Elastoderma |
|
Premature skin wrinkling, Erysipelas, Eczema, Cutis laxa |
ORPHA:228240 |
Lipedema |
|
Edema |
OMIM:614103 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia |
ORPHA:231249 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Urticarial plaque, Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Facial erythem... |
ORPHA:64745 |
Aquagenic Palmoplantar Keratoderma |
|
Excessive skin wrinkling on dorsum of hands and fingers, Atopic dermatitis, Orthokeratotic hyperk... |
ORPHA:498359 |
Cutis Laxa, Autosomal Dominant 2 |
|
Premature skin wrinkling, Cutis laxa |
OMIM:614434 |
Naxos Disease |
|
Prolonged QRS complex, Cardiomegaly, Subungual hyperkeratosis, Sudden cardiac death, Diffuse palm... |
OMIM:601214 |
His Bundle Tachycardia |
|
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart |
ORPHA:3283 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e... |
OMIM:619897 |
Pemphigus Foliaceus |
|
Psoriasiform dermatitis, Acantholysis, Pruritus, Pustule, Crusting erythematous dermatitis, Eryth... |
ORPHA:79481 |
Elastosis Perforans Serpiginosa |
|
Hyperkeratotic papule, Crusting erythematous dermatitis, Cutis laxa |
ORPHA:79148 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Edema, Acantholysis, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, P... |
OMIM:605676 |
Angioedema, Hereditary, 6 |
|
Facial edema, Angioedema, Edema of the dorsum of hands |
OMIM:619363 |
Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Neonatal death, Redundant skin |
OMIM:301021 |
Darier Disease |
|
Macule, Hypermelanotic macule, Acrokeratosis, Pruritus, Plantar pits, Palmoplantar keratoderma, S... |
ORPHA:218 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... |
OMIM:602087 |
Iga Pemphigus |
|
Neutrophilic infiltration of the skin, Acantholysis, Pruritus, Pustule, Annular cutaneous lesion,... |
ORPHA:555905 |
Dowling-Degos Disease |
|
Hypopigmented macule, Epidermoid cyst, Hypermelanotic macule, Pruritus, Palmar pits, Digital pitt... |
ORPHA:79145 |
Cardiomyopathy, Dilated, 1R |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:613424 |
Pemphigus Erythematosus |
|
Focal dermal aplasia/hypoplasia, Acantholysis, Localized skin lesion, Hypopigmented skin patches,... |
ORPHA:79480 |
Fibrinolytic Defect |
|
Spontaneous hematomas, Hyperextensible skin |
OMIM:134900 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... |
OMIM:602086 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... |
OMIM:612158 |
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Epidermal acanthosis, Acantholysis, Pruritus, Punctate palmoplantar hyperkeratosis, Hyperkeratosi... |
OMIM:616295 |
Acute Peripheral Arterial Occlusion |
|
Myocardial infarction, Abnormal capillary physiology, Absent ankle pulse, Pallor, Supraventricula... |
ORPHA:90064 |
Acute Generalized Exanthematous Pustulosis |
|
Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Acantholysis, Prurit... |
ORPHA:293173 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Syncope, Palpitations, Ventricular arrhyt... |
OMIM:610476 |
Superficial Epidermolytic Ichthyosis |
|
Edema, Acantholysis, Erythema, Palmoplantar keratoderma, Thin skin |
ORPHA:455 |
Porokeratosis Of Mibelli |
|
Pruritus, Hyperkeratosis, Cutaneous photosensitivity |
ORPHA:735 |
Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Left ... |
ORPHA:45453 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death |
OMIM:107970 |
Lethal Acantholytic Erosive Disorder |
|
Acantholysis, Cardiomegaly, Cardiomyopathy, Impaired myocardial contractility, Hypovolemic shock,... |
ORPHA:158687 |
Familial Benign Chronic Pemphigus |
|
Acantholysis, Erythema, Hyperkeratosis, Skin vesicle, Skin erosion |
ORPHA:2841 |
Kaposi Sarcoma, Susceptibility To |
|
Edema |
OMIM:148000 |
Verrucous Hemangioma |
|
Inflammatory abnormality of the skin, Hyperkeratotic papule, Epidermal acanthosis, Skin plaque |
ORPHA:464318 |
Darier-White Disease |
|
Acrokeratosis, Hypermelanotic macule, Acantholysis, Pruritus, Palmar pits, Plantar pits, Subungua... |
OMIM:124200 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa |
|
Increased number of skin folds, Redundant skin, Cutis laxa |
ORPHA:436274 |
Atrial Standstill |
|
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... |
ORPHA:1344 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... |
OMIM:604772 |
Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta... |
ORPHA:3282 |
Dermatoleukodystrophy |
|
Premature skin wrinkling, Progeroid facial appearance |
OMIM:221790 |
Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... |
ORPHA:60041 |
Acrokeratosis Verruciformis Of Hopf |
|
Parakeratosis, Epidermal acanthosis, Acantholysis, Skin-colored papule, Punctate palmoplantar hyp... |
ORPHA:79151 |
Pemphigus Vulgaris |
|
Atypical scarring of skin, Recurrent cutaneous abscess formation, Acantholysis |
ORPHA:704 |
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Pruritus, Skin erosion, Localized skin lesion, Erythematous papule, Atypical scarring of skin, At... |
ORPHA:79410 |
Warty Dyskeratoma |
|
Abnormal bleeding, Acrokeratosis, Umbilicated nodule, Skin-colored papule, Acantholysis, Localize... |
ORPHA:69745 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Psoriasiform dermatitis, Recurrent skin infections, Acantholysis, Multiple muscular ventricular s... |
OMIM:615508 |
Congenital Heart Defects, Multiple Types, 3 |
|
Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle... |
OMIM:614954 |
Non-Epidermolytic Palmoplantar Keratoderma |
|
Pruritus, Diffuse palmoplantar hyperkeratosis, Erythema, Skin ulcer |
ORPHA:2337 |
Cardiomyopathy, Familial Hypertrophic, 12 |
|
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Ventricular septal... |
OMIM:612124 |
Placental Insufficiency |
|
Abnormal placenta morphology, Abnormal umbilical cord blood vessel morphology, Small placenta, Ab... |
ORPHA:439167 |
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Parakeratosis, Pruritus, Palmoplantar hyperkeratosis, Erythema migrans, Skin vesicle |
ORPHA:158681 |
Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Pruritus, Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Scaling skin |
OMIM:617571 |
Familial Reactive Perforating Collagenosis |
|
Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Pruritus, Crusti... |
ORPHA:79147 |
Lichen Planus Pemphigoides |
|
Pruritus, Hyperkeratosis, Skin vesicle |
ORPHA:254478 |
Lymphatic Malformation 11 |
|
Pedal edema, Lymphedema |
OMIM:619401 |
Acrokeratosis Verruciformis |
|
Epidermal acanthosis, Acrokeratosis, Punctate palmoplantar hyperkeratosis, Verrucous papule, Hype... |
OMIM:101900 |
Atrophoderma Vermiculata |
|
Hypoplastic pilosebaceous units, Pruritus, Heart block, Erythema, Periauricular skin pits, Abnorm... |
ORPHA:79100 |
Body Skin Hyperlaxity Due To Vitamin K-Dependent Coagulation Factor Deficiency |
|
Redundant skin, Cutis laxa |
ORPHA:91135 |
Left Ventricular Noncompaction 10 |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:615396 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... |
OMIM:613838 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Ventricular tachycardia, Ventricular septal hypertrophy, Asymmetric septal ... |
OMIM:608758 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:604400 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... |
OMIM:613251 |
Renal Hypodysplasia/Aplasia 2 |
|
Redundant skin |
OMIM:615721 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... |
OMIM:612098 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... |
OMIM:604169 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
Brugada Syndrome |
|
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... |
ORPHA:130 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... |
OMIM:603902 |
Cardiomyopathy, Dilated, 1Gg |
|
Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef... |
OMIM:613642 |
Atrial Fibrillation, Familial, 15 |
|
Atrial flutter, Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Supraventricu... |
OMIM:615770 |
Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... |
OMIM:615373 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Neonatal death, Skin erosion, Aplasia cutis congenita, Acantholysis |
OMIM:609638 |
Ichthyosis, Lamellar, Autosomal Dominant |
|
Pruritus, Hyperkeratosis |
OMIM:146750 |
Hemoglobin H Disease |
|
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Cardiomyopathy, Dilated, 1P |
|
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia |
OMIM:609909 |
Cardiomyopathy, Dilated, 1E |
|
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... |
OMIM:601154 |
Granulomatous Slack Skin |
|
Erythema, Redundant skin, Cutis laxa |
ORPHA:33111 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... |
OMIM:611528 |
Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... |
OMIM:614021 |
Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Macule, Acute hepatic failure, Elevated hepatic transaminase, Sudden... |
ORPHA:537 |
Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Macule, Acute hepatic failure, Elevated hepatic transaminase, Sudden... |
ORPHA:36426 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Coronary Arterial Fistula |
|
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Pedal edema, Right ventricular dila... |
ORPHA:2041 |
Cardiomyopathy, Dilated, 1G |
|
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... |
OMIM:604145 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Aldh18A1-Related De Barsy Syndrome |
|
Hyperextensible skin |
ORPHA:35664 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Atrial Standstill 1 |
|
Ventricular escape rhythm, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, First degree at... |
OMIM:108770 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Tachycardia, Syncope, Palpitations, Pallor, Diffuse pancreatic islet hyperplasia, H... |
ORPHA:276556 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Cardiomyopathy, Dilated, 1B |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... |
OMIM:600884 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Tachycardia, Syncope, Palpitations, Pallor, Diffuse pancreatic islet hyperplasia, H... |
ORPHA:276575 |
Peeling Skin Syndrome 6 |
|
Parakeratosis, Pruritus, Atopic dermatitis, Scaling skin, Orthokeratosis, Dry skin |
OMIM:618084 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Cardiac arrest, Short stature, Congestive heart failure, Paroxysmal at... |
ORPHA:49827 |
Amyloidosis, Primary Localized Cutaneous, 3 |
|
Pruritus, Cutaneous photosensitivity, Dry skin |
OMIM:617920 |
Peeling Skin Syndrome 3 |
|
Pruritus, Erythema, White scaling skin |
OMIM:616265 |
Ehlers-Danlos Syndrome, Classic Type, 2 |
|
Hyperextensible skin, Soft, doughy skin, Bruising susceptibility, Fragile skin, Soft skin |
OMIM:130010 |
Peripartum Cardiomyopathy |
|
Ventricular tachycardia, Pedal edema, Left bundle branch block, Right ventricular dilatation, Abn... |
ORPHA:563 |
Cardiomyopathy, Dilated, 1O |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... |
OMIM:608569 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Tachycardia, Ventricular septal defect, Ab... |
ORPHA:860 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Ragged-red muscle fibers, Growth delay, Generalized ... |
OMIM:613561 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,... |
OMIM:613873 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:241520 |
Atrial Septal Defect, Sinus Venosus Type |
|
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... |
ORPHA:99105 |
Ventricular Tachycardia, Familial |
|
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death |
OMIM:192605 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Ventricular hypertrophy, Decreased muscle mass, Decreased muscle glycogen content, ST segment ele... |
ORPHA:263297 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... |
ORPHA:300751 |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Fatty replacement of skeletal muscle, Cardiomyopathy, Myopathy, Supraventricular tachycardia |
OMIM:255100 |
Cardiomyopathy, Dilated, 2F |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:619747 |
Palmoplantar Keratoderma, Nagashima Type |
|
Orthokeratotic hyperkeratosis, Epidermal acanthosis, Palmoplantar hyperkeratosis |
OMIM:615598 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr... |
OMIM:618920 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Tachycardia, Syncope, Palpitations, Pallor, Diffuse pancreatic islet hyperplasia, H... |
ORPHA:276580 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Pemphigoid Gestationis |
|
Pruritus, Skin vesicle, Premature birth |
ORPHA:63275 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Sudden cardiac death, Centrally nucleated skeletal muscle fibers, Congestive heart failure, Dilat... |
OMIM:611705 |
Hypotrichosis And Recurrent Skin Vesicles |
|
Skin vesicle, Epidermal acanthosis, Follicular hyperkeratosis |
OMIM:613102 |
Mal De Meleda |
|
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, Ep... |
ORPHA:87503 |
Snakebite Envenomation |
|
Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Edema, Cardiogenic shock, Angio... |
ORPHA:449285 |
Trimethylaminuria |
|
Splenomegaly, Hypertension, Tachycardia |
OMIM:602079 |
Cardiomyopathy, Dilated, 1Ii |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,... |
OMIM:615184 |
Glycogen Storage Disease Xv |
|
Scapular winging, ST segment elevation, Right bundle branch block, Cardiomyocyte hypertrophy, Par... |
OMIM:613507 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Pericarditis, Polyhydramnios, Congestive heart failure, Splenomegaly, Hydrops fetal... |
ORPHA:163596 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... |
OMIM:607450 |
Jessner Lymphocytic Infiltration Of The Skin |
|
Pruritus, Cutaneous photosensitivity, Erythema |
ORPHA:33314 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Left atrial enlargement, Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave i... |
OMIM:608751 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia |
OMIM:611938 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... |
OMIM:610193 |
Long Qt Syndrome 3 |
|
Ventricular flutter, Nonimmune hydrops fetalis, Sudden cardiac death, Ventricular tachycardia, Hy... |
OMIM:603830 |
Dermatitis Herpetiformis |
|
Macule, Eczema, Edema, Pruritus, Erythema, Skin vesicle |
