| Lipedema |
|
Edema |
OMIM:614103 |
| Testicular Microlithiasis |
|
Testicular microlithiasis |
OMIM:610441 |
| Angioedema, Hereditary, 6 |
|
Facial edema, Angioedema, Edema of the dorsum of hands |
OMIM:619363 |
| Lymphatic Malformation 11 |
|
Pedal edema, Lymphedema |
OMIM:619401 |
| Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
| Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia, Hypocalcemia |
DECIPHER:16 |
| Testes, Rudimentary |
|
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia |
OMIM:273150 |
| Hypoparathyroidism, Familial Isolated, 2 |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Decreased circulating parathyroid hormone... |
OMIM:618883 |
| Spermatogenic Failure 32 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:618115 |
| Spermatogenic Failure 71 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:619831 |
| Kaposi Sarcoma, Susceptibility To |
|
Edema |
OMIM:148000 |
| Lymphatic Malformation 2 |
|
Lymphedema |
OMIM:611944 |
| Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
| Pseudohypoparathyroidism, Type Ii |
|
Hypocalcemia, Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Hyperphos... |
OMIM:203330 |
| Hypocalcemia, Autosomal Dominant 2 |
|
Abnormal blood phosphate concentration, Hypocalcemia |
OMIM:615361 |
| Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
| Angioedema, Hereditary, 5 |
|
Facial edema, Angioedema, Edema of the dorsum of hands |
OMIM:619361 |
| Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
| Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
| Beemer Lethal Malformation Syndrome |
|
Ambiguous genitalia, Thrombocytopenia |
OMIM:209970 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility, Parathyroid agenesis, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Congenit... |
ORPHA:2239 |
| Immune Thrombocytopenia |
|
Thrombocytopenia |
OMIM:188030 |
| Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
| Thrombocytopenia 2 |
|
Leukocytosis, Thrombocytopenia |
OMIM:188000 |
| Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
| Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... |
ORPHA:399805 |
| Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Primary amenorrhe... |
OMIM:614840 |
| Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
| Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Red... |
OMIM:619130 |
| Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy |
OMIM:241100 |
| Amegakaryocytic Thrombocytopenia, Congenital, 1 |
|
Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia |
OMIM:604498 |
| Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Impaired platelet aggregation, Macrothrombocytopenia, Menorrhagia, Thrombocytopenia |
OMIM:124900 |
| Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Edema, Pulmonary edema |
OMIM:178400 |
| Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Abnormality of the hand, Frontal encephalocele, Abnormality of the upper limb, Clinodactyly of th... |
ORPHA:521308 |
| Hypoparathyroidism, Familial Isolated, 1 |
|
Hypoparathyroidism, Decreased circulating parathyroid hormone level, Hyperphosphatemia, Hypocalce... |
OMIM:146200 |
| Eng-Strom Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Short stature, Abnormal cardiac septum morpho... |
ORPHA:1937 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome |
|
Lymphedema |
ORPHA:69061 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia |
ORPHA:231393 |
| Pseudohypoparathyroidism, Type Ib |
|
Hypocalcemia, Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Hyperphos... |
OMIM:603233 |
| Edema, Familial Idiopathic, Prepubertal |
|
Edema |
OMIM:129840 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Thrombocytopenia, Macrothrombocytopenia, Menorrhagia, Anemia |
OMIM:616176 |
| Hyperparathyroidism 1 |
|
Primary hyperparathyroidism, Hypercalcemia |
OMIM:145000 |
| Microcephaly-Cardiomyopathy Syndrome |
|
Short stature, Ventricular septal defect, Sandal gap, Dilated cardiomyopathy, Cognitive impairmen... |
ORPHA:2515 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... |
OMIM:619271 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Primary amenorrhea, Hepatosplenomegaly, Hy... |
OMIM:612526 |
| Pseudohypoparathyroidism Type 2 |
|
Calcinosis, Pseudohypoparathyroidism, Elevated circulating parathyroid hormone level, Hyperphosph... |
ORPHA:94090 |
| Progressive Familial Intrahepatic Cholestasis |
|
Splenomegaly, Hypocalcemia, Abnormality of thrombocytes |
ORPHA:172 |
| Adams-Oliver Syndrome 4 |
|
Ventricular septal defect, Patent ductus arteriosus, Short toe, Absent middle phalanx of the 3rd ... |
OMIM:615297 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Cryptorchidism, Macrothrombocytopenia, Poikilocyto... |
ORPHA:67044 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele... |
OMIM:187800 |
| Macular Dystrophy, Dominant Cystoid |
|
Cystoid macular edema, Edema |
OMIM:153880 |
| Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Elevated circulating creatine kinase concentration |
OMIM:615883 |
| Alpha-Heavy Chain Disease |
|
Splenomegaly, Hypocalcemia, Anemia |
ORPHA:100025 |
| Fibular Hemimelia |
|
Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of the hip, Finger ... |
ORPHA:93323 |
| Fetal Minoxidil Syndrome |
|
Clinodactyly of the 5th finger, Umbilical hernia, Ventricular septal defect, Generalized hirsutism |
ORPHA:1918 |
| Vitamin D-Dependent Rickets, Type 3 |
|
Elevated circulating parathyroid hormone level, Hypocalcemia, Hypophosphatemia |
OMIM:619073 |
| 46,Xx Testicular Difference Of Sex Development |
|
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries |
ORPHA:393 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:141000 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
| 2P21 Microdeletion Syndrome |
|
Hypogonadism, Hypocalcemia |
ORPHA:163693 |
| Parathyroid Carcinoma |
|
Hyperparathyroidism, Parathyroid carcinoma, Hypercalcemia |
OMIM:608266 |
| Feingold Syndrome 2 |
|
Ventricular septal defect, Short stature, Postnatal growth retardation, Short thumb, Short middle... |
OMIM:614326 |
| Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
| Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Splenomegaly, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration |
OMIM:619658 |
| Cayler Cardiofacial Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
| Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
| Precocious Puberty, Male-Limited |
|
Decreased testicular size, Precocious puberty in males |
OMIM:176410 |
| Feingold Syndrome Type 2 |
|
Toe syndactyly, Ventricular septal defect, Short stature, Short thumb, Short middle phalanx of fi... |
ORPHA:391646 |
| Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Pleural effusion, Generalized edema |
OMIM:618773 |
| Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
| Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
| Sonoda Syndrome |
|
High axial triradius, Ventricular septal defect, Short stature |
OMIM:270460 |
| Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
| Bleeding Disorder, Platelet-Type, 20 |
|
Menorrhagia, Thrombocytopenia |
OMIM:616913 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Hydrocele testis, Anemia, Neutropenia, Congenital thrombocytopenia, Thrombocytopenia |
OMIM:616738 |
| Von Willebrand Disease, Type 2 |
|
Menorrhagia, Thrombocytopenia |
OMIM:613554 |
| Diffuse Neonatal Hemangiomatosis |
|
Thrombocytopenia, Abnormal vagina morphology, Hypercalcemia, Anemia |
ORPHA:2123 |
| Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... |
ORPHA:399808 |
| Mesoaxial Hexadactyly And Cardiac Malformation |
|
Short stature, Ventricular septal defect, Patent ductus arteriosus, Hand polydactyly, Pulmonic st... |
OMIM:249670 |
| Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Brachydactyly, Short stature, Aplasia/Hypoplasia of the fibula, Growth delay, Short foot, Aplasia... |
ORPHA:52056 |
| Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Death in infancy, Ventricular septal defect, Mesomelic/rhizomelic limb shor... |
ORPHA:1354 |
| Gray Platelet Syndrome |
|
Splenomegaly, Abnormality of thrombocytes, Thrombocytopenia, Abnormality of the menstrual cycle |
ORPHA:721 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume |
OMIM:615193 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia |
OMIM:166990 |
| Catel-Manzke Syndrome |
|
Short stature, Ventricular septal defect, Highly arched eyebrow, Metatarsus valgus, Camptodactyly... |
ORPHA:1388 |
| Lymphatic Malformation 3 |
|
Lymphedema |
OMIM:613480 |
| Kennedy Disease |
|
Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Abnormal circulating lipid ... |
ORPHA:481 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Decreased circulating parathyroid hormone level, Hypokalemia, Hyperphosphatemia, Increased circul... |
OMIM:601198 |
| Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
| Eosinophilia, Familial |
|
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
| Blue Diaper Syndrome |
|
Abnormal circulating tryptophan concentration, Hypercalcemia |
OMIM:211000 |
| Phosphoglycerate Dehydrogenase Deficiency |
|
Decreased testicular size, Thrombocytopenia, Megaloblastic anemia |
OMIM:601815 |
| Cranioacrofacial Syndrome |
|
Abnormal hand morphology, Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis |
OMIM:122850 |
| Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia |
OMIM:133180 |
| Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... |
ORPHA:52901 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Secundum atrial septal defect, Growth delay, Hypertension, Short foot, Clinodactyly of the 5th fi... |
OMIM:619758 |
| Hyperparathyroidism 4 |
|
Primary hyperparathyroidism, Parathyroid carcinoma, Hypercalcemia |
OMIM:617343 |
| White Sponge Nevus 2 |
|
Edema |
OMIM:615785 |
| Refractory Celiac Disease |
|
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,... |
ORPHA:398063 |
| Intermediate Osteopetrosis |
|
Thrombocytopenia, Hypocalcemia, Anemia, Hepatosplenomegaly |
ORPHA:210110 |
| Platelet Signal Processing Defect |
|
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... |
OMIM:173590 |
| X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:85320 |
| Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
| Santos Syndrome |
|
Syndactyly, Short stature, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu... |
OMIM:613005 |
| Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
| Pseudo-Von Willebrand Disease |
|
Intermittent thrombocytopenia |
OMIM:177820 |
| Coenzyme Q10 Deficiency, Primary, 7 |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Bradycardia, Intraut... |
OMIM:616276 |
| Preeclampsia/Eclampsia 1 |
|
Thrombocytopenia |
OMIM:189800 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
| Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Hyperparathyroidism, Hypercalcemia, Anemia |
ORPHA:2668 |
| Autosomal Recessive Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Congenital hypoparathyroidism, Hypocalcemia, Hypocalcemic seizures |
ORPHA:93324 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Giant platelets, Neutrophi... |
OMIM:155100 |
| Pseudohypoparathyroidism, Type Ic |
|
Elevated circulating thyroid-stimulating hormone concentration, Pseudohypoparathyroidism, Elevate... |
OMIM:612462 |
| Spinal Muscular Atrophy, Type I |
|
Atrial septal defect, Ventricular septal defect, Death in childhood |
OMIM:253300 |
| Wt Limb-Blood Syndrome |
|
Pancytopenia, Cryptorchidism, Leukemia, Hypoplastic anemia, Thrombocytopenia |
OMIM:194350 |
| Malaria |
|
Anemia, Elevated circulating C-reactive protein concentration, Hyperbilirubinemia, Thrombocytopenia |
ORPHA:673 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypospadias, Decreased response to growth hormone stimulation test, Adrenal hypoplasia, Hypercalc... |
OMIM:614732 |
| Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
| Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Clinodactyly of the 5th finger, Patent ductus arteriosus, Ventricular septal defect, Single trans... |
OMIM:619717 |
| Intellectual Developmental Disorder, X-Linked 14 |
|
Macroorchidism |
OMIM:300062 |
| Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Death in infancy, Ventricular septal defect, Epiphyseal stippling |
OMIM:614876 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Decreased response to growth hormone stimulation test, Decreased circulating parathyroid hormone ... |
OMIM:241410 |
| Autoimmune Hypoparathyroidism |
|
Autoimmune hypoparathyroidism, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic... |
ORPHA:36913 |
| Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... |
OMIM:604169 |
| Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
| Atrioventricular Septal Defect 5 |
|
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart |
OMIM:614474 |
| Cardiomyopathy, Dilated, 2H |
|
Secundum atrial septal defect, Muscular ventricular septal defect, Reduced left ventricular eject... |
OMIM:620203 |
| Nemaline Myopathy 9 |
|
Ventricular septal defect, Polyhydramnios |
OMIM:615731 |
| Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Ventricular septal defect, Eczema, Short hallux, Long fingers, Clinodactyly of the 5th finger, Sl... |
OMIM:620393 |
| Pallister-Hall Syndrome |
|
Syndactyly, Mesoaxial foot polydactyly, Ventricular septal defect, Short stature, Toe syndactyly,... |
OMIM:146510 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
| Niemann-Pick Disease, Type B |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cells, Thrombocyt... |
OMIM:607616 |
| 14Q11.2 Microdeletion Syndrome |
|
Toe syndactyly, Ventricular septal defect, Highly arched eyebrow, Patent ductus arteriosus, Toe c... |
ORPHA:261120 |
| Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia |
OMIM:179800 |
| Familial Isolated Hypoparathyroidism |
|
Hypoparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration, Hypo... |
ORPHA:2238 |
| Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... |
ORPHA:439 |
| Brachydactyly-Syndactyly Syndrome |
|
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... |
OMIM:610713 |
| Stt3B-Cdg |
|
Cryptorchidism, Micropenis, Small scrotum, Thrombocytopenia |
ORPHA:370924 |
| Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea |
OMIM:614858 |
| Cardiomyopathy, Dilated, 2D |
|
Perinuclear cardiomyocyte vacuolization, Death in infancy, Tricuspid regurgitation, Muscular vent... |
OMIM:619371 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Left ventricular outflow tract obstruction, Hypoplastic left heart, Ao... |
OMIM:615779 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Iron deficiency anemia, Hypocalcemia, Hypophosphatemia |
ORPHA:89937 |
| Roch-Leri Mesosomatous Lipomatosis |
|
Thrombocytopenia |
ORPHA:529 |
| Pseudopseudohypoparathyroidism |
|
Abnormality of the endocrine system, Hypocalcemia, Elevated circulating parathyroid hormone level... |
ORPHA:79445 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... |
OMIM:314050 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
First degree atrioventricular block, Cardiomegaly, Right atrial enlargement, Atrioventricular blo... |
OMIM:115197 |
| Lymphatic Malformation 10 |
|
Lymphedema |
OMIM:619369 |
| Acute Myelomonocytic Leukemia |
|
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia |
ORPHA:517 |
| Kenny-Caffey Syndrome, Type 1 |
|
Congenital hypoparathyroidism, Hypocalcemia, Anemia, Hypomagnesemia |
OMIM:244460 |
| Giant platelet syndrome with thrombocytopenia |
|
Giant platelets, Thrombocytopenia |
OMIM:137560 |
| Indomethacin Embryofetopathy |
|
Ventricular septal defect, Hydrops fetalis, Cardiomyopathy, Atrial septal defect, Oligohydramnios |
ORPHA:1909 |
| Deafness, Unilateral, With Delayed Endolymphatic Hydrops |
|
Edema |
OMIM:612097 |
| Lymphatic Malformation 9 |
|
Predominantly lower limb lymphedema |
OMIM:619319 |
| Hypotonia-Cystinuria Syndrome |
|
Hypocalcemia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test |
OMIM:606407 |
| Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:601127 |
| Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
| Desbuquois Syndrome |
|
Severe short stature, Ventricular septal defect, Camptodactyly of finger, Coxa valga, Abnormal ey... |
ORPHA:1425 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility, Elevated circulating creatine kinase concentration |
OMIM:313200 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Cryptorchidism, Micropenis, Small scrotum, Thrombocytopenia |
OMIM:615597 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Sparse scalp hair, Brachydactyly, Short stature, Single transverse palmar crease, Muscular ventri... |
OMIM:620062 |
| Choanal Atresia And Lymphedema |
|
Pericardial effusion, Lymphedema |
OMIM:613611 |
| Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Giant platelets, Macrothrombocytopenia, Menorrh... |
OMIM:231200 |
| Mmep Syndrome |
|
Split foot, Ventricular septal defect, Triphalangeal thumb |
ORPHA:3434 |
| Holt-Oram Syndrome |
|
Finger syndactyly, Paroxysmal atrial fibrillation, Ventricular septal defect, Down-sloping should... |
ORPHA:392 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Anemia |
OMIM:615285 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Short stature, Single transverse palmar crease, Overlapping toe, Wide anterior fontanel, Fibular ... |
OMIM:201170 |
| Roifman Syndrome |
|
Noncompaction cardiomyopathy, Short metacarpal, Hip contracture, Ventricular septal defect, Eczem... |
OMIM:616651 |
| Bone Marrow Failure Syndrome 2 |
|
Leukopenia, Thrombocytopenia, Anemia |
OMIM:615715 |
| Oculoskeletodental Syndrome |
|
Hypercalcemia, Splenomegaly, Cryptorchidism, Hypocalcemia, Hypothyroidism |
OMIM:618440 |
| Refractory Anemia |
|
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... |
ORPHA:98826 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Anemia, Hemopha... |
OMIM:603552 |
| Bardet-Biedl Syndrome 19 |
|
Ventricular septal defect, Mesoaxial hand polydactyly, Partial atrioventricular canal defect, Pos... |
OMIM:615996 |
| Beta-Thalassemia |
|
Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenome... |
ORPHA:848 |
| X-Linked Agammaglobulinemia |
|
Thrombocytopenia, Hypocalcemia, Anemia, Neutropenia |
ORPHA:47 |
| Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Scapular winging, Tricuspid regurgitation, Ventricular septal defect, Short stature, Single trans... |
OMIM:618870 |
| Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Overlapping toe, Ventricular septal defect, Avascular necrosis of the capital femoral epiphysis, ... |
OMIM:614262 |
| Fanconi Anemia, Complementation Group G |
|
Thrombocytopenia, Leukemia, Anemia, Neutropenia |
OMIM:614082 |
| Megabladder, Congenital |
|
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... |
OMIM:618719 |
| Filippi Syndrome |
|
Ventricular septal defect, Single transverse palmar crease, Postnatal growth retardation, 2-4 toe... |
OMIM:272440 |
| Lymphedema And Cerebral Arteriovenous Anomaly |
|
Lymphedema |
OMIM:152900 |
| Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia |
ORPHA:1980 |
| 8P23.1 Duplication Syndrome |
|
Toe syndactyly, Ventricular septal defect, Highly arched eyebrow, Pulmonic stenosis, Tetralogy of... |
ORPHA:251076 |
| Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614249 |
| Atrial Septal Defect 2 |
|
Aortic regurgitation, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Mitral r... |
