Autism, Susceptibility To, 20 |
|
Attention deficit hyperactivity disorder, Impaired social interactions, Compulsive behaviors |
OMIM:618830 |
Myofibromatosis, Infantile, 1 |
|
Fibroma, Myofibromatosis |
OMIM:228550 |
Multiple Fibroadenomas Of The Breast |
|
Fibroadenoma of the breast |
OMIM:615554 |
Sarcoma, Synovial |
|
Synovial sarcoma |
OMIM:300813 |
Alveolar Soft Part Sarcoma |
|
Alveolar soft part sarcoma |
OMIM:606243 |
Reticulum Cell Sarcoma |
|
Neoplasm, Sarcoma |
OMIM:267730 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Hepatomegaly, Fetal ascites, Polyhydramnios, Splenomegaly, Hydrops fetalis, Fetal pericardial eff... |
OMIM:619462 |
RCAD (renal cysts and diabetes) |
|
Abnormality of the liver, Multiple renal cysts |
DECIPHER:47 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Cutaneous leiomyosarcoma, Multiple cutaneous leiomyomas, Uterine leiomyoma, Uterine leiomyosarcom... |
OMIM:150800 |
Colorectal Cancer |
|
Renal cell carcinoma, Uterine leiomyosarcoma, Transitional cell carcinoma of the bladder |
OMIM:114500 |
Ewing Sarcoma |
|
Ewing sarcoma |
OMIM:612219 |
Asperger Syndrome, Susceptibility To, 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... |
OMIM:608631 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Barrett esophagus, Multiple cutaneous leiomyomas, Vaginal neoplasm, Esophageal neoplasm, Papillar... |
ORPHA:523 |
Tumor Predisposition Syndrome 4 |
|
Glioma, Meningioma, Breast carcinoma, Sarcoma |
OMIM:609265 |
Birt-Hogg-Dube Syndrome 1 |
|
Renal neoplasm, Cutaneous leiomyosarcoma, Trichodiscoma, Fibrofolliculoma, Renal cyst, Multiple l... |
OMIM:135150 |
Polycystic Kidney Disease 7 |
|
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... |
OMIM:620056 |
Renal Dysplasia, Cystic, Susceptibility To |
|
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... |
OMIM:601331 |
Fetal Parvovirus Syndrome |
|
Increased nuchal translucency, Hydrops fetalis, Intrauterine growth retardation, Hypertrophic car... |
ORPHA:295 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Nuchal Bleb, Familial |
|
Stillbirth, Fetal cystic hygroma, Hydrops fetalis |
OMIM:257350 |
Melanoma-Pancreatic Cancer Syndrome |
|
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... |
OMIM:606719 |
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
|
Renal angiomyolipoma, Cortical tubers, Polycystic kidney dysplasia |
OMIM:600273 |
Li-Fraumeni Syndrome |
|
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... |
ORPHA:524 |
Chondrosarcoma |
|
Chondrosarcoma |
OMIM:215300 |
Chondrosarcoma, Extraskeletal Myxoid |
|
Chondrosarcoma |
OMIM:612237 |
Pleuropulmonary Blastoma |
|
Medulloblastoma, Pleuropulmonary blastoma, Rhabdomyosarcoma |
OMIM:601200 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... |
OMIM:618773 |
Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
Intellectual Developmental Disorder, Autosomal Recessive 66 |
|
Gait ataxia, Shyness, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:618221 |
Enchondromatosis, Multiple, Ollier Type |
|
Chondrosarcoma, Hemangioma, Multiple enchondromatosis |
OMIM:166000 |
Desmoid Disease, Hereditary |
|
Desmoid tumors, Breast carcinoma |
OMIM:135290 |
Nephronophthisis 20 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... |
OMIM:617271 |
Undifferentiated Pleomorphic Sarcoma |
|
Soft tissue sarcoma |
ORPHA:2023 |
Cowden-Like syndrome |
|
Endometrial carcinoma, Uterine leiomyoma, Papillary thyroid carcinoma, Breast carcinoma |
OMIM:612359 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Pericarditis, Polyhydramnios, Splenomegaly, Hydrops fetalis, Pallor, Oligohydramnios |
ORPHA:163596 |
Li-Fraumeni Syndrome |
|
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... |
OMIM:151623 |
Large Congenital Melanocytic Nevus |
|
Rhabdomyosarcoma, Neoplasm, Neoplasm of the skin, Cutaneous melanoma, Sarcoma |
ORPHA:626 |
Autism |
|
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... |
OMIM:209850 |
Autism, Susceptibility To, 8 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... |
OMIM:607373 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity, Abnormal social behavior |
ORPHA:436151 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... |
OMIM:617610 |
Rhabdomyosarcoma, Embryonal, 2 |
|
Ovarian thecoma, Nephroblastoma, Embryonal rhabdomyosarcoma, Pleuropulmonary blastoma |
OMIM:180295 |
Renal Hypodysplasia/Aplasia 3 |
|
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... |
OMIM:617805 |
Rhabdomyosarcoma, Embryonal, 1 |
|
Embryonal rhabdomyosarcoma |
OMIM:268210 |
Cardiomyopathy, Familial Restrictive, 6 |
|
Hepatomegaly, Hydrops fetalis, Pulmonic stenosis, Restrictive cardiomyopathy, Ascites, Portal vei... |
OMIM:619433 |
Rhabdomyosarcoma 2 |
|
Alveolar rhabdomyosarcoma |
OMIM:268220 |
Dermatofibrosarcoma Protuberans |
|
Fibrosarcoma, Neoplasm of the skin |
ORPHA:31112 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Restrictive behavior, Unsteady gait, Impaired ability to form peer relationships, Impaired social... |
OMIM:608636 |
Intellectual Developmental Disorder With Autism And Speech Delay |
|
Inability to walk, Abnormal repetitive mannerisms, Impaired social interactions |
OMIM:606053 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
Hanac Syndrome |
|
Hematuria, Renal insufficiency, Multiple renal cysts |
ORPHA:73229 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Splenomegaly, Hepatomegaly, Pallor |
ORPHA:46532 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Hepatomegaly, Short stature, Polyhydramnios, Splenomegaly, Hydrops fetalis |
ORPHA:2204 |
Colorectal Cancer, Susceptibility To, 12 |
|
Carcinoma |
OMIM:615083 |
Primary Effusion Lymphoma |
|
Pericardial effusion, Abnormal peritoneum morphology, Pleural effusion |
ORPHA:48686 |
Multiple Enchondromatosis, Maffucci Type |
|
Chondrosarcoma, Hemangioma, Multiple enchondromatosis |
OMIM:614569 |
Polycystic Liver Disease 4 With Or Without Kidney Cysts |
|
Renal cyst, Hepatic cysts |
OMIM:617875 |
Polycystic Liver Disease 3 With Or Without Kidney Cysts |
|
Renal cyst, Hepatic cysts |
OMIM:617874 |
Congenital Heart Block |
|
Premature birth, Pericardial effusion, Hydrops fetalis, Peripheral edema, Vaginal birth after Cae... |
ORPHA:60041 |
Congenital Pulmonary Lymphangiectasia |
|
Hepatomegaly, Splenomegaly, Hydrops fetalis, Chylopericardium, Growth delay, Pulmonic stenosis, P... |
ORPHA:2414 |
Hydrops Fetalis, Nonimmune |
|
Nonimmune hydrops fetalis, Hydrops fetalis |
OMIM:236750 |
Indomethacin Embryofetopathy |
|
Ventricular septal defect, Premature birth, Hydrops fetalis, Cardiomyopathy, Atrial septal defect... |
ORPHA:1909 |
Mismatch Repair Cancer Syndrome 1 |
|
Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma, Rhabdomyosarcoma, Oligodendroglioma, ... |
OMIM:276300 |
Retinoblastoma |
|
Glioma, Rhabdomyosarcoma, Lymphoma, Pineoblastoma, Leiomyosarcoma, Melanoma, Retinoblastoma, Leuk... |
ORPHA:790 |
Carney Triad |
|
Gastrointestinal stroma tumor, Leiomyosarcoma, Adrenocortical adenoma, Pheochromocytoma, Paragang... |
ORPHA:139411 |
Muir-Torre Syndrome |
|
Renal neoplasm, Endometrial carcinoma, Laryngeal carcinoma, Salivary gland neoplasm, Hematologica... |
ORPHA:587 |
Familial Multinodular Goiter |
|
Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Ovarian neoplasm, Basal cell ... |
ORPHA:276399 |
Hemochromatosis, Neonatal |
|
Nonimmune hydrops fetalis, Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Pro... |
OMIM:231100 |
Transaldolase Deficiency |
|
Edema, Hydrops fetalis, Hepatosplenomegaly, Biventricular hypertrophy, Cirrhosis, Atrial septal d... |
ORPHA:101028 |
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Hydrops fetalis, Nonimmune hydrops fetalis, Polyhydramnios |
OMIM:613124 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Hepatomegaly, Nonimmune hydrops fetalis, Splenomegaly, Cardiomyopathy, Abnormality of the amnioti... |
OMIM:608540 |
Nut Midline Carcinoma |
|
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... |
ORPHA:443167 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Choanal Atresia And Lymphedema |
|
Pericardial effusion, Lymphedema |
OMIM:613611 |
Hydrops Fetalis |
|
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Abnormal heart morph... |
ORPHA:1041 |
Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Renal cyst |
OMIM:615987 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
Nephrosialidosis |
|
Pericardial effusion, Ascites |
OMIM:256150 |
Full Schwannomatosis |
|
Neoplasm of the anterior pituitary, Bilateral vestibular schwannoma, Schwannoma, Peripheral schwa... |
ORPHA:93921 |
Glycogen Storage Disease Iv |
|
Decreased fetal movement, Polyhydramnios, Edema, Portal hypertension, Hydrops fetalis, Hepatosple... |
OMIM:232500 |
Familial Adenomatous Polyposis 3 |
|
Endometrial carcinoma, Pancreatic adenocarcinoma, Breast carcinoma, Bladder neoplasm, Basal cell ... |
OMIM:616415 |
Leiomyoma, Uterine |
|
Uterine leiomyoma |
OMIM:150699 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... |
OMIM:617300 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Redundant neck skin, Nonimmune hydrops fetalis, Cardiomyopathy, Neonatal death, Intrauterine grow... |
OMIM:619003 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Hypertrophic cardiomyopathy, Intrauterine growth retardation,... |
OMIM:614702 |
Hereditary Geniospasm |
|
Abnormal social behavior, Intention tremor |
ORPHA:53372 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Breast carcinoma, Squamou... |
ORPHA:454840 |
Hepatorenocardiac Degenerative Fibrosis |
|
Elevated hepatic transaminase, Portal hypertension, Jaundice, Renal cyst, Hepatosplenomegaly, Tub... |
OMIM:619902 |
Sialidosis Type 2 |
|
Hepatomegaly, Short stature, Splenomegaly, Hydrops fetalis, Pedal edema, Umbilical hernia, Ascites |
ORPHA:87876 |
Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Premature birth, Polyhydramnios, Hydrops fetalis, Ascites |
ORPHA:2123 |
Milroy Disease |
|
Angiosarcoma, Neoplasm of the skin |
ORPHA:79452 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Hepatomegaly, Nonimmune hydrops fetalis, Splenomegaly, Jaundice, Cholecystitis, Pallor, Cholelith... |
OMIM:266200 |
Mulibrey Nanism |
|
Hepatomegaly, Short stature, Cardiomegaly, Hydrops fetalis, Myocardial fibrosis, Growth delay, Pe... |
OMIM:253250 |
Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Lynch Syndrome 5 |
|
Neoplasm of the pancreas, Endometrial carcinoma, Ovarian neoplasm |
OMIM:614350 |
Achondrogenesis, Type Ib |
|
Polyhydramnios, Edema, Breech presentation, Hydrops fetalis, Stillbirth, Umbilical hernia, Neonat... |
OMIM:600972 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Premature birth, Cardiomegaly, Splenomegaly, Hydrops fetalis, Ascites |
OMIM:269920 |
Lymphatic Malformation 12 |
|
Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Fetal pericardial effusion,... |
OMIM:620014 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Neonatal death, Hepatomegaly, Decreased liver function, Renal cyst |
OMIM:614870 |
Hereditary Breast And/Or Ovarian Cancer Syndrome |
|
Neoplasm of the pancreas, Breast carcinoma, Ovarian neoplasm, Melanoma, Prostate cancer, Abnormal... |
ORPHA:145 |
Nephronophthisis 9 |
|
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613824 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Kinetic tremor, Torticollis, Postural tremor, Impaired social interactions |
OMIM:611092 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Intrauterine growth retardation, Premature birth, Nonimmune hydrops fetalis, Cardiomegaly |
OMIM:618838 |
Neuraminidase Deficiency |
|
Hepatomegaly, Short stature, Cardiomegaly, Facial edema, Splenomegaly, Hydrops fetalis, Cardiomyo... |
OMIM:256550 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Pancreatic adenocarcinoma, Hurthle cell thyroid adenoma, Nephrolithiasis, Papillary renal cell ca... |
OMIM:145001 |
Acquired Ichthyosis |
|
Renal insufficiency, Lymphoma, Neoplasm, Multiple myeloma, Sarcoma |
ORPHA:454 |
Lynch Syndrome 4 |
|
Endometrial carcinoma, Ovarian neoplasm |
OMIM:614337 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder |
OMIM:617028 |
Solitary Fibrous Tumor |
|
Soft tissue neoplasm, Vaginal neoplasm, Genital neoplasm, Neoplasm of the lung, Neoplasm of the l... |
ORPHA:2126 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Congenital diaphragmatic hernia, Leiomyosarcoma, Neoplasm, Vesicoureteral r... |
ORPHA:116 |
Alpha-Thalassemia |
|
Hypersplenism, Splenomegaly, Jaundice, Hydrops fetalis, Cholelithiasis |
ORPHA:846 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Bardet-Biedl Syndrome 16 |
|
Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Renal dysplasia |
OMIM:615993 |
Free Sialic Acid Storage Disease |
|
Hepatomegaly, Splenomegaly, Hydrops fetalis, Skin ulcer, Ascites |
ORPHA:834 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Single umbilical artery, Abnormal tri... |
ORPHA:3405 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Premature birth, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous ret... |
ORPHA:555874 |
Developmental And Epileptic Encephalopathy 96 |
|
Hydrops fetalis |
OMIM:619340 |
Paraneoplastic Pemphigus |
|
B-cell lymphoma, Thymoma, Sarcoma |
ORPHA:63455 |
Attenuated Familial Adenomatous Polyposis |
|
Astrocytoma, Uterine leiomyoma, Multiple renal cysts, Papilloma, Thyroid adenoma, Adenocarcinoma ... |
ORPHA:220460 |
Breast-Ovarian Cancer, Familial, Susceptibility To, 3 |
|
Ovarian carcinoma, Breast carcinoma |
OMIM:613399 |
Congenital Disorder Of Glycosylation, Type Il |
|
Decreased fetal movement, Hepatomegaly, Edema, Pericardial effusion, Hepatosplenomegaly, Abnormal... |
OMIM:608776 |
Ovarian Cancer |
|
Dysgerminoma, Ovarian papillary adenocarcinoma, Breast carcinoma |
OMIM:167000 |
Chondrodysplasia, Blomstrand Type |
|
Premature birth, Fetal ascites, Polyhydramnios, Hydrops fetalis, Stillbirth |
OMIM:215045 |
Fetal Gaucher Disease |
|
Hepatomegaly, Decreased fetal movement, Fetal akinesia sequence, Splenomegaly, Abnormality of the... |
ORPHA:85212 |
Phakomatosis Pigmentokeratotica |
|
Rhabdomyosarcoma, Precocious puberty, Cryptorchidism, Renal transitional cell carcinoma, Unilater... |
ORPHA:2874 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death, Hydrops fetalis, Endocardial fibroelastosis |
OMIM:276822 |
Nphp3-Related Meckel-Like Syndrome |
|
Multicystic kidney dysplasia, Abnormal biliary tract morphology, Renal dysplasia, Abnormal liver ... |
ORPHA:3032 |
Breast-Ovarian Cancer, Familial, Susceptibility To, 2 |
