Anorexia, Weight loss	ORPHA:397
Parkinsonian-Pyramidal Syndrome	Lewy bodies, Substantia nigra gliosis	ORPHA:171695
Arteriovenous Malformations Of The Brain	Cerebral arteriovenous malformation	OMIM:108010
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Elevated circulating deoxyuridine concentration, Cachexia, Ragged-red muscle fibers, Weight loss,...	OMIM:603041
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Hyponatremia, Renal salt wasting, Hyperkalemia, Abnormal urine potassium concentration, Hypernatr...	ORPHA:168558
Acute Radiation Syndrome	Fatigue, Inflammatory abnormality of the skin, Telangiectasia, Hyperkeratosis, Interstitial pneum...	ORPHA:454831
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Septate vagina, Uterus didelphys, Parathyroid hypoplasia, Aplasia of the uter...	ORPHA:2237
Renal Tubular Acidosis Iii	Hypokalemia, Rickets, Osteomalacia	OMIM:267200
Niemann-Pick Disease, Type C1	Neurofibrillary tangles, Neuronal loss in central nervous system	OMIM:257220
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Acquired Hypertrichosis Lanuginosa	Macroglossia, Weight loss	ORPHA:2221
Amyloidosis, Familial Visceral	Generalized amyloid deposition	OMIM:105200
Mounier-Kühn Syndrome	Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis	ORPHA:3347
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Weight loss, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Ascites, Hypopro...	ORPHA:90362
Oromandibular Dystonia	Torticollis, Weight loss, Dysphagia, Bruxism	ORPHA:93958
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Respiratory distress, Anorexia, Oral-pharyngeal dysphagia, Sepsis, Gastrointestinal inflammation,...	ORPHA:95455
Multiple Endocrine Neoplasia, Type Iib	Failure to thrive in infancy, Pheochromocytoma, Elevated circulating calcitonin concentration, Pa...	OMIM:162300
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Hyponatremia, Renal salt wasting, Hyperkalemia, Abnormal urine potassium concentration, Hypernatr...	ORPHA:289548
Thymoma	Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis	ORPHA:99867
Lethal Congenital Contracture Syndrome 9	Elbow extension contracture, Ulnar deviation of the hand, Centrally nucleated skeletal muscle fib...	OMIM:616503
Combined Oxidative Phosphorylation Deficiency 24	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Ragged-red muscle fi...	OMIM:616239
Peritoneal Cystic Mesothelioma	Peritonitis, Weight loss	ORPHA:168816
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Respiratory failure requiring assisted ventilation, Thoracic aortic aneurysm, Peritonitis, Pyelon...	OMIM:619351
Ménétrier Disease	Hypoproteinemia, Hypoalbuminemia, Anorexia, Weight loss	ORPHA:2494
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Exercise intolerance, Elevated circulating creatine kinase concentration, Elevated circulating ac...	ORPHA:228302
Peters Plus Syndrome	Micromelia, Bicuspid pulmonary valve, Abnormal pulmonary vein morphology, Clinodactyly of the 5th...	ORPHA:709
Ileal Neuroendocrine Tumor	Elevated hepatic transaminase, Extrahepatic cholestasis, Weight loss, Small intestine carcinoid, ...	ORPHA:100078
Chromosome 22Q13 Duplication Syndrome	Attention deficit hyperactivity disorder, Polyphagia, Impulsivity	OMIM:615538
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Hypocalciuria, Hypophosphaturia	ORPHA:73223
Plague	Respiratory distress, Chapped lip, Anorexia, Lymphadenitis, Sepsis, Acute infectious pneumonia, I...	ORPHA:707
Thymic Carcinoma	Neoplasm of the thymus, Weight loss	ORPHA:99868