OMIM:607941 |
| Li-Campeau Syndrome |
|
Ventricular septal defect, Short stature, Single transverse palmar crease, Patent ductus arterios... |
OMIM:619189 |
| Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Occipital encephalocele, Humeroradial synostosis, Arachnodactyly, Oligodactyly |
OMIM:614416 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... |
ORPHA:75564 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
| Sandestig-Stefanova Syndrome |
|
Laterally extended eyebrow, Rocker bottom foot, Highly arched eyebrow, Muscular ventricular septa... |
OMIM:618804 |
| Brachydactyly, Type B1 |
|
Type B brachydactyly, Syndactyly, Ventricular septal defect, Aplasia/Hypoplasia of the distal pha... |
OMIM:113000 |
| 16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Arachnodactyly, Hand polydactyly, Transposition of the great arteries,... |
ORPHA:261243 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Pancytopenia, Testicular atrophy, Thrombocytopenia |
OMIM:613987 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Mitral regurgitation, Abnormal cardiac septum morphology, Ventricular septal defect, Postaxial ha... |
ORPHA:83473 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Overlapping fingers, Ventricular septal defect, Hypoplastic right heart, Highly arched eyebrow, O... |
OMIM:618142 |
| Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Ventricular septal defect, Overlapping toe, Patent ductus arteriosus, Clinodactyly of the 5th fin... |
OMIM:618974 |
| Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Atrial septal defect, Ventricular septal defect, Low anterior hairline |
OMIM:608227 |
| Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Ventricular septal defect, Death in childhood |
OMIM:613759 |
| Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... |
OMIM:617300 |
| Postaxial Tetramelic Oligodactyly |
|
Abnormal finger morphology, Ectrodactyly, Oligodactyly, Abnormal metacarpal morphology |
ORPHA:2730 |
| Albers-Schönberg Osteopetrosis |
|
Abnormal leukocyte morphology, Hypocalcemia, Anemia |
ORPHA:53 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Pancytopenia, Splenomegaly, Anemia, Hypocalcemia, Thrombocytopenia |
OMIM:259700 |
| Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Ventricular septal defect, Cognitive impairment, Intrauterine growth retardation, Truncus arterio... |
ORPHA:2516 |
| Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta... |
ORPHA:3282 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Cryptorchidism, Elevated circulating thyroid-stimulating horm... |
OMIM:618183 |
| Lambert Syndrome |
|
Intrauterine growth retardation, Branchial anomaly, Ventricular septal defect |
ORPHA:1296 |
| Noonan Syndrome 12 |
|
Ventricular septal defect, Polyhydramnios, Proximal placement of thumb, Atopic dermatitis, Tetral... |
OMIM:618624 |
| Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Thrombocytopenia |
OMIM:614493 |
| Sanjad-Sakati Syndrome |
|
Hypoparathyroidism, Hypoplasia of penis, Cryptorchidism, Hyperphosphatemia, Hypocalcemia, Congeni... |
ORPHA:2323 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hypokalemia, Hypocalcemia, Anemia, Hypomagnesemia |
OMIM:175500 |
| Fixed Subaortic Stenosis |
|
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... |
ORPHA:3092 |
| Sea-Blue Histiocyte Disease |
|
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis |
OMIM:269600 |
| Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
| Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:178370 |
| Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia |
OMIM:615008 |
| Fetal Parvovirus Syndrome |
|
Thrombocytopenia, Anemia |
ORPHA:295 |
| Weill-Marchesani Syndrome |
|
Short stature, Ventricular septal defect, Short thumb, Mitral regurgitation, Pulmonic stenosis, A... |
ORPHA:3449 |
| Grange Syndrome |
|
Aortic regurgitation, Syndactyly, Ventricular septal defect, Patent ductus arteriosus, Hypertensi... |
ORPHA:79094 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Menorrhagia, Impaired ... |
OMIM:617443 |
| Transaldolase Deficiency |
|
Hepatosplenomegaly, Anemia, Abnormality of the clitoris, Abnormal circulating glutamine concentra... |
ORPHA:101028 |
| Houge-Janssens Syndrome 3 |
|
Single transverse palmar crease, Muscular ventricular septal defect, Attention deficit hyperactiv... |
OMIM:618354 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Death in infancy, Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia |
OMIM:616277 |
| Joubert Syndrome 18 |
|
Occipital encephalocele, Trident pelvis, Bowing of the long bones, Ventricular septal defect, Pos... |
OMIM:614815 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Thrombocytopenia, Chronic neutropenia, Anemia |
OMIM:619302 |
| Gracile Bone Dysplasia |
|
Asplenia, Micropenis, Hypoplastic spleen, Hypocalcemia |
OMIM:602361 |
| Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Decreased proportion of CD3-posit... |
ORPHA:90362 |
| Recombinant Chromosome 8 Syndrome |
|
Ventricular septal defect, Postnatal growth retardation, Patent ductus arteriosus, Low posterior ... |
OMIM:179613 |
| 8Q12 Microduplication Syndrome |
|
Ventricular septal defect, Highly arched eyebrow, Short foot, Attention deficit hyperactivity dis... |
ORPHA:228399 |
| Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... |
OMIM:159550 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Ventricular septal defect, Bicuspid aortic valve, Eczema, Highly arched eyebrow, Patent ductus ar... |
ORPHA:500159 |
| Atypical Hemolytic Uremic Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:2134 |
| Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Cryptorchidism, Pancreatic lymphangiectasis, Splenomegaly, Hepatosplenomegaly, Abnormality of the... |
ORPHA:1655 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia |
OMIM:610539 |
| Xk Aprosencephaly Syndrome |
|
Atrial septal defect, Abnormal morphology of the radius, Ventricular septal defect, Polyhydramnios |
ORPHA:3469 |
| Isolated Splenogonadal Fusion |
|
Abnormal penis morphology, Unilateral cryptorchidism, Elevated circulating alpha-fetoprotein conc... |
ORPHA:457083 |
| Microcephaly-Micromelia Syndrome |
|
Micromelia, Absent thumb, Absent radius, Short tibia, Humeroradial synostosis, Forearm undergrowt... |
OMIM:251230 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, Increased circulating ferritin concentratio... |
OMIM:613101 |
| Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Decreased response to growth hormone stimulation test, Pseudohypoparathyroidism, Elev... |
ORPHA:94089 |
| Noonan Syndrome 8 |
|
Curly hair, Ventricular septal defect, Eczema, Polyhydramnios, Short stature, Patent ductus arter... |
OMIM:615355 |
| Rhabdoid Tumor |
|
Thrombocytopenia, Hypercalcemia, Anemia |
ORPHA:69077 |
| Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Elbow dislocation, Short t... |
ORPHA:3258 |
| Oculoskeletodental Syndrome |
|
Hypercalcemia, Hypocalcemia |
ORPHA:557003 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... |
ORPHA:158057 |
| Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:169079 |
| Congenital Gerbode Defect |
|
Elevated right atrial pressure, Tricuspid regurgitation, Ventricular septal defect, Left-to-right... |
ORPHA:99095 |
| Isolated Klippel-Feil Syndrome |
|
Ventricular septal defect, Spina bifida, Low posterior hairline, Abnormal shoulder morphology, Co... |
ORPHA:2345 |
| Dahlberg-Borer-Newcomer Syndrome |
|
Hypoparathyroidism, Hypothyroidism, Hypocalcemia |
ORPHA:1563 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Thyroid lymphangiectasia, Splenomegaly, Cryptorchidism, Pancreatic lymphangiectasis, Hypocalcemia... |
OMIM:235255 |
| Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion |
|
Abnormal circulating calcium concentration, Abnormality of the parathyroid gland, Secondary hyper... |
ORPHA:140286 |
| Ring Chromosome 10 Syndrome |
|
Hypocalcemia |
ORPHA:1438 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Small scrotum, Hypospadias, Cryptorchidism, Hypocalcemia, Micropenis |
OMIM:607143 |
| Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Death in infancy, Sparse eyelashes, Short stature, Polyhydramnios, Tapered finger, Pericardial ef... |
OMIM:620070 |
| Forsythe-Wakeling Syndrome |
|
Thrombocytopenia |
OMIM:613606 |
| Colchicine Poisoning |
|
Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypo... |
ORPHA:31824 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Aortic regurgitation, Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Cong... |
OMIM:614980 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Limited elbow extension and supination, Brachydactyly, Ventricular septal defect, Short thumb, Sy... |
ORPHA:401935 |
| Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
| Beemer-Ertbruggen Syndrome |
|
Ambiguous genitalia, Cryptorchidism, Thrombocytopenia |
ORPHA:1237 |
| Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Ventricular septal defect, Proportionate short stature, Patent ductus arteriosus, Attention defic... |
OMIM:617044 |
| Fanconi Anemia, Complementation Group V |
|
Anemia, Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Neutropenia |
OMIM:617243 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Brachydactyly, Ventricular septal defect, Patent ductus arteriosus, Drumstick terminal phalanges,... |
OMIM:612938 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Elevated circulating parathyroid hormone level, Hypocalcemia, Secondary hyperparathyroidism, Hypo... |
OMIM:264700 |
| Celiac Disease, Susceptibility To, 1 |
|
Macrocytic anemia, Thyroiditis, Iron deficiency anemia, Infertility, Hypocalcemia, Delayed pubert... |
OMIM:212750 |
| Ulnar Hemimelia |
|
Glenoid fossa hypoplasia, Limited elbow movement, Abnormal calcification of the carpal bones, Lim... |
ORPHA:93320 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Left-to-right shunt, Overlapping toe, Muscular ventricular septal defect, Patent ductus arteriosu... |
ORPHA:363444 |
| Microphthalmia, Syndromic 12 |
|
Neonatal death, Hypoplastic left atrium, Ventricular septal defect |
OMIM:615524 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Ventricular septal defect, Polyhydramnios, Postnatal growth retardation, Large placenta, Abnormal... |
ORPHA:254534 |
| Carpenter Syndrome 1 |
|
Duplication of the proximal phalanx of the hallux, Clinodactyly of the 5th finger, Atrial septal ... |
OMIM:201000 |
| Thyrocerebrorenal Syndrome |
|
Euthyroid goiter, Thrombocytopenia |
ORPHA:3327 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Abnormal morphology of the radius, Aplastic clavicle, Abnormality of the humerus, Short thumb, El... |
ORPHA:2538 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao... |
OMIM:617912 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
| Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Aplasia/Hypoplasia of the distal phalanges of the toes, Ventricular septal defect, Highly arched ... |
ORPHA:94066 |
| Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Ventricular septal defect, Short thumb, Patent ductus arteriosus, Mitral... |
OMIM:612561 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Tachycardia, Ventricular septal defect, Abnormal pulmona... |
ORPHA:860 |
| Transcobalamin Deficiency |
|
Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia |
ORPHA:859 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Ventricular septal defect, Micromelia, Hypoplastic left heart, Disproportionate short-limb short ... |
ORPHA:2772 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Ventricular septal defect, Bicuspid aortic valve, Eczema, Highly arched eyebrow, Patent ductus ar... |
OMIM:617751 |
| Aicardi-Goutieres Syndrome 3 |
|
Thrombocytopenia, Hepatosplenomegaly |
OMIM:610329 |
| Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Diabetes mellitus, Megaloblastic anemia, Neutropenia, Diabetes insipidus, T... |
OMIM:598500 |
| Ritscher-Schinzel Syndrome 1 |
|
Syndactyly, Ventricular septal defect, Double outlet right ventricle, Low posterior hairline, Hyp... |
OMIM:220210 |
| Bartsocas-Papas Syndrome 1 |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Syndactyly, Alopecia totalis, Short metacarpal, Abse... |
OMIM:263650 |
| Pelger-Huet Anomaly |
|
Ventricular septal defect, Eczema, Upper limb undergrowth, Polydactyly, Short 3rd metacarpal, Umb... |
OMIM:169400 |
| Polysyndactyly With Cardiac Malformation |
|
Syndactyly, Ventricular septal defect, Polyhydramnios, Preaxial hand polydactyly, Duplication of ... |
OMIM:263630 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:308700 |
| Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hyperparathyroidism, Hypercalcemia |
OMIM:239199 |
| Hypercalcemia, Infantile, 2 |
|
Hypercalcemia, Hypophosphatemia |
OMIM:616963 |
| Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi... |
ORPHA:247353 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Diabetes mellitus, Thiamine-responsive megaloblastic anemia, Cryptorchidism... |
OMIM:249270 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Autoimmune hemolytic anemia, Hyperthyroidism, Autoimmune thrombocytopenia, Abnormality of the end... |
ORPHA:37042 |
| Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Hyp... |
ORPHA:94093 |
| Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Highly arched eyebrow, Single transverse palmar... |
ORPHA:329224 |
| Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Laterally extended eyebrow, Short 2nd finger, Ventricular septal defect, Short stature, Highly ar... |
OMIM:600987 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Spina bifida, Anencephaly, Aplasia/Hypoplasia of the radius, Hypoplast... |
ORPHA:2476 |
| Ritscher-Schinzel Syndrome 2 |
|
Prominent fingertip pads, Syndactyly, Ventricular septal defect, Broad hallux, Overlapping toe, C... |
OMIM:300963 |
| Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Clinodactyly of the 5th finger, Ventricular septal defect, Rocker bottom foot |
OMIM:618506 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Lymphopenia, Thrombocytopenia, Genital ulcers |
OMIM:616744 |
| Congenital Rubella Syndrome |
|
Ventricular septal defect, Short stature, Skin rash, Patent ductus arteriosus, Atrial septal defe... |
ORPHA:290 |
| Cornelia De Lange Syndrome |
|
Micromelia, Proximal placement of thumb, Synophrys, Low anterior hairline, Atrial septal defect, ... |
ORPHA:199 |
| Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Short stature |
OMIM:618330 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... |
OMIM:300835 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Hydranencephaly, Truncus arteriosus, Ventricular septal defect, Short distal phalanx of finger |
OMIM:601355 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arterios... |
ORPHA:284169 |
| Moyamoya Disease With Early-Onset Achalasia |
|
Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Aplasia/Hypoplasia of the thumb, Short stature, Abnormal morphology of ulna, Tarsal synostosis, A... |
ORPHA:1307 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Cryptorchidism, Anemia, Type I diabetes mellitus, Lymphopenia, Thrombocytopenia |
OMIM:620365 |
| Hyperparathyroidism 2 With Jaw Tumors |
|
Hyperparathyroidism, Pancreatic adenocarcinoma, Hypercalcemia, Hurthle cell thyroid adenoma, Para... |
OMIM:145001 |
| Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Edema, Cardiomegaly, Polyhydramnios, Low anterior hairline, Finger joint h... |
ORPHA:363705 |
| Verheij Syndrome |
|
Branchial cyst, Ventricular septal defect, Short stature, Clinodactyly, Hip dislocation, Growth d... |
OMIM:615583 |
| Quebec Platelet Disorder |
|
Menorrhagia, Thrombocytopenia, Impaired epinephrine-induced platelet aggregation |
OMIM:601709 |
| Jansen-De Vries Syndrome |
|
Ventricular septal defect, Short stature, Bicuspid aortic valve, Small hand, Short foot, Attentio... |
OMIM:617450 |
| Preeclampsia |
|
Type I diabetes mellitus, Elevated circulating creatinine concentration, Thrombocytopenia, Polycy... |
ORPHA:275555 |
| Chromosome 5Q12 Deletion Syndrome |
|
Long toe, Ventricular septal defect, Postnatal growth retardation, Long fingers, Patent ductus ar... |
OMIM:615668 |
| Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Short toe, Preaxia... |
ORPHA:2756 |
| Tetramelic Monodactyly |
|
Split hand, Oligodactyly |
ORPHA:2564 |
| Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Postnatal growth retardation, Ventricular septal defect, Fifth finger distal phalanx clinodactyly... |
ORPHA:3369 |
| Timothy Syndrome |
|
Hypothyroidism, Hypocalcemia |
OMIM:601005 |
| Igg4-Related Thyroid Disease |
|
Nodular goiter, Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland... |
ORPHA:64744 |
| Woods Syndrome |
|
Ventricular septal defect, Single transverse palmar crease, Supernumerary nipple, 3-4 finger cuta... |
OMIM:615236 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Cardiac arrest, Short stature, Congestive heart failure, Paroxysmal at... |
ORPHA:49827 |
| Adams-Oliver Syndrome 6 |
|
Syndactyly, Tricuspid regurgitation, Ventricular septal defect, Portal hypertension, Foot oligoda... |
OMIM:616589 |
| Tyshchenko Syndrome |
|
Ventricular septal defect, Thick hair, Polyhydramnios, Supernumerary nipple, Short stature, Low a... |
OMIM:615102 |
| Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Short stature, Low anterior hairline, Atrial ... |
OMIM:612946 |
| Baller-Gerold Syndrome |
|
Limited elbow movement, Patellar hypoplasia, Spina bifida occulta, Hypoplasia of the ulna, Radial... |
OMIM:218600 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hypochromic microcytic an... |
OMIM:259720 |
| Kury-Isidor Syndrome |
|
Finger syndactyly, Alopecia, Brachydactyly, Ventricular septal defect, Rocker bottom foot, Proxim... |
OMIM:619762 |
| Blue Diaper Syndrome |
|
Decreased circulating T4 concentration, Elevated circulating thyroid-stimulating hormone concentr... |
ORPHA:94086 |
| Tricuspid Atresia |
|
Ventricular septal defect, Hypoplasia of right ventricle, Transposition of the great arteries, At... |
ORPHA:1209 |
| Mirage Syndrome |
|
Hyponatremia, Hypergonadotropic hypogonadism, Hypospadias, Adrenal hypoplasia, Cryptorchidism, Th... |
OMIM:617053 |
| Folate Malabsorption, Hereditary |
|
Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia |
OMIM:229050 |
| Hemochromatosis, Type 1 |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Splenomegaly, Increased circulating ferritin co... |
OMIM:235200 |
| Donnai-Barrow Syndrome |
|
Umbilical hernia, Widow's peak, Wide anterior fontanel, Ventricular septal defect |
ORPHA:2143 |
| Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test... |
ORPHA:79444 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Tachycardia, Ventricular septal defect, Tapered finger, Patent ductus arteriosus, Interphalangeal... |
OMIM:613870 |
| Galloway-Mowat Syndrome 7 |
|
Hallux valgus, Short stature, Ventricular septal defect, Eczema, Edema, Single transverse palmar ... |
OMIM:618348 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Pancytopenia, Diabetes mellitus, Increased blood urea nitrogen, Anemia, Leukopenia,... |
OMIM:613845 |
| Kenny-Caffey Syndrome, Type 2 |
|
Hypoparathyroidism, Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia, Anemia |
OMIM:127000 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Ventricular septal defect, Polyhydramnios, Aplasia/Hyp... |