ORPHA:1656 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hyperextensible skin, Cutis marmorata |
OMIM:615937 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong... |
OMIM:609040 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Coproporphyria, Hereditary |
|
Hepatomegaly, Tachycardia, Splenomegaly, Jaundice, Hypertension |
OMIM:121300 |
Erythema Elevatum Diutinum |
|
Skin vesicle, Skin nodule, Skin rash, Vasculitis in the skin |
ORPHA:90000 |
Wells Syndrome |
|
Pruritus, Skin vesicle, Vasculitis, Edema |
ORPHA:901 |
Danon Disease |
|
Myocardial necrosis, Wolff-Parkinson-White syndrome, Cardiomegaly, Congestive heart failure, Dila... |
OMIM:300257 |
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive |
|
Hyperkeratosis, Epidermal acanthosis |
OMIM:615028 |
Complete Atrioventricular Septal Defect |
|
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... |
ORPHA:1329 |
Refractory Celiac Disease |
|
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,... |
ORPHA:398063 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,... |
OMIM:614916 |
Keratosis Palmoplantaris Striata Ii |
|
Palmoplantar keratoderma, Epidermal acanthosis |
OMIM:612908 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia |
ORPHA:46532 |
Catecholaminergic Polymorphic Ventricular Tachycardia |
|
Syncope, Ventricular tachycardia, Sudden cardiac death |
ORPHA:3286 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Long Qt Syndrome 13 |
|
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... |
OMIM:613485 |
Vitamin D-Dependent Rickets, Type 3 |
|
Hypocalcemia, Hypophosphatemia |
OMIM:619073 |
Dysmorphism-Cleft Palate-Loose Skin Syndrome |
|
Redundant skin |
ORPHA:1779 |
Sweet Syndrome |
|
Predominantly dermal neutrophilic infiltrate, Myositis, Acne, Pustule, Skin nodule, Dilated cardi... |
ORPHA:3243 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Cutis laxa |
OMIM:614100 |
Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, Sudden cardiac death, First degree atrioventricular block, P... |
OMIM:115200 |
Dowling-Degos Disease 4 |
|
Pruritus, Epidermal acanthosis, Papule |
OMIM:615696 |
Idiopathic Neonatal Atrial Flutter |
|
Abnormal EKG, Abnormal atrioventricular conduction, Hydrops fetalis, Abnormal left ventricular fu... |
ORPHA:45452 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:146200 |
Amyloidosis, Finnish Type |
|
Cutis laxa |
OMIM:105120 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Hypertrophic cardiomyopathy, Pallor |
OMIM:612989 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosis, Type I diabetes mellitus... |
OMIM:618858 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Palmoplantar keratoderma, Follicular hyperkeratosis, Cardiomegaly |
OMIM:613576 |
Pyoderma Gangrenosum |
|
Myositis, Pustule, Skin ulcer, Atrophic scars, Skin vesicle, Papule |
ORPHA:48104 |
Hypercalcemia, Infantile, 2 |
|
Hypercalcemia, Hypophosphatemia |
OMIM:616963 |
Cutaneous Collagenous Vasculopathy |
|
Prominent superficial blood vessels, Skin rash, Pruritus, Erythema, Diffuse telangiectasia, Bruis... |
ORPHA:280779 |
Edema, Familial Idiopathic, Prepubertal |
|
Edema |
OMIM:129840 |
Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
Cardiomyopathy, Familial Hypertrophic, 25 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome |
OMIM:607487 |
Congenital Fibrinogen Deficiency |
|
Abnormal bleeding, Tachycardia, Internal hemorrhage, Splenic rupture, Prolonged prothrombin time,... |
ORPHA:335 |
Cardiomyopathy, Familial Hypertrophic, 7 |
|
Ventricular hypertrophy, Wolff-Parkinson-White syndrome, Atrial fibrillation, Hypertrophic cardio... |
OMIM:613690 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... |
ORPHA:216694 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
Preeclampsia/Eclampsia 1 |
|
Intrauterine growth retardation, Edema |
OMIM:189800 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Ventricular hypertrophy, Hepatomegaly, Elevated hepatic transaminase, Cardiac arrest, Rhabdomyoly... |
OMIM:212138 |
Lymphatic Malformation 2 |
|
Lymphedema |
OMIM:611944 |
American Trypanosomiasis |
|
Hepatomegaly, Edema, Periorbital edema, Myocarditis, Congestive heart failure, Splenomegaly, Card... |
ORPHA:3386 |
Microphthalmia, Syndromic 8 |
|
Premature skin wrinkling |
OMIM:601349 |
Acquired Ichthyosis |
|
Recurrent skin infections, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Dry skin |
ORPHA:454 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
First degree atrioventricular block, Cardiomegaly, Right atrial enlargement, Atrioventricular blo... |
OMIM:115197 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Ventricular septal defect, Diastasis recti, Polyhydramnios, Large placenta, Abnormal heart morpho... |
ORPHA:254534 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Tachycardia, Syncope, Ventricular fibrillation |
OMIM:603829 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H |
|
Hyperextensible skin |
OMIM:619764 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Ventricular ta... |
OMIM:600649 |
Cirrhotic Cardiomyopathy |
|
Cardiomegaly, Right atrial enlargement, Global systolic dysfunction, Abnormal bleeding, Hepatomeg... |
ORPHA:57777 |
Porphyria Variegata |
|
Elevated hepatic transaminase, Proximal muscle weakness in upper limbs, Tachycardia, Localized sk... |
ORPHA:79473 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tachycardia, Pancreatic islet-cell hyperplasia, Pallor |
ORPHA:276608 |
Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... |
OMIM:613426 |
Brugada Syndrome 1 |
|
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... |
OMIM:601144 |
Krt1-Related Diffuse Nonepidermolytic Keratoderma |
|
Tendon thickening, Diffuse palmoplantar hyperkeratosis, Nonepidermolytic palmoplantar hyperkerato... |
ORPHA:530838 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Elevated hemoglobin A1c, Maternal diabetes, Transient neonatal diabetes mellitus, Reduced C-pepti... |
OMIM:610582 |
Macular Dystrophy, Dominant Cystoid |
|
Cystoid macular edema, Edema |
OMIM:153880 |
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Dry skin, Generalized hyperkeratosis, Scaling skin, Cutis laxa |
ORPHA:2269 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Jaundice, Cutis laxa |
OMIM:301045 |
Combined Oxidative Phosphorylation Deficiency 36 |
|
Premature skin wrinkling |
OMIM:617950 |
Transaldolase Deficiency |
|
Premature skin wrinkling, Telangiectasia |
ORPHA:101028 |
Acrogeria |
|
Telangiectasia of the skin, Excessive wrinkled skin, Prematurely aged appearance, Skin ulcer |
ORPHA:2500 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Elevated hepatic transaminase, Exercise-induced rhabdomyolysis, Parakeratosis, Superficial dermal... |
ORPHA:284426 |
Congenital Disorder Of Glycosylation, Type It |
|
Cardiomegaly, Hepatic steatosis, Hepatomegaly, Short stature, Elevated circulating aspartate amin... |
OMIM:614921 |
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu... |
OMIM:115000 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Hepatomegaly, Elevated circulating aspartate aminotransferase concentrat... |
OMIM:619048 |
Blue Diaper Syndrome |
|
Recurrent hypoglycemia, Hyperphosphatemia, Hypercalcemia, Increased proinsulin:insulin ratio |
ORPHA:94086 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Tachycardia, Syncope, Palpitations, Pallor |
ORPHA:324575 |
Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Aplasia/Hypoplasia of the skin, Myopathy, Dermal atrophy, Skin vesicle, Papule |
ORPHA:257 |
Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Edema, Pulmonary edema |
OMIM:178400 |
Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
Variegate Porphyria |
|
Tachycardia |
OMIM:176200 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria... |
OMIM:616201 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Hyperkeratosis, Dry skin, Eczema, Cutis laxa |
OMIM:612379 |
Fanconi Renotubular Syndrome 5 |
|
Hypophosphatemic rickets, Hypophosphatemia, Glycosuria |
OMIM:618913 |
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... |
OMIM:615441 |
Hyperkeratosis Lenticularis Perstans |
|
Pruritus, Hyperkeratosis lenticularis perstans, Skin ulcer |
ORPHA:409 |
Cardiomyopathy, Dilated, 1I |
|
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... |
OMIM:604765 |
Maturity-Onset Diabetes Of The Young, Type 14 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young |
OMIM:616511 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... |
OMIM:616329 |
Ehlers-Danlos Syndrome, Hypermobility Type |
|
Soft skin, Hyperextensible skin, Striae distensae |
OMIM:130020 |
Beta-Thalassemia |
|
Hepatomegaly, Splenomegaly, Hepatitis, Skin ulcer, Pallor, Cholelithiasis, Hypertrophic cardiomyo... |
ORPHA:848 |
Cyclic Vomiting Syndrome |
|
Growth delay, Cardiomyopathy, Pallor |
OMIM:500007 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Iron deficiency anemia, Hypocalcemia, Hypophosphatemia |
ORPHA:89937 |
Epidermolytic Palmoplantar Keratoderma |
|
Epidermal acanthosis, Interphalangeal joint contracture of finger, Epidermal hyperkeratosis, Diff... |
ORPHA:2199 |
Hydrops Fetalis |
|
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Abnormal heart morph... |
ORPHA:1041 |
Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... |
OMIM:601494 |
Hypophosphatemic Bone Disease |
|
Hypophosphatemia |
OMIM:146350 |
Hennekam-Beemer Syndrome |
|
Macule, Telangiectasia of the skin, Camptodactyly of finger, Pruritus, Subcutaneous nodule, Eryth... |
ORPHA:2135 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:193100 |
Rheumatic Fever |
|
Pericarditis, Abnormal heart valve morphology, Epistaxis, Myocarditis, Aplasia/Hypoplasia of the ... |
ORPHA:3099 |
Erythrokeratodermia Variabilis Et Progressiva 4 |
|
Hyperkeratosis, Erythema, Epidermal acanthosis, Palmoplantar hyperkeratosis |
OMIM:617526 |
Huriez Syndrome |
|
Dry skin, Lack of skin elasticity, Palmoplantar keratoderma |
ORPHA:384 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P... |
ORPHA:1686 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Exercise-induced rhabdomyolysis, Tachycardia, Hepatomegaly, Ventricular se... |
ORPHA:26793 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Diabetes mellitus, Hypouricemia, Hypoglycemia, Glycosuria, Hypophosphatemia |
OMIM:616026 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ... |
OMIM:615616 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Congestive heart failure, Tachycardia, Pallor |
ORPHA:90037 |
Restrictive Dermopathy |
|
Decreased fetal movement, Multiple joint contractures, Premature birth, Dextrocardia, Camptodacty... |
ORPHA:1662 |
Ichthyosis Hystrix, Curth-Macklin Type |
|
Hyperkeratotic papule, Scaling skin, Palmoplantar keratoderma, Amniotic constriction ring |
OMIM:146590 |
Congenital Myopathy 8 |
|
Internally nucleated skeletal muscle fibers, Cardiomegaly, Congestive heart failure, Increased va... |
OMIM:618654 |
Amyloidosis, Primary Localized Cutaneous, 1 |
|
Pruritus, Dry skin, Scaling skin |
OMIM:105250 |
Naxos Disease |
|
Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi... |
ORPHA:34217 |
Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate |
OMIM:618531 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Wolff-Parkinson-White syndrome, Skeletal muscle atrophy, Proximal muscle weakness in upper limbs,... |
OMIM:619566 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Hy... |
OMIM:606176 |
Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia |
OMIM:614896 |
Periodontal Ehlers-Danlos Syndrome |
|
Hyperextensible skin |
ORPHA:75392 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Skin rash, Eczema, Pruritus, Skin ulcer, Skin vesicle, Papule |
ORPHA:2314 |
Evans Syndrome |
|
Epistaxis, Jaundice, Syncope, Pallor, Bruising susceptibility, Petechiae |
ORPHA:1959 |
Cardiomyopathy, Dilated, 1Nn |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... |
OMIM:615916 |
Cardiomyopathy, Dilated, 1Y |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... |
OMIM:611878 |
Leber Hereditary Optic Neuropathy |
|
Myopathy, Arrhythmia, Ventricular preexcitation, Retinal telangiectasia |
ORPHA:104 |
Congenital Toxoplasmosis |
|
Macule, Hepatomegaly, Elevated hepatic transaminase, Premature birth, Cardiomegaly, Jaundice, Asc... |
ORPHA:858 |
Dyskeratosis Congenita |
|
Macule, Hepatomegaly, Neoplasm of the pancreas, Aplasia/Hypoplasia of the skin, Telangiectasia of... |
ORPHA:1775 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Hypophosphatemia, Glycosuria |
OMIM:308990 |
Congenital Pulmonary Lymphangiectasia |
|
Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Congestive heart failure, Hydrops fetalis, C... |
ORPHA:2414 |
Cutis Laxa-Marfanoid Syndrome |
|
Redundant skin |
ORPHA:171719 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Tachycardia, Ventricular septal defect, Flexion contracture, Interphalangeal thumb joint contract... |
OMIM:613870 |
Primary Effusion Lymphoma |
|
Abnormal peritoneum morphology, Pleural effusion, Pericardial effusion |
ORPHA:48686 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia |
ORPHA:2239 |
Trichothiodystrophy 8, Nonphotosensitive |
|
Eczema, Cutis laxa |
OMIM:619691 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Pleural effusion, Generalized edema |
OMIM:618773 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Pedal ed... |
ORPHA:75565 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Biventricular hyper... |
OMIM:613243 |
Ledderhose Disease |
|
Lack of skin elasticity |
ORPHA:199251 |
Dent Disease 2 |
|
Elevated circulating creatine kinase concentration, Hypophosphatemia |
OMIM:300555 |
Progeroid Syndrome, Petty Type |
|
Reduced subcutaneous adipose tissue, Prematurely aged appearance, Redundant skin, Cutis laxa |
ORPHA:2963 |
Cardiomyopathy, Dilated, 1Oo |
|
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... |
OMIM:620247 |
Lipoid Proteinosis Of Urbach And Wiethe |
|
Hyperkeratosis, Reduced epidermal extracellular matrix protein 1 protein expression, Skin erosion... |
OMIM:247100 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome |
|
Lymphedema |
ORPHA:69061 |
Long Qt Syndrome 2 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613688 |
16P12.1P12.3 Triplication Syndrome |
|
Tachycardia, Abnormal heart morphology, Abnormal intrahepatic bile duct morphology, Abnormal tric... |
ORPHA:485405 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Nemaline bodies, Increased variability in muscle fiber diameter, Bradycardia, Neonatal death, Wea... |