Dyskeratosis Congenita, X-Linked	Cryptorchidism, Restrictive ventilatory defect, Pulmonary fibrosis, Cirrhosis, Decreased testicul...	OMIM:305000
Alkaptonuria	Joint dislocation, Myocardial infarction, Joint stiffness, Cartilage destruction, Osteoarthritis,...	ORPHA:56
Aneurysm Of Sinus Of Valsalva	Aortic regurgitation, Congestive heart failure, Dyspnea, Heart murmur, Chest pain, Bacterial endo...	ORPHA:1054
Neurodegeneration With Brain Iron Accumulation 4	Abnormal lower motor neuron morphology, Lewy bodies, Cerebellar atrophy, Neurodegeneration	OMIM:614298
Bardet-Biedl Syndrome 20	Hypercholesterolemia	OMIM:619471
Progressive Multifocal Leukoencephalopathy	Abnormal astrocyte morphology, Abnormal oligodendroglia morphology	ORPHA:217260
Opitz Gbbb Syndrome	Aspiration, Cryptorchidism	OMIM:300000
Camurati-Engelmann Disease	Hepatomegaly, Skeletal muscle atrophy, Facial palsy, Anorexia, Cachexia, Splenomegaly, Abnormal s...	ORPHA:1328
Combined Oxidative Phosphorylation Deficiency 25	Syndactyly, Short stature, Intraventricular hemorrhage, Aspiration pneumonia, Failure to thrive, ...	OMIM:616430
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory...	OMIM:620296
Spinocerebellar Ataxia 28	Lower limb hypertonia, Ragged-red muscle fibers	OMIM:610246
Amyotrophic Lateral Sclerosis 20	Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles	OMIM:615426
Limb-Mammary Syndrome	Absent nipple, Primary amenorrhea, Bilateral breast hypoplasia, Breast aplasia, Hypoplastic nippl...	ORPHA:69085
Perry Syndrome	Weight loss	ORPHA:178509
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Hypomethioninemia, Decreased methionine synthase activity, Cystathioninur...	OMIM:277400
Perry Syndrome	Inappropriate behavior, Disinhibition, Weight loss	OMIM:168605
Polyarteritis Nodosa	Elevated circulating C-reactive protein concentration, Weight loss	ORPHA:767
Kenny-Caffey Syndrome, Type 2	Hypoparathyroidism, Transient hypophosphatemia, Increased bone mineral density, Severe short stat...	OMIM:127000
Inflammatory Bowel Disease (Crohn Disease) 1	Weight loss	OMIM:266600
Laryngotracheoesophageal Cleft Type 4	Abnormality of the spleen, Abnormal mesentery morphology, Cachexia	ORPHA:93941
Double Outlet Left Ventricle	Double outlet left ventricle, Cyanosis, Ventricular septal defect, Cardiomegaly, Cryptorchidism, ...	ORPHA:3427
Ring Chromosome 10 Syndrome	Hypocalcemia, Cachexia	ORPHA:1438
D-Glyceric Aciduria	Hyperglycinemia, Nonketotic hyperglycinemia, Increased circulating free fatty acid level	ORPHA:941
8P23.1 Microdeletion Syndrome	Attention deficit hyperactivity disorder, Obesity, Congenital diaphragmatic hernia, Weight loss	ORPHA:251071
X-Linked Intellectual Disability, Cabezas Type	Hyperactivity, Inguinal hernia, Camptodactyly of finger, Cachexia, Aggressive behavior, Obesity, ...	ORPHA:85293
Native American Myopathy	Joint laxity, Skeletal muscle atrophy, Short stature, Cryptorchidism, Abnormality of skeletal mus...	ORPHA:168572
Palmoplantar Carcinoma, Multiple Self-Healing	Cutaneous macular amyloidosis, Amyloidosis	OMIM:615225
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Dilated cardiomyopathy, Flexion contracture, Foot joint contracture	ORPHA:79408
Toxic Epidermal Necrolysis	Acute hepatic failure, Elevated hepatic transaminase, Weight loss, Dysphagia, Polydipsia, Pancrea...	ORPHA:537
Halperin-Birk Syndrome	Aspiration	OMIM:618651
Rheumatoid Arthritis	Digital flexor tenosynovitis, Elevated circulating C-reactive protein concentration, Weight loss	OMIM:180300