ORPHA:2256 |
| Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Reduced circulating prolactin concentration |
OMIM:264120 |
| Familial Isolated Hyperparathyroidism |
|
Hypercalcemia, Primary hyperparathyroidism, Elevated circulating parathyroid hormone level, Hypop... |
ORPHA:99879 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Syndactyly, Ventricular septal defect, Short stature, Abnormality of the hand, Low anterior hairl... |
ORPHA:369891 |
| Bone Marrow Failure Syndrome 5 |
|
Pure red cell aplasia, Erythroid hypoplasia, Hypogonadism, Testicular atrophy, Anemia |
OMIM:618165 |
| Ulnar Agenesis And Endocardial Fibroelastosis |
|
Aplasia of the ulna, Hand oligodactyly, Hydrops fetalis, Endocardial fibroelastosis, Neonatal death |
OMIM:276822 |
| Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Thrombocytopenia |
OMIM:616435 |
| Filippi Syndrome |
|
Enlarged epiphyses, Finger syndactyly, Severe short stature, Short stature, Ventricular septal de... |
ORPHA:3255 |
| Genetic Recurrent Myoglobinuria |
|
Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia |
ORPHA:99845 |
| Trigonocephaly With Short Stature And Developmental Delay |
|
Clinodactyly of the 5th finger, Ventricular septal defect, Short stature |
OMIM:314320 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Hypocalcemia, Hypophosphatemia |
OMIM:600081 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Hyperparathyroidism, Hypocalcemia, Hypophosphatemia |
ORPHA:93160 |
| Poland Syndrome |
|
Syndactyly, Unilateral oligodactyly, Dextrocardia, Unilateral brachydactyly, Hypoplasia of deltoi... |
OMIM:173800 |
| Corneal Dystrophy, Fuchs Endothelial, 2 |
|
Edema |
OMIM:610158 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Short femur, Ventricular septal defect, Fractured radius, Polyhydramnios, Cardiomegaly, Decreased... |
OMIM:616897 |
| Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Adrenal hypoplasia, Thrombocytopenia, Hypoplasia of the uterus, Leukopeni... |
OMIM:619151 |
| Neurooculocardiogenitourinary Syndrome |
|
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnor... |
OMIM:618652 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Ventricular septal defect, Broad hallux, Clinodactyly of the 2nd toe, Coxa valga, Wide pubic symp... |
OMIM:620073 |
| Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Preaxial foot polydactyly, Polysyndactyly of hallux, Ventricular septal defect |
OMIM:235750 |
| Fetal Trimethadione Syndrome |
|
Ventricular septal defect, Synophrys, Transposition of the great arteries, Atrial septal defect, ... |
ORPHA:1913 |
| Thyrocerebroretinal Syndrome |
|
Thrombocytopenia, Goiter |
OMIM:274240 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Bowing of the long bones, Rhizomelia, Ventricular septal defect, Proximal placement of thumb, Abn... |
ORPHA:93267 |
| Granulomatous Slack Skin |
|
Hypercalcemia |
ORPHA:33111 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Hypospadias, Cryptorchidism, Thrombocytopenia, Hypocalcemia, Hyperbilirubinem... |
ORPHA:163979 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Hypomethioninemia, Cryptorchidism, Hyperhomocystinemia, Normochromic anem... |
OMIM:614857 |
| Holt-Oram Syndrome |
|
Secundum atrial septal defect, Aplasia of the pectoralis major muscle, Abnormal carpal morphology... |
OMIM:142900 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia |
OMIM:314000 |
| Pallister-Hall Syndrome |
|
Atrial septal defect, Atrioventricular canal defect, Mesoaxial polydactyly, Radial bowing, Short ... |
ORPHA:672 |
| Birk-Aharoni Syndrome |
|
Muscular ventricular septal defect, Thick eyebrow |
OMIM:620071 |
| Phaver Syndrome |
|
Broad hallux phalanx, Ventricular septal defect, Camptodactyly of finger, Short thumb, Myelomenin... |
ORPHA:2876 |
| Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Dry hair, Short 3rd toe, Tapered finger, Short thumb, Muscular ventricular septal defect, Split h... |
OMIM:618569 |
| Aicardi-Goutieres Syndrome 6 |
|
Splenomegaly, Hemolytic anemia, Thrombocytopenia |
OMIM:615010 |
| Acrorenal Syndrome |
|
Hand oligodactyly |
OMIM:102520 |
| Trisomy 13 |
|
Ventricular septal defect, Abnormal eyelash morphology, Patent ductus arteriosus, Postaxial hand ... |
ORPHA:3378 |
| 3P25.3 Microdeletion Syndrome |
|
Ventricular septal defect, Broad hallux, Proximal placement of thumb, Tapered finger, Overlapping... |
ORPHA:435638 |
| Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Brachydactyly, Short stature, Ventricular septal defect, Abnormal hair pattern, Large hands, Umbi... |
ORPHA:1770 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Overriding aorta, Ventricular septal defect, Nonimmune hydrops fetalis, Patent ductus arteriosus,... |
OMIM:617021 |
| Acrocardiofacial Syndrome |
|
Hallux valgus, Death in infancy, Finger syndactyly, Toe syndactyly, Ventricular septal defect, Mi... |
ORPHA:2008 |
| Lymphoproliferative Syndrome 1 |
|
Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... |
OMIM:613011 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... |
OMIM:308750 |
| Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Elevated circulating C-reactive protein concentration, Splenomegaly, Increased circ... |
OMIM:616050 |
| Systemic Lupus Erythematosus 17 |
|
Leukopenia, Lymphopenia, Thrombocytopenia, Autoimmune thrombocytopenia |
OMIM:301080 |
| Moyamoya Disease 6 With Or Without Achalasia |
|
Impotence, Thrombocytopenia |
OMIM:615750 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Long toe, Ventricular septal defect, Overlapping toe, Parachute mitral valve, Highly arched eyebr... |
OMIM:618316 |
| 46,Xy Sex Reversal 10 |
|
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... |
OMIM:616425 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Elevated circulating parathyroid hormone level, Hypocalcemia, Secondary hyperparathyroidism, Hypo... |
ORPHA:289157 |
| Pierre Robin Syndrome And Oligodactyly |
|
Hand oligodactyly |
OMIM:172880 |
| Atelis Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect, Eczema, Attention deficit hyperactivity disorder |
OMIM:620184 |
| Fadd-Related Immunodeficiency |
|
Ventricular septal defect |
ORPHA:306550 |
| Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Hyperextensibility of the finger joints, Toe syndactyly, Short stature, Ventricular septal defect... |
ORPHA:505237 |
| Cardiofaciocutaneous Syndrome 3 |
|
Curly hair, Ventricular septal defect, Short stature, Pulmonic stenosis, Atrial septal defect, Hy... |
OMIM:615279 |
| Hypocalciuric Hypercalcemia, Familial, Type I |
|
Parathyroid adenoma, Hyperparathyroidism, Hypermagnesemia, Hypercalcemia |
OMIM:145980 |
| Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test... |
ORPHA:79443 |
| Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Medial flaring of the eyebrow, Ulnar deviation of the hand, Ventricular septal defect, Short stat... |
OMIM:620113 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Ventricular septal defect, Sho... |
ORPHA:1908 |
| Yellow Nail Syndrome |
|
Predominantly lower limb lymphedema, Lymphedema |
OMIM:153300 |
| Thrombotic Thrombocytopenic Purpura |
|
Decreased serum creatinine, Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:54057 |
| Char Syndrome |
|
Mesoaxial foot polydactyly, Ventricular septal defect, Toe syndactyly, Supernumerary nipple, Meso... |
ORPHA:46627 |
| Insulin-Like Growth Factor I, Resistance To |
|
Sparse scalp hair, Severe short stature, Ventricular septal defect, Short stature, Highly arched ... |
OMIM:270450 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Thick eyebrow, Scapular winging, Ventricular septal defect, Single transverse palmar crease, Sand... |
OMIM:617061 |
| Immunodeficiency 46 |
|
Neutropenia, Anemia, Intermittent thrombocytopenia |
OMIM:616740 |
| Transaldolase Deficiency |
|
Ventricular septal defect, Wide anterior fontanel, Patent ductus arteriosus, Synophrys, Telangiec... |
OMIM:606003 |
| Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o... |
ORPHA:93322 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Syndactyly, Ventricular septal defect, Polydactyly |
OMIM:602501 |
| Slc35A1-Cdg |
|
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia |
ORPHA:238459 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Neonatal death, Death in infancy, Ventricular septal defect |
OMIM:613730 |
| Sitosterolemia 1 |
|
Reticulocytosis, Hyperapobetalipoproteinemia, Reduced haptoglobin level, Thrombocytopenia, Spleno... |
OMIM:210250 |
| Chromosome 15Q14 Deletion Syndrome |
|
Atrial septal defect, Ventricular septal defect, Highly arched eyebrow |
OMIM:616898 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Single transverse palmar crease, Progressive neurologic deterioration, Micromelia, Delayed epiphy... |
OMIM:210710 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Alopecia, Brittle hair, Ventricular septal defect, Short stature, Postaxial hand polydactyly, Coa... |
ORPHA:75389 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Tetralogy of Fallot, Ventricular septal defect, Abnormal hip bone morphology, Short stature |
ORPHA:1166 |
| Primary Non-Essential Cutis Verticis Gyrata |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:357225 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Ventricular septal defect |
OMIM:616816 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Diabetes mellitus, Septate vagina, Uterus didelphys, Parathyroid hypoplasia, ... |
ORPHA:2237 |
| Cooper-Jabs Syndrome |
|
Ventricular septal defect, Short stature, Proximal placement of thumb, Camptodactyly of finger, A... |
ORPHA:1488 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Ventricular septal defect, Synophrys, 2-3 toe syndactyly, Growth delay, Talipes equinovarus, Clin... |
ORPHA:3306 |
| Bacterial Toxic-Shock Syndrome |
|
Elevated circulating creatine kinase concentration, Elevated circulating creatinine concentration... |
ORPHA:36234 |
| Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Bicuspid aortic valve, Single transverse palmar crease, Limited elbow movement, Proximal placemen... |
OMIM:610759 |
| Sotos Syndrome |
|
Ventricular septal defect, Sparse eyebrow, Muscular ventricular septal defect, Patent ductus arte... |
OMIM:117550 |
| Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Short stature, Ventricular septal defect, Highly arched eyebrow, Tapered finger, Overlapping toe,... |
OMIM:617452 |
| Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Atrial flutter, Overriding aorta, Ventricular septal defect, Lymphedema, Patent ductus arteriosus... |
OMIM:601927 |
| Periventricular Nodular Heterotopia 7 |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular septal defect, 1... |
OMIM:617201 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Recurrent skin infections, Postnatal growth retardation, Ventricular septal defect, Short stature |
OMIM:620210 |
| Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Acute myeloid leukemia, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal dense g... |
OMIM:601399 |
| Immunodeficiency 32B |
|
Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Hypoalbuminemia, Mono... |
OMIM:226990 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Thrombocytopenia, Impaired ADP-in... |
OMIM:153670 |
| Braddock-Carey Syndrome 1 |
|
Curly hair, Aortic valve prolapse, Ventricular septal defect, Small hand, Growth delay, Talipes e... |
OMIM:619980 |
| Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Ventricular septal defect, Supernumerary nipple, Increased nuchal translucency, Thin eyebrow, Int... |
OMIM:617635 |
| 15Q11.2 Microdeletion Syndrome |
|
Short attention span, Ventricular septal defect, Abnormal heart morphology, Total anomalous pulmo... |
ORPHA:261183 |
| Pearson Syndrome |
|
Hypoparathyroidism, Reticulocytosis, Pancytopenia, Diabetes mellitus, Pancreatic fibrosis, Decrea... |
ORPHA:699 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Elevated circulating creatine kinase concentration, Thrombocytopenia |
OMIM:614727 |
| Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hyperparathyroidism, Hypercalcemia, Hypophosphatemic rickets, Elevated circulating parathyroid ho... |
OMIM:612089 |
| Thymic Neuroendocrine Tumor |
|
Pituitary null cell adenoma, Pancreatic islet cell adenoma, Hypercalcemia, Neoplasm of the thymus... |
ORPHA:97289 |
| Prune Belly Syndrome |
|
Congenital hip dislocation, Ventricular septal defect, Patent ductus arteriosus, Talipes equinova... |
ORPHA:2970 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Broad toe, Ventricular septal defect, Rocker bottom foot, Patent ductus arteriosus, Telangiectasi... |
OMIM:612582 |
| Gray Platelet Syndrome |
|
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ... |
OMIM:139090 |
| Wolfram Syndrome 1 |
|
Sideroblastic anemia, Diabetes mellitus, Diabetes insipidus, Megaloblastic anemia, Hypothyroidism... |
OMIM:222300 |
| Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect, Talipes equinovarus |
OMIM:209770 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Short femur, Ventricular septal defect, Foot oligodactyly, Anterior encephalocele |
OMIM:601357 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Edema of the dorsum of feet, Edema of the dorsum of hands, Femoral bowing, Abnormal shoulder morp... |
OMIM:274000 |
| Microcephaly-Capillary Malformation Syndrome |
|
Brachydactyly, Ventricular septal defect, Short stature, Abnormal hair whorl, Atrial septal defec... |
OMIM:614261 |
| Chromosome 18Q Deletion Syndrome |
|
Toe syndactyly, Absence of the pulmonary valve, Ventricular septal defect, Short stature, Proxima... |
OMIM:601808 |
| 19P13.3 Microduplication Syndrome |
|
Ventricular septal defect, Long fingers, Hip dislocation, Growth delay, Hip dysplasia, Pulmonary ... |
ORPHA:447980 |
| 3C Syndrome |
|
Death in infancy, Finger syndactyly, Ventricular septal defect, Abnormal mitral valve morphology,... |
ORPHA:7 |
| Suleiman-El-Hattab Syndrome |
|
Thick eyebrow, Ventricular septal defect, Single transverse palmar crease, Highly arched eyebrow,... |
OMIM:618950 |
| Contractural Arachnodactyly, Congenital |
|
Hip contracture, Bowing of the long bones, Ventricular septal defect, Bicuspid aortic valve, Arac... |
OMIM:121050 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
Aortic regurgitation, Branchial fistula, Bowing of the long bones, Toe syndactyly, Ventricular se... |
ORPHA:261330 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Prominent fingertip pads, Ventricular septal defect, Overlapping toe, Increased nuchal translucen... |
OMIM:618494 |
| Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:617992 |
| 19P13.12 Microdeletion Syndrome |
|
Aortic regurgitation, Finger syndactyly, Toe clinodactyly, Ventricular septal defect, Sandal gap,... |
ORPHA:254346 |
| Lambotte Syndrome |
|
Intrauterine growth retardation, Ventricular septal defect, Preaxial foot polydactyly |
OMIM:245552 |
| Ventricular Septal Defect 3 |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:614432 |
| Pseudohypoparathyroidism, Type Ia |
|
Pseudohypoparathyroidism, Elevated circulating parathyroid hormone level, Hypogonadism, Hyperphos... |
OMIM:103580 |
| Hypophosphatasia |
|
Hypercalcemia, Anemia |
ORPHA:436 |
| Meckel Syndrome, Type 4 |
|
Encephalocele, Bowing of the long bones, Ventricular septal defect, Postaxial hand polydactyly, M... |
OMIM:611134 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentration, Splenomegal... |
OMIM:308240 |
| Maternal Uniparental Disomy Of Chromosome 6 |
|
Clitoral hypertrophy, Hydrocele testis, Increased serum testosterone level, Congenital adrenal hy... |
ORPHA:96181 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... |
ORPHA:216694 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Arachnodactyly, Ventricular septal defect, Mitral regurgitation, Talipes equinovarus, Attention d... |
OMIM:301039 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Death in infancy, Peau d'orange, Ventricular septal defect, Postaxial polydactyly, Patent ductus ... |
OMIM:614576 |
| 19Q13.11 Microdeletion Syndrome |
|
Finger syndactyly, Congenital hip dislocation, Ventricular septal defect, Toe syndactyly, Supernu... |
ORPHA:217346 |
| Rere-Related Neurodevelopmental Syndrome |
|
Ventricular septal defect, Postnatal growth retardation, Abnormal heart morphology, Hip dysplasia... |
ORPHA:494344 |
| Myh9-Related Disease |
|
Increased mean platelet volume, Giant platelets, Neutrophil inclusion bodies, Menorrhagia, Congen... |
ORPHA:182050 |
| Coffin-Siris Syndrome 7 |
|
Sparse scalp hair, Brachydactyly, Ventricular septal defect, Bicuspid aortic valve, Polyhydramnio... |
OMIM:618027 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Parathyroid hyperplasia, Elevated circulating parathyroid hormone level, Hypercalcemia, Hyperphos... |
OMIM:617994 |
| Split-Hand/Foot Malformation 1 |
|
Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly, Ectrodact... |
OMIM:183600 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Cryptorchidism, Elevated circulating creatinine concentration, Anemia, Hypoalbuminemia, Decreased... |
OMIM:608104 |
| Alg12-Cdg |
|
Overlapping fingers, Sandal gap, Ulnar deviation of the wrist, Edema, Polyhydramnios, Proximal pl... |
ORPHA:79324 |
| Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Hallux valgus, Absent eyebrow, Alopecia, Short metacarpal, Ventricular septal defect, Short statu... |
ORPHA:166035 |
| Double Outlet Right Ventricle |
|
Hypoparathyroidism, Hypocalcemia, Aplasia/Hypoplasia of the thymus |
ORPHA:3426 |
| Mosaic Trisomy 16 |
|
Syndactyly, Ventricular septal defect, Single transverse palmar crease, Large placenta, Patent du... |
ORPHA:1708 |
| Small Cell Carcinoma Of The Bladder |
|
Hypercalcemia |
ORPHA:284400 |
| Kapur-Toriello Syndrome |
|
Overlapping fingers, Ventricular septal defect, Single transverse palmar crease, Camptodactyly of... |
OMIM:244300 |
| Mosaic Trisomy 9 |
|
Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, Spina bifida, Polyhydra... |
ORPHA:99776 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Mild postnatal growth retardation, Lymphedema, Periorbital edema, Cutaneous finger syndactyly, Sh... |
OMIM:235510 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ... |
ORPHA:26793 |
| Developmental And Epileptic Encephalopathy 66 |
|
Ventricular septal defect, Dextrocardia, Synophrys, Clinodactyly of the 5th finger, Atrial septal... |
OMIM:618067 |
| Hand-Foot-Genital Syndrome |
|
Shortening of all middle phalanges of the fingers, Miscarriage, Ventricular septal defect, Proxim... |
ORPHA:2438 |
| Cardiac Valvular Dysplasia 1 |
|
Tricuspid regurgitation, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, ... |
OMIM:212093 |
| Tatton-Brown-Rahman Syndrome |
|
Tricuspid regurgitation, Ventricular septal defect, Mitral regurgitation, Horizontal eyebrow, Atr... |
OMIM:615879 |
| Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P... |
ORPHA:1686 |
| Leishmaniasis |
|
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, Leukopenia, Hypoalbuminemia, ... |
ORPHA:507 |
| Hermansky-Pudlak Syndrome 9 |
|
Leukopenia, Abnormal platelet aggregation, Thrombocytopenia |
OMIM:614171 |
| Cholera |
|
Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration |
ORPHA:173 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Short stature, Muscular ventricular septal defect, Low posterior hairline, Attention deficit hype... |
OMIM:619227 |
| Short-Rib Thoracic Dysplasia 12 |
|
Edema, Polyhydramnios, Bowing of the legs, Short palm, Neonatal death, Patent foramen ovale, Pate... |
OMIM:269860 |
| Neurodevelopmental Disorder With Language Delay And Seizures |
|
Growth delay, Ventricular septal defect, Attention deficit hyperactivity disorder |
OMIM:619908 |
| Lymphangiectasia, Pulmonary, Congenital |
|
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... |
OMIM:265300 |
| Keutel Syndrome |
|
Alopecia, Ventricular septal defect, Short stature, Pulmonary arterial hypertension, Short distal... |
ORPHA:85202 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Thrombocytopenia, Hyperammonemia, Anemia, Neutropenia |
ORPHA:289916 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Overlapping fingers, Ventricular septal defect, Short stature, Polyhydramnios, Rocker bottom foot... |
OMIM:301056 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Ventricular septal defect, Highly arched eyebrow, Postaxial polydactyly, Low anterior hairline, 2... |
ORPHA:404440 |
| Hypercalcemia, Infantile, 1 |
|
Hypercalcemia, Decreased circulating parathyroid hormone level |
OMIM:143880 |
| Pontocerebellar Hypoplasia, Type 17 |
|
Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Low anterior ... |
OMIM:619909 |
| Oculoauriculofrontonasal Syndrome |
|
Encephalocele, Ventricular septal defect |
ORPHA:398156 |
| Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect, Patent ductus arteriosus, Pedal edema, Sinus bradycardia, Distichiasis |
OMIM:126320 |
| Gm1 Gangliosidosis |
|
Ventricular septal defect, Short stature, Camptodactyly of finger, Congestive heart failure, Pate... |
ORPHA:354 |
| Kagami-Ogata Syndrome |
|
Ventricular septal defect, Polyhydramnios, Coxa valga, Long fingers, Patent ductus arteriosus, Li... |
OMIM:608149 |
| Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce... |
ORPHA:411634 |
| Transketolase Deficiency |
|
Ventricular septal defect, Proportionate short stature, Seborrheic dermatitis, Patent ductus arte... |
ORPHA:488618 |
| Lethal Congenital Contracture Syndrome 2 |
|
Polyhydramnios, Dilated cardiomyopathy, Ventricular septal defect, Edema |
OMIM:607598 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
| Aortic Arch Interruption |
|
Bicuspid aortic valve, Aortic valve atresia, Pedal edema, Aortopulmonary window, Absent pulse, Si... |
ORPHA:2299 |
| Non-Involuting Congenital Hemangioma |
|
Thrombocytopenia |
ORPHA:141179 |
| Late-Onset Isolated Acth Deficiency |
|
Hypoparathyroidism, Normocytic anemia, Decreased circulating cortisol level, Premature ovarian in... |
ORPHA:199299 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Macrocytic anemia, Hyperammonemia, Anemia, Leukopenia, Thrombocytopenia |
ORPHA:27 |
| Oncogenic Osteomalacia |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:352540 |
| Warsaw Breakage Syndrome |
|
Ventricular septal defect, Single transverse palmar crease, Postnatal growth retardation, 2-3 toe... |
OMIM:613398 |
| Robin Sequence-Oligodactyly Syndrome |
|
Clinodactyly of the 5th finger, Hand oligodactyly, Abnormal morphology of ulna, Abnormal metacarp... |
ORPHA:3104 |
| Diamond-Blackfan Anemia 7 |
|
Small hypothenar eminence, Ventricular septal defect, Polyhydramnios, Secundum atrial septal defe... |
OMIM:612562 |
| Platelet Disorder, Undefined |
|
Impaired platelet aggregation, Thrombocytopenia |
OMIM:173420 |
| Short Stature-Micrognathia Syndrome |
|
Rhizomelia, Ventricular septal defect, Short stature, Bowing of the legs, Coxa valga, Metaphyseal... |
OMIM:617164 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Abnormal circulating follicle-stimulating hormone concentration, Hypocalcemic seizures, Hyperphos... |
ORPHA:93325 |
| Genitopalatocardiac Syndrome |
|
Double outlet right ventricle, Ventricular septal defect, Transposition of the great arteries |
OMIM:231060 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Splenomegaly, Hyperammonemia, Anemia, Neutropenia, Thrombocytopenia |
ORPHA:79312 |
| Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis |
OMIM:300367 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Thrombocytopenia |
ORPHA:67048 |
| Lig4 Syndrome |
|
Pancytopenia, Cryptorchidism, Acute lymphoblastic leukemia, Type II diabetes mellitus, Micropenis... |
OMIM:606593 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... |
OMIM:267700 |
| Velocardiofacial Syndrome |
|
Hypoparathyroidism, Cryptorchidism, Hypocalcemia |
OMIM:192430 |
| Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Primary hyperparathyroidism, Hypermagnesemia, Hypercalcemia |
OMIM:145981 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Ventricular septal defect, Short stature, Postaxial hand polydactyly, Cone-shaped epiphyses of th... |
OMIM:615630 |
| Feingold Syndrome Type 1 |
|
Toe syndactyly, Short stature, Tricuspid stenosis, Short middle phalanx of the 5th finger, Short ... |
ORPHA:391641 |
| Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hypercalcemia, Splenomegaly, Primary hyperparathyroidism, Elevated circulating parath... |
OMIM:239200 |
| Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... |
OMIM:619802 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Sparse scalp hair, Death in infancy, Sparse eyelashes, Ventricular septal defect, Short stature, ... |
OMIM:616901 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612924 |
| Aicardi-Goutieres Syndrome 4 |
|
Splenomegaly, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly |
OMIM:610333 |
| Ulnar-Mammary Syndrome |
|
Abnormal morphology of the radius, Ventricular septal defect, Short stature, Camptodactyly of fin... |
ORPHA:3138 |
| Lethal Congenital Contracture Syndrome 10 |
|
Overriding aorta, Ventricular septal defect, Overlapping fingers, Cardiomegaly, Adducted thumb, H... |
OMIM:617022 |
| Chromosome 9P Deletion Syndrome |
|
Long toe, Ventricular septal defect, Sandal gap, Highly arched eyebrow, Tapered finger, Hallux va... |
OMIM:158170 |
| Craniofacioskeletal Syndrome |
|
Absent gallbladder, Hypospadias, Hypocalcemia, Cryptorchidism |
OMIM:300712 |
| Delpire-Mcneill Syndrome |
|
Ventricular septal defect, Hip dislocation |
OMIM:619083 |
| Split-Hand/Foot Malformation 6 |
|
Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly |
OMIM:225300 |
| Bone Marrow Failure Syndrome 4 |
|
Leukopenia, Thrombocytopenia, Anemia |
OMIM:618116 |
| Focal Dermal Hypoplasia |
|
Finger syndactyly, Alopecia, Toe syndactyly, Telangiectasia of the skin, Ventricular septal defec... |
ORPHA:2092 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Hypocalcemia |
ORPHA:746 |
| 3Mc Syndrome 1 |
|
Conjunctival telangiectasia, Ventricular septal defect, Single interphalangeal crease of fifth fi... |
OMIM:257920 |
| Diamond-Blackfan Anemia 11 |
|
Hypoplasia of the ulna, Bicuspid aortic valve, Short stature, Absent thumb, Unilateral radial apl... |
OMIM:614900 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Atrial septal defect, Umbilical hernia, Patent ductus arteriosus, Ventricular septal defect |
OMIM:619769 |
| Aase-Smith Syndrome I |
|
Slender finger, Death in infancy, Ventricular septal defect, Talipes equinovarus |
OMIM:147800 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612926 |
| Emanuel Syndrome |
|
Congenital hip dislocation, Ventricular septal defect, Truncus arteriosus, Patent ductus arterios... |
OMIM:609029 |
| Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Low anterior hairline, Short 5th finger, Cli... |
OMIM:220500 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia, Leukocytosis, Hypothyroidism, Hashimoto thyroiditis, Thrombocytopenia, Goiter |
ORPHA:83601 |
| Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Curly hair, Ventricular septal defect, Short stature, Highly arched eyebrow, Polyhydramnios, Low ... |
OMIM:617360 |
| Heart And Brain Malformation Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Wide anterior fontanel, Growt... |
OMIM:616920 |
| Isolated Split Hand-Split Foot Malformation |
|
Finger syndactyly, Split hand, Absent hand, Oligodactyly |
ORPHA:2440 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Death in infancy, Ventricular septal defect, Overlapping toe, Partial anomalous pulmonary venous ... |
OMIM:617478 |
| Addison Disease |
|
Normocytic anemia, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasi... |
ORPHA:85138 |
| Isovaleric Acidemia |
|
Leukopenia, Pancytopenia, Thrombocytopenia |
OMIM:243500 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Ventricular septal defect, Alopecia totalis, Pericardial effusion, ... |
OMIM:618775 |
| Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Hydrops fetalis, Ventricular septal defect, Abnormal tricuspid valve morphology, Polyhydramnios |
ORPHA:3405 |
| Bohring-Opitz Syndrome |
|
Syndactyly, Ventricular septal defect, Thick hair, Polyhydramnios, Supernumerary nipple, Short st... |
OMIM:605039 |
| C Syndrome |
|
Short metacarpal, Toe syndactyly, Ventricular septal defect, Short stature, Micromelia, Patent du... |
OMIM:211750 |
| Codas Syndrome |
|
Short metacarpal, Congenital hip dislocation, Ventricular septal defect, Short stature, Abnormal ... |
ORPHA:1458 |
| Dilated Cardiomyopathy With Ataxia |
|
Prolonged QT interval, Muscular ventricular septal defect, Dilated cardiomyopathy, Growth delay, ... |
ORPHA:66634 |
| Serkal Syndrome |
|
Growth delay, Ventricular septal defect, Pulmonic stenosis, Oligohydramnios |
ORPHA:139466 |
| Chromosome 1P36 Deletion Syndrome, Proximal |
|
Wolff-Parkinson-White syndrome, Broad eyebrow, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:619343 |
| Rapidly Involuting Congenital Hemangioma |
|
Thrombocytopenia |
ORPHA:141184 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Hypocalcemia |
OMIM:618476 |
| Stankiewicz-Isidor Syndrome |
|
Ventricular septal defect, Absent thumb, Short thumb, Patent ductus arteriosus, 2-3 toe syndactyl... |
OMIM:617516 |
| 22Q11.2 Duplication Syndrome |
|
Ventricular septal defect, Growth delay, Hypoplastic left heart, Transposition of the great arter... |
ORPHA:1727 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Wolff-Parkinson-White syndrome, Ventricular septal defect, Short stature, Progressive neurologic ... |
OMIM:614947 |
| Mosaic Variegated Aneuploidy Syndrome 2 |
|
Aortic regurgitation, Ventricular septal defect, Short stature, Rhizomelia, Single transverse pal... |
OMIM:614114 |
| Cohen Syndrome |
|
Finger syndactyly, Ventricular septal defect, Thick hair, Short stature, Arachnodactyly, Abnormal... |
ORPHA:193 |
| Noonan Syndrome 9 |
|
Curly hair, Short stature, Ventricular septal defect, Sparse eyebrow, Pulmonic stenosis |
OMIM:616559 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect, Low posterior hairline |
OMIM:214300 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Splenomegaly, Hypokalemia, Hypocalcemia |
OMIM:617913 |
| Nephrotic Syndrome, Type 11 |
|
Arachnodactyly, Ventricular septal defect, Partial duplication of thumb phalanx, Dilated cardiomy... |
OMIM:616730 |
| Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Ventricular septal defect, Attention deficit hyperactivity disorder |
OMIM:618504 |
| Stuve-Wiedemann Syndrome 2 |
|
Thrombocytopenia |
OMIM:619751 |
| Idiopathic Aplastic Anemia |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Thrombocytopenia |
ORPHA:88 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Pancytopenia, Elevated circulating creatine kinase concentration, Thrombocytopenia, Leukopenia, E... |
ORPHA:2785 |
| X Small Rings |
|
Toe syndactyly, Ventricular septal defect, Bicuspid aortic valve, Tapered finger, 2-3 toe syndact... |
ORPHA:96201 |
| Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hypocalcemic tetany, Hyperaldosteronism, Hypocalcemia, Hypomagnesemia |
ORPHA:73224 |
| Thrombocytopenia, Paris-Trousseau Type |
|
Thrombocytopenia |
OMIM:188025 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Ventricular septal defect, Bicuspid aortic valve, Abnormal hand morphology, Osteolysis involving ... |
ORPHA:371428 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Limb undergrowth, Intrauterine growth retardation, Ventricular septal defect, Single transverse p... |
ORPHA:79243 |
| Neu-Laxova Syndrome 1 |
|
Polyhydramnios, Micromelia, Calcaneovalgus deformity, Neonatal death, Patent foramen ovale, Finge... |
OMIM:256520 |
| Noonan Syndrome 10 |
|
Curly hair, Mitral stenosis, Ventricular septal defect, Short stature, Sparse eyebrow, Patent duc... |
OMIM:616564 |
| Gaucher Disease, Type Iii |
|
Splenomegaly, Pancytopenia, Thrombocytopenia |
OMIM:231000 |
| Distal Deletion 19P |
|
Long toe, Alopecia, Ventricular septal defect, Arachnodactyly, Tricuspid valve prolapse, Umbilica... |
ORPHA:96129 |
| Joubert Syndrome 14 |
|
Encephalocele, Ventricular septal defect, Highly arched eyebrow, Postaxial polydactyly, Meningoce... |
OMIM:614424 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Congenital hip dislocation, Ventricular septal defect, Rocker bottom foot, Calcaneovalgus deformi... |
ORPHA:3078 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules, Impaired coll... |
OMIM:187900 |
| Burn-Mckeown Syndrome |
|
Atrial septal defect, Ventricular septal defect, 2-3 toe syndactyly, Short stature |
OMIM:608572 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Thrombocytopenia, Neutropenia |
OMIM:603585 |
| Trisomy 1Q |
|
Toe syndactyly, Ventricular septal defect, Arachnodactyly, Polyhydramnios, Camptodactyly of finge... |
ORPHA:261344 |
| Noonan Syndrome 2 |
|
Curly hair, Mitral stenosis, Ventricular septal defect, Polyhydramnios, Short stature, Sparse eye... |
OMIM:605275 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hallux valgus, Flexion contracture of finger, Ventricular septal defect, Short stature, Rocker bo... |
OMIM:602782 |
| Costello Syndrome |
|
Ventricular septal defect, Short stature, Polyhydramnios, Abnormal hair morphology, Mitral valve ... |
ORPHA:3071 |
| Weiss-Kruszka Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Highly arched eyebrow, Single transverse palmar... |
OMIM:618619 |
| Noonan Syndrome 4 |
|
Curly hair, Ventricular septal defect, Short stature, Polyhydramnios, Sparse eyebrow, High anteri... |
OMIM:610733 |
| Mosaic Trisomy 1 |
|
Long toe, Broad toe, Toe syndactyly, Ventricular septal defect, Single transverse palmar crease, ... |
ORPHA:1692 |
| Babesiosis |
|
Splenomegaly, Leukopenia, Hemolytic anemia, Thrombocytopenia |
ORPHA:108 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Short stature, Ventricular s... |
OMIM:300998 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Syndactyly, Ventricular septal defect, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypop... |
OMIM:617895 |
| Trichohepatoenteric Syndrome 1 |
|
Aortic regurgitation, Curly hair, Brittle hair, Ventricular septal defect, Short stature, Polyhyd... |
OMIM:222470 |
| Baller-Gerold Syndrome |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Short stature, Aplasia/Hypoplasia of t... |
ORPHA:1225 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Refractory anemia, Leukopenia, Thrombocytopenia |
OMIM:231095 |
| 2Q31.1 Microdeletion Syndrome |
|
Synophrys, Abnormal tibia morphology, Low anterior hairline, Short palm, Clinodactyly of the 5th ... |
ORPHA:251014 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Short stature, Ventricular septal defect, Polyhydramnios, Postaxial polydactyly, Prea... |
OMIM:615503 |
| Congenital Toxoplasmosis |
|
Thrombocytopenia, Anemia |
ORPHA:858 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... |
OMIM:612576 |
| Autosomal Dominant Hypocalcemia |
|
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia |
ORPHA:428 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612925 |
| Beck-Fahrner Syndrome |
|
Hip dysplasia, Ventricular septal defect, Attention deficit hyperactivity disorder, Cardiomegaly |
OMIM:618798 |
| Macrophage Activation Syndrome |
|
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Splenomegaly, Increa... |
ORPHA:158061 |
| Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Abnormal circulating protein concentration, Anemia of inadequate producti... |
ORPHA:86839 |
| Fanconi Anemia, Complementation Group I |
|
Ventricular septal defect, Short stature, Absent thumb, Short thumb, Short 1st metacarpal, Hypopl... |
OMIM:609053 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Psoriasiform dermatitis, Recurrent skin infections, Multiple muscular ventricular septal defects,... |
OMIM:615508 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Thrombocytopenia, Anemia |
OMIM:615085 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, B lymphocytopenia, Neutropenia |
OMIM:150550 |
| Ogden Syndrome |
|
Ventricular septal defect, Broad hallux, Postnatal growth retardation, Fine hair, Cardiogenic sho... |
ORPHA:276432 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Hemolytic anemia, Diabetes mellitus, Leukocytosis, Hyperkalemia, Hypocalcemia, Thro... |
ORPHA:544482 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Secundum atrial septal defect, Complete atrioventricular canal defect,... |
OMIM:613854 |
| Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... |
ORPHA:35858 |
| Microphthalmia With Limb Anomalies |
|
Toe syndactyly, Sandal gap, Single transverse palmar crease, Abnormal eyelash morphology, Postnat... |
OMIM:206920 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Death in infancy, Ventricular septal defect, Pruritus, Hip dysplasia, Right ventricular hypertrophy |
OMIM:613404 |
| Primary Myelofibrosis |
|
Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatos... |
ORPHA:824 |
| Methimazole Embryofetopathy |
|
Intrauterine growth retardation, Ventricular septal defect, Polyhydramnios |
ORPHA:1923 |
| Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter... |
OMIM:108900 |
| Sengers Syndrome |
|
Premature ovarian insufficiency, Thrombocytopenia |
OMIM:212350 |
| 46,Xx Sex Reversal 5 |
|
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect |
OMIM:618901 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Sandal gap, 2-3 toe syndactyl... |
ORPHA:477817 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Splenomegaly, Reticulocytosis, Anemia, Thrombocytopenia |
OMIM:611490 |
| Oculodentodigital Dysplasia |
|
Brittle hair, Clinodactyly of the 5th finger, Sparse hair, Finger syndactyly, Short hallux, Aplas... |
ORPHA:2710 |
| Gitelman Syndrome |
|
Neoplasm of the pancreas, Maternal diabetes, Hypomagnesemia, Hypermagnesemia, Diabetic ketoacidos... |
ORPHA:358 |
| Relapsing Fever |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Elevated circu... |
ORPHA:91547 |
| Skraban-Deardorff Syndrome |
|
Ventricular septal defect, Sparse lateral eyebrow |
OMIM:617616 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Death in infancy, Ventricular septal defect, Oligohydramnios, Dehydration, Hip dysplasia, Atrial ... |
OMIM:208085 |
| Microphthalmia, Syndromic 9 |
|
Severe short stature, Ventricular septal defect, Short stature, Patent ductus arteriosus, Hypopla... |
OMIM:601186 |
| Isolated Agammaglobulinemia |
|
Anemia, Thrombocytopenia, Abnormal lymphocyte morphology, Abnormality of neutrophils |
ORPHA:229717 |
| Zellweger Syndrome |
|
Death in infancy, Short stature, Ventricular septal defect, Wide anterior fontanel, Epiphyseal st... |