|
Breast carcinoma, Ovarian neoplasm |
OMIM:612555 |
Breast-Ovarian Cancer, Familial, Susceptibility To, 1 |
|
Breast carcinoma, Ovarian neoplasm |
OMIM:604370 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Resting tremor, Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Tremor, Abnormal ... |
ORPHA:3077 |
Colorectal Cancer, Susceptibility To, 10 |
|
Endometrial carcinoma |
OMIM:612591 |
Polymerase Proofreading-Related Adenomatous Polyposis |
|
Endometrial carcinoma, Brain neoplasm, Breast carcinoma, Adenocarcinoma of the colon |
ORPHA:447877 |
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
|
Pilomatrixoma, Embryonal rhabdomyosarcoma, Multiple enchondromatosis, Adenocarcinoma of the colon... |
OMIM:620189 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Hydrops fetalis, Fetal akinesia sequence |
OMIM:618815 |
Maffucci Syndrome |
|
Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm of the par... |
ORPHA:163634 |
Congenital Enterovirus Infection |
|
Decreased fetal movement, Premature birth, Fetal ascites, Polyhydramnios, Pericardial effusion, M... |
ORPHA:292 |
Epidermal Nevus Syndrome |
|
Rhabdomyosarcoma, Weakness of long finger extensor muscles, Spinal cord tumor, Polycystic kidney ... |
ORPHA:35125 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Polycystic liver disease, Renal cyst |
OMIM:174050 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Astrocytoma, Renal cyst, Uterine leiom... |
ORPHA:480536 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Nonimmune hydrops fetalis, Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular sept... |
OMIM:618052 |
Nephronophthisis 14 |
|
Polycystic kidney dysplasia, Nephronophthisis |
OMIM:614844 |
Medullary cystic kidney disease 2 |
|
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... |
OMIM:603860 |
Serrated Polyposis Syndrome |
|
Pancreatic adenocarcinoma, Biliary tract neoplasm, Schwannoma, Bladder carcinoma, Hodgkin lymphom... |
ORPHA:157798 |
Nephronophthisis 16 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Cholestasis, Periportal fibrosis, Polycystic... |
OMIM:615382 |
Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:2091 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Hepatomegaly, Short stature, Splenomegaly, Jaundice, Growth delay, Pallor |
OMIM:615631 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Growth delay, Pallor, Hypertrophic cardiomyopathy |
OMIM:613561 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome... |
OMIM:618061 |
Achondrogenesis |
|
Thickened nuchal skin fold, Severe short stature, Polyhydramnios, Hydrops fetalis, Umbilical hernia |
ORPHA:932 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... |
OMIM:115197 |
Familial Adenomatous Polyposis 4 |
|
Astrocytoma, Renal cyst, Ovarian cyst, Uterine leiomyoma, Thyroid adenoma |
OMIM:617100 |
Interstitial Nephritis, Karyomegalic |
|
Elevated hepatic transaminase, Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, H... |
OMIM:614817 |
Meige Disease |
|
Angiosarcoma |
ORPHA:90186 |
Achondrogenesis Type 1B |
|
Thickened nuchal skin fold, Severe short stature, Polyhydramnios, Disproportionate short stature,... |
ORPHA:93298 |
Lynch Syndrome 8 |
|
Endometrial carcinoma |
OMIM:613244 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Premature birth, Nonimmune hydrops fetalis, Cardiomyopathy, Decreased liver function, Neonatal de... |
OMIM:618839 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Premature birth, Nonimmune hydrops fetalis, Decreased liver function, Neonatal death, Intrauterin... |
OMIM:618835 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Fetal aki... |
ORPHA:367 |
Endometrial Cancer |
|
Endometrial carcinoma |
OMIM:608089 |
Ollier Disease |
|
Chondrosarcoma, Visceral angiomatosis, Multiple enchondromatosis, Neoplasm, Hemangioma, Sarcoma |
ORPHA:296 |
Alg8-Cdg |
|
Elevated hepatic transaminase, Premature birth, Edema, Hydrops fetalis, Cutis laxa, Intrauterine ... |
ORPHA:79325 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Intrauterine growth... |
OMIM:620135 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Nonimmune hydrops fetalis, Pericardial effusion, Endocardial fibroelastosis, Restrictive cardiomy... |
OMIM:619313 |
Familial Colorectal Cancer Type X |
|
Benign neoplasm of the central nervous system, Renal neoplasm, Pancreatic adenocarcinoma, Gliobla... |
ORPHA:440437 |
Ovarian Fibromata |
|
Ovarian fibroma |
OMIM:166970 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors, ... |
ORPHA:101039 |
Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Pericardial effusion, Anhydramnios, Enlarged kidney |
OMIM:613885 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
Thyroid Cancer, Nonmedullary, 4 |
|
Basal cell carcinoma, Papillary thyroid carcinoma, Prostate cancer, Ovarian neoplasm |
OMIM:616534 |
Neurofibromatosis, Type I |
|
Astrocytoma, Rhabdomyosarcoma, Neurofibroma, Optic nerve glioma, Pheochromocytoma, Meningioma, Pl... |
OMIM:162200 |
Thomas Syndrome |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia |
ORPHA:3316 |
X-Linked Sideroblastic Anemia |
|
Elevated hepatic transaminase, Splenomegaly, Pallor |
ORPHA:75563 |
Congenital Toxoplasmosis |
|
Elevated hepatic transaminase, Hepatomegaly, Premature birth, Cardiomegaly, Jaundice, Intrauterin... |
ORPHA:858 |
Cantu Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Lymphedema, Congenital hypertrophy of ... |
OMIM:239850 |
Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Polycystic kidney dysplasia, Decreased liver function, Hepatic cysts |
OMIM:600666 |
Renal Tubular Dysgenesis |
|
Renotubular dysgenesis, Nephropathy, Proximal tubulopathy, Multiple renal cysts |
ORPHA:3033 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the pancreas, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, Medulloblastoma, ... |
ORPHA:247806 |
Achondrogenesis Type 1A |
|
Thickened nuchal skin fold, Severe short stature, Polyhydramnios, Hydrops fetalis, Umbilical hernia |
ORPHA:93299 |
Mast Cell Sarcoma |
|
Hepatomegaly, Sarcoma |
ORPHA:66661 |
Familial Atrial Myxoma |
|
Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Jaundice, Pedal edema, Cholestasis, Bacteria... |
ORPHA:615 |
Aicardi-Goutieres Syndrome 9 |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Acute pancreatitis, Edema, Portal hype... |
OMIM:619487 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Polyhydramnios, Cardiomegaly, Hydrops fetalis, Hypertrophic cardiomyop... |
OMIM:616897 |
Craniofaciofrontodigital Syndrome |
|
Persistent fetal circulation, Premature birth, Bicuspid aortic valve, Polyhydramnios, Edema, Peri... |
ORPHA:363705 |
Progressive Osseous Heteroplasia |
|
Sarcoma |
ORPHA:2762 |
Klippel-Trénaunay Syndrome |
|
Hepatomegaly, Edema, Hydrops fetalis, Abnormal tricuspid valve morphology, Atrial septal defect, ... |
ORPHA:90308 |
Cystic Hamartoma Of Lung And Kidney |
|
Multicystic kidney dysplasia |
ORPHA:2111 |
Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Torticollis, Brain neoplasm, Precocious puberty, Jaundice, Spinal cord ... |
ORPHA:370348 |
Lymphangiectasia, Pulmonary, Congenital |
|
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Mild postnatal g... |
OMIM:265300 |
Basal Cell Nevus Syndrome 2 |