OMIM:620265 |
Timothy Syndrome |
|
Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Ventricular tachycardia, Atrioven... |
OMIM:601005 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Tachycardia, Syncope, Premature ventricular contraction |
OMIM:192445 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Ventricular septal def... |
ORPHA:137675 |
Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement,... |
OMIM:614022 |
Wolff-Parkinson-White Syndrome |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... |
OMIM:194200 |
Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, First degree atrioventricular block, Pedal edema, Right ventricular dilatati... |
ORPHA:99103 |
Cutis Laxa, Autosomal Dominant 1 |
|
Prematurely aged appearance, Redundant skin, Progeroid facial appearance, Poor wound healing, Cut... |
OMIM:123700 |
Jervell And Lange-Nielsen Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval |
OMIM:220400 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia |
ORPHA:846 |
Fanconi-Bickel Syndrome |
|
Diabetes mellitus, Impaired glucose tolerance, Hypertriglyceridemia, Hypophosphatemia, Fasting hy... |
ORPHA:2088 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Nonimmune hydrops fetalis, Cardiac arrest, Cardio... |
OMIM:618052 |
Uremic Pruritus |
|
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Depression, Increased blood urea nitrogen |
ORPHA:94059 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Intrauterine growth retardation, Tachycardia, Lower limb muscle weakness |
OMIM:619737 |
Ehlers-Danlos Syndrome, Periodontal Type, 2 |
|
Prominent superficial veins, Hyperextensible skin, Fragile skin, Bruising susceptibility |
OMIM:617174 |
Benign Paroxysmal Torticollis Of Infancy |
|
Torticollis, Pallor |
ORPHA:71518 |
Long Qt Syndrome 6 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613693 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Tachycardia, Splenomegaly, Congestive heart failure, Jaundice, Pallor |
ORPHA:90033 |
Alg8-Cdg |
|
Premature skin wrinkling, Abnormality of subcutaneous fat tissue, Cutis laxa |
ORPHA:79325 |
Myopathy, Myofibrillar, 1 |
|
Facial palsy, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Bradycardia, Third degree atri... |
OMIM:601419 |
Geroderma Osteodysplasticum |
|
Premature skin wrinkling, Neonatal wrinkled skin of hands and feet, Progeroid facial appearance, ... |
OMIM:231070 |
Acral Peeling Skin Syndrome |
|
Erythema, Eczema, Scaling skin, Excessive wrinkling of palmar skin |
ORPHA:263534 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Ventricular septal defect, Hypoplastic left heart, Bradycardia, Intrauterine growth retardation, ... |
OMIM:616276 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
Cutis Laxa, Autosomal Dominant 3 |
|
Premature skin wrinkling, Cutis laxa, Dermal translucency |
OMIM:616603 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Neonatal deat... |
OMIM:614096 |
Basan Syndrome |
|
Epidermal acanthosis, Hypermelanotic macule, Palmoplantar keratoderma, Flexion contracture of dig... |
OMIM:129200 |
Infantile Digital Fibromatosis |
|
Hyperkeratosis, Parakeratosis, Skin nodule, Epidermal acanthosis |
ORPHA:199267 |
Familial Atrial Myxoma |
|
Tricuspid regurgitation, Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Congestive heart fa... |
ORPHA:615 |
Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
Spontaneous Periodic Hypothermia |
|
Arrhythmia, Pallor |
ORPHA:29822 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Diffuse alveolar hemorrhage, Cardiomegaly, Heart murmur, Hepatosplenomegaly, Pallor |
ORPHA:99931 |
Neonatal Lupus Erythematosus |
|
Abnormal bleeding, Hepatomegaly, Parakeratosis, Prolonged QT interval, Maculopapular exanthema, S... |
ORPHA:398124 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Hypophosphatemia |
OMIM:612287 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction |
OMIM:604401 |
Non-Functioning Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t... |
ORPHA:94080 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Erythema, Dilated cardiomyopathy, Ventricular tachycardia, Syncope |
OMIM:615821 |
Vulvovaginal Gingival Syndrome |
|
Parakeratosis, Epidermal acanthosis, Pruritus, Erythema, Skin erosion |
ORPHA:83453 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Skeletal muscle atrophy, Tachycardia, Glycogen accumulation in muscle fiber lysosomes, Rhabdomyol... |
ORPHA:368 |
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality |
|
Hyperextensible skin, Petechiae, Bruising susceptibility, Striae distensae |
OMIM:225310 |
Long Qt Syndrome 9 |
|
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... |
OMIM:611818 |
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency |
|
Cutis laxa |
OMIM:610842 |
Hypotrichosis 6 |
|
Pruritus, Erythema, Follicular hyperkeratosis |
OMIM:607903 |
Acral Self-Healing Collodion Baby |
|
Palmoplantar scaling skin, Erythema, Lack of skin elasticity |
ORPHA:281127 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Tachycardia, Rhabdomyolysis, Palpitations |
OMIM:188580 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Hyperextensible skin, Progeroid facial appearance, Cutis laxa |
ORPHA:75496 |
Chikungunya |
|
Abnormal bleeding, Macule, Skin rash, Maculopapular exanthema, Epistaxis, Pruritus, Erythema nodo... |
ORPHA:324625 |
Myopathic Ehlers-Danlos Syndrome |
|
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c... |
ORPHA:536516 |
Fanconi Renotubular Syndrome 1 |
|
Hypokalemia, Hypophosphatemia, Glycosuria |
OMIM:134600 |
Absence Of The Pulmonary Artery |
|
Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation, Abnormal hemidiaphragm morphology... |
ORPHA:980 |
Cog7-Cdg |
|
Excessive wrinkled skin, Jaundice |
ORPHA:79333 |
Ichthyosis Prematurity Syndrome |
|
Premature birth, Epidermal acanthosis, Polyhydramnios, Pruritus, Caseous vernix-like desquamation... |
OMIM:608649 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... |
ORPHA:232 |
Proteus Syndrome |
|
Epidermal nevus, Epidermal acanthosis, Splenomegaly, Hyperkeratosis, Nevus |
OMIM:176920 |
Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... |
OMIM:617222 |
Atrial Fibrillation, Familial, 18 |
|
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... |
OMIM:617280 |
6P22 Microdeletion Syndrome |
|
Redundant skin |
ORPHA:251046 |
Double Outlet Right Ventricle |
|
Tachycardia, Ventricular septal defect, Short stature, Double outlet right ventricle, Heart murmu... |
ORPHA:3426 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Short stature, Pallor |
ORPHA:2786 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Eisenmenger Syndrome |
|
Ventricular tachycardia, Pedal edema, Aortopulmonary window, Abnormality of the liver, Bacterial ... |
ORPHA:97214 |
Linear Verrucous Nevus Syndrome |
|
Hypophosphatemia |
ORPHA:2611 |
Fanconi-Bickel Syndrome |
|
Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Fasting hypoglycemia, Glycosuria,... |
OMIM:227810 |
Cutis Laxa, Autosomal Recessive, Type Iie |
|
Cutis laxa |
OMIM:619451 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Premature birth, Cardiomegaly, Splenomegaly, Congestive heart failure, Hydrops feta... |
OMIM:269920 |
Psoriasis 2 |
|
Hyperkeratosis, Parakeratosis, Psoriasiform dermatitis, Scaling skin |
OMIM:602723 |
Familial Isolated Hyperparathyroidism |
|
Hypercalcemia, Hypophosphatemia |
ORPHA:99879 |
Nephrosialidosis |
|
Pericardial effusion, Ascites |
OMIM:256150 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Cardiomegaly, Conges... |
OMIM:212140 |
Peeling Skin Syndrome 5 |
|
Hyperkeratosis, Epidermal acanthosis, Scaling skin |
OMIM:617115 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Tricuspid regurgitation, Premature birth, Cardiomegaly, Pericardial effusion, Anoma... |
ORPHA:555874 |
Dominant Beta-Thalassemia |
|
Hypoplasia of the musculature, Hypersplenism, High-output congestive heart failure, Splenomegaly,... |
ORPHA:231226 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Hypophosphatemia |
OMIM:612286 |
Myotonic Dystrophy 2 |
|
Tachycardia, Premature ventricular contraction, Right bundle branch block, Generalized amyotrophy... |
OMIM:602668 |
Long Qt Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... |
OMIM:192500 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Congestive heart failure, Myopathy, Macrovesicular ... |
OMIM:618234 |
Autoimmune Hypoparathyroidism |
|
Depression, Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seiz... |
ORPHA:36913 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Cystinosis |
|
Type I diabetes mellitus, Hypokalemia, Hypophosphatemia |
ORPHA:213 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Elevated circulating creatine kinase concentration, Hypophosphatemia, Anemia, Hypomagnesemia, Hyp... |
OMIM:619743 |
Acrokeratoelastoidosis Of Costa |
|
Yellow papule, Epidermal acanthosis, Piezogenic pedal papules, Palmoplantar hyperkeratosis, Skin ... |
ORPHA:38 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Hepatomegaly, Short stature, Splenomegaly, Jaundice, Growth delay, Pallor |
OMIM:615631 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Ragged-red muscle fibers, Abnormal left... |
OMIM:540000 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Hyperextensible skin, Bruising susceptibility, Follicular hyperkeratosis |
ORPHA:300179 |
Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:603233 |
Cardiac Valvular Dysplasia, X-Linked |
|
Cutis laxa |
OMIM:314400 |
Focal Facial Dermal Dysplasia Type Iii |
|
Prematurely aged appearance, Redundant skin |
ORPHA:1807 |
Familial Short Qt Syndrome |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Irritability, Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia |
OMIM:264700 |
Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
White Sponge Nevus 2 |
|
Edema |
OMIM:615785 |
Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
Mulibrey Nanism |
|
Hepatomegaly, Cardiomegaly, Congestive heart failure, Hydrops fetalis, Myocardial fibrosis, Peric... |
OMIM:253250 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypophosphatemia, Hypermagnesemia, Hypercalcemia, Depression |
OMIM:600740 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Hepatomegaly, Tachycardia, Atrial fibrillation, Elevated hepatic transamin... |
OMIM:613327 |
Atrial Septal Defect 6 |
|
Atrial septal defect, Atrial fibrillation, Bradycardia |
OMIM:613087 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Tachycardia, Abnormal heart morphology |
ORPHA:79264 |
Rafiq Syndrome |
|
Cutis laxa |
OMIM:614202 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hypercalcemia, Splenomegaly, Hypophosphatemia, Anemia |
OMIM:239200 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Redundant skin, Seborrheic dermatitis, Erythema, Palmoplantar hyperkeratosis, Eczematoid dermatit... |
OMIM:259100 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Aortic regurgitation, Tricuspid regurgitation, Patent ductus arteriosus, Reduced left ventricular... |
OMIM:616501 |
Myoclonic-Astatic Epilepsy |
|
Premature skin wrinkling |
ORPHA:1942 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Parakeratosis, Epidermal acanthosis, Portal hypertension, Pruritus, Splenomegaly, J... |
OMIM:607626 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Cafe-au-lait spot, Small placenta, Oligohydramnios |
ORPHA:397590 |
Beta-Thalassemia Intermedia |
|
Hepatomegaly, Hepatocellular carcinoma, High-output congestive heart failure, Splenomegaly, Jaund... |
ORPHA:231222 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young |
OMIM:609812 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Elevated hepatic transaminase, Inflammatory abnormality of the skin, Skin rash, Acantholysis, Xer... |
ORPHA:95455 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardio... |
OMIM:620135 |
Olmsted Syndrome 2 |
|
Parakeratosis, Epidermal acanthosis, Pruritus, Perioral hyperkeratosis, Palmoplantar hyperkeratos... |
OMIM:619208 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Pleural effusion, Bradycardia, Intrauterine growth retardatio... |
OMIM:614702 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Cardiac arrest, Bradycardia, Hypotension, Pulmonary edema |
ORPHA:70587 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Skeletal muscle atrophy, Atrial fibrillation, Proximal amyotrophy, Muscular dystrophy, Bradycardi... |
OMIM:614302 |
Long Qt Syndrome 16 |
|
T-wave alternans, Second degree atrioventricular block, Perimembranous ventricular septal defect,... |
OMIM:618782 |
Colchicine Poisoning |
|
Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypo... |
ORPHA:31824 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide concentration, Hypoph... |
ORPHA:157215 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated hepatic transaminase, Tachycardia, Heart block, Capillary leak, Reduced left ventricular... |
ORPHA:542323 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Decreased fetal movement, Premature birth, Nonimmune hydrops fetalis, Polyhydramnio... |
OMIM:608013 |
Menkes Disease |
|
Death in childhood, Cutis laxa |
OMIM:309400 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia |
OMIM:612089 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Prolonged bleeding time, Hepatomegaly, Lymphedema, Splenomegaly, Intracranial hemorrhage, Pallor,... |
ORPHA:3226 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Rhabdomyolysis, Hypotension |
OMIM:145600 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Pancreatic islet-cell hyperplasia, Pall... |
ORPHA:263455 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Bradycardia, Hypotensi... |
ORPHA:66529 |
Jervell And Lange-Nielsen Syndrome 2 |
|
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... |
OMIM:612347 |
Acquired Methemoglobinemia |
|
Tachycardia, Syncope, Palpitations, Arrhythmia |
ORPHA:464453 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
Dermatitis, Atopic |
|
Dry skin, Pallor, Facial erythema |
OMIM:603165 |
Andersen-Tawil Syndrome |
|
Prolonged QT interval, Short stature, Bidirectional ventricular ectopy, Polymorphic ventricular t... |
ORPHA:37553 |
Beta-Thalassemia Major |
|
Hepatomegaly, Hypoplasia of the musculature, Hypersplenism, High-output congestive heart failure,... |
ORPHA:231214 |