ORPHA:912 |
| Omenn Syndrome |
|
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,... |
OMIM:603554 |
| Alagille Syndrome |
|
Hypoplasia of the ulna, Telangiectasia of the skin, Ventricular septal defect, Hypertension, Clin... |
ORPHA:52 |
| Hermansky-Pudlak Syndrome 5 |
|
Absent platelet dense granules, Metrorrhagia, Impaired ADP-induced platelet aggregation, Menorrha... |
OMIM:614074 |
| Seckel Syndrome 9 |
|
Short stature, Ventricular septal defect, Polyhydramnios, Talipes equinovarus, Atrial septal defe... |
OMIM:616777 |
| Ellis Van Creveld Syndrome |
|
Abnormal hair quantity, Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology,... |
ORPHA:289 |
| Chromosome 15Q25 Deletion Syndrome |
|
Ventricular septal defect, Dextrocardia, Short stature, Long fingers, Synophrys, Growth delay, Co... |
OMIM:614294 |
| Craniofacial Dyssynostosis With Short Stature |
|
Patent ductus arteriosus, Ventricular septal defect, Short stature |
OMIM:218350 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Ventricular septal defect, Supernumerary nipple, Patent ductus arteriosus, Postaxial hand polydac... |
ORPHA:2519 |
| Weill-Marchesani Syndrome 2 |
|
Short metacarpal, Ventricular septal defect, Short stature, Proportionate short stature, Congesti... |
OMIM:608328 |
| Von Willebrand Disease, Type 3 |
|
Impaired platelet aggregation, Menorrhagia, Thrombocytopenia |
OMIM:277480 |
| Drug-Induced Lupus Erythematosus |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:231111 |
| Thrombocytopenia 3 |
|
Thrombocytopenia, Decreased mean platelet volume |
OMIM:273900 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p... |
OMIM:603909 |
| Radio-Tartaglia Syndrome |
|
Thick eyebrow, Ventricular septal defect, Highly arched eyebrow, Long eyebrows, Tapered finger, S... |
OMIM:619312 |
| Fanconi Anemia, Complementation Group B |
|
Death in infancy, Ventricular septal defect, Absent thumb, Patent ductus arteriosus, Bilateral ra... |
OMIM:300514 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Tibial bowing, Shoulder dislocation, Short phalanx of finger, Dislocated radial head, Bilateral s... |
OMIM:143095 |
| Non-Functioning Paraganglioma |
|
Paraganglioma of head and neck, Hypercalcemia, Paraganglioma |
ORPHA:94080 |
| 15Q14 Microdeletion Syndrome |
|
Atrial septal defect, Short stature, Ventricular septal defect, Acne |
ORPHA:261190 |
| Pontocerebellar Hypoplasia, Type 8 |
|
Ventricular septal defect, Synophrys, Long eyelashes, Talipes equinovarus, Patent foramen ovale, ... |
OMIM:614961 |
| Spondylo-Ocular Syndrome |
|
Abnormal eyebrow morphology, Ventricular septal defect, Short stature, Disproportionate short-tru... |
ORPHA:85194 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Atrial septal defect, Mitral regurgitation, Ventricular septal defect, Postaxial polydactyly |
OMIM:603387 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Hypothyroidism, Splenomegaly, Increased circula... |
ORPHA:465508 |
| Scimitar Syndrome |
|
Left-to-right shunt, Ventricular septal defect, Dextrocardia, Mitral atresia, Heart block, Conges... |
ORPHA:185 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Coombs-positive hemolytic anemia, Ne... |
OMIM:304790 |
| Cat Eye Syndrome |
|
Ventricular septal defect, Short stature, Absent radius, Patent ductus arteriosus, Hypoplastic le... |
OMIM:115470 |
| Multiple Endocrine Neoplasia, Type I |
|
Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Hypercalcemia, ... |
OMIM:131100 |
| Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Thrombocytopenia, Reticulocytopenia... |
OMIM:600901 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Congenital hip dislocation, Ventricular septal defect, Bicuspid aortic valve, Supernumerary nippl... |
ORPHA:457279 |
| Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Toe syndactyly, Ventricular septal defect, Dextrocardia, Short stature, Bilateral single transver... |
OMIM:619657 |
| Short Stature And Facioauriculothoracic Malformations |
|
Ventricular septal defect, Proportionate short stature |
OMIM:609654 |
| Specific Granule Deficiency 2 |
|
Absent neutrophil specific granules, Thrombocytopenia, Anemia, Neutropenia |
OMIM:617475 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
| Koolen-De Vries Syndrome |
|
Prominent fingertip pads, Ventricular septal defect, Bicuspid aortic valve, Eczema, Abnormality o... |
OMIM:610443 |
| Fanconi Anemia, Complementation Group A |
|
Male infertility, Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Thrombocytopenia,... |
OMIM:227650 |
| Liver Disease, Severe Congenital |
|
Hyponatremia, Hypospadias, Elevated circulating alpha-fetoprotein concentration, Biliary hyperpla... |
OMIM:619991 |
| Uremic Pruritus |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
| Trisomy 18 |
|
Ventricular septal defect, Short stature, Spina bifida, Bilateral single transverse palmar crease... |
ORPHA:3380 |
| Eisenmenger Syndrome |
|
Ventricular tachycardia, Pedal edema, Aortopulmonary window, Bacterial endocarditis, Supraventric... |
ORPHA:97214 |
| Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Increased circulating ferritin concentration, Thrombocytopenia, Hepatosplenomegaly |
ORPHA:210136 |
| Emanuel Syndrome |
|
Congenital hip dislocation, Ventricular septal defect, Truncus arteriosus, Patent ductus arterios... |
ORPHA:96170 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Elevated circulating C-reactive protein concentration, B lymphocytopenia... |
OMIM:618048 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin co... |
OMIM:603553 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Patellar hypoplasia, Hand... |
OMIM:609945 |
| Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... |
ORPHA:325124 |
| Distal Duplication 5Q |
|
Hypoplasia of the ulna, Ventricular septal defect, Eczema, Dextrocardia, Short stature, Absent th... |
ORPHA:96097 |
| Catel-Manzke Syndrome |
|
Short humerus, Short metacarpal, Overriding aorta, Ventricular septal defect, Dextrocardia, Singl... |
OMIM:616145 |
| Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Brachydactyly, Ventricular septal defect, Short stature, Dextrotransposition of the great arteries |
OMIM:619995 |
| Weill-Marchesani Syndrome 1 |
|
Ventricular septal defect, Short stature, Proportionate short stature, Patent ductus arteriosus, ... |
OMIM:277600 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Pheochromocytoma, Hypercalcemia |
OMIM:171420 |
| Autosomal Recessive Robinow Syndrome |
|
Abnormal tricuspid valve morphology, Clinodactyly of the 5th finger, Atrial septal defect, Bilate... |
ORPHA:1507 |
| King-Denborough Syndrome |
|
Ventricular septal defect, Short stature |
OMIM:619542 |
| Criss-Cross Heart |
|
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... |
ORPHA:1461 |
| Systemic Lupus Erythematosus |
|
Hemolytic anemia, Thrombocytopenia, Leukopenia |
OMIM:152700 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Death in infancy, Psoriasiform dermatitis, Ventricular septal defect, Polyhydramnios, Hematochezi... |
OMIM:243150 |
| Diabetic Embryopathy |
|
Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries, Spinal dysra... |
ORPHA:1926 |
| Cerebellofaciodental Syndrome |
|
Ventricular septal defect, Short stature, Single transverse palmar crease, Tapered finger, Sparse... |
OMIM:616202 |
| 22Q11.2 Deletion Syndrome |
|
Hypoparathyroidism, Hyperthyroidism, Hypospadias, Abnormality of thrombocytes, Cryptorchidism, Sp... |
ORPHA:567 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Short attention span, Ventricular septal defect, Sandal gap, Widow's peak, Small hand, 2-3 toe sy... |
OMIM:619229 |
| Pentalogy Of Cantrell |
|
Encephalocele, Ventricular septal defect, Abnormal pericardium morphology, Abnormal tibia morphol... |
ORPHA:1335 |
| Isotretinoin-Like Syndrome |
|
Lymphopenia, Hypocalcemia |
ORPHA:2306 |
| Cholesteryl Ester Storage Disease |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Adrenal calcification, Bone-marrow... |
OMIM:278000 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Congenital hip dislocation, Polyhydramnios, Cardiomegaly, Dextrotransposition of the great arteri... |
OMIM:306955 |
| Duane-Radial Ray Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Upper limb muscle hypoplasia, Ventricular septal defect, Radi... |
OMIM:607323 |
| Sifrim-Hitz-Weiss Syndrome |
|
Ventricular septal defect, Short stature, Tapered finger, Patent ductus arteriosus, Flat acetabul... |
OMIM:617159 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia |
OMIM:613839 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Ventricular septal defect, Sparse eyelashes, Supernumerary nipple, Absent eyelashes, Patent ductu... |
OMIM:106260 |
| X-Linked Lissencephaly With Abnormal Genitalia |
|
Death in infancy, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:452 |
| Right Atrial Isomerism |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Complete... |
OMIM:208530 |
| Propionic Acidemia |
|
Pancytopenia, Hyperammonemia, Anemia, Hyperglycinemia, Neutropenia, Thrombocytopenia |
OMIM:606054 |
| Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Ventricular septal defect, Short stature, Patent ductus arteriosus, Growth delay, Atrial septal d... |
ORPHA:457193 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Bicuspid aortic valve, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, La... |
OMIM:271640 |
| Cardiofacioneurodevelopmental Syndrome |
|
Ventricular septal defect, Pulmonic stenosis, Camptodactyly, Clinodactyly of the 5th finger, Atri... |
OMIM:619123 |
| Snakebite Envenomation |
|
Hyponatremia, Hypopituitarism, Thrombocytopenia |
ORPHA:449285 |
| Teebi-Shaltout Syndrome |
|
Syndactyly, Ulnar deviation of the hand, Ventricular septal defect, Slow-growing hair, Highly arc... |
OMIM:272950 |
| Aicardi-Goutieres Syndrome 5 |
|
Thrombocytopenia |
OMIM:612952 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Autoimmune hemolytic anemia, Thrombocytopenia |
OMIM:616576 |
| Acute Adrenal Insufficiency |
|
Normocytic anemia, Hyponatremia, Decreased circulating cortisol level, Decreased female libido, H... |
ORPHA:95409 |
| Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Metaphyseal dysplasia, Short metacarpal, Brachydactyly, Sparse eyelashes, Ventricular septal defe... |
OMIM:250410 |
| Hypophosphatasia, Infantile |
|
Elevated plasma pyrophosphate, Hypercalcemia, Anemia |
OMIM:241500 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Intracranial hemorrhage, Hypertens... |
ORPHA:369929 |
| Jacobsen Syndrome |
|
Death in infancy, Broad hallux phalanx, Finger syndactyly, Ventricular septal defect, Eczema, Spi... |
ORPHA:2308 |
| Meier-Gorlin Syndrome 7 |
|
2-4 finger syndactyly, Ventricular septal defect, Short stature, Bowing of the legs, Heart block,... |
OMIM:617063 |
| Infantile Myofibromatosis |
|
Neoplasm of the pancreas, Hypercalcemia |
ORPHA:2591 |
| Exercise-Induced Malignant Hyperthermia |
|
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypocalcemia... |
ORPHA:466650 |
| Frank-Ter Haar Syndrome |
|
Bowing of the long bones, Ventricular septal defect, Acne, Secundum atrial septal defect, Wide an... |
OMIM:249420 |
| Maternal Phenylketonuria |
|
Ventricular septal defect, Bifid distal phalanx of the thumb, Clinodactyly, Abnormal heart morpho... |
ORPHA:2209 |
| Donnai-Barrow Syndrome |
|
Short sternum, Umbilical hernia, Wide anterior fontanel, Ventricular septal defect |
OMIM:222448 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Hyperammonemia, Leukopenia, Hyperglycinemia, Neutropenia, Thrombocytopenia |
OMIM:251000 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Primary hyperparathyroidism, Hypermagnesemia, Hypercalcemia, Hypophosphatemia |
OMIM:600740 |
| Congenital Alveolar Capillary Dysplasia |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Pulmonary valve atres... |
ORPHA:210122 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Brittle hair, Ventricular septal defect, Sparse eyelashes, Abnormality of hair texture, Growth de... |
OMIM:234050 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Medial flaring of the eyebrow, Short stature, Ventricular septal defect, Arachnodactyly, Sandal g... |
OMIM:617602 |
| Cartilage-Hair Hypoplasia |
|
Hypocalcemia, Anemia, Neutropenia |
ORPHA:175 |
| Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Hepatosplenomegaly, Monocyto... |
OMIM:619644 |
| Methylmalonic Aciduria, Cblb Type |
|
Methylmalonic acidemia, Pancytopenia, Hyperammonemia, Anemia, Hyperglycinemia, Neutropenia, Throm... |
OMIM:251110 |
| Aggressive Systemic Mastocytosis |
|
Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Increased propor... |
ORPHA:98850 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Single transverse palmar crease, Polyhydramnios, Tibial bowing, Hypoplastic iliac wing, Atrial se... |
ORPHA:96334 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Pancytopenia, Small scrotum, Bile duct proliferation, Hypocalcemia, Hypoalbuminemia, Unconjugated... |
OMIM:613658 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Agranulocytosis, Hemophagocytosis, ... |
OMIM:301078 |
| Mckusick-Kaufman Syndrome |
|
Finger syndactyly, Ventricular septal defect, Short stature, Tarsal synostosis, Patent ductus art... |
ORPHA:2473 |
| Meacham Syndrome |
|
Death in infancy, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent ductus a... |
OMIM:608978 |
| Cornelia De Lange Syndrome 1 |
|
Single transverse palmar crease, Micromelia, Proximal placement of thumb, Synophrys, Clinodactyly... |
OMIM:122470 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Aortic regurgitation, Death in infancy, Tricuspid regurgitation, Ventricular septal defect, Palpe... |
OMIM:614866 |
| Myhre Syndrome |
|
Hypoplastic iliac wing, Sparse hair, Atrial septal defect, Short stature, Pericardial effusion, P... |
OMIM:139210 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Bicuspid aortic valve, Short palm, Clinodactyly of the 5th finger, Atrioventricular canal defect,... |
ORPHA:508498 |
| Mgat2-Cdg |
|
Ventricular septal defect, Patent ductus arteriosus, Hydrops fetalis, Abnormal heart morphology, ... |
ORPHA:79329 |
| Myotonic Dystrophy 1 |
|
Hypogonadism, Cholelithiasis, Testicular atrophy |
OMIM:160900 |
| Ethylene Glycol Poisoning |
|
Hyperkalemia, Hypocalcemia |
ORPHA:31826 |
| Coffin-Siris Syndrome 4 |
|
Sparse scalp hair, Ventricular septal defect, Mitral atresia, Short stature, Patent ductus arteri... |
OMIM:614609 |
| Codas Syndrome |
|
Short humerus, Short metacarpal, Congenital hip dislocation, Short stature, Ventricular septal de... |
OMIM:600373 |
| Ciliary Dyskinesia, Primary, 30 |
|
Situs inversus totalis, Ventricular septal defect, Dextrocardia |
OMIM:616037 |
| Sea-Blue Histiocytosis |
|
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis |
ORPHA:158029 |
| Gamma-Heavy Chain Disease |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopenia, Abnorma... |
ORPHA:100026 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:620066 |
| Wrinkly Skin Syndrome |
|
Scapular winging, Congenital hip dislocation, Short stature, Short nail, Wide anterior fontanel, ... |
OMIM:278250 |
| Immune Thrombocytopenia |
|
Thrombocytopenia |
ORPHA:3002 |
| Tetramelic Monodactyly |
|
Split foot, Split hand, Foot monodactyly, Hand monodactyly |
OMIM:187510 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Aortic regurgitation, Curly hair, Sparse scalp hair, Ventricular septal defect, Eczema, Polyhydra... |
OMIM:607721 |
| Limb-Mammary Syndrome |
|
Syndactyly, Alopecia, Psoriasiform dermatitis, Absent nipple, Toe syndactyly, Sparse eyebrow, 3-4... |
ORPHA:69085 |
| Teebi Hypertelorism Syndrome 1 |
|
Short stature, Ventricular septal defect, Highly arched eyebrow, Widow's peak, Small hand, Broad ... |
OMIM:145420 |
| Absent Radius-Anogenital Anomalies Syndrome |
|
Hypoplasia of the radius, Ectrodactyly, Oligodactyly, Oligohydramnios |
ORPHA:3016 |
| Tbck-Related Intellectual Disability Syndrome |
|
Broad toe, Thick eyebrow, Ventricular septal defect, Eczema, Synophrys, 2-3 toe syndactyly, Cogni... |
ORPHA:488632 |
| Smith-Kingsmore Syndrome |
|
Cryptorchidism, Thrombocytopenia |
OMIM:616638 |
| Beaulieu-Boycott-Innes Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, High anterior hairline |
OMIM:613680 |
| Dysosteosclerosis |
|
Abnormal metaphysis morphology, Ventricular septal defect, Short stature, Coarse metaphyseal trab... |
ORPHA:1782 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Sparse scalp hair, Finger syndactyly, Overlapping fingers, Ventricular septal defect, Single tran... |
ORPHA:464738 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Elevated creatine kinase after exercise, Hypercalcemia |
ORPHA:284426 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Myeloproliferative disorde... |
ORPHA:3226 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Ventricular septal defect, Calcaneal epiphyseal stippling, Proportionate short stature, Postnatal... |
ORPHA:79345 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Pancytopenia, Aplastic anemia, Cryptorchidism, Leukopenia, Thrombocytopenia |
OMIM:613990 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Syndactyly, Tricuspid regurgitation, Ventricular septal defect, Hypoplastic right heart, Short st... |
OMIM:616894 |
| Tufted Angioma |
|
Anemia, Thrombocytopenia |
ORPHA:1063 |
| Pseudotrisomy 13 Syndrome |
|
Encephalocele, Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, P... |
OMIM:264480 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M... |
OMIM:235400 |
| Laubry-Pezzi Syndrome |
|
Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab... |
ORPHA:99094 |
| De Barsy Syndrome |
|
Congenital hip dislocation, Ventricular septal defect, Short stature, Postnatal growth retardatio... |
ORPHA:2962 |
| Autosomal Dominant Coarctation Of Aorta |
|
Patent ductus arteriosus, Hypoplastic left heart, Ventricular septal defect |
ORPHA:1455 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Episodic hemolytic anemia, Increased blood urea nitrogen, Hypercalcemia, Delayed puberty |
ORPHA:251004 |
| Cog4-Cdg |
|
Hypercholesterolemia, Thrombocytopenia, Hepatosplenomegaly |
ORPHA:263501 |
| Alg9-Cdg |
|
Hydrops fetalis, Right ventricular dilatation, Abnormal left ventricular outflow tract morphology... |
ORPHA:79328 |
| Lymphatic Malformation 6 |
|
Genital edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Periorbital edema,... |
OMIM:616843 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Ventricular septal defect, Broad hallux, Postnatal growth retardation, Slender finger, Small hand... |
ORPHA:251028 |
| Acrofacial Dysostosis 1, Nager Type |
|
Aplasia/Hypoplasia of the thumb, Sparse lower eyelashes, Absent lower eyelashes, Foot oligodactyl... |
OMIM:154400 |
| Lymphedema-Distichiasis Syndrome |
|
Predominantly lower limb lymphedema, Ventricular septal defect, Nonimmune hydrops fetalis, Lymphe... |
OMIM:153400 |
| Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion of CD4-p... |
ORPHA:101096 |
| Ogden Syndrome |
|
Congenital hip dislocation, Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, L... |
OMIM:300855 |
| Larsen Syndrome |
|
Short metacarpal, Ventricular septal defect, Short nail, Short stature, Spatulate thumbs, Elbow d... |
