Cephalin Lipidosis |
|
Abnormality of the spleen |
OMIM:212800 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
Reticuloendotheliosis, X-Linked |
|
Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly |
OMIM:312500 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormal lymph node morphology |
OMIM:136580 |
Cardiomyopathy, Dilated, 1I |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Red... |
OMIM:604765 |
46,Xy Sex Reversal 3 |
|
Ambiguous genitalia, Sex reversal, Penoscrotal hypospadias, Elevated circulating luteinizing horm... |
OMIM:612965 |
Ovarian Dysgenesis 7 |
|
Hypoplasia of the uterus |
OMIM:618117 |
Ovarian Dysgenesis 6 |
|
Hypergonadotropic hypogonadism, Hypoplasia of the uterus |
OMIM:618078 |
Satoyoshi Syndrome |
|
Genu varum, Tapered finger, Abnormality of the humerus, Abnormality of the ovary, Abnormality of ... |
ORPHA:3130 |
Immunodeficiency 75 With Lymphoproliferation |
|
Lymphadenopathy, Follicular hyperplasia, Decreased proportion of class-switched memory B cells, H... |
OMIM:619126 |
Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus |
OMIM:608996 |
46,Xx Testicular Disorder Of Sex Development |
|
Male hypogonadism, Ambiguous genitalia, Polycystic ovaries, Decreased testicular size |
ORPHA:393 |
Syndactyly Type 4 |
|
Triphalangeal thumb, Camptodactyly of finger, Short tibia, Foot polydactyly, Toe syndactyly, Hand... |
ORPHA:93405 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Bicornuate uterus, Azoospermia, Unilateral renal agenesis, Ectopic kidney, Abnormal rib morpholog... |
OMIM:601076 |
Gonadoblastoma |
|
Ambiguous genitalia, Gonadal dysgenesis with female appearance, male, Gonadal calcification, Abno... |
ORPHA:206484 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Genu varum, Metaphyseal irregularity, Short lower limbs, Femoral bowing, Flared metaphysis, Flatt... |
ORPHA:93356 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Metaphyseal dysplasia, Genu varum, Short foot, Broad tibial metaphyses, Short femoral neck, Short... |
ORPHA:2502 |
Premature Ovarian Failure 7 |
|
Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Elevated circulating follicle... |
OMIM:612964 |
Ovarian Dysgenesis 2 |
|
Streak ovary, Hypergonadotropic hypogonadism, Hypoplasia of the uterus |
OMIM:300510 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Gonadoblastoma, Abnormality of female external genitalia, Male hypogonadism, Increased circulatin... |
ORPHA:168563 |
46,Xy Sex Reversal 7 |
|
Abnormal epididymis morphology, Gonadoblastoma, Gonadal dysgenesis, male, Sex reversal, Hypoplasi... |
OMIM:233420 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Decreased testicular size, Hypoplasia of the ovary, Cryptorchidism, Hypogonadotropic hypogonadism... |
OMIM:614841 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Decreased testicular size, Abnormality of the ovary, Hypogonadism |
ORPHA:1875 |
Diethylstilbestrol Syndrome |
|
Abnormal testis morphology, Vaginal neoplasm, Epididymal cyst, Abnormality of the uterus, Hypospa... |
ORPHA:1916 |
Blount Disease |
|
Abnormal tibial metaphysis morphology, Abnormality of the proximal tibial epiphysis, Tibial bowing |
ORPHA:2768 |
Perrault Syndrome 3 |
|
Streak ovary, Elevated circulating luteinizing hormone level, Hypergonadotropic hypogonadism, Ele... |
OMIM:614129 |
Testicular Agenesis |
|
Urogenital sinus anomaly, Ambiguous genitalia, Absent external genitalia, Urethrovaginal fistula,... |
ORPHA:325124 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Impaired myocardial contractility, Left ventricular diastolic dysfunction, Tricuspid regurgitatio... |
OMIM:618052 |
Perrault Syndrome 6 |
|
Streak ovary, Hypoplasia of the uterus |
OMIM:617565 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly, Microcytic anemia, Recurrent tonsillitis |
OMIM:618852 |
46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome |
|
Increased size of the clitoris, Ambiguous genitalia, female, Abnormality of the ovary, Deformed h... |
ORPHA:2975 |
Ovarian Dysgenesis 5 |
|
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... |
OMIM:617690 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardiomyopathy, Hypo... |
OMIM:620135 |
Premature Ovarian Failure 13 |
|
Elevated circulating follicle stimulating hormone level, Hypoplasia of the uterus |
OMIM:617442 |
Premature Ovarian Failure 6 |
|
Streak ovary, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimu... |
OMIM:612310 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Precocious puberty, Aplasia of the phalanges of the 3rd toe, Dilated cardiomyopathy, Polycystic o... |
ORPHA:2229 |
Premature Ovarian Failure 18 |
|
Hypoplasia of the ovary, Elevated circulating follicle stimulating hormone level, Elevated circul... |
OMIM:619203 |
Mast Cell Sarcoma |
