| Platelet Aggregation, Spontaneous |
|
Spontaneous platelet aggregation, Abnormal platelet function |
OMIM:173400 |
| Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
| Testicular Microlithiasis |
|
Testicular microlithiasis |
OMIM:610441 |
| Testicular Torsion |
|
Testicular torsion, Torsion of appendix of testis |
OMIM:187400 |
| Atherosclerosis Susceptibility |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:108725 |
| Platelet Responsiveness To Adrenaline, Depressed |
|
Impaired epinephrine-induced platelet aggregation |
OMIM:173580 |
| Athrombia, Essential |
|
Prolonged bleeding time, Impaired platelet adhesion, Impaired platelet aggregation |
OMIM:209050 |
| Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL choles... |
OMIM:620058 |
| Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Macrothrombocytopenia, Impaired platelet aggregation |
OMIM:613112 |
| Thrombocytopenia 7 |
|
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... |
OMIM:619130 |
| Partial Chromosome Y Deletion |
|
Abnormal spermatogenesis, Decreased testicular size, Oligospermia, Male infertility, Cryptorchidi... |
ORPHA:1646 |
| Fish-Eye Disease |
|
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypertriglyceri... |
OMIM:136120 |
| Platelet-Activating Factor Acetylhydrolase Deficiency |
|
Increased level of platelet-activating factor |
OMIM:614278 |
| Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Interstitial cardiac fibrosis, Restrictive cardiomyopathy, Ventricular arrhyth... |
OMIM:613424 |
| Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
| Spermatogenic Failure 77 |
|
Azoospermia, Oligospermia, Male infertility, Abnormal circulating testosterone concentration, Abn... |
OMIM:620103 |
| Hypobetalipoproteinemia, Familial, 2 |
|
Decreased LDL cholesterol concentration, Hypotriglyceridemia |
OMIM:605019 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:144300 |
| Thrombocythemia 1 |
|
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Thromb... |
OMIM:187950 |
| Spermatogenic Failure 25 |
|
Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Male infert... |
OMIM:617960 |
| Spermatogenic Failure 30 |
|
Spermatogenesis maturation arrest, Azoospermia, Cryptozoospermia, Male infertility, Cryptorchidism |
OMIM:618110 |
| Glanzmann Thrombasthenia 2 |
|
Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet aggregation, Impaired epi... |
OMIM:619267 |
| Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
| Spermatogenic Failure 63 |
|
Decreased testicular size, Oligospermia, Male infertility, Reduced progressive sperm motility |
OMIM:619689 |
| Platelet Signal Processing Defect |
|
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet a... |
OMIM:173590 |
| Spermatogenic Failure 2 |
|
Azoospermia, Non-obstructive azoospermia, Oligospermia, Male infertility, Abnormal circulating te... |
OMIM:108420 |
| Cardiomyopathy, Familial Hypertrophic, 16 |
|
Sudden cardiac death, Reduced left ventricular ejection fraction, Syncope, Left ventricular hyper... |
OMIM:613838 |
| Cardiomyopathy, Familial Restrictive, 1 |
|
Sudden cardiac death, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left atrial enlar... |
OMIM:115210 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... |
OMIM:619271 |
| Glycogen Storage Disease Vi |
|
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:232700 |
| Spermatogenic Failure 65 |
|
Absent sperm flagella, Abnormal sperm mid-piece morphology, Short sperm flagella, Reduced sperm m... |
OMIM:619712 |
| Spermatogenic Failure 15 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Abnormal circul... |
OMIM:616950 |
| Cardiomyopathy, Familial Hypertrophic, 8 |
|
Sudden cardiac death, Restrictive cardiomyopathy, Exertional dyspnea, Reduced left ventricular ej... |
OMIM:608751 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Abnormal spermatogenesis, Testicular microlithiasis, Decreased circulating dihydrotestosterone co... |
OMIM:228300 |
| Glycogen Storage Disease 0, Muscle |
|
Left atrial enlargement, Left ventricular hypertrophy, Decreased muscle glycogen content, Cardiom... |
OMIM:611556 |
| Cardiomyopathy, Familial Hypertrophic, 25 |
|
Wolff-Parkinson-White syndrome, Left ventricular hypertrophy, Hypertrophic cardiomyopathy |
OMIM:607487 |
| Spermatogenic Failure 54 |
|
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospermia, Cryptozoospermia,... |
OMIM:619379 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Sudden cardiac death, Ventricular arrhythmia, Left ventricular hypertrophy, Congestive heart fail... |
OMIM:601493 |
| Spermatogenic Failure 56 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:619515 |
| Spermatogenic Failure 51 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... |
OMIM:619177 |
| Spermatogenic Failure, X-Linked, 3 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:301059 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia |
ORPHA:366 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Abnormal sperm mid-piece morphology, Androgen insufficiency, Reduced sperm motility, Oligospermia... |
ORPHA:529970 |
| Bronchopulmonary Dysplasia |
|
Tracheobronchomalacia, Hyperoxemia, Abnormal respiratory system physiology, Respiratory distress,... |
ORPHA:70589 |
| Cardiomyopathy, Dilated, 1U |
|
Severely reduced left ventricular ejection fraction, Syncope, Left ventricular hypertrophy, Conge... |
OMIM:613694 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Myofiber disarray, Supraventricular tachycardia, Cardiac arrest, Left ventricular hypertrophy, Di... |
OMIM:612158 |
| Cardiomyopathy, Familial Hypertrophic, 15 |
|
Pulmonary arterial hypertension, Myofiber disarray, Apical hypertrophic cardiomyopathy, Left vent... |
OMIM:613255 |
| Spermatogenic Failure 40 |
|
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Coiled sperm flagell... |
OMIM:618664 |
| Spermatogenic Failure 76 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:620084 |
| Spermatogenic Failure 39 |
|
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospe... |
OMIM:618643 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hyperlipidemia, Hypercholesterolem... |
ORPHA:79506 |
| Bleeding Disorder, Platelet-Type, 22 |
|
Impaired platelet aggregation |
OMIM:618462 |
| Spermatogenic Failure 58 |
|
Short sperm flagella, Oligospermia, Irregularly shaped sperm tail, Male infertility, Reduced prog... |
OMIM:619585 |
| Cardiomyopathy, Familial Hypertrophic, 20 |
|
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Atrial fibrillation, Reduced left vent... |
OMIM:613876 |
| Cardiomyopathy, Dilated, 1Kk |
|
Left ventricular hypertrophy, Dilated cardiomyopathy, Congestive heart failure, Increased left ve... |
OMIM:615248 |
| Cardiomyopathy, Dilated, 1Gg |
|
Reduced left ventricular ejection fraction, Cardiogenic shock, Congestive heart failure, Respirat... |
OMIM:613642 |
| Familial Dilated Cardiomyopathy |
|
Elevated pulmonary artery pressure, Abnormal circulating creatine kinase concentration, Reduced l... |
ORPHA:217607 |
| Pulmonary Hypertension, Primary, 5 |
|
Pulmonary arterial hypertension, Exertional dyspnea, Syncope, Angina pectoris, Right ventricular ... |
OMIM:265400 |
| Spermatogenic Failure 47 |
|
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm |
OMIM:619102 |
| Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
| Morbid Obesity And Spermatogenic Failure |
|
Type II diabetes mellitus, Infertility, Azoospermia, Oligospermia, Increased LDL cholesterol conc... |
OMIM:615703 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hypertriglyceridemia |
OMIM:619175 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Thrombocytopenia, Abnormal platelet function |
ORPHA:231393 |
| Leydig Cell Hypoplasia |
|
Ambiguous genitalia, Breast aplasia, Increased circulating gonadotropin level, Primary amenorrhea... |
ORPHA:755 |
| Isochromosomy Yp |
|
Primary gonadal insufficiency, Ambiguous genitalia, Decreased testicular size, Azoospermia, Male ... |
ORPHA:98797 |
| Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Oligospermia, Male infertility, Azoospermia |
OMIM:619108 |
| Cardiomyopathy, Familial Hypertrophic, 21 |
|
Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hypertrophic cardiomyopat... |
OMIM:614676 |
| Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
| Spermatogenic Failure 1 |
|
Oligospermia, Cryptozoospermia, Male infertility |
OMIM:258150 |
| Atrial Fibrillation, Familial, 6 |
|
Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Elevated left ventricul... |
OMIM:612201 |
| Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:614822 |
| Spermatogenic Failure 11 |
|
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:615081 |
| Spermatogenic Failure 41 |
|
Tapered sperm head, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm |
OMIM:618670 |
| Left Ventricular Noncompaction 1 |
|
Sudden cardiac death, Ventricular septal defect, Ventricular arrhythmia, Left ventricular hypertr... |
OMIM:604169 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Supraventricular tachycardia, Systolic anterior motion of the mitral valve,... |
OMIM:608758 |
| Cardiomyopathy, Familial Hypertrophic, 17 |
|
Left ventricular hypertrophy, Angina pectoris, Myocardial fibrosis, Hypertrophic cardiomyopathy, ... |
OMIM:613873 |
| Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Female hypogonadism, Primary amenorrhea, Gonadotropin deficiency, Decreased serum estradiol, Decr... |
ORPHA:52901 |
| Loeffler Endocarditis |
|
Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Myocardial fibrosis, Pericard... |
ORPHA:75566 |
| Spermatogenic Failure 32 |
|
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia |
OMIM:618115 |
| Spermatogenic Failure 71 |
|
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia |
OMIM:619831 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Endocardial fibroelastosis, Impaired myocardial contractility, Left ventricular diastolic dysfunc... |
OMIM:618052 |
| Papular Xanthoma |
|
Hyperlipidemia |
ORPHA:158008 |
| Cardiomyopathy, Familial Hypertrophic, 18 |
|
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Atrial fibrillation, Paroxysmal atrial... |
OMIM:613874 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Centrally nucleated ... |
ORPHA:86812 |
| Von Willebrand Disease |
|
Abnormality of thrombocytes, Abnormal platelet function |
ORPHA:903 |
| Pseudo-Von Willebrand Disease |
|
Prolonged bleeding time, Intermittent thrombocytopenia |
OMIM:177820 |
| Hyperlipoproteinemia, Type Iv |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:144600 |
| Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
| Spermatogenic Failure 7 |
|
Oligospermia, Male infertility, Reduced sperm motility, Immotile sperm |
OMIM:612997 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Flexion contracture, Musc... |
OMIM:253700 |
| His Bundle Tachycardia |
|
Neoplasm of the heart, Cardiomyopathy, Junctional ectopic tachycardia, Arrhythmia |
ORPHA:3283 |
| Glanzmann Thrombasthenia 1 |
|
Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet aggregation, Impaired epi... |
OMIM:273800 |
| Chylomicron Retention Disease |
|
Decreased LDL cholesterol concentration, Steatorrhea, Hypotriglyceridemia, Hypocholesterolemia, H... |
OMIM:246700 |
| Isochromosomy Yq |
|
Primary gonadal insufficiency, Gonadal tissue inappropriate for external genitalia or chromosomal... |
ORPHA:98798 |
| Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Absent muscle dystrophin expression, Calf muscle hypertrophy, Elbow flexion contracture, Left ven... |
ORPHA:206546 |
| Cardiomyopathy, Familial Hypertrophic, 14 |
|
Left ventricular outflow tract obstruction, Right bundle branch block, Severely reduced left vent... |
OMIM:613251 |
| Cardiomyopathy, Dilated, 1V |
|
Reduced left ventricular ejection fraction, Syncope, Left ventricular hypertrophy, Congestive hea... |
OMIM:613697 |
| Spermatogenic Failure 70 |
|
Oligospermia, Reduced sperm motility, Azoospermia, Male infertility |
OMIM:619828 |
| Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Non-obstructive a... |
OMIM:619528 |
| Spermatogenic Failure 14 |
|
Azoospermia, Late spermatogenesis maturation arrest, Abnormal prolactin level, Male infertility, ... |
OMIM:615842 |
| Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size |
OMIM:619145 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 9 |
|
Hypertrophic cardiomyopathy, Cardiomyocyte mitochondrial proliferation |
OMIM:616500 |
| Spermatogenic Failure 28 |
|
Decreased testicular size, Decreased serum testosterone concentration, Male infertility, Elevated... |
OMIM:618086 |
| Spermatogenic Failure 8 |
|
Oligospermia, Cryptozoospermia, Azoospermia |
OMIM:613957 |
| Spermatogenic Failure 22 |
|
Cryptozoospermia, Male infertility, Non-obstructive azoospermia |
OMIM:617706 |
| Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Abnormal circulating lipid concentration, Nephrotic syndrome, Hematuria, Membranoproliferative gl... |
OMIM:608709 |
| Spermatogenic Failure 64 |
|
Reduced progressive sperm motility, Oligospermia, Male infertility, Abnormal sperm head morphology |
OMIM:619696 |
| Cardiomyopathy, Familial Hypertrophic, 3 |
|
Sudden cardiac death, Hypertrophic cardiomyopathy |
OMIM:115196 |
| Von Willebrand Disease, X-Linked Form |
|
Prolonged bleeding time |
OMIM:314560 |
| Cardiomyopathy, Familial Hypertrophic, 11 |
|
Right bundle branch block, Cardiac arrest, Syncope, Left ventricular hypertrophy, Angina pectoris... |
OMIM:612098 |
| Cardiomyopathy, Dilated, 1D |
|
Sudden cardiac death, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, C... |
OMIM:601494 |
| Fixed Subaortic Stenosis |
|
Atrioventricular canal defect, Systolic heart murmur, Left ventricular outflow tract obstruction,... |
ORPHA:3092 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Elevated circulating alanine aminotransferase concentration, Hyperalanin... |
OMIM:619048 |
| Bleeding Disorder, Platelet-Type, 18 |
|
Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced ... |
OMIM:615888 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, Dyspnea,... |
OMIM:610476 |
| Myopathy, Myofibrillar, 3 |
|
Achilles tendon contracture, Elevated circulating creatine kinase concentration, Muscle fiber cyt... |
OMIM:609200 |
| Complete Atrioventricular Septal Defect |
|
Systolic heart murmur, Crackles, Displacement of the papillary muscles, Hepatomegaly, Abnormal P ... |
ORPHA:1329 |
| Lipase Deficiency, Combined |
|
Hypertriglyceridemia |
OMIM:246650 |
| Peripartum Cardiomyopathy |
|
Sinus tachycardia, Cardiogenic shock, Crackles, Palpitations, Exertional dyspnea, Asthma, Elevate... |
ORPHA:563 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation |
OMIM:124900 |
| 46,Xy Sex Reversal 11 |
|
Primary amenorrhea, Urogenital sinus anomaly, Abnormal internal genitalia, Aplasia of the uterus,... |
OMIM:273250 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Anemia, Hypersplenism, Hepatomegaly, Hypocholesterolemia, Thrombocytopenia, Splenomegaly |
OMIM:610539 |
| Hyperlipidemia, Familial Combined, 3 |
|
Hypercholesterolemia, Increased VLDL cholesterol concentration, Elevated circulating apolipoprote... |
OMIM:144250 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Severely reduced left ventricular ejection fraction, Wolff-Parkinson-White syndrome, Left ventric... |
ORPHA:444013 |
| Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Abnormal spermatogenesis, Obstructive azoospermia, Decreased testicular size, Azoospermia, Increa... |
ORPHA:399805 |
| Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased s... |
OMIM:616030 |
| Left Ventricular Noncompaction 2 |
|
Left ventricular noncompaction cardiomyopathy |
OMIM:609470 |
| Cardiomyopathy, Familial Hypertrophic, 9 |
|
Hypertrophic cardiomyopathy |
OMIM:613765 |
| Congenital Gerbode Defect |
|
Pulmonary arterial hypertension, Systolic heart murmur, Bacterial endocarditis, Ventricular septa... |
ORPHA:99095 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Anemia, Abnormal pulmonary interstitial morphology, Abnormal natural killer cell physiology, Decr... |
OMIM:613101 |
| Pulmonary Hypertension, Primary, 1 |
|
Pulmonary arterial hypertension, Telangiectasia, Hypertension, Increased pulmonary vascular resis... |
OMIM:178600 |
| Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration |
ORPHA:140905 |
| D-2-Hydroxyglutaric Aciduria 2 |
|
D-2-hydroxyglutaric acidemia, Cardiomyopathy |
OMIM:613657 |
| Attrv122I Amyloidosis |
|
Restrictive cardiomyopathy, Cardiomegaly, Reduced left ventricular ejection fraction, Abnormal EK... |
ORPHA:85451 |
| Bleeding Disorder, Platelet-Type, 11 |
|
Prolonged bleeding time, Impaired ristocetin-induced platelet aggregation, Abnormal platelet coun... |
OMIM:614201 |
| Cardiomyopathy, Dilated, 1I |
|
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Congestive heart failure, Ele... |
OMIM:604765 |
| Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Achilles tendon contract... |
ORPHA:353 |
| Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased s... |
OMIM:614897 |
| Familial Male-Limited Precocious Puberty |
|
Macroorchidism, Precocious puberty, Long penis, Oligospermia, Male infertility |
ORPHA:3000 |
| Familial Hyperaldosteronism Type Ii |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, Hypertension, Abnormal circul... |
ORPHA:404 |
| Myopathy, Distal, 4 |
|
Thenar muscle weakness, Distal lower limb amyotrophy, Abnormality of the calf musculature, Mildly... |
OMIM:614065 |
| Obesity Due To Congenital Leptin Deficiency |
|
Primary amenorrhea, Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex charact... |
ORPHA:66628 |
| Familial Hyperaldosteronism Type I |
|
Hypokalemia, Hypertension, Abnormal circulating renin, Adrenal hyperplasia, Secretory adrenocorti... |
ORPHA:403 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Primary amenorrhea, Decreased serum estradiol, Decreased testicular size, Decreased circulating g... |
OMIM:614841 |
| Distal Myopathy With Posterior Leg And Anterior Hand Involvement |
|
Finger flexor weakness, Weakness of facial musculature, Intrinsic hand muscle atrophy, Foot dorsi... |
ORPHA:63273 |
| Classic Multiminicore Myopathy |
|
Multiple joint contractures, Nocturnal hypoventilation, Muscle fiber atrophy, Generalized amyotro... |
ORPHA:324604 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia |
OMIM:610947 |
| Congenital Fibrinogen Deficiency |
|
Hemorrhagic ovarian cyst, Subcutaneous hemorrhage, Decreased testicular size, Abnormal umbilical ... |
ORPHA:335 |
| Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Hyperalaninemia, Heart murmur, Achilles tendon contracture, Left ventricular hypertrophy, EMG: my... |
OMIM:615418 |
| Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Pulmonary hemorrhage, Arthritis, Restrictive ventilatory defect, Crescentic glomerulonephritis, E... |
OMIM:616414 |
| Idiopathic Pulmonary Arterial Hypertension |
|
Pulmonary arterial hypertension, Elevated pulmonary artery pressure, Heart murmur, Syncope, Conge... |
ORPHA:275766 |
| Spermatogenic Failure 38 |
|
Absent sperm flagella, Tapered sperm head, Abnormal axonemal organization of respiratory motile c... |
OMIM:618433 |
| Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Anemia, Abnormal pulmonary interstitial morphology, Recurrent respiratory... |
OMIM:607616 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Primary amenorrhea, Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex charact... |
ORPHA:179494 |
| Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Decreased serum estradiol, Hypothalamic gonadotropin-releasing hormone deficiency, Decreased seru... |
OMIM:618841 |
| Combined Oxidative Phosphorylation Deficiency 30 |
|
Hyperalaninemia, Left ventricular hypertrophy, Respiratory distress |
OMIM:616974 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Left ventricular outflow tract obstruction, Biventricular hypertrophy, Hepatomegaly, Ventricular ... |
ORPHA:860 |
| Distal Myopathy, Welander Type |
|
Weakness of long finger extensor muscles, EMG: myopathic abnormalities, Distal upper limb amyotro... |
ORPHA:603 |
| Left Ventricular Noncompaction 10 |
|
Pulmonary arterial hypertension, Syncope, Congestive heart failure, Dilated cardiomyopathy, Incre... |
OMIM:615396 |
| Cardiomyopathy, Dilated, 1L |
|
Sudden cardiac death, Reduced left ventricular ejection fraction, Congestive heart failure, Incre... |
OMIM:606685 |
| Idiopathic Non-Lupus Full-House Nephropathy |
|
Nephrotic syndrome, Acute kidney injury, Skin rash, Arthritis, Synovitis, Hypertension, Serositis... |
ORPHA:567544 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Ambiguous genitalia,... |
ORPHA:90791 |
| Frasier Syndrome |
|
Nephroblastoma, Glomerulopathy, Gonadoblastoma, Renal insufficiency, Decreased serum estradiol, S... |
ORPHA:347 |
| Familial Hyperaldosteronism Type Iii |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, Left ventricular hypertrophy,... |
ORPHA:251274 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... |
OMIM:602087 |
| Platelet Disorder, Undefined |
|
Prolonged bleeding time, Thrombocytopenia, Impaired platelet aggregation |
OMIM:173420 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... |
ORPHA:90793 |
| Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Respiratory insufficiency, Supraventricular tachycardia, Fatty replacement of skeletal muscle, El... |
OMIM:255100 |
| Gne Myopathy |
|
Tibialis muscle weakness, Increased variability in muscle fiber diameter, Weakness of long finger... |
ORPHA:602 |
| Myofibrillar Myopathy 10 |
|
Knee flexion contracture, Increased QRS voltage, Elbow flexion contracture, Left ventricular hype... |
OMIM:619040 |
| Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Hypocholesterolemia, Decreased LDL cholesterol concentration, Decreased HDL cholesterol concentra... |
OMIM:616834 |
| Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Pulmonary arterial hypertension, Interstitial pneumonitis, Spontaneous neonatal pneumothorax, Neo... |
ORPHA:217563 |
| Ataxia, Deafness, And Cardiomyopathy |
|
Cardiomyopathy |
OMIM:208750 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Primary amenorrhea, Gonadoblastoma, Abnormality of female external genitalia, Decreased serum est... |
ORPHA:168563 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Impaired platelet aggregation, Thrombocytopenia, Giant platelets, Platelet anisocytosis, Macrothr... |
OMIM:187800 |
| Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia |
OMIM:618010 |
| 46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... |
ORPHA:168558 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... |
ORPHA:289548 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Flexion contracture, Renal dysplasia, Left ventricular hypertrophy, Hypertension, Respiratory dis... |
OMIM:616733 |
| X-Linked Intellectual Disability, Van Esch Type |
|
Absence of secondary sex characteristics, Decreased testicular size, Type II diabetes mellitus, M... |
ORPHA:163976 |
| Glanzmann Thrombasthenia |
|
Impaired collagen-related peptide-induced platelet aggregation, Impaired arachidonic acid-induced... |
ORPHA:849 |
| Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopathy, Myopathy, Autoph... |
OMIM:609500 |
| Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
OMIM:616516 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Left ventricular hypertrophy, Elevated circulating creatine kinase concentration, Myopathy, Hepat... |
OMIM:617713 |
| Adrenal Hypoplasia, Congenital |
|
Precocious puberty, Decreased circulating aldosterone level, Hyponatremia, Adrenal insufficiency,... |
OMIM:300200 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Hyperinsulinemia, Hepatic fibrosis, Insulin-resistant diabetes mellitus at puberty, Abnormal circ... |
ORPHA:280356 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Pulmonary embolism, Abnormal circulating lipid concentration, Hypertriglyceridemia, Abnormal urin... |
ORPHA:567548 |
| Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Sudden cardiac death, Limb-girdle muscle weakness, Elbow flexion contracture, Elevated circulatin... |
OMIM:181350 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Type 1 fibers relatively smaller than type 2 fibers, Dilated cardiomyopathy, Respiratory distress... |
OMIM:300580 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hypertrophic cardiomyopathy, Hepatomegaly |
ORPHA:79281 |
| Atrial Fibrillation, Familial, 10 |
|
Permanent atrial fibrillation, Tricuspid regurgitation, Right ventricular dilatation, Left ventri... |
OMIM:614022 |
| Bardet-Biedl Syndrome 16 |
|
Hypogonadism, Renal dysplasia, Stage 5 chronic kidney disease, Short stature, External genital hy... |
OMIM:615993 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... |
OMIM:602086 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:245900 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia |
OMIM:608898 |
| Aapoaiv Amyloidosis |
|
Left ventricular outflow tract obstruction, Supravalvular aortic stenosis, Hypertrophic cardiomyo... |
ORPHA:439232 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Decreased LDL cholesterol concentration, Steatorrhea, Decreased HDL cholesterol concentration, Hy... |
OMIM:615558 |
| Hyperaldosteronism, Familial, Type I |
|
Hyperaldosteronism, Adrenogenital syndrome, Decreased circulating renin level, Hypertension, Adre... |
OMIM:103900 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Renal tubular atrophy, Aminoaciduria, Patent foramen ovale, Intrahepatic biliary atresia, Renal t... |
OMIM:208085 |
| Nephrotic Syndrome, Type 14 |
|
Hypothyroidism, Hypertriglyceridemia, Hypogonadism, Nephrotic syndrome, Stage 5 chronic kidney di... |
OMIM:617575 |
| Nephrotic Syndrome, Type 11 |
|
Renal tubular atrophy, IgA deposition in the glomerulus, Ventricular septal defect, Nephrotic syn... |
OMIM:616730 |
| Glycogen Storage Disease Due To Lamp-2 Deficiency |
|
Cardiorespiratory arrest, Hypertrophic cardiomyopathy, Dilated cardiomyopathy |
ORPHA:34587 |
| C3 Glomerulopathy 3 |
|
Mesangial matrix expansion, Stage 5 chronic kidney disease, Thickening of glomerular capillary wa... |
OMIM:614809 |
| Cirrhotic Cardiomyopathy |
|
Left ventricular diastolic dysfunction, Ventricular arrhythmia, Hepatomegaly, Abnormal circulatin... |
ORPHA:57777 |
| Cardiomyopathy, Dilated, 1Bb |
|
Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventr... |
OMIM:612877 |
| Partial Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, Male sexual dysfunction, Blind vagina, Primary amenorrhea, Increased circula... |
ORPHA:90797 |
| Aicardi-Goutieres Syndrome 9 |
|
Hypothyroidism, Pericardial effusion, Elevated hepatic transaminase, Hepatosplenomegaly, Pericard... |
OMIM:619487 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Hepatic failure, Anemia, Decreased level of coenzyme Q10 in skeletal muscle, Nephrotic syndrome, ... |
OMIM:607426 |
| Focal Segmental Glomerulosclerosis 1 |
|
Anemia, Stage 5 chronic kidney disease, Hypertension, Hyperlipidemia, Proteinuria, Focal segmenta... |
OMIM:603278 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Respiratory insufficiency, Flexion contracture, Muscular dystrophy, Congenital muscular dystrophy... |
OMIM:613156 |
| Cardiomyopathy, Dilated, 1M |
|
Impaired myocardial contractility, Reduced left ventricular ejection fraction, Congestive heart f... |
OMIM:607482 |
| Distal Nebulin Myopathy |
|
Weakness of long finger extensor muscles, Fatty replacement of skeletal muscle, Exertional dyspne... |
ORPHA:399103 |
| Congenital Aortic Valve Stenosis |
|
Sudden cardiac death, Abnormal T-wave, Aortic valve atresia, Increased QRS voltage, Endocarditis,... |
ORPHA:3093 |
| Congenital Tricuspid Valve Dysplasia |
|
Patent foramen ovale, Systolic heart murmur, Cardiomegaly, Tricuspid regurgitation, Pericardial e... |
ORPHA:555874 |
| Glycogen Storage Disease Ixa1 |
|
Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
| Usher Syndrome, Type 1M |
|
Left ventricular hypertrophy |
OMIM:618632 |
| Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Globozoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular s... |
ORPHA:399808 |
| Primary Pigmented Nodular Adrenocortical Disease |
|
Irregular menstruation, Increased circulating cortisol level, Type II diabetes mellitus, Decrease... |
ORPHA:189439 |
| Spermatogenic Failure 12 |
|
Abnormal male germ cell morphology, Infertility, Azoospermia |
OMIM:615413 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Aminoaciduria, Renal tubular acidosis, Ventricular septal defect, Glycosuria, Jaundice, Elevated ... |
OMIM:613404 |
| Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Increased circulating cortisol level, Hypertension, Adrenal hyperplasia, Primary hypercortisolism... |
OMIM:615830 |
| Cardiomyopathy, Dilated, 2A |
|
Myofiber disarray, Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular e... |
OMIM:611880 |
| Neutral Lipid Storage Disease With Myopathy |
|
Short stature, Elevated hepatic transaminase, Elevated circulating creatine kinase concentration,... |
OMIM:610717 |
| Spermatogenic Failure 62 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
| Spermatogenic Failure 61 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
| Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hypertriglyceridemia |
ORPHA:436182 |
| Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Respiratory insufficiency, Increased variability in muscle fiber diameter, Centrally nucleated sk... |
OMIM:612999 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Recurrent sinusitis, Generalized lymphadenopathy, Hepatosplenomegaly, Hepatomegaly, Splenomegaly,... |
OMIM:615559 |
| Spermatogenic Failure 59 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619645 |
| Spermatogenic Failure 60 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619646 |
| Spermatogenic Failure 74 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619937 |
| Spermatogenic Failure 73 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619878 |
| Autoinflammatory-Pancytopenia Syndrome |
|
Hepatic fibrosis, Chronic diarrhea, Chilblains, Type I diabetes mellitus, Membranoproliferative g... |
OMIM:619858 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACT... |
OMIM:219080 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Pulmonary arterial hypertension, Hyperaldosteronism, Hypokalemia, Intracranial hemorrhage, Adrena... |
ORPHA:369929 |
| Hemochromatosis, Type 2A |
|
Increased serum iron, Infertility, Azoospermia, Dilated cardiomyopathy, Congestive heart failure,... |
OMIM:602390 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Flexion contracture,... |
OMIM:608099 |
| Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Apnea, Hypertrophic cardiomyopathy |
OMIM:618235 |
| Coenzyme Q10 Deficiency, Primary, 5 |
|
Respiratory insufficiency, Hyperalaninemia, Decreased level of coenzyme Q10 in skeletal muscle, L... |
OMIM:614654 |
| Immunodeficiency 91 And Hyperinflammation |
|
Hemolytic-uremic syndrome, Pulmonary hemorrhage, Intermittent diarrhea, Nephrotic syndrome, Neutr... |
OMIM:619644 |
| Galloway-Mowat Syndrome 7 |
|
Renal tubular atrophy, IgA deposition in the glomerulus, Ventricular septal defect, Short stature... |
OMIM:618348 |
| Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter, Increased circulating creatine kinase MB isoform,... |
OMIM:302045 |
| Nephrotic Syndrome, Type 23 |
|
Podocyte foot process effacement, Minimal change glomerulonephritis, Proteinuria, Mesangial hyper... |
OMIM:619201 |
| Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
| Muscular Dystrophy, Becker Type |
|
Abnormal EKG, Muscular dystrophy, Elevated circulating creatine kinase concentration, Calf muscle... |
OMIM:300376 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Sudden cardiac death, Ventricular arrhythmia, Right ventricular cardiomyopathy |
OMIM:107970 |
| Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
| Pituicytoma |
|
Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t... |
ORPHA:251623 |
| Complete Androgen Insensitivity Syndrome |
|
Increased serum estradiol, Primary amenorrhea, Increased serum testosterone level, Bilateral cryp... |
ORPHA:99429 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory insufficiency, Left ventricular outflow tract obstruction, Heart murmur, Left ventric... |
ORPHA:308552 |
| Sick Sinus Syndrome 2 |
|
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Mitral valve prolapse, Syncope, Left ve... |
OMIM:163800 |
| Nephrotic Syndrome, Type 1 |
|
Renal tubular atrophy, Hypothyroidism, Gastroesophageal reflux, Congenital nephrotic syndrome, Gl... |
OMIM:256300 |
| Bdv Syndrome |
|
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hyperin... |
OMIM:619326 |
| Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Irregular menstruation, Hyperaldosteronism, Increased circulating cortisol level, Macronodular ad... |
ORPHA:189427 |
| Immunodeficiency, Common Variable, 6 |
|
Nephrotic range proteinuria, Stage 5 chronic kidney disease, Enlarged kidney, Purpura, Mesangial ... |
OMIM:613496 |
| Hypertriglyceridemia, Transient Infantile |
|
Hypertriglyceridemia |
OMIM:614480 |
| X-Linked Intellectual Disability, Cilliers Type |
|
Absence of secondary sex characteristics, Decreased testicular size, Male hypogonadism, Increased... |
ORPHA:163971 |
| Atrial Septal Defect, Ostium Primum Type |
|
Systolic heart murmur, Airway obstruction, Palpitations, Abnormal P wave, Tricuspid regurgitation... |
ORPHA:99106 |
| Ring Chromosome Y Syndrome |
|
Urogenital sinus anomaly, Ambiguous genitalia, Abnormal spermatogenesis, Gonadoblastoma, Ambiguou... |
ORPHA:261529 |
| Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Limb-girdle muscle weakness, Diarrhea, Hepatocellular carcinoma, Elevated hepatic transaminase, E... |
ORPHA:370 |
| Apolipoprotein C-Ii Deficiency |
|
Hypercholesterolemia, Increased circulating chylomicron concentration, Hypertriglyceridemia, Decr... |
OMIM:207750 |
| Spastic Paraplegia-Precocious Puberty Syndrome |
|
Precocious puberty in males, Hyperplasia of the Leydig cells |
ORPHA:2826 |
| Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Hypogonadism, Decreased testicular size, Decreased serum testosterone concentration, Increased ci... |
OMIM:300869 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Decreased plasma carnitine, Ventilator dependence with inability to wean, Respiratory distress, M... |
ORPHA:254864 |
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Left ventricular hypertrophy, Hypertension, Congestive heart fail... |
OMIM:540000 |
| Nephrotic Syndrome, Type 7 |
|
Hemolytic-uremic syndrome, Hemolytic anemia, Nephrotic syndrome, Acute kidney injury, Stage 5 chr... |
OMIM:615008 |
| Polyembryoma |
|
Irregular menstruation, Isosexual precocious puberty, Macroorchidism, Increased serum testosteron... |
ORPHA:180229 |
| Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
| Pituitary Adenoma 1, Multiple Types |
|
Irregular menstruation, Increased circulating prolactin concentration, Pituitary adenoma, Prolact... |
OMIM:102200 |
| Cardiomyopathy, Dilated, 1W |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Reduced left ventricular... |
OMIM:611407 |
| Cardiomyopathy, Dilated, 1Cc |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Reduced left ventricular... |
OMIM:613122 |
| Cardiomyopathy, Familial Hypertrophic, 28 |
|
Sudden cardiac death, Apical hypertrophic cardiomyopathy, Left ventricular outflow tract obstruct... |
OMIM:619402 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Ambiguous genitalia, Premature thelarche, Precocious puberty, Ambiguous genitalia, female, Decrea... |
ORPHA:90795 |
| Cardiac Lipidosis, Familial |
|
Congestive heart failure, Cardiomyopathy |
OMIM:212080 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Respiratory distress, Hepatic steatosis, Increa... |
ORPHA:26792 |
| Bleeding Disorder, Platelet-Type, 13, Susceptibility To |
|
Impaired thromboxane A2 agonist-induced platelet aggregation |
OMIM:614009 |
| Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Respiratory insufficiency, Global systolic dysfunction, Nemaline bodies, Dyspnea, Limb muscle wea... |
OMIM:606842 |
| Hereditary Myopathy With Early Respiratory Failure |
|
Tibialis muscle weakness, Muscle fiber splitting, Increased variability in muscle fiber diameter,... |
ORPHA:178464 |
| Developmental And Epileptic Encephalopathy 109 |
|
Left ventricular hypertrophy, Dyspnea |
OMIM:620145 |
| Spermatogenic Failure, X-Linked, 4 |
|
Azoospermia, Abnormal prolactin level, Male infertility, Elevated circulating luteinizing hormone... |
OMIM:301077 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory insufficiency, Increased variability in muscle fiber diameter, Respiratory distress, ... |
ORPHA:238329 |
| Gonadoblastoma |
|
Ambiguous genitalia, Increased serum testosterone level, Gonadal dysgenesis with female appearanc... |
ORPHA:206484 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACT... |
OMIM:615954 |
| Idiopathic Pulmonary Hemosiderosis |
|
Heart murmur, Diffuse alveolar hemorrhage, Hepatosplenomegaly, Iron deficiency anemia, Glomerulon... |
ORPHA:99931 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Ambiguous genitalia, Precocious puberty, Decreased circulating aldosterone level, Increased circu... |
ORPHA:786 |
| 46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Abnormal circulating corticosterone level, Primary amenorrhea, Hypoplasia of the uterus, Primary ... |
ORPHA:90796 |
| Moyamoya Disease With Early-Onset Achalasia |
|
Thrombocytopenia, Abnormal platelet aggregation |
ORPHA:401945 |
| Autoimmune Polyendocrinopathy Type 1 |
|
Decreased circulating aldosterone level, Increased circulating cortisol level, Adrenal hyperplasi... |
ORPHA:3453 |
| Nephrotic Syndrome, Type 9 |
|
Stage 5 chronic kidney disease, Glomerular sclerosis, Proteinuria, Steroid-resistant nephrotic sy... |
OMIM:615573 |
| Focal Segmental Glomerulosclerosis 2 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Hypertension, Proteinuria, Focal segmental gl... |
OMIM:603965 |
| Cardiomyopathy, Familial Hypertrophic, 7 |
|
Ventricular hypertrophy, Apical hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome, Hype... |
OMIM:613690 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Hypertrophic cardiomyopathy, Low-output congestive heart failure, Respiratory distress, Myopathy |
ORPHA:91130 |
| Tibial Muscular Dystrophy |
|
Increased variability in muscle fiber diameter, Peroneal muscle atrophy, Weakness of long finger ... |
ORPHA:609 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased testicular size, Hypo... |
OMIM:308700 |
| Nephrotic Syndrome, Type 2 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Hyperlipidemia, Proteinuria, Focal segmental ... |
OMIM:600995 |
| Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Increased variability in muscle fiber diameter, Myofiber disarray, Fatty replacement of skeletal ... |
OMIM:301075 |
| Galloway-Mowat Syndrome 6 |
|
Hypothyroidism, Decreased response to growth hormone stimulation test, Short stature, Nephrotic s... |
OMIM:618347 |
| Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Respiratory insufficiency, Limb-girdle muscle weakness, Calf muscle hypertrophy, Sinus tachycardi... |
OMIM:255160 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Distal lower limb amyotrophy, Stage 5 chronic kidney disease, Elevated circulating creatine kinas... |
OMIM:614455 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Increased CD4:CD8 ratio, Nephrotic syndrome, Podocyte foot process effacement, Minimal change glo... |
OMIM:617006 |
| Bacterial Toxic-Shock Syndrome |
|
Hypotension, Septic arthritis, Diarrhea, Fasciitis, Elevated circulating creatine kinase concentr... |
ORPHA:36234 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia |
ORPHA:71529 |
| Cardiomyopathy, Familial Hypertrophic, 13 |
|
Right bundle branch block, Exertional dyspnea, Reduced left ventricular ejection fraction, Concen... |
OMIM:613243 |
| Tangier Disease |
|
Left ventricular hypertrophy, Facial diplegia, Myocardial infarction, Decreased HDL cholesterol c... |
OMIM:205400 |
| Spermatogenic Failure, X-Linked, 2 |
|
Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia |
OMIM:309120 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Knee flexion contracture, Increased variability in muscle fiber diameter, Muscular dystrophy, Wol... |
OMIM:619566 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Macroorchidism, Vomiting, Increased circulating ACTH level, Decreased circulating cortisol level,... |
ORPHA:90790 |
| Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Respiratory insufficiency, Increased variability in muscle fiber diameter, Achilles tendon contra... |
OMIM:300696 |
| Primary Unilateral Adrenal Hyperplasia |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Decreased circulating renin level, Hypokal... |
ORPHA:231580 |
| Nephrotic Syndrome, Type 24 |
|
Renal cortical hyperechogenicity, Podocyte foot process effacement, Focal segmental glomeruloscle... |
OMIM:619263 |
| Combined Oxidative Phosphorylation Deficiency 44 |
|
Hypertrophic cardiomyopathy |
OMIM:618855 |
| Schimke Immuno-Osseous Dysplasia |
|
Nephrotic range proteinuria, Ischemic stroke, Bone marrow hypocellularity, Hyperlipidemia, Thromb... |
ORPHA:1830 |
| Autoinflammation With Infantile Enterocolitis |
|
Anemia, Reduced natural killer cell count, Enterocolitis, Reduced natural killer cell activity, P... |
OMIM:616050 |
| Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Glomerulonephritis, Nephrotic syndrome, Renal insufficiency, Glomerular deposits |
ORPHA:69063 |
| Muscular Hypertonia, Lethal |
|
Pneumonia, Respiratory distress, Umbilical hernia |
OMIM:254120 |
| Antithrombin Iii Deficiency |
|
Pulmonary embolism, Arterial occlusion |
OMIM:613118 |
| Cardiomyopathy, Dilated, 1X |
|
Increased variability in muscle fiber diameter, Reduced left ventricular ejection fraction, Calf ... |
OMIM:611615 |
| Cholesteryl Ester Storage Disease |
|
Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:75234 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Aminoaciduria, Elevated circulating alanine aminotransferase concentration, Hyperalaninemia, Hype... |
OMIM:619386 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Sudden cardiac death, Ventricular hypertrophy, Myofiber disarray, Pericardial effusion, Cardiac a... |
OMIM:115197 |
| Alport Syndrome |
|
Renal tubular atrophy, IgA deposition in the glomerulus, Thickening of glomerular capillary wall,... |
ORPHA:63 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14 |
|
Respiratory insufficiency, Limb-girdle muscle weakness, Muscular dystrophy, Elevated circulating ... |
OMIM:615352 |
| Heparin-Induced Thrombocytopenia |
|
Pulmonary embolism, Cerebral ischemia, Increased serum serotonin, Abnormal onset of bleeding, Aut... |
ORPHA:3325 |
| Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Increased circulating cortisol level, Adrenal hyperplasia |
OMIM:614190 |
| Platelet Glycoprotein Iv Deficiency |
|
Prolonged bleeding time, Thrombocytopenia, Giant platelets |
OMIM:608404 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Dyspnea, Upper airway obstruction, Aspiration pneumonia, Respiratory distress |
ORPHA:141152 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Ambiguous genitalia, Gonadoblastoma, Adrenal insufficiency, Increased circulating gonadotropin le... |
ORPHA:251510 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Muscular dy... |
OMIM:608807 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Nodular regenerative hyperplasia of liver, Telangiectasia, Punctate vasculitis skin lesions, Skin... |
ORPHA:247691 |
| Gaucher Disease Type 2 |
|
Flexion contracture, Cardiac arrest, Respiratory distress, Abnormal pattern of respiration, Cough... |
ORPHA:77260 |
| Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility, Miscarriage |
OMIM:619176 |
| Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Abnormal circulating creatine kinase concentration, Increased variability in muscle fiber diamete... |
ORPHA:399058 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Lymphopenia, Glomerulonephritis, Autoimmune hemolytic anemia, Plasmacytosis, Pneumonia |
OMIM:247800 |
| 49,Xxxyy Syndrome |
|
Primary gonadal insufficiency, Ambiguous genitalia, Abnormality of the testis size, External geni... |
ORPHA:261534 |
| Lysosomal Acid Lipase Deficiency |
|
Diarrhea, Adrenal insufficiency, Hepatosplenomegaly, Hepatic steatosis, Bone-marrow foam cells, H... |
OMIM:278000 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:615863 |
| Myopathy, Myofibrillar, 2 |
|
Muscle fiber splitting, Limb-girdle muscle weakness, Lower limb muscle weakness, Paradoxical resp... |
OMIM:608810 |
| Cystic Echinococcosis |
|
Peritoneal abscess, Abnormality of the pancreas, Abnormality of the testis size, Asthma, Hyperbil... |
ORPHA:400 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hypertriglyceridemia |
OMIM:615924 |
| Fabry Disease |
|
Anemia, Vomiting, Diarrhea, Transient ischemic attack, Left ventricular hypertrophy, Angina pecto... |
OMIM:301500 |
| Congenital Pulmonary Lymphangiectasia |
|
Pulmonary arterial hypertension, Splenomegaly, Chylopericardium, Respiratory distress, Chronic pu... |
ORPHA:2414 |
| Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Rhizomelia, Short stature, Stage 5 chronic kidney disease, Supernumerary nipple, Chronic tubuloin... |
OMIM:614376 |
| Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Hypothyroidism, Short stature, Nephrotic syndrome, Asthma, Hepatosplenomegaly, Eosinophilic liver... |
OMIM:618999 |
| Nephrotic Syndrome, Type 10 |
|
Podocyte foot process effacement, Minimal change glomerulonephritis, Steroid-resistant nephrotic ... |
OMIM:615861 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
|
Limb-girdle muscle weakness, Muscular dystrophy, Dilated cardiomyopathy, Elevated circulating cre... |
OMIM:604286 |
| Focal Segmental Glomerulosclerosis 10 |
|
Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuria, Renal insufficien... |
OMIM:256020 |
| Nephrotic Syndrome, Type 17 |
|
Short stature, Stage 5 chronic kidney disease, Proteinuria, Steroid-resistant nephrotic syndrome,... |
OMIM:618176 |
| Congenital Myopathy 10A, Severe Variant |
|
Respiratory insufficiency, Camptodactyly of finger, Increased variability in muscle fiber diamete... |
OMIM:614399 |
| Distal Myotilinopathy |
|
Multiple joint contractures, Abnormal muscle fiber myotilin, EMG: myopathic abnormalities, Elevat... |
ORPHA:98911 |
| Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction |
OMIM:615092 |
| Autoimmune Hepatitis |
|
Increased total bilirubin, Spider hemangioma, Cirrhosis, Fulminant hepatitis, Arthritis, Thyroidi... |
ORPHA:2137 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Hypoxemia, Respiratory distress, Tachypnea, Crackles, Restrictive ventilatory defect, Cough, Elev... |
ORPHA:264675 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Hypertriglyceridemia, Hyperlipidemia |
OMIM:617885 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Decreased circulating IgG level, Recurrent respiratory infections, Fulminant hepatitis, Reduced n... |
OMIM:308240 |
| Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Pulmonary arterial hypertension, Patent foramen ovale, Ventricular septal defect, Decreased circu... |
OMIM:615474 |
| Focal Segmental Glomerulosclerosis 5 |
|
Stage 5 chronic kidney disease, Hypertension, Proteinuria, Focal segmental glomerulosclerosis, Mi... |
OMIM:613237 |
| Spermatogenic Failure 29 |
|
Male infertility, Immotile sperm, Non-obstructive azoospermia |
OMIM:618091 |
| Cardiomyopathy, Dilated, 1Ee |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:613252 |
| Carnitine Deficiency, Systemic Primary |
|
Cardiomyopathy, Elevated circulating alanine aminotransferase concentration, Microvesicular hepat... |
OMIM:212140 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Subvalvular aortic stenosis, Ventricular septal defect, Secundum atrial septal defect, Left ventr... |
OMIM:108900 |
| Denys-Drash Syndrome |
|
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Ambiguous genitalia, fema... |
OMIM:194080 |
| Cardiomyopathy, Dilated, 1Ff |
|
Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop... |
OMIM:613286 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Anemia, Neutropenia, Jaundice, Lymphadenopathy, Increased circulating ferritin concentration, Hem... |
OMIM:603552 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Decreased plasma carnitine, Dilated cardiomyopathy |
OMIM:611283 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Cirrhosis, Diarrhea, Jaundice, Acholic stools, Steatorrhea, Intrahepatic cholestasis, Failure to ... |
OMIM:607765 |
| Synaptic Congenital Myasthenic Syndromes |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Hypoventilation, Exertional dyspnea, ... |
ORPHA:98915 |
| Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Hypogonadism, Decreased testicu... |
OMIM:229070 |
| Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Ambiguous genitalia, Absent scrotum, Elevated circulating 17-hydroxyprogesterone concentration, S... |
OMIM:201810 |
| Focal Segmental Glomerulosclerosis 6 |
|
Renal tubular atrophy, Nephrotic syndrome, Stage 5 chronic kidney disease, Hematuria, Proteinuria... |
OMIM:614131 |
| Nemaline Myopathy 11, Autosomal Recessive |
|
Abnormal circulating creatine kinase concentration, Cardiomyopathy, Type 1 muscle fiber predomina... |
OMIM:617336 |
| Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Hematuria, Hypertension, Proteinuria, Renal insufficiency, Focal segmental glomerulosclerosis |
OMIM:607832 |
| Muscular Dystrophy, Cardiac Type |
|
Muscular dystrophy, Cardiomyopathy, Elevated circulating creatine kinase concentration, Abnormal EKG |
OMIM:309930 |
| Bardet-Biedl Syndrome 19 |
|
Ventricular septal defect, Hypogonadism, External genital hypoplasia, Atrial septal defect, Hypop... |
OMIM:615996 |
| Hemochromatosis, Type 2B |
|
Increased serum iron, Hypogonadism, Secondary amenorrhea, Elevated transferrin saturation, Conges... |
OMIM:613313 |
| Adams-Oliver Syndrome 5 |
|
Pulmonary arterial hypertension, Patent foramen ovale, Pulmonic stenosis, Right ventricular hyper... |
OMIM:616028 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Complete heart block with narrow QRS complexes, Abnormal cardiac ventricular function, Paroxysmal... |
ORPHA:1677 |
| Nephronophthisis 13 |
|
Pancreatic cysts, Hepatic cysts, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Int... |
OMIM:614377 |
| Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent pneumonia, Renal insufficiency, Membranoproliferative glomerulonephritis, Nephrotic syn... |
OMIM:613779 |
| Cardiomyopathy, Dilated, 1Jj |
|
Dilated cardiomyopathy, Reduced left ventricular ejection fraction |
OMIM:615235 |
| Alstrom Syndrome |
|
Hypothyroidism, Chronic active hepatitis, Elevated hepatic transaminase, Hepatic steatosis, Hepat... |
OMIM:203800 |
| C3 Glomerulopathy |
|
Glomerular extracapillary hypercellularity, Nephrotic syndrome, Acute kidney injury, Stage 5 chro... |
ORPHA:329918 |
| Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Type 2 muscle fib... |
OMIM:254210 |
| Stuve-Wiedemann Syndrome 2 |
|
Pulmonary arterial hypertension, Camptodactyly, Congestive heart failure, Eczema, Respiratory dis... |
OMIM:619751 |
| Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Myopathy, Apneic episodes precipitated by illness, fatigue, stress, Type 2 ... |
OMIM:605809 |
| Congenital Bilateral Absence Of Vas Deferens |
|
Oligospermia, Absent vas deferens, Male infertility, Obstructive azoospermia |
ORPHA:48 |
| Thrombophilia Due To Thrombomodulin Defect |
|
Pulmonary embolism |
OMIM:614486 |
| Functioning Gonadotropic Adenoma |
|
Impotence, Anterior hypopituitarism, Decreased female libido, Increased circulating gonadotropin ... |
ORPHA:91348 |
| Congenital Generalized Lipodystrophy |
|
Precocious puberty in females, Hypercholesterolemia, Hyperinsulinemia, Increased C-peptide level,... |
ORPHA:528 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Diarrhea, Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Hepa... |
ORPHA:264580 |
| Aortic Arch Interruption |
|
Systolic heart murmur, Left ventricular outflow tract obstruction, Truncus arteriosus, Aortopulmo... |
ORPHA:2299 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Cor pulmonale, Respiratory distress, Cough, Respiratory failure, Tachypnea |
OMIM:263000 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Limb-girdle muscle weakness, Flexion contracture, Muscular dystrophy, Elevated circulating creati... |
OMIM:609308 |
| Hemorrhagic Fever-Renal Syndrome |
|
Hypotension, Diarrhea, Acute tubulointerstitial nephritis, Elevated hepatic transaminase, Shock, ... |
ORPHA:340 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Hepatic steatosis, Hypertrophic cardiomyopathy, Skeletal muscle hypertrophy, Hepatomegaly, Primar... |
ORPHA:79083 |
| Atrial Standstill |
|
Flexion contracture, Ischemic stroke, Left ventricular noncompaction, Palpitations, Abnormal P wa... |
ORPHA:1344 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Knee flexion contracture, Vesicoureteral reflux, Skeletal myopathy, Left ventricular hypertrophy,... |
ORPHA:3208 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Renal tubular atrophy, Flexion contracture, Hypertrophic cardiomyopathy, Bone marrow hypocellular... |
OMIM:617303 |
| Schimke Immunoosseous Dysplasia |
|
Thrombocytopenia, Disproportionate short-trunk short stature, Stage 5 chronic kidney disease, Tra... |
OMIM:242900 |
| Delayed Puberty, Self-Limited |
|
Decreased circulating follicle stimulating hormone concentration, Delayed puberty, Decreased seru... |
OMIM:619613 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypothyroidism, Vomiting, Ischemic stroke, Cerebral hemorrhage, Cerebral ischemia, Syncope, Hypop... |
ORPHA:90065 |
| Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
| Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
| Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
| Pituitary Gigantism |
|
Increased circulating prolactin concentration, Type II diabetes mellitus, Left ventricular hypert... |
ORPHA:99725 |
| Pleural Mesothelioma |
|
Abnormal respiratory system physiology, Respiratory distress, Pleural effusion, Dyspnea, Cough, H... |
ORPHA:50251 |
| Immunodeficiency 97 With Autoinflammation |
|
Diarrhea, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Hepatosplenomegaly, Eos... |
OMIM:619802 |
| Galloway-Mowat Syndrome 2, X-Linked |
|
Short stature, Nephrotic syndrome, Stage 5 chronic kidney disease, Minimal change glomerulonephri... |
OMIM:301006 |
| Cardiomyopathy, Dilated, 1Dd |
|
Sudden cardiac death, Left ventricular systolic dysfunction, Congestive heart failure, Dilated ca... |
OMIM:613172 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypocalcemia, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:612526 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Pulmonary embolism, Stage 5 chronic kidney disease, Microscopic hematuria, Minimal change glomeru... |
ORPHA:567546 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Anemia, Hyperuricemia, Neutropenia, Short stature, Renal cyst, Gout, Nephropathy, Elevated circul... |
OMIM:617056 |
| Thrombophilia, X-Linked, Due To Factor Viii Defect |
|
Pulmonary embolism |
OMIM:301071 |
| Cardiomyopathy, Dilated, 2C |
|
Pulmonary arterial hypertension, Dilated cardiomyopathy, Reduced left ventricular ejection fraction |
OMIM:618189 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Increased mean platelet volume, Impa... |
OMIM:617443 |
| 3-Methylglutaconic Aciduria, Type V |
|
Sudden cardiac death, 3-Methylglutaconic aciduria, Elevated circulating alanine aminotransferase ... |
OMIM:610198 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Female hypogonadism, Primary amenorrhea, Impotence, Absence of secondary sex characteristics, Sec... |
ORPHA:432 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Abnormal circulating creatine kinase concentration, Ventricular hypertrophy, Right bundle branch ... |
ORPHA:263297 |
| Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Dilated cardiomyopathy, Congestive heart failure, Left ve... |
OMIM:615373 |
| Nephrotic Syndrome, Type 26 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:620049 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Glomerulopathy, Splenomegaly, Secondary amenorrhea, Abnormality of skeletal muscle fiber size, Co... |
ORPHA:2348 |
| Tyrosinemia, Type I |
|
Hepatocellular carcinoma, Elevated hepatic transaminase, Elevated circulating alpha-fetoprotein c... |
OMIM:276700 |
| Neurogenic Arthrogryposis Multiplex Congenita |
|
Knee flexion contracture, Wrist flexion contracture, Flexion contracture, Hip contracture, Lower ... |
ORPHA:1143 |
| Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Death in infancy, Bronchiectasis, Coombs-positive he... |
OMIM:617514 |
| Nephrotic Syndrome, Type 15 |
|
Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuria, Steroid-resistant... |
OMIM:617609 |
| Hyperaldosteronism, Familial, Type Iii |
|
Hyperaldosteronism, Decreased circulating renin level, Hypokalemia, Hypertension, Adrenal hyperpl... |
OMIM:613677 |
| Noonan Syndrome 8 |
|
Ventricular septal defect, Short stature, Left ventricular hypertrophy, Eczema, Atrial septal def... |
OMIM:615355 |
| Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hydrocele testis, Hypertrophic cardiomyopathy, Hepatomegaly, Hypocholesterolemia, Neonatal death,... |
OMIM:618810 |
| Apparent Mineralocorticoid Excess |
|
Decreased circulating aldosterone level, Short stature, Abnormality of circulating cortisol level... |
ORPHA:320 |
| Cardiomyopathy, Familial Hypertrophic, 2 |
|
Right bundle branch block, Reduced left ventricular ejection fraction, Angina pectoris, Ventricul... |
OMIM:115195 |
| Glycogen Storage Disease Ia |
|
Hyperuricemia, Decreased muscle mass, Intermittent diarrhea, Short stature, Enlarged kidney, Abno... |
OMIM:232200 |
| Late-Onset Distal Myopathy, Markesbery-Griggs Type |
|
Weakness of long finger extensor muscles, Limb-girdle muscle weakness, Wrist drop, Weakness of th... |
ORPHA:98912 |
| Fabry Disease |
|
Respiratory insufficiency, Glomerulopathy, Abnormal circulating lipid concentration, Achalasia, A... |
ORPHA:324 |
| Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy |
|
Nephropathy, IgA deposition in the glomerulus, Focal segmental glomerulosclerosis |
OMIM:182690 |
| Complement Component 4A Deficiency |
|
Glomerulonephritis, Purpura, Vasculitis |
OMIM:614380 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Thr... |
OMIM:155100 |
| Congenital Disorder Of Glycosylation, Type It |
|
Sudden cardiac death, Elevated hepatic transaminase, Elevated circulating creatine kinase concent... |
OMIM:614921 |
| Frasier Syndrome |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Male pseudohermaphroditism, Gonadal dysgenesi... |
OMIM:136680 |
| Focal Segmental Glomerulosclerosis 7 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Renal hypoplasia, Proteinuria, Focal segmenta... |
OMIM:616002 |
| 47,Xyy Syndrome |
|
Macroorchidism, Increased serum testosterone level, Azoospermia, Increased circulating gonadotrop... |
ORPHA:8 |
| Hemochromatosis, Type 4 |
|
Cirrhosis, Anemia, Impotence, Elevated transferrin saturation, Hepatic steatosis, Diabetes mellit... |
OMIM:606069 |
| Lysinuric Protein Intolerance |
|
Respiratory insufficiency, Hyperlysinuria, Diarrhea, Ornithinuria, Elevated hepatic transaminase,... |
ORPHA:470 |
| Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Hyperinsulinemia, Hypertension, Hepatic steatosis, Diabetes mellitus, Polycystic ovaries, Hepatom... |
ORPHA:79084 |
| Squalene Synthase Deficiency |
|
Knee flexion contracture, Decreased LDL cholesterol concentration, Bicuspid aortic valve, Bilater... |
OMIM:618156 |
| Abdominal Obesity-Metabolic Syndrome 4 |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr... |
OMIM:618620 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Hypothyroidism, Decreased prealbumin level, Crusting erythematous dermatitis, Elevated hepatic tr... |
ORPHA:37042 |
| Congenital Laryngeal Web |
|
Abnormal cardiac septum morphology, Respiratory distress, Stridor |
ORPHA:2374 |
| Combined Oxidative Phosphorylation Deficiency 16 |
|
Hypertrophic cardiomyopathy, Elevated circulating alanine aminotransferase concentration, Microve... |
OMIM:615395 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Anemia, Chronic diarrhea, Increased circulating antibody level, Enlarged kidney, Fail... |
OMIM:615285 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Respiratory insufficiency, Cardiomyopathy, Skeletal myopathy, Rhabdomyolysis, Lower limb muscle w... |
ORPHA:746 |
| Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Cardiomyopathy |
OMIM:609016 |
| Cln3 Disease |
|
Urinary bladder sphincter dysfunction, T-wave inversion, Left ventricular hypertrophy, Dysphagia,... |
ORPHA:228346 |
| Estrogen Resistance Syndrome |
|
Hyperinsulinemia, Enlarged polycystic ovaries, Absence of secondary sex characteristics, Abnormal... |
ORPHA:785 |
| Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Male hypogonadism, Azoospermia |
OMIM:241000 |
| Melas |
|
Hypothyroidism, Recurrent pancreatitis, Diarrhea, Abnormal mitochondria in muscle tissue, Wolff-P... |
ORPHA:550 |
| Finnish Upper Limb-Onset Distal Myopathy |
|
Fatty replacement of skeletal muscle, Amyotrophy of ankle musculature, Joint contracture of the h... |
ORPHA:399086 |
| Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Myofiber disarray, Restrictive cardiomyopathy, Type 1 fibers relatively smaller than type 2 fiber... |
OMIM:619424 |
| Nephrotic Syndrome, Type 18 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:618177 |
| Nephrotic Syndrome, Type 19 |
|
Stage 3 chronic kidney disease, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic s... |
OMIM:618178 |
| Nephrotic Syndrome, Type 20 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:301028 |
| Immunodeficiency 32B |
|
Abnormal circulating IgG level, Anemia, Monocytopenia, Bronchiectasis, Recurrent respiratory infe... |
OMIM:226990 |
| Focal Segmental Glomerulosclerosis 8 |
|
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Nephrotic syndrome |
OMIM:616032 |
| Cardiomyopathy Associated With Myopathy And Sudden Death |
|
Myopathy, Asymmetric septal hypertrophy |
OMIM:212130 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Decreased proportion of marginal zone B cells, Coombs-positive hemolytic anemia, Thyroiditis, Aut... |
OMIM:619375 |
| Idiopathic Neonatal Atrial Flutter |
|
Supraventricular tachycardia, Reduced left ventricular ejection fraction, Abnormal EKG, Respirato... |
ORPHA:45452 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Right bundle branch block, Cardiomegaly, Reduced left ventricular ejection fraction, Calf muscle ... |
ORPHA:268 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Impotence, Large vessel vasculitis, Psoriasiform dermatitis, Retrograde ejaculation, Acute kidney... |
ORPHA:49041 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Extraadrenal pheochromocytoma, Hypertension associated with pheochromocytoma, Positive regitine b... |
ORPHA:276621 |
| Glycogen Storage Disease Ib |
|
Splenomegaly, Hyperuricemia, Neutropenia, Short stature, Enlarged kidney, Hepatocellular carcinom... |
OMIM:232220 |
| Myopathy, Myofibrillar, 1 |
|
Restrictive cardiomyopathy, Third degree atrioventricular block, Facial palsy, Dilated cardiomyop... |
OMIM:601419 |
| Cardiomyopathy, Dilated, 1Hh |
|
Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume |
OMIM:613881 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Scrotal hypospadias, Ambiguous genitalia, Decreased circulating dehydroepiandrosterone-sulfate co... |
OMIM:250790 |
| Galloway-Mowat Syndrome 8 |
|
Renal tubular atrophy, Nephrotic syndrome, Stage 5 chronic kidney disease, Hematuria, Proteinuria... |
OMIM:618349 |
| Nephrotic Syndrome, Type 13 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:616893 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Respiratory insufficiency, Left ventricular hypertrophy, Elevated circulating creatine kinase con... |
OMIM:613153 |
| Nephrotic Syndrome, Type 16 |
|
Proteinuria, Minimal change glomerulonephritis, Hematuria, Nephrotic syndrome |
OMIM:617783 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Adrenogenital syndrome, Increased serum testosterone level, Decreased circulating aldosterone lev... |
OMIM:202010 |
| Pauci-Immune Glomerulonephritis |
|
Nephrotic range proteinuria, Scleritis, Glomerulonephritis, Renal interstitial immunoglobulin dep... |
ORPHA:93126 |
| Cardiomyopathy, Dilated, 1P |
|
Ventricular arrhythmia, Reduced systolic function, Congestive heart failure, Dilated cardiomyopathy |
OMIM:609909 |
| Perching Syndrome |
|
Joint contracture, Camptodactyly, Respiratory distress |
OMIM:617055 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Distal amyotrophy, Respiratory distress |
OMIM:619099 |
| Cardiomyopathy, Dilated, 1J |
|
Sudden cardiac death, Abnormal left ventricular function, Congestive heart failure, Dilated cardi... |
OMIM:605362 |
| Adrenocortical Carcinoma |
|
Increased serum estradiol, Hyperaldosteronism, Increased circulating cortisol level, Adrenocortic... |
ORPHA:1501 |
| Primary Lipodystrophy |
|
Splenomegaly, Cirrhosis, Type II diabetes mellitus, Angina pectoris, Congestive heart failure, Hy... |
ORPHA:90970 |
| Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Apnea, Increased variability in muscle fiber diameter, Right ventricular hypertrophy, Type 1 musc... |
OMIM:612949 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Hypothyroidism, Flexion contracture, Diarrhea, Pericardial effusion, Elevated hepatic transaminas... |
OMIM:212065 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal tubular atrophy, Aminoaciduria, Proximal tubulopathy, Hyposthenuria, Short stature, Beta 2-... |
OMIM:308990 |
| Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:619011 |
| Meckel Syndrome, Type 7 |
|
Pancreatic cysts, Biliary cirrhosis, Multicystic kidney dysplasia, Stage 5 chronic kidney disease... |
OMIM:267010 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... |
OMIM:616829 |
| Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenogenital syndrome, Hypertension, Adrenal hyperplasia, Primary amenorrhea |
OMIM:202110 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Hyperinsulinemia, Hyperuricemia, Cirrhosis, Type II diabetes mellitus, Oligomenorrhea, Maternal d... |
OMIM:604367 |
| Protoporphyria, Erythropoietic, 1 |
|
Hypertriglyceridemia |
OMIM:177000 |
| Tubulointerstitial Nephritis With Uveitis |
|
Non-caseating epithelioid cell granulomatosis, Acute tubulointerstitial nephritis, Uveitis, Glome... |
OMIM:607665 |
| Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
|
Centrally nucleated skeletal muscle fibers, EMG: myopathic abnormalities, Type 1 muscle fiber pre... |
OMIM:608358 |
| Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Pulmonary arterial hypertension, Heart murmur, Elevated jugular venous pressure, Syncope, Dyspnea... |
ORPHA:422 |
| Cocaine Intoxication |
|
Hypotension, Bloody diarrhea, Pneumothorax, Ischemic stroke, Ventricular arrhythmia, Supraventric... |
ORPHA:90068 |
| 49,Xyyyy Syndrome |
|
Primary gonadal insufficiency, Abnormality of the testis size, External genital hypoplasia, Decre... |
ORPHA:99330 |
| Thrombophilia Due To Protein C Deficiency, Autosomal Dominant |
|
Pulmonary embolism |
OMIM:176860 |
| Paget Disease Of Bone 6 |
|
Left ventricular hypertrophy |
OMIM:616833 |
| Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
| Autosomal Recessive Centronuclear Myopathy |
|
Respiratory insufficiency, Hip contracture, Centrally nucleated skeletal muscle fibers, Generaliz... |
ORPHA:169186 |
| Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Nephrotic syndrome, Chronic constipation, Glomerular sclerosis, Glomerulonephritis, Hypospadias, ... |
OMIM:619428 |
| Peroxisome Biogenesis Disorder 3B |
|
Hypocholesterolemia, Steatorrhea, Elevated circulating phytanic acid concentration |
OMIM:266510 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Increased total bilirubin, Jaundice, Acholic stools, Portal fibrosis, Failure to thrive, Increase... |
OMIM:619868 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Ambiguous genitalia, Flexion contracture, Decreased circulating dehydroepiandrosterone-sulfate co... |
ORPHA:95699 |
| Atrial Standstill 1 |
|
Endocardial fibroelastosis, Atrial standstill, Premature atrial contractions, Atrial cardiomyopat... |
OMIM:108770 |
| Potocki-Lupski Syndrome |
|
Hypothyroidism, Patent foramen ovale, Gastroesophageal reflux, Short stature, Atrial septal defec... |
OMIM:610883 |
| Testicular Agenesis |
|
Urogenital sinus anomaly, Ambiguous genitalia, Absent external genitalia, Urethrovaginal fistula,... |
ORPHA:325124 |
| Hemochromatosis, Type 3 |
|
Cirrhosis, Anemia, Impotence, Arthritis, Elevated transferrin saturation, Purpura, Elevated hepat... |
OMIM:604250 |
| Nephrotic Syndrome, Type 6 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuri... |
OMIM:614196 |
| Immunodeficiency 95 |
|
Respiratory failure, Respiratory distress, Recurrent viral pneumonia |
OMIM:619773 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased testicular size, Azoo... |
OMIM:614837 |
| Focal Segmental Glomerulosclerosis 9 |
|
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis |
OMIM:616220 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Renal tubular atrophy, Anemia, Hyperuricemia, Hyperechogenic kidneys, Renal hypoplasia, Proteinur... |
OMIM:613092 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Anterio... |
ORPHA:453533 |
| Ovarian Dysgenesis 9 |
|
Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Delayed pube... |
OMIM:619665 |
| Chylomicron Retention Disease |
|
Hypertriglyceridemia, Vomiting, Diarrhea, Steatorrhea, Hepatic steatosis, Failure to thrive, Hypo... |
ORPHA:71 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Extraadrenal pheochromocytoma, Hypertension associated with pheochromocytoma, Positive regitine b... |
ORPHA:29072 |
| Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Delayed puberty, Female infertility, Primary amenorrhea |
OMIM:300604 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Sudden cardiac death, Gastroesophageal reflux, Periportal fibrosis, Reduced left ventricular ejec... |
OMIM:201475 |
| Premature Ovarian Failure 17 |
|
Decreased serum estradiol, Premature ovarian insufficiency, Elevated circulating luteinizing horm... |
OMIM:619146 |
| Mt-Atp6-Related Mitochondrial Spastic Paraplegia |
|
Supraventricular arrhythmia, Distal lower limb muscle weakness, Leg muscle stiffness, Cardiomyopathy |
ORPHA:320360 |
| Cardiomyopathy, Familial Hypertrophic, 1 |
|
Subvalvular aortic stenosis, Congestive heart failure, Asymmetric septal hypertrophy, Arrhythmia |
OMIM:192600 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Patent foramen ovale, Aspiration pneumonia, Ketonuria, Left ventricular hypertrophy, Dilated card... |
OMIM:619167 |
| Myopathy And Diabetes Mellitus |
|
Skeletal myopathy, Weakness of orbicularis oculi muscle, Distal lower limb amyotrophy, Achilles t... |
ORPHA:2596 |
| Myopathy, Myofibrillar, 6 |
|
Respiratory insufficiency, Knee flexion contracture, Myofibrillar myopathy, Restrictive cardiomyo... |
OMIM:612954 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatic failure, Vomiting, Elevated circulating thyroid-stimulating hormone concentration, Primar... |
OMIM:617872 |
| Familial Glucocorticoid Deficiency |
|
Leydig cell neoplasia, Precocious puberty, Decreased circulating aldosterone level, Decreased cir... |
ORPHA:361 |
| Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal tubular atrophy, Proximal tubulopathy, Renal insufficiency, Microscopic hematuria, Glomerul... |
OMIM:310468 |
| Muscular Dystrophy, Duchenne Type |
|
