Central Centrifugal Cicatricial Alopecia |
|
Scarring alopecia of scalp |
OMIM:618352 |
Alopecia-Intellectual Disability Syndrome 3 |
|
Alopecia universalis |
OMIM:613930 |
Alopecia-Intellectual Disability Syndrome 2 |
|
Alopecia universalis |
OMIM:610422 |
Alopecia Areata 2 |
|
Alopecia of scalp, Alopecia universalis, Patchy alopecia, Alopecia totalis |
OMIM:610753 |
Alopecia Totalis |
|
Alopecia, Alopecia of scalp |
ORPHA:700 |
Alopecia, Familial Focal |
|
Patchy alopecia |
OMIM:104110 |
Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
Alopecia-Intellectual Disability Syndrome 1 |
|
Alopecia, Alopecia universalis |
OMIM:203650 |
Alopecia, Congenital |
|
Alopecia, Sparse hair |
OMIM:300042 |
Alopecia Universalis Congenita |
|
Absent eyelashes, Alopecia universalis, Absent pubic hair, Absent eyebrow, Absent axillary hair |
OMIM:203655 |
Alopecia Universalis |
|
Absent eyelashes, Absent eyebrow, Alopecia universalis, Patchy alopecia |
ORPHA:701 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
Congenital alopecia totalis, Ridged nail, T lymphocytopenia, Nail pits |
ORPHA:169095 |
Testicular Torsion |
|
Testicular torsion, Torsion of appendix of testis |
OMIM:187400 |
Hypotrichosis Simplex |
|
Sparse body hair, Alopecia, Sparse eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse hair |
ORPHA:55654 |
Testicular Microlithiasis |
|
Testicular microlithiasis |
OMIM:610441 |
Hypotrichosis 4 |
|
Sparse body hair, Alopecia, Sparse eyebrow, Sparse scalp hair, Uncombable hair, Sparse eyelashes |
OMIM:146550 |
Hypotrichosis 11 |
|
Aplasia/Hypoplasia of the eyebrow, Alopecia universalis, Sparse hair, Absent axillary hair, Spars... |
OMIM:615059 |
Alopecia Areata 1 |
|
Trachyonychia, Alopecia universalis, Alopecia totalis, Nail pits, Patchy alopecia |
OMIM:104000 |
Graham Little-Piccardi-Lassueur Syndrome |
|
Alopecia, Sparse scalp hair, Sparse axillary hair, Sparse pubic hair, Pruritus, Perifollicular hy... |
ORPHA:505 |
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Alopecia, Alopecia of scalp |
OMIM:260910 |
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome |
|
Alopecia totalis |
ORPHA:1014 |
Ectodermal Dysplasia 6, Hair/Nail Type |
|
Alopecia, Thin toenail, Sparse hair, Dystrophic toenail |
OMIM:614928 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Alopecia, T lymphocytopenia, Nail pits, Decreased helper T cell proportion, Ridged nail, Nail dys... |
OMIM:601705 |
Hypotrichosis 15 |
|
Sparse scalp hair |
OMIM:620177 |
Hypotrichosis 2 |
|
Sparse scalp hair |
OMIM:146520 |
Partial Chromosome Y Deletion |
|
Abnormal spermatogenesis, Decreased testicular size, Oligospermia, Male infertility, Cryptorchidi... |
ORPHA:1646 |
Alopecia, Psychomotor Epilepsy, Pyorrhea, And Mental Subnormality |
|
Congenital alopecia totalis, Alopecia universalis |
OMIM:104130 |
Hypotrichosis 9 |
|
Sparse body hair, Sparse scalp hair |
OMIM:614237 |
Okt4 Epitope Deficiency |
|
Abnormal T cell morphology |
OMIM:613949 |
Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia, Decreased testi... |
OMIM:619528 |
Cardiomyopathy, Dilated, 2G |
|
Myofiber disarray, Right bundle branch block, Cerebral hemorrhage, Myocardial sarcomeric disarray... |
OMIM:619897 |
Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Interstitial cardiac fibrosis, Restrictive cardiomyopathy, Ventricular arrhyth... |
OMIM:613424 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size |
OMIM:619145 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Myofiber disarray, Supraventricular tachycardia, Cardiac arrest, Left ventricular hypertrophy, Di... |
OMIM:612158 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Sparse body hair, Alopecia, Hypoplastic toenails, Sparse eyebrow, Microdontia, Abnormality of den... |
ORPHA:2722 |
Left Ventricular Noncompaction 1 |
|
Sudden cardiac death, Ventricular septal defect, Ventricular arrhythmia, Left ventricular hypertr... |
OMIM:604169 |
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive |
|
Alopecia, Pruritus, Nail dystrophy, Plantar hyperkeratosis |
OMIM:616487 |
Spermatogenic Failure 30 |
|
Spermatogenesis maturation arrest, Azoospermia, Cryptozoospermia, Male infertility, Cryptorchidism |
OMIM:618110 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Sudden cardiac death, Ventricular arrhythmia, Left ventricular hypertrophy, Dilated cardiomyopath... |
OMIM:601493 |
Spermatogenic Failure 25 |
|
Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Male infert... |
OMIM:617960 |
Hypotrichosis 1 |
|
Sparse body hair, Sparse eyebrow, Sparse axillary hair, Sparse pubic hair, Sparse eyelashes, Spar... |
OMIM:605389 |
Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Dilated cardiomyopathy, Left ventricular noncompaction, C... |
OMIM:615373 |
Olmsted Syndrome 1 |
|
Hyperhidrosis, Orthokeratosis, Opacification of the corneal stroma, Alopecia universalis, Paraker... |
OMIM:614594 |
Loeffler Endocarditis |
|
Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Myocardial fibrosis, Pericard... |
ORPHA:75566 |
Hypertrichosis, Anterior Cervical |
|
Anterior cervical hypertrichosis |
OMIM:600457 |
Hypertrichosis Universalis Congenita, Ambras Type |
|
Congenital, generalized hypertrichosis |
OMIM:145701 |
Hypertrichosis Lanuginosa Congenita |
|
Double eyebrow, Congenital, generalized hypertrichosis |
OMIM:145700 |
Testes, Rudimentary |
|
Decreased testicular size, Hypergonadotropic hypogonadism, Hypoplastic male external genitalia |
OMIM:273150 |
Cardiomyopathy, Dilated, 1U |
|
Severely reduced left ventricular ejection fraction, Syncope, Left ventricular hypertrophy, Dilat... |
OMIM:613694 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, Woolly h... |
OMIM:610476 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young |
OMIM:613370 |
Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Alopecia, Generalized ichthyosis, Sensorineural hearing impairment, Orthokeratosis, Palmoplantar ... |
ORPHA:79395 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
T-wave inversion in the right precordial leads, Ventricular arrhythmia, Right ventricular cardiom... |
OMIM:602087 |
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Hypoplastic sweat glands, Hypohidrosis, Trichorrhexis nodosa, Sparse lateral eyebrow, Natal tooth... |
OMIM:617337 |
Cardiomyopathy, Dilated, 1M |
|
Impaired myocardial contractility, Reduced left ventricular ejection fraction, Congestive heart f... |
OMIM:607482 |
Parc Syndrome |
|
Absent eyelashes, Alopecia, Absent eyebrow |
OMIM:600331 |
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Sudden cardiac death, Limb-girdle muscle weakness, Elbow flexion contracture, Decreased cervical ... |
OMIM:181350 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Intrahepatic biliary atresia, Alopecia, Hepatic fibrosis, Hepatic failure, Pruritus, Sparse eyebr... |
OMIM:607626 |
Spermatogenic Failure, X-Linked, 2 |
|
Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia |
OMIM:309120 |
Marie Unna Hereditary Hypotrichosis |
|
Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse scalp hair, Coarse hair, Sparse or absent eye... |
ORPHA:444 |
His Bundle Tachycardia |
|
Neoplasm of the heart, Arrhythmia, Junctional ectopic tachycardia, Cardiomyopathy |
ORPHA:3283 |
Kerion Celsi |
|
Recurrent skin infections, Recurrent cutaneous abscess formation, Alopecia, Inflammatory abnormal... |
ORPHA:499 |
Cardiomyopathy, Dilated, 1Kk |
|
Left ventricular hypertrophy, Dilated cardiomyopathy, Ventricular septal hypertrophy, Congestive ... |
OMIM:615248 |
Uncombable Hair Syndrome |
|
Trichodysplasia, Woolly hair, White hair, Patchy alopecia, Coarse hair, Abnormal hair morphology |
ORPHA:1410 |
Erythrokeratodermia Variabilis Et Progressiva 5 |
|
Palmoplantar hyperkeratosis, Onychogryposis, Abnormal hair morphology, Hyperkeratosis, Abnormalit... |
OMIM:617756 |
Odontoonychodermal Dysplasia |
|
Orthokeratosis, Widely spaced primary teeth, Palmoplantar hyperkeratosis, Thin nail, Nail dysplas... |
OMIM:257980 |
Cardiomyopathy, Dilated, 1L |
|
Sudden cardiac death, Reduced left ventricular ejection fraction, Congestive heart failure, Incre... |
OMIM:606685 |
Hypotrichosis 10 |
|
Sparse body hair, Sparse eyelashes, Sparse eyebrow |
OMIM:614238 |
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Sparse body hair, Alopecia, Dystrophic toenail, Alopecia of scalp, Onychogryposis of toenails |
OMIM:617294 |