|
Mastocytosis, Lymphadenopathy, Mediastinal lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:66661 |
Acromesomelic Dysplasia 3 |
|
Aplasia of the proximal phalanx of the 2nd finger, Short phalanx of finger, Short toe, Short femo... |
OMIM:609441 |
Ovarian Dysgenesis 9 |
|
Hypoplasia of the ovary, Elevated circulating follicle stimulating hormone level, Elevated circul... |
OMIM:619665 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Aplasia of the vagina, Hypoplasia of the uterus |
OMIM:277000 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Micropenis... |
OMIM:614837 |
Satoyoshi Syndrome |
|
Osteolytic defects of the phalanges of the hand, Genu valgum, Short metacarpal, Brachydactyly, Sh... |
OMIM:600705 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Short tibia, Foot oligodactyly, Hand oligodactyly, Syndactyly, Fibular aplasia, Tibial bowing |
OMIM:246570 |
Testicular Regression Syndrome |
|
Ambiguous genitalia, Decreased testicular size, Abnormal male internal genitalia morphology, Hypo... |
ORPHA:983 |
Seckel Syndrome 7 |
|
Abnormal carpal morphology, Short middle phalanx of the 5th finger, Hip dysplasia, Clinodactyly o... |
OMIM:614851 |
46,Xx Sex Reversal 2 |
|
Sex reversal, Bifid scrotum, Hypoplasia of the vagina, True hermaphroditism, Azoospermia, Ovotest... |
OMIM:278850 |
Rudiger Syndrome |
|
Ureterovesical stenosis, Bicornuate uterus, Short digit, Ovarian cyst, Micropenis |
OMIM:268650 |
Kimura Disease |
|
Lymphadenopathy, Follicular hyperplasia, Eosinophilia |
ORPHA:482 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Macroorchidism |
OMIM:300886 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short phalanx of finger, Flared iliac wing, Irregular tarsal bones, Narrow greater sciatic notch,... |
OMIM:250220 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Broad tibial metaphyses, Broad femoral head, Fibular bowing, Exostoses of the radius, Hypoplasia ... |
ORPHA:85188 |
Acromesomelic Dysplasia 2C |
|
Short tibia, Hypoplasia of the radius, Radial bowing, Cuboidal metacarpal, Hip dislocation, Hypop... |
OMIM:201250 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Short phalanx of finger, Coxa valga, Flared iliac wing, Narrow pelvis bone, Short palm, Prominent... |
OMIM:300106 |
Tetragametic Chimerism |
|
Abnormality of the scrotum, Ambiguous genitalia, Abnormal testis morphology, Bifid scrotum, Gonad... |
ORPHA:199310 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Triphalangeal thumb, Short tibia, Absent tibia, Preaxial polydactyly, Fibular duplication |
OMIM:188740 |
46,Xx Ovotesticular Disorder Of Sex Development |
|
Urogenital sinus anomaly, Ambiguous genitalia, Bifid scrotum, Abnormal male internal genitalia mo... |
ORPHA:2138 |
Weismann-Netter Syndrome |
|
Abnormality of the humerus, Tibial bowing, Femoral bowing, Abnormal morphology of ulna, Abnormali... |
ORPHA:3344 |
46,Xy Complete Gonadal Dysgenesis |
|
Hypogonadotropic hypogonadism, Polycystic ovaries, Male pseudohermaphroditism, Testicular dysgenesis |
ORPHA:242 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Hypoplasia of the uterus |
OMIM:614842 |
Osebold-Remondini Syndrome |
|
Short tibia, Short toe, Short phalanx of finger, Hypoplasia of the radius, Carpal synostosis, Hyp... |
OMIM:112910 |
Müllerian Aplasia And Hyperandrogenism |
|
Abnormal vagina morphology, Abnormality of the ovary, Hypoplasia of the uterus, Brachydactyly |
ORPHA:247768 |
46,Xy Sex Reversal 11 |
|
Urogenital sinus anomaly, Aplasia of the uterus, Elevated circulating follicle stimulating hormon... |
OMIM:273250 |
Isolated Right Ventricular Hypoplasia |
|
Patent foramen ovale, Bidirectional shunt, Right bundle branch block, Systolic heart murmur, Abno... |
ORPHA:439 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally low T cell receptor excis... |
OMIM:602450 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Iliac crest serration, Myocarditis, Short metacarpal, Long fibula, Metaphyseal chondrodysplasia, ... |
ORPHA:93317 |
Fixed Subaortic Stenosis |
|
Atrioventricular canal defect, Systolic heart murmur, Bacterial endocarditis, Left ventricular ou... |
ORPHA:3092 |
Thrombocytopenia-Absent Radius Syndrome |
|
Genu varum, Coxa valga, Finger syndactyly, Abnormal cardiac septum morphology, Tibial torsion, Hi... |
ORPHA:3320 |
Léri-Weill Dyschondrosteosis |
|
Short tibia, Abnormal carpal morphology, Abnormal metaphysis morphology, Genu valgum, Abnormality... |
ORPHA:240 |
Acheiropodia |
|
Aplasia of the ulna, Upper limb phocomelia, Absent radius, Abnormal metaphysis morphology, Abnorm... |
ORPHA:931 |
Amed Syndrome, Digenic |
|
Long thumb, Hypoplasia of the uterus |
OMIM:619151 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Syndactyly, Cardiomegaly |
OMIM:613576 |