Knee flexion contracture, Cardiomyopathy, Hypoventilation, Flexion contracture, Abnormal EKG, Cal... |
OMIM:310200 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Increased variability in muscle fiber diameter, Flexion contracture, Dilated cardiomyopathy, Elev... |
OMIM:300718 |
| Ataxia-Pancytopenia Syndrome |
|
Abnormal platelet function, Decreased circulating antibody level |
ORPHA:2585 |
| Membranoproliferative Glomerulonephritis, X-Linked |
|
Membranoproliferative glomerulonephritis, Cardiac shunt |
OMIM:305800 |
| Hyperprolactinemia |
|
Increased circulating prolactin concentration, Female infertility, Menorrhagia, Oligomenorrhea |
OMIM:615555 |
| Duchenne Muscular Dystrophy |
|
Respiratory insufficiency, Flexion contracture, Calf muscle hypertrophy, Elevated circulating cre... |
ORPHA:98896 |
| Immunodeficiency 48 |
|
Panhypogammaglobulinemia, Diarrhea, Failure to thrive, Absence of CD8-positive T cells, Pneumonia... |
OMIM:269840 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Recurrent respiratory infections, Decreased circulating antibody level, Hepatitis, Pancytopenia, ... |
OMIM:300635 |
| African Iron Overload |
|
Abnormal thyroid morphology, Hepatic fibrosis, Increased circulating cortisol level, Abnormality ... |
ORPHA:139507 |
| Azoospermia, Obstructive, With Nephrolithiasis |
|
Spermatocele, Male infertility, Obstructive azoospermia |
OMIM:301060 |
| Congenital Disorder Of Glycosylation, Type Ik |
|
Splenomegaly, Flexion contracture, Hypogonadism, Hepatomegaly, Joint contracture, Intrauterine gr... |
OMIM:608540 |
| Cushing Disease |
|
Pituitary corticotropic cell adenoma, Increased circulating cortisol level, Secondary amenorrhea,... |
ORPHA:96253 |
| C1Q Deficiency 1 |
|
Membranoproliferative glomerulonephritis |
OMIM:613652 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypothyroidism, Diarrhea, Hepatocellular carcinoma, Hepatic steatosis, Hyperlipidemia, Xanthelasm... |
ORPHA:79259 |
| Systemic Lupus Erythematosus 16 |
|
Lupus nephritis |
OMIM:614420 |
| Microcephaly-Capillary Malformation Syndrome |
|
Vesicoureteral reflux, Patent foramen ovale, Ventricular septal defect, Short stature, Atrial sep... |
OMIM:614261 |
| Premature Ovarian Failure 10 |
|
Hypothyroidism, Premature ovarian insufficiency, Decreased testicular size, Azoospermia, Hypoplas... |
OMIM:612885 |
| Glycogen Storage Disease Iii |
|
Ventricular hypertrophy, Elevated circulating creatine kinase concentration, Myopathy, Hepatomega... |
OMIM:232400 |
| Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenogenital syndrome, Hypertension, Adrenal hyperplasia |
OMIM:201910 |
| Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Pulmonary embolism, Hypertension, Congestive heart failure, Hypertrophic cardiomyopathy, Arrhythm... |
ORPHA:1345 |
| Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:617743 |
| Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:616780 |
| Hemochromatosis, Type 1 |
|
Splenomegaly, Telangiectasia, Cirrhosis, Impotence, Azoospermia, Congestive heart failure, Hepato... |
OMIM:235200 |
| Focal Segmental Glomerulosclerosis 4, Susceptibility To |
|
Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis |
OMIM:612551 |
| Thymoma |
|
Rheumatoid arthritis, Pure red cell aplasia, Ulcerative colitis, Myositis, Glomerulonephritis, Ne... |
ORPHA:99867 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatic fibrosis, Cirrhosis, Short stature, Abnormality of the kidney, Hepatocellular carcinoma, ... |
ORPHA:369 |
| Gitelman Syndrome |
|
Parathyroid adenoma, Diarrhea, Pericardial effusion, Neoplasm of the pancreas, Graves disease, Pa... |
ORPHA:358 |
| Lymphoproliferative Syndrome 1 |
|
Leukopenia, Anemia, Decreased circulating antibody level, Stomatitis, Pancytopenia, Autoimmune th... |
OMIM:613011 |
| Cardiomyopathy, Dilated, 1Z |
|
Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy |
OMIM:611879 |
| Non-Functioning Pituitary Adenoma |
|
Impotence, Anterior hypopituitarism, Adrenal insufficiency, Decreased female libido, Increased ci... |
ORPHA:91349 |
| Ovarian Fibrothecoma |
|
Increased serum testosterone level, Gonadal calcification, Abnormal circulating hormone concentra... |
ORPHA:314478 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Tubulointerstitial nephritis, Hypotension, Hyperuricemia, Anemia, Stage 5 ... |
OMIM:174000 |
| Postinfectious Vasculitis |
|
Ischemic stroke, Elevated haptoglobin level, Cerebral vasculitis, Viral hepatitis, Glomerulonephr... |
ORPHA:48435 |
| Thrombophilia Due To Thrombin Defect |
|
Pulmonary embolism |
OMIM:188050 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Decreased testicular size, Congenital muscular dystrophy, Abnormality of the ovary, Hypogonadism |
ORPHA:1875 |
| Systemic Sclerosis |
|
Flexion contracture, Elevated circulating creatine kinase concentration, Pericarditis, Glomerulon... |
ORPHA:90291 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Calf muscle hypertrophy, Hepatic steatosis, Decreased serum leptin, Polycystic ovaries, Decreased... |
ORPHA:435651 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Generalized amyotrophy, Respiratory distress, Hypertrophic cardiomyopathy, Hepatomegaly, Ragged-r... |
OMIM:613561 |
| Brucellosis |
|
Sacroiliac arthritis, Septic arthritis, Hip osteoarthritis, Pericarditis, Glomerulonephritis, Ple... |
ORPHA:1304 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Neutropenia, Hyperbilirubinemi... |
ORPHA:158057 |
| Spinocerebellar Ataxia 32 |
|
Testicular atrophy, Infertility, Azoospermia |
OMIM:613909 |
| Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Male infertility, Azoospermia |
ORPHA:276183 |
| Mccune-Albright Syndrome |
|
Decreased fertility, Irregular menstruation, Increased circulating prolactin concentration, Preco... |
ORPHA:562 |
| Oculorenocerebellar Syndrome |
|
Nephropathy, Glomerular sclerosis |
OMIM:257970 |
| Ciliary Dyskinesia, Primary, 2 |
|
Bronchiectasis, Immotile cilia, Infertility, Respiratory distress, Dextrocardia, Sinusitis, Situs... |
OMIM:606763 |
| Sensorineural Deafness With Dilated Cardiomyopathy |
|
Abnormal cardiac ventricular function, Dilated cardiomyopathy, Congestive heart failure |
ORPHA:217622 |
| Acute Lung Injury |
|
Increased circulating surfactant protein level, Hypoxemia, Respiratory distress, Diffuse alveolar... |
ORPHA:178320 |
| Premature Ovarian Failure 19 |
|
Irregular menstruation, Female infertility, Premature ovarian insufficiency, Secondary amenorrhea |
OMIM:619245 |
| Cardiomyopathy, Familial Hypertrophic, 12 |
|
Sudden cardiac death, Reduced left ventricular endsystolic diameter, Ventricular septal hypertrop... |
OMIM:612124 |
| Glucocorticoid Resistance, Generalized |
|
Irregular menstruation, Increased serum testosterone level, Increased circulating cortisol level,... |
OMIM:615962 |
| Avian Influenza |
|
Pneumothorax, Diarrhea, Productive cough, Elevated hepatic transaminase, Elevated circulating cre... |
ORPHA:454836 |
| Immunodeficiency 27A |
|
Anemia, Diarrhea, Weight loss, Increased circulating IgG level, Hepatosplenomegaly, Lymphadenopat... |
OMIM:209950 |
| Preeclampsia |
|
Increased body mass index, Small for gestational age, Elevated systolic blood pressure, Type I di... |
ORPHA:275555 |
| Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased serum testosterone co... |
OMIM:614839 |
| Endocardial Fibroelastosis |
|
Restrictive cardiomyopathy, Anterior hypopituitarism, Hypoplasia of penis, Congestive heart failu... |
ORPHA:2022 |
| Recurrent Respiratory Papillomatosis |
|
Respiratory insufficiency, Syncope, Respiratory distress, Recurrent pneumonia, Upper airway obstr... |
ORPHA:60032 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
3-hydroxydicarboxylic aciduria, Hepatic failure, Hyperalaninemia, Ketonuria, Increased urine alph... |
OMIM:619355 |
| Lipodystrophy, Familial Partial, Type 4 |
|
Hypertriglyceridemia |
OMIM:613877 |
| Hypercholesterolemia, Familial, 3 |
|
Hypercholesterolemia, Abnormal LDL cholesterol concentration, Xanthelasma |
OMIM:603776 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Glomerulonephritis, Thrombocytopenia, Abnormal bleeding, Hematuria |
OMIM:314000 |
| Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Pulmonary arterial hypertension, Hyperalaninemia, Hyperprolinemia, Neonatal respiratory distress,... |
OMIM:619003 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Ambiguous genitalia, Decreased circulating aldosterone level, Ambiguous genitalia, female, Decrea... |
ORPHA:90794 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Hypothyroidism, Anemia, Chronic diarrhea, Hepatitis, Arthritis, Coombs-positive hemolytic anemia,... |
OMIM:304790 |
| Cryptogenic Organizing Pneumonia |
|
Pneumothorax, Hypoxemia, Respiratory distress, Crackles, Restrictive ventilatory defect, Dyspnea,... |
ORPHA:1302 |
| Bleeding Disorder, Platelet-Type, 8 |
|
Impaired ADP-induced platelet aggregation |
OMIM:609821 |
| Myopathy, Distal, 1 |
|
Toe extensor amyotrophy, Weakness of long finger extensor muscles, Amyotrophy of ankle musculatur... |
OMIM:160500 |
| Maternal Uniparental Disomy Of Chromosome 6 |
|
Increased serum testosterone level, Hydrocele testis, Miscarriage, Congenital adrenal hyperplasia... |
ORPHA:96181 |
| Systemic Lupus Erythematosus |
|
Malar rash, Leukopenia, Hemolytic anemia, Arthritis, Nephritis, Pericarditis, Lupus nephritis, Th... |
OMIM:152700 |
| Long Qt Syndrome 13 |
|
Pulmonary embolism, Torsade de pointes, Permanent atrial fibrillation, Reduced left ventricular e... |
OMIM:613485 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Abnormal labia majora morphology, Elevated circulating creatine kinase concentration, Hepatic ste... |
ORPHA:435660 |
| Glycogen Storage Disease Ic |
|
Pulmonary arterial hypertension, Spider hemangioma, Chronic pancreatitis, Hyperuricemia, Hematuri... |
OMIM:232240 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pneumothorax, Bronchiectasis, Pericardial effusion, Respiratory distress, Chronic pulmonary obstr... |
ORPHA:411703 |
| Atrial Standstill 2 |
|
Dilatation of the ventricular cavity, Hyperpepsinogenemia I, Atrial standstill, Atrial cardiomyop... |
OMIM:615745 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Respiratory insufficiency, Hypothyroidism, Ventricular arrhythmia, Elevated hepatic transaminase,... |
ORPHA:254892 |
| Mitochondrial Complex I Deficiency, Nuclear Type 14 |
|
Apnea, Hypertrophic cardiomyopathy, Biventricular hypertrophy, Myopathy |
OMIM:618236 |
| Caspase 8 Deficiency |
|
Decreased CD4:CD8 ratio, Decreased circulating total IgM, Decreased T cell activation, Recurrent ... |
OMIM:607271 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Abnormal lymph node morphology, Pituitary corticotropic cell adenoma, Diarrhea, Capillary fragili... |
ORPHA:99889 |
| Laubry-Pezzi Syndrome |
|
Elevated pulmonary artery pressure, Patent foramen ovale, Right ventricular outlet tract obstruct... |
ORPHA:99094 |
| Laryngotracheal Angioma |
|
Intercostal retractions, Respiratory distress, Apnea, Cough, Stridor, Wheezing |
ORPHA:137935 |
| Acquired Generalized Lipodystrophy |
|
Hyperinsulinemia, Abnormal circulating lipid concentration, Cirrhosis, Hypertension, Hepatic stea... |
ORPHA:79086 |
| Cardiomyopathy, Dilated, 1B |
|
Impaired myocardial contractility, Ventricular arrhythmia, Congestive heart failure, Dilated card... |
OMIM:600884 |
| Analbuminemia |
|
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypercho... |
OMIM:616000 |
| Ovarian Dysgenesis 10 |
|
Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Delayed pube... |
OMIM:619834 |
| Maternally-Inherited Diabetes And Deafness |
|
Glomerulopathy, Abnormal circulating lipid concentration, Type II diabetes mellitus, Congestive h... |
ORPHA:225 |
| Premature Ovarian Failure 16 |
|
Premature ovarian insufficiency, Elevated circulating follicle stimulating hormone level, Reduced... |
OMIM:618723 |
| Spermatogenic Failure 13 |
|
Azoospermia |
OMIM:615841 |
| Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
| Spermatogenic Failure 75 |
|
Early spermatogenesis maturation arrest, Elevated circulating follicle stimulating hormone level,... |
OMIM:619949 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Tubulointerstitial nephritis, Cerebellar hemorrhage, Leukopenia, Vomiting, Hyperglycinemia, Methy... |
OMIM:251000 |
| Indomethacin Embryofetopathy |
|
Respiratory insufficiency, Ventricular septal defect, Atrial septal defect, Cardiomyopathy |
ORPHA:1909 |
| Genetic Steroid-Resistant Nephrotic Syndrome |
|
Stage 5 chronic kidney disease, Peritonitis, Minimal change glomerulonephritis, Foamy urine, Diff... |
ORPHA:656 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Hepatic steatosis, Decreased serum leptin, Polycystic ovaries, Decreased adiponectin level, Insul... |
ORPHA:79085 |
| Secondary Intestinal Lymphangiectasia |
|
Cirrhosis, Decreased prealbumin level, Chronic diarrhea, Vomiting, Decreased circulating total Ig... |
ORPHA:90363 |
| Gray Platelet Syndrome |
|
Abnormality of thrombocytes, Abnormality of the menstrual cycle, Epistaxis, Thrombocytopenia, Spl... |
ORPHA:721 |
| Malaria |
|
Elevated circulating C-reactive protein concentration, Hyperbilirubinemia, Respiratory distress |
ORPHA:673 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Hydronephrosis, Patent foramen ovale, Gastroesophageal reflux, Hypoplasia of the thymus, Morgagni... |
OMIM:613177 |
| Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome |
|
Glomerulonephritis, Chronic kidney disease |
ORPHA:2172 |
| Simple Cryoglobulinemia |
|
Chronic lymphatic leukemia, Nephrotic syndrome, Abnormality of the kidney, Arthritis, Raynaud phe... |
ORPHA:91139 |
| Ventricular Tachycardia, Familial |
|
Sudden cardiac death, Right bundle branch block, Paroxysmal ventricular tachycardia, Cardiomyopathy |
OMIM:192605 |
| Familial Isolated Restrictive Cardiomyopathy |
|
Interstitial cardiac fibrosis, Supraventricular arrhythmia, Syncope, Hypertrophic cardiomyopathy,... |
ORPHA:75249 |
| Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
| Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility |
OMIM:619009 |
| Galloway-Mowat Syndrome 5 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:617731 |
| Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Abnormality of the Achilles tendon, Calf muscle hypertrophy, Muscular dystrophy, Reduced muscle f... |
ORPHA:34515 |
| Cardiomyopathy, Dilated, 2G |
|
Myofiber disarray, Right bundle branch block, Cerebral hemorrhage, Myocardial sarcomeric disarray... |
OMIM:619897 |
| Coronary Arterial Fistula |
|
Systolic heart murmur, Angina pectoris, Abnormal left ventricular function, Palpitations, Patent ... |
ORPHA:2041 |
| Heart-Hand Syndrome, Slovenian Type |
|
Supraventricular arrhythmia, Dilated cardiomyopathy, Abnormal electrophysiology of sinoatrial nod... |
ORPHA:168796 |
| 46,Xx Sex Reversal 5 |
|
Urogenital sinus anomaly, Ambiguous genitalia, Increased serum testosterone level |
OMIM:618901 |
| Lipoid Congenital Adrenal Hyperplasia |
|
Adrenogenital syndrome, Congenital adrenal hyperplasia |
OMIM:201710 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6 |
|
Distal arthrogryposis, Plantar flexion contracture, Wrist drop, Diaphragmatic eventration, Parado... |
OMIM:620011 |
| Immunodeficiency 69 |
|
Anemia, Diarrhea, Pancytopenia, Hepatosplenomegaly, Failure to thrive, Increased circulating ferr... |
OMIM:618963 |
| Immunodeficiency 104 |
|
Gastroesophageal reflux, T lymphocytopenia, Diarrhea, Lymphadenopathy, Failure to thrive secondar... |
OMIM:608971 |
| Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hyperlysinemia, Hyperthreoninemia, Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Decr... |
OMIM:605814 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Gastroesophageal reflux, Decreased liver function, Central sleep apnea, Congestive heart failure,... |
ORPHA:70472 |
| Combined Oxidative Phosphorylation Deficiency 9 |
|
Tubulointerstitial nephritis, Patent foramen ovale, Elevated circulating alanine aminotransferase... |
OMIM:614582 |
| Childhood-Onset Spasticity With Hyperglycinemia |
|
Nonketotic hyperglycinemia, Left ventricular hypertrophy |
ORPHA:401866 |
| Incessant Infant Ventricular Tachycardia |
|
Supraventricular tachycardia, Histiocytoid cardiomyopathy, Cardiac rhabdomyoma, Cardiac arrest, W... |
ORPHA:45453 |
| Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Camptodactyly of finger, 3-Methylglutaconic aciduria, Flexion contracture, Respiratory failure, A... |
ORPHA:1194 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Bronchiectasis, Defective T cell proliferation, Increased circulating IgG level, Decreased propor... |
OMIM:618534 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Pericardial effusion, Exercise-induced rhabdomyolysis, Elevated circulating creatine kinase conce... |
ORPHA:26793 |
| Thrombocytopenia 2 |
|
Thrombocytopenia, Leukocytosis |
OMIM:188000 |
| Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
| Myopathy, Myofibrillar, 4 |
|
Muscle fiber splitting, Autophagic vacuoles, EMG: myopathic abnormalities, Elevated circulating c... |
OMIM:609452 |
| Atrial Septal Defect, Sinus Venosus Type |
|
Systolic heart murmur, Supraventricular arrhythmia, Premature atrial contractions, Airway obstruc... |
ORPHA:99105 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Splenomegaly, Anemia, Respiratory distress, Hyperammonemia, Thrombocytopenia, Hepatomegaly, Renal... |
ORPHA:79312 |
| Adult-Onset Nemaline Myopathy |
|
Increased variability in muscle fiber diameter, Flexion contracture, Lower limb muscle weakness, ... |
ORPHA:171442 |
| Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Abnormal alpha granule content, Impaired platelet aggregation, Abnormal dense granule content, Pr... |
OMIM:601399 |
| Nephrotic Syndrome, Type 22 |
|
Nephrotic range proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease, Podocyte foot pr... |
OMIM:619155 |
| Combined Oxidative Phosphorylation Deficiency 31 |
|
Hypertrophic cardiomyopathy, Hyperalaninemia, Left ventricular noncompaction |
OMIM:617228 |
| Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Increased C-peptide level, Diarrhea, Decreased plasma carnitine, Elevated hepatic transaminase, D... |
ORPHA:71212 |
| Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Increased circulating ACTH level, Congenital adrenal hyperplasia |
OMIM:613571 |
| Severe Acute Respiratory Syndrome |
|
Hypoxemia, Respiratory distress, Dyspnea, Cough, Respiratory failure requiring assisted ventilati... |
ORPHA:140896 |
| Woodhouse-Sakati Syndrome |
|
Hypothyroidism, Hyperinsulinemia, Abnormal spermatogenesis, Decreased response to growth hormone ... |
ORPHA:3464 |
| Cardiomyopathy, Dilated, 1K |
|
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm |
OMIM:605582 |
| Thrombocytopenic Purpura, Autoimmune |
|
Thrombocytopenia |
OMIM:188030 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:615812 |
| Hermansky-Pudlak Syndrome 9 |
|
Thrombocytopenia, Abnormal platelet aggregation |
OMIM:614171 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Diarrhea, Sclerosing cholangitis, Hepatomegaly, Absence of lymph node germinal center, Thrombocyt... |
OMIM:308230 |
| Premature Ovarian Failure 8 |
|
Decreased serum estradiol, Premature ovarian insufficiency, Elevated circulating follicle stimula... |
OMIM:615723 |
| 46,Xx Sex Reversal 2 |
|
Sex reversal, Bifid scrotum, Hypoplasia of the vagina, Perineal hypospadias, True hermaphroditism... |
OMIM:278850 |
| Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Nodular regenerative hyperplasia of liver, Abnormal pleura morphology, Hepatosplenomegaly, Increa... |
ORPHA:210136 |
| Cardiomyopathy, Dilated, 2D |
|
Pulmonary arterial hypertension, Patent foramen ovale, Interstitial cardiac fibrosis, Reduced lef... |
OMIM:619371 |
| Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) |
|
Left ventricular hypertrophy |
OMIM:614458 |
| Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress |
OMIM:616341 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypothyroidism, Decreased muscle mass, Short stature, Hypopituitarism, Elevated hepatic transamin... |
OMIM:619013 |
| Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Cardiomyopathy |
OMIM:619647 |
| Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Proteinuria, Hematuria, Membranoproliferative glomerulonephritis, Nephrotic syndrome |
OMIM:613913 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Elevated hepatic transaminase, Mildly elevated creatine kinase, Hepatic steatosis, Foot dorsiflex... |
OMIM:618400 |
| Lethal Infantile Mitochondrial Myopathy |
|
Neonatal respiratory distress, Cardiomyopathy |
ORPHA:254857 |
| Cardiomyopathy, Dilated, 1Ii |
|
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Elevated circulating cre... |
OMIM:615184 |
| Congenital Myopathy 5 With Cardiomyopathy |
|
Sudden cardiac death, Increased variability in muscle fiber diameter, Centrally nucleated skeleta... |
OMIM:611705 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Distal arthrogryposis, Vomiting, Exertional dyspnea, Diarrhea, Elevated urinary 3-hydroxybutyric ... |
ORPHA:42 |
| Androgen Insensitivity, Partial |
|
Hypogonadism, Bifid scrotum, Perineal hypospadias, Infertility, Azoospermia, Male pseudohermaphro... |
OMIM:312300 |
| Cog4-Cdg |
|
Cirrhosis, Intermittent diarrhea, Hepatosplenomegaly, Recurrent upper respiratory tract infection... |
ORPHA:263501 |
| Alpha-1-Antitrypsin Deficiency |
|
Splenomegaly, Reduced serum alpha-1-antitrypsin, Bronchiectasis, Chronic pulmonary obstruction, C... |
OMIM:613490 |
| Hypercholesterolemia, Familial, 2 |
|
Hypercholesterolemia, Increased LDL cholesterol concentration, Xanthelasma |
OMIM:144010 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory insufficiency, Left ventricular outflow tract obstruction, Flexion contracture, Eleva... |
ORPHA:365 |
| Mitochondrial Pyruvate Carrier Deficiency |
|
Increased serum pyruvate, Respiratory distress, Hepatomegaly |
OMIM:614741 |
| Mogs-Cdg |
|
Hypothyroidism, Hypoventilation, External genital hypoplasia, Chronic constipation, Left ventricu... |
ORPHA:79330 |
| Nephrotic Syndrome, Type 3 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Proteinuria, Foc... |
OMIM:610725 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Atrioventricular canal defect, Asplenia, Pleural effusion, Patent foramen ovale, Pulmonary insuff... |
OMIM:265380 |
| Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue |
|
Triangular tongue, Calf muscle hypertrophy, Muscular dystrophy, Dilated cardiomyopathy, Macroglos... |
OMIM:616827 |
| Ogden Syndrome |
|
Torsade de pointes, Diarrhea, Secundum atrial septal defect, Eczema, Premature atrial contraction... |
OMIM:300855 |
| Symptomatic Form Of Hemochromatosis Type 1 |
|
Hypothyroidism, Abnormality of iron homeostasis, Hepatocellular carcinoma, Cholangiocarcinoma, Ch... |
ORPHA:465508 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Wrist flexion contracture, Muscle fiber splitting, Flexion contracture, Quadriceps muscle atrophy... |
ORPHA:206549 |
| Propionic Acidemia |
|
Cardiomyopathy, Hyperammonemia, Hepatomegaly, Arrhythmia |
ORPHA:35 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Labial hypertrophy, Elevated hepatic transaminase, Hepatic steatosis, Hypertrophic cardiomyopathy... |
OMIM:269700 |
| Lymphatic Filariasis |
|
Vaginal hydrocele, Lymphadenitis, Abnormality of the scrotum, Hypereosinophilia, Nephrotic syndro... |
ORPHA:2035 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Elevated hepatic transaminase, Hepatic steatosis, Duplicated collecting system, Decreased liver f... |
OMIM:617093 |
| Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Distal amyotrophy, Cardiomyopathy |
OMIM:610100 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Bronchiectasis, Recurrent lower respiratory tract infections, Neutropenia in presence of anti-neu... |
OMIM:619220 |
| Hyperlipoproteinemia, Type I |
|
Hypercholesterolemia, Increased circulating chylomicron concentration, Hyperlipidemia, Lactescent... |
OMIM:238600 |
| Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Hypertriglyceridemia, Decreased HDL chole... |
ORPHA:650 |
| Woodhouse-Sakati Syndrome |
|
Elevated circulating thyroid-stimulating hormone concentration, Premature ovarian insufficiency, ... |
OMIM:241080 |
| Cardiomyopathy, Dilated, 2F |
|
Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop... |
OMIM:619747 |
| Staphylococcal Necrotizing Pneumonia |
|
Hypotension, Leukopenia, Pneumothorax, Pleural empyema, Neutrophilia, Hypoxemia, Respiratory dist... |
ORPHA:36238 |
| Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hypermethioninemia, Increased variability in muscle fiber diameter, Cardiomyopathy, Increased cir... |
OMIM:613752 |
| Mitochondrial Complex I Deficiency, Nuclear Type 22 |
|
Respiratory insufficiency, Hypertrophic cardiomyopathy |
OMIM:618243 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory insufficiency, Spinal muscular atrophy, Ventilator dependence with inability to wean,... |
ORPHA:254875 |
| Ovarian Dysgenesis 5 |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Primary amenorrhea, El... |
OMIM:617690 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Irregular menstruation, Increased C-peptide level, Diabetic ketoacidosis, Hypertension, Hepatic s... |
OMIM:615238 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory insufficiency, Hyperglycinemia, Respiratory distress, Dilated cardiomyopathy, Hypertr... |
OMIM:614299 |
| Autoimmune Lymphoproliferative Syndrome |
|
Coombs-positive hemolytic anemia, Hepatocellular carcinoma, Reticulocytosis, Glomerulonephritis, ... |
ORPHA:3261 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Decreased fertility in females, Hyperinsulinemia, Cirrhosis, Insulin-resistant diabetes mellitus ... |
OMIM:608594 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory insufficiency, Knee flexion contracture, Hip contracture, Spinal muscular atrophy, El... |
ORPHA:1145 |
| Female Infertility Due To Oocyte Meiotic Arrest |
|
Abnormal spermatogenesis, Polycystic ovaries, Oocyte arrest at metaphase I, Female infertility, A... |
ORPHA:488191 |
| Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
| Gray Platelet Syndrome |
|
Abnormal number of alpha granules, Impaired collagen-induced platelet aggregation, Prolonged blee... |
OMIM:139090 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Pulmonic stenosis, Elevated circulating acylcarnitine concentration, Dilated cardiomyopathy, Decr... |
ORPHA:79159 |
| Mullerian Aplasia And Hyperandrogenism |
|
Increased circulating dehydroepiandrosterone-sulfate concentration, Abnormal external genitalia, ... |
OMIM:158330 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory failure, Dyspnea, Respiratory distress |
ORPHA:1832 |
| Attrv30M Amyloidosis |
|
Impotence, Atrioventricular block, Arrhythmia, Cardiomegaly, Cardiomyopathy |
ORPHA:85447 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Gastroesophageal reflux, Vomiting, Diarrhea, Abnormal renal physiology, Hypertension, Glomerular ... |
OMIM:223900 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Antenatal intracerebral hemorrhage, Respiratory insufficiency, Diarrhea, Renal dysplasia, Elbow f... |
OMIM:608836 |
| Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Right bundle branch block, Limb-girdle muscular dystrophy, Calf muscle hypertrophy, Reduced muscl... |
ORPHA:206559 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Primary gonadal insufficiency, Primary amenorrhea, Decreased serum estradiol, Impotence, Absence ... |
ORPHA:2232 |
| Immunodeficiency 46 |
|
Anemia, Decreased circulating antibody level, Recurrent sinopulmonary infections, Failure to thri... |
OMIM:616740 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Pulmonary arterial hypertension, Patent foramen ovale, Gastroesophageal reflux, Congenital megaur... |
ORPHA:280633 |
| Adenohypophysitis |
|
Increased circulating prolactin concentration, Abnormal size of pituitary gland, Gonadotropin def... |
ORPHA:95512 |
| Leishmaniasis |
|
Leukopenia, Anemia, Weight loss, Abnormal macrophage morphology, Increased circulating antibody l... |
ORPHA:507 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Aminoaciduria, Gastroesophageal reflux, Ventricular septal defect, Short stature, Sideroblastic a... |
OMIM:249270 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory insufficiency, Flexion contracture, Abnormal muscle glycogen content, Dilated cardiom... |
ORPHA:367 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Hypothyroidism, Anemia, Vomiting, Diarrhea, Death in infancy, Ascites, Failure to thrive, Decreas... |
OMIM:608104 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating acylcarnitine concentration, Dicarboxylic aciduria, Elevated circulating cre... |
ORPHA:228308 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased CD4:CD8 ratio, Decreased T cell activation, Bronchiectasis, Recurrent bronchitis, Recur... |
OMIM:300853 |
| Cardiac Diverticulum |
|
Angina pectoris, Bicuspid pulmonary valve, Palpitations, Endocarditis, Patent foramen ovale, Vent... |
ORPHA:1686 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomy... |
OMIM:617912 |
| Abetalipoproteinemia |
|
Hypothyroidism, Keratoconjunctivitis sicca, Elevated hepatic transaminase, Reticulocytosis, Hepat... |
ORPHA:14 |
| Bardet-Biedl Syndrome 1 |
|
Hepatic fibrosis, Hypogonadism, Decreased testicular size, Abnormality of the kidney, Asthma, Abn... |
OMIM:209900 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Hypertriglyceridemia |
OMIM:608600 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Short stature, Enlarged kidney, Membranoproliferative glomerulonephritis, Hypertension, Increased... |
ORPHA:251004 |
| Combined Oxidative Phosphorylation Deficiency 20 |
|
Respiratory insufficiency, Hypertrophic cardiomyopathy, Hyperalaninemia, Left ventricular noncomp... |
OMIM:615917 |
| Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency |
|
Pulmonary embolism |
ORPHA:82 |
| Hyperlipoproteinemia, Type Id |
|
Decreased LDL cholesterol concentration, Hyperlipoproteinemia, Decreased HDL cholesterol concentr... |
OMIM:615947 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Dysphagia, Diarrhea, Generalized amyotrophy, Dilated cardiomyopathy, Elevated circulating creatin... |
ORPHA:352447 |
| Childhood-Onset Nemaline Myopathy |
|
Increased variability in muscle fiber diameter, Flexion contracture, Arthrogryposis multiplex con... |
ORPHA:171439 |
| Respiratory Distress Syndrome In Premature Infants |
|
Neonatal respiratory distress, Dyspnea, Respiratory distress, Tachypnea |
OMIM:267450 |
| Coenzyme Q10 Deficiency, Primary, 6 |
|
Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Proteinuria, Steroid-resistant nephr... |
OMIM:614650 |
| Primary Sjögren Syndrome |
|
Biliary cirrhosis, Chronic active hepatitis, Keratoconjunctivitis sicca, Myositis, Glomerulonephr... |
ORPHA:289390 |
| Laryngomalacia |
|
Congenital laryngeal stridor, Respiratory distress |
OMIM:150280 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Elevated circulating alanine aminotransferase concentration, Elevated hepatic transaminase, Male ... |
OMIM:615381 |
| Nephrotic Syndrome, Type 4 |
|
Nephroblastoma, Nephrotic syndrome, Diffuse mesangial sclerosis, Renal insufficiency, Focal segme... |
OMIM:256370 |
| Immunodeficiency 47 |
|
Hepatic steatosis, Hepatomegaly, Chronic diarrhea, Hypercholesterolemia, Thrombocytopenia, Spleno... |
OMIM:300972 |
| Familial Isolated Dilated Cardiomyopathy |
|
Myopathy, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration |
ORPHA:154 |
| Quebec Platelet Disorder |
|
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation |
OMIM:601709 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Elevated circulating alanine aminotransferase concentration, Renal tubular acidosis, Diarrhea, Di... |
OMIM:255120 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
T lymphocytopenia, Increased proportion of transitional B cells, Bronchiectasis, Decreased circul... |
OMIM:615513 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Elevated circulating crea... |
OMIM:612937 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Granulocytopenia, Normo... |
ORPHA:75564 |
| Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
| Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
| Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
| Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
| Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
| Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
| Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
| Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Female infertility |
OMIM:617996 |
| Slc35A1-Cdg |
|
Pulmonary hemorrhage, Subcutaneous hemorrhage, Hypoxemia, Respiratory distress, Abnormal bleeding... |
ORPHA:238459 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Elevated circulating thyroid-stimulating hormone concentration, Macroglossia, Respiratory distres... |
ORPHA:226313 |
| Preeclampsia/Eclampsia 1 |
|
Thrombocytopenia, Hypertension |
OMIM:189800 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased total bilirubin, Leukopenia, Anemia, Increased VLDL cholesterol concentration, Jaundice... |
OMIM:267700 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Myofiber disarray, Increased variability in muscle fiber diameter, Irregular respiration, Cardiac... |
OMIM:604377 |
| Burkitt Lymphoma |
|
Abnormal lymph node morphology, Hyperuricemia, Abnormality of the liver, Abnormality of the pancr... |
ORPHA:543 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia, Hypertension |
OMIM:166990 |
| Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Hemolytic-uremic syndrome, Anemia, Rhizomelia, Short stature, Giant platelets, Left ventricular h... |
OMIM:611209 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Anemia, Respiratory distress, Hyperammonemia, Thrombocytopenia, Growth delay, Hepatomegaly, Renal... |
ORPHA:289916 |
| Panhypophysitis |
|
Increased circulating prolactin concentration, Abnormal size of pituitary gland, Gonadotropin def... |
ORPHA:95513 |
| Dpm3-Cdg |
|
Calf muscle hypertrophy, Muscular dystrophy, Dilated cardiomyopathy, Pelvic girdle muscle weaknes... |
ORPHA:263494 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Diabetes insipidus, Decreased LDL cholesterol concentration, Decreased body weight, Diarrhea, Typ... |
ORPHA:96180 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Abnormal circulating lipid concentration, Lower limb muscle weakness, Muscular dystrophy, Hyperte... |
OMIM:615980 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
| Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Cardiomyopathy |
OMIM:619651 |
| Pgm3-Cdg |
|
T lymphocytopenia, Bronchiectasis, Eczema, Bone marrow hypocellularity, Eosinophilia, Decreased p... |
ORPHA:443811 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Ventricular arrhythmia, Supraventricular arrhythmia, Hepatic steatosis, Hypertrophic cardiomyopat... |
ORPHA:280365 |
| Al Amyloidosis |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Dysphagia, Abnormal P wave, Nonproductive cough, Howel... |
ORPHA:85443 |
| Carvajal Syndrome |
|
Congestive heart failure, Dilated cardiomyopathy |
ORPHA:65282 |
| Mitochondrial Dna Depletion Syndrome 11 |
|
Respiratory insufficiency, Generalized amyotrophy, Dilated cardiomyopathy, Elevated circulating c... |
OMIM:615084 |
| Igg4-Related Kidney Disease |
|
Nephrotic range proteinuria, Prostatitis, Sclerosing cholangitis, Pericarditis, Renal interstitia... |
ORPHA:449395 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Respiratory tract infection, Hemolytic anemia, Hepatitis, Lymphopenia, Autoimmune thrombocytopeni... |
ORPHA:444463 |
| Congenital Alpha2-Antiplasmin Deficiency |
|
Hemothorax, Persistent bleeding after trauma, Abnormal umbilical stump bleeding, Abnormal bleedin... |
ORPHA:79 |
| Nephrotic Syndrome, Type 12 |
|