Candidiasis, Familial, 1 |
|
Alopecia, Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:114580 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Cardiomyopathy, Dilated, 2A |
|
Myofiber disarray, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Conge... |
OMIM:611880 |
Cardiomyopathy, Familial Restrictive, 1 |
|
Sudden cardiac death, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left atrial enlar... |
OMIM:115210 |
Trichodysplasia-Amelogenesis Imperfecta Syndrome |
|
Alopecia of scalp, Trichodysplasia |
ORPHA:79129 |
Immunodeficiency 15A |
|
Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of memory B... |
OMIM:618204 |
Spermatogenic Failure 59 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619937 |
Spermatogenic Failure 73 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619878 |
Immunodeficiency 18 |
|
Lymphopenia, Decreased proportion of CD3-positive T cells |
OMIM:615615 |
Cardiomyopathy, Dilated, 1I |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Red... |
OMIM:604765 |
Hypotrichosis Simplex Of The Scalp |
|
Abnormal eyebrow morphology, Sparse scalp hair, Abnormality of the pubic hair, Pruritus, Abnormal... |
ORPHA:90368 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Sudden cardiac death, Increased variability in muscle fiber diameter, Centrally nucleated skeleta... |
OMIM:611705 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Impaired myocardial contractility, Left ventricular diastolic dysfunction, Tricuspid regurgitatio... |
OMIM:618052 |
Cardiomyopathy, Dilated, 1V |
|
Reduced left ventricular ejection fraction, Syncope, Left ventricular hypertrophy, Dilated cardio... |
OMIM:613697 |
Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia |
OMIM:240600 |
Trichodysplasia-Xeroderma Syndrome |
|
Sparse body hair, Alopecia, Sparse eyebrow, Sparse scalp hair, Trichorrhexis nodosa, Pili torti, ... |
ORPHA:3361 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Sudden cardiac death, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, T-w... |
OMIM:608751 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Sudden cardiac death, Effort-induced polymorphic ventricular tachycardia, Syncope, Atrial standst... |
OMIM:604772 |
Atrial Standstill 1 |
|
Paroxysmal atrial fibrillation, Atrial standstill, Premature atrial contractions, Atrial cardiomy... |
OMIM:108770 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia |
OMIM:242870 |
Cardiomyopathy, Dilated, 1J |
|
Sudden cardiac death, Abnormal left ventricular function, Congestive heart failure, Dilated cardi... |
OMIM:605362 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Supraventricular tachycardia, Systolic anterior motion of the mitral valve,... |
OMIM:608758 |
Cardiomyopathy, Dilated, 1W |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Reduced left ventricular... |
OMIM:611407 |
Cardiomyopathy, Dilated, 1Cc |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Reduced left ventricular... |
OMIM:613122 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
T-wave inversion in the right precordial leads, Ventricular arrhythmia, Right ventricular cardiom... |
OMIM:602086 |
Naxos Disease |
|
Sudden cardiac death, Ventricular arrhythmia, Palpitations, Subungual hyperkeratosis, Sparse body... |
OMIM:601214 |
Cardiomyopathy, Dilated, 1Ff |
|
Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop... |
OMIM:613286 |
Cardiomyopathy, Dilated, 1Dd |
|
Sudden cardiac death, Left ventricular systolic dysfunction, Congestive heart failure, Dilated ca... |
OMIM:613172 |
Heart-Hand Syndrome, Slovenian Type |
|
Supraventricular arrhythmia, Dilated cardiomyopathy, Abnormal electrophysiology of sinoatrial nod... |
ORPHA:168796 |
Sick Sinus Syndrome 2 |
|
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Mitral valve prolapse, Syncope, Left ve... |
OMIM:163800 |
Idiopathic Trachyonychia |
|
Toenail dysplasia, Atopic dermatitis, Ichthyosis, Fingernail dysplasia, Amyloidosis, Thin nail, N... |
ORPHA:79153 |
Cardiomyopathy, Dilated, 1P |
|
Ventricular arrhythmia, Reduced systolic function, Congestive heart failure, Dilated cardiomyopathy |
OMIM:609909 |
Spermatogenic Failure 32 |
|
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia |
OMIM:619831 |
Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Oligospermia, Male infertility, Azoospermia |
OMIM:619108 |
Carvajal Syndrome |
|
Woolly hair, Congestive heart failure, Dilated cardiomyopathy, Patchy palmoplantar hyperkeratosis |
ORPHA:65282 |
Cardiomyopathy, Familial Hypertrophic, 25 |
|
Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome, Left ventricular hypertrophy |
OMIM:607487 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Nail dystrophy, T lymphocytopenia, Abnormally low T cell receptor excision circle level |
OMIM:618806 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Left ventricular outflow tract obstruction, Right bundle branch block, Severely reduced left vent... |
OMIM:613251 |
Atrial Standstill |
|
Flexion contracture, Ischemic stroke, Left ventricular noncompaction, Palpitations, Abnormal P wa... |
ORPHA:1344 |
Ectodermal Dysplasia 4, Hair/Nail Type |
|
Sparse body hair, Alopecia, Pili torti, Brittle hair, Absent eyelashes, Temporal hypotrichosis, O... |
OMIM:602032 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Abnormal spermatogenesis, Obstructive azoospermia, Decreased testicular size, Azoospermia, Increa... |
ORPHA:399805 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, T-wave inversion, Ventricular arrhythmia, Syncope, Woolly hair,... |
OMIM:611528 |
Muscular Dystrophy, Becker Type |
|
Abnormal EKG, Muscular dystrophy, Calf muscle pseudohypertrophy, Arrhythmia, Cardiomyopathy |
OMIM:300376 |
Glycogen Storage Disease 0, Muscle |
|
Left atrial enlargement, Left ventricular hypertrophy, Decreased muscle glycogen content, Cardiom... |
OMIM:611556 |
Congenital Heart Defects, Multiple Types, 3 |
|
Right bundle branch block, Atrial septal defect, Atrioventricular block, Abnormal heart morpholog... |
OMIM:614954 |
Spermatogenic Failure 62 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Atrichia With Papular Lesions |
|
Sparse hair |
OMIM:209500 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Erythroderma, Hypergranulosis, Orthokeratosis, Palmoplantar keratoderma, Growth delay, Recurrent ... |
OMIM:615508 |
Cardiomyopathy, Dilated, 1E |
|
Supraventricular tachycardia, Right bundle branch block, Reduced left ventricular ejection fracti... |
OMIM:601154 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Sudden cardiac death, Reduced left ventricular ejection fraction, Syncope, Left ventricular hyper... |
OMIM:613838 |
Cardiomyopathy, Dilated, 1Ee |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:613252 |
Autoimmune Disease |
|
Autoimmunity, Autoimmune antibody positivity |
OMIM:109100 |
Atrial Fibrillation, Familial, 6 |
|
Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Elevated left ventricul... |
OMIM:612201 |
Classic Mycosis Fungoides |
|
Alopecia, Splenomegaly, Skin rash, Skin ulcer, Eczema, Abnormality of the nail, Lymphadenopathy, ... |
ORPHA:2584 |
Diabetes Mellitus, Ketosis-Prone |
|
Diabetes mellitus, Beta-cell dysfunction, Autoimmunity, Insulin resistance |
OMIM:612227 |
Anonychia With Flexural Pigmentation |
|
Alopecia of scalp, Follicular hyperkeratosis, Carious teeth, Abnormal hair morphology, Hyperkerat... |
ORPHA:69125 |
Insulin-Resistance Syndrome Type A |
|
Delayed puberty, Type II diabetes mellitus, Hyperkeratosis, Generalized hirsutism |
ORPHA:2297 |
Myopathy, Myofibrillar, 1 |
|
Third degree atrioventricular block, Restrictive cardiomyopathy, Dilated cardiomyopathy, EMG: myo... |
OMIM:601419 |
Cardiomyopathy, Dilated, 1Gg |
|
Reduced left ventricular ejection fraction, Cardiogenic shock, Congestive heart failure, Dilated ... |
OMIM:613642 |
Moynahan Syndrome |
|
Alopecia, Short stature, Cachexia, Hyperkeratosis, Sparse hair |
ORPHA:2574 |
L-Ferritin Deficiency |
|
Alopecia |
OMIM:615604 |
Cardiomyopathy, Dilated, 1B |
|
Impaired myocardial contractility, Ventricular arrhythmia, Congestive heart failure, Dilated card... |
OMIM:600884 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Abnormal spermatogenesis, Polycystic ovaries, Oocyte arrest at metaphase I, Female infertility, A... |
ORPHA:488191 |
Cryptorchidism, Unilateral Or Bilateral |
|
Unilateral cryptorchidism, Cryptorchidism |