Idiopathic Camptocormia	Amyotrophic lateral sclerosis, Lewy bodies, Cerebral atrophy	ORPHA:1320
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Ventricular septal defect, Short stature, Bilateral cryptorchidism, Recurrent pneumonia, Recurren...	OMIM:300472
Kabuki Syndrome 1	Congenital hip dislocation, Premature thelarche, Atrial septal defect, Prominent fingertip pads, ...	OMIM:147920
Chronic Graft Versus Host Disease	Fasciitis, Anorexia, Flexion contracture, Arthralgia, Cough, Alopecia, Abdominal pain, Bronchiect...	ORPHA:99921
Rett Syndrome, Congenital Variant	Aspiration	OMIM:613454
Cockayne Syndrome	Elevated hepatic transaminase, Hepatomegaly, Reduced subcutaneous adipose tissue, Diabetes mellit...	ORPHA:191
Parkinson Disease 18, Autosomal Dominant, Susceptibility To	Lewy bodies	OMIM:614251
Familial Adenomatous Polyposis	Pancreatic adenocarcinoma, Abnormality of the thyroid gland, Pituitary adenoma, Thyroiditis, Neop...	ORPHA:733
Acquired Central Diabetes Insipidus	Polydipsia, Diabetes insipidus, Weight loss	ORPHA:95626
Parkinson Disease 21	Lewy bodies	OMIM:616361
Sandhoff Disease	Hepatomegaly, Orthostatic hypotension, Skeletal muscle atrophy, Urinary incontinence, Cardiomegal...	OMIM:268800
Paternal Uniparental Disomy Of Chromosome 6	Joint laxity, Hepatomegaly, Neonatal respiratory distress, Neonatal insulin-dependent diabetes me...	ORPHA:96191
Developmental And Epileptic Encephalopathy 100	Recurrent respiratory infections, Aspiration	OMIM:619777
Parkinson Disease 4, Autosomal Dominant	Lewy bodies	OMIM:605543
Gaucher Disease, Type Ii	Hepatomegaly, Apnea, Double aortic arch, Cough, Splenomegaly, Anemia, Stridor, Dysphagia, Bronchi...	OMIM:230900
Stevens-Johnson Syndrome	Acute hepatic failure, Elevated hepatic transaminase, Weight loss, Dysphagia, Pancreatitis	ORPHA:36426
Bickerstaff Brainstem Encephalitis	Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Facial palsy, Respira...	ORPHA:79138
X-Linked Creatine Transporter Deficiency	Abnormal circulating creatine concentration, Hyperactivity, Self-mutilation, Cachexia	ORPHA:52503
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Rickets, Recurrent fractures, Short stature	OMIM:268315
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cachexia, Anorexia, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:175500
Immunodeficiency 67	Transient neutropenia, Liver abscess, Recurrent staphylococcal infections, Increased circulating ...	OMIM:607676
Goodpasture Syndrome	Weight loss, Cyanosis, Increased blood urea nitrogen	OMIM:233450
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Camptodactyly of finger, Cachexia	ORPHA:2774
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Exercise intolerance, Skeletal muscle atrophy, Hypergonadotropic hypogonadism, Facial palsy, Ragg...	OMIM:157640
Pancreatic insufficiency, combined exocrine	Congestive heart failure, Hypoproteinemia	OMIM:260450
Rett Syndrome	Skeletal muscle atrophy, Cachexia, Stereotypical hand wringing, Bruxism	OMIM:312750
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Abnormal hemoglobin, Anemia	ORPHA:847
Primary Progressive Freezing Gait	Lewy bodies, Cerebral cortical atrophy	ORPHA:75567
Doors Syndrome	Respiratory distress, Adrenal hyperplasia, Aplasia/Hypoplasia of the phalanges of the 2nd toe, Sa...	ORPHA:79500
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss	ORPHA:312
Phace Syndrome	Agenesis of corpus callosum, Cerebral arteriovenous malformation	ORPHA:42775
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Cachexia	ORPHA:1389