Hereditary Spherocytosis |
|
Hepatomegaly, Splenomegaly, Jaundice, Skin ulcer, Growth delay, Pallor, Restrictive cardiomyopath... |
ORPHA:822 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Tachycardia, Pallor |
ORPHA:90036 |
X-Linked Sideroblastic Anemia |
|
Elevated hepatic transaminase, Splenomegaly, Pallor |
ORPHA:75563 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Cafe-au-lait spot, Small placenta |
ORPHA:73272 |
Long Qt Syndrome 5 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... |
OMIM:613695 |
Brugada Syndrome 8 |
|
Right bundle branch block, ST segment elevation, Ventricular tachycardia |
OMIM:613123 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Tachycardia, Ventricular septal defect, Flexion contracture, Erythema, Retinal hemorrhage, Growth... |
OMIM:614653 |
Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Parakeratosis, Scaling skin on fingertip, Epidermal acanthosis, Digital constriction ring, Honeyc... |
ORPHA:79395 |
Malignant Hyperthermia Of Anesthesia |
|
Acute hepatic failure, Exercise-induced rhabdomyolysis, Acute rhabdomyolysis, High-output congest... |
ORPHA:423 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... |
OMIM:617300 |
Primary Lateral Sclerosis, Juvenile |
|
Spasticity of facial muscles, Pallor |
OMIM:606353 |
Fanconi Renotubular Syndrome 2 |
|
Hypophosphatemia, Glycosuria |
OMIM:613388 |
Romano-Ward Syndrome |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... |
ORPHA:101016 |
Hereditary Coproporphyria |
|
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Tachycardia, He... |
ORPHA:79273 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Hepatomegaly, Nonimmune hydrops fetalis, Splenomegaly, Jaundice, Cholecystitis, Pallor, Cholelith... |
OMIM:266200 |
Vitamin D-Dependent Rickets, Type 2A |
|
Irritability, Hypocalcemic seizures, Hypophosphatemia |
OMIM:277440 |
Weaver Syndrome |
|
Redundant skin |
ORPHA:3447 |
Craniofaciofrontodigital Syndrome |
|
Palmoplantar cutis laxa, Premature skin wrinkling, Prominent superficial veins, Cutis laxa |
ORPHA:363705 |
Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Epidermal acanthosis, Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Erythroderma |
OMIM:133200 |
Leukocyte Adhesion Deficiency Type Ii |
|
Hepatomegaly, Palpebral edema, Lower limb hypertonia, Skin vesicle, Umbilical hernia |
ORPHA:99843 |
Choanal Atresia And Lymphedema |
|
Pericardial effusion, Lymphedema |
OMIM:613611 |
Cardiac-Urogenital Syndrome |
|
Accessory spleen, Prolonged bleeding time, Cor triatrium sinister, Tachycardia, Ventricular septa... |
OMIM:618280 |
Acute Myelomonocytic Leukemia |
|
Abnormal bleeding, Pallor |
ORPHA:517 |
Sepsis In Premature Infants |
|
Abnormal bleeding, Hepatomegaly, Tachycardia, Edema, Splenomegaly, Jaundice, Bradycardia, Hypoten... |
ORPHA:90051 |
Pseudohypoparathyroidism Type 2 |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:94090 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... |
OMIM:171420 |
Fixed Subaortic Stenosis |
|
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... |
ORPHA:3092 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia |
OMIM:241530 |
Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Hepatocellular carcinoma, Splenomegaly... |
OMIM:235200 |
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... |
OMIM:617072 |
Cutaneous Mastocytoma |
|
Macule, Maculopapular exanthema, Telangiectasia of the skin, Hypermelanotic macule, Pruritus, Hyp... |
ORPHA:79455 |
Hydroxykynureninuria |
|
Tachycardia, Dry skin, Hypotension |
ORPHA:79155 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Prominent superficial blood vessels, Hyperextensible skin, Cutis laxa |
OMIM:219150 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Rhabdomyolysis, Ventricular tachycardia, Cardiomyopa... |
ORPHA:159 |
Bathing Suit Ichthyosis |
|
Parakeratosis, Multiple joint contractures, Epidermal acanthosis, Palmoplantar hyperkeratosis, Pa... |
ORPHA:100976 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lymphedema, Cardiomegaly, Subcutan... |
ORPHA:79280 |
Nicolaides-Baraitser Syndrome |
|
Excessive wrinkled skin, Eczema |
ORPHA:3051 |
Cutis Laxa, Autosomal Recessive, Type Iia |
|
Excessive wrinkled skin, Redundant skin, Cutis laxa |
OMIM:219200 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Hypocalcemia, Hypophosphatemia |
OMIM:600081 |
Neuraminidase Deficiency |
|
Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Facial edema, Splenomegaly, Hydrops fetalis,... |
OMIM:256550 |
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2 |
|
Hyperextensible skin, Bruising susceptibility, Poor wound healing, Dermal translucency |
OMIM:619120 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Ventricular escape rhythm, Sudden card... |
ORPHA:98855 |
Relapsing Fever |
|
Abnormal bleeding, Elevated hepatic transaminase, Tachycardia, Epistaxis, Jaundice, Prolonged pro... |
ORPHA:91547 |
Fucosidosis |
|
Hepatomegaly, Decreased muscle mass, Cardiomegaly, Abnormality of the gallbladder, Generalized hy... |
ORPHA:349 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Abnormal left ventricular function, Cholecystitis, Ecchymosis, Internal hemo... |
ORPHA:99827 |
Pseudoxanthoma Elasticum |
|
Acne, Skin rash, Telangiectasia of the skin, Pruritus, Lack of skin elasticity, Excessive wrinkle... |
ORPHA:758 |
Primary Myelofibrosis |
|
Abnormal bleeding, Hepatomegaly, Portal hypertension, Splenomegaly, Hepatosplenomegaly, Pallor, E... |
ORPHA:824 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Elevated hepatic transaminase, Short stature, Post-partum hemorrhage, Melena, Oral cavity bleedin... |
ORPHA:98870 |
Epidermolytic Hyperkeratosis 1 |
|
Epidermal acanthosis, Scaling skin, Palmoplantar hyperkeratosis, Erythroderma |
OMIM:113800 |
Hyperthyroidism, Familial Gestational |
|
Tachycardia |
OMIM:603373 |
Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Parakeratosis, Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Eryt... |
OMIM:612281 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Elevated hepatic transaminase, Left atrial enlargement, Elevated circula... |
OMIM:300280 |
Fetal Akinesia Deformation Sequence 1 |
|
Hip contracture, Decreased muscle mass, Decreased fetal movement, Premature birth, Elbow contract... |
OMIM:208150 |
Rahman Syndrome |
|
Redundant skin |
OMIM:617537 |
Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
Hypotrichosis Simplex Of The Scalp |
|
Parakeratosis, Epidermal acanthosis, Pruritus, Atopic dermatitis, Hyperkeratosis, Scaling skin |
ORPHA:90368 |
Stiff-Person Syndrome |
|
Tachycardia, Proximal limb muscle stiffness, Hypertension, Asymmetric limb muscle stiffness, Axia... |
OMIM:184850 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Neonatal death, Redundant neck skin |
OMIM:619003 |
Short Qt Syndrome 3 |
|
Shortened QT interval, Tachycardia, Palpitations |
OMIM:609622 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Patent foramen ovale, Bradycardia |
OMIM:617182 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened PR interval, Cardiomyopathy,... |
OMIM:261740 |
Long Qt Syndrome 12 |
|
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes |
OMIM:612955 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Irritability, Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia |
ORPHA:289157 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Prominent superficial veins, Redundant skin, Lack of skin elasticity, Excessive wrinkled skin, Br... |
OMIM:612940 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia |
OMIM:307800 |
Ebstein Anomaly |
|
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ebstein anomaly of the tricuspid va... |
OMIM:224700 |
Acquired Idiopathic Sideroblastic Anemia |
|
Abnormal bleeding, Hepatomegaly, Congestive heart failure, Splenomegaly, Pallor |
ORPHA:75564 |
Macs Syndrome |
|
Redundant skin, Cutis laxa, Hyperextensible skin, Soft skin, Bruising susceptibility |
OMIM:613075 |
Man1B1-Cdg |
|
Cutis laxa |
ORPHA:397941 |
Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Ventricular escape rhythm, Sudden card... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Ventricular escape rhythm, Sudden card... |
ORPHA:98853 |
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome |
|
Heart block, Short stature, Bacterial endocarditis, Premature ventricular contraction |
ORPHA:1964 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Parakeratosis, Epidermal acanthosis, Flexion contracture, Palmoplantar hyperkeratosis, Desquamati... |
OMIM:242300 |
Bazex Syndrome |
|
Parakeratosis, Edema, Pruritus, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin |
ORPHA:166113 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Tricuspid regurgitation, Left ventricular systolic dysfunction, Dilated cardiomyopa... |
OMIM:619167 |
Hereditary Fructose Intolerance |
|
Hypophosphatemia, Hypermagnesemia, Hyperuricemia, Reactive hypoglycemia |
ORPHA:469 |
Combined Oxidative Phosphorylation Deficiency 2 |
|
Neonatal death, Redundant neck skin |
OMIM:610498 |
Trichohepatoenteric Syndrome 1 |
|
Aortic regurgitation, Hepatomegaly, Ventricular septal defect, Polyhydramnios, Splenomegaly, Abno... |
OMIM:222470 |
Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Parakeratosis, Epidermal acanthosis, Palmoplantar keratoderma, Erythroderma, Orthokeratosis, Whit... |
OMIM:604777 |
Graft Versus Host Disease |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Myositis, Tachycardia, Dupuytren contract... |
ORPHA:39812 |
X-Linked Ehlers-Danlos Syndrome |
|
Hyperextensible skin, Bruising susceptibility |
ORPHA:75497 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Redundant neck skin, Redundant skin, Abnormal subcutaneous fat tissue distribution, Prominent vei... |
ORPHA:357074 |
Agel Amyloidosis |
|
Pruritus, Cutis laxa, Dry skin, Dermatological manifestations of systemic disorders, Bruising sus... |
ORPHA:85448 |
Short Syndrome |
|
Premature skin wrinkling, Prominent superficial veins |
OMIM:269880 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Redundant skin, Gingival hyperkeratosis, Hyperextensible skin, Soft, doughy skin, Bruising suscep... |
OMIM:225410 |
Lamellar Ichthyosis |
|
Pruritus, Lack of skin elasticity, Hyperkeratosis, Erythroderma, Dry skin |
ORPHA:313 |
Scorpion Envenomation |
|
Bundle branch block, Tachycardia, Pulmonary edema, Acute pancreatitis, Elevated circulating aspar... |
ORPHA:466677 |
Breath-Holding Spells |
|
Pallor |
OMIM:607578 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Premature graying of hair, Dry skin, Prematurely aged appearance |
ORPHA:2617 |
Cole Disease |
|
Hypopigmented macule, Epidermal acanthosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis,... |
OMIM:615522 |
Leishmaniasis |
|
Abnormal bleeding, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Skin ulcer, Pallor |
ORPHA:507 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Excessive wrinkled skin, Prominent superficial veins, Cutis laxa, Dermal translucency |
OMIM:614438 |
Neurooculocardiogenitourinary Syndrome |
|
Tricuspid regurgitation, Ventricular septal defect, Redundant neck skin, Cardiomegaly, Patent duc... |
OMIM:618652 |
Neu-Laxova Syndrome 1 |
|
Decreased fetal movement, Hydranencephaly, Ventricular septal defect, Polyhydramnios, Fetal akine... |
OMIM:256520 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Prominent superficial veins, Prematurely aged appearance, Redundant skin, Poor wound healing, Hyp... |
OMIM:618000 |
Arterial Tortuosity Syndrome |
|
Soft, doughy skin, Progeroid facial appearance, Cutis laxa, Hyperextensible skin, Soft skin, Brui... |
OMIM:208050 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Tachycardia |
OMIM:221400 |
Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Periorbital edema, Congestive heart failure... |
ORPHA:33226 |
Rin2 Syndrome |
|
Hyperextensible skin, Redundant skin, Bruising susceptibility |
ORPHA:217335 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Ventricular escape rhythm, Sudden card... |
ORPHA:98863 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Elevated hepatic transaminase, Acute rhabdomyolysis, Cardiac arrest, Rhabdomyolysis, Ventricular ... |
OMIM:616878 |
Brugada Syndrome 3 |
|
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... |
OMIM:611875 |
Immunodeficiency 49 |
|
Psoriasiform dermatitis, Cutis laxa |
OMIM:617237 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Pallor, Hepatic steatosis |
ORPHA:348 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly |
OMIM:619064 |
Bacterial Toxic-Shock Syndrome |
|
Shock, Myositis, Tachycardia, Edema, Myocarditis, Peritonitis, Hepatitis, Capillary leak, Scaling... |
ORPHA:36234 |
Restrictive Dermopathy 1 |
|
Spontaneous chorioamniotic separation, Decreased fetal movement, Limb joint contracture, Prematur... |
OMIM:275210 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:605373 |
Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... |
ORPHA:439 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Tachycardia, Dilated cardiomyopathy, Erythema, Left ventricular hypertrophy, Cerebral edema |
OMIM:618321 |
Kenny-Caffey Syndrome, Type 2 |
|
Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia, Anemia |
OMIM:127000 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Soft, doughy skin, Hyperextensible skin, Bruising susceptibility, Poor wound healing |
OMIM:130060 |
Tularemia |
|
Pleural effusion, Tachycardia |
ORPHA:3392 |
Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Left ventricular hypertrophy, Intrauterine growth retardation, Decreased level of coenzyme Q10 in... |
OMIM:614654 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Cardiac arrest, Edema, Jaundice,... |
ORPHA:20 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Arrhythmia, Atrioventricular block, Cardiomegaly |
ORPHA:85447 |
Congenital Disorder Of Glycosylation, Type Il |
|
Hepatomegaly, Decreased fetal movement, Edema, Pericardial effusion, Hepatosplenomegaly, Abnormal... |
OMIM:608776 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Soft skin, Hyperextensible skin, Cutis laxa, Dermal translucency |
OMIM:615349 |
Olmsted Syndrome, X-Linked |
|
Subungual hyperkeratosis, Parakeratosis, Epidermal acanthosis, Palmoplantar hyperkeratosis, Hyper... |
OMIM:300918 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:93160 |
Blepharonasofacial Malformation Syndrome |