OMIM:150250 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Recurrent cutaneous abscess formation, Lumbar hypertrichosis, Ventricular septal defect, Overlapp... |
ORPHA:163956 |
| Rubinstein-Taybi Syndrome 1 |
|
Single transverse palmar crease, Polyhydramnios, Low anterior hairline, Hypoplastic iliac wing, A... |
OMIM:180849 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Ventricular septal defect, Cardiomegaly, Postnatal growth retardation, Patent ductus arteriosus, ... |
ORPHA:96191 |
| Braddock-Carey Syndrome 2 |
|
Thrombocytopenia |
OMIM:619981 |
| Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Ventricular septal defect, Short stature, Proximal placement of thumb, Preaxial hand polydactyly,... |
OMIM:610536 |
| Agammaglobulinemia 9, Autosomal Recessive |
|
Thrombocytopenia, Absent circulating B cells |
OMIM:619693 |
| Glucose-Galactose Malabsorption |
|
Hypernatremia, Hypercalcemia |
ORPHA:35710 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Aortic regurgitation, Ventricular septal defect, Polyhydramnios, Tapered finger, Patent ductus ar... |
ORPHA:464311 |
| Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Ventricular septal defect, Biventricular hypertrophy, Hypertension, Second degree atrioventricula... |
OMIM:615474 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Aplasia of the thymus, Thyroiditis, T lymphocytopenia, Coo... |
ORPHA:83471 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Absent eyebrow, Alopecia, Severe short stature, Abnormal pelvis bone morphology, Eczema, Abnormal... |
ORPHA:2273 |
| Digeorge Syndrome |
|
Parathyroid agenesis, Decreased circulating parathyroid hormone level, Thrombocytopenia, Splenome... |
OMIM:188400 |
| Truncus Arteriosus |
|
Aortic regurgitation, Tachycardia, Pulmonary edema, Ventricular septal defect, Abnormal heart val... |
ORPHA:3384 |
| Cerebrocostomandibular Syndrome |
|
Death in infancy, Ventricular septal defect, Short stature, Spina bifida, Myelomeningocele, Menin... |
ORPHA:1393 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Short stature, Ventricular septal defect, Supernumerary nipple, Sandal gap, Sparse eyebrow, 3-4 f... |
OMIM:612530 |
| Neonatal Lupus Erythematosus |
|
Hemolytic anemia, Pancytopenia, Aplastic anemia, Splenomegaly, Anemia, Neutropenia, Thrombocytopenia |
ORPHA:398124 |
| Van Esch-O'Driscoll Syndrome |
|
Ventricular septal defect, Short stature, Pulmonary valve atresia, Growth delay, Short middle pha... |
OMIM:301030 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Schistocytosis, Elevated circulating creatinine concentration, Microangiopathic ... |
OMIM:274150 |
| Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Leukocytosis, Hyperammonemia, Anemia, Leukopenia, Hypoalbuminemia... |
ORPHA:292 |
| Marshall-Smith Syndrome |
|
Brittle hair, Synophrys, Distal widening of metacarpals, Coxa vara, Death in childhood, Sparse ha... |
OMIM:602535 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Increased nuchal translucency, Abnormal heart m... |
ORPHA:453499 |
| Down Syndrome |
|
Short palm, Ventricular septal defect, Short stature, Single transverse palmar crease, Sandal gap... |
OMIM:190685 |
| Griscelli Syndrome |
|
Abnormality of neutrophils, Splenomegaly, Leukopenia, Abnormal circulating lipid concentration, T... |
ORPHA:381 |
| Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Thrombocytopenia |
OMIM:612783 |
| Diamond-Blackfan Anemia 12 |
|
Ventricular septal defect, Triphalangeal thumb |
OMIM:615550 |
| Lissencephaly 9 With Complex Brainstem Malformation |
|
Ventricular septal defect, Short stature |
OMIM:618325 |
| Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Polyhydramnios, Car... |
ORPHA:3472 |
| Adams-Oliver Syndrome 1 |
|
Encephalocele, Alopecia, Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Supern... |
OMIM:100300 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Tachycardia, Ventricular septal defect, Retinal hemorrhage, Growth delay, Hypertension, Bradycard... |
OMIM:614653 |
| Recombinant 8 Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Abnormal hair morphology, Patent ductus arter... |
ORPHA:96167 |
| Cardiac-Urogenital Syndrome |
|
Cor triatrium sinister, Tachycardia, Ventricular septal defect, Dextrocardia, Coronary sinus enla... |
OMIM:618280 |
| Yuan-Harel-Lupski Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Sandal gap, Clinodactyly of the 5th finger, Dou... |
OMIM:616652 |
| Hepatoportal Sclerosis |
|
Hypersplenism, Splenomegaly, Anemia, Leukopenia, Hypoalbuminemia, Hyperbilirubinemia, Thrombocyto... |
ORPHA:64743 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Ventricular septal defect, Dysplastic pulmonary valve, Attention deficit hyperactivity disorder, ... |
OMIM:619103 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Ventricular septal defect, Single transverse palmar crease, 2-3 toe syndactyly, Sparse hair, Atri... |
OMIM:616449 |
| Schimke Immunoosseous Dysplasia |
|
Pancytopenia, Bilateral cryptorchidism, Thrombocytopenia, Elevated circulating thyroid-stimulatin... |
OMIM:242900 |
| Fibrous Dysplasia Of Bone |
|
Hyperthyroidism, Precocious puberty in females, Diabetes mellitus, Elevated circulating growth ho... |
ORPHA:249 |
| Fetal Gaucher Disease |
|
Splenomegaly, Abnormality of the spleen, Pancytopenia, Thrombocytopenia |
ORPHA:85212 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Ventricular septal defect, Tapered finger, Postnatal growth retardation, Coxa valga, Growth delay... |
OMIM:301040 |
| Chops Syndrome |
|
Curly hair, Ventricular septal defect, Thick hair, Short stature, Patent ductus arteriosus, Synop... |
OMIM:616368 |
| Opitz Gbbb Syndrome |
|
Ventricular septal defect, Wide anterior fontanel, Widow's peak, Growth delay, Umbilical hernia |
OMIM:300000 |
| Coffin-Siris Syndrome |
|
Sparse scalp hair, Thick eyebrow, Ventricular septal defect, Postnatal growth retardation, Patent... |
ORPHA:1465 |
| Myopathy With Extrapyramidal Signs |
|
Growth delay, Ventricular septal defect |
OMIM:615673 |
| 8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Congenital hip dislocation, Single transverse palmar crease, Micromelia, Finger c... |
ORPHA:508488 |
| Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts |
|
Split foot, Split hand, Hand monodactyly |
OMIM:183800 |
| Specc1L-Related Hypertelorism Syndrome |
|
Finger syndactyly, Ventricular septal defect, Highly arched eyebrow, Patent ductus arteriosus, Wi... |
ORPHA:1519 |
| Stormorken Syndrome |
|
Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Anemia, Hypopl... |
OMIM:185070 |
| Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Pancreatic steatosis, Cryptorchidism, Thro... |
OMIM:617052 |
| Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, ... |
ORPHA:3427 |
| Acute Promyelocytic Leukemia |
|
Pancytopenia, Metrorrhagia, Thrombocytopenia, Leukocytosis, Leukopenia, Neutropenia, Anemia |
ORPHA:520 |
| Lateral Meningocele Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Short stature, Patent ductus arteriosus, Mening... |
OMIM:130720 |
| Gollop-Wolfgang Complex |
|
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... |
ORPHA:1986 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Single transverse palmar crease, Synophrys, Prominent fingertip pads, Atri... |
OMIM:612474 |
| Limb Body Wall Complex |
|
Encephalocele, Duplication of hand bones, Ventricular septal defect, Broad hallux, Spina bifida, ... |
ORPHA:2369 |
| Postaxial Oligodactyly, Tetramelic |
|
Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat... |
OMIM:176240 |
| Trichohepatoneurodevelopmental Syndrome |
|
Curly hair, Ventricular septal defect, Overlapping toe, Polyhydramnios, Pruritus, Patent ductus a... |
OMIM:618268 |
| Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... |
OMIM:109730 |
| Tularemia |
|
Thrombocytopenia, Leukocytosis, Anemia |
ORPHA:3392 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Aortic regurgitation, Hallux valgus, Toe syndactyly, Ventricular septal defect, Eczema, Short sta... |
ORPHA:464306 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypoparathyroidism, Hypercalcemia, Hypophosphatemia |
OMIM:156400 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Double outlet left ventricle, Ventricular septal defect, Patent foramen ovale, Congenital defect ... |
ORPHA:2255 |
| Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Thrombocytopenia, Reticulocytopenia... |
OMIM:227645 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopenia |
OMIM:605432 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Postaxial polydactyly, Ventricular septal defect, Polyhydramnios |
OMIM:219730 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, A... |
ORPHA:158048 |
| Hennekam Syndrome |
|
Splenomegaly, Lymphopenia, Hypocalcemia |
ORPHA:2136 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Elevated circulating creatine kinase concentration, Hypophosphatemia, Anemia, Hypomagnesemia, Hyp... |
OMIM:619743 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Ulnar deviation of the hand, Ventricular septal defect, Single transverse palmar crease, Rocker b... |
OMIM:214100 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Ventricular septal defect, Short stature, Proximal placement of thumb, Coxa valga, Postnatal grow... |
OMIM:212066 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Double outlet left ventricle, Ventricular septal defect, Patent foramen ovale, Patent ductus arte... |
OMIM:600001 |
| Congenital Disorder Of Glycosylation, Type It |
|
Tachycardia, Ventricular septal defect, Short stature, Sudden cardiac death, Cardiomegaly, Dilate... |
OMIM:614921 |
| Fanconi Anemia, Complementation Group N |
|
Postnatal growth retardation, Short thumb, Ventricular septal defect |
OMIM:610832 |
| 16Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal hair pattern, Highly arched eyebrow, Proximal placement of th... |
ORPHA:261250 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Thrombocytopenia |
OMIM:259710 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Methylmalonic acidemia, Pancytopenia, Megaloblastic anemia, Hyperhomocystinemia, Anemia, Cystathi... |
OMIM:277380 |
| Mullegama-Klein-Martinez Syndrome |
|
Short stature, Curly eyelashes, Low anterior hairline, Hypoplastic left heart, Apical muscular ve... |
OMIM:301022 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Splenomegaly, Hypocalcemia, Anemia, Hypophosphatemia |
ORPHA:667 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Ventricular septal defect, Short stature, Highly arched eyebrow, Supernumerary nipple, Patent duc... |
OMIM:618454 |
| Phelan-Mcdermid Syndrome |
|
Ventricular septal defect, Palpebral edema, Lymphedema, Patent ductus arteriosus, 2-3 toe syndact... |
OMIM:606232 |
| Aarskog-Scott Syndrome |
|
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... |
OMIM:305400 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
| Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Short stature |
ORPHA:52055 |
| Brain-Lung-Thyroid Syndrome |
|
Short attention span, Ventricular septal defect, Short stature, Growth delay, Abnormal cardiac se... |
ORPHA:209905 |
| Syndromic Diarrhea |
|
Aortic regurgitation, Hypopigmentation of hair, Brittle hair, Ventricular septal defect, Bicuspid... |
ORPHA:84064 |
| Dengue Fever |
|
Leukopenia, Hypoproteinemia, Thrombocytopenia |
ORPHA:99828 |
| Diets-Jongmans Syndrome |
|
Short stature, Ventricular septal defect, Polyhydramnios, Hip dysplasia, Attention deficit hypera... |
OMIM:618846 |
| Robinow Syndrome |
|
Syndactyly, Brachydactyly, Ventricular septal defect, Short stature, Bifid distal phalanx of the ... |
ORPHA:97360 |
| Goldberg-Shprintzen Syndrome |
|
Aortic regurgitation, Ventricular septal defect, Highly arched eyebrow, Tapered finger, Synophrys... |
OMIM:609460 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Pancreatic adenocarcinoma, Hypercalcemia, Testicular neoplasm, Primary hyperparathyroidism, Abnor... |
ORPHA:99880 |
| Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities |
|
Thrombocytopenia |
OMIM:616577 |
| Distal 22Q11.2 Microduplication Syndrome |
|
Branchial fistula, Tricuspid regurgitation, Ventricular septal defect, Palpebral edema, Toe synda... |
ORPHA:261337 |
| Pseudo-Torch Syndrome 3 |
|
Increased circulating ferritin concentration, Leukocytosis, Congenital thrombocytopenia, Anemia |
OMIM:618886 |
| Alg8-Cdg |
|
Hyponatremia, Thrombocytopenia, Anemia |
ORPHA:79325 |
| Diamond-Blackfan Anemia 5 |
|
Ventricular septal defect, Short stature |
OMIM:612528 |
| Diffuse Alveolar Hemorrhage |
|
Thrombocytopenia, Leukocytosis, Elevated circulating creatinine concentration, Anemia |
ORPHA:90060 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Hepatosp... |
ORPHA:331206 |
| Fanconi Anemia, Complementation Group F |
|
Decreased response to growth hormone stimulation test, Cryptorchidism, Thrombocytopenia, Leukopen... |
OMIM:603467 |
| Hajdu-Cheney Syndrome |
|
Thick eyebrow, Ventricular septal defect, Short nail, Short stature, Patent ductus arteriosus, Sy... |
OMIM:102500 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Anemia, Hypoalb... |
ORPHA:540 |
| Acquired Purpura Fulminans |
|
Elevated circulating C-reactive protein concentration, Thrombocytopenia |
ORPHA:49566 |
| Holocarboxylase Synthetase Deficiency |
|
Hyperammonemia, Thrombocytopenia |
ORPHA:79242 |
| Apert Syndrome |
|
Syndactyly, Finger syndactyly, Overriding aorta, Ventricular septal defect, Acne, Limited elbow m... |
OMIM:101200 |
| Kapur-Toriello Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
ORPHA:2328 |
| Vipoma |
|
Neoplasm of the pancreas, Diabetes mellitus, Follicular thyroid carcinoma, Elevated circulating g... |
ORPHA:97282 |
| Ulnar-Mammary Syndrome |
|
Deformed radius, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th... |
OMIM:181450 |
| Osteopathia Striata With Cranial Sclerosis |
|
Ventricular septal defect, Short stature, Polyhydramnios, Arachnodactyly, Patent ductus arteriosu... |
OMIM:300373 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Curly hair, Tricuspid regurgitation, Ventricular septal defect, Slow-growing hair, Polyhydramnios... |
OMIM:617506 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple... |
OMIM:614700 |
| Letterer-Siwe Disease |
|
Thrombocytopenia, Neutropenia, Anemia, Hepatosplenomegaly |
OMIM:246400 |
| Noonan Syndrome 3 |
|
Ventricular septal defect, Short stature, Polyhydramnios, Patent ductus arteriosus, Mitral valve ... |
OMIM:609942 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Tricuspid regurgitation, Ventricular septal defect, Preaxial hand polydactyly, Postaxial hand pol... |
OMIM:263520 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Hip contracture, Ventricular septal defect, Short stature, Tarsal synostosis, Elbow flexion contr... |
OMIM:178110 |
| Rabson-Mendenhall Syndrome |
|
Ventricular septal defect, Thick hair, Short stature, Low anterior hairline, Premature graying of... |
ORPHA:769 |
| Microphthalmia With Limb Anomalies |
|
Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of the 5th finge... |
ORPHA:1106 |
| Loeys-Dietz Syndrome 5 |
|
Scapular winging, Ventricular septal defect, Short stature, Arachnodactyly, Growth delay, Increas... |
OMIM:615582 |
| Lateral Meningocele Syndrome |
|
Umbilical hernia, Meningocele, Ventricular septal defect, Low posterior hairline |
ORPHA:2789 |
| Smith-Lemli-Opitz Syndrome |
|
Polyhydramnios, Proximal placement of thumb, Atrial septal defect, Atrioventricular canal defect,... |
ORPHA:818 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Splenomegaly, Thrombocytopenia |
OMIM:619463 |
| Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Hypercalcemia, Testicular neoplasm, Primary hyperparathyroidism, Abnor... |
ORPHA:143 |
| Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... |
OMIM:108800 |
| Necrotizing Enterocolitis |
|
Hyponatremia, Leukocytosis, Thrombocytopenia, Neutropenia |
ORPHA:391673 |
| Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic acidemia, Pancytopenia, Hyperammonemia, Anemia, Hyperglycinemia, Neutropenia, Throm... |
OMIM:251100 |
| Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Ventricular septal defect, Short stature, Patent ductus arteriosus, Coronary artery fistula, Neon... |
OMIM:620024 |
| Cardiospondylocarpofacial Syndrome |
|
Carpal synostosis, Ventricular septal defect, Short stature, Tarsal synostosis, Muscular ventricu... |
OMIM:157800 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Left-to-right shunt, Ventricular septal defect, Congestive heart failure, Patent ductus arteriosu... |
ORPHA:99050 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Hyperextensibility of the finger joints, Arachnodactyly, Ventricular septal defect, Atrial septal... |
OMIM:309520 |
| Phocomelia, Schinzel Type |
|
Bowing of the long bones, Radial bowing, Micromelia, Aplasia of the ulna, Abnormal tibia morpholo... |
ORPHA:2879 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypercalcemia, Adrenal pheochromoc... |
ORPHA:276621 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Hypospadias, Cryptorchidism, Giant platelets, Anemia, Thrombocytopenia |
OMIM:611209 |
| Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Ventricular septal defect, Patent ductus arteriosus, Split hand, Clubbing, Growth delay, Death in... |
OMIM:600460 |
| Simpson-Golabi-Behmel Syndrome |
|
Prolonged QT interval, Bundle branch block, Death in infancy, Congenital hip dislocation, Ventric... |
ORPHA:373 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Pulmonary insufficiency, Bicuspid aortic valve, Ventricular septal defect, Parachute mitral valve... |
OMIM:265380 |
| Pediatric-Onset Graves Disease |
|
Puberty and gonadal disorders, Splenomegaly, Thyrotoxicosis with diffuse goiter, Increased circul... |
ORPHA:525731 |
| Marden-Walker Syndrome |
|
Severe short stature, Ventricular septal defect, Dextrocardia, Arachnodactyly, Camptodactyly of f... |
ORPHA:2461 |
| Lesch-Nyhan Syndrome |
|
Testicular atrophy, Hyperuricemia, Megaloblastic anemia |
OMIM:300322 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Intermittent thrombocytopenia, Cryptorchidism, Erythroid hypoplasia, Thrombocytopenia, Splenomega... |
OMIM:612541 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Growth delay, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:77298 |
| Roberts-Sc Phocomelia Syndrome |
|
Polyhydramnios, Tetraphocomelia, Sparse hair, Atrial septal defect, Phocomelia, Wrist flexion con... |
OMIM:268300 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
| Cerebellar-Facial-Dental Syndrome |
|
Infancy onset short-trunk short stature, Severe short stature, Ventricular septal defect, Single ... |
ORPHA:444072 |
| Omodysplasia 1 |
|
Short humerus, Rhizomelia, Ventricular septal defect, Increased fibular diameter, Short tibia, Fi... |
OMIM:258315 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Ventricular septal defect, Rocker bottom foot, Proximal placement of thumb, Tapered finger, Sanda... |
OMIM:613458 |
| Hereditary Folate Malabsorption |
|
Pancytopenia, Eosinophilia, Thrombocytopenia, Megaloblastic anemia |
ORPHA:90045 |
| Trichothiodystrophy |
|
Congenital exfoliative erythroderma, Sparse scalp hair, Brittle hair, Ventricular septal defect, ... |
ORPHA:33364 |
| Hypoplastic Left Heart Syndrome 2 |
|
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia |
OMIM:614435 |
| Zollinger-Ellison Syndrome |