Johanson-Blizzard Syndrome	Hepatomegaly, Ventricular septal defect, Portal hypertension, Situs inversus totalis, Cryptorchid...	OMIM:243800
Tetrasomy 12P	Cachexia	ORPHA:884
Combined Oxidative Phosphorylation Deficiency 12	Ragged-red muscle fibers, Hepatomegaly, Failure to thrive, Elevated circulating alpha-fetoprotein...	OMIM:614924
Acute Promyelocytic Leukemia	Addictive alcohol use, Anorexia, Weight loss	ORPHA:520
Spinocerebellar Ataxia Type 7	Congestive heart failure, Restless legs, Failure to thrive, Dysphagia	ORPHA:94147
Inflammatory Bowel Disease 11	Weight loss	OMIM:191390
Igg4-Related Aortitis	Elevated circulating C-reactive protein concentration, Weight loss	ORPHA:449400
Adult-Onset Dystonia-Parkinsonism	Neurofibrillary tangles, Frontotemporal cerebral atrophy, Generalized cerebral atrophy/hypoplasia	ORPHA:199351
Fatal Familial Insomnia	Weight loss, Dysphagia	OMIM:600072
Combined Deficiency Of Factor V And Factor Viii	Gastrointestinal hemorrhage, Epistaxis, Hyperlipidemia, Intracranial hemorrhage, Hyperuricemia, J...	ORPHA:35909
Idiopathic Trachyonychia	Amyloidosis	ORPHA:79153
Oeis Complex	Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal fistula, Amb...	OMIM:258040
Infantile Krabbe Disease	Abnormal circulating enzyme concentration or activity, Failure to thrive, Shoulder girdle muscle ...	ORPHA:206436
Autoimmune Polyendocrinopathy Type 4	Hepatitis, Aplasia/Hypoplasia of the spleen, Biliary cirrhosis, Abnormal pulmonary interstitial m...	ORPHA:227990
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:301040
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Multiple Myeloma	Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Weight loss, Hyperpro...	ORPHA:29073
Oxoglutaric Aciduria	Abnormality of Krebs cycle metabolism, Skeletal muscle atrophy	ORPHA:31
Cleft Velum	Recurrent otitis media, Aspiration pneumonia, Oral-pharyngeal dysphagia	ORPHA:99772
Pulmonary Non-Tuberculous Mycobacterial Infection	Weight loss	ORPHA:411703
Glucose-Galactose Malabsorption	Failure to thrive, Hypernatremia, Hypercalcemia, Weight loss	ORPHA:35710
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Elevated circulating C-reactive protein concentration, Weight loss	ORPHA:324964
Autoimmune Polyendocrinopathy Type 3	Hepatitis, Aplasia/Hypoplasia of the spleen, Biliary cirrhosis, Abnormal pulmonary interstitial m...	ORPHA:227982
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Increased endomysial connective tissue, Flexion contracture, Elevated circulating creatine kinase...	OMIM:613154
Opsismodysplasia	Renal phosphate wasting, Hypophosphatemia	OMIM:258480
Cap Polyposis	Weight loss	ORPHA:160148
Lissencephaly Due To Lis1 Mutation	Neonatal hyperbilirubinemia, Aspiration pneumonia	ORPHA:95232
Waisman Syndrome	Lewy bodies	OMIM:311510
Cardiac-Urogenital Syndrome	Enlarged kidney, Micropenis, Penoscrotal hypospadias, Patent urachus	OMIM:618280
Neuroblastoma, Susceptibility To, 1	Failure to thrive, Abdominal mass, Weight loss	OMIM:256700
Pancreatoblastoma	Jaundice, Pancreatic calcification, Elevated maternal serum alpha-fetoprotein, Weight loss	ORPHA:677
Caribbean Parkinsonism	Lewy bodies, Cerebral cortical atrophy	ORPHA:97355
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Pneumonia	OMIM:608033
Pemphigus Vulgaris	Atypical scarring of skin, Weight loss	ORPHA:704
Oculogastrointestinal Muscular Dystrophy	Skeletal muscle atrophy, Myopathy, Cachexia	ORPHA:1876
Branchiootorenal Syndrome 1	Euthyroid goiter	OMIM:113650
Yao Syndrome	Weight loss	OMIM:617321
Phace Association	Lingual thyroid, Congenital hypothyroidism	OMIM:606519