|
Redundant skin |
ORPHA:1252 |
Cantu Syndrome |
|
Bicuspid aortic valve, Lymphedema, Pericardial effusion, Cardiomegaly, Patent ductus arteriosus, ... |
OMIM:239850 |
Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Hypoglycemia, Bicarbonaturia, Hypophosphatemia, Decreased circulating carnitine con... |
ORPHA:3337 |
Congenital Enterovirus Infection |
|
Abnormal bleeding, Decreased fetal movement, Premature birth, Polyhydramnios, Fetal ascites, Peri... |
ORPHA:292 |
Jervell And Lange-Nielsen Syndrome |
|
Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation |
ORPHA:90647 |
Wild Type Attr Amyloidosis |
|
Abnormal EKG, Hepatomegaly, Myocardial infarction, Congestive heart failure, Pedal edema, Pleural... |
ORPHA:330001 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Congestive hea... |
ORPHA:85451 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Scapular winging, Ragged-red muscle fibers, Generalized limb muscle atrophy, Growth delay, Pallor... |
OMIM:600462 |
Autosomal Dominant Cutis Laxa |
|
Redundant neck skin, Prematurely aged appearance, Redundant skin, Cutis laxa, Increased number of... |
ORPHA:90348 |
Long Qt Syndrome 14 |
|
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... |
OMIM:616247 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Growth delay, Pallor, Elevated hepatic iron concentration |
OMIM:615234 |
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Palmoplantar keratoderma, Lack of skin elasticity |
ORPHA:1366 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Myocardial infarction, Pancreatic cysts,... |
ORPHA:892 |
Long Qt Syndrome 8 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... |
OMIM:618447 |
Fanconi Anemia, Complementation Group I |
|
Ventricular septal defect, Short stature, Pallor, Atrial septal defect, Intrauterine growth retar... |
OMIM:609053 |
Ichthyosis, Annular Epidermolytic, 1 |
|
Erythema, Hyperparakeratosis, Palmoplantar hyperkeratosis, Erythematous plaque, Scaling skin, Ort... |
OMIM:607602 |
Cranioectodermal Dysplasia 4 |
|
Cutis laxa |
OMIM:614378 |
Peeling Skin Syndrome 4 |
|
Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Orthokeratosis |
OMIM:607936 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:300554 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Nonimmune hydrops fetalis, Pericardial effusion, Endocardial fibroelastosis, Restrictive cardiomy... |
OMIM:619313 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t... |
ORPHA:276621 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Epidermal acanthosis, Polyhydramnios, Pustule, Dehydration, Hypertension, Papule |
OMIM:616069 |
Ichthyosis, Annular Epidermolytic, 2 |
|
Erythema, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Orthokeratosis, Sk... |
OMIM:620148 |
Geroderma Osteodysplastica |
|
Hyperextensible skin, Prematurely aged appearance, Redundant skin |
ORPHA:2078 |
Pearson Syndrome |
|
Reticulocytosis, Pancytopenia, Diabetes mellitus, Splenomegaly, Hypomagnesemia, Hypophosphatemia,... |
ORPHA:699 |
Sick Sinus Syndrome 1 |
|
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... |
OMIM:608567 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypophosphatemia, Hypo... |
ORPHA:411634 |
Cog5-Cdg |
|
Premature skin wrinkling |
ORPHA:263487 |
Tetanus |
|
Hypertension, Tachycardia, Bradycardia |
ORPHA:3299 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypercalcemia, Hypophosphatemia |
OMIM:156400 |
High Altitude Pulmonary Edema |
|
Tachycardia, Pulmonary edema |
ORPHA:330012 |
Cocaine Intoxication |
|
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... |
ORPHA:90068 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Myopat... |
OMIM:617713 |
Thanatophoric Dysplasia |
|
Redundant skin |
ORPHA:2655 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Myopathy, Dis... |
ORPHA:42 |
Oncogenic Osteomalacia |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:352540 |
Serotonin Syndrome |
|
Tachycardia, Rhabdomyolysis, Hypertension, Hypotension, Hepatic failure |
ORPHA:43116 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:168000 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Limb hypertonia, Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse |
|
Epidermal acanthosis, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar ke... |
OMIM:148700 |
Dent Disease 1 |
|
Hypophosphatemia, Glycosuria |
OMIM:300009 |
Ichthyosis, Congenital, Autosomal Recessive 7 |
|
Palmoplantar keratoderma, Epidermal acanthosis, Erythroderma |
OMIM:615022 |
Mirizzi Syndrome |
|
Elevated hepatic transaminase, Tachycardia, Pancreatitis, Jaundice, Cholesterol gallstones, Chole... |
ORPHA:521219 |
Cutis Laxa, Autosomal Recessive, Type Ia |
|
Redundant skin, Cutis laxa |
OMIM:219100 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Congestive heart failure, Cardiomegaly |
OMIM:300886 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, P... |
ORPHA:542306 |
Thanatophoric Dysplasia Type 2 |
|
Redundant skin |
ORPHA:93274 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid re... |
ORPHA:1677 |
Idiopathic Hypereosinophilic Syndrome |
|
Skeletal muscle atrophy, Cholangitis, Pulmonary embolism, Intracranial hemorrhage, Pallor, Raynau... |
ORPHA:3260 |
Erythrokeratodermia Variabilis Et Progressiva 3 |
|
Epidermal acanthosis, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis |
OMIM:617525 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Chole... |
OMIM:618775 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Ven... |
OMIM:300952 |
Anauxetic Dysplasia 3 |
|
Cutis laxa |
OMIM:618853 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Tachycardia |
OMIM:229700 |
Lymphatic Malformation 10 |
|
Lymphedema |
OMIM:619369 |
Psoriasis 14, Pustular |
|
Parakeratosis, Psoriasiform dermatitis, Epidermal acanthosis, Cholangitis, Pustule, Erythema |
OMIM:614204 |
Ichthyosis, Congenital, Autosomal Recessive 8 |
|
Orthokeratosis, Hyperkeratosis, Erythema, Epidermal acanthosis |
OMIM:613943 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Short stature, Spina bifida occulta, Perimembranous ventricular septal defect, Transposition of t... |
OMIM:617877 |
Mosaic Trisomy 16 |
|
Ventricular septal defect, Premature birth, Large placenta, Patent ductus arteriosus, Abnormal he... |
ORPHA:1708 |
Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Ca... |
OMIM:615745 |
Costello Syndrome |
|
Hyperkeratosis, Redundant skin, Lack of skin elasticity |
ORPHA:3071 |
Truncus Arteriosus |
|
Aortic regurgitation, Tachycardia, Pulmonary edema, Ventricular septal defect, Abnormal heart val... |
ORPHA:3384 |
Pseudopseudohypoparathyroidism |
|
Hyperphosphatemia, Hypocalcemia |
ORPHA:79445 |
Brugada Syndrome 2 |
|
Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr... |
OMIM:611777 |
Lipodystrophy-Intellectual Disability-Deafness Syndrome |
|
Progeroid facial appearance |
ORPHA:50811 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Exercise-induced rhabdomyolysis, Hepatomegaly, Sudden cardiac death, Cardiomegaly, Hepatocellular... |
OMIM:201475 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Hepatomegaly, Skin rash, Epidermal acanthosis, Pustule, Splenomegaly, Hyperkeratosis, Joint swell... |
OMIM:612852 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Excessive wrinkled skin, Hyperextensible skin, Progeroid facial appearance |
ORPHA:357058 |
Hemorrhagic Fever-Renal Syndrome |
|
Shock, Elevated hepatic transaminase, Tachycardia, Epistaxis, Hematemesis, Capillary leak, Intrac... |
ORPHA:340 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Tachycardia, Tricuspid regurgitation, Congestive heart failure, Flexion contracture, Abnormal hea... |
ORPHA:505248 |
Progressive Familial Heart Block, Type Ib |
|
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... |
OMIM:604559 |
Ehlers-Danlos Syndrome, Cardiac Valvular Type |
|
Soft skin, Hyperextensible skin, Bruising susceptibility |
OMIM:225320 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Tachycardia |
ORPHA:264675 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tachycardia |
OMIM:613239 |
Ventricular Fibrillation, Paroxysmal Familial, 2 |
|
Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction |
OMIM:612956 |
Singleton-Merten Syndrome 2 |
|
Psoriasiform lesion, Aortic valve calcification, Hyperkeratosis, Arrhythmia, Aortic valve stenosis |
OMIM:616298 |
Ogden Syndrome |
|
Cutis laxa |
ORPHA:276432 |
Chronic Actinic Dermatitis |
|
Late onset atopic dermatitis, Epidermal acanthosis, Eczema, Pruritus, Hypopigmented skin patches,... |
ORPHA:330064 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Pallor, ... |
ORPHA:99125 |
Ataxia-Telangiectasia |
|
Premature graying of hair, Telangiectasia of the skin, Prematurely aged appearance, Mucosal telan... |
ORPHA:100 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... |
OMIM:255120 |
Infantile Nephropathic Cystinosis |
|
Hypokalemia, Hypophosphatemia, Abnormal blood ion concentration, Glycosuria |
ORPHA:411629 |
Ogden Syndrome |
|
Redundant neck skin, Bicuspid aortic valve, Redundant skin, Cardiomegaly, Secundum atrial septal ... |
OMIM:300855 |
Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Depression, Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypoc... |
ORPHA:94089 |
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Excessive wrinkled skin |
ORPHA:137608 |
Rh Deficiency Syndrome |
|
Tachycardia, Jaundice, Hepatosplenomegaly, Intrauterine growth retardation, Oligohydramnios |
ORPHA:71275 |
Carney Triad |
|
Gastrointestinal hemorrhage, Tachycardia, Leiomyosarcoma, Hypertension, Arrhythmia, Ascites |
ORPHA:139411 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia |
OMIM:618849 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Lymphedema, Cardiomegaly |
ORPHA:3137 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ... |
OMIM:619051 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Hepatomegaly, Tachycardia, Splenomegaly, Syncope, Pallor, Hypotension |
ORPHA:98849 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Polyhydramnios, Cardiomegaly, Flexion contracture, Hydrops fetalis, Pl... |
OMIM:616897 |
Noonan Syndrome 8 |
|
Palmoplantar cutis laxa, Hyperkeratosis, Hyperextensible skin, Eczema |
OMIM:615355 |
Macular Degeneration, Age-Related, 3 |
|
Hyperextensible skin |
OMIM:608895 |
Macrocephaly/Autism Syndrome |
|
Cutis laxa |
OMIM:605309 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Redundant neck skin, Diastasis recti, Polyhydramnios, Large placenta, Flexion contracture, Macrog... |
ORPHA:254528 |
Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Hyperkeratosis, Epidermal acanthosis, Seborrheic dermatitis |
OMIM:610227 |
De Barsy Syndrome |
|
Progeroid facial appearance, Prominent veins on trunk, Cutis laxa, Excessive wrinkled skin, Derma... |
ORPHA:2962 |
Barber-Say Syndrome |
|
Premature skin wrinkling, Dry skin, Redundant skin, Dermal translucency |
OMIM:209885 |
Chronic Graft Versus Host Disease |
|
Elevated hepatic transaminase, Flexion contracture, Xerostomia, Intermittent generalized erythema... |
ORPHA:99921 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Short stature, Pallor, Hepatosplenomegaly |
OMIM:611590 |
Focal Facial Dermal Dysplasia 3, Setleis Type |
|
Aged leonine appearance |
OMIM:227260 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Cutis laxa, Hyperextensible skin, Follicular hyperkeratosis, Soft skin, Bruising susceptibility |
OMIM:614557 |
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
|
Hyperextensible skin, Bruising susceptibility, Poor wound healing, Dermal translucency |
OMIM:619115 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Epidermal acanthosis, Splenomegaly, Palmoplantar hyperkeratosis, Follicular hyperke... |
OMIM:617388 |
Thanatophoric Dysplasia Type 1 |
|
Excessive wrinkled skin, Redundant skin |
ORPHA:1860 |
Porphyria, Acute Intermittent |
|
Hypertension, Tachycardia, Hepatocellular carcinoma |
OMIM:176000 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Hepatomegaly, Jaundice, Pallor |
OMIM:613839 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Facial palsy, Congestive heart fa... |
ORPHA:31826 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Palmoplantar cutis laxa, Redundant skin, Neonatal death |
OMIM:616482 |
Deafness, Unilateral, With Delayed Endolymphatic Hydrops |
|
Edema |
OMIM:612097 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Decreased muscle mass, Cholangiocarcinoma, Portal hypertension, Cardiomegaly, Hepat... |
ORPHA:465508 |
Pheochromocytoma |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... |
OMIM:171300 |
Ichthyosis, Congenital, Autosomal Recessive 9 |
|
Orthokeratosis, Hyperkeratosis, Epidermal acanthosis, Erythroderma |
OMIM:615023 |
Stuve-Wiedemann Syndrome 1 |
|
Death in infancy, Premature skin wrinkling |
OMIM:601559 |
Imerslund-Gräsbeck Syndrome |
|
Abnormal bleeding, Tachycardia, Pallor |
ORPHA:35858 |
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Cutis laxa |
OMIM:270420 |
Arthrogryposis Multiplex Congenita 5 |
|
Death in infancy, Premature skin wrinkling |
OMIM:618947 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
Lymphangiectasia, Pulmonary, Congenital |
|
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... |
OMIM:265300 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Hypersplenism, Splenomegaly, Pericardial effusion, Pedal edema, Pulmonary arterial ... |
ORPHA:77259 |
Aicardi-Goutieres Syndrome 9 |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Acute pancreatitis, Edema, Portal hype... |
OMIM:619487 |
Refractory Anemia With Excess Blasts |
|
Abnormal bleeding, Anemic pallor, Retinal hemorrhage, Pedal edema, Palpitations |
ORPHA:86839 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Hypomagnesemia, Postprandial hype... |
ORPHA:79102 |
Mercury Poisoning |
|
Hypertension, Tachycardia, Hypotension |
ORPHA:330021 |
Fructose Intolerance, Hereditary |
|
Hypoglycemia, Bicarbonaturia, Hypophosphatemia, Hyperuricemia, Hyperbilirubinemia, Glycosuria |
OMIM:229600 |
Cold Agglutinin Disease |
|
Splenomegaly, Hepatomegaly, Pallor |
ORPHA:56425 |
Mucopolysaccharidosis, Type Iiib |
|
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly |
OMIM:252920 |
Irida Syndrome |
|
Intrahepatic cholestasis, Pallor |
ORPHA:209981 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Cutis laxa |
OMIM:614800 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t... |
