Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly |
OMIM:604765 |
Ovarian Dysgenesis 7 |
|
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Decreased serum estradi... |
OMIM:618117 |
Ovarian Dysgenesis 5 |
|
Short stature, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Decrease... |
OMIM:617690 |
Ovarian Dysgenesis 9 |
|
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Hypoplasia of the ovary... |
OMIM:619665 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Micropenis, Decreased circulating gonadotropin con... |
OMIM:614841 |
46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus... |
OMIM:612965 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... |
ORPHA:168563 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... |
OMIM:614842 |
Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Absence of pubertal development |
OMIM:618078 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Obesity, Cardiomegaly |
ORPHA:88643 |
Perrault Syndrome 3 |
|
Streak ovary, Hypergonadotropic hypogonadism, Short stature, Elevated circulating luteinizing hor... |
OMIM:614129 |
Premature Ovarian Failure 18 |
|
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Hypoplasia of the ovary... |
OMIM:619203 |
Premature Ovarian Failure 7 |
|
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Gonadal dysgenesis, Ele... |
OMIM:612964 |
Ovarian Dysgenesis 2 |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Delayed puberty |
OMIM:300510 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Decreased circula... |
OMIM:614837 |
46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Absence of pubertal ... |
OMIM:273250 |
Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... |
ORPHA:325124 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypertriglyceridemia, Impaired glucose tolerance, Increased LDL cholesterol concentration, Glucos... |
OMIM:610947 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the vagina, Clitoral hypertrophy, Short stature, Congenital adrenal hyperplasia, De... |
OMIM:202010 |
Estrogen Resistance |
|
Increased circulating osteocalcin level, Hyperinsulinemia, Increased serum estradiol, Polycystic ... |
OMIM:615363 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... |
OMIM:600649 |
Seckel Syndrome 7 |
|
Hypoplasia of the uterus, Intrauterine growth retardation, Severe short stature, Central hypothyr... |
OMIM:614851 |
46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... |
OMIM:278850 |
Premature Ovarian Failure 6 |
|
Hypoplasia of the uterus, Streak ovary, Elevated circulating follicle stimulating hormone level, ... |
OMIM:612310 |
Premature Ovarian Failure 13 |
|
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level |
OMIM:617442 |
Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus |
OMIM:608996 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Diabetes mellitus, Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, T... |
OMIM:606176 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Decreased serum estradiol, Decreased circulating androgen concentration... |
ORPHA:90796 |
46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... |
OMIM:233420 |
Complete Androgen Insensitivity Syndrome |
|
Abnormal uterine cervix morphology, Elevated circulating luteinizing hormone level, Testicular ne... |
ORPHA:99429 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Cardiomegaly |
OMIM:618838 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, C... |
OMIM:212140 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Alopecia, Diabetes mellitus, Cardiomegaly, Increased circulating ferritin concentra... |
OMIM:235200 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Synophrys, Hyperprolinemia, Long eyelas... |
OMIM:619064 |
Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... |
ORPHA:785 |
Perrault Syndrome 6 |
|
Hypoplasia of the uterus, Streak ovary |
OMIM:617565 |
Satoyoshi Syndrome |
|
Short stature, Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary,... |
ORPHA:3130 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Small for gestational age, Hypoglycemia, Cardiomegaly, Pericardial effusion, Hyperammonemia, Hype... |
OMIM:614702 |
Müllerian Aplasia And Hyperandrogenism |
|
Short stature, Hypoplasia of the uterus, Increased serum testosterone level, Abnormal vagina morp... |
ORPHA:247768 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce... |
OMIM:606069 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Hypoplasia of the uterus, Azoospermia, Bicornuate uterus, Short stature |
OMIM:601076 |
Perrault Syndrome 4 |
|
Increased circulating gonadotropin level, Hypoplasia of the uterus, Hypoplasia of the ovary, Decr... |
OMIM:615300 |
Diethylstilbestrol Syndrome |
|
Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... |
