| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Microphthalmia, Isolated, With Coloboma 4 |
|
Microcornea, Coloboma |
OMIM:251505 |
| Microphthalmia, Isolated, With Coloboma 7 |
|
Coloboma |
OMIM:614497 |
| Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
| Microphthalmia, Isolated 4 |
|
Coloboma |
OMIM:613094 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cataract, Coloboma |
OMIM:120433 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Peters anomaly, Iris coloboma, Ocular anterior segment dysgenesis, Coloboma |
OMIM:610023 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Macroorchidism |
OMIM:300886 |
| Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Microcornea, Posterior lenticonus, Iris coloboma, Chorio... |
ORPHA:231736 |
| Autosomal Dominant Keratitis |
|
Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Opacification of the corneal stro... |
ORPHA:2334 |
| Testicular Regression Syndrome |
|
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... |
ORPHA:983 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
| Attrv30M Amyloidosis |
|
Abnormal autonomic nervous system physiology, Cardiomyopathy, Cardiomegaly |
ORPHA:85447 |
| Anterior Segment Dysgenesis 2 |
|
Congenital aphakia, Corneal opacity, Microcornea, Coloboma, Peters anomaly, Cataract, Posterior s... |
OMIM:610256 |
| Cardiomyopathy, Familial Hypertrophic 27 |
|
Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, Endocardial fibroelastosis... |
OMIM:618052 |
| 46,Xy Sex Reversal 3 |
|
Sex reversal, Hypoplasia of the uterus, Gonadal dysgenesis, Ambiguous genitalia, Penoscrotal hypo... |
OMIM:612965 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Optic disc pallor, Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
OMIM:617713 |
| 46,Xx Ovotesticular Disorder Of Sex Development |
|
Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid... |
ORPHA:2138 |
| Attrv122I Amyloidosis |
|
Cardiac amyloidosis, Aortic valve stenosis, Abnormal autonomic nervous system physiology, Restric... |
ORPHA:85451 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Abnormal vagina morphology, Hypoplasia of the uterus, Gonadal dysgenesis with female appearance, ... |
ORPHA:168563 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
| 46,Xy Sex Reversal 11 |
|
Urogenital sinus anomaly, Gonadal dysgenesis with female appearance, male, Vanishing testis, Abno... |
OMIM:273250 |
| Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus |
OMIM:618078 |
| Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
Cardiomegaly |
OMIM:618654 |
| Familial Atrial Myxoma |
|
Bacterial endocarditis, Pulmonic valve myxoma, Cardiomegaly, Cardiac myxoma |
ORPHA:615 |
| Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Bilateral cryptorchidism, ... |
OMIM:618652 |
| Leydig Cell Hypoplasia |
|
Cryptorchidism, Abnormal external genitalia, Abnormal vas deferens morphology, Hypergonadotropic ... |
ORPHA:755 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... |
ORPHA:860 |
| Ovarian Dysgenesis 7 |
|
Hypoplasia of the uterus |
OMIM:618117 |
| 46,Xy Sex Reversal 7 |
|
Sex reversal, Gonadal dysgenesis, male, Hypoplasia of the uterus, Streak ovary, Hypoplasia of the... |
OMIM:233420 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Decreased testicular size, A... |
OMIM:614837 |
| Congenital Tricuspid Valve Dysplasia |
|
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... |
ORPHA:555874 |
| Hemochromatosis, Type 1 |
|
Testicular atrophy, Hepatomegaly, Splenomegaly, Hypogonadotropic hypogonadism, Azoospermia, Cardi... |
OMIM:235200 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly |
OMIM:600649 |
| Timothy Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly |
OMIM:601005 |
| Danon Disease |
|
Myocardial fibrosis, Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ca... |
OMIM:300257 |
| Fixed Subaortic Stenosis |
|
Bacterial endocarditis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Atrioventricul... |
ORPHA:3092 |
| Carnitine Deficiency, Systemic Primary |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly, Endocardial fibroelastosis |
OMIM:212140 |
| Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:269920 |
| Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:858 |
| Ovarian Dysgenesis 5 |
|
Hypoplasia of the uterus |
OMIM:617690 |
| Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus |
OMIM:608996 |
| Complete Androgen Insensitivity Syndrome |
|
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Testicular neoplasm, ... |
ORPHA:99429 |
| Diethylstilbestrol Syndrome |
|
Hypoplasia of the uterus, Cryptorchidism, Micropenis, Hypospadias, Abnormality of the uterus, Abn... |
ORPHA:1916 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Cardiomegaly |
OMIM:619064 |
| Mulibrey Nanism |
|
Myocardial fibrosis, Hepatomegaly, Cardiomegaly, Pericardial constriction |
OMIM:253250 |
| Partial Androgen Insensitivity Syndrome |
|
Urogenital sinus anomaly, Blind vagina, Micropenis, Bifid scrotum, Hypospadias, Perineal hypospad... |
ORPHA:90797 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Right atrial enlargement, Hepatomegaly, Myofiber disarray, Muscular ventricular septal defect, Ve... |
OMIM:115197 |
| Testicular Agenesis |
|
Urogenital sinus anomaly, Hypoplasia of the uterus, Absent testis, Absent external genitalia, Abn... |
ORPHA:325124 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Orthostatic hypotension due to autonomic dysfunction, Abnormal autonomic nervous system physiolog... |
OMIM:105210 |
| Ovarian Dysgenesis 2 |
|
Hypergonadotropic hypogonadism, Hypoplasia of the uterus, Streak ovary |
OMIM:300510 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:619051 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Mitral valve prolapse, Abnormal atrioventricular valve morphology, Cardiom... |
ORPHA:324410 |
| Mullerian Aplasia And Hyperandrogenism |
|
Aplasia of the uterus, Aplasia of the vagina, Aplasia/Hypoplasia of the fallopian tube |
OMIM:158330 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Hypoplastic left heart, Aortic valve atresia, Tetralogy of Fallot, Abnorma... |
ORPHA:1457 |
| Premature Ovarian Failure 7 |
|
Hypoplasia of the uterus, Clitoral hypertrophy, Gonadal dysgenesis |
OMIM:612964 |
| Coronary Arterial Fistula |
|
Bacterial endocarditis, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Paten... |
ORPHA:2041 |
| Mucopolysaccharidosis, Type Iiib |
|
Asymmetric septal hypertrophy, Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:252920 |
| Neuraminidase Deficiency |
|
Hepatomegaly, Cardiomyopathy, Cardiomegaly, Splenomegaly |
OMIM:256550 |
| 46,Xx Sex Reversal 2 |
|
Sex reversal, Hypoplasia of the uterus, Micropenis, Bifid scrotum, Hypoplasia of the vagina, Ovot... |
OMIM:278850 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Micropenis, Hypogonadotropic hypogonadism, Dec... |
OMIM:614841 |
| Cardiac-Urogenital Syndrome |
|
Enlarged kidney, Ventricular septal defect, Ambiguous genitalia, Unilateral cryptorchidism, Tetra... |
OMIM:618280 |
| Cantu Syndrome |
|
Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion, Cardiomegaly |
OMIM:239850 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Aplasia of the vagina, Hypoplasia of the uterus |
OMIM:277000 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly |
OMIM:618838 |
| Gaucher Disease, Type Iiic |
|
Mitral stenosis, Aortic valve calcification, Hepatomegaly, Splenomegaly, Mitral valve calcificati... |
OMIM:231005 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Cardiomegaly |
OMIM:255120 |
| Isolated Right Ventricular Hypoplasia |
|
Right atrial enlargement, Atrial septal defect, Muscular ventricular septal defect, Patent forame... |
ORPHA:439 |
| Refsum Disease, Classic |
|
Cardiomyopathy, Cardiomegaly |
OMIM:266500 |
| Perrault Syndrome 6 |
|
Hypoplasia of the uterus, Streak ovary |
OMIM:617565 |
| Hsd10 Disease, Infantile Type |
|
Optic atrophy, Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Micropenis, Hypospadias, Ventricular septal defect, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:616897 |
| Mogs-Cdg |
|
Hydrocele testis, Absent brainstem auditory responses, Atrial septal defect, External genital hyp... |
ORPHA:79330 |
| Renal And Mullerian Duct Hypoplasia |