|
Angiofibromas, Neurofibroma, Medulloblastoma, Basal cell carcinoma, Meningioma |
OMIM:620343 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Hypoplastic left heart, Anencephaly, Spina bifida |
ORPHA:2476 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Elevated circulating aspartate aminotransferase concentration, Nonimmune hydrops fetalis, Jaundic... |
OMIM:617049 |
Beta-Thalassemia |
|
Hepatomegaly, Splenomegaly, Hepatitis, Skin ulcer, Pallor, Cholelithiasis, Hypertrophic cardiomyo... |
ORPHA:848 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome... |
OMIM:263200 |
Thoraco-Abdominal Enteric Duplication |
|
Hepatomegaly, Meningocele, Abnormal tricuspid valve morphology, Dextrocardia |
ORPHA:1759 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Pericardial effusion, Splenomegaly, Hypersplenism, Pedal edema, Growth delay, Cirrh... |
ORPHA:77259 |
Boomerang Dysplasia |
|
Severe short-limb dwarfism, Hydrops fetalis, Polyhydramnios |
ORPHA:1263 |
Meckel Syndrome, Type 11 |
|
Polycystic kidney dysplasia |
OMIM:615397 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Overriding aorta, Ventricular septal defect, Nonimmune hydrops fetalis, Fetal pericardial effusio... |
OMIM:617021 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Hypertrophic cardiomyopathy, Pallor |
OMIM:612989 |
Gaucher Disease, Perinatal Lethal |
|
Decreased fetal movement, Hepatomegaly, Premature birth, Nonimmune hydrops fetalis, Polyhydramnio... |
OMIM:608013 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Short stature, Pallor |
ORPHA:2786 |
Familial Adenomatous Polyposis 1 |
|
Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medulloblastoma, Desmoid tumor... |
OMIM:175100 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
Infantile Myofibromatosis |
|
Benign neoplasm of the central nervous system, Neoplasm of the pancreas, Gingival fibromatosis, N... |
ORPHA:2591 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Cholelithiasis, Hy... |
OMIM:618775 |
Squamous Cell Carcinoma, Head And Neck |
|
Squamous cell carcinoma |
OMIM:275355 |
Meckel Syndrome, Type 9 |
|
Multicystic kidney dysplasia |
OMIM:614209 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior |
ORPHA:208441 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Diffuse leiomyomatosis, Vulvar neoplasm, Tracheobronchial leiomyomatosis, Vaginal neoplasm, Prote... |
ORPHA:1018 |
Rhyns Syndrome |
|
Abnormality of the liver, Multicystic kidney dysplasia, Nephronophthisis |
ORPHA:140976 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Splenomegaly, Hydrops fetalis, Prolonged neonatal jaundice |
ORPHA:766 |
Galactosialidosis |
|
Visceromegaly, Severe short stature, Nonimmune hydrops fetalis, Hepatosplenomegaly |
OMIM:256540 |
Lymphatic Malformation 6 |
|
Genital edema, Short stature, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Per... |
OMIM:616843 |
Bardet-Biedl Syndrome 4 |
|
Abnormality of the kidney, Renal cyst |
OMIM:615982 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Overriding aorta, Ventricular septal defect, Lymphedema, Hydrops fetalis, Atrial septal defect, O... |
OMIM:601927 |
Isolated Polycystic Liver Disease |
|
Hepatomegaly, Polycystic liver disease, Multiple renal cysts |
ORPHA:2924 |
Multiple Endocrine Neoplasia, Type Iv |
|
Pancreatic endocrine tumor, Pituitary adenoma, Carcinoma, Parathyroid adenoma, Renal angiomyolipo... |
OMIM:610755 |
Desmoid Tumor |
|
Fibroma, Neoplasm of the skin, Hydronephrosis, Desmoid tumors |
ORPHA:873 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Predominantly lower limb lymphedema, Palpebral edema, Hydrops fetalis, Pleural effusion, Ascites |
ORPHA:69735 |
American Trypanosomiasis |
|
Hepatomegaly, Edema, Periorbital edema, Splenomegaly, Myocarditis, Cardiomyopathy, Pallor |
ORPHA:3386 |
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Pericardial effusion |
OMIM:614684 |
Monosomy 9Q22.3 |
|
Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyosarcoma, Medulloblastoma, Cardiac f... |
ORPHA:77301 |
Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
Gm1-Gangliosidosis, Type I |
|
Hepatomegaly, Severe short stature, Abnormal heart valve morphology, Splenomegaly, Dilated cardio... |
OMIM:230500 |
Liposarcoma |
|
Sarcoma |
ORPHA:69078 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Decreased fetal movement, Short stature, Polyhydramnios, Pericardial effusion, Multiple muscular ... |
OMIM:620070 |
Tuberous Sclerosis 2 |
|
Chordoma, Astrocytoma, Angiofibromas, Retinal hamartoma, Absence of renal corticomedullary differ... |
OMIM:613254 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Growth delay, Pallor, Elevated hepatic iron concentration |
OMIM:615234 |
Hemoglobin D Disease |
|
Splenomegaly, Pallor |
ORPHA:90039 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Neonatal death, Hepatomegaly, Cystic renal dysplasia, Ectopic kidney |
OMIM:613730 |
Gardner Syndrome |
|
Neoplasm of the pancreas, Brain neoplasm, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, M... |
ORPHA:79665 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Atrial septal defect, Ventricular septal defect, Pallor, Short stature |
ORPHA:49827 |
Long Qt Syndrome 3 |
|
Nonimmune hydrops fetalis, Hydrops fetalis |
OMIM:603830 |
Idiopathic Neonatal Atrial Flutter |
|
Hydrops fetalis, Fetal distress |
ORPHA:45452 |
Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
Autism, Susceptibility To, 3 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... |
OMIM:608049 |
Dermatitis, Atopic |
|
Dry skin, Pallor, Facial erythema |
OMIM:603165 |
Joubert Syndrome 15 |
|
Exencephaly |
OMIM:614464 |
Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
Breath-Holding Spells |
|
Pallor |
OMIM:607578 |
Acute Peripheral Arterial Occlusion |
|
Pallor |
ORPHA:90064 |
Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
Hypocomplementemic Urticarial Vasculitis |
|
Hepatomegaly, Abnormal heart valve morphology, Pericardial effusion, Splenomegaly, Angioedema, Pl... |
ORPHA:36412 |
Ovarian Fibrothecoma |
|
Diffuse leiomyomatosis, Ovarian fibroma, Abnormal endometrium morphology, Gonadal calcification, ... |
ORPHA:314478 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Dystonia, Ataxia, Aggressive behavior, Tremor, Depression, Impaired social interactions, Dysphagi... |
OMIM:619738 |
Joubert Syndrome 16 |
|
Renal cyst, Nephronophthisis |
OMIM:614465 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Decreased fetal movement, Hydrops fetalis, Polyhydramnios |
OMIM:255320 |
Hsd10 Disease |
|
Ataxia, Tremor, Choreoathetosis, Gait disturbance, Dysphagia, Abnormal social behavior |
ORPHA:391417 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Bile duct polyp, Abnormality of the ureter, Biliary tract abnormality, ... |
OMIM:175200 |
Combined Oxidative Phosphorylation Defect Type 27 |
|
Nonimmune hydrops fetalis |
ORPHA:477774 |
Cyclic Vomiting Syndrome |
|
Growth delay, Cardiomyopathy, Pallor |
OMIM:500007 |
Drug-Induced Lupus Erythematosus |
|
Pericardial effusion, Pericarditis, Petechiae |
ORPHA:231111 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Pallor, Diffuse pancreatic islet hyperplasia, Hypertrophic cardiomyopathy, Focal pa... |
ORPHA:276575 |
Achondrogenesis, Type Ii |