Coronary Arterial Fistula |
|
Pulmonary arterial hypertension, Patent foramen ovale, Systolic heart murmur, Cardiomegaly, Bacte... |
ORPHA:2041 |
Leri-Weill Dyschondrosteosis |
|
Short tibia, Short toe, Short 4th metacarpal, Coxa valga, Abnormal carpal morphology, Hypoplasia ... |
OMIM:127300 |
Meckel Syndrome 12 |
|
Ureteral hypoplasia, Vaginal atresia, Renal hypoplasia, Rocker bottom foot, Hypoplasia of the uterus |
OMIM:616258 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Urinary incontinence, Urinary retention, Dysuria, Abnormality of the ovary, Polycystic ovaries, A... |
ORPHA:2795 |
Perrault Syndrome 4 |
|
Bicornuate uterus, Increased circulating gonadotropin level, Hypoplasia of the ovary, Hypoplasia ... |
OMIM:615300 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Female hypogonadism, Decreased testicular size, Camptodactyly, Azoospermia, Non-obstructive azoos... |
ORPHA:432 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
Fraser-Like Syndrome |
|
Overlapping toe, Ovarian cyst, Contracture of the proximal interphalangeal joint of the 2nd finger |
OMIM:229230 |
Attrv122I Amyloidosis |
|
Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Abnormal EKG, Left ventri... |
ORPHA:85451 |
46,Xy Sex Reversal 4 |
|
Hydronephrosis, Sex reversal, Hypoplastic labia majora, Agonadism, Ureteropelvic junction obstruc... |
OMIM:154230 |
Leydig Cell Hypoplasia |
|
Female hypogonadism, Testicular gonadoblastoma, Ambiguous genitalia, Hyoplasia of the Leydig cell... |
ORPHA:755 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Sudden cardiac death, Ventricular hypertrophy, Myofiber disarray, Right bundle branch block, Redu... |
OMIM:115197 |
Immunodeficiency 32A |
|
Lymphadenitis, Lymphadenopathy |
OMIM:614893 |
Osteosclerosis With Ichthyosis And Fractures |
|
Tibial bowing, Cortical thickening of long bone diaphyses, Femoral bowing |
OMIM:166740 |
Granulomatous Slack Skin |
|
Abnormal lymph node morphology, Nephrocalcinosis, Acute kidney injury |
ORPHA:33111 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Reduced left ventricular ejection fraction, Sinus tachycardia, Cardiogenic shock, Congestive hear... |
OMIM:614473 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Genu varum, Metaphyseal cupping, Coxa vara, Radial bowing, Flared iliac wing, Ulnar bowing, Femor... |
OMIM:602111 |
Microphthalmia, Syndromic 9 |
|
Truncus arteriosus, Ventricular septal defect, Bicornuate uterus, Hypoplastic left atrium, Atrial... |
OMIM:601186 |
Estrogen Resistance Syndrome |
|
Delayed epiphyseal ossification, Enlarged polycystic ovaries, Increased circulating gonadotropin ... |
ORPHA:785 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Nephrotic syndrome, Left ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Cardiomyopathy |
OMIM:617713 |
Ovarian Fibroma |
|
Abnormality of the ovary, Ovarian fibroma, Gonadal calcification |
ORPHA:314473 |
Attrv30M Amyloidosis |
|
Cardiomegaly, Nephropathy, Abnormal renal physiology, Cardiomyopathy |
ORPHA:85447 |
Estrogen Resistance |
|
Polycystic ovaries, Breast aplasia, Hypoplasia of the uterus |
OMIM:615363 |
Fish-Eye Disease |
|
Lymphadenopathy, Splenomegaly, Hepatomegaly |
ORPHA:79292 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged kidney, Polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged ... |
ORPHA:90301 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hydronephrosis, Fractured radius, Ventricular septal defect, Short ribs, Multiple rib fractures, ... |
OMIM:616897 |
Timothy Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Syndactyly, Cardiomegaly, Tetralogy of Fallot, C... |
OMIM:601005 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Ureteral agenesis, Vaginal atresia, Renal hypoplasia, Hypoplasia of the uterus |
OMIM:617914 |
Cantu Syndrome |
|
Broad first metatarsal, Cardiomegaly, Coxa valga, Congenital hypertrophy of left ventricle, Erlen... |
OMIM:239850 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Ambiguous genitalia, female, Hypoplasia of the vagina, Decreased testicular size, Precocious pube... |
OMIM:202010 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Left ventricular outflow tract obstruction, Ventricular septal defect, Abnormal mitral valve morp... |
ORPHA:860 |
Familial Atrial Myxoma |
|
Bacterial endocarditis, Heart murmur, Pulmonic valve myxoma, Congestive heart failure, Cardiac my... |
ORPHA:615 |
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Enlarged polycystic ovaries, Hypoplasia of the vagina, Female external genitalia in individual wi... |
ORPHA:90796 |
Hydatidiform Mole |
|
Enlarged uterus |
ORPHA:99927 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
Ovarian Fibrothecoma |
|
Abnormal endometrium morphology, Abnormality of the ovary, Ovarian fibroma, Gonadal calcification |