ORPHA:1916 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ... |
ORPHA:432 |
Amed Syndrome, Digenic |
|
Hypoplasia of the uterus, Short stature, Adrenal hypoplasia |
OMIM:619151 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Small for gestational age, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal ... |
OMIM:620135 |
Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Ambiguous genitalia, Clitoral hypertrophy, Hypospadias, Elevat... |
ORPHA:90797 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Hypoplasia of the uterus, Intrauterine growth retardation, Short stature, Vaginal atresia |
OMIM:617914 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... |
ORPHA:90793 |
Leydig Cell Hypoplasia |
|
Abnormal internal genitalia, Hypergonadotropic hypogonadism, Female hypogonadism, Hypospadias, Ab... |
ORPHA:755 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Fair hair, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Failure to th... |
OMIM:269920 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Hyperalaninemia, Perimembranous ventricular septal defect, Hyperprolinemia, Cardiomegaly |
OMIM:619170 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, T... |
OMIM:255120 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Left atrial enlargement, Elevated circulating creatine kinase concentrat... |
OMIM:300280 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Sparse hair, Cardiomegaly |
OMIM:613576 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Failure to thrive, Cardiomegaly |
OMIM:614096 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hypoplasia of the uterus, Aplasia of the vagina |
OMIM:277000 |
Meckel Syndrome 12 |
|
Hypoplasia of the uterus, Intrauterine growth retardation, Vaginal atresia |
OMIM:616258 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Weight loss, Cardiomegaly |
ORPHA:85447 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concentration, Cachexia, Cardiom... |
ORPHA:42 |
Mody |
|
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... |
ORPHA:552 |
Satoyoshi Syndrome |
|
Hypoplasia of the uterus, Short stature |
OMIM:600705 |
Woodhouse-Sakati Syndrome |
|
Streak ovary, Hypoplasia of the fallopian tube, Decreased response to growth hormone stimulation ... |
ORPHA:3464 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Short stature, Decreased response to growth hormone stimulation test, Hypoplasia of the uterus, G... |
OMIM:615866 |
Mullerian Aplasia And Hyperandrogenism |
|
Abnormal external genitalia, Increased circulating dehydroepiandrosterone-sulfate concentration, ... |
OMIM:158330 |
Hydatidiform Mole |
|
Hyperthyroidism, Enlarged uterus |
ORPHA:99927 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Synophrys, Asymmetric septal hypertrophy, Coarse hair, ... |
OMIM:252920 |
46,Xy Sex Reversal 4 |
|
Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hypoplasia of the uterus, Gonadal dysgen... |
OMIM:154230 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Nonketotic hypoglycemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Cardio... |
OMIM:201475 |
Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Failure to thrive in infancy, Cardiomegaly |
ORPHA:858 |
Woodhouse-Sakati Syndrome |
|
Decreased serum insulin-like growth factor 1, Diabetes mellitus, Hypogonadotropic hypogonadism, H... |
OMIM:241080 |
Attrv122I Amyloidosis |
|
Increased circulating NT-proBNP concentration, Cardiomegaly, Hypertrophic cardiomyopathy, Aortic ... |
ORPHA:85451 |
Acromesomelic Dysplasia 3 |
|
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Hypoplasia of the... |
OMIM:609441 |
Timothy Syndrome |
|
Ventricular septal defect, Hypoglycemia, Cardiomegaly, Hypocalcemia, Tetralogy of Fallot, Patent ... |
OMIM:601005 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Cardiomegaly, Hyperammonemia, Hyperalaninemia, Hypertrophic cardiomyopathy |
OMIM:619051 |
Microphthalmia, Syndromic 9 |
|
Severe short stature, Short stature, Cryptorchidism, Hypoplasia of the uterus, Bicornuate uterus,... |
OMIM:601186 |
Cantu Syndrome |
|
Bicuspid aortic valve, Curly eyelashes, Large for gestational age, Pericardial effusion, Cardiome... |
OMIM:239850 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Diabetes mellitus, Cardiomegaly, Increased circulating ferritin concentration, Elev... |
ORPHA:465508 |
Insulin-Resistance Syndrome Type B |
|
Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Hypoalbuminemia, Fasting hy... |
ORPHA:2298 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Small for gestational age, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ... |
ORPHA:555874 |
Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Left atrial enlargement, Cardiomegal... |
ORPHA:57777 |
Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly |
ORPHA:615 |