ORPHA:29072 |
Beckwith-Wiedemann Syndrome |
|
Redundant skin, Congenital diaphragmatic hernia, Cardiomegaly, Polyhydramnios, Subchorionic septa... |
ORPHA:116 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Edema, Dehydration, Hypertension, Pallor, Hypotension |
ORPHA:134 |
Nicolaides-Baraitser Syndrome |
|
Excessive wrinkled skin, Premature skin wrinkling, Eczema, Periorbital wrinkles |
OMIM:601358 |
Marburg Hemorrhagic Fever |
|
Abnormal bleeding, Shock, Pericarditis, Tachycardia, Elevated hepatic transaminase, Excessive ble... |
ORPHA:99826 |
Corneal Dystrophy, Fuchs Endothelial, 2 |
|
Edema |
OMIM:610158 |
Ehlers-Danlos Syndrome, Classic-Like |
|
Poor wound healing, Hyperextensible skin, Soft skin, Bruising susceptibility, Striae distensae |
OMIM:606408 |
Neuroleptic Malignant Syndrome |
|
Elevated hepatic transaminase, Tachycardia, Pulmonary embolism, Rhabdomyolysis, Dehydration, Hype... |
ORPHA:94093 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Premature birth, Nonimmune hydrops fetalis, Cardiomegaly |
OMIM:618838 |
Tatton-Brown-Rahman Syndrome |
|
Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw... |
ORPHA:404443 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Death in infancy, Redundant skin, Progeroid facial appearance, Cutis laxa, Death in childhood |
OMIM:613177 |
Scarf Syndrome |
|
Cutis laxa |
ORPHA:3134 |
Werner Syndrome |
|
Miscarriage, Prematurely aged appearance, Telangiectasia of the skin, Lack of skin elasticity, Sk... |
ORPHA:902 |
Myelofibrosis |
|
Splenomegaly, Pallor, Purpura |
OMIM:254450 |
Short Qt Syndrome 2 |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... |
OMIM:609621 |
Palmoplantar Keratoderma, Punctate Type Ia |
|
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Epidermal acanthosis |
OMIM:148600 |
Fibrous Dysplasia Of Bone |
|
Diabetes mellitus, Hypercalcemia, Hypophosphatemia |
ORPHA:249 |
Retinitis Pigmentosa 51 |
|
Pallor |
OMIM:613464 |
Fg Syndrome Type 1 |
|
Facial wrinkling |
ORPHA:93932 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Parakeratosis, Epidermal nevus, Epidermal acanthosis, Flexion contracture, Erythema, Hyperkeratos... |
OMIM:308050 |
Pseudohypoparathyroidism, Type Ic |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia |
OMIM:612462 |
Pseudo-Torch Syndrome 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Cerebral hemorrhage, Secundum atrial septal defect, ... |
OMIM:617397 |
Acquired Partial Lipodystrophy |
|
Progeroid facial appearance |
ORPHA:79087 |
Cardiofaciocutaneous Syndrome |
|
Redundant skin, Hyperkeratosis, Excessive wrinkled skin, Hyperextensible skin, Palmoplantar kerat... |
ORPHA:1340 |
Cystinosis, Nephropathic |
|
Hyponatremia, Diabetes mellitus, Splenomegaly, Hypomagnesemia, Reduced blood urea nitrogen, Hypop... |
OMIM:219800 |
Fontaine Progeroid Syndrome |
|
Reduced subcutaneous adipose tissue, Death in infancy, Prominent superficial veins, Prematurely a... |
OMIM:612289 |
Myopathy, Mitochondrial, And Ataxia |
|
Short stature, Growth delay, Distal amyotrophy, Pallor, Increased variability in muscle fiber dia... |
OMIM:617675 |
Autosomal Dominant Hypocalcemia |
|
Depression, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Emotional lability |
ORPHA:428 |
Axenfeld-Rieger Syndrome |
|
Redundant skin |
ORPHA:782 |
Calciphylaxis |
|
Cutis marmorata, Abnormality of skin physiology, Skin ulcer |
ORPHA:280062 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Yellow papule, Congestive heart failure, Retinal he... |
OMIM:264800 |
Cholera |
|
Tachycardia, Dehydration, Hypovolemic shock, Hypotension, Palmoplantar cutis laxa |
ORPHA:173 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... |
OMIM:608836 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens... |
OMIM:614473 |
Cranioectodermal Dysplasia 3 |
|
Ectodermal dysplasia, Dry skin, Cutis laxa |
OMIM:614099 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Abnormal bleeding, Anemic pallor, Edema, Growth delay, Hematochezia |
ORPHA:329971 |
Short Qt Syndrome 7 |
|
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation |
OMIM:620231 |
Acute Radiation Syndrome |
|
Abnormal bleeding, Inflammatory abnormality of the skin, Skin ulcer, Telangiectasia, Hyperkeratos... |
ORPHA:454831 |
Opsismodysplasia |
|
Hypophosphatemia |
OMIM:258480 |
X-Linked Creatine Transporter Deficiency |
|
Redundant skin |
ORPHA:52503 |
Hypocomplementemic Urticarial Vasculitis |
|
Hepatomegaly, Abnormal heart valve morphology, Skin rash, Pericardial effusion, Pruritus, Splenom... |
ORPHA:36412 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Recurrent skin infections, Redundant skin, Hyperextensible skin, Bruising susceptibility, Subcuta... |
ORPHA:2953 |
Senior-Loken Syndrome 8 |
|
Pancreatic cysts, Pallor, Hepatic cysts, Intrahepatic bile duct dilatation |
OMIM:616307 |
Malignant Hyperthermia, Susceptibility To, 5 |
|
Tachycardia |
OMIM:601887 |
Kcnq2-Related Epileptic Encephalopathy |
|
Pallor, Cerebral edema, Facial erythema |
ORPHA:439218 |
Genetic Recurrent Myoglobinuria |
|
Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia |
ORPHA:99845 |
Mccune-Albright Syndrome |
|
Pancytopenia, Hypophosphatemia |
ORPHA:562 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove... |
ORPHA:324410 |
Heterotaxy, Visceral, 1, X-Linked |
|
Polyhydramnios, Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arterie... |
OMIM:306955 |
Refsum Disease, Classic |
|
Cardiomegaly, Congestive heart failure, Cardiomyopathy, Arrhythmia, Limb muscle weakness |
OMIM:266500 |
Familial Dysautonomia |
|
Abnormal peritoneum morphology, Orthostatic hypotension, Tachycardia, Growth delay, Hypertension |
ORPHA:1764 |
Alternating Hemiplegia Of Childhood |
|
Facial hypotonia, Cardiac conduction abnormality, Dehydration, Cardiomyopathy, Pallor, Abnormal T... |
ORPHA:2131 |
Alport Syndrome 3A, Autosomal Dominant |
|
Azotemia, Hypophosphatemia |
OMIM:104200 |
Trichorhinophalangeal Syndrome Type 2 |
|
Redundant skin |
ORPHA:502 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Premature graying of hair, Premature skin wrinkling |
ORPHA:363618 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Pallor, Cholelithiasis |
OMIM:194380 |
Dravet Syndrome |
|
Pallor |
ORPHA:33069 |
Bohring-Opitz Syndrome |
|
Cutis laxa |
OMIM:605039 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hyperphosphatemia, Hypercalcemia |
OMIM:617994 |
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Hyperextensible skin, Bruising susceptibility |
ORPHA:157965 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Elevated hepatic transaminase, Facial palsy, Limb muscle weakness, Left bundle branch block, Abno... |
OMIM:610131 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Parakeratosis, Epidermal acanthosis, Xerostomia, Hyperkeratosis, Dry skin |
OMIM:618527 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Proximal muscle weakness in upper limbs, Scapular winging, Abnormal EKG, Cardiomegaly, Right bund... |
ORPHA:268 |
C Syndrome |
|
Cutis laxa |
OMIM:211750 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hepatomegaly, Pallor |
OMIM:246450 |
Mogs-Cdg |
|
Hepatomegaly, Pulmonary edema, Edema, Cardiomegaly, Polyhydramnios, Hepatosplenomegaly, Atrial se... |
ORPHA:79330 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Hypoammonemia, Thrombocytopenia, Depression, Hypokalemia, Hypophosphatemia, Hyperch... |
ORPHA:534 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Prematurely aged appearance |
ORPHA:1387 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Subarachnoid hemorrhage, Card... |
OMIM:232300 |
Acute Intermittent Porphyria |
|
Proximal muscle weakness in upper limbs, Tachycardia, Proximal muscle weakness in lower limbs, Hy... |
ORPHA:79276 |
Atrial Tachyarrhythmia With Short Pr Interval |
|
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... |
OMIM:108950 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Skin rash, Prematurely aged appearance, Dry skin, Urticaria, Cutaneous photosensitivity |
ORPHA:220295 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Hemangioma-Thrombocytopenia Syndrome |
|
Ventricular arrhythmia |
OMIM:141000 |
Brugada Syndrome 6 |
|
ST segment elevation, Ventricular fibrillation, Cardiac arrest |
OMIM:613119 |
Gitelman Syndrome |
|
Prolonged QT interval, Rhabdomyolysis, Ventricular tachycardia, Growth delay, Palpitations, Hypot... |
OMIM:263800 |
Punctate Palmoplantar Keratoderma Type 1 |
|
Pancreatic adenocarcinoma, Epidermal acanthosis, Abnormal epidermal morphology, Verrucous papule,... |
ORPHA:79501 |
Hoyeraal-Hreidarsson Syndrome |
|
Premature graying of hair, Excessive wrinkled skin |
ORPHA:3322 |
Ehlers-Danlos Syndrome, Periodontal Type, 1 |
|
Prominent superficial veins, Poor wound healing, Hyperextensible skin, Palmoplantar cutis laxa, S... |
OMIM:130080 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Excessive wrinkled skin, Hyperextensible skin, Abnormality of subcutaneous fat tissue |
ORPHA:1901 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Growth delay, Hypertension, Orthostatic hypotension, Tachycardia |
OMIM:223900 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Elevated hepatic transaminase, Atrial fibrillation, Facial palsy, Edema, Quadriceps muscle weakne... |
ORPHA:254892 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:241410 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Redundant neck skin |
OMIM:617967 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Hyperextensible skin, Cutis laxa |
OMIM:245600 |
Barber-Say Syndrome |
|
Hyperextensible skin, Redundant skin |
ORPHA:1231 |
Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Fetal akinesia sequence, ... |
OMIM:617022 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Poor wound healing, Excessive wrinkled skin, Hyperextensible skin, Follicular hyperkeratosis, Pal... |
OMIM:225400 |
Arthrochalasia Ehlers-Danlos Syndrome |
|
Hyperextensible skin, Abnormality of subcutaneous fat tissue |
ORPHA:1899 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Parakeratosis, Epidermal acanthosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Corneal... |
OMIM:615225 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Facial hypotonia, Cardiomegaly, Left ventricular outflow tract obstruction, Shorten... |
ORPHA:308552 |
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse |
|
Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal acanthosis |
OMIM:615735 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Neonatal death, Stillbirth, Redundant neck skin |
OMIM:236500 |
Scarf Syndrome |
|
Cutis laxa |
OMIM:312830 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Hepatomegaly, Abnormal atrioventricular conduction, Supraventricular arrhythmia, Congestive heart... |
ORPHA:280365 |
Plague |
|
Abnormal bleeding, Hepatomegaly, Tachycardia, Edema, Hematemesis, Splenomegaly, Endocarditis, Ski... |
ORPHA:707 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
Tsh-Secreting Pituitary Adenoma |
|
Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Hypertension, Palpit... |
ORPHA:91347 |
Coffin-Lowry Syndrome |
|
Death in early adulthood, Redundant skin |
ORPHA:192 |
Pseudo-Torch Syndrome 3 |
|
Hypertension, Premature birth, Cerebral hemorrhage, Cardiomegaly |
OMIM:618886 |
Familial Hypocalciuric Hypercalcemia |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures |
ORPHA:405 |
Keppen-Lubinsky Syndrome |
|
Premature skin wrinkling, Progeroid facial appearance |
ORPHA:435628 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:620066 |
Pseudohypoparathyroidism, Type Ia |
|
Hypocalcemic tetany, Hyperphosphatemia |
OMIM:103580 |
Meckel Syndrome, Type 1 |
|
Accessory spleen, Occipital encephalocele, Camptodactyly of finger, Malformation of the hepatic d... |
OMIM:249000 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Elevated hepatic transaminase, Hepatosplenomegaly, Growth delay, Pallor, Elevated hepatic iron co... |
ORPHA:300298 |
Raine Syndrome |
|
Hypophosphatemia |
OMIM:259775 |
Q Fever |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Peric... |
ORPHA:781 |
Fumarase Deficiency |
|
Polyhydramnios, Intrahepatic cholestasis, Perimembranous ventricular septal defect, Pallor, Hepat... |
OMIM:606812 |
Autosomal Recessive Malignant Osteopetrosis |
|
Splenomegaly, Hypocalcemia, Anemia, Hypophosphatemia |
ORPHA:667 |
Kagami-Ogata Syndrome |
|
Premature birth, Diastasis recti, Polyhydramnios, Large placenta, Hepatoblastoma |
ORPHA:254519 |
Greenberg Dysplasia |
|
Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Echogenic fetal bowel, Large placenta, I... |
OMIM:215140 |
Immunodeficiency 47 |
|
Death in infancy, Prolonged neonatal jaundice, Cutis laxa |
OMIM:300972 |
Ectodermal Dysplasia/Short Stature Syndrome |
|
Hyperkeratosis, Palmoplantar keratoderma, Epidermal acanthosis |
OMIM:616029 |
Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Depression, Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypoc... |
ORPHA:79444 |
Elliptocytosis 1 |
|
Splenomegaly, Jaundice, Pallor |
OMIM:611804 |
Kid Syndrome |
|
Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit... |
ORPHA:477 |
Weaver Syndrome |
|
Cutis laxa |
OMIM:277590 |
Specific Granule Deficiency 2 |
|
Death in infancy, Hyperextensible skin, Death in childhood |
OMIM:617475 |
Heart Block, Congenital |
|
Atrioventricular block, Myocardial fibrosis, Myocardial calcification, Absent atrioventricular no... |
OMIM:234700 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Prominent scalp veins, Soft, doughy skin, Cutis laxa, Hyperextensible skin, Soft skin |
ORPHA:536471 |
Cockayne Syndrome |
|
Reduced subcutaneous adipose tissue, Premature skin wrinkling, Malar rash, Cutaneous photosensiti... |
ORPHA:191 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Hyperphosphatemia |
OMIM:211900 |
Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
Sheehan Syndrome |
|
Orthostatic hypotension, Palpitations, Bradycardia, Pallor, Dry skin |
ORPHA:91355 |
Combined Oxidative Phosphorylation Deficiency 5 |
|
Death in infancy, Redundant neck skin |
OMIM:611719 |
Dent Disease |
|
Renal hypophosphatemia, Elevated circulating creatine kinase concentration, Glycosuria |
ORPHA:1652 |
Degcags Syndrome |
|
Hepatomegaly, Tachycardia, Ventricular septal defect, Polyhydramnios, Cholestasis, Hepatosplenome... |