ORPHA:314478 |
Neurooculocardiogenitourinary Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Bilateral cryptorchidism, Atrial septal defect, ... |
OMIM:618652 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Abnormal lymph node morphology, Anemia, Hepatosplenomegaly, Leukocytosis, Extramedullary hematopo... |
OMIM:612840 |
Infantile Sialic Acid Storage Disease |
|
Metaphyseal irregularity, Nephrotic syndrome, Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:269920 |
Mucopolysaccharidosis, Type Iiib |
|
Thickened ribs, Asymmetric septal hypertrophy, Hepatomegaly, Cardiomegaly, Splenomegaly, Heparan ... |
OMIM:252920 |
Acheiropody |
|
Short tibia, Aplasia of the phalanges of the hand, Absent toe, Aplasia of metacarpal bones, Aplas... |
OMIM:200500 |
Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Hand monodactyly, Absent tibia, Bifid femur, Aplasia of the ulna, Split hand, Foot monodactyly |
OMIM:228250 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Iliac crest serration, Metaphyseal cupping, Short long bone, Short ribs, Hypoplastic ischia, Card... |
OMIM:613320 |
Popliteal Pterygium Syndrome |
|
Bifid scrotum, Cutaneous finger syndactyly, Hypoplasia of the vagina, Hypoplastic labia majora, C... |
OMIM:119500 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Hypoplasia of the thymus, T lymphocytopenia, B lymphocytopenia... |
OMIM:619313 |
Neuraminidase Deficiency |
|
Urinary excretion of sialylated oligosaccharides, Epiphyseal stippling, Increased urinary O-linke... |
OMIM:256550 |
Hemochromatosis, Type 1 |
|
Azoospermia, Testicular atrophy, Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splen... |
OMIM:235200 |
Complete Atrioventricular Septal Defect |
|
Systolic heart murmur, Displacement of the papillary muscles, Hepatomegaly, Abnormal P wave, Thir... |
ORPHA:1329 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Reduced natural killer cell count, Decreased proportion of CD3-positive T cells, Jaundice, Decrea... |
ORPHA:276 |
Renal And Mullerian Duct Hypoplasia |
|
Anteriorly displaced urethral meatus, Hydrocele testis, Aplasia of the uterus, Horseshoe kidney, ... |
OMIM:266810 |
Mullerian Aplasia And Hyperandrogenism |
|
Aplasia of the vagina, Unilateral renal agenesis, Aplasia of the fallopian tube, Aplasia of the u... |
OMIM:158330 |
Partial Androgen Insensitivity Syndrome |
|
Urogenital sinus anomaly, Ambiguous genitalia, Aplasia of the ovary, Bifid scrotum, Fused labia m... |
ORPHA:90797 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Perimembranous ventricular septal defect |
OMIM:619170 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Bifid distal phalanx of the thumb, Cutaneous finger syndactyly, Hip dysplasia, Hypoplastic labia ... |
OMIM:618419 |
Mulibrey Nanism |
|
Pericardial constriction, Myocardial fibrosis, Thickened cortex of long bones, Hepatomegaly, Card... |
OMIM:253250 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Macroorchidism, Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, ... |
ORPHA:324410 |
Complete Androgen Insensitivity Syndrome |
|
Bilateral cryptorchidism, Aplasia of the uterus, Abnormal uterine cervix morphology, Aplasia/Hypo... |
ORPHA:99429 |
Cirrhotic Cardiomyopathy |
|
Elevated pulmonary artery pressure, Left ventricular diastolic dysfunction, Third heart sound, Re... |
ORPHA:57777 |
Renal Cysts And Diabetes Syndrome |
|
Pancreatic hypoplasia, Atretic vas deferens, Bicornuate uterus, Stage 5 chronic kidney disease, G... |
OMIM:137920 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Histiocytoid cardiomyopathy, Ventricular septal defect, Atrial septal defect, Hypospadias, Hypopl... |
OMIM:309801 |
Stormorken Syndrome |
|
Asplenia, Anemia, Howell-Jolly bodies, Hematuria, Thrombocytopenia, Hypoplastic spleen |
OMIM:185070 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Hypoplastic spleen |
ORPHA:89844 |
Congenital Toxoplasmosis |
|
Cardiomegaly, Hepatomegaly |
ORPHA:858 |
Burkitt Lymphoma |
|
Abnormality of the ovary |
ORPHA:543 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly |
OMIM:600649 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Short distal phalanx of finger, Clinodactyly, Decreased response to growth hormone stimulation te... |
OMIM:615866 |
Gracile Bone Dysplasia |
|
Asplenia, Hypoplastic spleen, Micropenis |
OMIM:602361 |
Aromatase Deficiency |
|
Female pseudohermaphroditism, Ovarian cyst, Hypergonadotropic hypogonadism |
OMIM:613546 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Short phalanx of finger, Hip subluxation, Triangular shaped distal phalanges of the hand, Short m... |
OMIM:271665 |
Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Metaphyseal irregularity, Advanced ossification of carpal bones, Short femoral neck, Metaphyseal ... |