OMIM:219050 |
Bathing Suit Ichthyosis |
|
Alopecia, Hypohidrosis, Thickened skin, Ichthyosis, Palmoplantar hyperkeratosis, Congenital nonbu... |
ORPHA:100976 |
Monilethrix |
|
Alopecia, Brittle hair, Nail dysplasia, Abnormality of hair texture, Sparse hair, Nail dystrophy |
OMIM:158000 |
Cardiomyopathy, Dilated, 1Jj |
|
Dilated cardiomyopathy, Reduced left ventricular ejection fraction |
OMIM:615235 |
Dissecting Cellulitis Of The Scalp |
|
Abnormal hair morphology, Pruritus, Recurrent skin infections |
ORPHA:345 |
Familial Dilated Cardiomyopathy |
|
Elevated pulmonary artery pressure, Reduced left ventricular ejection fraction, Ventricular arrhy... |
ORPHA:217607 |
Cardiomyopathy, Dilated, 1G |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Pre... |
OMIM:604145 |
Witkop Syndrome |
|
Small nail, Fine hair, Nail pits, Agenesis of permanent teeth, Ridged nail, Concave nail, Microdo... |
OMIM:189500 |
Incessant Infant Ventricular Tachycardia |
|
Supraventricular tachycardia, Histiocytoid cardiomyopathy, Cardiac rhabdomyoma, Cardiac arrest, W... |
ORPHA:45453 |
Cardiomyopathy, Dilated, 1Bb |
|
Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop... |
OMIM:612877 |
Danon Disease |
|
Second degree atrioventricular block, Increased QRS voltage, Generalized amyotrophy, Severely red... |
OMIM:300257 |
Hypertrichosis, Congenital Generalized |
|
Hirsutism, Congenital, generalized hypertrichosis |
OMIM:307150 |
Fixed Subaortic Stenosis |
|
Atrioventricular canal defect, Systolic heart murmur, Bacterial endocarditis, Left ventricular ou... |
ORPHA:3092 |
Centrifugal Lipodystrophy |
|
Lymphadenitis, Alopecia, Inflammatory abnormality of the skin, Scaling skin, Erythema |
ORPHA:90156 |
Ringed Hair Disease |
|
Abnormal hair pattern, Fine hair |
ORPHA:169 |
Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Sudden cardiac death, Knee flexion contracture, Elbow flexion contracture, Achilles tendon contra... |
OMIM:310300 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Myofiber disarray, Wolff-Parkinson-White syndrome, Syncope, Asymmetric septal hypertrophy, Conges... |
OMIM:600858 |
Sensorineural Deafness With Dilated Cardiomyopathy |
|
Abnormal cardiac ventricular function, Dilated cardiomyopathy, Congestive heart failure |
ORPHA:217622 |
Cardiomyopathy, Dilated, 1Ii |
|
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Ventricular tachycardia,... |
OMIM:615184 |
Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells |
OMIM:312863 |
Neonatal Lupus Erythematosus |
|
Malar rash, Anemia, Neutropenia, Hemolytic anemia, Skin rash, Dilated cardiomyopathy, Abnormal el... |
ORPHA:398124 |
Pseudopili Annulati |
|
Abnormality of hair texture, Abnormality of the scalp hair |
OMIM:613241 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Sudden cardiac death, Ventricular arrhythmia, Right ventricular cardiomyopathy |
OMIM:107970 |
Cardiomyopathy, Dilated, 1Hh |
|
Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume |
OMIM:613881 |
Cardiomyopathy, Dilated, 1Z |
|
Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy |
OMIM:611879 |
Hypogonadism, Male |
|
Male hypogonadism, Testicular atrophy, Hypospadias, Micropenis |
OMIM:241100 |
Ichthyosis, Hystrix-Like, With Deafness |
|
Sparse eyebrow, Sparse scalp hair, Sensorineural hearing impairment, Ichthyosis, Absent eyelashes... |
OMIM:602540 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Flexion contracture,... |
OMIM:608099 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Bicuspid aortic valve, Pulmonic stenosis, Ventricular escape rhythm, Left atrial enlargement, Mit... |
OMIM:616201 |
Left Ventricular Noncompaction 10 |
|
Pulmonary arterial hypertension, Syncope, Congestive heart failure, Dilated cardiomyopathy, Left ... |
OMIM:615396 |
Cardiomyopathy, Familial Hypertrophic, 20 |
|
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Atrial fibrillation, Reduced left vent... |
OMIM:613876 |
Long Qt Syndrome 13 |
|
Torsade de pointes, Pulmonary embolism, Permanent atrial fibrillation, Reduced left ventricular e... |
OMIM:613485 |
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Sparse eyebrow, Generalized ichthyosis, Cutis laxa, Hypogonadism, Scaling skin, Alopecia of scalp... |
ORPHA:2269 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Dilated cardiomyopathy, Congestive heart failure, Woolly hair, Ventricular tachycardia, Cardiomyo... |
OMIM:605676 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Calf muscle hypertrophy, Absent muscle dystrophin expression, Elbow flexion contracture, Left ven... |
ORPHA:206546 |
Attrv30M Amyloidosis |
|
Cardiomegaly, Arrhythmia, Atrioventricular block, Cardiomyopathy |
ORPHA:85447 |
Hidrotic Ectodermal Dysplasia |
|
Brittle scalp hair, Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Generaliz... |
ORPHA:189 |
Pili Bifurcati |
|
Abnormal hair morphology, Abnormality of hair texture |
ORPHA:720 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Right bundle branch block, Cardiac arrest, Syncope, Left ventricular hypertrophy, Angina pectoris... |
OMIM:612098 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
Ichthyosis-Hypotrichosis Syndrome |
|
Sparse hair |
ORPHA:91132 |
Tn Polyagglutination Syndrome |
|
Abnormal erythrocyte morphology, Autoimmunity |
OMIM:300622 |
Attrv122I Amyloidosis |
|
Anemia, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Abnormal EKG, Lef... |
ORPHA:85451 |
Erythrokeratodermia Variabilis |
|
Alopecia, Abnormal testis morphology, Skin rash, Abnormality of the nail, Patchy palmoplantar hyp... |
ORPHA:317 |
Cardiomyopathy, Dilated, 1Nn |
|
Reduced left ventricular ejection fraction, Ventricular arrhythmia, Congestive heart failure, Inc... |
OMIM:615916 |
Congenital Heart Defects, Multiple Types, 2 |
|
Subvalvular aortic stenosis, Left ventricular outflow tract obstruction, Ventricular septal defec... |
OMIM:614980 |
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis |
|
Hypodontia, Sparse hair |
OMIM:246500 |
Cardiomyopathy, Dilated, 1X |
|
Increased variability in muscle fiber diameter, Reduced left ventricular ejection fraction, Calf ... |
OMIM:611615 |
Cardiomyopathy, Familial Hypertrophic, 21 |
|
Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hypertrophic cardiomyopat... |
OMIM:614676 |
Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Insulin resistance, Autoimmunity, Hyperinsulinemic hypoglycemia, Autoimm... |
ORPHA:411593 |
Deafness-Infertility Syndrome |
|
Abnormal sperm tail morphology, Abnormal spermatogenesis, Reduced sperm motility, Male infertilit... |
OMIM:611102 |
Pemphigus Vulgaris, Familial |
|
Autoimmunity, Autoimmune antibody positivity |
OMIM:169610 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Globozoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular s... |
ORPHA:399808 |
Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Increased left ventricula... |
OMIM:302045 |
Cardiomyopathy, Familial Hypertrophic, 26 |
|
Sudden cardiac death, Permanent atrial fibrillation, Congestive heart failure, Hypertrophic cardi... |
OMIM:617047 |
Cardiomyopathy, Familial Hypertrophic, 18 |
|
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Atrial fibrillation, Paroxysmal atrial... |
OMIM:613874 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Hyperglycemia, Transient neonatal diabetes mellitus, Maternal diabetes, Anti-glutamic acid decarb... |
OMIM:610582 |
Cardiomyopathy, Dilated, 1D |
|
Sudden cardiac death, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, D... |
OMIM:601494 |
Quinquaud Folliculitis Decalvans |
|
Scarring alopecia of scalp, Pustule, Patchy alopecia, Recurrent skin infections, Abnormal hair mo... |
ORPHA:346 |
Peripartum Cardiomyopathy |
|
Sinus tachycardia, Cardiogenic shock, Palpitations, Elevated jugular venous pressure, Abnormal at... |
ORPHA:563 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Sudden cardiac death, Ventricular hypertrophy, Myofiber disarray, Pericardial effusion, Cardiac a... |
OMIM:115197 |
Desminopathy |
|
Sudden cardiac death, Concentric hypertrophic cardiomyopathy, Supraventricular arrhythmia, Conges... |
ORPHA:98909 |
Immunodeficiency 19 |
|
Abnormal natural killer cell morphology, T lymphocytopenia, Abnormal B cell morphology |
OMIM:615617 |
Pili Torti-Onychodysplasia Syndrome |
|
Sparse body hair, Alopecia, Conjunctival hyperemia, Brittle hair, Absent eyelashes, Alopecia univ... |