|
Polyhydramnios, Edema, Disproportionate short-trunk short stature, Hydrops fetalis, Stillbirth, D... |
OMIM:200610 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Pallor, Diffuse pancreatic islet hyperplasia |
ORPHA:276556 |
Axial Osteomalacia |
|
Polycystic liver disease, Renal cyst |
OMIM:109130 |
Muir-Torre Syndrome |
|
Malignant genitourinary tract tumor, Laryngeal carcinoma, Breast carcinoma, Ovarian neoplasm, Ben... |
OMIM:158320 |
Lethal Congenital Contracture Syndrome 10 |
|
Overriding aorta, Ventricular septal defect, Cardiomegaly, Fetal akinesia sequence, Hydrops fetal... |
OMIM:617022 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Pancreatic adenocarcinoma, Renal insufficiency, Renal hamartoma, Testicular neoplasm, Fibroma, Ne... |
ORPHA:99880 |
Lymphatic Malformation 1 |
|
Hyperkeratosis over edematous areas, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis |
OMIM:153100 |
Tuberous Sclerosis 1 |
|
Chordoma, Astrocytoma, Ependymoma, Gingival fibromatosis, Cardiac rhabdomyoma, Renal cyst, Renal ... |
OMIM:191100 |
Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Cholestasis, Renal cyst, Hematuria, Renal tub... |
OMIM:610205 |
Hereditary Mixed Polyposis Syndrome |
|
Endometrial carcinoma, Juvenile colonic polyposis, Desmoid tumors, Thyroid carcinoma, Prostate ca... |
ORPHA:157794 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Lymphoproliferative Syndrome 1 |
|
Pericardial effusion, Hepatomegaly, Pleural effusion, Splenomegaly |
OMIM:613011 |
Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Elevated hepatic transaminase, Multiple renal cysts, Decreased liver function, Renal cyst |
OMIM:614883 |
Primary Intestinal Lymphangiectasia |
|
Peritoneal effusion, Edema, Pericardial effusion, Growth delay, Pleural effusion, Ascites, Genera... |
ORPHA:90362 |
Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Renal insufficiency, Renal hamartoma, Testicular neoplasm, Fibroma, Ne... |
ORPHA:143 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Pericardial effusion, Breech presentation, Increased myocardial glycogen content, B... |
OMIM:261740 |
Campomelia, Cumming Type |
|
Hepatomegaly, Lymphedema, Pancreatic cysts, Abnormality of the pancreas, Hydrops fetalis, Oligohy... |
ORPHA:1318 |
Mucopolysaccharidosis Type 7 |
|
Lymphedema, Splenomegaly, Hydrops fetalis, Hepatitis, Umbilical hernia, Ascites |
ORPHA:584 |
Nijmegen Breakage Syndrome |
|
Skeletal muscle atrophy, Glioma, B-cell lymphoma, Rhabdomyosarcoma, Lymphoma, T-cell lymphoma, Ac... |
ORPHA:647 |
Aicardi Syndrome |
|
Teratoma, Carcinoma, Lipoma, Hepatoblastoma, Metastatic angiosarcoma, Hemangioma |
OMIM:304050 |
Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Renal cyst |
OMIM:617056 |
Q Fever |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Peric... |
ORPHA:781 |
Mosaic Variegated Aneuploidy Syndrome |
|
Multicystic kidney dysplasia, Vaginal neoplasm, Rhabdomyosarcoma, Myelodysplasia, Acute lymphobla... |
ORPHA:1052 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Pallor, Diffuse pancreatic islet hyperplasia |
ORPHA:276580 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Anencephaly, Bile duct prol... |
OMIM:611134 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Hepatic cysts,... |
ORPHA:730 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pericardial effusion, Pleural effusion |
ORPHA:411703 |
Cowden Syndrome |
|
Hamartomatous polyposis, Neoplasm of the central nervous system, Neoplasm, Papilloma, Abnormality... |
ORPHA:201 |
Gaucher Disease Type 3 |
|
Hepatomegaly, Mitral valve calcification, Abnormal heart valve morphology, Pericardial effusion, ... |
ORPHA:77261 |
Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
Rhabdoid Tumor |
|
Renal neoplasm, Neoplasm of the central nervous system, Hematuria, Neoplasm of the liver, Sarcoma |
ORPHA:69077 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Splenomegaly, Hepatomegaly, Pallor, Lymphedema |
ORPHA:3226 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Dil... |
OMIM:609015 |
Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Hepatomegaly, Testicular neoplasm, Ovarian neoplasm, Neoplasm of the ce... |
ORPHA:83469 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Bifid scrotum, Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Embryonal rhabdomyosarc... |
OMIM:257300 |
Fanconi Anemia, Complementation Group O |
|
Hydronephrosis, Neonatal death, Stage 5 chronic kidney disease, Renal cyst |
OMIM:613390 |
Mosaic Trisomy 9 |
|
Ventricular septal defect, Dextrocardia, Polyhydramnios, Abnormal heart valve morphology, Aspleni... |
ORPHA:99776 |
Genitopalatocardiac Syndrome |
|
Hypospadias, Renal cyst |
OMIM:231060 |
Polysyndactyly With Cardiac Malformation |
|
Stillbirth, Hepatic cysts, Renal cyst |
OMIM:263630 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Elevated hepatic transaminase, Hydrops fetalis, Growth delay, Cardiomyopathy, Abnormality of the ... |
ORPHA:88618 |
Myelofibrosis |
|
Splenomegaly, Pallor, Purpura |
OMIM:254450 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Polycystic kidney dysplasia, Hepatic cysts |
OMIM:173900 |
Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Exaggerated startle response, Inappropriate behavior, Dystonia |
ORPHA:309246 |
Joubert Syndrome 20 |
|
Renal cyst |
OMIM:614970 |
Cancer-Associated Retinopathy |
|
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Testicular neoplasm, Hematological neoplasm,... |
ORPHA:71505 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hepatomegaly, Mild postnatal growth retardation, Splenomegaly, Hydrops fetalis, Prolonged neonata... |
OMIM:224120 |
Acalvaria |
|
Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Neoplasm of the adrenal cortex, Skeletal muscle atrophy, Visceral angiomatosis, Lymphoma, Hamarto... |
ORPHA:109 |
Hemihyperplasia, Isolated |
|
Myelomeningocele |
OMIM:235000 |
Trisomy X |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia |
ORPHA:3375 |
Cold Agglutinin Disease |
|
Splenomegaly, Hepatomegaly, Pallor |
ORPHA:56425 |
Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Pancreatic cysts, Pulmonary capillary hemangiomatosis, Spinal hemangiob... |
OMIM:193300 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Spina bifida, Mitral valve prolapse |
OMIM:211960 |
Leishmaniasis |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Skin ulcer, Pallor |
ORPHA:507 |
Neural Tube Defects, Susceptibility To |
|
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus |
OMIM:182940 |
Elliptocytosis 1 |
|
Splenomegaly, Jaundice, Pallor |
OMIM:611804 |
Trisomy 13 |
|
Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect, Hydrops fetalis |
ORPHA:3378 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Nonimmune hydrops fetalis, Edema, Peri... |
OMIM:212065 |
Acute Myelomonocytic Leukemia |
|
Pallor |
ORPHA:517 |
Combined Oxidative Phosphorylation Deficiency 57 |
|
Left ventricular noncompaction cardiomyopathy, Nonimmune hydrops fetalis, Fetal pleural effusion,... |
OMIM:620167 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Stillbir... |
OMIM:614922 |
Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy, Cirrhosi... |
OMIM:235200 |
Hereditary Elliptocytosis |
|
