| 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 |