|
Increased urinary cortisol level, Hyperparathyroidism, Pituitary null cell adenoma, Elevated circ... |
ORPHA:913 |
| Hajdu-Cheney Syndrome |
|
Coarse metaphyseal trabecularization, Brachydactyly, Ventricular septal defect, Mitral stenosis, ... |
ORPHA:955 |
| Microphthalmia, Syndromic 2 |
|
2-3 toe cutaneous syndactyly, Laterally curved eyebrow, Atrial septal defect, Contracture of the ... |
OMIM:300166 |
| Wilson Disease |
|
Splenomegaly, Thrombocytopenia, Anemia, Abnormality of the menstrual cycle |
ORPHA:905 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Palmoplantar hyperkeratosis, Sparse hair, Clinodactyly of the 5th finger, Highly arched eyebrow, ... |
OMIM:280000 |
| Somatostatinoma |
|
Neoplasm of the pancreas, Diabetes mellitus, Hypercalcemia, Elevated circulating growth hormone c... |
ORPHA:97283 |
| Leigh Syndrome |
|
Alopecia, Ventricular septal defect, Eczema, Progressive neurologic deterioration, Frontal hirsut... |
ORPHA:506 |
| Vater/Vacterl Association |
|
Occipital encephalocele, Syndactyly, Ventricular septal defect, Spina bifida, Postnatal growth re... |
OMIM:192350 |
| 16P13.11 Microdeletion Syndrome |
|
Ventricular septal defect, Short stature, Camptodactyly of finger, Metatarsus valgus, Talipes equ... |
ORPHA:261236 |
| Shwachman-Diamond Syndrome |
|
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Diabetes mellitus, Aplastic anemia,... |
ORPHA:811 |
| Charge Syndrome |
|
Hypoparathyroidism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
OMIM:214800 |
| Opitz Gbbb Syndrome |
|
Short attention span, Ventricular septal defect, Short stature, Patent ductus arteriosus, Widow's... |
ORPHA:2745 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc... |
ORPHA:90038 |
| Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Short femur, Ventricular septal defect, Genu valgum, Growth delay, Frontal upsweep of hair |
OMIM:617798 |
| Avian Influenza |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:454836 |
| Gaucher Disease, Type I |
|
Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia |
OMIM:230800 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Increased circulating ferritin concentration, Hypochromic microcytic anemia, Thrombocytopenia |
ORPHA:3240 |
| 3Q29 Microduplication Syndrome |
|
Camptodactyly of toe, Toe syndactyly, Ventricular septal defect, Sandal gap |
ORPHA:251038 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hemolytic anemia, Decreased response to growth hormone stimulation test, Cryptorchidism, Hepatosp... |
OMIM:619503 |
| Chime Syndrome |
|
Ventricular septal defect, Aplastic clavicle, Aplasia/Hypoplasia of the phalanges of the hand, Hi... |
ORPHA:3474 |
| Kleefstra Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Highly arched eyebrow, Supernumerary nipple, Sh... |
ORPHA:261494 |
| Insulin-Resistance Syndrome Type B |
|
Enlarged ovaries, Abnormal circulating lipid concentration, Enlarged polycystic ovaries, Abnormal... |
ORPHA:2298 |
| Monosomy 13Q34 |
|
Metrorrhagia, Hypercalcemia |
ORPHA:96168 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Elevated circulating acylcarnitine concentration, Hyperammonemia, Decreased circulating carnitine... |
ORPHA:99901 |
| Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Patent ductus arteriosus, Ventricular septal defect, Short stature |
OMIM:300472 |
| Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Proximal placement of thumb, Absent thumb, Hypoplasia of the radius, Hand oligodactyly, Proximal ... |
OMIM:602418 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Atrial reentry tachycardia, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Pate... |
OMIM:270100 |
| Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Ventricular septal defect, B... |
OMIM:301044 |
| Hydrolethalus Syndrome 1 |
|
Ventricular septal defect, Polyhydramnios, Complete atrioventricular canal defect, Preaxial hand ... |
OMIM:236680 |
| Schimke Immuno-Osseous Dysplasia |
|
Abnormality of thyroid physiology, Thrombocytopenia, Hyperlipidemia, Decreased proportion of naiv... |
ORPHA:1830 |
| Thrombocytopenia 6 |
|
Thrombocytopenia |
OMIM:616937 |
| Mevalonic Aciduria |
|
Normocytic hypoplastic anemia, Elevated circulating creatine kinase concentration, Elevated circu... |
OMIM:610377 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Ventricular septal defect, Aplasia of the distal phalanx of the 5th toe, Synophrys, Ventricular s... |
OMIM:608670 |
| Chromosome 13Q14 Deletion Syndrome |
|
Ventricular septal defect, Single transverse palmar crease, Supernumerary nipple, Overlapping toe... |
OMIM:613884 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Thrombocytopenia, Anemia, Elevated hepatic iron concentration |
OMIM:614946 |
| Meacham Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Patent ductus arteriosus, Anomalous pulmonary ... |
ORPHA:3097 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Syndactyly, Ventricular septal defect, Short stature, Patent ductus arteriosus, Widow's peak, Hip... |
OMIM:616975 |
| Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Pancytopenia, Pancreatic fibrosis, Thrombocytopenia, Reticulocytopenia, Hyp... |
OMIM:557000 |
| Vexas Syndrome |
|
Macrocytic anemia, Elevated circulating C-reactive protein concentration, Thrombocytopenia |
OMIM:301054 |
| Overlap Myositis |
|
Diabetes mellitus, Elevated circulating creatine kinase concentration, Leukopenia, Abnormal circu... |
ORPHA:206572 |
| Ppoma |
|
Neoplasm of the pancreas, Hypercalcemia, Elevated circulating growth hormone concentration, Abnor... |
ORPHA:97278 |
| Kaufman Oculocerebrofacial Syndrome |
|
Congenital hip dislocation, Short stature, Ventricular septal defect, Single transverse palmar cr... |
OMIM:244450 |
| Orofaciodigital Syndrome V |
|
Ventricular septal defect, Sandal gap, Postaxial polydactyly, Postaxial hand polydactyly, Postaxi... |
OMIM:174300 |
| 46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Intrauterine growth retardation, Ventricular septal defect, Oligohydramnios |
OMIM:611812 |
| Heterotaxy, Visceral, 12, Autosomal |
|
Ventricular septal defect, Dextrocardia, Situs inversus totalis, Common atrium, Complete atrioven... |
OMIM:619702 |
| Cranioectodermal Dysplasia 1 |
|
Hypocalcemia |
OMIM:218330 |
| Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fi... |
ORPHA:137675 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Thrombocytopenia, Anemia, Neutropenia |
OMIM:614520 |
| Diamond-Blackfan Anemia 1 |
|
Ventricular septal defect, Tricuspid stenosis, Short stature, Absent thumb, Hypoplastic ilia, Con... |
OMIM:105650 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Ventricular septal defect, Abnormal thumb morphology, Metatarsus adductus, Abnormal right ventric... |
ORPHA:500095 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Pancytopenia, Abnormal lymphocyte count, Thrombocytopenia, Abnormal natural killer cell count, He... |
ORPHA:79124 |
| Glucagonoma |
|
Neoplasm of the pancreas, Diabetes mellitus, Hypercalcemia, Elevated circulating growth hormone c... |
ORPHA:97280 |
| Yunis-Varon Syndrome |
|
Congenital hip dislocation, Single transverse palmar crease, Polyhydramnios, Short metatarsal, Hy... |
OMIM:216340 |
| Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Thrombocytopenia, Annular pancreas,... |
OMIM:227646 |
| Femoral-Facial Syndrome |
|
Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short stature, Ve... |
OMIM:134780 |
| Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Thrombocytopenia, Splenomegaly, Neutropenia, Leukopeni... |
OMIM:214500 |
| Thrombocytopenia 1 |
|
Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia |
OMIM:313900 |
| Gaucher Disease Type 1 |
|
Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Leukopenia, Delayed puberty, Thrombocytopenia |
ORPHA:77259 |
| Peters-Plus Syndrome |
|
Single transverse palmar crease, Polyhydramnios, Limited elbow movement, Proximal placement of th... |
OMIM:261540 |
| Felty Syndrome |
|
Splenomegaly, Anemia, Neutropenia, Abnormal lymphocyte morphology, Thrombocytopenia |
ORPHA:47612 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Bicuspid aortic valve, Polyhydramnios, Atrial septal defect, Patent foramen ovale, Syndactyly, Sh... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Bicuspid aortic valve, Polyhydramnios, Atrial septal defect, Patent foramen ovale, Syndactyly, Sh... |
ORPHA:353277 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Thrombocytopenia |
OMIM:617710 |
| Paget Disease Of Bone 2, Early-Onset |
|
Hypercalcemia |
OMIM:602080 |
| Chédiak-Higashi Syndrome |
|
Abnormal leukocyte morphology, Hyponatremia, Pancytopenia, Hypertriglyceridemia, Thrombocytopenia... |
ORPHA:167 |
| Boutonneuse Fever |
|
Leukopenia, Thrombocytopenia |
ORPHA:83313 |
| Acrofacial Dysostosis, Rodríguez Type |
|
Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal pelvic girdle bone morphology,... |
ORPHA:1788 |
| Johanson-Blizzard Syndrome |
|
Diabetes mellitus, Hypospadias, Septate vagina, Urethrovaginal fistula, Conjugated hyperbilirubin... |
OMIM:243800 |
| Mogs-Cdg |
|
External genital hypoplasia, Hepatosplenomegaly, Hydrocele testis, Inappropriate antidiuretic hor... |
ORPHA:79330 |
| Renal Agenesis |
|
Hypertension, Ventricular septal defect, Talipes equinovarus, Oligohydramnios |
ORPHA:411709 |
| Holoprosencephaly |
|
Encephalocele, Ventricular septal defect, Abnormal pulmonary valve morphology, Highly arched eyeb... |
ORPHA:2162 |
| Takenouchi-Kosaki Syndrome |
|
Cryptorchidism, Thrombocytopenia, Hypospadias, Increased mean platelet volume |
OMIM:616737 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Pancytopenia, Aplastic anemia, Leukopenia, Neutropenia, Thrombocytopenia |
OMIM:613989 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Hypoplast... |
OMIM:617205 |
| Multiple Endocrine Neoplasia Type 1 |
|
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... |
ORPHA:652 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Short attention span, Short stature, Ventricular septal defect, Hematochezia, Attention deficit h... |
OMIM:619575 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Curly hair, Ventricular septal defect, Thick hair, Highly arched eyebrow, Short stature, Congesti... |
ORPHA:444077 |
| Thakker-Donnai Syndrome |
|
Intrauterine growth retardation, Tetralogy of Fallot, Ventricular septal defect, Transposition of... |
ORPHA:1780 |
| Chromosome 14Q11-Q22 Deletion Syndrome |
|
Ventricular septal defect, Proportionate short stature, Patent ductus arteriosus, Growth delay, M... |
OMIM:613457 |
| Familial Hypocalciuric Hypercalcemia |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures |
ORPHA:405 |
| Feingold Syndrome 1 |
|
Ventricular septal defect, Tricuspid stenosis, Polyhydramnios, Short thumb, Patent ductus arterio... |
OMIM:164280 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypercalcemia, Adrenal pheochromoc... |
ORPHA:29072 |
| Pheochromocytoma |
|
Pheochromocytoma, Hypercalcemia |
OMIM:171300 |
| Good Syndrome |
|
Abnormal leukocyte morphology, Diabetes mellitus, Thrombocytopenia, Thymoma, Aplasia/Hypoplasia o... |
ORPHA:169105 |
| Grfoma |
|
Neoplasm of the pancreas, Hypercalcemia, Elevated circulating growth hormone concentration, Neopl... |
ORPHA:97261 |
| Encephalocraniocutaneous Lipomatosis |
|
Atrial septal defect, Alopecia, Ventricular septal defect, Subvalvular aortic stenosis |
OMIM:613001 |
| Mosaic Trisomy 20 |
|
Ventricular septal defect, Down-sloping shoulders, Dysplastic tricuspid valve, Abnormal mitral va... |
ORPHA:1724 |
| Arboleda-Tham Syndrome |
|
Secundum atrial septal defect, Atrial septal defect, Sparse medial eyebrow, Genu varum, Highly ar... |
OMIM:616268 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym... |
ORPHA:447 |
| Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Finger syndactyly, Ventricular septal defect, Polyhydramnios, 2-3 toe syndactyly, Aortopulmonary ... |
OMIM:620025 |
| Multiple Myeloma |
|
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Hyperproteinemia, Anemia |
ORPHA:29073 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Prominent fingertip pads, Alopecia, Anomaly of lower limb diaphyses, Bicuspi... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Prominent fingertip pads, Alopecia, Anomaly of lower limb diaphyses, Bicuspi... |
ORPHA:363958 |
| Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Hyperparathyroidism, Increased serum prostaglandin E2, Hypercalcemia, Hypochlor... |
OMIM:601678 |
| Cyclic Neutropenia |
|
Decreased eosinophil count, Lymphopenia, Cyclic neutropenia, Thrombocytopenia |
ORPHA:2686 |
| Prolidase Deficiency |
|
Splenomegaly, Thrombocytopenia, Anemia |
OMIM:170100 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Splenomegaly, Anemia, Leukopenia, Hypoalbuminemia, Neutropenia, Thrombocytopenia |
OMIM:617303 |
| Diamond-Blackfan Anemia 10 |
|
Growth delay, Patent ductus arteriosus, Ventricular septal defect, Short stature |
OMIM:613309 |
| Noonan Syndrome 1 |
|
Ventricular septal defect, Short stature, Lymphedema, Postnatal growth retardation, Cubitus valgu... |
OMIM:163950 |
| Coffin-Siris Syndrome 1 |
|
Dry hair, Single transverse palmar crease, Prominent interphalangeal joints, Atrial septal defect... |
OMIM:135900 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Atrial septal defect, Ventricular septal defect |
OMIM:610978 |
| Hermansky-Pudlak Syndrome 2 |
|
Absent platelet dense granules, Decreased CD4:CD8 ratio, Splenomegaly, Impaired ADP-induced plate... |
OMIM:608233 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Absent eyebrow, Psoriasiform dermatitis, Ventricular septal defect, Polyhydramnios, Nail dystroph... |
ORPHA:436252 |
| Ivic Syndrome |
|
Leukocytosis, Rectovaginal fistula, Thrombocytopenia |
ORPHA:2307 |
| Zika Virus Disease |
|
Thrombocytopenia |
ORPHA:448237 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Hallux valgus, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiome... |
OMIM:300967 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Short stature, ... |
ORPHA:353281 |
| Smith-Lemli-Opitz Syndrome |
|
Micromelia, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Atrial septal defect, Deat... |
OMIM:270400 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hypertriglyceridemia, Splenomegaly, Anemia, Lymphopenia, Thrombocytopenia |
OMIM:617591 |
| Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Severe short stature, Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Patent ... |
ORPHA:3047 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Edema, Polyhydramnios, Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricu... |
OMIM:619534 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Finger syndactyly, Ventricular septal defect, Sparse eyelashes, Supernumerary nipple, Sparse eyeb... |
ORPHA:1071 |
| Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Hallux valgus, Abnormal cardiac ventricular function, Tricuspid regurgitation, Ventricular septal... |
ORPHA:466791 |
| Fryns Syndrome |
|
Prominent fingertip pads, Ventricular septal defect, Single transverse palmar crease, Polyhydramn... |
OMIM:229850 |
| Tetraamelia Syndrome 2 |
|
Absent nipple, Ventricular septal defect |
OMIM:618021 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Aortic regurgitation, Hallux valgus, Ventricular septal defect, Abnormal pulmonary valve morpholo... |
ORPHA:268261 |
| Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial anomalous pulmonary ve... |
ORPHA:95430 |
| Costello Syndrome |
|
Curly hair, Hyperextensibility of the finger joints, Ventricular septal defect, Short stature, Po... |
OMIM:218040 |
| 7Q11.23 Microduplication Syndrome |
|
Ventricular septal defect, Short stature, Single transverse palmar crease, Sparse anterior scalp ... |
ORPHA:96121 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Hypocalcemic seizures, Elevated circulating parathyroid hormone level, Secondary hyperparathyroid... |
OMIM:277440 |
| Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Hypospadias, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopen... |
ORPHA:124 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Polyhydramnios, Narrow greater sciatic notch, Short palm, Atrial septal defect, Patent ductus art... |
OMIM:312870 |
| Jacobsen Syndrome |
|
Ventricular septal defect, Abnormal eyelash morphology, Clinodactyly of the 5th finger, Atrial se... |
OMIM:147791 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypoparathyroidism, Precocious puberty, Hypertriglyceridemia, Hypercalcemia |
ORPHA:369837 |
| Acute Radiation Syndrome |
|
Lymphopenia, Granulocytopenia, Thrombocytopenia |
ORPHA:454831 |
| Mycophenolate Mofetil Embryopathy |
|
Foot polydactyly, Ventricular septal defect, Hydrops fetalis, Short palm |
ORPHA:268249 |
| Degcags Syndrome |
|
Polyhydramnios, Synophrys, Low anterior hairline, Premature graying of hair, Atrial septal defect... |
OMIM:619488 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Splenomegaly, Hemolytic anemia, Thrombocytopenia |
ORPHA:169090 |
| Blue Rubber Bleb Nevus |
|
Iron deficiency anemia, Thrombocytopenia |
OMIM:112200 |
| Lysinuric Protein Intolerance |
|
Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole... |
ORPHA:470 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Neutropenia, Lymphopenia, Anemia |
ORPHA:508542 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated circulating alpha-fetoprotein concentration, Splenomegaly, Hypoalbuminemia, Hyperbilirub... |
OMIM:251880 |
| Holocarboxylase Synthetase Deficiency |
|
Hyperammonemia, Thrombocytopenia |
OMIM:253270 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Cryptorchidism, Micropenis, Decreased hemoglobin concentration, Thrombocytopenia |
OMIM:619005 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Ventricular septal defect, Bicuspid aortic valve, Supernumerary nipple, Postaxial polydactyly, In... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Ventricular septal defect, Bicuspid aortic valve, Supernumerary nipple, Postaxial polydactyly, In... |
ORPHA:352665 |
| Aicardi-Goutieres Syndrome 1 |
|
Splenomegaly, Thrombocytopenia, Hypothyroidism, Diabetes insipidus |
OMIM:225750 |
| Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Ventricular septal defect, Short stature, Abnormal tibia morphology, Abnormal heart morphology, M... |
ORPHA:363700 |
| Hoyeraal-Hreidarsson Syndrome |
|
Abnormal leukocyte morphology, Thrombocytopenia, Anemia |
ORPHA:3322 |
| Keutel Syndrome |
|
Miscarriage, Ventricular septal defect, Short hallux, Premature fusion of phalangeal epiphyses, S... |
OMIM:245150 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... |
OMIM:246570 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Short stature, Single transverse palmar crease, Junc... |
OMIM:309801 |
| Townes-Brocks Syndrome 1 |
|
2-4 finger syndactyly, Pseudoepiphyses of second metacarpal, Ventricular septal defect, 1-2 toe s... |
OMIM:107480 |
| Immunodeficiency 40 |
|
T lymphocytopenia, Thrombocytopenia |
OMIM:616433 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Anemia, Leukopenia, Increased mean corpuscular volume, Lymphopenia, Thrombocytop... |
OMIM:127550 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Hypercalcemia |
ORPHA:476126 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Small scrotum, Hypocalcemia |