Stage 5 chronic kidney disease, Hematuria, Diffuse mesangial sclerosis, Steroid-resistant nephrot... |
OMIM:616892 |
| Factor V Excess With Spontaneous Thrombosis |
|
Pulmonary embolism |
OMIM:134400 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Penile hypospadias, Centrally nucleated skeletal muscle fibers, Bifid scrotum, Bilateral cryptorc... |
OMIM:300219 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Anemia, Macrothrombocytopenia, Epistaxis, Menorrhagia, Thrombocytopenia |
OMIM:616176 |
| Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Oligospermia, Cryptorchidism |
OMIM:314300 |
| Galactosemia Iii |
|
Vomiting, Hypergalactosemia, Jaundice, Failure to thrive, Hepatomegaly, Splenomegaly |
OMIM:230350 |
| Alg12-Cdg |
|
Patent foramen ovale, Gastroesophageal reflux, B lymphocytopenia, Intrauterine growth retardation... |
ORPHA:79324 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Elevated circulating alanine aminotransferase concentration, Dilated cardiomyopathy, Hepatic stea... |
OMIM:618805 |
| Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Hyperlipoproteinemia, Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Sudden cardiac death, Dilatation of the ventricular cavity, Right ventricular cardiomyopathy, Fib... |
OMIM:609040 |
| Intermediate Nemaline Myopathy |
|
Flexion contracture, Facial palsy, EMG: myopathic abnormalities, Facial diplegia, Nemaline bodies... |
ORPHA:171433 |
| Sitosterolemia 1 |
|
Reduced haptoglobin level, Hypercholesterolemia, Stomatocytosis, Anemia, Giant platelets, Reticul... |
OMIM:210250 |
| Alport Syndrome 3, Autosomal Dominant |
|
Glomerular basement membrane lamellation, Nephrotic syndrome, Stage 5 chronic kidney disease, Azo... |
OMIM:104200 |
| Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Joint contracture, Respiratory distress |
OMIM:617977 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Hypertriglyceridemia, Hyperammonemia, Hyperargininemia, Elevated plasma citrulline |
OMIM:603471 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Hypothyroidism, Bronchiectasis, Generalized lymphadenopathy, Recurrent sinusitis, Chronic diarrhe... |
OMIM:614700 |
| Aicardi-Goutieres Syndrome 3 |
|
Thrombocytopenia, Death in childhood, Hepatosplenomegaly |
OMIM:610329 |
| Meconium Aspiration Syndrome |
|
Pulmonary arterial hypertension, Aspiration pneumonia, Pneumothorax, Pulmonary insufficiency, Hyp... |
ORPHA:70588 |
| Combined Oxidative Phosphorylation Deficiency 23 |
|
Cardiomyopathy, Congestive heart failure, Arrhythmia |
OMIM:616198 |
| Congenital Disorder Of Glycosylation, Type Iir |
|
Jaundice, Elevated hepatic transaminase, Decreased proportion of CD4-positive T cells, Hepatic st... |
OMIM:301045 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Ventricular hypertrophy, Elevated circulating acylcarnitine concentration, Cardiomyopathy, Hepati... |
ORPHA:228305 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Proximal tubulopathy, Vomiting, Renal cortical cysts, Glycosuria, Polycystic kidney dysplasia, Ja... |
OMIM:231680 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Hepatic steatosis, Hypertrophic cardiomyopathy, Bloody diarrhea, Cardiomyopathy |
OMIM:615119 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hyperinsulinemia, Cirrhosis, Hypertension, Hepatic steatosis, Myopathy, Hepatomegaly, Respiratory... |
ORPHA:363400 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Anemia, Decreased circulating total IgM, B lymphocytopenia, Decreased proportion of CD8-positive,... |
OMIM:619824 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Cirrhosis, Cholestatic liver disease, Decreased circulating ceruloplasmin concentration, Hepatosp... |
OMIM:616828 |
| Bernard-Soulier Syndrome |
|
Thrombocytopenia, Giant platelets, Prolonged bleeding time, Macrothrombocytopenia, Impaired risto... |
OMIM:231200 |
| Cardiomyopathy, Dilated, 1Q |
|
Dilated cardiomyopathy |
OMIM:609915 |
| Cardiomyopathy, Dilated, 1H |
|
Dilated cardiomyopathy |
OMIM:604288 |
| Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Respiratory insufficiency, Hypertrophic cardiomyopathy |
OMIM:618228 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Ventricular septal defect, Apnea, Hypertrophic cardiomyopathy, Respiratory failure, Bradycardia |
OMIM:616277 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hypotension, Pericardial effusion, Pleural effusion, Hypertrophic cardiomyopathy, Shortened PR in... |
OMIM:261740 |
| X-Linked Agammaglobulinemia |
|
Anemia, Chronic diarrhea, Weight loss, Hepatitis, Hypocalcemia, Abnormality of the lymphatic syst... |
ORPHA:47 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Gastroesophageal reflux, Decreased serum estradiol, Short stature, Multiple joint contractures, P... |
ORPHA:2959 |
| X-Linked Centronuclear Myopathy |
|
Centrally nucleated skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, ... |
ORPHA:596 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Abnormal mucociliary clearance, Respiratory distress, Bronchiectasis |
OMIM:619466 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased total bilirubin, Leukopenia, Anemia, Reduced natural killer cell activity, Jaundice, Pa... |
OMIM:603553 |
| N-Acetylglutamate Synthase Deficiency |
|
Hyperammonemia, Respiratory distress, Increased level of L-glutamic acid in blood |
OMIM:237310 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Cardiomyopathy, Flexion contracture, Calf muscle hypertrophy, Muscular dystrophy, Congenital musc... |
OMIM:613155 |
| Coenzyme Q10 Deficiency, Primary, 7 |
|
Respiratory insufficiency, Ventricular septal defect, Hypoplastic left heart, Hypertrophic cardio... |
OMIM:616276 |
| Beta-Thalassemia |
|
Splenomegaly, Anemia, Abnormality of iron homeostasis, Hepatitis, Hypertrophic cardiomyopathy, He... |
ORPHA:848 |
| Polycythemia Vera |
|
Increased red blood cell mass, Cerebral hemorrhage, Cerebral ischemia, Increased hematocrit, Thro... |
OMIM:263300 |
| Cardiomyopathy, Dilated, 2B |
|
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular e... |
OMIM:614672 |
| Ovarian Dysgenesis 4 |
|
Elevated circulating follicle stimulating hormone level, Decreased serum estradiol, Primary ameno... |
OMIM:616185 |
| Rhabdoid Tumor |
|
Anemia, Weight loss, Neoplasm of the liver, Hypertension, Internal hemorrhage, Lymphadenopathy, H... |
ORPHA:69077 |
| Acquired Partial Lipodystrophy |
|
Glomerulopathy, Lymphocytosis, Hepatic steatosis, Myopathy, Proteinuria, Microscopic hematuria |
ORPHA:79087 |
| Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Pulmonary insufficiency, Mitral valve prolapse, Left ventricular hypertrophy, Bruising susceptibi... |
ORPHA:230851 |
| Stt3B-Cdg |
|
Intrauterine growth retardation, Respiratory distress, Cryptorchidism, Thrombocytopenia, Small sc... |
ORPHA:370924 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Vomiting, Elevated hepatic transaminase, Dilated cardiomyopathy, Elevated circulating creatine ki... |
OMIM:600649 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Coombs-positive hemolytic anemia, Eosinophilia, Hepatomegaly, Elevated proportion of CD4-negative... |
OMIM:603909 |
| Galloway-Mowat Syndrome 4 |
|
Congenital nephrotic syndrome, Short stature, Nephrotic syndrome, Stage 5 chronic kidney disease,... |
OMIM:617730 |
| Smith-Lemli-Opitz Syndrome |
|
Ambiguous genitalia, Precocious puberty, Eczema, Hepatic steatosis, Hypertrophic cardiomyopathy, ... |
OMIM:270400 |
| Propionic Acidemia |
|
Cerebellar hemorrhage, Anemia, Vomiting, Hyperglycinemia, Short stature, Limb hypertonia, Eczema,... |
OMIM:606054 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Intrauterine growth retardation, Respiratory distress, Cryptorchidism, Thrombocytopenia, Small sc... |
OMIM:615597 |
| Myotonic Dystrophy 1 |
|
Hypogonadism, Respiratory distress, Facial diplegia, Testicular atrophy, Dysphagia, Atrial flutte... |
OMIM:160900 |
| Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
| Chronic Pneumonitis Of Infancy |
|
Intercostal retractions, Hypoxemia, Reduced forced vital capacity, Respiratory distress, Cough, H... |
ORPHA:91359 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypotension, Ventricular hypertrophy, Rhabdomyolysis, Cardiac arrest, Dicarboxylic aciduria, Elev... |
OMIM:212138 |
| Immunodeficiency, Common Variable, 1 |
|
Diarrhea, B lymphocytopenia, Bronchiectasis, Decreased circulating total IgM, Neutropenia in pres... |
OMIM:607594 |
| Congenital Disorder Of Glycosylation, Type Iu |
|
Neonatal respiratory distress, Elevated circulating creatine kinase concentration, Respiratory di... |
OMIM:615042 |
| Omenn Syndrome |
|
Anemia, Hypoplasia of the thymus, Diarrhea, B lymphocytopenia, Failure to thrive, Lymphadenopathy... |
OMIM:603554 |
| Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Bronchiectasis, Hypoxemia, Reduced forced vital capacity, Reduced FEV1/FVC ratio, Decreased force... |
ORPHA:1303 |
| Dilated Cardiomyopathy With Ataxia |
|
Hypothyroidism, 3-Methylglutaconic aciduria, Microvesicular hepatic steatosis, Normochromic micro... |
ORPHA:66634 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Reduced left ventricular ejection fraction, Tachypnea, Left ventricular noncompaction, Aortic reg... |
OMIM:616501 |
| Pulmonary Arteriovenous Malformation |
|
Pulmonary arterial hypertension, Pulmonary hemorrhage, Telangiectasia, Bacterial endocarditis, He... |
ORPHA:2038 |
| Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia, Abnormality of the liver, Hepatomegaly |
ORPHA:1980 |
| 46,Xy Sex Reversal 8 |
|
Ambiguous genitalia, Male pseudohermaphroditism, Sex reversal, Cryptorchidism |
OMIM:614279 |
| Immunodeficiency, Common Variable, 7 |
|
Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Decreased circulating tot... |
OMIM:614699 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Anemia, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardiomyopat... |
OMIM:620135 |
| Complement Factor I Deficiency |
|
Septic arthritis, Recurrent urinary tract infections, Pyelonephritis, Recurrent sinusitis, Recurr... |
OMIM:610984 |
| 19P13.12 Microdeletion Syndrome |
|
Hypothyroidism, Precocious puberty, Ventricular septal defect, Atrial septal defect, Arthrogrypos... |
ORPHA:254346 |
| Alpha-Heavy Chain Disease |
|
Anemia, Premature ovarian insufficiency, Lymphadenopathy, Hepatomegaly, Dysgammaglobulinemia, Asc... |
ORPHA:100025 |
| Fetal Gaucher Disease |
|
Death in infancy, Intracranial hemorrhage, Pancytopenia, Abnormality of the spleen, Hepatomegaly,... |
ORPHA:85212 |
| Tangier Disease |
|
Chronic noninfectious lymphadenopathy, Anemia, Left ventricular hypertrophy, Hepatosplenomegaly, ... |
ORPHA:31150 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Decreased plasma carnitine, Elevated hepatic tr... |
ORPHA:26791 |
| Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Xanthelasma, Hypercholesterolemia |
OMIM:277460 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Failure to thrive, Thrombocytopenia, Hepatomegaly, Elevated circulating creatine kinase concentra... |
OMIM:614727 |
| Triose Phosphate-Isomerase Deficiency |
|
Hypertrophic cardiomyopathy, Skeletal muscle atrophy |
ORPHA:868 |
| Cantu Syndrome |
|
Congenital hypertrophy of left ventricle, Pericardial effusion, Bicuspid aortic valve, Cardiomega... |
OMIM:239850 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Lymphadenitis, Abnormal natural killer cell count, Decreased circulating total IgM, Decreased cir... |
ORPHA:331206 |
| Mucolipidosis Type Ii |
|
Hepatosplenomegaly, Telangiectases of the cheeks, Splenomegaly, Postnatal growth retardation, Pat... |
ORPHA:576 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Cirrhosis, Renal interstitial fibrosis, Enlarged kidney, Jaundice, Hypersplenism, Hepatocellular ... |
OMIM:619902 |
| Alström Syndrome |
|
Elevated hepatic transaminase, Recurrent sinusitis, Myocardial fibrosis, Hepatosplenomegaly, Glom... |
ORPHA:64 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:209902 |
| Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased serum estradiol, Hypo... |
OMIM:614842 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Hydrocele testis, Membranoproliferative glomerulonephritis, Facial telangiectasia in butterfly mi... |
OMIM:137940 |
| Glycerol Kinase Deficiency |
|
Hypertriglyceridemia |
OMIM:307030 |
| T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Hypertriglyceridemia, Increased circulating ferritin concentration |
OMIM:618398 |
| Thrombotic Thrombocytopenic Purpura |
|
Diarrhea, Microangiopathic hemolytic anemia, Decreased serum creatinine, Reticulocytosis, Myocard... |
ORPHA:54057 |
| Leukocyte Adhesion Deficiency |
|
Hemolytic-uremic syndrome, Acute myeloid leukemia, Perianal abscess, Bronchiectasis, Impaired neu... |
ORPHA:2968 |
| Barth Syndrome |
|
Dilated cardiomyopathy, Endocardial fibroelastosis |
ORPHA:111 |
| Galloway-Mowat Syndrome 3 |
|
Short stature, Nephrotic syndrome, Stage 5 chronic kidney disease, Camptodactyly, Hypertension, G... |
OMIM:617729 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
T lymphocytopenia, Recurrent aspiration pneumonia, Diarrhea, Hepatosplenomegaly, Hepatomegaly, Ab... |
ORPHA:79124 |
| Danon Disease |
|
Second degree atrioventricular block, Increased QRS voltage, Generalized amyotrophy, Severely red... |
OMIM:300257 |
| Tularemia |
|
Conjunctivitis, Anemia, Erythema nodosum, Skin rash, Inflammatory abnormality of the eye, Cutaneo... |
ORPHA:3392 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Joint contracture of the hand, Camptodactyly of toe, Elevated circulatin... |
OMIM:300280 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Urinary bla... |
ORPHA:52430 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Recurrent respiratory infections, Weight loss, Intracranial hemorrhage, Lymphadenopathy, Abnormal... |
ORPHA:3226 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3 |
|
Hypertrophic cardiomyopathy |
OMIM:614053 |
| Thrombophilia Due To Protein C Deficiency, Autosomal Recessive |
|
Pulmonary embolism, Vitreous hemorrhage, Purpura |
OMIM:612304 |
| Combined Oxidative Phosphorylation Deficiency 24 |
|
Elevated circulating creatine kinase concentration, Weakness of facial musculature, Myopathy, Ske... |
OMIM:616239 |
| Isolated Agammaglobulinemia |
|
Anemia, Recurrent respiratory infections, Diarrhea, Abnormality of the lymphatic system, Abnormal... |
ORPHA:229717 |
| Snakebite Envenomation |
|
Hypotension, Neuromuscular dysphagia, Vomiting, Diarrhea, Cerebral ischemia, Cardiogenic shock, P... |
ORPHA:449285 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased serum testosterone level, Increased circulating cortisol level, Decreased circulating d... |
OMIM:610489 |
| Transcobalamin Deficiency |
|
Decreased circulating total IgM, Decreased circulating antibody level, Pancytopenia, Lymphopenia,... |
ORPHA:859 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Hypothyroidism, 3-Methylglutaconic aciduria, Pneumothorax, Elevated hepatic transaminase, Renal c... |
ORPHA:445038 |
| Trimethylaminuria |
|
Anemia, Hypertension, Recurrent pneumonia, Tachycardia, Neutropenia, Splenomegaly |
OMIM:602079 |
| Senior-Loken Syndrome 8 |
|
Pancreatic cysts, Hepatic cysts, Stage 5 chronic kidney disease, Intrahepatic bile duct dilatatio... |
OMIM:616307 |
| 46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Hypoplasia of the bladder, Ventricular septal defect, Sex reversal, Adrenal gland agenesis, Renal... |
OMIM:611812 |
| Mirage Syndrome |
|
Leukopenia, Anemia, Gastroesophageal reflux, Decreased body weight, Aspiration pneumonia, Achalas... |
OMIM:617053 |
| Asbestos Intoxication |
|
Cor pulmonale, Exertional dyspnea, Late inspiratory crackles, Hypoxemia, Reduced forced vital cap... |
ORPHA:2302 |
| Babesiosis |
|
Leukopenia, Hemolytic anemia, Jaundice, Recurrent pharyngitis, Congestive heart failure, Myocardi... |
ORPHA:108 |
| Immunodeficiency 76 |
|
Chronic diarrhea, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Recurrent pneumonia, Lymphad... |
OMIM:619164 |
| Thyroid Lymphoma |
|
Hypothyroidism, Hyperthyroidism, Respiratory distress, Hashimoto thyroiditis, Upper airway obstru... |
ORPHA:97285 |
| 46,Xx Gonadal Dysgenesis |
|
Decreased fertility, Ambiguous genitalia, Decreased serum estradiol, Secondary amenorrhea, Premat... |
ORPHA:243 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Restrictive cardiomyopathy, Splenomegaly, Hepatomegaly, Endocardial fibrosis |
OMIM:607685 |
| Hemochromatosis Type 2 |
|
Abnormality of iron homeostasis, Abnormality of endocrine pancreas physiology, Impotence, Hypogon... |
ORPHA:79230 |
| Sengers Syndrome |
|
Respiratory insufficiency, Hypertrophic cardiomyopathy, Myopathy |
OMIM:212350 |
| Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Encephalocele, Short stature, Bifid scrotum, Anencephaly, Penoscrotal transposition, Left ventric... |
OMIM:619148 |
| Congenital Disorder Of Glycosylation, Type Iy |
|
Hypospadias, Respiratory distress |
OMIM:300934 |
| Immunodeficiency, Common Variable, 2 |
|
Diarrhea, Bronchiectasis, Recurrent bronchitis, Recurrent sinusitis, Recurrent pneumonia, Lymphad... |
OMIM:240500 |
| X-Linked Intellectual Disability, Hedera Type |
|
Hypomimic face, Left ventricular hypertrophy |
ORPHA:93952 |
| Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Hypertension, Congestive heart failure, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Dysp... |
ORPHA:1349 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Hypothyroidism, Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, female, Increased circu... |
ORPHA:1772 |
| Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Congestive heart failure, Myocardial fibrosis, Hypertrophic cardiomyopathy,... |
OMIM:617222 |
| Immunodeficiency 22 |
|
Anemia, Diarrhea, Decreased circulating total IgM, Protracted diarrhea, Pericarditis, Failure to ... |
OMIM:615758 |
| Congenital Enterovirus Infection |
|
Hypotension, Cardiomyopathy, Hepatic failure, Leukopenia, Anemia, Neutropenia, Abnormal macrophag... |
ORPHA:292 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Aminoaciduria, Anemia, Exertional dyspnea, Decreased liver function, Glycosuria, Increased hepato... |
OMIM:220110 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Irregular menstruation, Urinary incontinence, Pulmonary arterial hypertension, Gastroesophageal r... |
OMIM:616482 |
| Anaplastic Thyroid Carcinoma |
|
Abnormal skeletal muscle morphology, Nodular goiter, Anaplastic thyroid carcinoma, Respiratory di... |
ORPHA:142 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Hepatic failure, Abnormal serum bile acid concentration, Hyperbilirubinemia, Elevated hepatic tra... |
ORPHA:79303 |
| Forsythe-Wakeling Syndrome |
|
Thrombocytopenia, Decreased body weight |
OMIM:613606 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, B lymphocytopenia, Failure to thrive, Lymphadenopathy, Elevated circulat... |
OMIM:618048 |
| Vici Syndrome |
|
Leukopenia, Penile hypospadias, T lymphocytopenia, Left ventricular hypertrophy, Congestive heart... |
OMIM:242840 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Presyncope, Congestive heart failure, Pre... |
OMIM:604400 |
| Von Willebrand Disease, Type 3 |
|
Prolonged bleeding time, Thrombocytopenia, Impaired platelet aggregation |
OMIM:277480 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Hyperalaninemia, Hyperuricemia, Diarrhea, Vomiting, Episodic tachypnea, Intermittent hyperventila... |
ORPHA:348 |
| Congenital Toxoplasmosis |
|
Anemia, Diarrhea, Ascites, Jaundice, Lymphadenopathy, Hepatomegaly, Cardiomegaly, Thrombocytopeni... |
ORPHA:858 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Flexion contracture, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hypospadias, Cryptorchi... |
OMIM:618815 |
| Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Anemia, Splenomegaly, Erythroid hyperplasia, Hepatomegaly, Thrombocytopen... |
OMIM:133180 |
| Congenital Diaphragmatic Hernia |
|
Congenital diaphragmatic hernia, Hypoxemia, Respiratory distress, Aplasia/Hypoplasia of the diaph... |
ORPHA:2140 |
| Premature Ovarian Failure 14 |
|
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... |
OMIM:618014 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Sudden cardiac death, Effort-induced polymorphic ventricular tachycardia, Syncope, Atrial standst... |
OMIM:604772 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Myofiber disarray, Wolff-Parkinson-White syndrome, Syncope, Congestive heart failure, Asymmetric ... |
OMIM:600858 |
| Brain-Lung-Thyroid Syndrome |
|
Abnormal cardiac septum morphology, Compensated hypothyroidism, Hypoparathyroidism, Vesicouretera... |
ORPHA:209905 |
| Wolfram Syndrome 1 |
|
Hypothyroidism, Diabetes insipidus, Cardiomyopathy, Megaloblastic anemia, Neurogenic bladder, Hyd... |
OMIM:222300 |
| Peroxisome Biogenesis Disorder 9B |
|
Elevated circulating phytanic acid concentration, Cardiomyopathy |
OMIM:614879 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Pulmonary arterial hypertension, Ventricular hypertrophy, Hyperalaninemia, Hypertrophic cardiomyo... |
OMIM:619051 |
| Griscelli Syndrome |
|
Leukopenia, Abnormal circulating lipid concentration, Encephalocele, Decreased circulating antibo... |
ORPHA:381 |
| Bleeding Disorder, Platelet-Type, 12 |
|
Impaired platelet aggregation |
OMIM:605735 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Diarrhea, Elevated h... |
ORPHA:247598 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Splenomegaly, Hemolytic anemia, Recurrent respiratory infections, Increased circulating antibody ... |
OMIM:614470 |
| Temple Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:616222 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Impaired epinephrine-induced platelet aggregation, Macrothrombocytopenia, Prolonged bleeding time... |
OMIM:187900 |
| Citrullinemia Type Ii |
|
Hepatic fibrosis, Vomiting, Diarrhea, Hepatocellular carcinoma, Acute hyperammonemia, Elevated he... |
ORPHA:247585 |
| Thrombophilia Due To Protein S Deficiency, Autosomal Dominant |
|
Pulmonary embolism, Purpura |
OMIM:612336 |
| Felty Syndrome |
|
Anemia, Recurrent respiratory infections, Weight loss, Pleuritis, Recurrent pharyngitis, Pericard... |
ORPHA:47612 |
| Sarcosinemia |
|
Hypertrophic cardiomyopathy, Peroneal muscle weakness, Hypersarcosinemia, Pulmonic stenosis |
ORPHA:3129 |
| Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Renal duplication, Flexion contracture, Vomiting, Aplasia of the bladder, Renal dysplasia, Muscul... |
ORPHA:158684 |
| Lujo Hemorrhagic Fever |
|
Hypotension, Diarrhea, Elevated hepatic transaminase, Shock, Crackles, Oliguria, Dysphagia, Throm... |
ORPHA:319213 |
| Cardiomyopathy, Dilated, 1O |
|
Impaired myocardial contractility, Ventricular tachycardia, Congestive heart failure, Dilated car... |
OMIM:608569 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Chronic neutropenia, Thrombocytopenia, Anemia, Death in infancy |
OMIM:619302 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Sudden cardiac death, Cerebellar hemorrhage, Elevated circulating acylcarnitine concentration, De... |
ORPHA:99901 |
| Developmental And Epileptic Encephalopathy 35 |
|
Cardiomyopathy |
OMIM:616647 |
| Emery-Dreifuss Muscular Dystrophy |
|
Sudden cardiac death, Supraventricular arrhythmia, Elbow flexion contracture, Elevated circulatin... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Sudden cardiac death, Supraventricular arrhythmia, Elbow flexion contracture, Elevated circulatin... |
ORPHA:98853 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Coronary artery stenosis, Angina pectoris, Elevated circulating creatine kinase concentration, Ab... |
ORPHA:565612 |
| Müllerian Aplasia And Hyperandrogenism |
|
Increased serum testosterone level, Abnormality of the ovary, Hypoplasia of the uterus, Primary a... |
ORPHA:247768 |
| Acute Interstitial Pneumonia |
|
Reduced hematocrit, Nodular pattern on pulmonary HRCT, Bronchiectasis, Subpleural honeycombing, P... |
ORPHA:79126 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Glomerulopathy, Hypothyroidism, Elevated hepatic transaminase, Hepatic steatosis, Multicystic kid... |
ORPHA:93111 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperuricemia, Hyperlipidemia |
ORPHA:364 |
| Hepatoportal Sclerosis |
|
Nodular regenerative hyperplasia of liver, Leukopenia, Abnormal liver parenchyma morphology, Anem... |
ORPHA:64743 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Increased variability in muscle fiber diameter, Reduced left ventricular ejection fraction, Conge... |
OMIM:614096 |
| Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant |
|
Organic aciduria, Hypertrophic cardiomyopathy, Neonatal death, Respiratory insufficiency due to m... |
OMIM:617184 |
| Ciliary Dyskinesia, Primary, 29 |
|
Infertility, Recurrent respiratory infections, Atelectasis, Bronchiectasis |
OMIM:615872 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Systolic heart murmur, Supraventricular arrhythmia, Breathing dysregulation, Abnormal left ventri... |
ORPHA:99103 |
| Bronchial Neuroendocrine Tumor |
|
Hypotension, Facial telangiectasia, Cardiogenic shock, Palpitations, Hepatomegaly, Pneumonia, Non... |
ORPHA:97287 |
| Eosinophilia, Familial |
|
Anemia, Recurrent bronchitis, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
| Hemoglobin D Disease |
|
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... |
ORPHA:90039 |
| Alagille Syndrome 1 |
|
Renal dysplasia, Hepatocellular carcinoma, Elevated hepatic transaminase, Hypercholesterolemia, P... |
OMIM:118450 |
| Macrophage Activation Syndrome |
|
Abnormal natural killer cell count, Anemia, Neutropenia, Hepatitis, Lymphadenopathy, Increased ci... |
ORPHA:158061 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Decreased testicular size, Decreased serum zinc, Hypogonadism, Decreased serum testosterone conce... |
OMIM:201100 |
| Alg1-Cdg |
|
Decreased liver function, Nephrotic syndrome, Abnormality of the kidney, Abnormal heart morpholog... |
ORPHA:79327 |
| Hypoalphalipoproteinemia, Primary, 1 |
|
Decreased HDL cholesterol concentration |
OMIM:604091 |
| Specific Granule Deficiency 2 |
|
Anemia, Death in infancy, Absent neutrophil specific granules, Intractable diarrhea, Failure to t... |
OMIM:617475 |
| Combined Oxidative Phosphorylation Deficiency 38 |
|
Respiratory insufficiency, Wolff-Parkinson-White syndrome, Hyperalaninemia, Hypertrophic cardiomy... |
OMIM:618378 |
| Congenital Disorder Of Glycosylation, Type Ie |
|
Knee flexion contracture, Telangiectasia, Muscular dystrophy, Camptodactyly, Respiratory distress... |
OMIM:608799 |
| Cardiomyopathy, Dilated, 1G |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Pre... |
OMIM:604145 |
| Aggressive Systemic Mastocytosis |
|
Hypotension, Anemia, Diarrhea, Weight loss, Hypersplenism, Pancytopenia, Hepatosplenomegaly, Lymp... |
ORPHA:98850 |
| Polymyositis |
|
Respiratory insufficiency, Abnormal atrioventricular conduction, Exertional dyspnea, Abnormal mit... |
ORPHA:732 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Bronchiectasis, Interstitial pneumoni... |
OMIM:610913 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Cardiomyopathy, Hyperuricemia, Hypertension, Arrhythmia |
ORPHA:3222 |
| Transaldolase Deficiency |
|
Cirrhosis, Anemia, Telangiectasia, Hepatosplenomegaly, Increased serum bile acid concentration, A... |
ORPHA:101028 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Axial muscle stiffness, Respiratory distress |
ORPHA:240085 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Tubulointerstitial nephritis, Cardiomyopathy, Elevated circulating acylcarnitine concentration, H... |
ORPHA:157 |
| Lethal Recessive Chondrodysplasia |
|
Respiratory distress, Macroglossia |
ORPHA:1423 |
| Hermansky-Pudlak Syndrome 3 |
|
Impaired platelet aggregation, Abnormal number of dense granules |
OMIM:614072 |
| Familial Nasal Acilia |
|
Bronchiectasis, Respiratory distress, Chronic sinusitis, Chronic rhinitis, Dyspnea |
ORPHA:922 |
| Cholestasis-Lymphedema Syndrome |
|
Cirrhosis, Jaundice, Neonatal cholestatic liver disease, Hyperlipidemia, Hepatomegaly, Splenomega... |
OMIM:214900 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Pulmonary arterial hypertension, Gastroesophageal reflux, Methylmalonic acidemia, Hyperhomocystin... |
OMIM:614857 |
| Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Fatty replacement of skeletal muscle, Weakness of the intrinsic hand muscles, EMG: myopathic abno... |
ORPHA:329478 |
| Noonan Syndrome 10 |
|
Ventricular septal defect, Short stature, Mitral stenosis, Mitral valve prolapse, Left ventricula... |
OMIM:616564 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Foot joint contracture, IgA deposition in the glomerulus, Flexion contracture, Urethral stricture... |
ORPHA:79408 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hyperinsulinemia, Increased C-peptide level, Decreased circulating free fatty acid level, Syncope... |
ORPHA:276575 |
| Hydrolethalus Syndrome 1 |
|
Ventricular septal defect, Arrhinencephaly, Anencephaly, Agenesis of the diaphragm, Abnormal vagi... |
OMIM:236680 |
| Ane Syndrome |
|
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Abnormal re... |
ORPHA:157954 |
| Cardiomyopathy, Dilated, 1E |
|
Supraventricular tachycardia, Right bundle branch block, Reduced left ventricular ejection fracti... |
OMIM:601154 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia, Death in infancy |
OMIM:619301 |
| Wolman Disease |
|
Anemia, Adrenal insufficiency, Cachexia, Steatorrhea, Bone-marrow foam cells, Hepatomegaly, Ascit... |
ORPHA:75233 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Ventricular septal defect, Asthma, Hypoxemia, Respiratory distress, Atrial septal defect, Oxygen ... |
OMIM:610978 |
| Hyperlipoproteinemia, Type V |
|
Decreased HDL cholesterol concentration, Increased circulating chylomicron concentration, Decreas... |
OMIM:144650 |
| Alg6-Cdg |
|
Increased circulating androgen concentration, Decreased LDL cholesterol concentration, Hypoalbumi... |
ORPHA:79320 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated hepatic transaminase, Hepatic steatosis, Bleeding with minor or no trauma, Hepatomegaly,... |
OMIM:619525 |
| Truncus Arteriosus |
|
Hypoplasia of the thymus, Truncus arteriosus, Ventricular septal defect, Transposition of the gre... |
ORPHA:3384 |
| Folate Malabsorption, Hereditary |
|
Leukopenia, Diarrhea, Failure to thrive, Thrombocytopenia, Neutropenia, Folate-responsive megalob... |
OMIM:229050 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Anemia, Neutropenia, Reduced natural killer cell activity, Decreased circulating antibody level, ... |
ORPHA:540 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Gastroesophageal reflux, Cirrhosis, Hyperalaninemia, Decreased muscle mass, Anemia, Diarrhea, Dys... |
ORPHA:298 |
| Aicardi-Goutieres Syndrome 4 |
|
Pancytopenia, Hepatosplenomegaly, Hepatomegaly, Thrombocytopenia, Death in childhood, Splenomegaly |
OMIM:610333 |
| Refractory Anemia |
|
Abnormal cardiac ventricular function, Neutropenia, Normocytic anemia, Erythroid hypoplasia, Bone... |
ORPHA:98826 |
| Immunodeficiency 60 And Autoimmunity |
|
Crohn's disease, Chronic diarrhea, Decreased circulating total IgM, Bronchiectasis, Recurrent sin... |
OMIM:618394 |
| Hyperbilirubinemia, Shunt, Primary |
|
Jaundice, Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis, Hepatomegaly, Anemia of ina... |
OMIM:237800 |
| Estrogen Resistance |
|
Increased serum estradiol, Hyperinsulinemia, Breast aplasia, Delayed puberty, Polycystic ovaries,... |
OMIM:615363 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin |
ORPHA:3319 |
| Laing Early-Onset Distal Myopathy |
|
Toe extensor amyotrophy, Weakness of orbicularis oculi muscle, Abnormal mitochondria in muscle ti... |
ORPHA:59135 |
| Pyruvate Dehydrogenase E3 Deficiency |
|
Hyperisoleucinemia, Hepatic failure, Vomiting, Abnormal cardiac ventricular function, Increased u... |
ORPHA:2394 |
| Megabladder, Congenital |
|
Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, Atrial septal defect, Ventr... |
OMIM:618719 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Hyperinsulinemia, Type II diabetes mellitus, Labial pseudohypertrophy, Hypertension, Increased in... |
OMIM:151660 |
| Weiss-Kruszka Syndrome |
|
Dextrotransposition of the great arteries, Bicuspid aortic valve, Left ventricular hypertrophy, V... |
OMIM:618619 |
| Multiple Carboxylase Deficiency |
|
Hyperammonemia, Limb muscle weakness, Respiratory distress, Tachypnea |
ORPHA:148 |
| Myopathy, Centronuclear, 5 |
|
Respiratory insufficiency, Abnormal circulating creatine kinase concentration, Hip contracture, C... |
OMIM:615959 |
| Liver Disease, Severe Congenital |
|
Subvalvular aortic stenosis, Aminoaciduria, Systolic heart murmur, Diarrhea, Exocrine pancreatic ... |
OMIM:619991 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Nocturnal hypoventilation, Calf muscle hypertrophy, Congenital muscular dystrophy, Achilles tendo... |
OMIM:607155 |
| Wiskott-Aldrich Syndrome 2 |
|
Defective T cell proliferation, Thrombocytopenia, Decreased proportion of CD8-positive T cells, R... |
OMIM:614493 |
| Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Rhabdomyolysis, Exertional dyspnea, Acute kidney injury, Exercise-induced myoglobinuria, Highly e... |
ORPHA:368 |
| Amyloidosis, Finnish Type |
|
Cardiac amyloidosis, Cardiomyopathy |
OMIM:105120 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Hyperalaninemia, Vomiting, Diarrhea, Cerebral ischemia, Acute hyperammonemia, Respiratory distres... |
ORPHA:927 |
| Takayasu Arteritis |
|
Pulmonary arterial hypertension, Cerebral ischemia, Abnormal aortic valve morphology, Hypertensio... |
ORPHA:3287 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Aminoaciduria, Proximal tubulopathy, Vomiting, Diarrhea, Respiratory distress |
OMIM:612075 |
| Dysbetalipoproteinemia |
|
Renal steatosis, Hypothyroidism, Tendon xanthomatosis, Angina pectoris, Gout, Diabetes mellitus, ... |
ORPHA:412 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Anemia, Increased circulating antibody level, Lymphopenia, Failure to thrive, Lymphadenopathy, He... |
OMIM:617591 |
| Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Decreased testicular size, Type I diabetes mellitus, Breast aplasia, Elevated circulating luteini... |
ORPHA:3044 |
| Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Pelvic girdle muscle wea... |
ORPHA:119 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Cirrhosis, Death in infancy, Pancytopenia, Elevated circulating creatine kinase concentration, Fa... |
OMIM:614576 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Hypereosinophilia, Weight loss, Increased circulating IgE level, Pleural effusion, Elevated circu... |
ORPHA:2902 |
| Aromatase Deficiency |
|
Primary amenorrhea, Enlarged polycystic ovaries, Ambiguous genitalia, female, Type II diabetes me... |
ORPHA:91 |
| Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Patent foramen ovale, Gastroesophageal reflux, Anterior pituitary hypoplasia, Abnormal cardiac ve... |
ORPHA:466791 |
| Relapsing Fever |
|
Increased total bilirubin, Leukopenia, Anemia, Hypotension, Vomiting, Diarrhea, Jaundice, Neutrop... |
ORPHA:91547 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Atrophic gastritis, Bronchiectasis, Decreased circulating antibody level, Recurrent sinusitis, Re... |
OMIM:616576 |
| Lead Poisoning |
|
Decreased female libido, Infertility, Decreased circulating osteocalcin level, Abnormality of the... |
ORPHA:330015 |
| Congenital Tracheomalacia |
|
Respiratory insufficiency, Pneumothorax, Bronchiectasis, Productive cough, Pneumonia, Wheezing, V... |
ORPHA:95430 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Diarrhea, Unconjugated hyperbilirubinemia, Reticulocytosis, Hepatosplenomegaly, Hepatomegaly, Dec... |
OMIM:618278 |
| Seckel Syndrome 10 |
|
Ventricular hypertrophy, Elevated circulating alanine aminotransferase concentration, Glycosuria,... |