|
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus |
OMIM:266810 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Cardiomegaly |
ORPHA:42 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Biventricular hypertrophy, Cardiomyopathy, Cardiomegaly |
OMIM:261740 |
| Symptomatic Form Of Hemochromatosis Type 1 |
|
Testicular atrophy, Hepatomegaly, Splenomegaly, Hypogonadotropic hypogonadism, Cardiomyopathy, Ca... |
ORPHA:465508 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly |
ORPHA:99931 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly |
OMIM:201475 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Hepatomegaly, Atrioventricular canal defect, Enlarged kidney, Ventricular septal defect, Cardiome... |
OMIM:306955 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Optic atrophy, Cardiomyopathy, Cardiomegaly |
OMIM:619259 |
| Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Ventricular septal defect, Ab... |
ORPHA:363705 |
| Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Primum atrial septal defect, Right ventricular hypertrophy, Displacement of the pap... |
ORPHA:1329 |
| Lethal Congenital Contracture Syndrome 10 |
|
Ventricular septal defect, Overriding aorta, Cardiomegaly |
OMIM:617022 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Uterus didelphys, Septate vagina, Pseudopapilledema, Aplasia of the uterus, Aplasia of the vagina |
OMIM:146255 |
| Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Brachial plexus neuropathy, Cardiomegaly, Right ventricular hypertrophy |
ORPHA:268 |
| Cirrhotic Cardiomyopathy |
|
Right atrial enlargement, Hepatomegaly, Left ventricular hypertrophy, Left atrial enlargement, Ca... |
ORPHA:57777 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Uterus didelphys, Septate vagina, Aplasia of the uterus, Vaginal atresia, Abnormal heart morphology |
ORPHA:2237 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Lumbar Syndrome |
|
Bifid scrotum, Micropenis, Hypospadias, Bifid uterus, Ambiguous genitalia, Cryptorchidism, Hypopl... |
ORPHA:83628 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Atrial septal defect, Hepatomegaly, Micropenis, Hypergonadotropic hypogonadism, Pulmonic stenosis... |
OMIM:602782 |
| Hydatidiform Mole |
|
Enlarged uterus |
ORPHA:99927 |
| Sandhoff Disease |
|
Orthostatic hypotension, Hepatosplenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:268800 |
| Craniofaciofrontodigital Syndrome |
|
Cardiomegaly, Abnormal heart morphology |
OMIM:114620 |
| Pseudo-Torch Syndrome 3 |
|
Cardiomegaly |
OMIM:618886 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Precocious puberty in females, Blind vagina, Ambiguous genitalia, male, Micropenis, Ovarian cyst,... |
ORPHA:90793 |
| Fucosidosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:349 |
| Naxos Disease |
|
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Dilated ca... |
OMIM:601214 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Precocious puberty, Hepatomegaly, Ventricular septal defect, Labial hypertrophy, Cryptorchidism, ... |
ORPHA:96191 |
| Cantú Syndrome |
|
Abnormal heart valve morphology, Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:1517 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia of the uterus, Abnormal cardiac septum morphology, Tetralogy of Fallot |
ORPHA:3320 |
| 46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Urogenital sinus anomaly, Abnormal vagina morphology, Sex reversal, Midshaft hypospadias, Ambiguo... |
ORPHA:168558 |
| Leigh Syndrome With Nephrotic Syndrome |
|
Cardiomegaly |
ORPHA:255249 |
| Sickle Cell Anemia |
|
Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:603903 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Partial atrioventricular canal defect, Bicuspid aortic valve, Atrial septal defect, Secundum atri... |
OMIM:620066 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Urogenital sinus anomaly, Abnormal vagina morphology, Sex reversal, Midshaft hypospadias, Ambiguo... |
ORPHA:289548 |
| Townes-Brocks Syndrome 2 |
|
Hypospadias, Bifid uterus, Rectovaginal fistula |
OMIM:617466 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly, Enlarged kidney |