Popliteal Pterygium Syndrome |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... |
OMIM:119500 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Sex reversal, In... |
ORPHA:289548 |
Mulibrey Nanism |
|
Hepatomegaly, Myocardial fibrosis, Pericardial constriction, Cardiomegaly |
OMIM:253250 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Sex reversal, Increased circulating ren... |
ORPHA:168558 |
Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Cardiomegaly |
OMIM:618652 |
Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Hypoglycemia, Hyperammonemia, Cardiomegaly |
ORPHA:391428 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... |
ORPHA:3092 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Micropeni... |
OMIM:201750 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Cardiomyopathy, L... |
OMIM:617713 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Nonketotic hypoglycemia, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concent... |
OMIM:608836 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Short stature, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Hypoplas... |
OMIM:618419 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat... |
ORPHA:228308 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... |
ORPHA:363705 |
Neuraminidase Deficiency |
|
Splenomegaly, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
OMIM:256550 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... |
OMIM:115197 |
Refsum Disease, Classic |
|
Cardiomyopathy, Elevated circulating phytanic acid concentration, Cardiomegaly |
OMIM:266500 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Premature ... |
ORPHA:90794 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Hypoplasia of the uterus, Increased circulating gonadotropin level |
OMIM:110100 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Curly hair, Right ventricular cardiomyopathy... |
OMIM:601214 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hypospadias, Short stature, Ovotestis, Hypoplasia of the uterus, Chordee, Micropenis, Clitoral hy... |
OMIM:309801 |
Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... |
ORPHA:2041 |
Renal And Mullerian Duct Hypoplasia |
|
Hydrocele testis, Anteriorly displaced urethral meatus, Severe postnatal growth retardation, Apla... |
OMIM:266810 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
Danon Disease |
|
Myocardial necrosis, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated ca... |
OMIM:300257 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Left ventricular ... |
ORPHA:308552 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatosplenomegaly, Hepatomegaly, Failure to thrive, Cardiomegaly |
ORPHA:99931 |
Cantú Syndrome |
|
Abnormal heart valve morphology, Curly eyelashes, Cardiomegaly, Low anterior hairline, Low poster... |
ORPHA:1517 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Small for gestational age, Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly |
OMIM:616897 |
Pseudo-Torch Syndrome 3 |
|
Increased circulating ferritin concentration, Cardiomegaly |
OMIM:618886 |
Renal Cysts And Diabetes Syndrome |
|
Diabetes mellitus, Hypospadias, Maturity-onset diabetes of the young, Hypoplasia of the uterus, B... |
OMIM:137920 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Hypophosphatemic rickets, Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Ventricular septal defect, Elevated circulating creatine kinase concentration, Hypo... |
OMIM:614921 |
Glycogen Storage Disease Ii |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase... |
OMIM:232300 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Dec... |
ORPHA:572333 |
Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... |
OMIM:306955 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Mitral valve prolapse, Abnormal atrioventricular valve morphology, Cardiom... |
ORPHA:324410 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Small for gestational age, Cardiomegaly |
OMIM:613320 |
Mogs-Cdg |
|
Hepatomegaly, Alopecia, Fair hair, Cardiomegaly, Hepatosplenomegaly, Long eyelashes, Atrial septa... |
ORPHA:79330 |
Lumbar Syndrome |
|
Bifid scrotum, Hypospadias, Spina bifida, Bifid uterus, Cryptorchidism, Myelomeningocele, Hypopla... |
ORPHA:83628 |
Lethal Acantholytic Erosive Disorder |
|
Absent eyebrow, Cardiomegaly, Absent eyelashes, Cardiomyopathy, Congenital alopecia totalis, Abse... |
ORPHA:158687 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... |
OMIM:231005 |
Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Failure to thrive, Ventricular septal defect, Cardiomegaly, Bicuspi... |
ORPHA:3427 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Cardiomegaly, Abnormal circulating ceruloplasmin concentration, Abnormal circulating copper conce... |
OMIM:620306 |
Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... |
ORPHA:1329 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Mitral v... |
OMIM:602782 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Elevated circulating creatine kinase concentration, Right ventricular hypertrophy, Cardiomegaly |
ORPHA:268 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Fucosidosis |
|
Hepatomegaly, Failure to thrive, Cardiomegaly |
ORPHA:349 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Diabetes mellitus, Septate vagina, Uterus didelphys, Parathyroid hypoplasia, ... |
ORPHA:2237 |
Peters Plus Syndrome |
|
Hypospadias, Short stature, Rhizomelia, Postnatal growth retardation, Cryptorchidism, Congenital ... |
ORPHA:709 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Eunuchoid habitus, Cardiomegaly, Synophrys, Low posterior hairline, Hirsutism |
ORPHA:2463 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Neonatal hypoglycemia, Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content,... |
OMIM:261740 |
Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Failure to thrive, Cardiomegaly, Decreased... |
ORPHA:14 |
Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Decreased body weight |
OMIM:608013 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Low posterior hairline, Atrial septal... |
OMIM:245600 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Cardiomegaly |
OMIM:105210 |
Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Brittle hair, Increased serum beta-hexosaminidase, Cardiomegaly, Sparse eyebrow, Sp... |
OMIM:252500 |
Sandhoff Disease |
|
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:268800 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Hypophosphatemic rickets, Dilated cardiomyopathy, Cardiomegaly |
OMIM:208000 |
Townes-Brocks Syndrome 2 |
|
Rectovaginal fistula, Spina bifida occulta, Hypospadias, Bifid uterus |
OMIM:617466 |
Peters-Plus Syndrome |
|
Hypoplasia of the vagina, Hypospadias, Rhizomelia, Postnatal growth retardation, Cryptorchidism, ... |
OMIM:261540 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Hypoparathyroidism, Septate vagina, Uterus didelphys, Aplasia of the vagina, Aplasia of the uterus |
OMIM:146255 |
Fucosidosis |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Failure to thrive, Thick eyebrow |
OMIM:230000 |
Liver Disease, Severe Congenital |
|
Dry hair, Cardiomegaly, Hypocalcemia, Elevated hepatic iron concentration, Atrial septal defect, ... |
OMIM:619991 |
Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Thick hair, Cardiomegaly, Splenomegaly, Synophrys, Coarse hair, Abnormal aortic val... |
ORPHA:581 |
Lethal Congenital Contracture Syndrome 10 |
|
Overriding aorta, Ventricular septal defect, Cardiomegaly |
OMIM:617022 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Cardiomegaly |
OMIM:619259 |
Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Highly arched eyebrow, Cardiomegaly |
OMIM:618143 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Impaired glucose tol... |
OMIM:256040 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Unconjugated hyperbiliru... |
OMIM:618278 |
Congenital Tracheomalacia |
|
Failure to thrive, Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous re... |
ORPHA:95430 |
Ogden Syndrome |
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Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomegaly, Secundum... |
OMIM:300855 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
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Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Left ventricular ... |
ORPHA:365 |
Sickle Cell Disease |
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Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:603903 |
Histiocytoid Cardiomyopathy |
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Hepatomegaly, Ventricular septal defect, Hypoglycemia, Cardiomegaly, Failure to thrive |
ORPHA:137675 |
Paternal Uniparental Disomy Of Chromosome 6 |
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Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Ventricular septal defect, Cardiomegaly |
ORPHA:96191 |
Oeis Complex |
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Bifid uterus, Epispadias, Myelomeningocele, Ambiguous genitalia, female, Cryptorchidism, Vesicova... |
OMIM:258040 |
Phocomelia, Schinzel Type |
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Hypoplasia of penis, Cryptorchidism, Meningocele, Disproportionate short stature, Aplasia of the ... |
ORPHA:2879 |
Bohring-Opitz Syndrome |
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Cardiomegaly, Synophrys, Abnormal cardiac septum morphology, Severe failure to thrive, Hypertrich... |
ORPHA:97297 |
Beckwith-Wiedemann Syndrome |