ORPHA:2890 |
Atrial Septal Defect 2 |
|
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Aortic regurgitat... |
OMIM:607941 |
Ichthyosis With Confetti |
|
Decreased body weight, Ichthyosis, Short stature, Palmoplantar hyperkeratosis, Congenital nonbull... |
OMIM:609165 |
Cardiomyopathy, Familial Hypertrophic, 3 |
|
Sudden cardiac death, Hypertrophic cardiomyopathy |
OMIM:115196 |
Nemaline Myopathy 11, Autosomal Recessive |
|
Cardiomyopathy, Type 1 muscle fiber predominance, Nemaline bodies, Scapular winging, First degree... |
OMIM:617336 |
Congenital Non-Bullous Ichthyosiform Erythroderma |
|
Alopecia, Hypohidrosis, Ichthyosis, Corneal erosion, Abnormality of the nail, Palmoplantar kerato... |
ORPHA:79394 |
Spermatogenic Failure 63 |
|
Decreased testicular size, Oligospermia, Male infertility, Reduced progressive sperm motility |
OMIM:619689 |
Lamellar Ichthyosis |
|
Lack of skin elasticity, Aplasia/Hypoplasia of the eyebrow, Ichthyosis, Abnormality of the nail, ... |
ORPHA:313 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Right axis deviation, Right bundle branch block, Limb-girdle muscle weakness, Centrally nucleated... |
OMIM:255160 |
Wiskott-Aldrich Syndrome 2 |
|
Thrombocytopenia, Decreased proportion of CD8-positive T cells |
OMIM:614493 |
Acrokeratosis Verruciformis |
|
Acrokeratosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Epidermal acanthosis, Ridged... |
OMIM:101900 |
Atrial Septal Defect, Sinus Venosus Type |
|
Pulmonary arterial hypertension, Systolic heart murmur, Supraventricular tachycardia, Right bundl... |
ORPHA:99105 |
Cd8 Deficiency, Familial |
|
Absence of CD8-positive T cells |
OMIM:608957 |
Peeling Skin Syndrome 4 |
|
Ichthyosis, Orthokeratosis, Scaling skin, Palmoplantar keratoderma, Hyperkeratosis, Nail dystrophy |
OMIM:607936 |
Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Right bundle branch block, Limb-girdle muscular dystrophy, Calf muscle hypertrophy, Reduced muscl... |
ORPHA:206559 |
Woolly Hair, Autosomal Recessive 3 |
|
Sparse scalp hair, Trichorrhexis nodosa, Curly hair, Fine hair, Sparse eyelashes, Sparse hair |
OMIM:616760 |
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Microphallus, Decreased testicular size, Absence of pubertal development, Cryptorchidism, Primary... |
OMIM:614840 |
Krt1-Related Diffuse Nonepidermolytic Keratoderma |
|
Nonepidermolytic palmoplantar hyperkeratosis, Palmoplantar scaling skin, Diffuse palmoplantar hyp... |
ORPHA:530838 |
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
|
Interosseus muscle atrophy, Premature graying of hair, Dilated cardiomyopathy, Thenar muscle atro... |
OMIM:619903 |
Thumb Deformity And Alopecia |
|
Alopecia |
OMIM:188150 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Alopecia, Ichthyosis, Palmoplantar hyperkeratosis, Congenital nonbullous ichthyosiform erythroder... |
OMIM:242300 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Reduced left ventricular ejection fraction, Left ventricular noncompaction, Aortic regurgitation,... |
OMIM:616501 |
Hypotrichosis 5 |
|
Alopecia, Thin eyebrow, Abnormality of the nail, Abnormal sweat gland morphology, Absent pubic ha... |
OMIM:612841 |
Complement Component 4, Partial Deficiency Of |
|
Systemic lupus erythematosus |
OMIM:120790 |
Barth Syndrome |
|
Abnormal mitochondrial morphology, Dilated cardiomyopathy, Abnormality of neutrophils, Endocardia... |
ORPHA:111 |
Late-Onset Distal Myopathy, Markesbery-Griggs Type |
|
Limb-girdle muscle weakness, Weakness of long finger extensor muscles, Wrist drop, Weakness of th... |
ORPHA:98912 |
Pili Torti |
|
Alopecia, Abnormal eyebrow morphology, Pili torti, Brittle hair, Abnormality of the nail, Abnorma... |
ORPHA:2889 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Pancreatic ... |
OMIM:610021 |
Ectodermal Dysplasia/Skin Fragility Syndrome |
|
Absent eyelashes, Anhidrosis, Palmoplantar hyperkeratosis, Scaling skin, Alopecia of scalp, Absen... |
OMIM:604536 |
Sézary Syndrome |
|
Alopecia, Palmoplantar keratoderma, Nail dystrophy, Dry skin, Lymphadenopathy, Hepatomegaly, Eryt... |
ORPHA:3162 |
Muscular Dystrophy, Cardiac Type |
|
Muscular dystrophy, Abnormal EKG, Cardiomyopathy |
OMIM:309930 |
Atrial Fibrillation, Familial, 10 |
|
Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Left ventricular hypertrophy, Brad... |
OMIM:614022 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Sparse body hair, Gingivitis, Sparse scalp hair, Periodontitis, Alopecia universalis, Abnormal ey... |
ORPHA:1008 |
Myofibrillar Myopathy 10 |
|
Knee flexion contracture, Increased QRS voltage, Elbow flexion contracture, Left ventricular hype... |
OMIM:619040 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Left ventricular hypertrophy, Congestive heart failure, Hypertens... |
OMIM:540000 |
Nathalie Syndrome |
|
Skeletal muscle atrophy, Abnormal EKG |
OMIM:255990 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Sparse body hair, Sparse eyebrow, Hypohidrosis, Curly hair, Pili torti, Brittle hair, Conical pri... |
OMIM:602400 |
Cardiac Valvular Dysplasia, X-Linked |
|
Bicuspid aortic valve, Short chordae tendineae of the mitral valve, Mitral valve prolapse, Short ... |
OMIM:314400 |
Myopathy, Distal, 1 |
|
Toe extensor amyotrophy, Weakness of long finger extensor muscles, Amyotrophy of ankle musculatur... |
OMIM:160500 |
Bazex Syndrome |
|
Anemia, Pruritus, Yellow nails, Parakeratosis, Palmoplantar keratoderma, Scaling skin, Acanthosis... |
ORPHA:166113 |
Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Facial erythema, Sclerodactyly, Palmoplantar hyperkeratosis, Alopecia totalis, Developmental cata... |
OMIM:212360 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Lymphadenitis, Recurrent bacterial skin infections, Abnormal lymph node morphology, Chronic oral ... |
ORPHA:911 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Anemia, Dilated cardiomyopathy |
OMIM:611283 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Presyncope, Congestive heart failure, Pre... |
OMIM:604400 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Leukonychia, Syncope, Dilated cardiomyopathy, Woolly hair, Parakeratosis, Palmoplantar keratoderm... |
OMIM:615821 |
Cardiomyopathy, Dilated, 1K |
|
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm |
OMIM:605582 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 9 |
|
Hypertrophic cardiomyopathy, Cardiomyocyte mitochondrial proliferation |
OMIM:616500 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
|
Limb-girdle muscle weakness, Muscular dystrophy, Dilated cardiomyopathy, Calf muscle pseudohypert... |
OMIM:604286 |
Glycogen Storage Disease Due To Lamp-2 Deficiency |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy |
ORPHA:34587 |
Mahvash Disease |
|
Recurrent pancreatitis, Type II diabetes mellitus, Pancreatic alpha-cell hyperplasia, Increased g... |
OMIM:619290 |
Complete Atrioventricular Septal Defect |
|
Systolic heart murmur, Displacement of the papillary muscles, Hepatomegaly, Abnormal P wave, Thir... |
ORPHA:1329 |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Myopathy, Supraventricular tachycardia, Fatty replacement of skeletal muscle, Cardiomyopathy |
OMIM:255100 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Hyperglycemia, Transient neonatal diabetes mellitus |
OMIM:601410 |
Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Orthokeratosis, Congenital nonbullous ichthyosiform erythroderma, Parakeratosis, Erythroderma, Wh... |
OMIM:604777 |
Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Pruritus, Congenital nonbullous ichthyosiform erythroderma, Orthokeratotic hyperkeratosis, Scalin... |
OMIM:617571 |
Transient Neonatal Diabetes Mellitus |
|
Hypothyroidism, Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Maternal diabetes, A... |
ORPHA:99886 |
Long Qt Syndrome 16 |
|
Perimembranous ventricular septal defect, T-wave alternans, Second degree atrioventricular block,... |
OMIM:618782 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Ventricular hypertrophy, Right bundle branch block, Decreased muscle mass, T-wave inversion, Vent... |
ORPHA:263297 |
Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Generalized ichthyosis, Orthokeratosis, Congenital nonbullous ichthyosiform erythroderma, Paraker... |
OMIM:612281 |
Long Qt Syndrome 15 |
|
Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Left ventricula... |