Liposarcoma	Weight loss	ORPHA:69078
Periodic Fever, Familial, Autosomal Dominant	AA amyloidosis, Hepatic amyloidosis	OMIM:142680
Hereditary Leiomyomatosis And Renal Cell Cancer	Uterine leiomyosarcoma, Cutaneous leiomyosarcoma, Decreased fumarate hydratase activity	OMIM:150800
Cranioectodermal Dysplasia 1	Hepatomegaly, Renal magnesium wasting, Chronic kidney disease, Stage 5 chronic kidney disease, Tu...	OMIM:218330
Acrodermatitis Enteropathica	Failure to thrive, Anorexia, Weight loss	ORPHA:37
Pelizaeus-Merzbacher Disease	Failure to thrive in infancy, Cachexia	ORPHA:702
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Weight loss, Flexion contracture, Enthesitis, Hepatosplenomegaly	ORPHA:85408
Glossopharyngeal Neuralgia	Weight loss, Oral-pharyngeal dysphagia	ORPHA:221098
19Q13.11 Microdeletion Syndrome	Failure to thrive, Cachexia	ORPHA:217346
Bilateral Perisylvian Polymicrogyria	Aspiration, Apnea	ORPHA:98889
Niemann-Pick Disease Type C	Hepatomegaly, Bone-marrow foam cells, Aggressive behavior, Splenomegaly, Abnormal lung morphology...	ORPHA:646
Fanconi Anemia	Abnormality of chromosome stability, Weight loss, Abnormality of the liver, Hypogonadism, Umbilic...	ORPHA:84
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Broad femoral neck, Sternocleidomastoid amyotrophy, Small hand, Short foot, Spina bif...	ORPHA:488434
Exstrophy-Epispadias Complex	Bifid scrotum, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal transposition, Ma...	ORPHA:322
Carney-Stratakis Syndrome	Weight loss, Paraganglioma, Dysphagia	ORPHA:97286
Igg4-Related Dacryoadenitis And Sialadenitis	Enlarged lacrimal glands, Thyroiditis, Weight loss, Enlargement of parotid gland, Nodular goiter,...	ORPHA:79078
Malignant Atrophic Papulosis	Peritonitis, Weight loss	ORPHA:679
Complement Component 5 Deficiency	Recurrent Neisserial infections, Generalized seborrheic dermatitis, Recurrent meningococcal disease	OMIM:609536
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Cachexia, Steatorrhea	ORPHA:3217
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Thyroid hypoplasia, Congenital hypothyroidism	ORPHA:521445
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ...	OMIM:231005
X-Linked Dystonia-Parkinsonism	Impaired oropharyngeal swallow response, Aspiration pneumonia	ORPHA:53351
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Abnormality of the thyroid gland, Skeletal muscle atrophy, Cachexia, Anorexia	ORPHA:1969
Friedreich Ataxia 2	Abnormal EKG, Congestive heart failure, Concentric hypertrophic cardiomyopathy, Diabetic ketoacid...	OMIM:601992
Early-Onset Lafora Body Disease	Lafora bodies	ORPHA:324290
Woodhouse-Sakati Syndrome	Alopecia, Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Hypergonad...	OMIM:241080
Rat-Bite Fever	Abdominal aseptic abscess, Pancreatitis, Tendonitis, Weight loss	ORPHA:31205
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Rickets	OMIM:219900
Myoglobinuria, Recurrent	Ragged-red muscle fibers	OMIM:550500
Trisomy 18	Omphalocele, Camptodactyly of finger, Cachexia, Congenital diaphragmatic hernia, Hernia	ORPHA:3380
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Transient ischemic attac...	OMIM:610655
Legius Syndrome	Paroxysmal atrial tachycardia, Xanthelasma, Acute monocytic leukemia, Pulmonic stenosis	ORPHA:137605
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome	Abnormality of the pulmonary artery	ORPHA:1065
Duodenal Atresia	Annular pancreas, Abnormality of the pulmonary artery	ORPHA:1203
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Multinodular goiter	OMIM:620189