Postnatal growth retardation, Splenomegaly, Jaundice, Hydrops fetalis, Prolonged neonatal jaundic... |
ORPHA:288 |
Nijmegen Breakage Syndrome |
|
Glioma, Rhabdomyosarcoma, Lymphoma, Medulloblastoma, Hydronephrosis |
OMIM:251260 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Pericardial lymphangiectasia, Ventricular septal defect, Nonimmune hydrops fetalis, Mild postnata... |
OMIM:235510 |
Campomelia, Cumming Type |
|
Pancreatic cysts, Polycystic liver disease, Polycystic kidney dysplasia |
OMIM:211890 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatosplenomegaly, Hepatomegaly, Pallor, Cardiomegaly |
ORPHA:99931 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Cardiomegaly, Microv... |
OMIM:212140 |
Rheumatic Fever |
|
Pericarditis, Abnormal heart valve morphology, Myocarditis, Erythema, Endocarditis, Abnormal aort... |
ORPHA:3099 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pancreatic islet-cell hyperplasia, Pallor |
ORPHA:276608 |
Terminal Osseous Dysplasia |
|
Fibroma |
OMIM:300244 |
Nephronophthisis 4 |
|
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... |
OMIM:606966 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Pericardial effusion, Jau... |
ORPHA:26793 |
Primary Myelofibrosis |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Hepatosplenomegaly, Pallor, Ecchymosis, Petechia... |
ORPHA:824 |
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:3270 |
Cardiomyopathy, Dilated, 1A |
|
Pericardial effusion, Dilated cardiomyopathy |
OMIM:115200 |
Primary Lateral Sclerosis, Juvenile |
|
Pallor |
OMIM:606353 |
Renal Coloboma Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... |
ORPHA:1475 |
Lymphatic Malformation 13 |
|
Nonimmune hydrops fetalis, Lymphedema, Fetal pericardial effusion, Single umbilical artery, Neona... |
OMIM:620244 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Pallor, Cholelithiasis |
OMIM:194380 |
Beta-Thalassemia Intermedia |
|
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Jaundice, Skin ulcer, Hepatosplenomegaly, A... |
ORPHA:231222 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Attention deficit hyperactivity disorder, Abnormal social behavior, Compulsive behaviors |
ORPHA:444002 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Renal hypoplasia, Renal cyst, Ureteral agenesis, Stillbirth, Neonatal death, Renal dysplasia |
OMIM:236500 |
Familial Adenomatous Polyposis |
|
Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Angiofibromas, Papillary thyroid carcinoma, Ad... |
ORPHA:733 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Neonatal death, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
Meckel Syndrome 13 |
|
Polycystic kidney dysplasia |
OMIM:617562 |
Platyspondylic Dysplasia, Torrance Type |
|
Disproportionate short-limb short stature, Hydrops fetalis, Polyhydramnios |
ORPHA:85166 |
Say Syndrome |
|
Proximal renal tubular acidosis, Cystic renal dysplasia |
OMIM:181180 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Hematuria, Renal insufficiency, Renal cyst |
OMIM:611773 |
Irida Syndrome |
|
Intrahepatic cholestasis, Pallor |
ORPHA:209981 |
Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Short stature, Pallor, Hepatosplenomegaly |
OMIM:611590 |
Hereditary Spherocytosis |
|
Hepatomegaly, Restrictive cardiomyopathy, Splenomegaly, Jaundice, Skin ulcer, Growth delay, Pallo... |
ORPHA:822 |
Nephronophthisis 1 |
|
Polyuria, Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Hyposthenuria... |
OMIM:256100 |
Cardiac Valvular Dysplasia 1 |
|
Ventricular septal defect, Left atrial enlargement, Edema, Tricuspid stenosis, Valvular pulmonary... |
OMIM:212093 |
Farber Disease |
|
Elevated hepatic transaminase, Intrahepatic cholestasis with episodic jaundice, Short stature, Hy... |
ORPHA:333 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Hydrops fetalis |
OMIM:616738 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Macrovesicular... |
OMIM:600649 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Jaundice, Stage 5 chronic ... |
OMIM:613095 |
Joubert Syndrome 18 |
|
Intrahepatic biliary atresia, Renal cyst, Horseshoe kidney |
OMIM:614815 |
Meckel Syndrome, Type 3 |
|
Hepatomegaly, Multicystic kidney dysplasia, Malformation of the hepatic ductal plate, Bile duct p... |
OMIM:607361 |
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome |
|
Ureteral duplication, Endometrial carcinoma, Breast carcinoma, Duplication of renal pelvis, Melanoma |
ORPHA:457212 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Pallor |
ORPHA:324575 |
Pearson Marrow-Pancreas Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Erythema, Hydrops fetalis, Dehy... |
OMIM:557000 |
Kaposiform Lymphangiomatosis |
|
Pericardial effusion, Splenomegaly, Pancreatic cysts, Hepatosplenomegaly, Abnormal spleen morphol... |
ORPHA:464329 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the nose, Pancreatic adenocarcinoma, Biliary tract neoplasm, Esophageal neoplasm, Enl... |
ORPHA:2869 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Cardiomyopathy, Left ventricular hyper... |
OMIM:617713 |
Gm1 Gangliosidosis |
|
Premature birth, Ventricular septal defect, Short stature, Splenomegaly, Hydrops fetalis, Abnorma... |
ORPHA:354 |
Acute Interstitial Pneumonia |
|
Pericardial effusion, Pleural effusion, Peripheral edema |
ORPHA:79126 |
17Q11 Microdeletion Syndrome |
|
Multiple mucosal neuromas, Brain neoplasm, Pheochromocytoma, Myelodysplasia, Precocious puberty, ... |
ORPHA:97685 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Hepatomegaly, Polycystic kidney dysplasia |
OMIM:614859 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Pericardial effusion, Cardiomyopathy |
OMIM:620089 |
Ring Chromosome 12 Syndrome |
|
Cryptorchidism, Uterine leiomyoma, Glandular hypospadias, Hemangioma |
ORPHA:1439 |
Evans Syndrome |
|
Jaundice, Pallor, Petechiae |
ORPHA:1959 |
Diethylstilbestrol Syndrome |
|
Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... |
ORPHA:1916 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Severe short stature, Hydrops fetalis, Abnormal heart morphology, Single umbilical... |
ORPHA:1865 |
Trisomy 1Q |
|
Increased nuchal translucency, Ventricular septal defect, Hydrops fetalis, Polyhydramnios |
ORPHA:261344 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Ascites, Hepatic fibrosis, Hydrops fetalis, Short stature |
OMIM:614091 |
Kcnq2-Related Epileptic Encephalopathy |
|
Pallor, Cerebral edema, Facial erythema |
ORPHA:439218 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Hepatomegaly, Jaundice, Pallor |
OMIM:613839 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Fibrosarcoma, Histiocytoma, Osteosarcoma |
OMIM:112250 |
Alg9-Cdg |
|
Thickened nuchal skin fold, Decreased fetal movement, Hepatomegaly, Ventricular septal defect, He... |
ORPHA:79328 |
Meckel Syndrome, Type 2 |
|
Encephalocele, Meningocele, Anencephaly, Bile duct proliferation, Intrauterine growth retardation |
OMIM:603194 |
Alkuraya-Kucinskas Syndrome |
|
Pericardial effusion, Pleural effusion, Edema |
OMIM:617822 |
Mucopolysaccharidosis, Type Vii |
|
Hepatomegaly, Severe short stature, Abnormal heart valve morphology, Short stature, Postnatal gro... |
OMIM:253220 |
Coach Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Unilateral renal agenesis, Mult... |