OMIM:616249 |
Familial Isolated Dilated Cardiomyopathy |
|
Palmoplantar keratoderma, Myopathy, Dilated cardiomyopathy, Abnormality of neutrophils |
ORPHA:154 |
Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus, Autoimmunity |
OMIM:222100 |
Spermatogenic Failure 35 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Male infe... |
OMIM:618341 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Cardiomyopathy, Dilated, 1A |
|
Sudden cardiac death, Third degree atrioventricular block, Pericardial effusion, Ventricular arrh... |
OMIM:115200 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Left ventricular hypertrophy, Congestive heart failure, Hepatomegaly, Br... |
OMIM:619048 |
Cardiomyopathy, Familial Hypertrophic, 12 |
|
Sudden cardiac death, Reduced left ventricular endsystolic diameter, Ventricular septal hypertrop... |
OMIM:612124 |
Parana Hard Skin Syndrome |
|
Hyperkeratosis, Thickened skin, Generalized hirsutism |
ORPHA:2812 |
Pseudopelade Of Brocq |
|
Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse scalp hair, Abnormality of the nail, Recurren... |
ORPHA:129 |
Cardiomyopathy, Dilated, 2C |
|
Pulmonary arterial hypertension, Dilated cardiomyopathy, Reduced left ventricular ejection fraction |
OMIM:618189 |
Cardiomyopathy, Dilated, 2D |
|
Pulmonary arterial hypertension, Patent foramen ovale, Interstitial cardiac fibrosis, Reduced lef... |
OMIM:619371 |
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Alopecia, Hypohidrosis, Premature loss of primary teeth, Abnormality of dental morphology, Fine h... |
ORPHA:248 |
Cervical Hypertrichosis With Underlying Kyphoscoliosis |
|
Sacral hypertrichosis, Lumbar hypertrichosis, Anterior cervical hypertrichosis, Thoracic hypertri... |
OMIM:117850 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Toenail dysplasia, Alopecia, Hypoplastic toenails, Sparse scalp hair, Mandibular prognathia, Dela... |
ORPHA:2325 |
Systemic Lupus Erythematosus 16 |
|
Perinuclear antineutrophil antibody positivity, Systemic lupus erythematosus, Anti-dsDNA antibody... |
OMIM:614420 |
Björnstad Syndrome |
|
Alopecia, Brittle hair |
ORPHA:123 |
Naxos Disease |
|
Sudden cardiac death, Sparse scalp hair, Curly hair, Abnormality of hair texture, Paroxysmal vent... |
ORPHA:34217 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Joint contracture of the hand, Synophrys, Camptodactyly of toe, Broad na... |
OMIM:300280 |
Microcephaly-Cardiomyopathy |
|
Dilated cardiomyopathy |
OMIM:251220 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Amyloidosis, Parakeratosis, Cutaneous macular amyloidosis, Palmoplantar keratoderma, Epidermal ac... |
OMIM:615225 |
Cardiomyopathy, Dilated, 2B |
|
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular e... |
OMIM:614672 |
Hashimoto Thyroiditis |
|
Hashimoto thyroiditis, Autoimmune antibody positivity |
OMIM:140300 |
Monilethrix |
|
Abnormal eyebrow morphology, Brittle hair, Fine hair, Abnormality of the nail, Cataract, Abnormal... |
ORPHA:573 |
Olmsted Syndrome 2 |
|
Alopecia universalis, Palmoplantar hyperkeratosis, Woolly hair, Parakeratosis, Palmoplantar kerat... |
OMIM:619208 |
Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Splenomegaly |
OMIM:269840 |
Atrial Septal Defect, Ostium Primum Type |
|
Systolic heart murmur, Palpitations, Abnormal P wave, Tricuspid regurgitation, Third heart sound,... |
ORPHA:99106 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Myofiber disarray, Restrictive cardiomyopathy, Type 1 fibers relatively smaller than type 2 fiber... |
OMIM:619424 |
Lipase Deficiency, Combined |
|
Type II diabetes mellitus, Pancreatitis |
OMIM:246650 |
Omenn Syndrome |
|
Alopecia, Anemia, Aplasia/Hypoplasia of the eyebrow, Thickened skin, Thyroiditis, Failure to thri... |
ORPHA:39041 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Enamel hypoplasia, Hyperhidrosis, Macrotia, Congenital bullous ichthyosiform erythroderma, Thin u... |
OMIM:613576 |
Noonan Syndrome 8 |
|
Curly hair, Ventricular septal defect, Left ventricular hypertrophy, Eczema, Atrial septal defect... |
OMIM:615355 |
Brugada Syndrome |
|
Supraventricular tachycardia, Right bundle branch block, Trifascicular block, Cardiac arrest, Ven... |
ORPHA:130 |
Ectodermal Dysplasia 9, Hair/Nail Type |
|
Absent hair, Absent eyelashes, Nail dysplasia, Concave nail, Sparse hair, Nail dystrophy, Atrichia |
OMIM:614931 |
Myopathy, Myofibrillar, 6 |
|
Knee flexion contracture, Myofibrillar myopathy, Restrictive cardiomyopathy, Generalized amyotrop... |
OMIM:612954 |
Familial Reactive Perforating Collagenosis |
|
Hyperkeratotic papule, Perifolliculitis, Inflammatory abnormality of the skin, Crusting erythemat... |
ORPHA:79147 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Ventricular ar... |
OMIM:610193 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Facial erythema, Sparse eyebrow, Alopecia, Enamel hypoplasia, Conjunctivitis, Folliculitis, Scarr... |
OMIM:612843 |
Rothmund-Thomson Syndrome, Type 1 |
|
Conical tooth, Absent eyelashes, Recurrent otitis media, Thin nail, Juvenile cataract, Absent eye... |
OMIM:618625 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Left ventricular hypertrophy, Angina pectoris, Myocardial fibrosis, Hypertrophic cardiomyopathy, ... |
OMIM:613873 |
Flynn-Aird Syndrome |
|
Alopecia, Progressive sensorineural hearing impairment, Alopecia of scalp, Cataract, Carious teet... |
OMIM:136300 |
Tropical Endomyocardial Fibrosis |
|
Systolic heart murmur, Restrictive cardiomyopathy, Coronary artery stenosis, Left ventricular dia... |
ORPHA:75565 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Exocrine pancreatic insufficiency, Hyperglycemia, Maturity-onset diabetes of the young |
OMIM:609812 |
Cardiomyopathy, Dilated, 1O |
|
Impaired myocardial contractility, Ventricular tachycardia, Congestive heart failure, Dilated car... |
OMIM:608569 |
Hemochromatosis, Type 2A |
|
Azoospermia, Congestive heart failure, Dilated cardiomyopathy, Hepatomegaly, Arrhythmia, Splenome... |
OMIM:602390 |
Peeling Skin Syndrome 6 |
|
Orthokeratosis, Parakeratosis, Scaling skin, Dry skin, Pruritus, Atopic dermatitis |
OMIM:618084 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Lymphadenitis, Hepatic fibrosis, Anemia, Elevated hepatic transaminase, Eczema, Inflammation of t... |
OMIM:615895 |
Bullous Dystrophy, Hereditary Macular Type |
|
Alopecia totalis, Tapered finger, Abnormality of the nail, Short finger |
OMIM:302000 |
Trimethylaminuria |
|
Anemia, Hypertension, Tachycardia, Neutropenia, Splenomegaly |
OMIM:602079 |
Crandall Syndrome |
|
Sparse body hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Pili torti, Brittle hair, Fine hair |
ORPHA:202 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Alopecia, Fingernail dysplasia, Abnormality of dental morphology, Ridged fingernail, Everted lowe... |
ORPHA:2251 |
Spermatogenic Failure 72 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Irregular... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... |
OMIM:618153 |
Ichthyosis Hystrix Of Curth-Macklin |
|
Ichthyosis, Diffuse palmoplantar hyperkeratosis, Recurrent skin infections, Hyperkeratosis, Nail ... |
ORPHA:79503 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Right bundle branch block, Cardiac arrest, Paroxysmal supraventricular tachycardia, Congestive he... |
OMIM:616117 |
Systemic Lupus Erythematosus 17 |
|
Malar rash, Alopecia, Leukopenia, Raynaud phenomenon, Lymphopenia, Autoimmune thrombocytopenia, H... |
OMIM:301080 |
Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Abnormality of the Achilles tendon, Calf muscle hypertrophy, Muscular dystrophy, Reduced muscle f... |
ORPHA:34515 |
Coronary Arterial Fistula |
|
Pulmonary arterial hypertension, Patent foramen ovale, Systolic heart murmur, Cardiomegaly, Bacte... |
ORPHA:2041 |
Lichen Planopilaris |
|
Alopecia, Hepatitis, Skin ulcer, Abnormal fingernail morphology, Onycholysis, Hyperkeratosis, Pru... |
ORPHA:525 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hyperglycemia, Glucose intolerance |
OMIM:307500 |
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue |
|
Triangular tongue, Calf muscle hypertrophy, Muscular dystrophy, Dilated cardiomyopathy, Macroglos... |
OMIM:616827 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Alopecia, Oral ulcer, Erythroderma, T lymphocytopenia, Lymphocytosis, Decreased proportion of CD3... |