OMIM:620330 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... |
OMIM:157640 |
| Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy... |
OMIM:260400 |
| Wilson Disease |
|
Hypoparathyroidism, Hemolytic anemia, Decreased circulating ceruloplasmin concentration, Hypouric... |
OMIM:277900 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
High nonceruloplasmin-bound serum copper, Thrombocytopenia |
ORPHA:457351 |
| Zttk Syndrome |
|
Aortic regurgitation, Curly hair, Ventricular septal defect, Short stature, Sparse eyebrow, Paten... |
OMIM:617140 |
| Sepsis In Premature Infants |
|
Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, Anemia, Neutro... |
ORPHA:90051 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Cystathioni... |
OMIM:277400 |
| Pediatric Systemic Lupus Erythematosus |
|
Leukopenia, Lymphopenia, Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:93552 |
| Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect |
OMIM:610338 |
| Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Ventricular septal defect, Hypoplastic left heart, Attention deficit hyperactivity disorder, Tetr... |
OMIM:618748 |
| Bernard-Soulier Syndrome |
|
Decreased platelet glycoprotein Ib-IX-V, Macrothrombocytopenia, Giant platelets, Menorrhagia, Imp... |
ORPHA:274 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Ventricular septal defect, Overlapping toe, Cerebral hemorrhage, Patent ductus arteriosus, Clinod... |
OMIM:616682 |
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Thrombocytopenia |
OMIM:611126 |
| Cerebrocostomandibular Syndrome |
|
Short humerus, Congenital hip dislocation, Ventricular septal defect, Calcaneal epiphyseal stippl... |
OMIM:117650 |
| Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Pancytopenia, Aplastic anemia, Thrombocytopenia |
OMIM:224230 |
| Orotic Aciduria |
|
Atrial septal defect, Ventricular septal defect |
OMIM:258900 |
| Pseudo-Torch Syndrome 1 |
|
Splenomegaly, Thrombocytopenia |
OMIM:251290 |
| Kaposiform Lymphangiomatosis |
|
Metrorrhagia, Pancreatic cysts, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Abnormal sple... |
ORPHA:464329 |
| Multiple Endocrine Neoplasia Type 2 |
|
Paraganglioma of head and neck, Cervical neoplasm, Hypercalcemia, Thyroid C cell hyperplasia, Pri... |
ORPHA:653 |
| Early Infantile Epileptic Encephalopathy |
|
Ventricular septal defect, Short finger, Broad finger, Umbilical hernia, Broad phalanx of the toes |
ORPHA:1934 |
| Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Neutropenia, Thrombocytopenia, Hyperechogenic pancreas |
OMIM:617941 |
| Shigellosis |
|
Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Microangiopathic hemolytic anemia, ... |
ORPHA:810 |
| Pseudo-Torch Syndrome 2 |
|
Thrombocytopenia |
OMIM:617397 |
| Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Abnormality of the menstrual... |
ORPHA:906 |
| Craniotubular Dysplasia, Ikegawa Type |
|
Metaphyseal dysplasia, Ventricular septal defect, Short stature, Broad ischia, Diaphyseal dysplas... |
OMIM:619727 |
| Okamoto Syndrome |
|
Facial hypertrichosis, Ventricular septal defect, Abnormal left ventricle morphology, Oligohydram... |
ORPHA:2729 |
| X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Toe syndactyly, Ventricular septal defect, Single transverse palmar crease, Polyhydramnios, Taper... |
ORPHA:459070 |
| Dyskeratosis Congenita |
|
Neoplasm of the pancreas, Diabetes mellitus, Abnormality of neutrophils, Thrombocytopenia, Spleno... |
ORPHA:1775 |
| Kasabach-Merritt Syndrome |
|
Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An... |
ORPHA:2330 |
| Dubowitz Syndrome |
|
Hypoparathyroidism, Hypospadias, Abnormality of neutrophils, Cryptorchidism, Thrombocytopenia, Ac... |
ORPHA:235 |
| Thauvin-Robinet-Faivre Syndrome |
|
Ventricular septal defect, Bowing of the legs, Pedal edema, Mitral valve prolapse, Large hands, L... |
OMIM:617107 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Splenomegaly, Hemolytic anemia, Thrombocytopenia, Neutropenia |
OMIM:308230 |
| Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Decreased circulating copper concentration, Splenomegaly, Le... |
OMIM:300972 |
| Lathosterolosis |
|
Thrombocytopenia, Hypoplasia of penis, Anisopoikilocytosis, Abnormal platelet morphology |
ORPHA:46059 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormality of the endocrine system, Th... |
ORPHA:391487 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Broad toe, Short stature, Ventricular septal defect, Single transverse palmar crease, Tapered fin... |
OMIM:619522 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Leukopenia, Thrombocytopenia, Neutropenia |
OMIM:616271 |
| Ebola Hemorrhagic Fever |
|
Leukopenia, Lymphopenia, Thrombocytopenia |
ORPHA:319218 |
| Fanconi Anemia |
|
Pyridoxine-responsive sideroblastic anemia, Hypospadias, Abnormal preputium morphology, Cryptorch... |
ORPHA:84 |
| Hardikar Syndrome |
|
Ventricular septal defect, Short stature, Portal hypertension, Hematemesis, Pruritus, Patent duct... |
OMIM:301068 |
| Renpenning Syndrome 1 |
|
Brittle hair, Ventricular septal defect, Short stature, Situs inversus totalis, Joint contracture... |
OMIM:309500 |
| Immunodeficiency 22 |
|
Decreased proportion of CD4-positive helper T cells, Thrombocytopenia, Anemia |
OMIM:615758 |
| Focal Dermal Hypoplasia |
|
Brittle hair, Congenital hip dislocation, Osteopathia striata, Short metatarsal, Foot oligodactyl... |
OMIM:305600 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Bicuspid aortic valve, Synophrys, Clinodactyly of the 5th finger, Atrial septal defect, Patent fo... |
OMIM:607872 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of the tarsal bones, Phocomelia, Elbow anky... |
OMIM:276820 |
| Deeah Syndrome |
|
Decreased hemoglobin concentration, Decreased response to growth hormone stimulation test, Anteri... |
OMIM:619004 |
| Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Double ou... |
OMIM:615067 |
| Wolf-Hirschhorn Syndrome |
|
Short stature, Ventricular septal defect, Highly arched eyebrow, Single transverse palmar crease,... |
OMIM:194190 |
| Williams-Beuren Syndrome |
|
Bicuspid aortic valve, Premature graying of hair, Atrial septal defect, Clinodactyly of the 5th f... |
OMIM:194050 |
| Marburg Hemorrhagic Fever |
|
Lymphopenia, Reticulocytosis, Elevated circulating creatine kinase concentration, Hyperamylasemia... |
ORPHA:99826 |
| Phace Association |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:606519 |
| Recon Progeroid Syndrome |
|
Thrombocytopenia, Anemia |
OMIM:620370 |
| Lysinuric Protein Intolerance |
|
Hypolysinemia, Splenomegaly, Increased circulating ferritin concentration, Hyperammonemia, Anemia... |
OMIM:222700 |
| Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Pancytopenia, Hypospadias, Phimosis, Cryptorchidism, Thrombocytopenia, Le... |
OMIM:305000 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Aortic regurgitation, Short attention span, Broad eyebrow, Ventricular septal defect, Bicuspid ao... |
OMIM:619475 |
| Catastrophic Antiphospholipid Syndrome |
|
Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:464343 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Thrombocytopenia, Aplasia of the uterus |
ORPHA:3320 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Severe B lymphocytopenia, Cryptorchidism, Thrombocytopenia, Lymphopenia, Hypoth... |
OMIM:620005 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Normochromic anemia, Hypoalbuminemia, Thrombocytopenia |
OMIM:254900 |
| Cutis Laxa, Autosomal Dominant 1 |
|
Aortic regurgitation, Congestive heart failure, Mitral regurgitation, Ventricular septal defect |
OMIM:123700 |
| 21Q22.11Q22.12 Microdeletion Syndrome |
|
Thrombocytopenia, Hypoplastic nipples, Anemia |
ORPHA:261323 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Thrombocytopenia, Elevated circulating C-reactive protein concentration, Lymphocytosis, Decreased... |
OMIM:617718 |
| Adams-Oliver Syndrome |
|
Leukopenia, Thrombocytopenia |
ORPHA:974 |
| Williams Syndrome |
|
Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Periorbital edema, Atrial septal defe... |
ORPHA:904 |
| Castleman Disease |
|
Decreased mean corpuscular volume, Thrombocytopenia, Elevated circulating C-reactive protein conc... |
ORPHA:160 |
| Tangier Disease |
|
Hypertriglyceridemia, Hepatosplenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia |
ORPHA:31150 |
| Lujo Hemorrhagic Fever |
|
Elevated circulating C-reactive protein concentration, Leukocytosis, Leukopenia, Lymphopenia, Thr... |
ORPHA:319213 |
| Ivic Syndrome |
|
Leukocytosis, Rectovaginal fistula, Thrombocytopenia |
OMIM:147750 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... |
ORPHA:99125 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Ventricular septal defect |
OMIM:619306 |
| Gaucher Disease, Perinatal Lethal |
|
Splenomegaly, Thrombocytopenia, Anemia, Hepatosplenomegaly |
OMIM:608013 |
| Viss Syndrome |
|
Epidural hemorrhage, Polyhydramnios, Right ventricular dilatation, Atrial septal defect, Patent f... |
OMIM:619472 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia |
ORPHA:289176 |
| Congenital Erythropoietic Porphyria |
|
Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Abnormal circulating porphyrin con... |
ORPHA:79277 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Decreased HDL cholesterol concentration, Decreased serum insulin-like growth factor 1, Hypertrigl... |
ORPHA:77293 |
| Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... |
OMIM:119100 |
| Sarcoidosis |
|
Hemolytic anemia, Hyperthyroidism, Diabetes insipidus, Eosinophilia, Hypercalcemia, Abnormal repr... |
ORPHA:797 |
| Esophageal Atresia |
|
Ventricular septal defect, Polyhydramnios, Growth delay, Clinodactyly, Tetralogy of Fallot |
ORPHA:1199 |
| Diamond-Blackfan Anemia 21 |
|
Erythroid hypoplasia, Thrombocytopenia, Anemia |
OMIM:620072 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Hyperparathyroidism, Hypoammonemia, Cryptorchidism, Hypophosphatemia, Anemia, Abnor... |
ORPHA:534 |
| Caroli Syndrome |
|
Hypersplenism, Conjugated hyperbilirubinemia, Leukocytosis, Leukopenia, Hyperbilirubinemia, Abnor... |
ORPHA:480520 |
| Farber Disease |
|
Thrombocytopenia, Anemia, Hepatosplenomegaly |
ORPHA:333 |
| Brucellosis |
|
Elevated circulating C-reactive protein concentration, Orchitis, Hypersplenism, Leukocytosis, Epi... |
ORPHA:1304 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperammonemia, Hyperhomocystine... |
ORPHA:79282 |
| Congenital Tracheal Stenosis |
|
Ventricular septal defect, Fetal ascites, Polyhydramnios, Patent ductus arteriosus, Hypoplastic l... |
ORPHA:141127 |
| Hellp Syndrome |
|
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Microangiopathic hemolytic... |
ORPHA:244242 |
| Alport Syndrome 1, X-Linked |
|
Hypoparathyroidism, Thrombocytopenia |
OMIM:301050 |
| Microphthalmia, Syndromic 3 |
|
Postnatal growth retardation, Patent ductus arteriosus, Ventricular septal defect, Short stature |
OMIM:206900 |
| Holoprosencephaly 13, X-Linked |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Double outlet right ... |
OMIM:301043 |
| Porphyria, Congenital Erythropoietic |
|
Hemolytic anemia, Splenomegaly, Elevated circulating uroporphyrin concentration, Cholelithiasis, ... |
OMIM:263700 |
| Pallister-Killian Syndrome |
|
Edema of the dorsum of feet, Congenital hip dislocation, Single transverse palmar crease, Polyhyd... |
OMIM:601803 |
| Immunodeficiency 87 And Autoimmunity |
|
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... |
OMIM:619573 |
| Alzahrani-Kuwahara Syndrome |
|
Ventricular septal defect, Eczema, Coronary sinus enlargement, Short stature, Atrial septal defec... |
OMIM:619268 |
| Toxic Epidermal Necrolysis |
|
Thrombocytopenia, Abnormal vagina morphology, Anemia, Neutropenia |
ORPHA:537 |
| Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Neonatal alloimmune thrombocytopenia |
ORPHA:853 |
| Klippel-Trenaunay-Weber Syndrome |
|
Syndactyly, Macrodactyly, Lymphedema, Hand oligodactyly, Hand polydactyly |
OMIM:149000 |
| Stevens-Johnson Syndrome |
|
Anemia, Dyspareunia, Thrombocytopenia, Abnormality of neutrophils |
ORPHA:36426 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Thrombocytopenia |
ORPHA:572798 |
| Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Thrombocytopenia |
OMIM:612394 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Hepatosplenomegaly, Anemia, Leukopenia, Hypoalbuminemia, Thrombocytopenia |
ORPHA:505248 |
| Orofaciodigital Syndrome X |
|
Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia |
OMIM:165590 |
| Atelis Syndrome 2 |
|
Thrombocytopenia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemi... |
OMIM:620185 |
| Orofaciodigital Syndrome Xiv |
|
Occipital encephalocele, Ventricular septal defect, Broad hallux, Patent ductus arteriosus, Posta... |
OMIM:615948 |
| Orofaciodigital Syndrome Type 14 |
|
Broad hallux, Ventricular septal defect, Deviation of the hallux, Patent ductus arteriosus, Posta... |
ORPHA:434179 |
| Gaucher Disease, Type Ii |
|
Splenomegaly, Thrombocytopenia, Anemia |
OMIM:230900 |
| Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Premature ovarian insufficiency, T lymphocytopenia, B lymphocytopeni... |
OMIM:251260 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Short stature, Patent ductus arteriosus, Abnorm... |
ORPHA:438213 |
| Gaucher Disease Type 3 |
|
Pancytopenia, Splenomegaly, Anemia, Delayed puberty, Thrombocytopenia |
ORPHA:77261 |
| Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
| X-Linked Intellectual Disability, Snyder Type |
|
Cryptorchidism, Hypospadias, Abnormality of the Leydig cells, Testicular atrophy |
ORPHA:3063 |
| Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Pancytopenia, Splenomegaly, Increased circulating ferritin concentration, Anemi... |
OMIM:615846 |
| Roberts Syndrome |
|
Cryptorchidism, Thrombocytopenia, Long penis, Clitoral hypertrophy |
ORPHA:3103 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Growth delay, Ventricular septal defect |
OMIM:619418 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Pancytopenia, Abnormality of the spleen, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Azoo... |
ORPHA:2072 |
| Hemorrhagic Fever-Renal Syndrome |
|
Leukocytosis, Elevated circulating creatinine concentration, Hyperkalemia, Anemia, Hyperphosphate... |
ORPHA:340 |
| Crimean-Congo Hemorrhagic Fever |
|
Pancytopenia, Neutrophilia, Elevated circulating creatine kinase concentration, Orchitis, Thrombo... |
ORPHA:99827 |
| Genitopatellar Syndrome |
|
Sparse scalp hair, Hip contracture, Congenital hip dislocation, Ventricular septal defect, Polyhy... |
OMIM:606170 |
| Idiopathic Hypereosinophilic Syndrome |
|
Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Mye... |
ORPHA:3260 |
| Tick-Borne Encephalitis |
|
Leukopenia, Leukocytosis, Elevated circulating C-reactive protein concentration, Thrombocytopenia |
ORPHA:297 |
| Kabuki Syndrome 1 |
|
Prominent fingertip pads, Congenital hip dislocation, Ventricular septal defect, Short stature, H... |
OMIM:147920 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Thrombocytopenia, Anemia |
OMIM:612199 |
| Sotos Syndrome |
|
Hip contracture, Ventricular septal defect, Sparse anterior scalp hair, Patent ductus arteriosus,... |
ORPHA:821 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Metaphyseal widening, Ventricular septal defect, Short stature, Tibial bowing |
OMIM:259770 |
| Holoprosencephaly 14 |
|
Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia |
OMIM:619895 |
| Q Fever |
|
Splenomegaly, Thrombocytopenia, Anemia, Hepatosplenomegaly |
ORPHA:781 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Abnormality of the endocrine system, Thrombocytopenia, Hypospadias, Increased mean platelet volume |
ORPHA:487796 |
| Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly |
OMIM:228250 |
| Kikuchi-Fujimoto Disease |
|
Elevated circulating C-reactive protein concentration, Thrombocytopenia, Splenomegaly, Enlargemen... |
ORPHA:50918 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Splenomegaly, Hypocalcemic seizures, Anemia |
OMIM:612301 |
| Steinert Myotonic Dystrophy |
|
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... |
ORPHA:273 |
| Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Ventricular septal defect, Metatarsus adductus, Osteopathia striata, Hip dysplasia, Sparse latera... |
ORPHA:513456 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Biliary hyperplasia, Hypersplenism, Pancreatic cysts, Splenomegaly, Hepatosplenomeg... |
ORPHA:731 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating C-reactive pr... |
OMIM:256040 |
| Mowat-Wilson Syndrome |
|
Ventricular septal defect, Short stature, Supernumerary nipple, Patent ductus arteriosus, Abnorma... |
OMIM:235730 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hyperbilirubinemia, Thrombocytopenia |
ORPHA:464321 |
| Primary Sjögren Syndrome |
|
Normocytic anemia, Lymphopenia, Thrombocytopenia, Thyroiditis, Leukopenia, Normochromic anemia, D... |
ORPHA:289390 |
| Alagille Syndrome 1 |
|
Hypoplasia of the ulna, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Sho... |
OMIM:118450 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Splenomegaly, Thrombocytopenia |
OMIM:301072 |
| Rift Valley Fever |
|
Thrombocytopenia, Anemia |
ORPHA:319251 |
| Nijmegen Breakage Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Thrombocytopenia, Acute leukemia |
ORPHA:647 |
| Gaucher Disease |
|
Pancytopenia, Elevated circulating C-reactive protein concentration, Splenomegaly, Anemia, Delaye... |
ORPHA:355 |
| Yellow Fever |
|
Neutrophilia, Elevated circulating creatine kinase concentration, Leukocytosis, Pancreatic hyperp... |
ORPHA:99829 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Enlarged lacrimal glands, Thyroiditis, Enlargement of parotid gland, Nodular goiter, Abnormal sal... |
ORPHA:79078 |
| Penile Agenesis |
|
Atrial septal defect, Bilateral talipes equinovarus, Ventricular septal defect, Oligohydramnios |
ORPHA:49 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bicuspid aortic valve, Calcaneovalgus deformity, Long hallux, Long toe, Syndactyly, Short stature... |
ORPHA:261552 |
| Proboscis Lateralis |
|
Abnormal eyebrow morphology, Patent ductus arteriosus, Ventricular septal defect, Abnormal locati... |
ORPHA:141099 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Microcytic anemia, Splenomegaly, Anemia, Bile duct proliferation, Type I diabetes mellitus, Throm... |
OMIM:619525 |
| Aicardi-Goutières Syndrome |
|
Diabetes mellitus, Neonatal alloimmune thrombocytopenia, Chronic lymphatic leukemia, Hepatospleno... |
ORPHA:51 |
| Systemic Lupus Erythematosus |
|
Leukopenia, Hemolytic anemia, Thrombocytopenia |
ORPHA:536 |
| Tukel Syndrome |
|
Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly |
OMIM:609428 |
| Congenital Fibrosis Of Extraocular Muscles |
|
Hand oligodactyly |
ORPHA:45358 |
| Acute Liver Failure |
|
Hyperammonemia, Adrenal insufficiency, Thrombocytopenia |
ORPHA:90062 |
| Osteogenesis Imperfecta |
|
Thrombocytopenia |
ORPHA:666 |
| Craniofacial Microsomia 1 |
|
Occipital encephalocele, Ventricular septal defect, Patent ductus arteriosus, Partial duplication... |
OMIM:164210 |
| Leptospirosis |
|
Hyperproteinemia, Thrombocytopenia |
ORPHA:509 |
| Aprosencephaly Syndrome |
|
Anencephaly, Hand oligodactyly |
OMIM:207770 |