OMIM:617253 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Anemia, Congenital hemolytic anemia, Splenomegaly, Unconjugated hyperbilirubinemia, Elevated tran... |
ORPHA:766 |
| Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Apnea, Hypertrophic cardiomyopathy, Skeletal muscle atrophy |
OMIM:616896 |
| Roifman Syndrome |
|
Hip contracture, Short stature, Eczema, Recurrent otitis media, Noncompaction cardiomyopathy, Hep... |
ORPHA:353298 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Increased circulating inosine concentration, Neutropenia in presence of anti-neutropil antibodies... |
OMIM:613179 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Pulmonary arterial hypertension, Ventricular septal defect, Supernumerary nipple, Atrial septal d... |
ORPHA:2519 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Decreased CD4:CD8 ratio, Diarrhea, Failure to thrive, Lymphadenopathy, Autoimmune hemolytic anemi... |
OMIM:618495 |
| Oculopharyngodistal Myopathy 1 |
|
Increased variability in muscle fiber diameter, Paroxysmal atrial fibrillation, Aspiration, Facia... |
OMIM:164310 |
| Neutral Lipid Storage Myopathy |
|
Very long chain fatty acid accumulation, Pineal cyst, Elevated hepatic transaminase, Hepatic stea... |
ORPHA:98908 |
| Bleeding Disorder, Platelet-Type, 20 |
|
Epistaxis, Thrombocytopenia, Menorrhagia |
OMIM:616913 |
| Von Willebrand Disease, Type 2 |
|
Epistaxis, Thrombocytopenia, Menorrhagia |
OMIM:613554 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis, Epistaxis, Increased RBC distribution width, Thr... |
OMIM:314050 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Patent foramen ovale, Hypertriglyceridemia, Flexion contracture, Short stature, Left ventricular ... |
OMIM:619127 |
| Moebius Syndrome |
|
Congenital fibrosis of extraocular muscles, Decreased testicular size, Camptodactyly, Respiratory... |
OMIM:157900 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Hypertrophic cardiomyopathy, Myopathy, ... |
OMIM:618234 |
| Progressive Familial Intrahepatic Cholestasis |
|
Abnormality of thrombocytes, Jaundice, Failure to thrive, Cholestasis, Hepatomegaly, Hypocalcemia... |
ORPHA:172 |
| Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Decreased serum estradiol, Decreased testicular size, Hypergonadotropic hypogonadism, Primary ame... |
OMIM:604168 |
| Cholestasis-Lymphedema Syndrome |
|
Cirrhosis, Jaundice, Acholic stools, Biliary tract abnormality, Neonatal cholestatic liver diseas... |
ORPHA:1414 |
| Duchenne And Becker Muscular Dystrophy |
|
Hypertrophic cardiomyopathy, Myopathy, Skeletal muscle atrophy, Elevated circulating creatine kin... |
ORPHA:262 |
| Acute Myelomonocytic Leukemia |
|
Anemia, Weight loss, Leukocytosis, Eosinophilia, Thrombocytopenia |
ORPHA:517 |
| Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Upper airway obstruction, Respiratory distress, Abnormal capillary physiology |
ORPHA:100057 |
| Colchicine Poisoning |
|
Hypotension, Vomiting, Hypovolemia, Diarrhea, Cardiogenic shock, Hypophosphatemia, Hypokalemia, H... |
ORPHA:31824 |
| Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Thrombocytopenia, Splenomegaly, Hepatomegaly |
OMIM:615010 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Primary testicular failure, Hypogonadism, Abnormal testis morphology, Oligospermia, Male infertil... |
ORPHA:85450 |
| Patent Ductus Venosus |
|
Hypergalactosemia, Hepatic steatosis, Hyperammonemia, Persistent patent ductus venosus, Decreased... |
OMIM:601466 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Sudden cardiac death, Supraventricular arrhythmia, Elbow flexion contracture, Elevated circulatin... |
ORPHA:98863 |
| Crimean-Congo Hemorrhagic Fever |
|
Hypotension, Diarrhea, Hemoperitoneum, Adrenal insufficiency, Pericardial effusion, Elevated circ... |
ORPHA:99827 |
| Pearson Syndrome |
|
Hypothyroidism, Adrenal insufficiency, Elevated hepatic transaminase, Reticulocytosis, Lacticacid... |
ORPHA:699 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperlipidemia |
ORPHA:329249 |
| Infant Acute Respiratory Distress Syndrome |
|
Hypotension, Cardiac arrest, Nasal flaring, Hypoxemia, Respiratory failure, Pneumonia, Bradycardi... |
ORPHA:70587 |
| Immunodeficiency 23 |
|
Hemolytic anemia, Bronchiectasis, Allergic rhinitis, Asthma, Eczema, Chronic mucocutaneous candid... |
OMIM:615816 |
| Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:182290 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Respiratory insufficiency, Leukopenia, Anemia, Hyperammonemia, Thrombocytopenia, Hepatomegaly, Ma... |
ORPHA:27 |
| Perrault Syndrome 4 |
|
Decreased serum estradiol, Secondary amenorrhea, Premature ovarian insufficiency, Bicornuate uter... |
OMIM:615300 |
| Primary Ciliary Dyskinesia |
|
Asplenia, Respiratory tract infection, Abnormal sperm motility, Bronchiectasis, Polysplenia, Peri... |
ORPHA:244 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Vomiting, Diarrhea, Skin rash, Left ventricular hypertrophy, Dilated cardiomyopathy, Pancytopenia... |
OMIM:618321 |
| Congenital Analbuminemia |
|
Low pulse pressure, Small for gestational age, Increased circulating antibody level, Increased al... |
ORPHA:86816 |
| Gaucher Disease, Type I |
|
Pulmonary arterial hypertension, Anemia, Abnormal pulmonary interstitial morphology, Hypersplenis... |
OMIM:230800 |
| Acquired Methemoglobinemia |
|
Syncope, Hypoxemia, Respiratory distress, Dyspnea, Palpitations, Arrhythmia, Tachycardia |
ORPHA:464453 |
| Aarskog-Scott Syndrome |
|
Shawl scrotum, Bilateral cryptorchidism, Testicular atrophy, Delayed puberty, Elevated circulatin... |
OMIM:305400 |
| Mucopolysaccharidosis, Type X |
|
Dermatan sulfate excretion in urine, Thickened aortic valve cusp, Left ventricular hypertrophy, A... |
OMIM:619698 |
| Leigh Syndrome With Cardiomyopathy |
|
Anemia, Renal tubular acidosis, Decreased liver function, Renal dysplasia, Abnormal renal tubule ... |
ORPHA:70474 |
| Cardiogenic Shock |
|
Hypotension, Impaired myocardial contractility, Abnormal EKG, Elevated jugular venous pressure, C... |
ORPHA:97292 |
| Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Pulmonary embolism, Purpura, Cerebral hemorrhage |
OMIM:614514 |
| Nipah Virus Disease |
|
Hypotension, Cough, Respiratory distress |
ORPHA:99825 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Recurrent aphthous stomatitis, Diarrhea, B lymphocytopenia, Bronchiectasis, Recurrent pneumonia, ... |
OMIM:150550 |
| Infantile Sialic Acid Storage Disease |
|
Vacuolated lymphocytes, Congestive heart failure, Failure to thrive, Hepatomegaly, Cardiomegaly, ... |
OMIM:269920 |
| Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Flexion contracture, Hypertrophic cardiomyopathy, Myopathy, Neonatal death, Intrauterine growth r... |
OMIM:618237 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Nephrotic syndrome, Renal dysplasia, Unilateral renal dysplasia, Hematuria, Distal renal tubular ... |
OMIM:146255 |
| Nephronophthisis 16 |
|
Periportal fibrosis, Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia... |
OMIM:615382 |
| Dent Disease |
|
Renal tubular atrophy, Aminoaciduria, Non-acidotic proximal tubulopathy, Proximal tubulopathy, Re... |
ORPHA:1652 |
| Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Intraalveolar phospholipid accumulation, Death in infancy, Decreased circulating antibody level, ... |
OMIM:618042 |
| Hsd10 Disease, Neonatal Type |
|
Hypertrophic cardiomyopathy |
ORPHA:391457 |
| Hypoglossia With Situs Inversus |
|
Situs inversus totalis, Upper airway obstruction, Respiratory distress |
OMIM:612776 |
| Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Abnormal atrioventricular conduction, Weakness of facial musculature, Skeletal muscle atrophy, Li... |
ORPHA:329336 |
| Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Very long chain fatty acid accumulation, Diffuse hepatic steatosis, Elevated hepatic transaminase... |
OMIM:264470 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Glomerulopathy, Nephrotic syndrome, Pleural effusion, Nephropathy, Thrombocytopenia, Proteinuria,... |
OMIM:254900 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Pulmonary arterial hypertension, Systolic heart murmur, Exertional dyspnea, Unroofed coronary sin... |
ORPHA:99104 |
| Autoimmune Lymphoproliferative Syndrome |
|
Chronic noninfectious lymphadenopathy, Coombs-positive hemolytic anemia, Neutropenia in presence ... |
OMIM:601859 |
| Isolated Right Ventricular Hypoplasia |
|
Bidirectional shunt, Systolic heart murmur, Right bundle branch block, Abnormal atrioventricular ... |
ORPHA:439 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Patent foramen ovale, Gastroesophageal reflux, Ventricular septal defect, Pineal cyst, Left ventr... |
OMIM:300967 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hyperinsulinemia, Increased C-peptide level, Maternal diabetes, Syncope, Type I diabetes mellitus... |
ORPHA:276580 |
| Sepsis In Premature Infants |
|
Hypotension, Diarrhea, Oliguria, Hepatomegaly, Decreased liver function, Thrombocytopenia, Spleno... |
ORPHA:90051 |
| X-Linked Intellectual Disability, Snyder Type |
|
Testicular atrophy, Hypospadias, Abnormality of the Leydig cells, Cryptorchidism |
ORPHA:3063 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Thrombocytopenia, Decreased platelet glycoprotein Ib, Macrothrombocytopenia |
OMIM:603585 |
| Sea-Blue Histiocyte Disease |
|
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly, Cirrhosis |
OMIM:269600 |
| Familial Cutaneous Collagenoma |
|
Congestive heart failure, Angina pectoris, Atrial septal defect, Cardiomyopathy |
ORPHA:53296 |
| Immunodeficiency 81 |
|
Impaired neutrophil chemotaxis, Impaired collagen-induced platelet aggregation, Reduced antigen-s... |
OMIM:619374 |
| Auriculocondylar Syndrome 2 |
|
Apnea, Snoring, Respiratory distress |
OMIM:614669 |
| Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Absent vas deferens, Male infertility, Azoospermia |
OMIM:300985 |
| Vas Deferens, Congenital Bilateral Aplasia Of |
|
Absent vas deferens, Male infertility, Azoospermia |
OMIM:277180 |
| Bardet-Biedl Syndrome 2 |
|
Bicuspid aortic valve, Hypogonadism, Dilated cardiomyopathy, Atrial septal defect |
OMIM:615981 |
| Coccidioidomycosis |
|
Exudative pleural effusion, Abnormality of the bladder, Pericarditis, Panniculitis, Eosinophilia,... |
ORPHA:228123 |
| Amegakaryocytic Thrombocytopenia, Congenital |
|
Amegakaryocytic thrombocytopenia, Thrombocytopenia, Pancytopenia |
OMIM:604498 |
| Chronic Thromboembolic Pulmonary Hypertension |
|
Pulmonary arterial hypertension, Pulmonary embolism, Hypocapnia, Right bundle branch block, Abnor... |
ORPHA:70591 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Limb-girdle muscle weakness, Diarrhea, Hepatocellular carcinoma, Elevated hepatic transaminase, E... |
ORPHA:79240 |
| Moyamoya Disease 6 With Or Without Achalasia |
|
Achalasia, Ischemic stroke, Impotence, Raynaud phenomenon, Hypertension, Dysphagia, Thrombocytopenia |
OMIM:615750 |
| Idiopathic Hypereosinophilic Syndrome |
|
Supraventricular arrhythmia, Elevated hepatic transaminase, Eczema, Generalized lymphadenopathy, ... |
ORPHA:3260 |
| Aicardi-Goutieres Syndrome 7 |
|
Hypothyroidism, Bloody diarrhea, Diarrhea, Pericardial effusion, Generalized lymphadenopathy, Hep... |
OMIM:615846 |
| Interstitial Lung And Liver Disease |
|
Respiratory insufficiency, Aminoaciduria, Hypothyroidism, Hepatic fibrosis, Elevated circulating ... |
OMIM:615486 |
| Fatty Liver Disease, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
| Fatty Liver Disease, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Ventricular ar... |
OMIM:610193 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal tubular acidosis, Decreased liver function, Renal dysplasia, Renal cyst, Hepatic steatosis,... |
OMIM:614922 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
|
Sudden cardiac death, Premature ventricular contraction, Right ventricular cardiomyopathy |
OMIM:604401 |
| Diethylstilbestrol Syndrome |
|
Decreased fertility in females, Central apnea, Abnormal testis morphology, Premature ovarian insu... |
ORPHA:1916 |
| Scimitar Syndrome |
|
Pneumothorax, Truncus arteriosus, Hypoplasia of the diaphragm, Heart block, Abnormal hemidiaphrag... |
ORPHA:185 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Vesicoureteral reflux, Renal dysplasia, Polycystic kidney dysplasia, Hypocalcemia, Unilateral ren... |
ORPHA:2237 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Impaired collagen-related peptide-induced platelet aggregation, Impaired ADP-induced platelet agg... |
OMIM:153670 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Increased variability in muscle fiber diameter, Hyperinsulinemia, Flexion contracture, Splenomega... |
OMIM:613327 |
| Glycogen Storage Disease Ixc |
|
Hypertriglyceridemia |
OMIM:613027 |
| Dengue Fever |
|
Hypotension, Leukopenia, Diarrhea, Cerebral hemorrhage, Epistaxis, Hypoproteinemia, Hepatomegaly,... |
ORPHA:99828 |
| Fowler Urethral Sphincter Dysfunction Syndrome |
|
Urinary incontinence, Urinary retention, Dysuria, Abnormality of the ovary, Polycystic ovaries, M... |
ORPHA:2795 |
| Mevalonic Aciduria |
|
Anemia, Vomiting, Diarrhea, Increased circulating IgD level, Hepatosplenomegaly, Elevated circula... |
OMIM:610377 |
| Diffuse Alveolar Hemorrhage |
|
Anemia, Weight loss, Irregular septal thickening on pulmonary HRCT, Leukocytosis, Pulmonary venou... |
ORPHA:90060 |
| Nail-Patella Syndrome |
|
Biceps aplasia, Short stature, Nephrotic syndrome, Spina bifida, Quadriceps aplasia, Hematuria, T... |
OMIM:161200 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Aminoaciduria, Anemia, Vomiting, Exertional dyspnea, Decreased liver function, Glycosuria, Hyperp... |
ORPHA:436271 |
| Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Right bundle branch block, Elevated circulating creatine kinase concentration, Pulmonary fibrosis... |
ORPHA:254361 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Increased variability in muscle fiber diameter, Elevated circulating alanine aminotransferase con... |
OMIM:615595 |
| Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Hepatic fibrosis, Hepatic failure, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatic ste... |
ORPHA:541423 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Respiratory insufficiency, Glomerulopathy, Myositis, Hypertrophic cardiomyopathy, Intestinal obst... |
ORPHA:183 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Hypogonadism, Premature ovarian insufficiency, EMG: myopathic abnormalities, Ragged-red muscle fi... |
OMIM:609286 |
| Overlap Myositis |
|
Pulmonary arterial hypertension, Leukopenia, Abnormal circulating lipid concentration, Abnormal p... |
ORPHA:206572 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
T lymphocytopenia, Bronchiectasis, Recurrent bronchopulmonary infections, Lymphopenia, Hepatosple... |
OMIM:242700 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Increased C-peptide level, Decreased circulating free fatty acid level, Syncope, Hyperinsulinemic... |
ORPHA:276556 |
| Beta-Thalassemia Intermedia |
|
Hypothyroidism, Abnormality of iron homeostasis, Adrenal insufficiency, Hepatocellular carcinoma,... |
ORPHA:231222 |
| Mercury Poisoning |
|
Hypotension, Interstitial pneumonitis, Hypokalemia, Respiratory distress, Hypertension, Dyspnea, ... |
ORPHA:330021 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated hepatic transaminase, Eczema, Elevated circulating creatine kinase concentration, Hepato... |
OMIM:615895 |
| Diaphanospondylodysostosis |
|
Myelomeningocele, Multiple renal cysts, Respiratory distress |
ORPHA:66637 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Failure to thrive, Thrombocytopenia, Cardiomyopathy |
ORPHA:67048 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Crohn's disease, Diarrhea, Bronchiectasis, Decreased circulating total IgM, D... |
OMIM:616100 |
| Neurofibromatosis-Noonan Syndrome |
|
Dysphagia, Short stature, Hypertrophic cardiomyopathy, Cryptorchidism, Prolonged bleeding time, P... |
ORPHA:638 |
| Pediatric-Onset Graves Disease |
|
Diarrhea, Sinus tachycardia, Neutropenia in presence of anti-neutropil antibodies, Increased circ... |
ORPHA:525731 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Patent foramen ovale, Respiratory distress, Atrial septal defect, Dysphagia, Hypoplastic spleen, ... |
ORPHA:89844 |
| Q Fever |
|
Pericardial effusion, Elevated hepatic transaminase, Hepatosplenomegaly, Pericarditis, Pleural ef... |
ORPHA:781 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Hyperalaninemia, Pericardial effusion, Pleural effusion, Hypertrophic cardiomyopathy, Hyperammone... |
OMIM:614702 |
| Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Leukopenia, Anemia, Failure to thrive, Bone marrow hypocellularity, Throm... |
OMIM:619151 |
| Fetal Parvovirus Syndrome |
|
Ascites, Anemia, Thrombocytopenia, Hypertrophic cardiomyopathy |
ORPHA:295 |
| Bone Marrow Failure Syndrome 4 |
|
Leukopenia, Anemia, Decreased circulating antibody level, Bone marrow hypocellularity, Thrombocyt... |
OMIM:618116 |
| Wilson Disease |
|
Cirrhosis, Anemia, Proximal muscle weakness in lower limbs, Hepatitis, Arthritis, Jaundice, Abnor... |
ORPHA:905 |
| Eisenmenger Syndrome |
|
Atrioventricular canal defect, Aortopulmonary window, Ventricular arrhythmia, Supraventricular ar... |
ORPHA:97214 |
| Cardiomyopathy, Familial Restrictive, 3 |
|
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Myocardial s... |
OMIM:612422 |
| Combined Oxidative Phosphorylation Deficiency 17 |
|
Hypertrophic cardiomyopathy, Congestive heart failure |
OMIM:615440 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Supernumerary nipple, Hepatoblastoma, Duplication of renal pelvis, Hepatomegaly, Splenomegaly, Ne... |
OMIM:312870 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Hemolytic-uremic syndrome, Glomerulopathy, Hyperhomocystinemia, Subdural hemorrhage, Thrombocytop... |
ORPHA:79282 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Lymphocytic interstitial pneumonia |
OMIM:245590 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Pancytopenia, Cutaneous anergy, Decreased helper T cell proportion, Splenomegaly |
OMIM:183350 |
| Wolfram Syndrome |
|
Respiratory insufficiency, Diabetes insipidus, Anemia, Hypogonadism, Recurrent urinary tract infe... |
ORPHA:3463 |
| Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Sudden cardiac death, Torsade de pointes, Polymorphic and polytopic ventricular extrasystoles, Le... |
OMIM:115000 |
| Combined Oxidative Phosphorylation Deficiency 42 |
|
Anemia, Decreased circulating cortisol level, Elevated circulating creatine kinase concentration,... |
OMIM:618839 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatic failure, Vomiting, Periportal fibrosis, Hepatocellular necrosis, Depletion of mitochondri... |
OMIM:251880 |
| Gaucher Disease, Type Iii |
|
Decreased body weight, Pancytopenia, Hepatomegaly, Thrombocytopenia, Splenomegaly |
OMIM:231000 |
| Combined Oxidative Phosphorylation Deficiency 21 |
|
Hyperalaninemia, Limb hypertonia, Hepatic steatosis, Hyperprolinemia, Neonatal death |
OMIM:615918 |
| Primary Myelofibrosis |
|
Anemia, Cachexia, Extramedullary hematopoiesis, Pancytopenia, Hepatosplenomegaly, Poikilocytosis,... |
ORPHA:824 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Respiratory insufficiency, Hypotension, Elevated circulating acylcarnitine concentration, Rhabdom... |
ORPHA:159 |
| Cardiomyopathy, Dilated, 1S |
|
Pulmonary arterial hypertension, Sudden cardiac death, Interstitial cardiac fibrosis, Reduced lef... |
OMIM:613426 |
| Ciliary Dyskinesia, Primary, 37 |
|
Hypothyroidism, Female infertility, Bronchiectasis, Goiter |
OMIM:617577 |
| Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Hypertrophic cardiomyopathy, Myopathy |
ORPHA:1369 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Cardiomyopathy, Increased variability in muscle fiber diameter, Muscle fiber atrophy, Generalized... |
OMIM:258450 |
| Systemic Lupus Erythematosus 17 |
|
Leukopenia, Raynaud phenomenon, Lymphopenia, Autoimmune thrombocytopenia, Hypertensive crisis, Mi... |
OMIM:301080 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Megaloblastic anemia, Paroxysmal atrial tachycardia, Diarrhea, Cardiac arrest, Congestive heart f... |
ORPHA:49827 |
| American Trypanosomiasis |
|
Achalasia, Diarrhea, Skin rash, Congestive heart failure, Lymphadenopathy, Dyspnea, Cough, Hepato... |
ORPHA:3386 |
| 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatic necrosis, Dicarboxylic aciduria, Dilated cardiomyopathy, Hepatic steatosis, Hypertrophic ... |
OMIM:231530 |
| Craniofaciofrontodigital Syndrome |
|
Pulmonary arterial hypertension, Cardiomegaly, Persistent fetal circulation, Ventricular septal d... |
ORPHA:363705 |
| Immunodeficiency 87 And Autoimmunity |
|
Atrioventricular canal defect, Necrotizing enterocolitis, Decreased proportion of CD4-positive T ... |
OMIM:619573 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Pulmonary arterial hypertension, Leukopenia, Anemia, Hyperuricemia, Pancytopenia, Increased blood... |
OMIM:613845 |
| Lysosomal Acid Lipase Deficiency |
|
Abnormal urine potassium concentration, Hypotension, Diarrhea, Elevated hepatic transaminase, Pri... |
ORPHA:275761 |
| Kaposiform Lymphangiomatosis |
|
Pancreatic cysts, Anemia, Epidural hemorrhage, Enlarged kidney, Abnormal spleen morphology, Abnor... |
ORPHA:464329 |
| Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Anemia, Short stature, Exocrine pancreatic insufficiency, Elevated hepati... |
OMIM:260400 |
| X-Linked Lymphoproliferative Disease |
|
T lymphocytopenia, Hepatosplenomegaly, Increased T cell count, Bone marrow hypocellularity, Cervi... |
ORPHA:2442 |
| Cardiomyopathy, Familial Restrictive, 6 |
|
Restrictive cardiomyopathy, Pulmonary insufficiency, Hepatomegaly, Pulmonic stenosis, Tricuspid r... |
OMIM:619433 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Flexion contracture, Hepatosplenomegaly, Hypertrophic cardiomyopathy, Airway obstruction, Bone ma... |
ORPHA:505248 |
| Pulmonary Hypertension, Primary, 3 |
|
Pulmonary arterial hypertension, Increased pulmonary vascular resistance, Dyspnea, Elevated pulmo... |
OMIM:615343 |
| Autosomal Recessive Spastic Paraplegia Type 26 |
|
Premature ovarian insufficiency, Decreased serum testosterone concentration |
ORPHA:101006 |
| Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Atrioventricular canal defect, Pulmonary arterial hypertension, Pulmonary val... |
ORPHA:210122 |
| Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Dilated cardiomyopathy, Polycystic ovaries, Precocious puberty, Hypergonadotropic hypogonadism |
ORPHA:2229 |
| Klippel-Trénaunay Syndrome |
|
Respiratory insufficiency, Pulmonary embolism, Abnormality of the menstrual cycle, Congestive hea... |
ORPHA:90308 |
| Toxic Epidermal Necrolysis |
|
Conjunctivitis, Sudden cardiac death, Anemia, Neutropenia, Dysuria, Elevated hepatic transaminase... |
ORPHA:537 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Bloody diarrhea, Lymphocytosis, Subconjunctival hemorrhage, Vasculitis in the skin, Failure to th... |
OMIM:617718 |
| Tropical Endomyocardial Fibrosis |
|
Systolic heart murmur, Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Corona... |
ORPHA:75565 |
| Refsum Disease, Classic |
|
Elevated circulating phytanic acid concentration, Congestive heart failure, Arrhythmia, Cardiomeg... |
OMIM:266500 |
| Autosomal Recessive Progressive External Ophthalmoplegia |
|
Cardiomyopathy, Muscle fiber atrophy, Elevated circulating creatine kinase concentration, Myopath... |
ORPHA:254886 |
| Cardiomyopathy, Dilated, 1Nn |
|
Reduced left ventricular ejection fraction, Ventricular arrhythmia, Congestive heart failure, Inc... |
OMIM:615916 |
| Necrotizing Enterocolitis |
|
Hypotension, Bloody diarrhea, Vomiting, Diarrhea, Small for gestational age, Peritonitis, Shock, ... |
ORPHA:391673 |
| Polyarteritis Nodosa |
|
Raynaud phenomenon, Hypertension, Pericarditis, Elevated circulating C-reactive protein concentra... |
ORPHA:767 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hypothyroidism, Unconjugated hyperbilirubinemia, Reticulocytosis, Hepatosplenomegaly, Hypertrophi... |
OMIM:613673 |
| Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Increased circulating prolactin concentration, Hypogonadism, Hyperpitui... |
ORPHA:91351 |
| Cranioectodermal Dysplasia 2 |
|
Patent foramen ovale, Biliary cirrhosis, Rhizomelia, Short stature, Hyperbilirubinemia, Polysplen... |
OMIM:613610 |
| Porphyria Cutanea Tarda |
|
Recurrent bacterial skin infections, Abnormal circulating porphyrin concentration, Porphyrinuria,... |
ORPHA:101330 |
| Immunodeficiency 40 |
|
Respiratory tract infection, Intermittent diarrhea, T lymphocytopenia, Interstitial pneumonitis, ... |
OMIM:616433 |
| Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Premature ovarian insufficiency, Failure to thrive, Female infertility, Elevated circulating crea... |
OMIM:619518 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Ventricular arrhythmia, Microangiopathic hemolytic anemia, Thrombocytopenia, Hyperkalemia |
OMIM:141000 |
| Inhalational Anthrax |
|
Hypotension, Dyspnea, Respiratory distress, Internal hemorrhage |
ORPHA:247257 |
| Lysinuric Protein Intolerance |
|
Leukopenia, Anemia, Pulmonary hemorrhage, Intraalveolar phospholipid accumulation, Diarrhea, Vomi... |
OMIM:222700 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Cirrhosis, Anemia, Type II diabetes mellitus, Jaundice, Erythroid hyperplasia, Hepatosplenomegaly... |
OMIM:616860 |
| Myotonic Dystrophy 2 |
|
Hypogonadism, Type II diabetes mellitus, Elevated circulating creatine kinase concentration, Olig... |
OMIM:602668 |
| Cardiomyopathy, Familial Hypertrophic, 26 |
|
Sudden cardiac death, Permanent atrial fibrillation, Congestive heart failure, Hypertrophic cardi... |
OMIM:617047 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Impaired renal concentrating ability, Hyperaldosteronism, Hypokalemia, Renal salt wasting, Hypern... |
OMIM:602522 |
| Distal Monosomy 12Q |
|
Late onset atopic dermatitis, Vesicoureteral reflux, Patent foramen ovale, Congenital hypertrophy... |
ORPHA:96149 |
| Mu-Heavy Chain Disease |
|
Anemia, Weight loss, Increased circulating antibody level, Abnormal B cell count, Lymphadenopathy... |
ORPHA:100024 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperlipidemia, Mildly elevated creatine kinase |
OMIM:604484 |
| Dominant Beta-Thalassemia |
|
Hypothyroidism, Abnormality of iron homeostasis, Diarrhea, Adrenal insufficiency, Extramedullary ... |
ORPHA:231226 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Leukopenia, 3-Methylglutaconic aciduria, Flexion contracture, Rhizomelia, Abnormal bleeding, Cong... |
OMIM:616271 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Pneumothorax, Urethral stricture, Abnormal blood ion concentration, Abnormality of the bladder, R... |
ORPHA:79404 |
| Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Decreased circulating antibody level, Lymphopenia, ... |
ORPHA:169079 |
| Carnitine Palmitoyl Transferase 1A Deficiency |
|
Sudden cardiac death, Transient hyperlipidemia, Hypertrophic cardiomyopathy, Skeletal muscle atro... |
ORPHA:156 |
| Neonatal Lupus Erythematosus |
|
Anemia, Abnormality of the liver, Neutropenia, Hemolytic anemia, Dilated cardiomyopathy, Pancytop... |
ORPHA:398124 |
| Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Lower limb muscle weakness, Generalized amyotrophy, Abnormal EKG, Lower limb hypertonia, Cardiomy... |
ORPHA:1177 |
| Dubowitz Syndrome |
|
Gastroesophageal reflux, Chronic diarrhea, Short stature, Acute lymphoblastic leukemia, Eczema, E... |
OMIM:223370 |
| Hurler-Scheie Syndrome |
|
Splenomegaly, Rhinitis, Hepatomegaly, Abnormal heart valve morphology, Cardiomyopathy |
ORPHA:93476 |
| Fontaine Progeroid Syndrome |
|
Respiratory insufficiency, Pneumothorax, Recurrent aspiration pneumonia, Hypoplastic labia majora... |
OMIM:612289 |
| Holocarboxylase Synthetase Deficiency |
|
Keratoconjunctivitis, Eczema, Respiratory distress, Organic aciduria, Perioral eczema, Hyperammon... |
ORPHA:79242 |
| Actinic Prurigo |
|
Pyoderma, Glomerulonephritis, Cheilitis |
OMIM:174770 |
| Insulin-Resistance Syndrome Type B |
|
Hyperinsulinemia, Abnormal circulating lipid concentration, Increased serum testosterone level, E... |
ORPHA:2298 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Abnormal circulating creatine kinase concentration, Muscle fiber atrophy, Muscular dystrophy, Ele... |
ORPHA:369840 |
| Microphthalmia, Syndromic 9 |
|
Respiratory insufficiency, Truncus arteriosus, Hypoplasia of the uterus, Ventricular septal defec... |
OMIM:601186 |
| Acute Promyelocytic Leukemia |
|
Leukopenia, Anemia, Weight loss, Stomatitis, Pancytopenia, Diffuse alveolar hemorrhage, Epistaxis... |
ORPHA:520 |
| Hermansky-Pudlak Syndrome 7 |
|
Prolonged bleeding time, Impaired platelet aggregation |
OMIM:614076 |
| Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Pulmonary arterial hypertension, Respiratory distress, Hypospadias, Skeletal muscle atrophy, Grow... |
OMIM:619272 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Hemolytic-uremic syndrome, Prolonged neonatal jaundice, Transient ischemic attack, Jaundice, Micr... |
OMIM:274150 |
| Ddost-Cdg |
|
Nephrotic range proteinuria, Gastroesophageal reflux, Short stature, Elevated hepatic transaminas... |
ORPHA:300536 |
| Wilson Disease |
|
Aminoaciduria, Hyperphosphaturia, Decreased circulating ceruloplasmin concentration, Hepatocellul... |
OMIM:277900 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Centr... |
ORPHA:401768 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Flexion contracture, Abnormal mitochondria in muscle tissue, Dilated cardiomyopathy, Left ventric... |
OMIM:252011 |
| Griscelli Syndrome Type 1 |
|
Hyperlipidemia |
ORPHA:79476 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Sudden cardiac death, Supraventricular arrhythmia, Elbow flexion contracture, Elevated circulatin... |
ORPHA:98855 |
| Rabson-Mendenhall Syndrome |
|
Hypothyroidism, Increased C-peptide level, Precocious puberty, Long penis, Fasting hyperinsulinem... |
ORPHA:769 |
| Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect |
|
Abnormal circulating creatine kinase concentration, Abnormal circulating copper concentration, Lo... |
ORPHA:521411 |
| Non-Involuting Congenital Hemangioma |
|
Thrombocytopenia, Congestive heart failure, Hepatic hemangioma, Telangiectasia of the skin |
ORPHA:141179 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Retinal hemorrhage, Bloody diarrhea, Vitreous hemorrhage, Abnormality of the liver, Cerebral hemo... |
ORPHA:464321 |
| Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion |
|
Takotsubo cardiomyopathy |
ORPHA:363549 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Hypertrophic cardiomyopathy |
OMIM:618683 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Hypotension, Acute myeloid leukemia, Diarrhea, Chronic myelomonocytic leukemia, Hepatomegaly, Mye... |
ORPHA:98849 |
| Gaucher Disease Type 1 |
|
Pulmonary arterial hypertension, Leukopenia, Cirrhosis, Anemia, Abnormal pulmonary interstitial m... |
ORPHA:77259 |
| Adult-Onset Still Disease |
|
Abnormal circulating lipid concentration, Hepatitis, Pleuritis, Neutrophilia, Recurrent pharyngit... |
ORPHA:829 |
| Congenital Rubella Syndrome |
|
Anemia, Jaundice, Type I diabetes mellitus, Abnormality of the pulmonary artery, Hepatomegaly, Th... |
ORPHA:290 |
| Pseudo-Torch Syndrome 3 |
|
Lymphadenitis, Anemia, Cerebral hemorrhage, Death in infancy, Hypertension, Increased circulating... |
OMIM:618886 |
| Familial Chylomicronemia Syndrome |
|
Recurrent pancreatitis, Pulmonary embolism, Perianal abscess, Jaundice, Hepatosplenomegaly, Hepat... |
ORPHA:444490 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia |
ORPHA:231401 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Flexion contracture, Elevated hepatic transaminase, Hepatic steatosis, Hypertrophic cardiomyopath... |
ORPHA:17 |
| Naxos Disease |
|
Sudden cardiac death, Paroxysmal ventricular tachycardia, Congestive heart failure, Arrhythmia, C... |
ORPHA:34217 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory insufficiency, Nocturnal hypoventilation, Hand muscle atrophy, Respiratory distress, ... |
OMIM:211530 |
| Leukoencephalopathy With Vanishing White Matter 1 |
|
Primary gonadal insufficiency, Decreased circulating progesterone, Secondary amenorrhea, Prematur... |
OMIM:603896 |
| Roifman Syndrome |
|
Splenomegaly, Hip contracture, Ventricular septal defect, Short stature, Eczema, Recurrent otitis... |
OMIM:616651 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Respiratory insufficiency, 3-Methylglutaconic aciduria, Hyperalaninemia, Hypertension, Hypertroph... |
OMIM:614052 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Cirrhosis, Jaundice, Biliary tract abnormality, Neonatal cholestatic liver disease, Failure to th... |
ORPHA:79301 |
| Monosomy 13Q34 |
|
Pulmonic stenosis, Epistaxis, Metrorrhagia, Hepatic steatosis, Growth delay, Hypercalcemia, Prolo... |
ORPHA:96168 |
| Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:610644 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Diarrhea, Microangiopathic hemolytic anemia, Hypertension, Reticulocytosis, Increased blood urea ... |
OMIM:235400 |
| Rotor Syndrome |
|
Intermittent jaundice, Porphyrinuria, Bilirubinuria, Storage in hepatocytes, Hyperbilirubinemia, ... |
ORPHA:3111 |
| Neuraminidase Deficiency |
|
Short stature, Urinary excretion of sialylated oligosaccharides, Increased urinary O-linked sialo... |
OMIM:256550 |
| Diffuse Neonatal Hemangiomatosis |
|
Anemia, Thrombocytopenia, Hypercalcemia, Hepatomegaly, Ascites |
ORPHA:2123 |
| Giant platelet syndrome with thrombocytopenia |
|
Thrombocytopenia, Gastrointestinal hemorrhage, Giant platelets |
OMIM:137560 |
| Premature Ovarian Failure 6 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating follicle stimulating ... |
OMIM:612310 |
| Galloway-Mowat Syndrome 1 |
|
Short stature, Nephrotic syndrome, Joint contracture of the hand, Camptodactyly, Diffuse mesangia... |
OMIM:251300 |
| Galloway-Mowat Syndrome 9 |
|
Stage 5 chronic kidney disease, Gastroesophageal reflux, Focal segmental glomerulosclerosis, Diff... |
OMIM:619603 |
| Kaufman Oculocerebrofacial Syndrome |
|
Ventricular septal defect, Short stature, Hypoplastic labia majora, Atrial septal defect, Constip... |
OMIM:244450 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Anemia, Failure to thrive, Hepatomegaly, Thrombocytopenia, Splenomegaly |
OMIM:615085 |
| Ovarian Fibroma |
|
Gonadal calcification, Abnormality of the ovary, Pleural effusion, Peritonitis, Mesenteric cyst, ... |
ORPHA:314473 |
| Testicular Regression Syndrome |
|
Decreased fertility, Ambiguous genitalia, Decreased testicular size, Abnormal male internal genit... |
ORPHA:983 |
| Prolidase Deficiency |
|
Anemia, Prolonged neonatal jaundice, Increased circulating antibody level, Failure to thrive, Rec... |
OMIM:170100 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Anemia, Hypogonadism, Elevated transferrin saturation, Azoospermia, Poikilocytosis, Decreased mea... |
OMIM:615234 |
| Satoyoshi Syndrome |
|
Short stature, Abnormality of the ovary, Abnormality of the uterus, Hypoplasia of the ovary, Neph... |
ORPHA:3130 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Hyperalaninemia, Death in infancy, Failure to thrive, Increased serum pyruvate, Hyperprolinemia, ... |
OMIM:619046 |
| Goodpasture Syndrome |
|
Glomerular crescent formation, Pulmonary hemorrhage, Increased DLCO, Anemia, Exertional dyspnea, ... |
OMIM:233450 |
| Premature Ovarian Failure 7 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating luteinizing hormone l... |
OMIM:612964 |
| Griscelli Syndrome Type 2 |
|
Jaundice, Pancytopenia, Lymphadenopathy, Hemophagocytosis, Hyperlipidemia, Hepatomegaly, Neutrope... |
ORPHA:79477 |
| Ovarian Dysgenesis 2 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Delayed puberty, Hypergonadotropic hypogon... |
OMIM:300510 |
| Tetanus |