ORPHA:169154 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Abnormal left ventricular outflow tract morphology, Ambiguous atr... |
ORPHA:216694 |
Ichthyosis Hystrix, Curth-Macklin Type |
|
Scaling skin, Palmoplantar keratoderma, Hyperkeratotic papule |
OMIM:146590 |
Spermatogenic Failure 65 |
|
Absent sperm flagella, Abnormal sperm mid-piece morphology, Short sperm flagella, Reduced sperm m... |
OMIM:619712 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Increased variability in muscle fiber diameter, Flexion contracture, Dilated cardiomyopathy, Musc... |
OMIM:300718 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Sudden cardiac death, Absent muscle fiber emerin, Supraventricular arrhythmia, Elbow flexion cont... |
ORPHA:98855 |
X-Linked Agammaglobulinemia |
|
Conjunctivitis, Alopecia, Anemia, Osteomyelitis, Weight loss, Short stature, Hepatitis, Skin rash... |
ORPHA:47 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Lymphadenitis, Crohn's disease, Perianal abscess, Hemolytic anemia, Short stature, Granuloma, Ecz... |
OMIM:618935 |
Cardiomyopathy, Familial Hypertrophic, 28 |
|
Sudden cardiac death, Apical hypertrophic cardiomyopathy, Left ventricular outflow tract obstruct... |
OMIM:619402 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sudden cardiac death, Supraventricular tachycardia, Sinoatrial block, Pericardial effusion, Ventr... |
ORPHA:300751 |
Palmoplantar Keratoderma, Nagashima Type |
|
Palmoplantar hyperhidrosis, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, Epidermal... |
OMIM:615598 |
Long Qt Syndrome 10 |
|
Sudden cardiac death, T-wave alternans, Prolonged QT interval, Atrioventricular block, Atrial fib... |
OMIM:611819 |
Sinoatrial Node Dysfunction And Deafness |
|
Abnormal QRS complex, Increased heart rate variability, Syncope, Bradycardia |
OMIM:614896 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia |
OMIM:601820 |
Familial Isolated Restrictive Cardiomyopathy |
|
Interstitial cardiac fibrosis, Supraventricular arrhythmia, Syncope, Hypertrophic cardiomyopathy,... |
ORPHA:75249 |
Congenital Heart Defects, Multiple Types, 5 |
|
Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomy... |
OMIM:617912 |
Spermatogenic Failure 46 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:619095 |
Spermatogenic Failure 33 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:618152 |
Spermatogenic Failure 37 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:617576 |
Spermatogenic Failure 27 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... |
OMIM:617965 |
Atrial Fibrillation, Familial, 18 |
|
Third degree atrioventricular block, Permanent atrial fibrillation, Palpitations, Bradycardia, Fi... |
OMIM:617280 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Reduced left ventricular ejection fraction, Sinus tachycardia, Cardiogenic shock, Congestive hear... |
OMIM:614473 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Lymphadenitis, Abnormal natural killer cell count, Skin rash, Decreased proportion of CD3-positiv... |
ORPHA:331206 |
Cardiomyopathy, Dilated, 2F |
|
Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop... |
OMIM:619747 |
Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Alopecia, Sparse eyebrow, Leukonychia, Brittle hair, Epidermal hyperkeratosis, Plantar hyperkerat... |
OMIM:104100 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Patent foramen ovale, Alopecia, Flexion contracture, Restrictive cardiomyopathy, Camptodactyly, M... |
ORPHA:88630 |
Emery-Dreifuss Muscular Dystrophy |
|
Sudden cardiac death, Absent muscle fiber emerin, Supraventricular arrhythmia, Elbow flexion cont... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Sudden cardiac death, Absent muscle fiber emerin, Supraventricular arrhythmia, Elbow flexion cont... |
ORPHA:98853 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Mitral regurgitation, Ventricular septal defect, Abnormal cardiac septum morphology |
ORPHA:83473 |
Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Alopecia, Hyperkeratotic papule, Plantar hyperkeratosis, Nail dysplasia, Palmar hyperkeratosis, O... |
ORPHA:79397 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Myopathy, Limb-girdle mus... |
OMIM:612937 |
Pityriasis Rubra Pilaris |
|
Abnormal oral cavity morphology, Thickened skin, Ichthyosis, Eczema, Abnormality of the nail, Pus... |
ORPHA:2897 |
Peeling Skin Syndrome 1 |
|
Brittle hair, Palmoplantar hyperhidrosis, Onycholysis, Eosinophilia, Erythroderma, Pruritus, Incr... |
OMIM:270300 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Type 1 fibers relatively smaller than type 2 fibers, Dilated cardiomyopathy, Myopathy, Frontalis ... |
OMIM:300580 |
Skin Fragility-Woolly Hair Syndrome |
|
Alopecia, Sparse eyebrow, Palmoplantar erythema, Palmoplantar hyperkeratosis, Woolly hair, Palmop... |
OMIM:607655 |
Cardiac Valvular Dysplasia 2 |
|
Subvalvular aortic stenosis, Systolic heart murmur, Pulmonary insufficiency, Left ventricular dia... |
OMIM:620067 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Ichthyosis, Weight loss, Congenital bullous ichthyosiform erythroderma, Skin ulcer, Hyperkeratosi... |
ORPHA:312 |
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Cardiomyopathy, Lower limb muscle weakness, Abnormal EKG, Generalized amyotrophy, Lower limb hype... |
ORPHA:1177 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypotension, Ventricular hypertrophy, Rhabdomyolysis, Cardiac arrest, Premature ventricular contr... |
OMIM:212138 |
Grange Syndrome |
|
Aortic regurgitation, Hypertension, Ventricular septal defect |
ORPHA:79094 |
Acute Peripheral Arterial Occlusion |
|
Supraventricular tachycardia, Myocardial infarction, Abnormality of venous physiology, Leukocytos... |
ORPHA:90064 |
Dpm3-Cdg |
|
Calf muscle hypertrophy, Muscular dystrophy, Dilated cardiomyopathy, Pelvic girdle muscle weaknes... |
ORPHA:263494 |
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2 |
|
Malar rash, Dilated cardiomyopathy |
OMIM:618097 |
Partial Atrioventricular Septal Defect |
|
Double outlet right ventricle, Partial atrioventricular canal defect, Bacterial endocarditis, Cor... |
ORPHA:1330 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Patent foramen ovale, Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular nonc... |
OMIM:619167 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Hepatitis, Autoimmunity, Lymphopenia, Autoimmune thrombocytopenia, Recurrent ot... |
ORPHA:444463 |
Idiopathic Neonatal Atrial Flutter |
|
Supraventricular tachycardia, Reduced left ventricular ejection fraction, Abnormal EKG, Paroxysma... |
ORPHA:45452 |
Cardiomyopathy, Dilated, 1S |
|
Sudden cardiac death, Pulmonary arterial hypertension, Interstitial cardiac fibrosis, Reduced lef... |
OMIM:613426 |
Tooth Agenesis, Selective, 8 |
|
Sparse eyebrow, Selective tooth agenesis, Microdontia, Sparse hair, Dry skin |
OMIM:617073 |
Spermatogenic Failure 54 |
|
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospermia, Cryptozoospermia,... |
OMIM:619379 |
Netherton Syndrome |
|
Hypereosinophilia, Sparse eyebrow, Sparse scalp hair, Allergic rhinitis, Brittle hair, Brittle sc... |
OMIM:256500 |
Ventricular Tachycardia, Familial |
|
Sudden cardiac death, Right bundle branch block, Paroxysmal ventricular tachycardia, Cardiomyopathy |
OMIM:192605 |
Masp2 Deficiency |
|
Recurrent pneumonia, Systemic lupus erythematosus, Ulcerative colitis |
OMIM:613791 |
Ichthyosis, Congenital, Autosomal Recessive 9 |
|
Hypohidrosis, Orthokeratosis, Eclabion, Congenital nonbullous ichthyosiform erythroderma, Erythro... |
OMIM:615023 |
Male Infertility Due To Acephalic Spermatozoa |
|
Abnormal sperm mid-piece morphology, Androgen insufficiency, Reduced sperm motility, Oligospermia... |
ORPHA:529970 |
Spermatogenic Failure, X-Linked, 3 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:301059 |
Myopathy, Centronuclear, 5 |
|
Hip contracture, Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Weakness of ... |
OMIM:615959 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Conical tooth, Alopecia, Hypoplastic toenails, Small nail, Sparse scalp hair, Pili torti, Enamel ... |
OMIM:613573 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Centrally nucleated ... |
ORPHA:86812 |
Complement Component C1S Deficiency |
|
Hepatitis, Hashimoto thyroiditis, Systemic lupus erythematosus |
OMIM:613783 |