OMIM:608836 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly |
ORPHA:308552 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:608013 |
| Developmental And Epileptic Encephalopathy 95 |
|
Cryptorchidism, Hepatomegaly, Cardiomegaly |
OMIM:618143 |
| Congenital Disorder Of Glycosylation, Type It |
|
Ventricular septal defect, Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly |
OMIM:614921 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:208000 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Atrial septal defect, Left ventricular hypertrophy, Mitral valve prolapse,... |
OMIM:245600 |
| Fucosidosis |
|
Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:230000 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Pancreatic hyperplasia, Enlarged kidney, Gonadoblastoma, Cryptorchidism, Overgrowth... |
OMIM:130650 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the uterus, Ambiguous genitalia, female, Hypoplasia of the vagina, Long penis, Clit... |
OMIM:202010 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Cardiomyopathy, Abnormal myocardium morphology, Cardiomegaly |
ORPHA:228308 |
| Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Ventricular septal defect, Optic atrophy, Polycystic ovaries, Cardiomegaly |
ORPHA:137675 |
| Lethal Acantholytic Erosive Disorder |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:158687 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Aplasia of the uterus, Hypoplasia of the vagina |
ORPHA:3109 |
| Meckel Syndrome 14 |
|
Aplasia of the uterus, Ambiguous genitalia, Single ventricle |
OMIM:619879 |
| Congenital Tracheomalacia |
|
Atrial septal defect, Single ventricle, Tetralogy of Fallot, Ventricular septal defect, Partial a... |
ORPHA:95430 |
| Truncus Arteriosus |
|
Atrial septal defect, Right ventricular hypertrophy, Pulmonic stenosis, Tetralogy of Fallot, Vent... |
ORPHA:3384 |
| Absence Of The Pulmonary Artery |
|
Abnormal cardiac septum morphology, Atrial septal defect, Tetralogy of Fallot, Truncus arteriosus... |
ORPHA:980 |
| Mucopolysaccharidosis Type 3 |
|
Abnormal mitral valve morphology, Hepatomegaly, Splenomegaly, Abnormal aortic valve morphology, O... |
ORPHA:581 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Right atrial enlargement, Hepatomegaly, Right ventricular hypertrophy, Atrial septal dilatation, ... |
ORPHA:1677 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Left ventricular noncompaction cardiomyopathy, Atrial septal defect, Right ventricular hypertroph... |
OMIM:300967 |
| Oeis Complex |
|
Labial hypoplasia, Ambiguous genitalia, female, Vesicovaginal fistula, Ambiguous genitalia, male,... |
OMIM:258040 |
| Glycogen Storage Disease Ii |
|
Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:232300 |
| Pontocerebellar Hypoplasia Type 7 |
|
Micropenis, Gonadal dysgenesis, Absent penis, Optic atrophy, Ambiguous genitalia, Abnormal scrota... |
ORPHA:284339 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Cardiomegaly |
ORPHA:2463 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
| Ogden Syndrome |
|
Hydrocele testis, Bicuspid aortic valve, Secundum atrial septal defect, Atrial septal defect, Enl... |
OMIM:300855 |
| Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Splenomegaly, Enlarged kidney, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:252500 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatosplenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:618278 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Aplasia of the uterus, Aplasia of the vagina, Urethral atresia, Absent external genitalia |
OMIM:271520 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Double outlet right ventricle, Cardiac total anomalous pulmonary venous connection, Atrial septal... |
ORPHA:99125 |
| Bohring-Opitz Syndrome |
|
Optic atrophy, Abnormal cardiac septum morphology, Cardiomegaly |
ORPHA:97297 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Urogenital sinus anomaly, Precocious puberty in females, Ambiguous genitalia, female, Abnormal ex... |
ORPHA:90794 |
| Exstrophy-Epispadias Complex |