|
Hypertension, Respiratory distress, Elevated circulating creatine kinase concentration, Bradycard... |
ORPHA:3299 |
| Isovaleric Acidemia |
|
Cerebellar hemorrhage, Leukopenia, Vomiting, Pancytopenia, Bone marrow hypocellularity, Thrombocy... |
OMIM:243500 |
| Lig4 Syndrome |
|
Hypothyroidism, Telangiectasia, Pancytopenia, Failure to thrive, Cryptorchidism, Thrombocytopenia... |
OMIM:606593 |
| Renal Cysts And Diabetes Syndrome |
|
Elevated hepatic transaminase, Biliary tract abnormality, Multiple glomerular cysts, Nephrolithia... |
OMIM:137920 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Intermittent jaundice, Hyperbilirubinemia, Splenomegaly, Reticulocytosis |
OMIM:179700 |
| Pulmonary Capillary Hemangiomatosis |
|
Elevated pulmonary artery pressure, Exertional dyspnea, Hemothorax, Pericardial effusion, Hypoxem... |
ORPHA:199241 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Renal steatosis, Elevated circulating alanine aminotransferase concentration, Hepatic failure, In... |
OMIM:261680 |
| Liver Failure, Infantile, Transient |
|
3-hydroxydicarboxylic aciduria, Elevated circulating alanine aminotransferase concentration, Micr... |
OMIM:613070 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Chronic diarrhea, Panhypogammaglobulinemia, B lymphocytopenia, Generalized lymphadenopathy, Lymph... |
OMIM:602450 |
| Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Atelectasis, Bronchiectasis |
OMIM:253240 |
| Shwachman-Diamond Syndrome 2 |
|
Neutropenia, Diarrhea, Death in infancy, Normocytic anemia, Steatorrhea, Failure to thrive, Hepat... |
OMIM:617941 |
| Boutonneuse Fever |
|
Leukopenia, Diarrhea, Lymphadenopathy, Nausea, Increased circulating IgM level, Cervical lymphade... |
ORPHA:83313 |
| Dihydrolipoamide Dehydrogenase Deficiency |
|
Hypertrophic cardiomyopathy, Increased serum pyruvate, Hepatomegaly |
OMIM:246900 |
| Refractory Anemia With Excess Blasts |
|
Abnormal circulating albumin concentration, Acute myeloid leukemia, Retinal hemorrhage, Abnormal ... |
ORPHA:86839 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Thrombocytopenia, Sideroblastic anemia, Hypertension, Arrhythmia |
OMIM:617021 |
| Rapidly Involuting Congenital Hemangioma |
|
Thrombocytopenia, Congestive heart failure, Hepatic hemangioma, Telangiectasia of the skin |
ORPHA:141184 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sudden cardiac death, Supraventricular tachycardia, Sinoatrial block, Pericardial effusion, Ventr... |
ORPHA:300751 |
| Mandibuloacral Dysplasia |
|
Hypertriglyceridemia, Increased circulating free fatty acid level, Hypercholesterolemia |
ORPHA:2457 |
| Kearns-Sayre Syndrome |
|
Third degree atrioventricular block, Renal tubular acidosis, Short stature, Sideroblastic anemia,... |
OMIM:530000 |
| Pearson Marrow-Pancreas Syndrome |
|
Anemia, Vomiting, Reticulocytopenia, Small for gestational age, Hyperbilirubinemia, Refractory si... |
OMIM:557000 |
| Imerslund-Gräsbeck Syndrome |
|
Vomiting, Megaloblastic anemia, Weight loss, Anisopoikilocytosis, Abnormal hemoglobin concentrati... |
ORPHA:35858 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Hypertriglyceridemia, Increased circulating ferritin concentration |
OMIM:619313 |
| Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Failure to thrive, Decreased circulating plasmalogen concentration |
OMIM:222765 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Recurrent aphthous stomatitis, B lymphocytopenia, Type I diabetes mellitus, Autoimmune hemolytic ... |
OMIM:301078 |
| Sarcoidosis, Susceptibility To, 2 |
|
Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Pneumothorax, Bronch... |
OMIM:612387 |
| Combined Oxidative Phosphorylation Deficiency 40 |
|
Anemia, Decreased circulating cortisol level, Elevated circulating creatine kinase concentration,... |
OMIM:618835 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Hypotension, Diarrhea, Cardiac arrest, Elevated hepatic transaminase, Hepatomegaly, Hyperuricemia... |
ORPHA:20 |
| Atrial Septal Defect 9 |
|
Pulmonary arterial hypertension, Bicuspid aortic valve, Secundum atrial septal defect |
OMIM:614475 |
| Alpha-2-Plasmin Inhibitor Deficiency |
|
Joint hemorrhage, Hemothorax, Bruising susceptibility, Persistent bleeding after trauma |
OMIM:262850 |
| Hereditary Folate Malabsorption |
|
Gastroesophageal reflux, Megaloblastic anemia, Diarrhea, Decreased circulating antibody level, Pa... |
ORPHA:90045 |
| Immunodeficiency 54 |
|
Reduced natural killer cell count, Adrenocorticotropic hormone excess, Adrenal insufficiency, Fai... |
OMIM:609981 |
| Trichorhinophalangeal Syndrome, Type Ii |
|
Vesicoureteral reflux, Gastroesophageal reflux, Vomiting, Bicuspid aortic valve, Bilateral crypto... |
OMIM:150230 |
| Digeorge Syndrome |
|
Hypothyroidism, Hypoplasia of the thymus, Truncus arteriosus, Renal dysplasia, Recurrent sinusiti... |
OMIM:188400 |
| Leigh Syndrome With Leukodystrophy |
|
Apnea, Hypertrophic cardiomyopathy, Ventricular septal defect |
ORPHA:255241 |
| Cardiomyopathy, Dilated, 1A |
|
Sudden cardiac death, Third degree atrioventricular block, Pericardial effusion, Ventricular arrh... |
OMIM:115200 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatic failure, Anemia, Petechiae, Purpura, Respiratory distress, Arthrogryposis multiplex conge... |
OMIM:608013 |
| Hermansky-Pudlak Syndrome 5 |
|
Prolonged bleeding time, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Absent plat... |
OMIM:614074 |
| Shigellosis |
|
Myocarditis, Bloody diarrhea, Vomiting, Bloody mucoid diarrhea, Paralytic ileus, Microangiopathic... |
ORPHA:810 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Congestive heart failure, Premature ventr... |
OMIM:607450 |
| Hec Syndrome |
|
Respiratory insufficiency, Cardiomyopathy, Endocardial fibroelastosis, Arrhythmia |
ORPHA:2119 |
| Viss Syndrome |
|
Hypothyroidism, Pneumothorax, Chronic constipation, Eczema, Chronic diarrhea, Dysphagia, Contract... |
OMIM:619472 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Abnormal circulating creatine kinase concentration, Short stature, Abnormal granulocyte morpholog... |
ORPHA:98907 |
| Splenoportal Vascular Anomalies |
|
Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Diabetes mellitus, Hyperammone... |
OMIM:271500 |
| Bloom Syndrome |
|
Decreased fertility in females, Malar rash, Bronchiectasis, Leukemia, Type II diabetes mellitus, ... |
OMIM:210900 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Right bundle branch block, Cardiac arrest, Paroxysmal supraventricular tachycardia, Congestive he... |
OMIM:616117 |
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Intermittent jaundice, Cirrhosis, Diarrhea, Hepatocellular carcinoma, Intrahepatic cholestasis, F... |
OMIM:601847 |
| Premature Ovarian Failure 20 |
|
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... |
OMIM:619938 |
| Hyperparathyroidism, Transient Neonatal |
|
Gastroesophageal reflux, Enlarged kidney, Splenic cyst, Unilateral renal agenesis, Respiratory di... |
OMIM:618188 |
| Gracile Syndrome |
|
Cirrhosis, Decreased transferrin saturation, Hepatic steatosis, Increased circulating ferritin co... |
ORPHA:53693 |
| Arima Syndrome |
|
Renal tubular atrophy, Hepatic fibrosis, Cirrhosis, Anemia, Stage 5 chronic kidney disease, Renal... |
OMIM:243910 |
| 49,Xxxxy Syndrome |
|
Pulmonary embolism, Gastroesophageal reflux, Hypogonadism, Renal dysplasia, Renal hypoplasia/apla... |
ORPHA:96264 |
| Premature Ovarian Failure 18 |
|
Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ... |
OMIM:619203 |
| Adrenomyodystrophy |
|
Short stature, Primary adrenal insufficiency, Hepatic steatosis, Myopathy, Megacystis, Abnormalit... |
ORPHA:977 |
| Dehydrated Hereditary Stomatocytosis |
|
Increased total bilirubin, Intermittent jaundice, Splenomegaly, Congenital hemolytic anemia, Incr... |
ORPHA:3202 |
| Noonan Syndrome 12 |
|
Supravalvular aortic stenosis, Thrombocytopenia, Decreased response to growth hormone stimulation... |
OMIM:618624 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Hypoplastic tricuspid valve, Hypoplasia of right ventricle, Double outlet left ventricle, Anterio... |
ORPHA:2255 |
| Triosephosphate Isomerase Deficiency |
|
Respiratory insufficiency, Hemolytic anemia, Normocytic anemia, Jaundice, Congestive heart failur... |
OMIM:615512 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Asplenia, Hepatic fibrosis, Truncus arteriosus, Enlarged kidney, Cystic renal dysplasia, Malforma... |
OMIM:615415 |
| Beta-Thalassemia Major |
|
Hypothyroidism, Abnormality of iron homeostasis, Diarrhea, Adrenal insufficiency, Hepatocellular ... |
ORPHA:231214 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Respiratory insufficiency, 3-Methylglutaconic aciduria, Hyperalaninemia, Decreased liver function... |
OMIM:618329 |
| Glycogen Storage Disease Ii |
|
Respiratory insufficiency, Right axis deviation, Sinus tachycardia, Wolff-Parkinson-White syndrom... |
OMIM:232300 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Renal steatosis, Hepatic failure, Hepatic steatosis |
OMIM:261650 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Thrombocytopenia, Bone marrow hypocellularity, Impaired platelet aggregation |
OMIM:300835 |
| D-2-Hydroxyglutaric Aciduria 1 |
|
Apnea, Aortic regurgitation, Inspiratory stridor, Cardiomyopathy |
OMIM:600721 |
| Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Jaundice, Steatorrhea, Failure to thrive, Hepatomegaly, Exocrine pancreatic insufficiency, Anemia... |
OMIM:612714 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Increased mean corpusc... |
OMIM:619041 |
| Diaphanospondylodysostosis |
|
Respiratory insufficiency, Abnormal liver lobulation, Enlarged kidney, Cystic renal dysplasia, Re... |
OMIM:608022 |
| Harderoporphyria |
|
Vomiting, Hemolytic anemia, Reticulocytosis, Neonatal hyperbilirubinemia, Increased circulating f... |
OMIM:618892 |
| Listeriosis |
|
Septic arthritis, Diarrhea, Pericarditis, Pneumonia, Splenic abscess, Endocarditis, Osteomyelitis... |
ORPHA:533 |
| Premature Ovarian Failure 13 |
|
Elevated circulating follicle stimulating hormone level, Female infertility, Amenorrhea, Oligomen... |
OMIM:617442 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Nodular regenerative hyperplasia of liver, Hepatocellular carcinoma, Epistaxis, Thrombocytopenia,... |
OMIM:619463 |
| Gamma-Heavy Chain Disease |
|
Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, ... |
ORPHA:100026 |
| Gmppb-Related Limb-Girdle Muscular Dystrophy R19 |
|
Respiratory insufficiency, Dilatation of the ventricular cavity, Lower limb muscle weakness, Elev... |
ORPHA:363623 |
| Transaldolase Deficiency |
|
Hepatic fibrosis, Cirrhosis, Anemia, Telangiectasia, Small for gestational age, Pancytopenia, Hep... |
OMIM:606003 |
| Shwachman-Diamond Syndrome |
|
Acute myeloid leukemia, Hypoamylasemia, Impaired neutrophil chemotaxis, Bone marrow hypocellulari... |
ORPHA:811 |
| Methylmalonic Aciduria, Cblb Type |
|
Anemia, Vomiting, Hyperglycinemia, Methylmalonic acidemia, Pancytopenia, Failure to thrive, Hyper... |
OMIM:251110 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Increased circulating cortisol level, Decreased circulating ACTH level, Hypertension, Pigmented m... |
OMIM:610475 |
| Cardiac-Urogenital Syndrome |
|
Ambiguous genitalia, Cor triatrium sinister, Pericardial effusion, Patent urachus, Unilateral cry... |
OMIM:618280 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Hypermethioninemia, Elevated circulating alanine aminotransferase concentration, Hyperbilirubinem... |
OMIM:614300 |
| Penoscrotal Transposition |
|
Renal dysplasia, Shawl scrotum, Penoscrotal transposition, Renal agenesis, Abnormality of the ure... |
ORPHA:2842 |
| Follicular Lymphoma |
|
Weight loss, Abnormality of the peritoneum, Pleural effusion, Lymphadenopathy, Mediastinal lympha... |
ORPHA:545 |
| Good Syndrome |
|
Thymoma, Anemia, Recurrent respiratory infections, Bronchiectasis, Diarrhea, Aplasia/Hypoplasia o... |
ORPHA:169105 |
| Ovarian Dysgenesis 7 |
|
Delayed puberty, Hypoplasia of the uterus, Primary amenorrhea |
OMIM:618117 |
| Bernard-Soulier Syndrome |
|
Decreased platelet glycoprotein Ib-IX-V, Macrothrombocytopenia, Impaired ristocetin-induced plate... |
ORPHA:274 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Aortic valve atresia, Mitral atresia, Microvesicular hepatic steatosis, Vomiting, Ketonuria, Bicu... |
OMIM:220111 |
| Infantile Liver Failure Syndrome 2 |
|
Hyperammonemia, Prolonged prothrombin time, Cardiomyopathy |
OMIM:616483 |
| Mitochondrial Complex I Deficiency, Nuclear Type 7 |
|
Hypertrophic cardiomyopathy |
OMIM:618229 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cirrhosis, Diarrhea, Jaundice, Epistaxis, Failure to thrive, Hepatomegaly, Cholelithiasis, Intrah... |
OMIM:211600 |
| Chédiak-Higashi Syndrome |
|
Hepatosplenomegaly, Pleural effusion, Hyponatremia, Thrombocytopenia, Abnormal leukocyte morpholo... |
ORPHA:167 |
| Dpm1-Cdg |
|
Knee flexion contracture, Hepatic fibrosis, Diarrhea, Muscular dystrophy, External genital hypopl... |
ORPHA:79322 |
| Wiskott-Aldrich Syndrome |
|
Diarrhea, Large vessel vasculitis, Recurrent sinusitis, Eosinophilia, Chronic diarrhea, Hematemes... |
OMIM:301000 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Platelet anisocytosis, Thrombocytopenia, Epistaxis, Increased mean platelet volume |
OMIM:615193 |
| Diabetes And Deafness, Maternally Inherited |
|
Cardiomyopathy |
OMIM:520000 |
| Ciliary Dyskinesia, Primary, 33 |
|
Bronchiectasis, Recurrent bronchitis, Recurrent pneumonia, Recurrent lower respiratory tract infe... |
OMIM:616726 |
| Fanconi Anemia, Complementation Group G |
|
Anemia, Thrombocytopenia, Neutropenia, Leukemia |
OMIM:614082 |
| Infantile Refsum Disease |
|
Cardiomyopathy, Elevated circulating phytanic acid concentration, Hepatomegaly, Arrhythmia, Facia... |
ORPHA:772 |
| Glycogen Storage Disease Iv |
|
Cirrhosis, Hepatic failure, Hepatosplenomegaly, Skeletal muscle atrophy, Portal hypertension, Tub... |
OMIM:232500 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Leukopenia, Hepatic fibrosis, Dilated cardiomyopathy, Pancytopenia, Failure to thrive, Thrombocyt... |
OMIM:613989 |
| Wild Type Attr Amyloidosis |
|
Orthostatic hypotension due to autonomic dysfunction, Intermittent diarrhea, Chronic diarrhea, Ne... |
ORPHA:330001 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Abnormal cardiac septum morphology, Respiratory distress, Hypospadias, Cryptorchidism, Neonatal r... |
OMIM:217980 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Osteomyelitis leading to amputation due to slow healing fractures, Diarrhea, Hepatocellular carci... |
OMIM:256810 |
| Collagenoma, Familial Cutaneous |
|
Cardiomyopathy, Right ventricular cardiomyopathy, Tricuspid regurgitation, Congestive heart failu... |
OMIM:115250 |
| Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Hypoplastic a... |
OMIM:159550 |
| Folinic Acid-Responsive Seizures |
|
Apnea, Respiratory distress |
ORPHA:79097 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Cirrhosis, Diarrhea, Hepatitis, Hyperbilirubinemia, Jaundice, Acholic stools, Steatorrhea, Hepati... |
OMIM:613812 |
| Prune1-Related Neurological Syndrome |
|
Respiratory insufficiency, Hypertrophic cardiomyopathy, Elevated circulating creatine kinase conc... |
ORPHA:544469 |
| Ethylene Glycol Poisoning |
|
Hypotension, Shock, Gastritis, Abnormal pattern of respiration, Facial palsy, Decreased urine out... |
ORPHA:31826 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Persistent fetal circulation, Mitral valve prolapse, Respiratory distress, Atrial septal defect, ... |
OMIM:612863 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypermethioninemia, Cirrhosis, Hepatic failure, Microvesicular hepatic steatosis, 4-hydroxyphenyl... |
OMIM:617156 |
| Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Recurrent bronchitis, Atelectasis |
OMIM:300455 |
| Wt Limb-Blood Syndrome |
|
Pancytopenia, Cryptorchidism, Thrombocytopenia, Leukemia, Hypoplastic anemia |
OMIM:194350 |
| Acquired Purpura Fulminans |
|
Intracranial hemorrhage, Internal hemorrhage, Shock, Elevated circulating C-reactive protein conc... |
ORPHA:49566 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Chronic lymphatic leukemia, Increased proportion of transitional B cells, B lymphocytopenia, Bron... |
OMIM:616005 |
| Nocardiosis |
|
Pneumothorax, Scleritis, Productive cough, Pericarditis, Pleural effusion, Pneumonia, Nonproducti... |
ORPHA:31204 |
| Lymphoid Interstitial Pneumonia |
|
Bronchiectasis, Rheumatoid arthritis, Skin rash, Enlarged kidney, Keratoconjunctivitis sicca, Ray... |
ORPHA:79128 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... |
OMIM:616452 |
| Carney Complex |
|
Precocious puberty, Neoplasm of the pancreas, Oligospermia, Follicular thyroid carcinoma, Ovarian... |
ORPHA:1359 |
| Wiskott-Aldrich Syndrome |
|
Sudden cardiac death, Glomerulopathy, Hypoplasia of the thymus, Eczema, Chronic leukemia, Chronic... |
ORPHA:906 |
| Ovarian Hyperstimulation Syndrome |
|
Hemorrhagic ovarian cyst, Increased serum testosterone level, Enlarged polycystic ovaries, Increa... |
ORPHA:64739 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory failure, Exertional dyspnea, Hypoxemia, Respiratory distress, Apnea, Nonspecific inte... |
OMIM:610921 |
| Juvenile Dermatomyositis |
|
Mucosal telangiectasiae, Calcinosis, Bundle branch block, Telangiectasia of the skin, Vasculitis,... |
ORPHA:93672 |
| Pulmonary Hypertension, Primary, 4 |
|
Pulmonary arterial hypertension, Elevated pulmonary artery pressure, Right bundle branch block, I... |
OMIM:615344 |
| Noonan Syndrome 11 |
|
Hypertrophic cardiomyopathy, Pulmonic stenosis, Atrial septal defect |
OMIM:618499 |
| Beckwith-Wiedemann Syndrome |
|
Nephroblastoma, Vesicoureteral reflux, Gonadoblastoma, Cardiomegaly, Renal cortical cysts, Pancre... |
OMIM:130650 |
| Idiopathic Bronchiectasis |
|
Respiratory tract infection, Bronchiectasis, Cachexia, Emphysema, Myocardial infarction, Recurren... |
ORPHA:60033 |
| Fanconi-Bickel Syndrome |
|
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Renal tubular acido... |
ORPHA:2088 |
| Atypical Hemolytic Uremic Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:2134 |
| Bone Marrow Failure Syndrome 2 |
|
Leukopenia, Anemia, Thrombocytopenia, Bone marrow hypocellularity |
OMIM:615715 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Abnormal natural killer cell count, Abnormal T cell subset distribution, Anemia, Neutropenia, Pan... |
ORPHA:158048 |
| Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:819 |
| Stormorken Syndrome |
|
Asplenia, Anemia, Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Epista... |
OMIM:185070 |
| Methylmalonic Aciduria, Cbla Type |
|
Anemia, Vomiting, Hyperglycinemia, Methylmalonic acidemia, Pancytopenia, Failure to thrive, Hyper... |
OMIM:251100 |
| Fanconi Anemia, Complementation Group V |
|
Anemia, Elevated circulating alpha-fetoprotein concentration, Bone marrow hypocellularity, Thromb... |
OMIM:617243 |
| Bile Acid Synthesis Defect, Congenital, 2 |
|
Diarrhea, Hyperbilirubinemia, Jaundice, Steatorrhea, Intrahepatic cholestasis, Failure to thrive,... |
OMIM:235555 |
| Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Respiratory insufficiency, Hypertrophic cardiomyopathy |
OMIM:618241 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Patent foramen ovale, Increased variability in muscle fiber diameter, Flexion contracture, Muscle... |
OMIM:616866 |
| Leptospirosis |
|
Hypotension, Diarrhea, Pericarditis, Pleural effusion, Hepatomegaly, Thrombocytopenia, Pulmonary ... |
ORPHA:509 |
| Idiopathic Copper-Associated Cirrhosis |
|
Cirrhosis, Decreased circulating ceruloplasmin concentration, Increased circulating copper concen... |
ORPHA:209919 |
| Spinal muscular atrophy, type I, with congenital bone fractures |
|
Flexion contracture, Decreased muscle mass, Generalized amyotrophy, Respiratory distress, Acute i... |
OMIM:271225 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Double outlet right ventricle, Pulmonary insufficiency, Short stature, Heart murmur, Decreased te... |
ORPHA:2326 |
| Whipple Disease |
|
Hypotension, Hypothyroidism, Anemia, Diarrhea, Pleuritis, Cachexia, Erectile dysfunction, Pericar... |
ORPHA:3452 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatic fibrosis, Increased total iron binding capacity, Jaundice, Hyperbilirubinemia, Portal fib... |
OMIM:616278 |
| Cardiomyopathy, Dilated, 1Y |
|
Ebstein anomaly of the tricuspid valve, Congestive heart failure, Dilated cardiomyopathy, Increas... |
OMIM:611878 |
| Typhoid |
|
Abnormal pulmonary interstitial morphology, Diarrhea, Cardiac arrest, Epistaxis, Constipation, He... |
ORPHA:99745 |
| Gaisböck Syndrome |
|
Increased mean corpuscular hemoglobin concentration, Hyperuricemia, Increased red blood cell coun... |
ORPHA:90041 |
| Drug-Induced Lupus Erythematosus |
|
Anemia, Elevated circulating creatine kinase concentration, Pericarditis, Increased blood urea ni... |
ORPHA:231111 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Tubulointerstitial nephritis, Infectious encephalitis, Nephrotic syndrome, Hepatitis, Skin rash, ... |
ORPHA:139402 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Cirrhosis, Microvesicular hepatic steatosis, Anemia, Ventricular septal defect, Cholestatic liver... |
OMIM:619418 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Respiratory distress |
ORPHA:240103 |
| Polycythemia Vera |
|
Respiratory insufficiency, Pulmonary embolism, Intermittent claudication, Angina pectoris, Bruisi... |
ORPHA:729 |
| Legionnaires Disease |
|
Hypotension, Abnormal pleura morphology, Diarrhea, Hepatitis, Jaundice, Pancreatitis, Recurrent p... |
ORPHA:549 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Anemia, Megaloblastic anemia, Cystathioninemia, Methylmalonic acidemia, Small for gestational age... |
OMIM:277380 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Hyperbilirubinemia, Jaundi... |
OMIM:616689 |
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Hepatic failure, Microvesicular hepatic steatosis, Dicarboxylic aciduria, Congestive heart failur... |
OMIM:611126 |
| Alg8-Cdg |
|
Anemia, Vomiting, Diarrhea, Small for gestational age, Failure to thrive, Hyponatremia, Ascites, ... |
ORPHA:79325 |
| Doors Syndrome |
|
Gastroesophageal reflux, Aspiration pneumonia, Arrhinencephaly, Adrenal hyperplasia, Spina bifida... |
ORPHA:79500 |
| Hepatocellular Carcinoma |
|
Hypotension, Diarrhea, Hepatomegaly, Hyponatremia, Thrombocytopenia, Hemobilia, Abnormality of th... |
ORPHA:88673 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Episodic respiratory distress, Hepatic failure, Hyperalaninemia, Abnormal renal tubule morphology... |
ORPHA:255210 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Gonadoblastoma, Biliary cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Increased ci... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Gonadoblastoma, Biliary cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Increased ci... |
ORPHA:99228 |
| Monosomy X |
|
Gonadoblastoma, Biliary cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Increased ci... |
ORPHA:99226 |
| Turner Syndrome |
|
Gonadoblastoma, Biliary cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Increased ci... |
ORPHA:881 |
| Fish-Eye Disease |
|
Angina pectoris, Lymphadenopathy, Decreased HDL cholesterol concentration, Hepatomegaly, Splenome... |
ORPHA:79292 |
| Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Abnormal left ventricular function, Palpitations, Upper limb muscle wea... |
ORPHA:892 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Pulmonary arterial hypertension, Leukopenia, Anemia, Hypoplasia of the thymus, Recurrent respirat... |
OMIM:612541 |
| Noonan Syndrome With Multiple Lentigines |
|
Decreased fertility, Atrioventricular canal defect, Aplasia/Hypoplasia of the abdominal wall musc... |
ORPHA:500 |
| Hermansky-Pudlak Syndrome 2 |
|
Gastroesophageal reflux, Reduced natural killer cell count, Decreased CD4:CD8 ratio, Enlarged pla... |
OMIM:608233 |
| Infantile Liver Failure Syndrome 3 |
|
Short stature, Jaundice, Elevated hepatic transaminase, Hepatic bridging fibrosis, Hepatic steato... |
OMIM:618641 |
| Ebola Hemorrhagic Fever |
|
Leukopenia, Vomiting, Diarrhea, Hepatitis, Increased circulating antibody level, Lymphopenia, Acu... |
ORPHA:319218 |
| Congenital Factor Vii Deficiency |
|
Post-partum hemorrhage, Intracranial hemorrhage, Bruising susceptibility, Epistaxis, Gingival ble... |
ORPHA:327 |
| Allergic Bronchopulmonary Aspergillosis |
|
Pulmonary arterial hypertension, Bronchiectasis, Weight loss, Abnormal eosinophil morphology, Emp... |
ORPHA:1164 |
| Ciliary Dyskinesia, Primary, 21 |
|
Recurrent pneumonia, Atelectasis, Bronchiectasis |
OMIM:615294 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory failure, Respiratory distress, Ventricular septal defect |
OMIM:617895 |
| Pseudoxanthoma Elasticum |
|
Retinal hemorrhage, Restrictive cardiomyopathy, Mitral stenosis, Mitral valve prolapse, Intermitt... |
OMIM:264800 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Chronic constipation, Recurrent sinusitis, Parotitis, Hepatomegaly, Thrombocytopenia, Splenomegal... |
OMIM:256040 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Bronchiectasis, Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Right ventricular di... |
OMIM:619705 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Abnormal circulating lipid concentration, Splenomegaly, Cirrhosis, Abnormal pulmonary interstitia... |
ORPHA:77293 |
| Tetragametic Chimerism |
|
Abnormality of the scrotum, Ambiguous genitalia, Abnormal testis morphology, Perineal hypospadias... |
ORPHA:199310 |
| Parenteral Nutrition-Associated Cholestasis |
|
Splenomegaly, Biliary hyperplasia, Hepatic fibrosis, Cirrhosis, Hepatic failure, Jaundice, Elevat... |
ORPHA:567983 |
| Immunodeficiency 7 |
|
Hypereosinophilia, Recurrent respiratory infections, Diarrhea, Failure to thrive, Lymphadenopathy... |
OMIM:615387 |
| Mcleod Syndrome |
|
Reduced haptoglobin level, Rhabdomyolysis, Dilated cardiomyopathy, Elevated circulating creatine ... |
OMIM:300842 |
| Developmental And Epileptic Encephalopathy 68 |
|
Flexion contracture, Respiratory distress |
OMIM:618201 |
| Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Flexion contracture, Respiratory distress, Atrial septal defect, Hypertrophic cardiomyopathy, Hep... |
OMIM:619383 |
| Myh9-Related Disease |
|
Spontaneous, recurrent epistaxis, Myocardial infarction, Menorrhagia, Giant platelets, Congenital... |
ORPHA:182050 |
| Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Vomiting, Decreased plasma carnitine, Elevated hepatic transaminase, Hepatic steatosis, Hepatomeg... |
OMIM:201450 |
| Perrault Syndrome 3 |
|
Short stature, Elevated circulating follicle stimulating hormone level, Elevated circulating lute... |
OMIM:614129 |
| Thyrocerebrorenal Syndrome |
|
Euthyroid goiter, Thrombocytopenia |
ORPHA:3327 |
| Renal And Mullerian Duct Hypoplasia |
|
Anteriorly displaced urethral meatus, Hydrocele testis, Aplasia of the uterus, Horseshoe kidney, ... |
OMIM:266810 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Small for gestational age, Elevated circulating creatine kinase con... |
OMIM:618775 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Patent foramen ovale, Bicuspid aortic valve, Elbow flexion contracture, Mitral valve prolapse, Le... |
OMIM:245600 |
| 48,Xxxy Syndrome |
|
Pulmonary embolism, Gastroesophageal reflux, Hypogonadism, Renal dysplasia, Decreased testicular ... |
ORPHA:96263 |
| Common Variable Immunodeficiency |
|
Abnormality of the liver, Hemolytic anemia, Bronchiectasis, Recurrent respiratory infections, Dec... |
ORPHA:1572 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Ambiguous genitalia, Vesicovaginal fistula, Adrenal insufficiency, Decreased circulating renin le... |
OMIM:201750 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Subvalvular aortic stenosis, Atrioventricular canal defect, Asplenia, Hepatomegaly, Abdominal sit... |
OMIM:306955 |
| Mast Cell Sarcoma |
|
Weight loss, Mastocytosis, Lymphadenopathy, Mediastinal lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:66661 |
| Castleman Disease |
|
Anemia, Restrictive cardiomyopathy, Weight loss, Jaundice, Generalized lymphadenopathy, Decreased... |
ORPHA:160 |
| Wolfram Syndrome, Mitochondrial Form |
|
Diabetes insipidus, Megaloblastic anemia, Sideroblastic anemia, Diabetes mellitus, Thrombocytopen... |
OMIM:598500 |
| Lethal Congenital Contracture Syndrome 2 |
|
Ventricular septal defect, Dilated cardiomyopathy, Skeletal muscle atrophy, Respiratory failure, ... |
OMIM:607598 |
| Perrault Syndrome 6 |
|
Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea... |
OMIM:617565 |
| Pulmonary Alveolar Microlithiasis |
|
Respiratory insufficiency, Testicular microlithiasis, Pneumothorax, Bronchiectasis, Oxygen desatu... |
ORPHA:60025 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Hypoventilation, Aspiration pneumonia, Respiratory distress, Apnea, Recurrent pneumonia, Abnormal... |
ORPHA:314655 |
| Lymphoproliferative Syndrome 2 |
|
Decreased circulating antibody level, Pancytopenia, Hepatosplenomegaly, Recurrent pneumonia, Lymp... |
OMIM:615122 |
| Mitochondrial Complex I Deficiency, Nuclear Type 2 |
|
Respiratory insufficiency, Apneic episodes in infancy, Apnea, Hypertrophic cardiomyopathy, Hyperc... |
OMIM:618222 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Hypermethioninemia, Methioninuria, Mitral valve prolapse, Hyperhomocystinemia, Hepatic steatosis,... |
OMIM:236200 |
| Mitochondrial Phosphate Carrier Deficiency |
|
Respiratory insufficiency, Hypertrophic cardiomyopathy |
OMIM:610773 |
| Hereditary Hemorrhagic Telangiectasia |
|
Retinal telangiectasia, Subarachnoid hemorrhage, Nephrolithiasis, Pulmonary embolism, Transient i... |
ORPHA:774 |
| Cyclic Neutropenia |
|
Respiratory tract infection, Enterocolitis, Peritonitis, Decreased eosinophil count, Lymphopenia,... |
ORPHA:2686 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory failure, Dyspnea, Respiratory distress |
ORPHA:2759 |
| Dk Phocomelia Syndrome |
|
Thrombocytopenia, Encephalocele |
OMIM:223340 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Hypereosinophilia, Thyroiditis, Corneal neovascularization, Failure to thrive, Autoimmune hemolyt... |
OMIM:617388 |
| Mucopolysaccharidosis, Type Vii |
|
Cardiomyopathy, Splenomegaly, Flexion contracture, Short stature, Dermatan sulfate excretion in u... |
OMIM:253220 |
| Atypical Werner Syndrome |
|
Abnormal testis morphology, Calf muscle hypertrophy, Hepatic steatosis, Neoplasm of the thyroid g... |
ORPHA:79474 |
| Intermediate Osteopetrosis |
|
Hypocalcemia, Thrombocytopenia, Anemia, Hepatosplenomegaly |
ORPHA:210110 |
| Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Contractures of the large joints, External genital hypoplasia, Elevated hepatic transaminase, Res... |
ORPHA:329178 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Chronic diarrhea, Diarrhea, B lymphocytopenia, Decreased circulating total IgM, Absent specific a... |
OMIM:102700 |
| Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Miscarriage, Drug-sensitive hemolytic anemi... |
ORPHA:2133 |
| Neuroleptic Malignant Syndrome |
|
Hypotension, Elevated circulating creatine kinase concentration, Hyponatremia, Dysphagia, Thrombo... |
ORPHA:94093 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Pulmonary embolism, Hypothyroidism, Anemia, Vomiting, Diarrhea, Hypoproteinemia, Growth delay, He... |
OMIM:226300 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... |
OMIM:603902 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Abnormal size of pituitary gland, Decreased response to growth hormone stimulation test, Decrease... |
ORPHA:293978 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Respiratory insufficiency, Unconjugated hyperbilirubinemia, Elevated hepatic transaminase, Hepati... |
OMIM:613658 |
| 46,Xx Sex Reversal 1 |
|
Sex reversal, Bicornuate uterus, True hermaphroditism, Azoospermia, Hypospadias, Elevated circula... |
OMIM:400045 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hypermethioninemia, Muscular dystrophy, Hyperhomocystinemia, Elevated circulating creatine kinase... |
ORPHA:88618 |
| Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Hypertrophic cardiomyopathy |
OMIM:612989 |
| Tetraamelia Syndrome 1 |
|
Urethral atresia, Asplenia, Adrenal gland agenesis, Absent external genitalia, Renal agenesis, Co... |
OMIM:273395 |
| Agnathia-Otocephaly Complex |
|
Tracheomalacia, Secundum atrial septal defect, Situs inversus totalis, Respiratory distress |
OMIM:202650 |
| Gaucher Disease, Type Ii |
|
Gastroesophageal reflux, Anemia, Recurrent aspiration pneumonia, Death in infancy, Failure to thr... |
OMIM:230900 |
| Hsd10 Mitochondrial Disease |
|
Hypertrophic cardiomyopathy, Elevated circulating tiglylglycine concentration |
OMIM:300438 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Hypoventilation, Flexion contracture,... |
ORPHA:258 |
| Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Hyperalaninemia, Hypertrophic cardiomyopathy, Dyspnea, Abnormal heart morphology, Palpitations |
OMIM:618250 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Short stature, Bicornuate uterus, Renal agenesis, Azoospermia, Unilateral renal agenesis, Ectopic... |
OMIM:601076 |
| Microlissencephaly-Micromelia Syndrome |
|
Respiratory distress, Hypoparathyroidism, Fetal pyelectasis, Abnormal calcium-phosphate regulatin... |
ORPHA:50810 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Anemia, Pancytopenia, Failure to thrive, Thrombocytopenia, Hepatomegaly, Hypocalcemia, Splenomegaly |
OMIM:259700 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Leukopenia, Small for gestational age, Elevated circulating creatine kinase concentration, Abnorm... |
OMIM:301056 |
| Hellp Syndrome |
|
Hypotension, Vomiting, Hemolytic anemia, Pulmonary edema, Cerebral hemorrhage, Microangiopathic h... |
ORPHA:244242 |
| Hypophosphatasia |
|
Anemia, Failure to thrive in infancy, Hypercalcemia, Emphysema |
ORPHA:436 |
| Esophageal Atresia |
|
Gastroesophageal reflux, Abnormal external genitalia, Vomiting, Ventricular septal defect, Aspira... |
ORPHA:1199 |
| Ciliary Dyskinesia, Primary, 20 |
|
Bronchiectasis, Recurrent sinusitis, Recurrent pneumonia, Recurrent respiratory infections, Atele... |
OMIM:615067 |
| Cyclic Vomiting Syndrome |
|
Nausea, Vomiting, Growth delay, Cardiomyopathy |
OMIM:500007 |
| Diamond-Blackfan Anemia 10 |
|
Renal duplication, Anemia, Ventricular septal defect, Short stature, Morgagni diaphragmatic herni... |
OMIM:613309 |
| Phosphoglycerate Dehydrogenase Deficiency |
|
Decreased testicular size, Thrombocytopenia, Megaloblastic anemia |
OMIM:601815 |
| Meckel Syndrome 14 |
|
Ambiguous genitalia, Hepatic fibrosis, Pneumothorax, Polycystic kidney dysplasia, Cardiorespirato... |
OMIM:619879 |
| Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:616435 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Orthostatic hypotension due to autonomic dysfunction, Urinary incontinence, Impotence, Diarrhea, ... |
OMIM:105210 |
| Tuberous Sclerosis Complex |
|
Hepatic cysts, Parathyroid adenoma, Renal angiomyolipoma, Pancreatic endocrine tumor, Stage 5 chr... |
ORPHA:805 |
| Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Osteomyelitis, Skin rash, Neutrophilia, Stomatitis, Respiratory distress, Pustule, Elevated circu... |
OMIM:612852 |
| Pelger-Huet Anomaly |
|
Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Failure to thrive, Giant plate... |
OMIM:169400 |
| Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
3-Methylglutaconic aciduria, Hypertrophic cardiomyopathy, Delayed puberty, Cryptorchidism, Lower ... |
ORPHA:496790 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Small for gestational age, Hyperbilirubinemia, Erythroid hyperplasia, Reticuloc... |
OMIM:224120 |
| Arterial Tortuosity Syndrome |
|