OMIM:216360 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Hepatic cysts, Malformation of the hepatic ductal plate, Cholestasis, Stillbirth, H... |
OMIM:615415 |
Yellow Nail Syndrome |
|
Renal neoplasm, Biliary tract neoplasm, Neoplasm of the lung, Neoplasm, Nephropathy, Sarcoma |
ORPHA:662 |
Pediatric Systemic Lupus Erythematosus |
|
Pericardial effusion, Pleural effusion, Ascites, Edema |
ORPHA:93552 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Endometrial carcinoma, Jaundice, Male pseudohermaphroditism, Breast carcinoma, Macroorchidism, Ab... |
ORPHA:90790 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Pallor |
ORPHA:90037 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Short stature, Splenomegaly, Hydrops fetalis, Hepatosplenomegaly, Hypertrophic card... |
OMIM:613673 |
Subependymal Nodular Heterotopia |
|
Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele |
ORPHA:101030 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Ventricular septal defect, Situs inversus totalis, Hydrocephalus, Meningocele, Ane... |
ORPHA:1908 |
Dominant Beta-Thalassemia |
|
Hypersplenism, Splenomegaly, Jaundice, Dilated cardiomyopathy, Skin ulcer, Chronic hepatitis, Hep... |
ORPHA:231226 |
Fanconi Anemia, Complementation Group I |
|
Ventricular septal defect, Short stature, Pallor, Atrial septal defect, Intrauterine growth retar... |
OMIM:609053 |
Greenberg Dysplasia |
|
Hepatomegaly, Rhizomelia, Nonimmune hydrops fetalis, Polyhydramnios, Echogenic fetal bowel, Large... |
OMIM:215140 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Short stature, Nonimmune hydrops fetalis |
OMIM:618265 |
Cardiac-Urogenital Syndrome |
|
Accessory spleen, Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus... |
OMIM:618280 |
Diaphanospondylodysostosis |
|
Multiple renal cysts |
ORPHA:66637 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Vesicoureteral reflux, Multiple renal cysts, Renal hypoplasia/aplasia |
ORPHA:1166 |
Sepsis In Premature Infants |
|
Hepatomegaly, Premature birth, Edema, Splenomegaly, Jaundice, Decreased liver function, Pallor, C... |
ORPHA:90051 |
Schneckenbecken Dysplasia |
|
Nonimmune hydrops fetalis, Polyhydramnios, Stillbirth, Disproportionate short-limb short stature,... |
OMIM:269250 |
Spontaneous Periodic Hypothermia |
|
Pallor |
ORPHA:29822 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Pericardial effusion, Abnormal myocardium morphology, Dilated cardiomyopathy |
ORPHA:300751 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Fibroma, Hepatosplenomegaly |
OMIM:619750 |
Bardet-Biedl Syndrome 6 |
|
Hypospadias, Renal cyst |
OMIM:605231 |
Poems Syndrome |
|
Edema, Pericardial effusion, Pleural effusion, Ascites, Visceromegaly |
ORPHA:2905 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Dark urine, Jaundice, Cholesta... |
ORPHA:79303 |
Joubert Syndrome 7 |
|
Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis |
OMIM:611560 |
Cranioectodermal Dysplasia 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Short stature, Cholangitis, Polyhydramnios, Rhizomel... |
OMIM:613610 |
Pulmonary Capillary Hemangiomatosis |
|
Pericardial effusion, Pleural effusion, Pedal edema, Pulmonary edema |
ORPHA:199241 |
Gm1 Gangliosidosis Type 1 |
|
Hydrops fetalis, Hepatosplenomegaly, Cardiomyopathy, Abnormal placenta morphology, Intrauterine g... |
ORPHA:79255 |
Meckel Syndrome, Type 5 |
|
Bile duct proliferation, Renal cyst |
OMIM:611561 |
Lamb-Shaffer Syndrome |
|
Hyperactivity, Ataxia, Abnormal temper tantrums, Abnormal social behavior, Abnormal repetitive ma... |
ORPHA:530983 |
Tuberous Sclerosis Complex |
|
Angiofibromas, Pancreatic endocrine tumor, Subependymal giant-cell astrocytoma, Renal cyst, Pheoc... |
ORPHA:805 |
Achondrogenesis, Type Ia |
|
Polyhydramnios, Increased nuchal translucency, Disproportionate short-trunk short stature, Hydrop... |
OMIM:200600 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly |
OMIM:619064 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortical cysts, Proxi... |
OMIM:231680 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Polyhydramnios, Pericardial effusion, Anasarca, Pleural effusion, Ascites |
OMIM:618183 |
Multiple Endocrine Neoplasia Type 4 |
|
Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary prolactin cell adenoma, Carcinoid ... |
ORPHA:276152 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Renal cyst, Proximal tubulopathy, Hepatic fibrosis, Cirrhosis, Hepatic failure |
OMIM:602579 |
Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... |
OMIM:120330 |
Acquired Idiopathic Sideroblastic Anemia |
|
Splenomegaly, Hepatomegaly, Pallor |
ORPHA:75564 |
Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Jaundice, Right atrial enlargement, Peripher... |
ORPHA:57777 |
Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Palpebral edema |
OMIM:607823 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Uterine leiomyoma, Urinary incontinence, Exostoses |
OMIM:616482 |
Beta-Thalassemia Major |
|
Hepatomegaly, Hypersplenism, Splenomegaly, Jaundice, Dilated cardiomyopathy, Skin ulcer, Hepatosp... |
ORPHA:231214 |
Tumor Predisposition Syndrome 2 |
|
Acute myeloid leukemia, Schwannoma, Uveal melanoma, Juvenile type ovarian granulosa cell tumor, D... |
OMIM:619975 |
Joubert Syndrome 35 |
|
Recurrent urinary tract infections, Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis |
OMIM:618161 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Malformation of the hepati... |
OMIM:208540 |
Schisis Association |
|
Encephalocele, Anencephaly, Spina bifida |
ORPHA:63862 |
Osteogenesis Imperfecta, Type Ii |
|
Disproportionate short-limb short stature, Premature birth, Nonimmune hydrops fetalis |
OMIM:166210 |
Retinoblastoma |
|
Lymphoma, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma |
OMIM:180200 |
Prune Belly Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Hydroureter, Recurrent urinary tract infection... |
ORPHA:2970 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Dermal translucency, Palpebral edema, Nonimmune hydrops fetalis, Lymphedema |
OMIM:137940 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic islet-cell hyperplasia, Pallor, Increased... |
ORPHA:263455 |
Retinitis Pigmentosa 51 |
|
Pallor |
OMIM:613464 |
Waldenström Macroglobulinemia |
|
Hepatomegaly, Periorbital edema, Splenomegaly, Pedal edema, Pallor, Pleural effusion, Purpura |
ORPHA:33226 |
Senior-Loken Syndrome 8 |
|
Pancreatic cysts, Pallor, Hepatic cysts, Intrahepatic bile duct dilatation |
OMIM:616307 |
Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
Fibrochondrogenesis 1 |
|
Rhizomelia, Stillbirth, Patent foramen ovale, Hydrops fetalis |
OMIM:228520 |
Aicardi-Goutieres Syndrome 7 |
|
Hepatomegaly, Edema, Pericardial effusion, Splenomegaly, Hepatitis, Intrauterine growth retardati... |
OMIM:615846 |
Hennekam Syndrome |
|
Mild postnatal growth retardation, Lymphedema, Pericardial effusion, Splenomegaly, Hydrops fetali... |
ORPHA:2136 |
Childhood Absence Epilepsy |
|
Abnormal social behavior, Punding, Attention deficit hyperactivity disorder, Depression |
ORPHA:64280 |
Meckel Syndrome, Type 6 |
|
Absent gallbladder, Renal cyst, Horseshoe kidney, Cystic liver disease, Aplasia of the bladder, B... |