|
Cystocele, Bifid scrotum, Bifid uterus, Absent penis, Bifid penis, Penoscrotal transposition, Epi... |
ORPHA:322 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly |
ORPHA:91387 |
| Okamoto Syndrome |
|
Abnormal mitral valve morphology, Aortic valve stenosis, Primum atrial septal defect, Splenomegal... |
ORPHA:2729 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Atrial septal defect, Atrioventricular canal defect, Hepatosplenomegaly, Tetralogy of Fallot, Ven... |
OMIM:274000 |
| Yunis-Varon Syndrome |
|
Atrial septal defect, Micropenis, Hypospadias, Tetralogy of Fallot, Ventricular septal defect, Cl... |
ORPHA:3472 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly |
ORPHA:365 |
| Abetalipoproteinemia |
|
Hepatomegaly, Cardiomegaly |
ORPHA:14 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Aplasia of the uterus, Aplasia of the vagina, Optic nerve hypoplasia |
ORPHA:457284 |
| Chromosome 17Q12 Deletion Syndrome |
|
Ovarian cyst, Unicornuate uterus, Urethral stenosis, Aplasia of the uterus, Aplasia of the vagina... |
OMIM:614527 |
| Aicardi-Goutières Syndrome |
|
Hepatosplenomegaly, Hypertrophic cardiomyopathy, Cardiomegaly, Micropenis |
ORPHA:51 |
| Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Right ventricular cardiomyopathy, Splenomegaly, Restrictive cardiomyopathy, Endocar... |
ORPHA:75565 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Splenomegaly, Enlarged kidney, Visceromegaly, Gonadoblastoma, Cryptorchidism, Hyper... |
ORPHA:116 |
| Williams Syndrome |
|
Abnormal cardiac septum morphology, Bicuspid aortic valve, Precocious puberty, Atrial septal defe... |
ORPHA:904 |
| Liver Disease, Severe Congenital |
|
Hydrocele testis, Atrial septal defect, Hepatomegaly, Splenomegaly, Hypospadias, Ventricular sept... |
OMIM:619991 |
| Phocomelia, Schinzel Type |
|
Aplasia of the uterus, Cryptorchidism, Hypoplasia of penis |
ORPHA:2879 |
| Townes-Brocks Syndrome 1 |
|
Atrial septal defect, Bifid scrotum, Hypospadias, Bifid uterus, Rectoperineal fistula, Tetralogy ... |
OMIM:107480 |
| Hydrolethalus Syndrome 1 |
|
Abnormal vagina morphology, Hypospadias, Bifid uterus, Ventricular septal defect, Complete atriov... |
OMIM:236680 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Epididymitis, Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:256040 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Bifid uterus, Abnormal reproductive system morphology |
ORPHA:1521 |
| Neu-Laxova Syndrome 1 |
|
Bifid uterus, Ventricular septal defect, Patent foramen ovale, Transposition of the great arterie... |
OMIM:256520 |
| Fanconi Anemia, Complementation Group L |
|
Aplasia of the uterus, Micropenis |
OMIM:614083 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Uterine prolapse, Uterine rupture, Cystocele, Mitral valve prolapse, Cervical insufficiency, Cryp... |
OMIM:130050 |
| Coffin-Siris Syndrome 1 |
|
Atrial septal defect, Hypospadias, Tetralogy of Fallot, Ventricular septal defect, Clitoral hyper... |
OMIM:135900 |
| Limb-Mammary Syndrome |
|
Aplasia of the uterus, Aplasia of the ovary |
ORPHA:69085 |
| Wolf-Hirschhorn Syndrome |
|
Precocious puberty, Atrial septal defect, Hypospadias, Ventricular septal defect, Aplasia of the ... |
OMIM:194190 |
| Singleton-Merten Syndrome 1 |
|
Aortic valve calcification, Aortic valve stenosis, Mitral valve calcification, Subvalvular aortic... |
OMIM:182250 |
| Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Pericardial effusion, Myocardial calcification, Cardiomegaly |
ORPHA:51608 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Anteriorly displaced genitalia, Hypospadias, Aplasia of the uterus, Cryptorchidism, Small scrotum |
OMIM:276820 |
| Vascular Ehlers-Danlos Syndrome |
|
Uterine prolapse, Cystocele, Uterine rupture, Hypospadias, Mitral valve prolapse, Abnormal heart ... |
ORPHA:286 |
| Pallister-Killian Syndrome |
|
Labial hypoplasia, Aortic valve stenosis, Atrial septal defect, Hypospadias, Ventricular septal d... |
OMIM:601803 |
| Norrie Disease |
|
Optic atrophy, Cryptorchidism, Uterine rupture |
ORPHA:649 |
| Loeys-Dietz Syndrome |
|
Uterine rupture |
ORPHA:60030 |