Cardiac arrest, Respiratory distress, Congestive heart failure, Hypertension, Cardiorespiratory a... |
ORPHA:3342 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Hypothyroidism, Elevated circulating acylcarnitine concentration, Premature thelarche, Torsade de... |
OMIM:616878 |
| Odontochondrodysplasia 1 |
|
Short stature, Polycystic kidney dysplasia, Respiratory distress, Mesomelic short stature, Nephro... |
OMIM:184260 |
| Von Willebrand Disease, Type 1 |
|
Prolonged bleeding time, Impaired platelet aggregation |
OMIM:193400 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Hypertrophic cardiomyopathy, Pulmonic stenosis, Short stature, Cryptorchidism |
ORPHA:2701 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Ambiguous genitalia, Abnormal testis morphology, Abnormal cardiac septum morphology, Hypertrophic... |
ORPHA:2556 |
| 46,Xy Sex Reversal 3 |
|
Ambiguous genitalia, Sex reversal, Penoscrotal hypospadias, Elevated circulating luteinizing horm... |
OMIM:612965 |
| Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress |
ORPHA:261304 |
| Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Abnormality of the pancreas, Bifid scrotum, Hypertension, Respiratory distress, Prominent scrotal... |
ORPHA:1555 |
| Episodic Ataxia Type 1 |
|
Respiratory distress, Calf muscle hypertrophy |
ORPHA:37612 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Episodic respiratory distress, Limb-girdle muscle weakness, Muscle fiber atrophy, Central sleep a... |
ORPHA:98914 |
| Congenital Myasthenic Syndrome |
|
Episodic respiratory distress, Limb-girdle muscle weakness, Muscle fiber atrophy, Central sleep a... |
ORPHA:590 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hypothyroidism, Hepatic fibrosis, Short stature, Shawl scrotum, Skeletal muscle fibrosis, Achille... |
OMIM:616263 |
| Aicardi-Goutieres Syndrome 1 |
|
Hypothyroidism, Diabetes insipidus, Short stature, Petechiae, Chilblains, Vasculitis, Purpura, El... |
OMIM:225750 |
| Immune Thrombocytopenia |
|
Epistaxis, Gastrointestinal hemorrhage, Thrombocytopenia, Cerebral hemorrhage |
ORPHA:3002 |
| Exstrophy-Epispadias Complex |
|
Absent penis, Renal dysplasia, Bladder fistula, Male sexual dysfunction, Abnormality of the urete... |
ORPHA:322 |
| Noonan Syndrome 4 |
|
Ventricular septal defect, Short stature, Pulmonic stenosis, Abnormal bleeding, Atrial septal def... |
OMIM:610733 |
| 46,Xy Sex Reversal 4 |
|
Sex reversal, Renal dysplasia, Hypoplastic labia majora, Agonadism, Recurrent otitis media, Incre... |
OMIM:154230 |
| Kikuchi-Fujimoto Disease |
|
Abnormal lymph node morphology, Leukopenia, Anemia, Abnormal pulmonary interstitial morphology, M... |
ORPHA:50918 |
| Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities |
|
Gastroesophageal reflux, Failure to thrive, Thrombocytopenia, Chronic constipation |
OMIM:616577 |
| Hermansky-Pudlak Syndrome 6 |
|
Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Abnormal platelet granules |
OMIM:614075 |
| Marburg Hemorrhagic Fever |
|
Hypotension, Bloody diarrhea, Diarrhea, Reticulocytosis, Elevated circulating creatine kinase con... |
ORPHA:99826 |
| Catastrophic Antiphospholipid Syndrome |
|
Pulmonary arterial hypertension, Pulmonary embolism, Arterial occlusion, Transient ischemic attac... |
ORPHA:464343 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Jaundice, Erythroid hyperplasia, Reti... |
OMIM:266200 |
| Sheehan Syndrome |
|
Abnormal size of pituitary gland, Gonadotropin deficiency, Decreased serum estradiol, Impotence, ... |
ORPHA:91355 |
| Hermansky-Pudlak Syndrome 1 |
|
Bruising susceptibility, Ecchymosis, Epistaxis, Restrictive ventilatory defect, Gingival bleeding... |
OMIM:203300 |
| Cornelia De Lange Syndrome 2 |
|
Gastroesophageal reflux, Short stature, Hypertrophic cardiomyopathy, Intrauterine growth retardat... |
OMIM:300590 |
| Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Nemaline bodies, Flexion contracture, Myopathy, Cardiomyopathy |
OMIM:616549 |
| Neuromuscular Oculoauditory Syndrome |
|
Knee flexion contracture, Wrist flexion contracture, Calf muscle hypertrophy, Aspiration, Respira... |
OMIM:618733 |
| Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Absence of pubertal development, Hypergonadotropic hypogonadism, Primar... |
OMIM:618078 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Supracardiac total anomalous pulmonary venous connection, Hepatomegaly, Tricuspid regurgitation, ... |
ORPHA:99125 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hypothyroidism, Cerebral vasculitis, Hashimoto thyroiditis, Leukocytosis, Hyponatremia, Thrombocy... |
ORPHA:83601 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Lymphadenitis, Crohn's disease, Hemolytic anemia, Ulcerative colitis, Lymphopenia, Hepatosplenome... |
OMIM:618935 |
| Xp21 Deletion Syndrome |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:261476 |
| Thrombocytopenia 5 |
|
Epistaxis, Anemia, Thrombocytopenia, Neutropenia |
OMIM:616216 |
| 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Vomiting, Ketonuria, Acute hyperammonemia, 3-hydroxyisovaleric aciduria, Apnea, Elevated urinary ... |
OMIM:210200 |
| Meningioma |
|
Enlarged pituitary gland, Decreased circulating follicle stimulating hormone concentration, Incre... |
ORPHA:2495 |
| Farber Disease |
|
Respiratory insufficiency, Hepatic fibrosis, Flexion contracture, Hepatic failure, Anemia, Short ... |
ORPHA:333 |
| Werner Syndrome |
|
Hypertriglyceridemia, Elevated hemoglobin A1c |
OMIM:277700 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Anemia, Hyperbilirubinemia, Extramedullary hematopoiesis, Pancytopenia, Hepatosplenomegaly, Hypoc... |
OMIM:259720 |
| Infantile Liver Failure Syndrome 1 |
|
Anemia, Elevated hepatic transaminase, Hepatic steatosis, Macrocytic anemia, Hepatomegaly, Acute ... |
OMIM:615438 |
| Ear-Patella-Short Stature Syndrome |
|
Camptodactyly of finger, Hypoplastic labia minora, Hypoplasia of penis, Breast aplasia, Epispadia... |
ORPHA:2554 |
| Sea-Blue Histiocytosis |
|
Sea-blue histiocytosis, Hepatomegaly, Mediastinal lymphadenopathy, Thrombocytopenia, Splenomegaly |
ORPHA:158029 |
| Omenn Syndrome |
|
Hypothyroidism, Anemia, Chronic diarrhea, Thyroiditis, Failure to thrive, Lymphadenopathy, Eosino... |
ORPHA:39041 |
| Behçet Disease |
|
Glomerulopathy, Keratoconjunctivitis sicca, Pericarditis, Myositis, Retrobulbar optic neuritis, P... |
ORPHA:117 |
| Hypoplasminogenemia |
|
Abnormal fallopian tube morphology, Periodontitis, Abnormality of the ovary, Cervicitis, Decrease... |
ORPHA:722 |
| Tako-Tsubo Cardiomyopathy |
|
Hypotension, Coronary artery stenosis, Ventricular arrhythmia, Cardiogenic shock, Angina pectoris... |
ORPHA:66529 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Respiratory insufficiency, Anemia, Rhizomelia, Diarrhea, Atrial septal defect, Hypertrophic cardi... |
ORPHA:1842 |
| Leopard Syndrome 1 |
|
Subvalvular aortic stenosis, Third degree atrioventricular block, Short stature, Aplasia of the o... |
OMIM:151100 |
| Adams-Oliver Syndrome |
|
Pulmonary arterial hypertension, Leukopenia, Cirrhosis, Encephalocele, Failure to thrive, Thrombo... |
ORPHA:974 |
| Bronchogenic Cyst |
|
Abnormal pleura morphology, Pulmonary cyst, Abnormality of the peritoneum, Dysphagia, Bronchogeni... |
ORPHA:2357 |
| Naxos Disease |
|
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Abnormal morph... |
OMIM:601214 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Patent foramen ovale, Restrictive cardiomyopathy, Flexion contracture, Camptodactyly, Mitral regu... |
ORPHA:88630 |
| Homozygous Familial Hypercholesterolemia |
|
Renal steatosis, Hypercholesterolemia, Sudden cardiac death, Abnormal tendon morphology, Tendon x... |
ORPHA:391665 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypocalcemia, Hypertriglyceridemia, Hypomagnesemia, Hypoalbuminemia |
OMIM:618183 |
| Satoyoshi Syndrome |
|
Diarrhea, Short stature, Mildly elevated creatine kinase, Skeletal muscle hypertrophy, Amenorrhea... |
OMIM:600705 |
| Roch-Leri Mesosomatous Lipomatosis |
|
Thrombocytopenia |
ORPHA:529 |
| Cryptococcosis |
|
Cirrhosis, Vomiting, Osteomyelitis, Prostatitis, Lymphoid leukemia, Respiratory distress, Pleural... |
ORPHA:1546 |
| Stevens-Johnson Syndrome |
|
Sudden cardiac death, Anemia, Abnormal pleura morphology, Diarrhea, Weight loss, Abnormality of n... |
ORPHA:36426 |
| Absence Of The Pulmonary Artery |
|
Systolic heart murmur, Truncus arteriosus, Bronchiectasis, Abnormal cardiac septum morphology, No... |
ORPHA:980 |
| Idiopathic Aplastic Anemia |
|
Retinal hemorrhage, Anemia, Reticulocytopenia, Pancytopenia, Epistaxis, Bone marrow hypocellulari... |
ORPHA:88 |
| Alg3-Cdg |
|
Neural tube defect, Macroglossia, Decreased liver function, Abnormality of the endocrine system, ... |
ORPHA:79321 |
| 46,Xx Ovotesticular Disorder Of Sex Development |
|
Urogenital sinus anomaly, Decreased fertility, Ambiguous genitalia, Bifid scrotum, Abnormal male ... |
ORPHA:2138 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Flexion contracture, Ventricular septal defect, Pleural effusion, Hypertrophic cardiomyopathy, Hy... |
OMIM:616897 |
| Systemic-Onset Juvenile Idiopathic Arthritis |
|
Pleural effusion, Pericarditis, Lymphadenopathy, Elevated circulating C-reactive protein concentr... |
ORPHA:85414 |
| Osteootohepatoenteric Syndrome |
|
Hepatic fibrosis, Grade II vesicoureteral reflux, Microvesicular hepatic steatosis, Prolonged neo... |
OMIM:619377 |
| Gm1 Gangliosidosis |
|
Camptodactyly of finger, Gastroesophageal reflux, Aplasia/Hypoplasia of the abdominal wall muscul... |
ORPHA:354 |
| Hyperglycinemia, Lactic Acidosis, And Seizures |
|
Respiratory insufficiency, Hypertrophic cardiomyopathy, Apnea, Joint contracture |
OMIM:614462 |
| Caroli Syndrome |
|
Cholangiocarcinoma, Hepatomegaly, Hematemesis, Abnormality of the ductus choledochus, Thrombocyto... |
ORPHA:480520 |
| Tetrasomy 5P |
|
Pulmonary arterial hypertension, Aplasia/Hypoplasia of the abdominal wall musculature, Heart murm... |
ORPHA:3309 |
| Aneurysm-Osteoarthritis Syndrome |
|
Camptodactyly of finger, Osteoarthritis, Left ventricular hypertrophy, Osteoarthritis of the smal... |
ORPHA:284984 |
| Zika Virus Disease |
|
Thrombocytopenia, Vomiting, Increased circulating IgM level, Miscarriage |
ORPHA:448237 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Thrombocytopenia, Hemolytic anemia, Lymphopenia, Colitis |
OMIM:616744 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Bloody diarrhea, Vomiting, Diarrhea, Unconjugated hyperbilirubinemia, Hypokalemia, Microangiopath... |
ORPHA:90038 |
| D-Bifunctional Protein Deficiency |
|
Decreased muscle mass, Very long chain fatty acid accumulation, Increased circulating very long-c... |
OMIM:261515 |
| Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Pulmonary embolism, Purpura, Subcutaneous hemorrhage |
ORPHA:743 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Anemia, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Splenomegaly |
OMIM:611490 |
| 46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome |
|
Increased size of the clitoris, Ambiguous genitalia, female, Abnormality of the ovary, Abnormalit... |
ORPHA:2975 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Hyperlipidemia |
ORPHA:2089 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Renal tubular atrophy, Nephrotic syndrome, Respiratory distress, Decreased glomerular filtration ... |
OMIM:614748 |
| Lumbar Syndrome |
|
Vesicoureteral reflux, Renal duplication, Ambiguous genitalia, Myelomeningocele, Bifid scrotum, S... |
ORPHA:83628 |
| Seckel Syndrome 7 |
|
Central hypothyroidism, Severe short stature, Primary amenorrhea, Intrauterine growth retardation... |
OMIM:614851 |
| Smith-Kingsmore Syndrome |
|
Large for gestational age, Decreased circulating IgA level, Cryptorchidism, Thrombocytopenia, Umb... |
OMIM:616638 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Telangiectasia, Generalized amyotrophy, Hypertrophic cardiomyopathy, Hepatomegaly, Telangiectasia... |
ORPHA:79279 |
| Hereditary Spherocytosis |
|
Increased mean corpuscular hemoglobin concentration, Splenomegaly, Restrictive cardiomyopathy, Sp... |
ORPHA:822 |
| Gapo Syndrome |
|
Oligospermia, Dysmenorrhea, Amenorrhea, Hypogonadism |
ORPHA:2067 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Bloody diarrhea, Diarrhea, Hyponatremia, Thrombocytopenia, Pneumonia, Acute colitis, Hypertensive... |
ORPHA:544482 |
| Mucopolysaccharidosis, Type Vi |
|
Pulmonary arterial hypertension, Cardiomyopathy, Flexion contracture, Pulmonary insufficiency, Sh... |
OMIM:253200 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Hypothyroidism, Hypogonadism, Adrenal insufficiency, Decreased transferrin saturation, Azoospermi... |
ORPHA:300298 |
| Loeys-Dietz Syndrome 3 |
|
Ventricular hypertrophy, Pneumothorax, Eosinophilic infiltration of the esophagus, Hip osteoarthr... |
OMIM:613795 |
| Biotinidase Deficiency |
|
Conjunctivitis, Skin rash, Respiratory distress, Organic aciduria, Apnea, Hyperammonemia, Myelopa... |
ORPHA:79241 |
| Martsolf Syndrome 1 |
|
Short stature, Cardiac arrest, Congestive heart failure, Cryptorchidism, Hypogonadotropic hypogon... |
OMIM:212720 |
| Cardiofaciocutaneous Syndrome 3 |
|
Hypertrophic cardiomyopathy, Pulmonic stenosis, Atrial septal defect, Ventricular septal defect |
OMIM:615279 |
| Mgat2-Cdg |
|
Gastroesophageal reflux, Ventricular septal defect, Reflex asystolic syncope, Abnormal bleeding, ... |
ORPHA:79329 |
| Choanal Atresia |
|
Abnormal nasal mucus secretion, Respiratory distress, Chronic sinusitis, Upper airway obstruction... |
ORPHA:137914 |
| Beckwith-Wiedemann Syndrome |
|
Hypothyroidism, Gonadoblastoma, Elevated circulating alpha-fetoprotein concentration, Hepatoblast... |
ORPHA:116 |
| Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Flexion contracture, Respiratory distress |
ORPHA:544503 |
| Chediak-Higashi Syndrome |
|
Leukopenia, Anemia, Spontaneous, recurrent epistaxis, Jaundice, Giant neutrophil granules, Lympha... |
OMIM:214500 |
| Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Pulmonary embolism, Purpura |
ORPHA:745 |
| Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Dyspnea, Growth delay, Respiratory failure, Clitoral hypertrophy |
ORPHA:2707 |
| Testicular Germ Cell Tumor |
|
Azoospermia, Elevated circulating alpha-fetoprotein concentration |
OMIM:273300 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Short stature, Abnormality of thyroid physiology, Renal dysplasia, Unilateral breast hypoplasia, ... |
OMIM:300968 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Hypertension, Congestive heart failure, Dilated cardiomyopathy, Myocardial infarction, Hypophosph... |
OMIM:208000 |
| Kniest Dysplasia |
|
Hip contracture, Rhizomelia, Respiratory distress, Recurrent otitis media, Tracheomalacia, Dispro... |
OMIM:156550 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Anemia, Large for gestational age, Failure to thrive, Bone marrow hypocellularity, Thrombocytopen... |
OMIM:614520 |
| Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel... |
ORPHA:521 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Flexion contracture, Short stature, Decreased testicular size, Azotemia, Hepatic steatosis, Hypop... |
OMIM:619321 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anemia, Microangiopathic hemolytic anemia, Hypertension, Increased blood urea nitrogen, Elevated ... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anemia, Microangiopathic hemolytic anemia, Hypertension, Increased blood urea nitrogen, Elevated ... |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anemia, Microangiopathic hemolytic anemia, Hypertension, Increased blood urea nitrogen, Elevated ... |
OMIM:612926 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Congenital muscular dystrophy, Reduced muscle fiber alpha dystroglycan, Macroglossia, Elevated ci... |
ORPHA:370959 |
| Familial Mediterranean Fever |
|
Vomiting, Crohn's disease, Diarrhea, Pleuritis, Chronic constipation, Neutrophilia, Pleural effus... |
OMIM:249100 |
| Leprechaunism |
|
Central hypothyroidism, Hyperinsulinemia, Hyperaldosteronism, Clitoral hypertrophy, Enlarged kidn... |
ORPHA:508 |
| Thyrocerebroretinal Syndrome |
|
Thrombocytopenia, Goiter |
OMIM:274240 |
| Cardiomyopathy, Dilated, 2E |
|
Ebstein anomaly of the tricuspid valve, Reduced systolic function, Dilated cardiomyopathy |
OMIM:619492 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
T lymphocytopenia, Bronchiectasis, Diarrhea, Hepatosplenomegaly, Thrombocytopenia, Enterocolitis,... |
ORPHA:391487 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Elevated hepatic transaminase, Recurrent sinusitis, Eczema, Hepatosplenomegaly, Bone marrow hypoc... |
OMIM:615688 |
| Lymphatic Malformation 7 |
|
Pericardial effusion, Respiratory distress, Atrial septal defect, Pleural effusion, Chylothorax |
OMIM:617300 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Anemia, Congenital thrombocytopenia, Hydrocele testis, Thrombocytopenia, Neutropenia |
OMIM:616738 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Cholangiocarcinoma, Pulmonary hypoplasia, Hepatosplenomegaly, Hepatoblastoma, Hyponatremia, Throm... |
ORPHA:731 |
| Sarcoidosis |
|
Abnormal lymph node morphology, Hypothyroidism, Pneumothorax, Bronchiectasis, Heart block, Pleura... |
ORPHA:797 |
| Infantile Spasms-Broad Thumbs Syndrome |
|
Hypertrophic cardiomyopathy, Vaginal hernia |
ORPHA:3173 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anemia, Microangiopathic hemolytic anemia, Hypertension, Increased blood urea nitrogen, Elevated ... |
OMIM:612924 |
| Spastic Paraplegia 26, Autosomal Recessive |
|
Decreased serum testosterone concentration |
OMIM:609195 |
| Nasolacrimal Duct Cyst |
|
Abnormal breath sound, Intercostal retractions, Paroxysmal dyspnea, Stridor, Episodic respiratory... |
ORPHA:141083 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Splenomegaly, Normocytic anemia, Hyperbilirubinemia, Jaundice, Reticulocytosis, Cholecystitis, No... |
OMIM:235700 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Abnormal lymph node morphology, Abnormality of thrombocytes, Anemia, Hepatosplenomegaly, Epistaxi... |
OMIM:612840 |
| Odontochondrodysplasia |
|
Respiratory distress |
ORPHA:166272 |
| Refsum Disease |
|
Respiratory insufficiency, Heart block, Skeletal muscle atrophy, Renal insufficiency, Splenomegal... |
ORPHA:773 |
| Hughes-Stovin Syndrome |
|
Pulmonary arterial hypertension, Pulmonary embolism, Cardiorespiratory arrest, Cough, Dyspnea, Va... |
ORPHA:228116 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Ureteral agenesis, Short stature, Bilateral renal agenesis, Arrhinencephaly, Vaginal atresia, Ren... |
OMIM:617914 |
| Meier-Gorlin Syndrome 1 |
|
Gastroesophageal reflux, Flexion contracture, Birth length less than 3rd percentile, Joint contra... |
OMIM:224690 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Tubulointerstitial nephritis, Aminoaciduria, Microvesicular hepatic steatosis, Rhabdomyolysis, Pe... |
OMIM:124000 |
| Hardikar Syndrome |
|
Portal inflammation, Hepatosplenomegaly, Pulmonary artery stenosis, Hepatomegaly, Hematemesis, Th... |
OMIM:301068 |
| Chitayat Syndrome |
|
Tracheomalacia, Respiratory distress |
OMIM:617180 |
| Pediatric Systemic Lupus Erythematosus |
|
Leukopenia, Vomiting, Diarrhea, Microangiopathic hemolytic anemia, Raynaud phenomenon, Lymphopeni... |
ORPHA:93552 |
| Yellow Fever |
|
Vomiting, Pancreatic hyperplasia, Reduced left ventricular ejection fraction, Diarrhea, Hyperbili... |
ORPHA:99829 |
| Fructose Intolerance, Hereditary |
|
Transient aminoaciduria, Proximal tubulopathy, Hyperuricemia, Cirrhosis, Vomiting, Glycosuria, Hy... |
OMIM:229600 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anemia, Microangiopathic hemolytic anemia, Hypertension, Increased blood urea nitrogen, Elevated ... |
OMIM:612925 |
| 8P23.1 Microdeletion Syndrome |
|
Atrioventricular canal defect, Short stature, Abnormal cardiac septum morphology, Hypoplastic lef... |
ORPHA:251071 |
| Anemia, Sideroblastic, 5 |
|
Anemia, Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Neutropenia |
OMIM:619523 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Cholelithiasis, Pancreatic hypoplasia, Biliary hyperplasia, B lymphocytopenia, Perimembranous ven... |
ORPHA:83617 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Thrombocytopenia, Increased mean corpuscular volume |
OMIM:252270 |
| Pseudoxanthoma Elasticum |
|
Sudden cardiac death, Hypothyroidism, Retinal hemorrhage, Restrictive cardiomyopathy, Skin rash, ... |
ORPHA:758 |
| Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Cirrhosis, Diarrhea, Jaundice, Portal inflammation, Portal fibrosis, Intrahepatic cholestasis, Bi... |
OMIM:602347 |
| Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Situs inversus totalis, Hypoplasia of penis, Respiratory distress |
ORPHA:990 |
| 1P36 Deletion Syndrome |
|
Camptodactyly of finger, Hypothyroidism, Abnormal cardiac septum morphology, Hepatic steatosis, D... |
ORPHA:1606 |
| Noonan Syndrome 6 |
|
Short stature, Hypertrophic cardiomyopathy, Juvenile myelomonocytic leukemia, Growth delay, Crypt... |
OMIM:613224 |
| Alpha-Thalassemia |
|
Anemia, Splenomegaly, Hemolytic anemia, Hypersplenism, Jaundice, Abnormal hemoglobin, Cholelithia... |
ORPHA:846 |
| Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Gastroesophageal reflux, Hyperalaninemia, Renal tubular acidosis, Type 2 muscle fiber predominanc... |
OMIM:615471 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Leukopenia, Cirrhosis, Anemia, Hepatic necrosis, Interstitial pneumonitis, Lymphopenia, Bone marr... |
OMIM:127550 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Limb-girdle muscle weakness, Myopathy, Cardiomyopathy |
ORPHA:1215 |
| Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Cerebral hemorrhage, Increased hematocrit, Hypertension, Myocardia... |
OMIM:133100 |
| Meckel Syndrome 12 |
|
Bilateral renal agenesis, Arrhinencephaly, Ureteral hypoplasia, Arthrogryposis multiplex congenit... |
OMIM:616258 |
| Caroli Disease |
|
Biliary cirrhosis, Cholangiocarcinoma, Hepatomegaly, Splenomegaly, Conjugated hyperbilirubinemia,... |
ORPHA:53035 |
| Hemochromatosis Type 4 |
|
Hepatic steatosis, Cirrhosis, Increased circulating ferritin concentration, Congenital hepatic fi... |
ORPHA:139491 |
| Agammaglobulinemia 9, Autosomal Recessive |
|
Failure to thrive, Thrombocytopenia, Agammaglobulinemia, Absent circulating B cells |
OMIM:619693 |
| Fanconi Anemia |
|
Abnormal testis morphology, Abnormal cardiac septum morphology, Hypertrophic cardiomyopathy, Abno... |
ORPHA:84 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Abnormal left ventricular outflow tract morphology, Premature atr... |
ORPHA:216694 |
| Isolated Complex I Deficiency |
|
Respiratory insufficiency, Proximal tubulopathy, Vomiting, Abnormal mitochondria in muscle tissue... |
ORPHA:2609 |
| Leigh Syndrome |
|
Multiple joint contractures, Eczema, Lacticaciduria, Hypertrophic cardiomyopathy, Abnormal patter... |
ORPHA:506 |
| Mixed Connective Tissue Disease |
|
Pulmonary arterial hypertension, Leukopenia, Abnormal pulmonary interstitial morphology, Myocardi... |
ORPHA:809 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Leukopenia, Anemia, Reticulocytopenia, B lymphocytopenia, Noncompaction cardiomyopathy, Lymphopen... |
ORPHA:508542 |
| Japanese Encephalitis |
|
Vomiting, Diarrhea, Respiratory paralysis, Irregular respiration, Elbow flexion contracture, Neut... |
ORPHA:79139 |
| Combined Oxidative Phosphorylation Deficiency 5 |
|
Abnormal renal tubule morphology, Hyperammonemia, Growth delay, Hypertrophic cardiomyopathy |
OMIM:611719 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Neonatal respiratory distress, Hypertrophic cardiomyopathy, Hepatomegaly |
OMIM:619053 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Lymphadenopathy, Hepatomegaly, Thrombocytopenia, Pneumonia, Splenomegaly |
ORPHA:169090 |
| Primary Dystonia, Dyt4 Type |
|
Torticollis, Respiratory distress |
ORPHA:98805 |
| Fanconi Renotubular Syndrome 5 |
|
Hypophosphatemia, Lung adenocarcinoma, Hypertension, Emphysema, Hypophosphatemic rickets, Pulmona... |
OMIM:618913 |
| Hydatidiform Mole |
|
Anemia, Menometrorrhagia, Hyperthyroidism, Enlarged uterus |
ORPHA:99927 |
| Fanconi Anemia, Complementation Group B |
|
Hypogonadism, Death in infancy, Abnormal lung lobation, Thrombocytopenia, Hypergonadotropic hypog... |
OMIM:300514 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Abnormality of the pulmonary artery, Congestive heart failure, Emphysema, Intracranial hemorrhage... |
ORPHA:363618 |
| Schinzel-Giedion Syndrome |
|
Nephroblastoma, Central hypothyroidism, Myeloid leukemia, Neural tube defect, Camptodactyly, Macr... |
ORPHA:798 |
| Vaginal Atresia |
|
Imperforate hymen, Uterus didelphys, Bicornuate uterus, Transverse vaginal septum, Abnormality of... |
ORPHA:65681 |
| Gaucher Disease Type 3 |
|
Pulmonary arterial hypertension, Anemia, Abnormal pulmonary interstitial morphology, Increased ci... |
ORPHA:77261 |
| Noonan Syndrome 5 |
|
Short stature, Atrial septal defect, Hypertrophic cardiomyopathy, Cryptorchidism, Arrhythmia, Pul... |
OMIM:611553 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Ventricular septal defect, Hypertrophic cardiomyopathy, Cryptorchidism, Intrauterine growth retar... |
OMIM:612938 |
| Pseudo-Torch Syndrome 2 |
|
Cerebral hemorrhage, Pleural effusion, Thrombocytopenia, Hepatomegaly, Ascites, Bradycardia |
OMIM:617397 |
| Barth Syndrome |
|
Endocardial fibroelastosis, 3-Methylglutaconic aciduria, Skeletal myopathy, Congestive heart fail... |
OMIM:302060 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Respiratory tract infection, Chronic bronchitis, Bronchiectasis, Weight loss, Honeycomb lung, Emp... |
ORPHA:79127 |
| Lethal Acantholytic Erosive Disorder |
|
Impaired myocardial contractility, Camptodactyly of toe, Hypovolemic shock, Respiratory failure, ... |
ORPHA:158687 |
| Autoerythrocyte Sensitization Syndrome |
|
Impaired platelet adhesion, Thrombocytosis, Autoimmune thrombocytopenia |
ORPHA:324636 |
| Steinert Myotonic Dystrophy |
|
Respiratory insufficiency, Impotence, Diarrhea, Elevated hepatic transaminase, Secondary hyperpar... |
ORPHA:273 |
| Hermansky-Pudlak Syndrome 11 |
|
Impaired collagen-induced platelet aggregation, Reduced platelet dense granules |
OMIM:619172 |
| Heart Block, Congenital |
|
Myocardial fibrosis, Myocardial calcification, Mitral regurgitation, Atrioventricular block, Abse... |
OMIM:234700 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Vomiting, Diarrhea, Hypochromic microcytic anemia, Increased circulating ferritin concentration, ... |
ORPHA:3240 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Megaloblastic anemia, Jaundice, Pancytopenia, Hepatomegaly, Increased mean corpuscular volume, Th... |
OMIM:613839 |
| Chromosome 17Q12 Deletion Syndrome |
|
Unicornuate uterus, Aplasia of the vagina, Hypoplasia of the bladder, Multicystic kidney dysplasi... |
OMIM:614527 |
| Radio-Renal Syndrome |
|
Multicystic kidney dysplasia, Renal dysplasia, Renal hypoplasia/aplasia, Renal agenesis, Respirat... |
ORPHA:3015 |
| Pagod Syndrome |
|
Meningocele, Sudden cardiac death, Ambiguous genitalia, Multicystic kidney dysplasia, Encephaloce... |
ORPHA:991 |
| Thrombocytopenia 4 |
|
Thrombocytopenia, Abnormal platelet volume |
OMIM:612004 |
| Pseudo-Torch Syndrome 1 |
|
Jaundice, Failure to thrive, Hepatomegaly, Thrombocytopenia, Splenomegaly, Umbilical hernia |
OMIM:251290 |
| Birt-Hogg-Dubé Syndrome |
|
Pulmonary sequestration, Pneumothorax, Parathyroid adenoma, Emphysema, Medullary thyroid carcinoma |
ORPHA:122 |
| Prader-Willi Syndrome Due To Translocation |
|
Patent foramen ovale, Anterior pituitary hypoplasia, Decreased response to growth hormone stimula... |
ORPHA:177907 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Increased total bilirubin, Congestive heart failure, Autoimmune hemolytic anemia, Tachycardia, Sp... |
ORPHA:90037 |
| Syndromic Diarrhea |
|
Hypothyroidism, Hepatic fibrosis, Cirrhosis, Abnormality of iron homeostasis, Hypoplasia of the t... |
ORPHA:84064 |
| Isolated Biliary Atresia |
|
Hypothyroidism, Atretic gallbladder, Cirrhosis, Periportal fibrosis, Small for gestational age, J... |
ORPHA:30391 |
| Atrioventricular septal defect 3 |
|
Pulmonary arterial hypertension, Atrioventricular canal defect, Inlet ventricular septal defect, ... |
OMIM:600309 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Gastroesophageal reflux, Precocious puberty, Congenital megaureter, Restrictive cardiomyopathy, R... |
ORPHA:369837 |
| Zygomycosis |
|
Pneumothorax, Diarrhea, Pleural effusion, Pericarditis, Gastritis, Colitis, Hematemesis, Splenic ... |
ORPHA:73263 |
| Agel Amyloidosis |
|
Orthostatic hypotension due to autonomic dysfunction, Stage 5 chronic kidney disease, Facial pals... |
ORPHA:85448 |
| Hurler Syndrome |
|
Endocardial fibroelastosis, Cardiomyopathy, Flexion contracture, Short stature, Dermatan sulfate ... |
OMIM:607014 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Respiratory distress |
OMIM:617102 |
| Ciliary Dyskinesia, Primary, 1 |
|
Asplenia, Bronchiectasis, Recurrent bronchitis, Male infertility, Pneumonia, Atelectasis |
OMIM:244400 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Anemia, Death in infancy, Increased hepatic glycogen content, Elevated hepatic iron concentration... |
OMIM:614946 |
| Oromandibular Dystonia |
|
Torticollis, Respiratory distress |
ORPHA:93958 |
| Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Congenital diaphragmatic hernia, Respiratory distress |
OMIM:606164 |
| Generalized Arterial Calcification Of Infancy |
|
Pulmonary arterial hypertension, Ventricular hypertrophy, Retinal hemorrhage, Pancreatic calcific... |
ORPHA:51608 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Diarrhea, Keratoconjunctivitis sicca, Elevated hepatic transaminase, Pneumonia, Acute kidney inju... |
ORPHA:95455 |
| Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Respiratory distress, Atrial septal defect, Ventricular septal defect |
OMIM:610536 |
| Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Diabetes mellitus, Oligospermia, Breast hypoplasia, Clitoral hypoplasia |
OMIM:614813 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Ischemic stroke, Spontaneous, recurrent epistaxis, Fingerpad telangiectases, Hematemesis, Reduced... |
OMIM:187300 |
| Hurler Syndrome |
|
Camptodactyly of finger, Cardiomyopathy, Splenomegaly, Rhinitis, Short stature, Angina pectoris, ... |
ORPHA:93473 |
| Arboleda-Tham Syndrome |
|
Conjunctivitis, Gastroesophageal reflux, Upper limb amyotrophy, Ventricular septal defect, Recurr... |
OMIM:616268 |
| Ovarian Dysgenesis 3 |
|
Aplasia of the ovary, Female infertility, Delayed puberty, Elevated circulating luteinizing hormo... |
OMIM:614324 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Subvalvular aortic stenosis, Flexion contracture, Ischemic stroke, Elbow flexion contracture, Chr... |
OMIM:619503 |
| Primary Hyperoxaluria |
|
Elevated urine glycolate, Cardiomyopathy, Arterial occlusion, Calcium oxalate nephrolithiasis, St... |
ORPHA:416 |
| Familial Thrombocytosis |
|
Pulmonary arterial hypertension, Acute myeloid leukemia, Weight loss, Cerebral ischemia, Transien... |
ORPHA:71493 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Atrioventricular canal defect, Hepatosplenomegaly, Eosinophilia, Thrombocytopenia, Vesicoureteral... |
OMIM:274000 |
| Immunodeficiency 82 With Systemic Inflammation |
|
T lymphocytopenia, Bronchiectasis, Diarrhea, Gastritis, Colitis, Pneumonia, Hypernatremia, Spleno... |
OMIM:619381 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Impotence, Unconjugated hyperbilirubinemia, Decreased serum iron, Reticulocytosis, Hemosiderinuri... |
ORPHA:447 |
| Tracheobronchopathia Osteochondroplastica |
|
Bronchitis, Recurrent respiratory infections, Recurrent pneumonia, Esophagitis, Pneumonia, Atelec... |
ORPHA:3348 |
| Gm1-Gangliosidosis, Type I |
|
Splenomegaly, Abnormal heart valve morphology, Congestive heart failure, Dilated cardiomyopathy, ... |
OMIM:230500 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Limb hypertonia, Generalized amyotrophy, Skeletal muscle atrophy, Thrombocytopenia, Intrauterine ... |
OMIM:617710 |
| Spherocytosis, Type 1 |
|
Splenomegaly, Hemolytic anemia, Hyperbilirubinemia, Jaundice, Reticulocytosis, Cholelithiasis, Sp... |
OMIM:182900 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Cirrhosis, Pancytopenia, Testicular atrophy, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:613987 |
| Gaucher Disease |
|
Pulmonary arterial hypertension, Cirrhosis, Anemia, Abnormal pulmonary interstitial morphology, D... |
ORPHA:355 |
| Alternating Hemiplegia Of Childhood |
|
Abnormal T-wave, Vomiting, Diarrhea, Aspiration, Respiratory distress, Apnea, Facial hypotonia, C... |
ORPHA:2131 |
| Premature Ovarian Failure 3 |
|
Premature ovarian insufficiency, Hypoplasia of the uterus, Secondary amenorrhea |
OMIM:608996 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Respiratory insufficiency, 3-hydroxydicarboxylic aciduria, Hepatic failure, Hyperalaninemia, Vomi... |
OMIM:252010 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Abnormal cardiac septum morphology, Abnormality of the kidney, Axial malrotation of the kidney, A... |
ORPHA:3320 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Decreased fertility, Decreased circulating progesterone, Decreased serum estradiol, Streak ovary,... |
ORPHA:572333 |
| Whim Syndrome |
|
Lymphadenitis, Respiratory tract infection, Abnormality of neutrophil morphology, Bronchiectasis,... |
ORPHA:51636 |
| Joubert Syndrome 32 |
|
Hypertrophic cardiomyopathy |
OMIM:617757 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Pancreatic cysts, Hepatic fibrosis, Periportal fibrosis, Enlarged kidney, Pulmonary hypoplasia, H... |
OMIM:263200 |
| Restrictive Dermopathy 2 |
|
Gastroesophageal reflux, Intrauterine growth retardation, Respiratory distress |
OMIM:619793 |
| Multiple Myeloma |
|
Anemia, Weight loss, Decreased circulating antibody level, Pleural effusion, Lymphadenopathy, Hyp... |
ORPHA:29073 |
| Hyperparathyroidism, Neonatal Severe |
|
Anemia, Calcinosis, Hypophosphatemia, Elevated circulating parathyroid hormone level, Failure to ... |
OMIM:239200 |
| Rubinstein-Taybi Syndrome 1 |
|
Premature thelarche, Flexion contracture, Spina bifida occulta, Postnatal growth retardation, Pat... |
OMIM:180849 |
| Hsd10 Disease, Infantile Type |
|
Abnormal concentration of acylcarnitine in the urine, Abnormality of the lower urinary tract, Hyp... |
ORPHA:391428 |
| Hereditary Elliptocytosis |
|
Stomatocytosis, Splenomegaly, Congenital hemolytic anemia, Hemolytic anemia, Elliptocytosis, Hype... |
ORPHA:288 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Pneumothorax, Uterine rupture, Pulmonary bulla, Arterial rupture, Spontaneous pneumothorax, Pulmo... |
OMIM:130050 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly |
OMIM:617441 |
| Adnp Syndrome |
|
Urinary incontinence, Gastroesophageal reflux, Vomiting, Short stature, Recurrent urinary tract i... |
ORPHA:404448 |
| Infantile Krabbe Disease |
|
Gastroesophageal reflux, Vomiting, Respiratory distress, Abnormal heart rate variability, Respira... |
ORPHA:206436 |
| Costello Syndrome |
|
Gastroesophageal reflux, Thickened Achilles tendon, Ventricular septal defect, Short stature, Mit... |
ORPHA:3071 |
| Fanconi Anemia, Complementation Group A |
|
Anemia, Reticulocytopenia, Small for gestational age, Pancytopenia, Male infertility, Hypergonado... |
OMIM:227650 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
3-Methylglutaconic aciduria, Congestive heart failure, Increased hepatic glycogen content, Cardio... |
OMIM:619259 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Heinz bodies, Unconjugated hyperbilirubinemia, Jaundice, Fava bean-induced hemolytic anemia, Reti... |
OMIM:300908 |
| Deeah Syndrome |
|
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Decreased c... |