OMIM:619488 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Hyperkeratosis, Erythema, Palmoplantar keratoderma, Epidermal acanthosis |
OMIM:242100 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Soft skin, Hyperextensible skin, Fragile skin, Bruising susceptibility |
OMIM:617821 |
Ablepharon-Macrostomia Syndrome |
|
Premature skin wrinkling, Dry skin, Redundant skin |
OMIM:200110 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Hypertension, Pulmonary arterial hypertension, Cardiomegaly |
OMIM:613320 |
Focal Facial Dermal Dysplasia Type Iv |
|
Intracranial hemorrhage, Abnormal epidermal morphology, Nevus |
ORPHA:398189 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Camptodactyly of finger, Cardiomegaly, Retroperitoneal f... |
OMIM:602782 |
Diamond-Blackfan Anemia 1 |
|
Ventricular septal defect, Tricuspid stenosis, Short stature, Congestive heart failure, Small the... |
OMIM:105650 |
Arterial Tortuosity Syndrome |
|
Telangiectasia of the skin, Hyperextensible skin, Prematurely aged appearance, Redundant skin |
ORPHA:3342 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Premature graying of hair, Palmoplantar keratoderma, Reduced subcutaneous adipose tissue, Lack of... |
ORPHA:1979 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Hepatomegaly, Redundant neck skin, Ventricular septal defect, Interphalangeal joint contracture o... |
ORPHA:96334 |
Laron Syndrome |
|
Prematurely aged appearance |
ORPHA:633 |
Necrotizing Enterocolitis |
|
Shock, Edema, Peritonitis, Abnormal heart morphology, Bradycardia, Hypotension, Ascites |
ORPHA:391673 |
Pheochromocytoma/Paraganglioma Syndrome 4 |
|
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:115310 |
Opitz-Kaveggia Syndrome |
|
Facial wrinkling |
OMIM:305450 |
Short Syndrome |
|
Excessive wrinkled skin |
ORPHA:3163 |
Familial Aortic Dissection |
|
Aortic regurgitation, Patent ductus arteriosus, Abnormal left ventricular function, Cardiomegaly |
ORPHA:229 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Excessive wrinkled skin, Jaundice, Death in infancy |
OMIM:608779 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomegaly, Congestive heart failure, Cardiomyopathy, Limb muscle weakness, Increased hepatic g... |
OMIM:619259 |
Pearson Marrow-Pancreas Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Erythema, Hydrops fetalis, Dehy... |
OMIM:557000 |
Letterer-Siwe Disease |
|
Jaundice, Pallor, Hepatosplenomegaly |
OMIM:246400 |
Pulmonary Capillary Hemangiomatosis |
|
Pulmonary edema, Diffuse alveolar hemorrhage, Pericardial effusion, Right ventricular failure, Pe... |
ORPHA:199241 |
Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Poor wound healing, Hyperextensible skin, Soft skin, Bruising susceptibility, Fragile skin |
OMIM:130000 |
Sandhoff Disease |
|
Hepatomegaly, Skeletal muscle atrophy, Orthostatic hypotension, Cardiomegaly, Hepatosplenomegaly,... |
OMIM:268800 |
Brugada Syndrome 5 |
|
ST segment elevation, Bundle branch block, Ventricular fibrillation |
OMIM:612838 |
Classic Phenylketonuria |
|
Eczema, Lack of skin elasticity |
ORPHA:79254 |
Beck-Fahrner Syndrome |
|
Facial hypotonia, Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Hyperextensible skin, Bruising susceptibility |
ORPHA:230839 |
Renal Nutcracker Syndrome |
|
Orthostatic hypotension, Syncope, Tachycardia |
ORPHA:71273 |
Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Multiple joint contractures, Cardiomegaly, Fetal akinesia sequence, Preauricular sk... |
OMIM:618143 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Progeroid facial appearance |
OMIM:608154 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Pallor, Hepatosplenomegaly |
ORPHA:331206 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Dehydration, Mac... |
ORPHA:96191 |
Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Patent ductus arteriosus, Aortic v... |
ORPHA:1457 |
Xfe Progeroid Syndrome |
|
Cutaneous photosensitivity, Dry skin, Prematurely aged appearance, Death in adolescence |
OMIM:610965 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
Kaposiform Lymphangiomatosis |
|
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Pancreatic cysts, Splenomegaly, Pericardial ef... |
ORPHA:464329 |
Sanjad-Sakati Syndrome |
|
Hyperphosphatemia, Hypocalcemia |
ORPHA:2323 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Redundant skin, Cutis laxa, Lack of skin elasticity |
ORPHA:90349 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Hypercalcemia, Hypophosphatemia |
ORPHA:99880 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Bruising susceptibility, Hyperextensible skin, Redundant skin, Prominent veins on trunk |
ORPHA:536532 |
B4Galt1-Cdg |
|
Inflammatory abnormality of the skin, Redundant neck skin |
ORPHA:79332 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Pulmonary edema, Orthostatic hypotension due to autonomic dysfunction, Cardiomegaly |
OMIM:105210 |
Hereditary Folate Malabsorption |
|
Skeletal muscle atrophy, Pallor |
ORPHA:90045 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
Lipodystrophy, Familial Partial, Type 7 |
|
Reduced subcutaneous adipose tissue, Decreased adipose tissue around neck, Cutis marmorata, Lack ... |
OMIM:606721 |
Pituitary Apoplexy |
|
Hypertension, Pallor, Hypotension |
ORPHA:95613 |
Parathyroid Carcinoma |
|
Hypercalcemia, Hypophosphatemia |
ORPHA:143 |
Gaucher Disease Type 3 |
|
Hepatomegaly, Mitral valve calcification, Abnormal heart valve morphology, Pericardial effusion, ... |
ORPHA:77261 |
Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Depression, Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypoc... |
ORPHA:79443 |
Diamond-Blackfan Anemia 6 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:612561 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia |
OMIM:239000 |
Infection-Related Hemolytic Uremic Syndrome |
|
Edema, Myocarditis, Hypertension, Pleural empyema, Pallor, Pancreatitis, Hypertensive crisis, Gen... |
ORPHA:544482 |
Recon Progeroid Syndrome |
|
Progeroid facial appearance, Livedo reticularis, Dry skin, Scaling skin, Cutaneous photosensitivity |
OMIM:620370 |
Wiedemann-Rautenstrauch Syndrome |
|
Reduced subcutaneous adipose tissue, Prominent scalp veins, Prematurely aged appearance, Prematur... |
OMIM:264090 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Cardiomegaly, Heart block, Hepatic calcification, Cardiomyopathy, Abnormal myocardi... |
ORPHA:228308 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Reduced subcutaneous adipose tissue, Redundant skin, Cutis laxa |
OMIM:617403 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Prominent superficial veins, Hyperextensible skin, Bruising susceptibility |
OMIM:612350 |
Lysinuric Protein Intolerance |
|
Hyperextensible skin, Cutis laxa |
OMIM:222700 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Prominent scalp veins, Cutis marmorata, Cutis laxa |
OMIM:151050 |
Cantú Syndrome |
|
Abnormal heart valve morphology, Cardiomegaly, Patent ductus arteriosus, Umbilical hernia, Hypert... |
ORPHA:1517 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Splenomegaly, Jaundice, Pallor, Prolonged neonatal jaundice |
OMIM:300908 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia |
ORPHA:289176 |
Fucosidosis |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Flexion contracture, Dry skin, Macroglossia, Bruising s... |
OMIM:230000 |
Prolactinoma |
|
Pallor, Hypotension, Delayed puberty |
ORPHA:2965 |
Hyperthyroidism, Nonautoimmune |
|
Tachycardia |
OMIM:609152 |
Liver Disease, Severe Congenital |
|
Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Elevated hepatic iron conc... |
OMIM:619991 |
Non-Functioning Pituitary Adenoma |
|
Pallor, Hypotension |
ORPHA:91349 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Splenomegaly,... |
OMIM:231005 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Prematurely aged appearance, Lack of skin elasticity, Progeroid facial appearance |
ORPHA:90153 |
Sickle Cell Disease |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Splenic infarction, Hypertension, Cholelithiasis |
OMIM:603903 |
Hutchinson-Gilford Progeria Syndrome |
|
Prominent superficial blood vessels, Cyanosis, Lack of skin elasticity, Premature skin wrinkling,... |
ORPHA:740 |
Multiple Endocrine Neoplasia Type 2 |
|
Proximal amyotrophy, Neoplasm of the liver, Palpitations, Pallor, Hypertensive crisis, Hypertensi... |
ORPHA:653 |
Antisynthetase Syndrome |
|
Pruritus, Telangiectasia of the skin, Skin rash, Lack of skin elasticity |
ORPHA:81 |
Fanconi Anemia, Complementation Group E |
|
Bruising susceptibility, Anemic pallor, Short stature, Abnormal heart morphology |
OMIM:600901 |
Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
Abetalipoproteinemia |
|
Abnormal bleeding, Hepatomegaly, Elevated hepatic transaminase, Cardiomegaly, Congestive heart fa... |
ORPHA:14 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Anemia |
ORPHA:93325 |
Adenohypophysitis |
|
Orthostatic hypotension, Pallor |
ORPHA:95512 |
Wiedemann-Rautenstrauch Syndrome |
|
Reduced subcutaneous adipose tissue, Prominent scalp veins, Recurrent skin infections, Increased ... |
ORPHA:3455 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Soft skin, Cutis laxa, Dermal translucency |
OMIM:614437 |
Fanconi Anemia, Complementation Group C |
|
Short stature, Ventricular septal defect, Anemic pallor, Flexion contracture, Intrauterine growth... |
OMIM:227645 |
Odontoonychodermal Dysplasia |
|
Plantar hyperkeratosis, Epidermal acanthosis, Erythema, Palmoplantar hyperkeratosis, Follicular h... |
OMIM:257980 |
Recombinant 8 Syndrome |
|
Redundant skin |
ORPHA:96167 |
Epidermodysplasia Verruciformis, Susceptibility To, 3 |
|
Palmar pits, Epidermal acanthosis |
OMIM:618267 |
Fanconi Anemia, Complementation Group A |
|
Bruising susceptibility, Anemic pallor, Short stature, Abnormal heart morphology |
OMIM:227650 |
Alg12-Cdg |
|
Redundant skin |
ORPHA:79324 |
Panhypophysitis |
|
Orthostatic hypotension, Pallor |
ORPHA:95513 |
Incontinentia Pigmenti |
|
Pallor, Erythema, Short stature, Retinal hemorrhage |
OMIM:308300 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Hepatomegaly, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Epidermal a... |
ORPHA:83617 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertensi... |
OMIM:208000 |
Trichothiodystrophy 5, Nonphotosensitive |
|
Cutaneous photosensitivity, Cutis marmorata, Progeroid facial appearance |
OMIM:300953 |
Anemia, Sideroblastic, 1 |
|
Anemic pallor |
OMIM:300751 |
Aregenerative Anemia |
|
Abnormal bleeding, Bruising susceptibility, Pallor |
ORPHA:101096 |
Tay-Sachs Disease |
|
Pallor |
OMIM:272800 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Prolonged QT interval, Tachycardia, Bicuspid aortic valve, Short stature, Delayed puberty, Muscle... |
ORPHA:1772 |
Cone-Rod Dystrophy 8 |
|
Pallor |
OMIM:605549 |
Werner Syndrome |
|
Prematurely aged appearance, Progeroid facial appearance, Subcutaneous calcification |
OMIM:277700 |
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Hypohidrotic ectodermal dysplasia, Periorbital wrinkles |
OMIM:224900 |
Occipital Horn Syndrome |
|
Soft skin, Hyperextensible skin, Redundant skin, Bruising susceptibility |
OMIM:304150 |
Ablepharon Macrostomia Syndrome |
|
Excessive wrinkled skin, Dry skin, Redundant skin |
ORPHA:920 |
Noonan Syndrome With Multiple Lentigines |
|
Excessive wrinkled skin, Hyperextensible skin |
ORPHA:500 |
X-Linked Hypophosphatemia |
|
Hypophosphatemia |
ORPHA:89936 |
Wrinkly Skin Syndrome |
|
Palmoplantar cutis laxa, Neonatal wrinkled skin of hands and feet, Redundant skin, Progeroid faci... |
OMIM:278250 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Diastasis recti, Hepatoblastoma, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopat... |
OMIM:130650 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Facial hypotonia, Transient ischemic attack, Glycogen accumulation in muscle fiber ... |
ORPHA:365 |
Gapo Syndrome |
|
Hyperextensible skin, Prematurely aged appearance |
ORPHA:2067 |
Gapo Syndrome |
|
Prominent scalp veins, Redundant skin |
OMIM:230740 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Cutis laxa |
OMIM:266920 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Premature birth, Cardiomegaly, Patent ductus arteriosus, Partial anoma... |
ORPHA:95430 |
Neonatal Inflammatory Skin And Bowel Disease |
|
Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Pustule, Erythema, Sca... |
ORPHA:294023 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Thickened nuchal skin fold, Limb hypertonia, Tricuspid regurgitation, Cardiomegaly |
OMIM:620306 |
Mucolipidosis Ii Alpha/Beta |
|
Aortic regurgitation, Hepatomegaly, Palpebral edema, Diastasis recti, Cardiomegaly, Splenomegaly,... |
OMIM:252500 |
Cranioectodermal Dysplasia 2 |
|
Ectodermal dysplasia, Cutis laxa |
OMIM:613610 |
Diamond-Blackfan Anemia |
|
Ventricular septal defect, Nonimmune hydrops fetalis, Short stature, Abnormal heart morphology, G... |
ORPHA:124 |
Scleromyxedema |
|
Pruritus, Generalized abnormality of skin, Aged leonine appearance |
ORPHA:167635 |
Neonatal Marfan Syndrome |
|
Cutis laxa |
ORPHA:284979 |
Scalp-Ear-Nipple Syndrome |
|
Palpebral edema, Short stature, Cardiac myxoma, Congestive heart failure, Hypertension, Supravent... |
OMIM:181270 |
Bohring-Opitz Syndrome |
|
Facial hypotonia, Cardiomegaly, Bilateral wrist flexion contracture, Naevus flammeus of the eyeli... |
ORPHA:97297 |
Campomelia, Cumming Type |
|
Death in infancy, Prematurely aged appearance |
ORPHA:1318 |
Esophageal Atresia |
|
Ventricular septal defect, Polyhydramnios, Growth delay, Pallor, Tetralogy of Fallot |
ORPHA:1199 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Prematurely aged appearance, Lack of facial subcutaneous fat, Progeroid facial appearance |
ORPHA:2959 |
Steinert Myotonic Dystrophy |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Atrial fibrillation, Prolonged QRS comple... |
ORPHA:273 |
Plummer-Vinson Syndrome |
|
Pallor |
ORPHA:54028 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Sudden cardiac death, Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Hep... |
ORPHA:73224 |
Childhood Absence Epilepsy |
|
Pallor |
ORPHA:64280 |
Lead Poisoning |
|
Decreased HDL cholesterol concentration, Imbalanced hemoglobin synthesis, Depression, Abnormal T ... |
ORPHA:330015 |
Fountain Syndrome |
|
Erythema, Hyperextensible skin, Cutis marmorata |
ORPHA:3219 |