OMIM:610442 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Camptodactyly of finger, Hallux valgus, Camptodactyly, Hepatosplenomegaly, Hepatomegaly, Splenome... |
OMIM:602782 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Cardiomegaly, Hepatomegaly |
OMIM:619064 |
Purine Nucleoside Phosphorylase Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Pure red cell aplasia, Lymphopenia, Autoimm... |
OMIM:613179 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Complete heart block with narrow QRS complexes, Abnormal cardiac ventricular function, Paroxysmal... |
ORPHA:1677 |
Lethal Congenital Contracture Syndrome 10 |
|
Hypoplasia of the thymus, Ventricular septal defect, Short long bone, Femoral bowing, Adducted th... |
OMIM:617022 |
Congenital Tricuspid Valve Dysplasia |
|
Patent foramen ovale, Cardiomegaly, Pericardial effusion, Abnormal tricuspid valve leaflet morpho... |
ORPHA:555874 |
Danon Disease |
|
Second degree atrioventricular block, Increased QRS voltage, Severely reduced left ventricular ej... |
OMIM:300257 |
Carnitine Deficiency, Systemic Primary |
|
Endocardial fibroelastosis, Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Hepatomegaly, Car... |
OMIM:212140 |
Naxos Disease |
|
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Abnormal morph... |
OMIM:601214 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Short tibia, Short toe, Short phalanx of finger, Absent toe, Short metacarpal, Absent tibia, Camp... |
OMIM:612576 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614702 |
Cardiac-Urogenital Syndrome |
|
2-3 toe syndactyly, Ambiguous genitalia, Cor triatrium sinister, Pericardial effusion, Patent ura... |
OMIM:618280 |
Bardet-Biedl Syndrome 1 |
|
Hypogonadism, Foot polydactyly, Decreased testicular size, Abnormality of the ovary, Left ventric... |
OMIM:209900 |
Cantú Syndrome |
|
Cardiomegaly, Coxa valga, Finger syndactyly, Hypertrophic cardiomyopathy, Short hallux, Short dis... |
ORPHA:1517 |
Lumbar Syndrome |
|
Vesicoureteral reflux, Ambiguous genitalia, Bifid scrotum, Hypoplastic labia majora, Hypospadias,... |
ORPHA:83628 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Nephrotic syndrome, Hematuria, Distal renal tubular acidosis, Proximal renal tubular acidosis, Se... |
OMIM:146255 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Vesicoureteral reflux, Polycystic kidney dysplasia, Unilateral renal agenesis, Vaginal atresia, A... |
ORPHA:2237 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Hydronephrosis, Urethral atresia, Short ribs, Missing ribs, Absent external genitalia, Aplasia of... |
OMIM:271520 |
Refsum Disease, Classic |
|
Short fourth metatarsal, Cardiomegaly, Abnormal renal physiology, Cardiomyopathy |
OMIM:266500 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Ambiguous genitalia, Humeroradial synostosis, Narrow pelvis bone, Camptodactyly, Metatarsal synos... |
ORPHA:95699 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Testicular microlithiasis, Abnormal spermatogenesis, Azoospermia, Male hypogonadism, Abnormality ... |
OMIM:228300 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy |
OMIM:619051 |
Bent Bone Dysplasia Syndrome 2 |
|
Short tibia, Hypoplastic iliac wing, Short sternum, Hypoplastic acetabulae, Short 1st metacarpal,... |
OMIM:620076 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly, Oligosacchariduria |
ORPHA:3137 |
Lethal Acantholytic Erosive Disorder |
|
Impaired myocardial contractility, 2-3 finger syndactyly, 4-5 finger syndactyly, Camptodactyly of... |
ORPHA:158687 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Hypoplasia of the vagina, Unilateral renal agenesis, Ectopic kidney, Aplasia of the uterus, Horse... |
ORPHA:3109 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Bifid sternum |
OMIM:140850 |
Woodhouse-Sakati Syndrome |
|
Elevated circulating thyroid-stimulating hormone concentration, Decreased testicular size, Hypopl... |
OMIM:241080 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
11 pairs of ribs, Shoulder dislocation, Genu valgum, Patent foramen ovale, Hallux valgus, Spatula... |
OMIM:245600 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Abnormal metaphysis morphology, Long fibula |
ORPHA:935 |
Thrombocytopenia-Absent Radius Syndrome |
|
Short phalanx of finger, Atrioventricular canal defect, Absent thumb, Coxa valga, Hip dislocation... |
OMIM:274000 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Ambiguous genitalia, Humeroradial synostosis, Vesicovaginal fistula, Camptodactyly, Ovarian cyst,... |
OMIM:201750 |
Meige Disease |
|
Absence of lymph node germinal center, Lymph node hypoplasia |
ORPHA:90186 |
Hypoplasminogenemia |
|
Abnormal fallopian tube morphology, Abnormality of the ovary, Nephrolithiasis, Cervicitis |