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Hepatomegaly, Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Cardiomegaly, L... |
ORPHA:116 |
Absence Of The Pulmonary Artery |
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Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... |
ORPHA:980 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
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Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Slender build, Cardiome... |
OMIM:300967 |
Tropical Endomyocardial Fibrosis |
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Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cachexia, Cardiomegaly, ... |
ORPHA:75565 |
Truncus Arteriosus |
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Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... |
ORPHA:3384 |
Familial Idiopathic Dilatation Of The Right Atrium |
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Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial... |
ORPHA:1677 |
Beckwith-Wiedemann Syndrome |
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Hepatomegaly, Neonatal hypoglycemia, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Enlarg... |
OMIM:130650 |
Fanconi Anemia, Complementation Group L |
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Growth delay, Intrauterine growth retardation, Micropenis, Aplasia of the uterus |
OMIM:614083 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
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Hypoplasia of the vagina, Aplasia of the uterus |
ORPHA:3109 |
Hydrolethalus Syndrome 1 |
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Hypospadias, Bifid uterus, Anencephaly, Stillbirth, Adrenal gland dysgenesis, Intrauterine growth... |
OMIM:236680 |
Aicardi-Goutières Syndrome |
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Hepatosplenomegaly, Hypertrophic cardiomyopathy, Diabetes mellitus, Cardiomegaly |
ORPHA:51 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
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Bicuspid aortic valve, Cardiomegaly |
ORPHA:91387 |
Williams Syndrome |
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Abnormal endocardium morphology, Overriding aorta, Bicuspid aortic valve, Hypercalcemia, Elevated... |
ORPHA:904 |
Congenital Total Pulmonary Venous Return Anomaly |
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Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... |
ORPHA:99125 |
Lethal Omphalocele-Cleft Palate Syndrome |
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Bifid uterus |
ORPHA:2736 |
Neu-Laxova Syndrome 1 |
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Spina bifida, Bifid uterus, Cryptorchidism, Stillbirth, Short umbilical cord, Small placenta, Neo... |
OMIM:256520 |
Yunis-Varon Syndrome |
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Sparse scalp hair, Ventricular septal defect, Sparse eyelashes, Cardiomegaly, Sparse eyebrow, Car... |
ORPHA:3472 |
Chromosome 17Q12 Deletion Syndrome |
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Short stature, Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicor... |
OMIM:614527 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
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Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia |
OMIM:271520 |
Pontocerebellar Hypoplasia Type 7 |
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Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi... |
ORPHA:284339 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
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Cardiomegaly |
ORPHA:79280 |
Exstrophy-Epispadias Complex |
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Bifid scrotum, Spina bifida, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal tra... |
ORPHA:322 |
Cardiac-Urogenital Syndrome |
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Bifid scrotum, Unilateral cryptorchidism, Cryptorchidism, Patent urachus, Aplasia of the uterus, ... |
OMIM:618280 |
Singleton-Merten Syndrome 1 |
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Mitral valve calcification, Cardiomegaly, Aortic valve calcification, High anterior hairline, Sub... |
OMIM:182250 |
Generalized Arterial Calcification Of Infancy |
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Ventricular hypertrophy, Failure to thrive in infancy, Cardiomegaly, Pericardial effusion, Myocar... |
ORPHA:51608 |
Townes-Brocks Syndrome 1 |
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Bifid scrotum, Rectoperineal fistula, Hypospadias, Bifid uterus, Cryptorchidism, Rectovaginal fis... |
OMIM:107480 |
Ehlers-Danlos Syndrome, Vascular Type |
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Short stature, Cryptorchidism, Cystocele, Cervical insufficiency, Uterine rupture, Uterine prolapse |
OMIM:130050 |