OMIM:619004 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Exercise-induced hemolysis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, He... |
OMIM:194380 |
| Nephrotic Syndrome, Type 21 |
|
Stage 5 chronic kidney disease, Podocyte foot process effacement, Steroid-resistant nephrotic syn... |
OMIM:618594 |
| Mastocytosis |
|
Hypotension, Diarrhea, Telangiectasia of the skin, Mastocytosis, Hypercalcemia, Hepatomegaly, Arr... |
ORPHA:98292 |
| Simpson-Golabi-Behmel Syndrome |
|
Camptodactyly of finger, Supernumerary nipple, Hepatoblastoma, Hepatomegaly, Splenomegaly, Nephro... |
ORPHA:373 |
| Neonatal Inflammatory Skin And Bowel Disease |
|
Recurrent bacterial skin infections, Bloody diarrhea, Left ventricular hypertrophy, Pustule, Psor... |
ORPHA:294023 |
| Pmm2-Cdg |
|
Multiple joint contractures, Pericardial effusion, Impaired neutrophil chemotaxis, Elevated hepat... |
ORPHA:79318 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Leukopenia, Pancytopenia, Bone marrow hypocellularity, Pulmonary fibrosis, Cryptorchidism, Thromb... |
OMIM:613990 |
| Sarcoidosis, Susceptibility To, 1 |
|
Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Weight loss, Bronchi... |
OMIM:181000 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Pancreatic cysts, Asplenia, Biliary cirrhosis, Hepatic fibrosis, Cirrhosis, Enlarged kidney, Poly... |
OMIM:208540 |
| Aregenerative Anemia |
|
Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Pancytopeni... |
ORPHA:101096 |
| Trichohepatoenteric Syndrome 1 |
|
Hypermethioninemia, Splenomegaly, Hepatic fibrosis, Abnormality of iron homeostasis, Cirrhosis, A... |
OMIM:222470 |
| Wolfram Syndrome 2 |
|
Impaired collagen-induced platelet aggregation, Decreased circulating antibody level |
OMIM:604928 |
| Spherocytosis, Type 2 |
|
Hemolytic anemia, Jaundice, Hyperbilirubinemia, Reticulocytosis, Splenomegaly, Acanthocytosis, Sp... |
OMIM:616649 |
| Aicardi-Goutieres Syndrome 5 |
|
Thrombocytopenia |
OMIM:612952 |
| Hermansky-Pudlak Syndrome |
|
Neutropenia, Abnormal bleeding, Bruising susceptibility, Epistaxis, Dyspnea, Gastrointestinal hem... |
ORPHA:79430 |
| Oeis Complex |
|
Absent scrotum, Myelomeningocele, Vesicovaginal fistula, Ambiguous genitalia, female, Hydroureter... |
OMIM:258040 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Vomiting, Increased mean platelet volume |
OMIM:300048 |
| Beare-Stevenson Cutis Gyrata Syndrome |
|
Bifid scrotum, Hypoplastic labia majora, Hypertension, Respiratory distress, Hypospadias, Promine... |
OMIM:123790 |
| Fanconi Anemia, Complementation Group F |
|
Leukopenia, Anemia, Decreased response to growth hormone stimulation test, Failure to thrive, Bon... |
OMIM:603467 |
| Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Impaired platelet aggregation |
OMIM:618372 |
| Nephrotic Syndrome, Type 8 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Thin glomerular ... |
OMIM:615244 |
| 22Q11.2 Deletion Syndrome |
|
Meningocele, Hypothyroidism, Hypoplasia of the thymus, Impaired T cell function, Hypoparathyroidi... |
ORPHA:567 |
| Spherocytosis, Type 4 |
|
Hemolytic anemia, Jaundice, Hyperbilirubinemia, Reticulocytosis, Splenomegaly, Spherocytosis |
OMIM:612653 |
| Developmental And Epileptic Encephalopathy 75 |
|
Decreased liver function, Prolonged neonatal jaundice, Cardiomyopathy |
OMIM:618437 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hypothyroidism, Precocious puberty, Pineal cyst, Eczema, Primary adrenal insufficiency, Testicula... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Hypothyroidism, Precocious puberty, Pineal cyst, Eczema, Primary adrenal insufficiency, Testicula... |
ORPHA:363958 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Atrioventricular canal defect, Short stature, Hydrometrocolpos, Respiratory distress, Vaginal atr... |
OMIM:617088 |
| Wiedemann-Rautenstrauch Syndrome |
|
Dilatation of renal calices, Camptodactyly of finger, Hepatic steatosis, Skeletal muscle hypertro... |
ORPHA:3455 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Anemia, Decreased circulating total IgM, Death in infancy, Recurrent pneumonia, Decreased circula... |
OMIM:612301 |
| Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Vomiting, Diarrhea, Pleuritis, Recurrent pharyngitis, Pericarditis, Lymphadenopathy, Elevated cir... |
ORPHA:32960 |
| Pulmonary Hypertension, Primary, 2 |
|
Pulmonary arterial hypertension, Increased pulmonary vascular resistance, Abnormally loud pulmoni... |
OMIM:615342 |
| Primary Sclerosing Cholangitis |
|
Spider hemangioma, Hepatocellular carcinoma, Cholangiocarcinoma, Hepatosplenomegaly, Pleural effu... |
ORPHA:171 |
| Plague |
|
Hypotension, Bloody diarrhea, Diarrhea, Inflammatory abnormality of the eye, Hepatomegaly, Hemate... |
ORPHA:707 |
| Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Hemolytic anemia, Jaundice, Hyperbilirubinemia, Reticulocytosis, Hepatomegaly, Sp... |
OMIM:185000 |
| Trichothiodystrophy |
|
Conjunctivitis, Increased mean corpuscular hemoglobin concentration, Anemia, Ventricular septal d... |
ORPHA:33364 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Anemia, Pancytopenia, Hepatosplenomegaly, Extramedullary hematopoiesis, Thrombocytopenia |
OMIM:259710 |
| Vici Syndrome |
|
Ureteral atresia, Renal tubular acidosis, Short stature, Cardiomyopathy |
ORPHA:1493 |
| Rift Valley Fever |
|
Retinal hemorrhage, Anemia, Hepatitis, Jaundice, Miscarriage, Increased circulating IgM level, He... |
ORPHA:319251 |
| 8Q24.3 Microdeletion Syndrome |
|
Atrioventricular canal defect, Truncus arteriosus, Spina bifida occulta, Dysphagia, Branchial cys... |
ORPHA:508488 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Histiocytoid cardiomyopathy, Ventricular septal defect, Short stature, Atrial septal defect, Cong... |
OMIM:309801 |
| Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Absent scrotum, Absence of labia majora, Hypoplastic labia minora, Decreased serum testosterone c... |
ORPHA:495875 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Aminoaciduria, B lymphocytopenia, Sideroblastic anemia, Hypochromic microcytic anemia, Schistocyt... |
OMIM:616084 |
| Letterer-Siwe Disease |
|
Anemia, Jaundice, Stomatitis, Hepatosplenomegaly, Thrombocytopenia, Neutropenia |
OMIM:246400 |
| Cimdag Syndrome |
|
Microvesicular hepatic steatosis, Cholelithiasis, Hypogonadism, Hepatomegaly |
OMIM:619273 |
| Mucopolysaccharidosis Type 2, Severe Form |
|
Camptodactyly of finger, Flexion contracture, Hepatosplenomegaly, Chronic diarrhea, Splenomegaly,... |
ORPHA:217085 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Decreased body weight, Chronic diarrhea, Chronic constipation, Decreased hemoglobin concentration... |
OMIM:619005 |
| Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Poikilocytosis, Epistaxis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthoc... |
OMIM:300367 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Pulmonary arterial hypertension, Splenomegaly, Hepatic fibrosis, Anemia, Abnormal pulmonary inter... |
ORPHA:2072 |
| Mucopolysaccharidosis Type 2, Attenuated Form |
|
Camptodactyly of finger, Flexion contracture, Hepatosplenomegaly, Chronic diarrhea, Splenomegaly,... |
ORPHA:217093 |
| Ataxia With Vitamin E Deficiency |
|
Hypertrophic cardiomyopathy, Skeletal muscle atrophy, Arrhythmia |
ORPHA:96 |
| Mucopolysaccharidosis Type 1 |
|
Splenomegaly, Abnormal tendon morphology, Short stature, Abnormal aortic valve morphology, Abnorm... |
ORPHA:579 |
| Congenital Disorder Of Deglycosylation 1 |
|
Chondroitin sulfate excretion in urine, 3-Methylglutaconic aciduria, Hyperalaninemia, Hepatic fib... |
OMIM:615273 |
| Fanconi Anemia, Complementation Group E |
|
Anemia, Reticulocytopenia, Small for gestational age, Pancytopenia, Hypergonadotropic hypogonadis... |
OMIM:600901 |
| Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Hepatic fibrosis, Pancytopenia, Bone marrow hypocellularity, Pulmonary fibrosis, Thrombocytopenia... |
OMIM:224230 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Nodular regenerative hyperplasia of liver, Decreased LDL cholesterol concentration, Microvesicula... |
ORPHA:404454 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hypercholesterolemia, Hyponatremia, Thrombocytopenia, Diabetes insipidus, Hypophosphatemia, Delay... |
ORPHA:534 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Anemia, Hypophosphatemia, Mildly elevated creatine kinase, Elevated circulating creatine kinase c... |
OMIM:619743 |
| Vexas Syndrome |
|
Thrombocytopenia, Elevated circulating C-reactive protein concentration, Macrocytic anemia, Arter... |
OMIM:301054 |
| Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Alpha-aminoadipic aciduria, Elevated urine acetoacetic acid level, 3-Methylglutaconic aciduria, P... |
OMIM:620089 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Respiratory distress, Rhizomelia, Stillbirth, Neonatal short-limb short stature |
OMIM:151210 |
| Thrombocytopenia, Paris-Trousseau Type |
|
Thrombocytopenia |
OMIM:188025 |
| Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Lymphadenopathy, Thrombocytopenia |
OMIM:612783 |
| Budd-Chiari Syndrome |
|
Cirrhosis, Weight loss, Jaundice, Cholecystitis, Intestinal obstruction, Hepatomegaly, Gastrointe... |
ORPHA:131 |
| Peutz-Jeghers Syndrome |
|
Bloody diarrhea, Uterine neoplasm, Neoplasm of the pancreas, Bile duct polyp, Biliary tract abnor... |
OMIM:175200 |
| Noonan Syndrome 2 |
|
Atrioventricular canal defect, Ventricular septal defect, Short stature, Leukemia, Mitral stenosi... |
OMIM:605275 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
3-Methylglutaconic aciduria, Hypoventilation, Hepatic failure, Microvesicular hepatic steatosis, ... |
OMIM:203700 |
| Visceral Steatosis, Congenital |
|
Renal steatosis, Jaundice, Abnormal bleeding, Hepatic steatosis, Myocardial steatosis, Hypocalcem... |
OMIM:228100 |
| Granulomatous Disease, Chronic, X-Linked |
|
Lymphadenitis, Liver abscess, Granulomatosis, Pleural effusion, Recurrent pneumonia, Lymphadenopa... |
OMIM:306400 |
| H Syndrome |
|
Hypertriglyceridemia |
ORPHA:168569 |
| Fanconi Anemia, Complementation Group C |
|
Anemia, Reticulocytopenia, Small for gestational age, Pancytopenia, Hypergonadotropic hypogonadis... |
OMIM:227645 |
| Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Abnormal renal tubular resorption, Sudden cardiac death, Hyperaldosteronism, Hypocalcemic tetany,... |
ORPHA:73224 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Knee flexion contracture, Vesicoureteral reflux, Cirrhosis, Flexion contracture, Hip contracture,... |
OMIM:300868 |
| Leopard Syndrome 2 |
|
Hypertrophic cardiomyopathy |
OMIM:611554 |
| Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Cirrhosis, Exertional dyspnea, Glycosuria, Hypertrophic cardiomyopathy, Dyspnea, Elevated hemoglo... |
OMIM:616539 |
| Acromegaly |
|
Impotence, Dysuria, Anterior hypopituitarism, Hypertension, Long penis, Macroglossia, Diabetes me... |
ORPHA:963 |
| Mucolipidosis Ii Alpha/Beta |
|
Camptodactyly, Hypertrophic cardiomyopathy, Hepatomegaly, Splenomegaly, Arthrogryposis multiplex ... |
OMIM:252500 |
| Methanol Poisoning |
|
Hyperlipidemia |
ORPHA:31825 |
| Robinow Syndrome |
|
External genital hypoplasia, Webbed penis, Hypoplastic labia majora, Decreased serum testosterone... |
ORPHA:97360 |
| Ulbright-Hodes Syndrome |
|
Respiratory failure, Pneumothorax, Birth length less than 3rd percentile, Enlarged labia minora, ... |
ORPHA:3404 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Pulmonary arterial hypertension, Leukopenia, Anemia, Elliptocytosis, Enlarged tonsils, Secondary ... |
ORPHA:2785 |
| Hoyeraal-Hreidarsson Syndrome |
|
Anemia, Failure to thrive, Bone marrow hypocellularity, Thrombocytopenia, Abnormal leukocyte morp... |
ORPHA:3322 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Irregular menstruation, Premature ovarian insufficiency, Increased circulating gonadotropin level... |
OMIM:110100 |
| Osteoglophonic Dysplasia |
|
Rhizomelia, Respiratory distress, Hypospadias, Cryptorchidism, Chordee |
OMIM:166250 |
| Hereditary Angioedema Type 1 |
|
Dyspnea, Inspiratory stridor, Respiratory distress, Hypotension |
ORPHA:100050 |
| Holocarboxylase Synthetase Deficiency |
|
Vomiting, Thrombocytopenia, Hyperammonemia |
OMIM:253270 |
| Noonan Syndrome 14 |
|
Short stature, Mitral valve prolapse, Bruising susceptibility, Lymphopenia, Aortic regurgitation,... |
OMIM:619745 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Pulmonary arterial hypertension, Hypothyroidism, Hepatic fibrosis, Anemia, Decreased circulating ... |
OMIM:620005 |
| Osteogenesis Imperfecta, Type X |
|
Rhizomelia, Short stature, Respiratory distress, Recurrent pneumonia, Chronic lung disease, Nephr... |
OMIM:613848 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Limb-girdle muscular dystrophy, Achalasia, Short stature, Elevated hepatic transaminase, Elevated... |
OMIM:615356 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hypokalemia, Respiratory distress, Apnea, Hypopnea, Hyponatremia, Neonatal respiratory distress |
OMIM:618426 |
| Short-Rib Thoracic Dysplasia 12 |
|
Neonatal death, Periportal fibrosis, Anencephaly, Pulmonary hypoplasia, Hepatomegaly, Ascites, Hy... |
OMIM:269860 |
| Pseudohypoparathyroidism Type 1A |
|
Abnormal platelet function |
ORPHA:79443 |
| Thrombocytopenia 1 |
|
Increased circulating IgE level, Epistaxis, Increased circulating IgA level, Congenital thrombocy... |
OMIM:313900 |
| Aicardi-Goutières Syndrome |
|
Hypothyroidism, Multiple joint contractures, Short stature, Chronic lymphatic leukemia, Arthritis... |
ORPHA:51 |
| Chanarin-Dorfman Syndrome |
|
Hepatic steatosis, Myopathy, Hepatomegaly |
OMIM:275630 |
| Mucopolysaccharidosis Type 2 |
|
Hip osteoarthritis, Hepatomegaly, Chronic diarrhea, Abnormal nasal mucus secretion, Splenomegaly,... |
ORPHA:580 |
| Spherocytosis, Type 5 |
|
Hemolytic anemia, Jaundice, Reticulocytosis, Abnormal platelet count, Abnormal leukocyte count, S... |
OMIM:612690 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Vomiting, Osteomyelitis, Ventricular septal defect, Heart murmur, Bifid scrotum, Bicuspid aortic ... |
OMIM:619475 |
| Nijmegen Breakage Syndrome |
|
T lymphocytopenia, B lymphocytopenia, Bronchiectasis, Premature ovarian insufficiency, Diarrhea, ... |
OMIM:251260 |
| Campomelic Dysplasia |
|
Tracheobronchomalacia, Spinal dysraphism, Sex reversal, Spina bifida, Respiratory distress, Apnea... |
OMIM:114290 |
| Somatomammotropinoma |
|
Increased circulating prolactin concentration, Impotence, Dysuria, Anterior hypopituitarism, Oste... |
ORPHA:314769 |
| Gm1 Gangliosidosis Type 1 |
|
Aspiration pneumonia, Macroglossia, Hepatosplenomegaly, Increased urinary galactosylated oligosac... |
ORPHA:79255 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Megaloblastic anemia, Cystathioninemia, Methylmalonic acidemia, Hyperhomocystinemia, Hypomethioni... |
OMIM:277400 |
| Bloom Syndrome |
|
Premature ovarian insufficiency, Azoospermia, Diabetes mellitus, Oligospermia, Male infertility |
ORPHA:125 |
| Sickle Cell Disease |
|
Hemolytic anemia, Priapism, Target cells, Jaundice, Splenic infarction, Increased red cell sickli... |
OMIM:603903 |
| Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Decreased response to growth hormone stimulation test, Short stature, Renal malrotation, Delayed ... |
OMIM:615866 |
| Cockayne Syndrome Type 3 |
|
Cardiomyopathy, Retinal hemorrhage, Flexion contracture, Gastroesophageal reflux, Urinary retenti... |
ORPHA:90324 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Inter... |
ORPHA:231154 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Facial hypotonia, Respiratory distress |
ORPHA:438216 |
| Glycogen Storage Disease Xii |
|
Reduced haptoglobin level, Splenomegaly, Anemia, Normocytic anemia, Hyperbilirubinemia, Jaundice,... |
OMIM:611881 |
| Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Intracranial hemorrhage, Neonatal alloimmune thrombocytopenia, Gastrointestinal hemorrhage, Subar... |
ORPHA:853 |
| Autosomal Dominant Hyper-Ige Syndrome |
|
Recurrent respiratory infections, Atelectasis, Eosinophilia, Increased circulating IgE level |
ORPHA:2314 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Hypertriglyceridemia |
ORPHA:536532 |
| Tufted Angioma |
|
Anemia, Thrombocytopenia |
ORPHA:1063 |
| Ramos-Arroyo Syndrome |
|
Chronic constipation, Respiratory distress, Atrial septal defect, Severe short stature, Xerostomi... |
ORPHA:1051 |
| Combined Deficiency Of Factor V And Factor Viii |
|
Hyperuricemia, Hyperlipidemia |
ORPHA:35909 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Refractory anemia |
OMIM:231095 |
| Friedreich Ataxia |
|
Urinary bladder sphincter dysfunction, Hand muscle atrophy, Diabetes mellitus, Dysphagia, Cardiom... |
ORPHA:95 |
| Pfeiffer Syndrome Type 3 |
|
Vesicoureteral reflux, Respiratory distress, Horseshoe kidney, Tracheomalacia, Hydronephrosis |
ORPHA:93260 |
| Braddock-Carey Syndrome 2 |
|
Thrombocytopenia |
OMIM:619981 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Anemia, Gastrointestinal telangiectasia, Retinal telangiectasia, Intestinal bleeding, Bone marrow... |
OMIM:612199 |
| Noonan Syndrome 7 |
|
Short stature, Impaired oropharyngeal swallow response, Atrial septal defect, Hypertrophic cardio... |
OMIM:613706 |
| Tick-Borne Encephalitis |
|
Leukopenia, Vomiting, Elevated circulating C-reactive protein concentration, Leukocytosis, Dyspha... |
ORPHA:297 |
| Noonan Syndrome |
|
Abnormal platelet function |
ORPHA:648 |
| Cartilage-Hair Hypoplasia |
|
Respiratory insufficiency, Aplasia/Hypoplasia of the abdominal wall musculature, Spinal dysraphis... |
ORPHA:175 |
| Auriculocondylar Syndrome |
|
Snoring, Obstructive sleep apnea, Respiratory distress |
ORPHA:137888 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Splenomegaly, Increased total iron binding capacity, Hyperglycinemia, Abnormality of the liver, J... |
ORPHA:309854 |
| Congenital Tracheal Stenosis |
|
Ventricular septal defect, Respiratory distress, Hypoplastic left heart, Upper airway obstruction... |
ORPHA:141127 |
| Williams Syndrome |
|
Sudden cardiac death, Hypothyroidism, Abnormal circulating lipid concentration, Precocious pubert... |
ORPHA:904 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory insufficiency, Multiple joint contractures, Repeated pneumothoraces, Torticollis, Mit... |
ORPHA:536467 |
| Myoectodermal Gonadal Dysgenesis Syndrome |
|
Diastasis recti, Short stature, Hypoplastic labia majora, Unilateral renal agenesis, Clitoral hyp... |
OMIM:618419 |
| African Trypanosomiasis |
|
Impotence, Diarrhea, Abnormality of circulating cortisol level, Hepatosplenomegaly, Pericarditis,... |
ORPHA:3385 |
| Johanson-Blizzard Syndrome |
|
Hypothyroidism, Urethrovaginal fistula, Septate vagina, Increased VLDL cholesterol concentration,... |
OMIM:243800 |
| Townes-Brocks Syndrome 2 |
|
Vesicoureteral reflux, Crossed fused renal ectopia, Spina bifida occulta, Hypospadias, Bifid uter... |
OMIM:617466 |
| Diamond-Blackfan Anemia 21 |
|
Anemia, Erythroid hypoplasia, Aortic regurgitation, Chronic diarrhea, Thrombocytopenia, Obesity |
OMIM:620072 |
| Lymphangioleiomyomatosis |
|
Pneumothorax, Abnormality of the lymphatic system, Emphysema, Lymphadenopathy, Chylothorax, Gastr... |
ORPHA:538 |
| Neu-Laxova Syndrome 1 |
|
Patent foramen ovale, Ventricular septal defect, Joint contracture of the hand, Spina bifida, Sho... |
OMIM:256520 |
| 16Q24.3 Microdeletion Syndrome |
|
Dilated cardiomyopathy, Mitral regurgitation, Cryptorchidism, Dysphagia, Increased mean corpuscul... |
ORPHA:261250 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Restrictive cardiomyopathy, Hydroureter, Renal cyst, Ureteral stenosis, Nephrocalcinosis, Hyperca... |
OMIM:615398 |
| Stüve-Wiedemann Syndrome |
|
Camptodactyly of finger, Hypothyroidism, Knee flexion contracture, Flexion contracture, Short sta... |
ORPHA:3206 |
| Acute Liver Failure |
|
Hypotension, Vomiting, Diarrhea, Adrenal insufficiency, Hepatocellular necrosis, Hepatic necrosis... |
ORPHA:90062 |
| Dyskeratosis Congenita |
|
Cirrhosis, Anemia, Abnormal testis morphology, Neoplasm of the pancreas, Abnormality of neutrophi... |
ORPHA:1775 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Restrictive ventilatory defect, Respiratory distress, Cervical myelopathy |
OMIM:183900 |
| Rodrigues Blindness |
|
Nasal flaring |
OMIM:268320 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Increased circulating IgG4 level, Retroperitoneal fibrosis, Weight loss, Nodular goiter, Thyroidi... |
ORPHA:79078 |
| Townes-Brocks Syndrome 1 |
|
Vesicoureteral reflux, Hypothyroidism, Multicystic kidney dysplasia, Gastroesophageal reflux, Ure... |
OMIM:107480 |
| Fanconi Anemia, Complementation Group D2 |
|
Anemia, Reticulocytopenia, Small for gestational age, Pancytopenia, Hypergonadotropic hypogonadis... |
OMIM:227646 |
| Acromesomelic Dysplasia 3 |
|
Disproportionate short-limb short stature, Elevated circulating luteinizing hormone level, Hyperg... |
OMIM:609441 |
| Fanconi Anemia, Complementation Group L |
|
Anemia, Unilateral renal agenesis, Aplasia of the uterus, Growth delay, Bone marrow hypocellulari... |
OMIM:614083 |
| Braddock-Carey Syndrome 1 |
|
Thrombocytopenia |
OMIM:619980 |
| Waardenburg Syndrome Type 3 |
|
Atelectasis |
ORPHA:896 |
| Reynolds Syndrome |
|
Biliary cirrhosis, Calcinosis, Hyperbilirubinemia, Jaundice, Raynaud phenomenon, Steatorrhea, Lym... |
OMIM:613471 |
| Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta |
|
Endocardial fibroelastosis, Mitral regurgitation, Cardiomyopathy |
OMIM:226100 |
| Exercise-Induced Malignant Hyperthermia |
|
Hypotension, Abnormal T-wave, Hyperphosphatemia, Vomiting, Sinus tachycardia, Abnormal pulse pres... |
ORPHA:466650 |
| 46,Xy Sex Reversal 7 |
|
Abnormal epididymis morphology, Gonadoblastoma, Gonadal dysgenesis, male, Sex reversal, Hypoplasi... |
OMIM:233420 |
| Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Myopathy, Flexion contracture, Weakness of facial musculature, Cardiomyopathy |
OMIM:201470 |
| Okamoto Syndrome |
|
Urinary incontinence, Splenomegaly, Gastroesophageal reflux, Ventricular septal defect, Abnormal ... |
ORPHA:2729 |
| Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypertrophic cardiomyopathy, Hepatomegaly |
ORPHA:5 |
| Achondroplasia |
|
Rhizomelia, Respiratory distress, Recurrent otitis media, Upper airway obstruction, Neonatal shor... |
OMIM:100800 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Hypoplasia of the vagina, Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney, A... |
ORPHA:3109 |
| Phocomelia, Schinzel Type |
|
Meningocele, Hypoplasia of penis, Disproportionate short stature, Aplasia of the uterus, Cryptorc... |
ORPHA:2879 |
| Hermansky-Pudlak Syndrome 8 |
|
Impaired platelet aggregation |
OMIM:614077 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Thrombocytopenia, High nonceruloplasmin-bound serum copper, Constipation |
ORPHA:457351 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Aspiration pneumonia, Micronodular cirrhosis, Hepatomegaly, Truncal obesity, Ascites, Thrombocyto... |
OMIM:301072 |
| Zimmermann-Laband Syndrome 1 |
|
Gastroesophageal reflux, Long penis, Spina bifida occulta, Hepatomegaly, Nephrolithiasis, Splenom... |
OMIM:135500 |
| Combined Oxidative Phosphorylation Deficiency 12 |
|
Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino... |
OMIM:614924 |
| Lathosterolosis |
|
Meningocele, Anisopoikilocytosis, Intrahepatic cholestasis, Failure to thrive, Abnormal platelet ... |
ORPHA:46059 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Anemia, Heart murmur, Hyperbilirubinemia, Intracranial hemorrhage, Thrombocyt... |
ORPHA:163979 |
| Pseudoleprechaunism Syndrome, Patterson Type |
|
Diabetes mellitus, Increased circulating androgen concentration, Premature adrenarche |
ORPHA:2976 |
| Cardiofaciocutaneous Syndrome 1 |
|
Gastroesophageal reflux, Atopic dermatitis, Splenomegaly, Vomiting, Short stature, Atrial septal ... |
OMIM:115150 |
| Thrombocytopenia 6 |
|
Spontaneous, recurrent epistaxis, Thrombocytopenia |
OMIM:616937 |
| Cardiofaciocutaneous Syndrome |
|
Short stature, Abnormal heart valve morphology, Atrial septal defect, Hypertrophic cardiomyopathy... |
ORPHA:1340 |
| Yunis-Varon Syndrome |
|
Pulmonary arterial hypertension, Ventricular septal defect, Short stature, Clitoral hypertrophy, ... |
ORPHA:3472 |
| Noonan Syndrome 1 |
|
Ventricular septal defect, Short stature, Hypogonadism, Amegakaryocytic thrombocytopenia, Synovit... |
OMIM:163950 |
| Blue Rubber Bleb Nevus |
|
Iron deficiency anemia, Thrombocytopenia, Abnormality of the liver, Intestinal bleeding |
OMIM:112200 |
| Kasabach-Merritt Syndrome |
|
Leukopenia, Anemia, Petechiae, Microangiopathic hemolytic anemia, Purpura, Respiratory distress, ... |
ORPHA:2330 |
| Pachyonychia Congenita |
|
Respiratory distress |
ORPHA:2309 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Limb hypertonia, Generalized amyotrophy, Dysphagia, Thrombocytopenia, Intrauterine growth retarda... |
ORPHA:572798 |
| Overhydrated Hereditary Stomatocytosis |
|
Intermittent jaundice, Stomatocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Decrea... |
ORPHA:3203 |
| Noonan Syndrome 3 |
|
Patent foramen ovale, Ventricular septal defect, Short stature, Mitral valve prolapse, Atrial sep... |
OMIM:609942 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Histiocytoid cardiomyopathy, Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Thy... |
OMIM:300952 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Cardiomyopathy, Cyst of the ductus choledochus, Short stature, Renal dysplasia, Respiratory distr... |
ORPHA:480880 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Ventricular septal defect, Short stature, Eczema, Atrial septal defect, Aortic regurgitation, Hyp... |
OMIM:607721 |
| Wiedemann-Rautenstrauch Syndrome |
|
Hypoplasia of the thymus, Increased serum testosterone level, Long penis, Hypospadias, Cryptorchi... |
OMIM:264090 |
| Wolf-Hirschhorn Syndrome |
|
Gastroesophageal reflux, Precocious puberty, Decreased muscle mass, Ventricular septal defect, Sh... |
OMIM:194190 |
| Takenouchi-Kosaki Syndrome |
|
Pulmonic stenosis, Thrombocytopenia, Increased mean platelet volume, Cryptorchidism |
OMIM:616737 |
| Congenital Erythropoietic Porphyria |
|
Reduced haptoglobin level, Abnormal circulating porphyrin concentration, Leukopenia, Hemolytic an... |
ORPHA:79277 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Amegakaryocytic thrombocytopenia, Congenital thrombocytopenia, Aplastic anemia |
OMIM:605432 |
| Beemer-Ertbruggen Syndrome |
|
Thrombocytopenia, Cryptorchidism |
ORPHA:1237 |
| Nijmegen Breakage Syndrome |
|
Hemolytic anemia, Recurrent respiratory infections, Cachexia, Recurrent sinopulmonary infections,... |
ORPHA:647 |
| 21Q22.11Q22.12 Microdeletion Syndrome |
|
Thrombocytopenia, Hypoplastic nipples, Failure to thrive in infancy, Anemia |
ORPHA:261323 |
| Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Urinary incontinence, Gastroesophageal reflux, Hepatic steatosis, Constipation, Joint contracture... |
OMIM:619934 |
| Coffin-Siris Syndrome 1 |
|
Ventricular septal defect, Short stature, Clitoral hypertrophy, Hydroureter, Postnatal growth ret... |
OMIM:135900 |
| Pfeiffer Syndrome Type 2 |
|
Tracheomalacia, Respiratory distress |
ORPHA:93259 |
| Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal heart valve morphology, Umbilical hernia |
ORPHA:1517 |
| Vascular Ehlers-Danlos Syndrome |
|
Respiratory insufficiency, Pneumothorax, Uterine rupture, Aplasia/Hypoplasia of the abdominal wal... |
ORPHA:286 |
| Combined Oxidative Phosphorylation Deficiency 27 |
|
Hyperammonemia, Microvesicular hepatic steatosis |
OMIM:616672 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Biliary cirrhosis, Cardiac arrest, Pulmonary artery dilatation, Hepatomegaly, Hypercholesterolemi... |
OMIM:619534 |
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Rhinitis, Absent nipple, Eczema, Respiratory distress, Aplasia/Hypoplastia of the eccrine sweat g... |
OMIM:305100 |
| Jacobsen Syndrome |
|
Death in infancy, Spina bifida, Bone marrow hypocellularity, Cryptorchidism, Annular pancreas, Co... |
ORPHA:2308 |
| Peters Plus Syndrome |
|
Abnormal cardiac septum morphology, Anterior hypopituitarism, Spina bifida occulta, Bicuspid pulm... |
ORPHA:709 |
| Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Facial diplegia, Hypertrophic cardiomyopathy, Secundum atrial septal defect |
OMIM:619121 |
| Usher Syndrome |
|
Abnormal cardiovascular system physiology, Hypertrophic cardiomyopathy, Decreased fertility, Myop... |
ORPHA:886 |
| Limb-Mammary Syndrome |
|
Aplasia of the ovary, Absent nipple, Breast aplasia, Chronic irritative conjunctivitis, Aplasia o... |
ORPHA:69085 |
| Blackfan-Diamond Anemia |
|
Acute myeloid leukemia, Leukopenia, Reticulocytopenia, Small for gestational age, Pure red cell a... |
ORPHA:124 |
| Diamond-Blackfan Anemia 1 |
|
Reticulocytopenia, Congestive heart failure, Failure to thrive, Thrombocytosis, Tricuspid stenosi... |
OMIM:105650 |
| Familial Multiple Lipomatosis |
|
Hyperlipidemia |
ORPHA:199276 |
| Friedreich Ataxia |
|
Hypertrophic cardiomyopathy, Congestive heart failure, Abnormal EKG |
OMIM:229300 |
| Cutis Laxa, Autosomal Recessive, Type Iid |
|
Right bundle branch block, Pneumothorax, Hypoplastic right heart, Bilateral cryptorchidism, Campt... |
OMIM:617403 |
| Camurati-Engelmann Disease |
|
Leukopenia, Anemia, Hypogonadism, Urinary retention, Hypertrophic cardiomyopathy, Delayed puberty... |
ORPHA:1328 |
| Jacobsen Syndrome |
|
Failure to thrive, Cryptorchidism, Annular pancreas, Thrombocytopenia, Recurrent respiratory infe... |
OMIM:147791 |
| Oculoectodermal Syndrome |
|
Pineal cyst, Transient ischemic attack, Supernumerary nipple, Atrial septal defect, Hypertrophic ... |
OMIM:600268 |
| Dubowitz Syndrome |
|
Anemia, Chronic diarrhea, Acute lymphoblastic leukemia, Abnormality of neutrophils, Spina bifida ... |
ORPHA:235 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Urethral atresia, Absent external genitalia, Aplasia of the uterus, Aplasia of the vagina, Hydron... |
OMIM:271520 |
| Thrombocytopenia 3 |
|
Epistaxis, Thrombocytopenia, Decreased mean platelet volume |
OMIM:273900 |
| Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Arterial rupture, Thrombocytopenia |
OMIM:612394 |
| Tetrasomy 9P |
|
Absent gallbladder, Infertility, Oligospermia, Cryptorchidism, Micropenis |
ORPHA:3310 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:606721 |
| Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Dilatation of renal calices, Gastroesophageal reflux, Asthma, Nasal flaring, Pelvic kidney, Const... |
ORPHA:466943 |
| Pontocerebellar Hypoplasia Type 7 |
|
Ambiguous genitalia, Absent penis, Microphallus, Aplasia of the uterus, Skeletal muscle atrophy, ... |
ORPHA:284339 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Spinal dysraphism, Flexion contracture, Camptodactyly, Hepatosplenomegaly, Hepatoblastoma, Hypert... |
ORPHA:96334 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Aplasia of the uterus, Aplasia of the vagina, Facial hypotonia, Unilateral renal agenesis |
ORPHA:457284 |
| Ivic Syndrome |
|
Thrombocytopenia, Leukocytosis, Arrhythmia |
ORPHA:2307 |
| Cornelia De Lange Syndrome 1 |
|
Duplication of internal organs, Gastroesophageal reflux, Pneumonia, Cryptorchidism, Thrombocytope... |
OMIM:122470 |
| Angioosteohypertrophic Syndrome |
|
Pulmonary embolism, Abnormality of the menstrual cycle, Hematuria, Congestive heart failure, Gast... |
ORPHA:2346 |
| Alport Syndrome 1, X-Linked |
|
Hypertension, Thrombocytopenia, Hypoparathyroidism |
OMIM:301050 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Hyperlipidemia, Calcinosis |
ORPHA:90154 |
| 17Q11 Microdeletion Syndrome |
|
Pulmonary arterial hypertension, Glomus jugular tumor, Precocious puberty, Short stature, Leukemi... |
ORPHA:97685 |
| Peters-Plus Syndrome |
|
Hypoplastic labia majora, Biliary tract abnormality, Postnatal growth retardation, Hypoplasia of ... |
OMIM:261540 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Diastasis recti, Aplasia/Hypoplasia involving the shoulder musculature, Unilateral hypoplasia of ... |
ORPHA:1521 |
| Porphyria, Congenital Erythropoietic |
|
Hemolytic anemia, Jaundice, Hepatomegaly, Cholelithiasis, Thrombocytopenia, Splenomegaly |
OMIM:263700 |
| Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Leukopenia, Cirrhosis, Anemia, Decreased testicular size, Pancytopenia, B... |
OMIM:305000 |
| Pallister-Killian Syndrome |
|
Flexion contracture, Renal dysplasia, Hypoplastic labia majora, Supernumerary nipple, Hypertrophi... |
OMIM:601803 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Abnormality of the lymphatic system, Total anomalous pulmonary venous return, Thrombocytopenia, A... |
ORPHA:487796 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Camptodactyly of finger, Hypothyroidism, Patent foramen ovale, Abnormal external genitalia, Gastr... |
OMIM:607872 |
| Microcephaly 13, Primary, Autosomal Recessive |
|
Restrictive cardiomyopathy, Intrauterine growth retardation, Short stature |
OMIM:616051 |
| Isolated Arrhinia |
|
Respiratory distress |
ORPHA:1134 |
| Costello Syndrome |
|
Respiratory insufficiency, Pneumothorax, Ventricular septal defect, Short stature, Mitral valve p... |
OMIM:218040 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Hyperlipidemia, Hypercholesterolemia |
OMIM:248370 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Aplasia of the vagina, Amenorrhea, Hypoplasia of the uterus |
OMIM:277000 |
| Popliteal Pterygium Syndrome |
|
Bifid scrotum, Hypoplasia of the vagina, Hypoplastic labia majora, Spina bifida occulta, Cryptorc... |
OMIM:119500 |
| Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Acute myelomonocytic leukemia, D-2-hydroxyglutaric aciduria, Multiple joint contractures, Short s... |
ORPHA:99646 |
| Pierson Syndrome |
|
Retinal hemorrhage, Nephrotic syndrome, Stage 5 chronic kidney disease, Hypertension, Hypoprotein... |
OMIM:609049 |
| Osteogenesis Imperfecta |
|
Cerebral hemorrhage, Small for gestational age, Pulmonary hypoplasia, Aortic regurgitation, Intes... |
ORPHA:666 |
| Ivic Syndrome |
|
Thrombocytopenia, Leukocytosis |
OMIM:147750 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hyperlipidemia |
ORPHA:90153 |
| Fibular Hemimelia |
|
Spina bifida, Thrombocytopenia |
ORPHA:93323 |
| Cleidocranial Dysplasia 1 |
|
Neonatal respiratory distress, Moderately short stature, Respiratory distress, Short stature |
OMIM:119600 |
| Multiple Osteochondromas |
|
Pneumothorax, Hemothorax, Short stature, Urinary retention, Arthritis, Intestinal obstruction, Ce... |
ORPHA:321 |
| Relapsing Polychondritis |
|
Recurrent aphthous stomatitis, Hepatitis, Large vessel vasculitis, Pericarditis, Myocarditis, Ate... |
ORPHA:728 |
| Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Patent foramen ovale, Ventricular septal defect, Short stature, Renal hypoplasia/aplasia, Mitral ... |
ORPHA:363700 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Elbow flexion contracture, Anteriorly displaced genitalia, Disproportionate short stature, Hyposp... |
OMIM:276820 |
| Vulvovaginitis, Allergic Seminal |
|
Vaginitis |
OMIM:193450 |
| Apolipoprotein A-I Deficiency |
|
Abnormal circulating lipid concentration, Decreased HDL cholesterol concentration, Xanthelasma |
ORPHA:425 |
| Yunis-Varon Syndrome |
|
Pulmonary arterial hypertension, Patent foramen ovale, Aspiration pneumonia, Ventricular septal d... |
OMIM:216340 |
| Bartter Syndrome, Type 2, Antenatal |
|
Impaired platelet aggregation |
OMIM:241200 |
| Loeys-Dietz Syndrome |
|
Camptodactyly of finger, Cardiac arrest, Uterine rupture, Abnormal bleeding, Bruising susceptibility |
ORPHA:60030 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
| Norrie Disease |
|
Uterine rupture, Erectile dysfunction, Diabetes mellitus, Delayed puberty, Cryptorchidism |
ORPHA:649 |
| Roberts Syndrome |
|
Thrombocytopenia, Cryptorchidism |
ORPHA:3103 |
| Chand Syndrome |
|
Atelectasis |
ORPHA:1401 |