ORPHA:722 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Testicular atrophy, Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Abno... |
ORPHA:465508 |
Woodhouse-Sakati Syndrome |
|
Abnormal spermatogenesis, Decreased response to growth hormone stimulation test, Hypogonadism, De... |
ORPHA:3464 |
Tropical Endomyocardial Fibrosis |
|
Systolic heart murmur, Restrictive cardiomyopathy, Coronary artery stenosis, Left ventricular dia... |
ORPHA:75565 |
Mogs-Cdg |
|
External genital hypoplasia, Left ventricular hypertrophy, Hydrocele testis, Atrial septal defect... |
ORPHA:79330 |
Aorta Coarctation |
|
Pulmonary arterial hypertension, Aortic valve atresia, Perimembranous ventricular septal defect, ... |
ORPHA:1457 |
Carnitine Palmitoyltransferase I Deficiency |
|
Cardiomegaly, Dicarboxylic aciduria, Renal tubular acidosis, Hepatomegaly |
OMIM:255120 |
Oeis Complex |
|
11 pairs of ribs, Absent scrotum, Vesicovaginal fistula, Ambiguous genitalia, female, Hydroureter... |
OMIM:258040 |
Familial Adenomatous Polyposis 4 |
|
Renal cyst, Ovarian cyst, Uterine leiomyoma |
OMIM:617100 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Cardiomegaly, Dicarboxylic aciduria, Hepatomegaly, Elevated urinary 3-hydroxybutyric acid |
ORPHA:42 |
Mirage Syndrome |
|
Leukopenia, Anemia, Microphallus, Lymphopenia, Hypospadias, Thrombocytopenia, Hypoplastic spleen |
OMIM:617053 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Increased circulating gonadotropin level, Hypoplasia of the uterus |
OMIM:110100 |
Heterotaxy, Visceral, 1, X-Linked |
|
Subvalvular aortic stenosis, Atrioventricular canal defect, Hepatomegaly, Right atrial isomerism,... |
OMIM:306955 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Precocious puberty in females, Increased urinary 11-deoxycorticosterone level, Adrenocorticotropi... |
ORPHA:90793 |
Leigh Syndrome With Nephrotic Syndrome |
|
Tubulointerstitial nephritis, Renal tubular acidosis, Nephrotic syndrome, Renal cyst, Cardiomegal... |
ORPHA:255249 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly |
OMIM:618838 |
Beck-Fahrner Syndrome |
|
Hip dysplasia, Cardiomegaly, Ventricular septal defect |
OMIM:618798 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Tapered toe, Tapered finger, Enlarged kidney, Polycystic kidney dysplasia, Long-chain dicarboxyli... |
OMIM:608836 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hypotension, Pericardial effusion, Enlarged kidney, T-wave inversion, ST segment depression, Cong... |
OMIM:261740 |
Phocomelia, Schinzel Type |
|
Foot oligodactyly, Humeroradial synostosis, Hypoplasia of the radius, Radial bowing, Hypoplasia o... |
ORPHA:2879 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Exercise-induced myoglobinuria, Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Hepatomegaly,... |
OMIM:201475 |
Townes-Brocks Syndrome 2 |
|
Vesicoureteral reflux, Crossed fused renal ectopia, Hypospadias, Bifid uterus, Rectovaginal fistula |
OMIM:617466 |
Peters-Plus Syndrome |
|
Hypoplastic labia majora, Square pelvis bone, Short palm, Hypoplasia of the uterus, Short toe, Ve... |
OMIM:261540 |
Developmental And Epileptic Encephalopathy 95 |
|
Cardiomegaly, Short 4th metacarpal, Short digit, Clinodactyly of the 5th finger, Short distal pha... |
OMIM:618143 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Urinary incontinence, Cardiomegaly, Cardiomyopathy |
OMIM:105210 |
Idiopathic Pulmonary Hemosiderosis |
|
Cardiomegaly, Glomerulonephritis, Hepatomegaly, Hepatosplenomegaly |
ORPHA:99931 |
Yunis-Varon Syndrome |
|
Aplasia of the 1st metacarpal, Absent thumb, Aplasia of the distal phalanges of the hand, Tapered... |
ORPHA:3472 |
Gaucher Disease, Type Iiic |
|
Splenomegaly, Mitral stenosis, Hepatomegaly, Cardiomegaly, Aortic valve calcification, Mitral val... |
OMIM:231005 |
Meckel Syndrome 14 |
|
Ambiguous genitalia, Polycystic kidney dysplasia, Postaxial foot polydactyly, Syndactyly, Aplasia... |
OMIM:619879 |
Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal concentration of acylcarnitine in the urine |
ORPHA:391428 |
Mucolipidosis Ii Alpha/Beta |
|
Hip subluxation, Splenomegaly, Cardiomegaly, Coxa valga, Bullet-shaped phalanges of the hand, Sho... |
OMIM:252500 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Hypoplastic labia majora, Thickened cortex of long bones, Postaxial hand polydactyly, Short stern... |
OMIM:269150 |
Craniofaciofrontodigital Syndrome |
|
Ventricular septal defect, Finger joint hypermobility, Pericardial effusion, Bicuspid aortic valv... |
ORPHA:363705 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Thin metatarsal cortices, Slender long bone, Thin metacarpal cortices, Arachnodactyly, Cardiomega... |