Spermatogenic Failure 51 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... |
OMIM:619177 |
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Dystrophic toenail, Pruritus, Absent toenail, Palmoplantar hyperkeratosis, Abnormal fingernail mo... |
ORPHA:89838 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Lymphadenitis, Leukopenia, T lymphocytopenia, Bronchiectasis, Monocytopenia, Impaired neutrophil ... |
OMIM:618986 |
Spermatogenic Failure 56 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:619515 |
Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:614822 |
Spermatogenic Failure 11 |
|
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:615081 |
Winchester Syndrome |
|
Hirsutism, Gingival overgrowth, Corneal opacity |
OMIM:277950 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Hypohidrosis, Corneal dystrophy, Skin ulcer, Keratoconjunctivitis sicca, Fine hair, Microcornea, ... |
ORPHA:1806 |
Carnitine Deficiency, Systemic Primary |
|
Endocardial fibroelastosis, Reduced muscle carnitine level, Congestive heart failure, Hypertrophi... |
OMIM:212140 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Diabetes mellitus, Hepatomegaly, Pancrea... |
ORPHA:79084 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Left ventricular hypertrophy, Myopathy, Hepatomegaly, Cardiomegaly, Cardiomyopathy |
OMIM:617713 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Sudden cardiac death, Absent muscle fiber emerin, Supraventricular arrhythmia, Elbow flexion cont... |
ORPHA:98863 |
Supravalvular Aortic Stenosis |
|
Supravalvular aortic stenosis, Arrhythmia |
ORPHA:3193 |
Hypotrichosis 6 |
|
Sparse eyebrow, Pili torti, Brittle hair, Follicular hyperkeratosis, Erythema, Sparse eyelashes, ... |
OMIM:607903 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypertrophic cardiomyopathy, Flexion contracture, Bradycardia, Dilated cardiomyopathy |
OMIM:618815 |
Distal Myopathy With Posterior Leg And Anterior Hand Involvement |
|
Finger flexor weakness, Weakness of facial musculature, Intrinsic hand muscle atrophy, Foot dorsi... |
ORPHA:63273 |
Myopathy, Myofibrillar, 3 |
|
Achilles tendon contracture, Muscle fiber cytoplasmatic inclusion bodies, Myofibrillar myopathy, ... |
OMIM:609200 |
Cardiomyopathy, Dilated, 1Q |
|
Dilated cardiomyopathy |
OMIM:609915 |
Cardiomyopathy, Dilated, 1H |
|
Dilated cardiomyopathy |
OMIM:604288 |
Ectodermal Dysplasia 7, Hair/Nail Type |
|
Alopecia, Sparse eyebrow, Sparse scalp hair, Dystrophic toenail, Brittle hair, Onycholysis, Abnor... |
OMIM:614929 |
Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism |
|
Long philtrum, Widow's peak, Thin upper lip vermilion, Thick eyebrow, Sparse hair, Atopic dermatitis |
OMIM:606242 |
Immunodeficiency 76 |
|
Lymphopenia, Splenomegaly, T lymphocytopenia, B lymphocytopenia |
OMIM:619164 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Conjunctivitis, Alopecia, Cirrhosis, Ichthyosis, Short stature, Elevated hepatic transaminase, El... |
OMIM:242150 |
Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
Adult-Onset Nemaline Myopathy |
|
Increased variability in muscle fiber diameter, Flexion contracture, Lower limb muscle weakness, ... |
ORPHA:171442 |
Omenn Syndrome |
|
Alopecia, Anemia, Thickened skin, Hypoplasia of the thymus, B lymphocytopenia, Failure to thrive,... |
OMIM:603554 |
Cirrhotic Cardiomyopathy |
|
Elevated pulmonary artery pressure, Left ventricular diastolic dysfunction, Third heart sound, Re... |
ORPHA:57777 |
Heart-Hand Syndrome, Slovenian Type |
|
Myopathy, Dilated cardiomyopathy |
OMIM:610140 |
Cln3 Disease |
|
T-wave inversion, Left ventricular hypertrophy, Hirsutism, Bradycardia, Vacuolated lymphocytes, Acne |
ORPHA:228346 |
Spermatogenic Failure 40 |
|
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Coiled sperm flagell... |
OMIM:618664 |
Spermatogenic Failure 76 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:620084 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Alopecia, Thin bony cortex, Generalized bone demineralization, Genu valgum, Metaphyseal irregular... |
OMIM:600785 |
Ichthyosis Prematurity Syndrome |
|
Generalized ichthyosis, Allergic rhinitis, Alopecia of scalp, Erythroderma, Pruritus, Follicular ... |
OMIM:608649 |
Immunodeficiency 68 |
|
Lymphadenitis, Septic arthritis, Abnormal natural killer cell count, T lymphocytopenia, B lymphoc... |
OMIM:612260 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Partial atrioventricular canal defect, Ventricular septal defect, Bicuspid aortic valve, Secundum... |
OMIM:620066 |
Trichothiodystrophy 1, Photosensitive |
|
Tiger tail banding, Keratoconjunctivitis sicca, Erythroderma, Sparse hair, Small nail, Congenital... |
OMIM:601675 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Left ventricular outflow tract obstruction, Ventricular septal defect, Abnormal mitral valve morp... |
ORPHA:860 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Complete heart block with narrow QRS complexes, Abnormal cardiac ventricular function, Paroxysmal... |
ORPHA:1677 |
Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Complete heart block with narrow QRS complexes, Syncope, Atrioventricular b... |
OMIM:140400 |
Atrial Fibrillation, Familial, 15 |
|
Sudden cardiac death, Supraventricular tachycardia, Left atrial enlargement, Atrial flutter, Atri... |
OMIM:615770 |
46,Xx Testicular Disorder Of Sex Development |
|
Male hypogonadism, Ambiguous genitalia, Polycystic ovaries, Decreased testicular size |
ORPHA:393 |
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Pruritus, Leukonychia, Onycholysis, Scaling skin, Punctate palmoplantar hyperkeratosis, Acantholy... |
OMIM:616295 |
Cardiomyopathy, Familial Hypertrophic, 9 |
|
Hypertrophic cardiomyopathy |
OMIM:613765 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Decreased CD4:CD8 ratio, Chronic oral candidiasis, T lymphocytopenia, Hemolytic anemia, B lymphoc... |
OMIM:606367 |
Peeling Skin Syndrome 5 |
|
Scaling skin, Hyperkeratosis, Epidermal acanthosis |
OMIM:617115 |
Ulerythema Ophryogenesis |
|
Facial erythema, Hyperkeratotic papule, Sparse lateral eyebrow, Contact dermatitis, Follicular hy... |
ORPHA:3406 |
Microcephaly-Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:2515 |
Spermatogenic Failure 42 |
|
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Male inf... |
OMIM:618745 |
Clouston Syndrome |
|
Conjunctivitis, Alopecia, Sparse eyebrow, Small nail, Brittle hair, Palmoplantar hyperkeratosis, ... |
OMIM:129500 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Presyncope, Premature ventricular contraction, Ventricular tachycardia, Palpitations, Left bundle... |
OMIM:618920 |
Keratoderma Hereditarium Mutilans |
|
Alopecia, Sensorineural hearing impairment, Ichthyosis, Honeycomb palmoplantar hyperkeratosis, Ab... |
ORPHA:494 |
Hidrotic Ectodermal Dysplasia, Halal Type |
|
Sparse body hair, Retrognathia, Sparse scalp hair, Absent eyelashes, Supernumerary nipple, Tricho... |
ORPHA:1809 |
Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Enamel hypoplasia, Palmar hyperhidrosis, Hypodontia, Plantar hyperkeratosis, Fragile nails, Oral ... |
OMIM:226650 |
Hereditary Progressive Mucinous Histiocytosis |
|
Lymphadenopathy, Pruritus, Mucinous histiocytosis |
ORPHA:158025 |
Atrial Septal Defect, Ostium Secundum Type |
|
Systolic heart murmur, Supraventricular arrhythmia, Abnormal left ventricular function, Palpitati... |
ORPHA:99103 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Alopecia, Thickened skin, Sensorineural hearing impairment, Palmoplantar hyperhidrosis, Anhidrosi... |
ORPHA:659 |
Pityriasis Rubra Pilaris |
|
Orthokeratosis, Parakeratosis, Subungual hyperkeratosis, Palmoplantar keratoderma, Hypergranulosis |
OMIM:173200 |
Verrucous Hemangioma |
|
Hyperkeratotic papule, Epidermal acanthosis, Inflammatory abnormality of the skin |
ORPHA:464318 |
Cardiomyopathy, Dilated, 1Y |
|
Ebstein anomaly of the tricuspid valve, Congestive heart failure, Dilated cardiomyopathy, Increas... |
OMIM:611878 |
3-Methylglutaconic Aciduria, Type V |
|
Sudden cardiac death, Normochromic microcytic anemia, Diaphragmatic eventration, Dilated cardiomy... |
OMIM:610198 |
Spermatogenic Failure 39 |
|
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospe... |
OMIM:618643 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Alopecia, Multinodular goiter, Scaling skin, Alopecia of scalp, Dry skin, Palmoplantar keratoderm... |