Cardiofaciocutaneous Syndrome 4 |
|
Hyperextensible skin, Palmoplantar hyperkeratosis |
OMIM:615280 |
Huriez Syndrome |
|
Congenital palmoplantar hyperkeratosis, Epidermal acanthosis |
OMIM:181600 |
Wrinkly Skin Syndrome |
|
Excessive wrinkled skin, Excessive skin wrinkling on dorsum of hands and fingers, Prominent veins... |
ORPHA:2834 |
Bone Dysplasia, Lethal Holmgren Type |
|
Redundant neck skin |
ORPHA:1842 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, ... |
ORPHA:3427 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Short stature, Congenital diaphragmatic hernia, Junc... |
OMIM:309801 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Aortic regurgitation, Bicuspid aortic valve, Transient ischemic attack, Subarachnoid hemorrhage, ... |
ORPHA:91387 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Reduced subcutaneous adipose tissue, Prominent superficial veins, Cutis laxa |
OMIM:617402 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Reduced subcutaneous adipose tissue, Erythema, Atopic dermatitis, Cutis laxa, Facial erythema, Ur... |
OMIM:619503 |
Homozygous Familial Hypercholesterolemia |
|
Angina pectoris, Myocardial infarction, Sudden cardiac death, Tendon xanthomatosis, Heart murmur,... |
ORPHA:391665 |
Fanconi Anemia, Complementation Group D2 |
|
Anemic pallor, Short stature, Abnormal heart morphology, Annular pancreas, Bruising susceptibility |
OMIM:227646 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Small hypothenar eminence, Hypoplasia of the musculature, Thenar muscle atrophy, Cardiomegaly, Mu... |
ORPHA:2463 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Hyperphosphatemia |
OMIM:101800 |
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Ectodermal dysplasia, Dry skin, Periorbital wrinkles |
OMIM:614941 |
Aarskog-Scott Syndrome |
|
Hyperextensible skin |
ORPHA:915 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Polyhydramnios, Pericardial effusion, Hematochezia, Anasarca, Pleural effusion, Ascites |
OMIM:618183 |
Ataxia-Telangiectasia-Like Disorder 2 |
|
Conjunctival telangiectasia, Progeroid facial appearance, Cutaneous photosensitivity, Cutaneous t... |
OMIM:615919 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Death in early adulthood, Prominent superficial veins, Decreased adipose tissue around neck, Prog... |
OMIM:608612 |
Trichothiodystrophy |
|
Congenital exfoliative erythroderma, Prematurely aged appearance, Eczema, Dry skin, Cutaneous pho... |
ORPHA:33364 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Progeroid facial appearance |
OMIM:617763 |
Diastrophic Dysplasia |
|
Hyperextensible skin |
ORPHA:628 |
Aicardi-Goutières Syndrome |
|
Elevated hepatic transaminase, Myositis, Multiple joint contractures, Chilblains, Cardiomegaly, R... |
ORPHA:51 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Prematurely aged appearance, Redundant skin |
ORPHA:2658 |
Premature Aging Syndrome, Penttinen Type |
|
Hyperkeratosis, Prominent superficial veins, Prematurely aged appearance, Palmoplantar hyperkerat... |
OMIM:601812 |
Sarcoidosis |
|
Hepatomegaly, Abnormal cardiac ventricular function, Facial palsy, Portal hypertension, Heart blo... |
ORPHA:797 |
Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Flexion contracture, Atrioventricular block, Macrogloss... |
ORPHA:581 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Reduced subcutaneous adipose tissue, Excessive wrinkled skin, Hyperextensible skin, Prematurely a... |
OMIM:619950 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Camptodactyly of finger, Ca... |
OMIM:256040 |
Acrofrontofacionasal Dysostosis 2 |
|
Redundant neck skin |
OMIM:239710 |
Osteogenesis Imperfecta |
|
Bruising susceptibility, Cutis laxa |
ORPHA:666 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Soft, doughy skin, Hyperextensible skin, Dermal translucency |
ORPHA:541423 |
Acromesomelic Dysplasia 1 |
|
Redundant skin on fingers |
OMIM:602875 |
Pelviscapular Dysplasia |
|
Redundant neck skin |
ORPHA:93333 |
Spondylo-Ocular Syndrome |
|
Hyperextensible skin |
ORPHA:85194 |
Coffin-Lowry Syndrome |
|
Acrocyanosis, Cutis marmorata, Cutis laxa |
OMIM:303600 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Soft, doughy skin, Hyperextensible skin, Bruising susceptibility, Poor wound healing |
ORPHA:230851 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Elevated amniotic fluid alpha-fetoprotein, HbH hemoglobin |
ORPHA:423479 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Progeroid facial appearance |
ORPHA:412057 |
Exercise-Induced Malignant Hyperthermia |
|
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypocalcemia... |
ORPHA:466650 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Patent du... |
OMIM:300967 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Microvesicular hepatic steatosis, Hepatosple... |
OMIM:618278 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Prematurely aged appearance, Progeroid facial appearance |
ORPHA:90154 |
Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Transient ischemic attack, Edema, Cardiomegaly, Pericardial effusion, Po... |
ORPHA:51608 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... |
OMIM:617052 |
Down Syndrome |
|
Prematurely aged appearance |
ORPHA:870 |
Kosaki Overgrowth Syndrome |
|
Hyperextensible skin, Fragile skin |
OMIM:616592 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Redundant skin in infancy, Dry skin, Cutis laxa |
OMIM:150230 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Abnormal hemoglobin, Anemia, Depression |
ORPHA:847 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Eczema, Hypohidrotic ectodermal dysplasia, Periorbital wrinkles, Soft skin, Dry skin |
OMIM:305100 |
Cockayne Syndrome B |
|
Reduced subcutaneous adipose tissue, Prematurely aged appearance, Progeroid facial appearance, Dr... |
OMIM:133540 |
Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Hyperextensible skin |
ORPHA:1185 |
Loeys-Dietz Syndrome 4 |
|
Hyperextensible skin, Bruising susceptibility, Striae distensae |
OMIM:614816 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy... |
OMIM:260400 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Pallor |
OMIM:616959 |
Viss Syndrome |
|
Prominent superficial blood vessels, Eczema, Atopic dermatitis, Cutis laxa, Hyperextensible skin,... |
OMIM:619472 |
Carpenter Syndrome 2 |
|
Cutis laxa |
OMIM:614976 |
Noonan Syndrome 10 |
|
Palmoplantar cutis laxa, Hyperkeratosis, Hyperextensible skin |
OMIM:616564 |
Fibromuscular Dysplasia, Multifocal |
|
Soft skin, Hyperextensible skin, Soft, doughy skin, Striae distensae, Dermal translucency |
OMIM:619329 |
Cockayne Syndrome Type 2 |
|
Progeroid facial appearance |
ORPHA:90322 |
Thymoma |
|
Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis |
ORPHA:99867 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Redundant neck skin |
OMIM:301056 |
Classical Ehlers-Danlos Syndrome |
|
Prematurely aged appearance, Poor wound healing, Bruising susceptibility, Hyperextensible skin, S... |
ORPHA:287 |
Chromosome Xp11.3 Deletion Syndrome |
|
Progeroid facial appearance |
OMIM:300578 |
Atypical Werner Syndrome |
|
Prominent superficial veins, Prematurely aged appearance, Telangiectasia of the skin, Progeroid f... |
ORPHA:79474 |
Tetrasomy 5P |
|
Redundant neck skin, Cyanosis |
ORPHA:3309 |
Emanuel Syndrome |
|
Redundant neck skin |
ORPHA:96170 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Death in infancy, Redundant neck skin |
OMIM:235255 |
Noonan Syndrome 2 |
|
Palmoplantar cutis laxa, Hyperkeratosis, Hyperextensible skin |
OMIM:605275 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Redundant neck skin |
OMIM:617360 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:619769 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Reduced subcutaneous adipose tissue, Bruising susceptibility, Progeroid facial appearance |
OMIM:616914 |
Saul-Wilson Syndrome |
|
Prominent superficial veins, Progeroid facial appearance |
OMIM:618150 |
C Syndrome |
|
Death in infancy, Redundant skin |
ORPHA:1308 |
Cockayne Syndrome A |
|
Reduced subcutaneous adipose tissue, Prematurely aged appearance, Progeroid facial appearance, Dr... |
OMIM:216400 |
Williams-Beuren Syndrome |
|
Soft skin, Premature graying of hair, Cutis laxa |
OMIM:194050 |
Zaki Syndrome |
|
Hyperextensible skin |
OMIM:619648 |
Brittle Cornea Syndrome |
|
Soft skin, Hyperextensible skin, Bruising susceptibility |
ORPHA:90354 |
Yunis-Varon Syndrome |
|
Redundant neck skin, Ventricular septal defect, Polyhydramnios, Cardiomegaly, Increased nuchal tr... |
ORPHA:3472 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Hyperextensible skin, Fragile skin, Bruising susceptibility, Poor wound healing |
ORPHA:1900 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Redundant neck skin |
ORPHA:2519 |
Xeroderma Pigmentosum, Complementation Group B |
|
Cutaneous photosensitivity, Progeroid facial appearance |
OMIM:610651 |
Williams Syndrome |
|
Bicuspid aortic valve, Redundant skin, Myocardial infarction, Cardiomegaly, Periorbital edema, At... |
ORPHA:904 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Redundant skin |
OMIM:250220 |
Kleefstra Syndrome Due To A Point Mutation |
|
Hyperextensible skin |
ORPHA:261652 |
Nestor-Guillermo Progeria Syndrome |
|
Prominent superficial veins, Dry skin, Progeroid facial appearance |
OMIM:614008 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Prolonged neonatal jaundice, Redundant neck skin, Death in childhood |
OMIM:214100 |
Marshall-Smith Syndrome |
|
Ventricular septal defect, Short stature, Premature ventricular contraction, Hypertension, Umbili... |
OMIM:602535 |
Chromosome 18P Deletion Syndrome |
|
Redundant neck skin |
OMIM:146390 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Poor wound healing, Hyperextensible skin, Follicular hyperkeratosis, Soft, doughy skin, Bruising ... |
ORPHA:536545 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:301040 |
Seckel Syndrome |
|
Prematurely aged appearance |
ORPHA:808 |
Cockayne Syndrome Type 1 |
|
Cutaneous photosensitivity, Progeroid facial appearance |
ORPHA:90321 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Palmoplantar cutis laxa, Redundant neck skin |
OMIM:123790 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Redundant neck skin |
OMIM:217980 |
Legius Syndrome |
|
Paroxysmal atrial tachycardia, Short stature, Pulmonic stenosis, Mitral valve prolapse |
ORPHA:137605 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Increased number of skin folds |
ORPHA:2505 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Hyperkeratosis, Hyperextensible skin, Eczema |
OMIM:607721 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Soft, doughy skin, Hyperextensible skin, Bruising susceptibility, Dermal translucency |
ORPHA:536467 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Pallor, Muscular dystrophy |
OMIM:253280 |
Papillorenal Syndrome |
|
Soft skin, Hyperextensible skin |
OMIM:120330 |
Vascular Ehlers-Danlos Syndrome |
|
Prematurely aged appearance, Redundant skin, Telangiectasia of the skin, Excessive wrinkled skin,... |
ORPHA:286 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Hyperextensible skin, Minimal subcutaneous fat |
OMIM:182212 |
Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development |
|
Redundant neck skin |
OMIM:604314 |
Flna-Related X-Linked Myxomatous Valvular Dysplasia |
|
Hyperextensible skin |
ORPHA:555877 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Redundant neck skin |
ORPHA:1655 |
Goodpasture Syndrome |
|
Pallor, Pulmonary hemorrhage |
OMIM:233450 |
Cerebrotendinous Xanthomatosis |
|
Prematurely aged appearance, Prolonged neonatal jaundice |
ORPHA:909 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Redundant neck skin |
ORPHA:397715 |
Menkes Disease |
|
Spontaneous hematomas, Hyperextensible skin, Dry skin, Prolonged neonatal jaundice |
ORPHA:565 |
Acquired Generalized Lipodystrophy |
|
Progeroid facial appearance |
ORPHA:79086 |
Frank-Ter Haar Syndrome |
|
Redundant neck skin, Acne |
OMIM:249420 |
Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Congestive heart failure, P... |
OMIM:182250 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Recurrent skin infections, Hyperextensible skin, Ecchymosis, Bruising susceptibility, Fragile skin |
OMIM:601776 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Progeroid facial appearance, Palmoplantar hyperkeratosis, Death in childhood |
OMIM:619127 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Soft, doughy skin, Hyperextensible skin, Fragile skin |
OMIM:271640 |
Shprintzen-Goldberg Syndrome |
|
Hyperextensible skin |
ORPHA:2462 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Redundant neck skin |
OMIM:618164 |
Keppen-Lubinsky Syndrome |
|
Lack of facial subcutaneous fat, Progeroid facial appearance |
OMIM:614098 |
Leprechaunism |
|
Reduced subcutaneous adipose tissue, Hyperkeratosis, Hyperextensible skin |
ORPHA:508 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Soft skin, Redundant neck skin, Eczema |
OMIM:617157 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Poor wound healing, Ecchymosis, Hyperextensible skin, Skin ulcer |
ORPHA:2072 |
Occipital Horn Syndrome |
|
Jaundice, Hyperextensible skin, Bruising susceptibility |
ORPHA:198 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Hyperextensible skin |
ORPHA:508498 |
Branchioskeletogenital Syndrome |
|
Periorbital wrinkles |
ORPHA:1299 |
Mend Syndrome |
|
Redundant neck skin |
OMIM:300960 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Hyperextensible skin |
ORPHA:1974 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Hyperextensible skin |
OMIM:130070 |
Zttk Syndrome |
|
Hyperextensible skin |
OMIM:617140 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Hyperextensible skin, Ecchymosis, Bruising susceptibility, Fragile skin, Dermal translucency |
OMIM:130050 |
Down Syndrome |
|
Redundant neck skin |
OMIM:190685 |
Costello Syndrome |
|
Redundant neck skin |
OMIM:218040 |
Hypermobile Ehlers-Danlos Syndrome |
|
Soft skin, Acrocyanosis, Hyperextensible skin |
ORPHA:285 |
Gabriele-De Vries Syndrome |
|
Hyperextensible skin |
ORPHA:506358 |
Okamoto Syndrome |
|
Redundant neck skin |
ORPHA:2729 |
Yunis-Varon Syndrome |
|
Redundant neck skin, Palmoplantar hyperkeratosis |
OMIM:216340 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Hyperextensible skin |
OMIM:149730 |