ORPHA:2463 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Humeroradial synostosis, Aplasia/hypoplasia of the femur, Hip dislocation, Phocomelia, Aplasia/Hy... |
OMIM:276820 |
Chromosome 17Q12 Deletion Syndrome |
|
Unicornuate uterus, Aplasia of the vagina, Upper limb undergrowth, Multicystic kidney dysplasia, ... |
OMIM:614527 |
Beckwith-Wiedemann Syndrome |
|
Vesicoureteral reflux, Gonadoblastoma, Renal cortical cysts, Pancreatic hyperplasia, Nephrocalcin... |
OMIM:130650 |
Peters Plus Syndrome |
|
Short toe, Hydronephrosis, Multicystic kidney dysplasia, Abnormal cardiac septum morphology, Toe ... |
ORPHA:709 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Abnormal urine potassium concentration, Urogenital sinus anomaly, Adrenocorticotropic hormone exc... |
ORPHA:168558 |
Sickle Cell Disease |
|
Hematuria, Hepatomegaly, Cholelithiasis, Cardiomegaly, Renal insufficiency, Splenomegaly |
OMIM:603903 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Abnormal urine potassium concentration, Urogenital sinus anomaly, Adrenocorticotropic hormone exc... |
ORPHA:289548 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Lacrimal gland aplasia, Polycystic ovaries, Elevated circulating follicle stimulating hormone lev... |
ORPHA:572333 |
Pseudo-Torch Syndrome 3 |
|
Acute kidney injury, Cardiomegaly, Proteinuria |
OMIM:618886 |
Pearson Syndrome |
|
Anemia, Abnormality of the liver, Renal insufficiency, Glycosuria, Macronodular cirrhosis, Reticu... |
ORPHA:699 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Tubulointerstitial nephritis, Polycystic kidney dysplasia, Cystic renal dysplasia, Dicarboxylic a... |
ORPHA:228308 |
Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
Townes-Brocks Syndrome 1 |
|
2-3 toe syndactyly, 2-4 finger syndactyly, Clinodactyly of the 5th toe, Metatarsal synostosis, Bi... |
OMIM:107480 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Precocious puberty, Ventricular septal defect, Labial hypertrophy, Hepatomegaly, Cryptorchidism, ... |
ORPHA:96191 |
Fucosidosis |
|
Coxa valga, Glycopeptiduria, Hepatomegaly, Oligosacchariduria, Cardiomegaly, Splenomegaly |
OMIM:230000 |
Agammaglobulinemia, X-Linked |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Enteroviral hepatitis, Hepatocellular carcinoma, Ly... |
OMIM:300755 |
Fucosidosis |
|
Cardiomegaly, Mucopolysacchariduria, Hepatomegaly |
ORPHA:349 |
Sandhoff Disease |
|
Urinary incontinence, Cardiomegaly, Hepatomegaly, Hepatosplenomegaly |
OMIM:268800 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomegaly, 3-Methylglutaconic aciduria, Cardiomyopathy |
OMIM:619259 |
Ulbright-Hodes Syndrome |
|
Short sternum, Abnormal external genitalia, Humeroradial synostosis, Short ribs, Short metacarpal... |
ORPHA:3404 |
Mucopolysaccharidosis Type 3 |
|
Genu valgum, Avascular necrosis of the capital femoral epiphysis, Abnormal mitral valve morpholog... |
ORPHA:581 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Oligosacchariduria, Hepatomegaly, Card... |
ORPHA:308552 |
Exstrophy-Epispadias Complex |
|
Vesicoureteral reflux, Urinary incontinence, Bladder exstrophy, Absent penis, Bifid scrotum, Peno... |
ORPHA:322 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Patent foramen ovale, Hallux valgus, Ventricular septal defect, Pineal cyst, Left ventricular non... |
OMIM:300967 |
Gaucher Disease, Perinatal Lethal |
|
Cardiomegaly, Splenomegaly, Hepatomegaly, Hepatosplenomegaly |
OMIM:608013 |
Congenital Disorder Of Glycosylation, Type It |
|
Ventricular septal defect, Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly, Hydronephrosis |
OMIM:614921 |
Limb-Mammary Syndrome |
|
Aplasia of the ovary, Toe syndactyly, 3-4 finger cutaneous syndactyly, Clinodactyly of the 5th fi... |
ORPHA:69085 |
Histiocytoid Cardiomyopathy |
|
Ventricular septal defect, Renal cyst, Polycystic ovaries, Hepatomegaly, Cardiomegaly |
ORPHA:137675 |
Truncus Arteriosus |
|
Hypoplasia of the thymus, Truncus arteriosus, Ventricular septal defect, Transposition of the gre... |
ORPHA:3384 |
Ogden Syndrome |
|
Metatarsus valgus, Patent foramen ovale, Ventricular septal defect, Perimembranous ventricular se... |
OMIM:300855 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Cardiomegaly, Dilated cardiomyopathy, Renal artery stenosis |
OMIM:208000 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Partial atrioventricular canal defect, Ventricular septal defect, Bicuspid aortic valve, Secundum... |
OMIM:620066 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hip dysplasia, Clinodactyly of the 5th finger, Unilateral renal agenesis, Broad hallux, Aplasia o... |
ORPHA:457284 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Cardiomegaly, Right ventricular hypertrophy, Pollakisuria |
ORPHA:268 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Short sternum, Short toe, Genu valgum, High urinary gonadotropin level, Short 4th metacarpal, Sho... |