OMIM:618373 |
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant |
|
Sparse eyebrow, Hypohidrosis, Hypodontia, Anodontia, Microdontia, Fine hair, Ridged nail, Sparse ... |
OMIM:129490 |
Mitral Valve Prolapse 3 |
|
Mitral valve prolapse, Mitral regurgitation |
OMIM:610840 |
Mitral Valve Prolapse 2 |
|
Mitral valve prolapse, Mitral regurgitation |
OMIM:607829 |
Selective Igm Deficiency |
|
Recurrent vulvovaginal candidiasis, Bronchiectasis, Fasciitis, Recurrent sinusitis, Decreased pro... |
ORPHA:331235 |
Olmsted Syndrome, X-Linked |
|
Posterior blepharitis, Palmoplantar hyperkeratosis, Alopecia totalis, Parakeratosis, Palmoplantar... |
OMIM:300918 |
Scheie Syndrome |
|
Aortic regurgitation, Aortic valve stenosis |
OMIM:607016 |
Developmental And Epileptic Encephalopathy 18 |
|
Aortic regurgitation, Highly arched eyebrow, Atrial septal defect |
OMIM:615476 |
Ehlers-Danlos Syndrome, Cardiac Valvular Type |
|
Aortic regurgitation, Mitral valve prolapse, Mitral regurgitation |
OMIM:225320 |
Cortisone Reductase Deficiency 1 |
|
Alopecia, Hirsutism, Acne |
OMIM:604931 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Bicuspid aortic valve, Dilated cardiomyopathy, Aortic regurgitation, Renovascular hypertension, H... |
ORPHA:401923 |
Ring Chromosome Y Syndrome |
|
Urogenital sinus anomaly, Ambiguous genitalia, Gonadoblastoma, Abnormal spermatogenesis, Ambiguou... |
ORPHA:261529 |
Ataxia, Deafness, And Cardiomyopathy |
|
Cardiomyopathy |
OMIM:208750 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Decreased level of coenzyme Q10 in skeletal muscle, Bradycardia, Left ventricular hypertrophy |
OMIM:614654 |
Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:169079 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Hypohidrosis, Hypoplastic toenails, Delayed eruption of teeth, Advanced eruption of teeth, Abnorm... |
ORPHA:1028 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Cardiomegaly, Contractures of the large joints, Abnormal atrioventricular valve morphology, Mitra... |
ORPHA:324410 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Congestive heart failure, Woolly hair, Pr... |
OMIM:607450 |
Barth Syndrome |
|
Endocardial fibroelastosis, Skeletal myopathy, Granulocytopenia, Fair hair, Dilated cardiomyopath... |
OMIM:302060 |
Netherton Syndrome |
|
Sparse eyebrow, Sparse scalp hair, Trichorrhexis nodosa, Ichthyosis, Short stature, Skin rash, Ec... |
ORPHA:634 |
Rat-Bite Fever |
|
Lymphadenitis, Septic arthritis, Endocarditis, Oligoarthritis, Maculopapular exanthema, Anemia, W... |
ORPHA:31205 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Ventricular tachycardia, Right ventricular dilatation, First degree atrioventricular block, Left ... |
OMIM:615616 |
Kearns-Sayre Syndrome |
|
Third degree atrioventricular block, Skeletal muscle atrophy, Ragged-red muscle fibers |
ORPHA:480 |
Palmoplantar Keratoderma, Norrbotten Recessive Type |
|
Recurrent cutaneous fungal infections, Hyperkeratosis, Palmoplantar keratoderma |
OMIM:244850 |
Ichthyosis, Congenital, Autosomal Recessive 13 |
|
Hyperkeratosis, Ichthyosis, Palmoplantar hyperkeratosis, Hypergranulosis |
OMIM:617574 |
Angioma Serpiginosum, X-Linked |
|
Hyperkeratosis, Sparse hair, Nail dystrophy, Fine hair |
OMIM:300652 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Right bundle branch block, Reduced left ventricular ejection fraction, Concentric hypertrophic ca... |
OMIM:613243 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Sudden cardiac death, Dilatation of the ventricular cavity, Right ventricular cardiomyopathy, Fib... |
OMIM:609040 |
Essential Fructosuria |
|
Hyperglycemia |
ORPHA:2056 |
Muscular Dystrophy, Congenital, Megaconial Type |
|
Muscular dystrophy, Congenital muscular dystrophy, Dilated cardiomyopathy, Myopathy, Facial palsy |
OMIM:602541 |
Isolated Succinate-Coq Reductase Deficiency |
|
Knee flexion contracture, Skeletal myopathy, Left ventricular hypertrophy, Noncompaction cardiomy... |
ORPHA:3208 |
Atrioventricular Dissociation |
|
Congenital atrioventricular dissociation |
OMIM:209600 |
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Sparse body hair, Hypohidrosis, Sparse scalp hair, Eczema, Palmoplantar keratoderma, Sparse eyela... |
OMIM:618535 |
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy |
|
Reduced terminal:vellus ratio, Sparse hair, Pili torti |
OMIM:601553 |
Immunodeficiency 104 |
|
Splenomegaly, T lymphocytopenia |
OMIM:608971 |
Congenital Myopathy 8 |
|
Increased variability in muscle fiber diameter, Muscle fiber atrophy, Internally nucleated skelet... |
OMIM:618654 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased... |
OMIM:615513 |
Glycogen Storage Disease Xv |
|
Right bundle branch block, T-wave inversion, Paroxysmal ventricular tachycardia, Type 1 muscle fi... |
OMIM:613507 |
Gne Myopathy |
|
Tibialis muscle weakness, Increased variability in muscle fiber diameter, Weakness of long finger... |
ORPHA:602 |
Osteopenia And Sparse Hair |
|
Sparse hair |
OMIM:259690 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Splenomegaly |
OMIM:606445 |
Familial Dyskinesia And Facial Myokymia |
|
Facial myokymia, Congestive heart failure, Dilated cardiomyopathy, Limb hypertonia |
ORPHA:324588 |
Periventricular Nodular Heterotopia |
|
Aortic regurgitation, Abnormal heart valve morphology |
ORPHA:98892 |
Schopf-Schulz-Passarge Syndrome |
|
Apocrine hidrocystoma, Small nail, Poroma, Hypodontia, Thin nail, Onycholysis, Ridged nail, Palmo... |
OMIM:224750 |
Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Alopecia |
OMIM:241090 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Patent foramen ovale, Ventricular septal defect, Inflammatory abnormality of the skin, Pericardia... |
ORPHA:26793 |
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1 |
|
Congenital bullous ichthyosiform erythroderma, Palmoplantar keratoderma, Follicular hyperkeratosi... |
OMIM:613000 |
Mitral Valve Prolapse 1 |
|
Mitral valve prolapse, Mitral regurgitation |
OMIM:157700 |
Trichothiodystrophy 9, Nonphotosensitive |
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Sparse eyebrow, Dental malocclusion, Tiger tail banding, Ichthyosis, High, narrow palate, Sparse ... |
OMIM:619692 |
Combined Oxidative Phosphorylation Deficiency 8 |
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Increased variability in muscle fiber diameter, Reduced left ventricular ejection fraction, Conge... |
OMIM:614096 |
Cardiomyopathy, Familial Hypertrophic, 15 |
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Pulmonary arterial hypertension, Myofiber disarray, Apical hypertrophic cardiomyopathy, Left vent... |
OMIM:613255 |
Mt-Atp6-Related Mitochondrial Spastic Paraplegia |
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Supraventricular arrhythmia, Distal lower limb muscle weakness, Leg muscle stiffness, Cardiomyopathy |
ORPHA:320360 |
Weill-Marchesani Syndrome |
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Aortic valve stenosis, Mitral regurgitation, Pulmonic stenosis, Ventricular septal defect |
ORPHA:3449 |
Isobutyryl-Coa Dehydrogenase Deficiency |
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Pulmonic stenosis, Dilated cardiomyopathy |
ORPHA:79159 |
Cardiac Lipidosis, Familial |
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Congestive heart failure, Cardiomyopathy |
OMIM:212080 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
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Alopecia, Anemia, Hepatitis, Arthritis, Coombs-positive hemolytic anemia, Eczema, Autoimmune thro... |
OMIM:304790 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
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Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Centrally nucleated ... |
OMIM:616812 |
Ichthyosis, Congenital, Autosomal Recessive 10 |
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Generalized ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Orthokeratotic hyperker... |
OMIM:615024 |
Spermatogenic Failure 24 |
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Tapered sperm head, Short sperm flagella, Reduced sperm motility, Microcephalic sperm head, Coile... |
OMIM:617959 |
Congenital Aortic Valve Stenosis |
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Endocarditis, Aortic valve atresia, Sudden cardiac death, Abnormal T-wave, Increased QRS voltage,... |
ORPHA:3093 |