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Neonatal respiratory distress, Apnea, Fetal ascites, Portal hypertension, Cryptorchidism, Asthma,...	OMIM:619503
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Hypoventilation, Apnea, Urinary incontinence, Sinus bradycardia, Hypopnea, Restrictive ventilator...	OMIM:619482
Nijmegen Breakage Syndrome	Skeletal muscle atrophy, Abnormality of chromosome stability, Rhabdomyosarcoma, Cachexia, Attenti...	ORPHA:647
Treacher-Collins Syndrome	Cryptorchidism, Abnormality of the adrenal glands, Hypoplasia of the thymus, Failure to thrive, T...	ORPHA:861
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Cerebral arteriovenous malformation	OMIM:175050
Fryns-Smeets-Thiry Syndrome	Cachexia	ORPHA:2058
Linear Skin Defects With Multiple Congenital Anomalies 1	Histiocytoid cardiomyopathy, Arrhythmia, Junctional ectopic tachycardia	OMIM:309801
Holoprosencephaly-Postaxial Polydactyly Syndrome	Cryptorchidism, Abnormality of the hypothalamus-pituitary axis, Thyroid hypoplasia, Adrenal hypop...	ORPHA:2166
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Telangiectasia of the oral mucosa, Telangiectasia of the skin, Cardiomegaly, Lip telangiectasia, ...	ORPHA:79280
Norrie Disease	Diabetes mellitus, Cachexia, Self-injurious behavior, Attention deficit hyperactivity disorder, D...	ORPHA:649
Familial Mediterranean Fever	Orchitis, Amyloidosis, Renal amyloidosis	OMIM:249100
Epilepsy, Progressive Myoclonic, 10	Lafora bodies	OMIM:616640
Tubulointerstitial Nephritis And Uveitis Syndrome	Elevated circulating C-reactive protein concentration, Anorexia, Elevated circulating creatinine ...	ORPHA:91500
Knobloch Syndrome 2	Recurrent respiratory infections, Abnormal pulmonary interstitial morphology	OMIM:618458
Granulomatosis With Polyangiitis	Weight loss	OMIM:608710
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Abnormal p...	OMIM:614748
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Thyroid hypoplasia, Adrenal hypoplasia	OMIM:308050
Myoclonic Epilepsy Of Lafora	Lafora bodies	OMIM:254780
Juvenile Polyposis Of Infancy	Cachexia, Hypoalbuminemia, Subcutaneous lipoma	ORPHA:79076
Pyomyositis	Myositis, Weight loss	ORPHA:764
Lafora Disease	Brain atrophy, Lafora bodies	ORPHA:501
Seckel Syndrome	Abnormal dental enamel morphology, Cachexia	ORPHA:808
Malt Lymphoma	Abnormality of the thyroid gland, Weight loss	ORPHA:52417
Pallister-Hall Syndrome	Thyroid hypoplasia, Adrenal hypoplasia, Large for gestational age, Precocious puberty, Cryptorchi...	ORPHA:672
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Cachexia	ORPHA:220295
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Elevated circulating C-reactive protein concentration, Weight loss	OMIM:301074
Stickler Syndrome	Skeletal muscle atrophy, Abnormal dental enamel morphology, Cachexia, Macroglossia, Slender build	ORPHA:828

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 Cav1

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 Cav1.

No publications found that use IMPC mice or data for Cav1.

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MGI Allele	Allele Type	Produced
Cav1^em2(IMPC)Ics	Deletion	Mice
Cav1^{tm1a(KOMP)Mbp}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Cav1^{tm1e(KOMP)Mbp}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Cav1 MGI:102709

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Human diseases caused by Cav1 mutations

Histopathology

IMPC related publications

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