ORPHA:99413 |
Turner Syndrome |
|
Short sternum, Short toe, Genu valgum, High urinary gonadotropin level, Short 4th metacarpal, Sho... |
ORPHA:881 |
Mosaic Monosomy X |
|
Short sternum, Short toe, Genu valgum, High urinary gonadotropin level, Short 4th metacarpal, Sho... |
ORPHA:99228 |
Monosomy X |
|
Short sternum, Short toe, Genu valgum, High urinary gonadotropin level, Short 4th metacarpal, Sho... |
ORPHA:99226 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Camptodactyly of finger, Finger swelling, Elevated circulating thyroid-stimulating hormone concen... |
OMIM:256040 |
Craniorachischisis |
|
Bifid sternum |
ORPHA:63260 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Urogenital sinus anomaly, Premature fusion of the radial epiphyseal plates, Ambiguous genitalia, ... |
ORPHA:90794 |
Coffin-Lowry Syndrome |
|
Coxa valga, Tapered finger, Short metacarpal, Hyperextensibility of the finger joints, Narrow ili... |
OMIM:303600 |
Glycogen Storage Disease Ii |
|
Urinary incontinence, Cardiomegaly, Splenomegaly, Hepatomegaly |
OMIM:232300 |
Williams Syndrome |
|
Precocious puberty, Hallux valgus, Abnormal cardiac septum morphology, Hypertrophic cardiomyopath... |
ORPHA:904 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Unilateral brachydactyly, Supernumerary nipple, Syndactyly, Bifid uterus, Abnormal reproductive s... |
ORPHA:1521 |
Beckwith-Wiedemann Syndrome |
|
Vesicoureteral reflux, Gonadoblastoma, Congenital megaureter, Enlarged kidney, Hypertrophic cardi... |
ORPHA:116 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Single ventricle, Atrial septal defect, Abnormal heart morphology, Par... |
ORPHA:95430 |
Bohring-Opitz Syndrome |
|
Urinary retention, Abnormal cardiac septum morphology, Annular pancreas, Cardiomegaly, Metacarpop... |
ORPHA:97297 |
Hydrolethalus Syndrome 1 |
|
Upper limb undergrowth, Preaxial hand polydactyly, Ventricular septal defect, Proximal tibial hyp... |
OMIM:236680 |
Okamoto Syndrome |
|
Polydactyly, Urinary incontinence, Ventricular septal defect, Abnormal mitral valve morphology, H... |
ORPHA:2729 |
Wolf-Hirschhorn Syndrome |
|
Preaxial hand polydactyly, Precocious puberty, Ventricular septal defect, Pseudoepiphyses of the ... |
OMIM:194190 |
Absence Of The Pulmonary Artery |
|
Patent foramen ovale, Truncus arteriosus, Abnormal cardiac septum morphology, Atrial septal defec... |
ORPHA:980 |
Fanconi Anemia, Complementation Group L |
|
Absent thumb, Unilateral renal agenesis, Aplasia of the uterus, Absent radius, Renal hypoplasia, ... |
OMIM:614083 |
Coffin-Siris Syndrome 1 |
|
Coxa valga, Dislocated radial head, Aplasia/Hypoplasia of the patella, Short sternum, Ventricular... |
OMIM:135900 |
Singleton-Merten Syndrome 1 |
|
Osteolytic defects of the phalanges of the hand, Hip subluxation, Genu valgum, Subvalvular aortic... |
OMIM:182250 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Cardiomegaly, Bicuspid aortic valve, Arachnodactyly |
ORPHA:91387 |
Pontocerebellar Hypoplasia Type 7 |
|
Ambiguous genitalia, Absent penis, Microphallus, Aplasia of the uterus, Gonadal dysgenesis, Abnor... |
ORPHA:284339 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Supracardiac total anomalous pulmonary venous connection, Hepatomegaly, Tricuspid regurgitation, ... |
ORPHA:99125 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Cardiomegaly, Hepatomegaly, Hepatosplenomegaly |
OMIM:618278 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Oligosacchariduria, Hepatomegaly, Card... |
ORPHA:365 |
Liver Disease, Severe Congenital |
|
Subvalvular aortic stenosis, Patent foramen ovale, Aminoaciduria, Dilatation of the ventricular c... |
OMIM:619991 |
Neu-Laxova Syndrome 1 |
|
Patent foramen ovale, Finger syndactyly, Ventricular septal defect, Toe syndactyly, Clinodactyly,... |
OMIM:256520 |
Aicardi-Goutières Syndrome |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Micropenis, Hepatosplenomegaly |
ORPHA:51 |
Abetalipoproteinemia |
|
Cardiomegaly, Hepatomegaly |
ORPHA:14 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Osteolytic defects of the phalanges of the hand, Foot acroosteolysis, Cervical insufficiency, Fin... |
OMIM:130050 |
Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Pancreatic calcification, Stippled calcification of the shoulder, Perica... |
ORPHA:51608 |
Pallister-Killian Syndrome |
|
Short phalanx of finger, Hip dislocation, Hypoplastic labia majora, Supernumerary nipple, Hypertr... |
OMIM:601803 |
Loeys-Dietz Syndrome |
|
Camptodactyly of finger, Uterine rupture, Arachnodactyly |
ORPHA:60030 |
Vascular Ehlers-Danlos Syndrome |
|
Mitral valve prolapse, Uterine rupture, Bladder diverticulum, Congenital hip dislocation, Hypospa... |
ORPHA:286 |