OMIM:612284 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo... |
OMIM:602088 |
Acromesomelic Dysplasia, Grebe Type |
|
Sarcoma |
ORPHA:2098 |
Renal Hypoplasia, Bilateral |
|
Proteinuria, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta 2-microglobulin... |
ORPHA:97362 |
Renal Cysts And Diabetes Syndrome |
|
Elevated hepatic transaminase, Multiple glomerular cysts, Hypospadias, Proteinuria, Unilateral re... |
OMIM:137920 |
Pearson Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Postnatal growth retardation, S... |
ORPHA:699 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
Neurooculocardiogenitourinary Syndrome |
|
Redundant neck skin, Ventricular septal defect, Cardiomegaly, Atrial septal defect, Patent forame... |
OMIM:618652 |
Triploidy |
|
Hepatomegaly, Abnormality of the pancreas, Hydrocephalus, Meningocele, Abnormality of the gallbla... |
ORPHA:3376 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Splenomegaly, Jaundice, Pallor |
ORPHA:90033 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hepatomegaly, Pallor |
OMIM:246450 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Elevated hepatic transaminase, Hepatosplenomegaly, Growth delay, Pallor, Elevated hepatic iron co... |
ORPHA:300298 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Growth delay, Anemic pallor, Edema |
ORPHA:329971 |
Meckel Syndrome, Type 10 |
|
Micropenis, Renal cyst, Hypospadias, Malformation of the hepatic ductal plate |
OMIM:614175 |
Craniorachischisis |
|
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism |
ORPHA:63260 |
Fraser Syndrome 3 |
|
Sonographic non-visualized fetal bladder, Nonimmune hydrops fetalis, Stillbirth, Ascites, Oligohy... |
OMIM:617667 |
Nephronophthisis 11 |
|
Polyuria, Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:613550 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... |
OMIM:255120 |
Nevus Comedonicus Syndrome |
|
Spina bifida occulta, Spina bifida |
ORPHA:64754 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Elevated hepatic transaminase, Left atrial enlargement, Elevated circula... |
OMIM:300280 |
Mutyh-Related Attenuated Familial Adenomatous Polyposis |
|
Desmoid tumors, Adenocarcinoma of the colon |
ORPHA:247798 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Edema, Jaundice, Dilated cardiom... |
ORPHA:20 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Intrauterine growth retardation, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:619051 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Pallor, Edema, Dehydration |
ORPHA:134 |
Werner Syndrome |
|
Renal neoplasm, Acral lentiginous melanoma, Breast carcinoma, Squamous cell carcinoma, Neoplasm o... |
ORPHA:902 |
Fryns Microphthalmia Syndrome |
|
Neural tube defect |
OMIM:600776 |
Axial Mesodermal Dysplasia Spectrum |
|
Renal hypoplasia/aplasia, Abnormality of the ureter, Renal cyst, Abnormal localization of kidney,... |
ORPHA:1834 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:85447 |
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... |
ORPHA:2973 |
Letterer-Siwe Disease |
|
Jaundice, Pallor, Hepatosplenomegaly |
OMIM:246400 |
Chiari Malformation Type Ii |
|
Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida |
OMIM:207950 |
Bor Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu... |
ORPHA:107 |
Lymphedema-Distichiasis Syndrome |
|
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Ventricular septal defect, Lymphe... |
OMIM:153400 |
Congenital Myopathy 22B, Severe Fetal |
|
Decreased fetal movement, Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Breech present... |
OMIM:620369 |
Senior-Boichis Syndrome |
|
Elevated hepatic transaminase, Thickening of the tubular basement membrane, Malformation of the h... |
ORPHA:84081 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly, Lymphedema |
ORPHA:3137 |
Fumarase Deficiency |
|
Bilateral fetal pyelectasis, Polyhydramnios, Intrahepatic cholestasis, Perimembranous ventricular... |
OMIM:606812 |
Costello Syndrome |
|
Renal insufficiency, Rhabdomyosarcoma, Achilles tendon contracture, Bladder carcinoma, Macrogloss... |
OMIM:218040 |
Caudal Duplication |
|
Myelomeningocele, Spina bifida |
ORPHA:1756 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Hepatomegaly, Renal cyst |
OMIM:614862 |
Lymphedema-Distichiasis Syndrome |
|
Tubulointerstitial nephritis, Fibrosarcoma, Proteinuria |
ORPHA:33001 |
Senior-Loken Syndrome 3 |
|
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis |
OMIM:606995 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Jaundice, Dilated cardiomyopathy, Hydrops fetalis, Dehydration, Abnormal heart morphology, Growth... |
ORPHA:79282 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Pericardial effusion, Dilated cardiomyopathy, Hepatic calcification, Pulmonary edema |
ORPHA:73224 |
Wildervanck Syndrome |
|
Meningocele |
ORPHA:3456 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Bicuspid aortic valve, Spina bifida, Patent ductus arteriosus, Anomalous pulmonary venous return,... |
ORPHA:1120 |
Myopathic Ehlers-Danlos Syndrome |
|
Pallor |
ORPHA:536516 |
Nephronophthisis-Like Nephropathy 1 |
|
Tubular basement membrane disintegration, Pancreatic cysts, Stage 5 chronic kidney disease, Renal... |
OMIM:613159 |
Meckel Syndrome, Type 7 |
|
Multicystic kidney dysplasia, Multiple glomerular cysts, Portal hypertension, Pancreatic cysts, B... |
OMIM:267010 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hepatomegaly, Bilateral fetal pyelectasis, Polyhydramnios, Breech presentation, Microvesicular he... |
OMIM:300868 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Growth delay, Pallor, Delayed puberty |
OMIM:600462 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Elevated circulating aspa... |
OMIM:614921 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Congenital hepatic fibrosis, Multicystic kidney dysplasia, Renal cyst |
ORPHA:2031 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Pericardial effusion, Umbilical hernia, Redundant skin, Mitral valve prolapse |
ORPHA:536532 |
Chédiak-Higashi Syndrome |
|
Elevated hepatic transaminase, Edema, Pericardial effusion, Splenomegaly, Jaundice, Hepatosplenom... |
ORPHA:167 |
Gaucher Disease |
|
Hepatomegaly, Mitral valve calcification, Abnormal heart valve morphology, Abnormal pericardium m... |
ORPHA:355 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Splenomegaly, Jaundice, Pallor, Prolonged neonatal jaundice |
OMIM:300908 |
Dravet Syndrome |
|
Pallor |
ORPHA:33069 |
Mucopolysaccharidosis, Type Iiib |
|
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly |
OMIM:252920 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Elevated hepatic transaminase, Short stature, Pallor |
ORPHA:98870 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Abnormal social behavior, Agitation, Ataxia, Disinhibition |
ORPHA:1020 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Cardiomegaly, Hepatocellular necrosis, Periportal fibrosis, Hypertrophic cardiomyop... |
OMIM:201475 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Thickened nuchal skin fold, Bicuspid aortic valve, Nonimmune hydrops fetalis, Polyhydramnios, Par... |
OMIM:265380 |
Verheij Syndrome |
|
Renal agenesis, Renal hypoplasia, Renal cyst |
OMIM:615583 |
3-Methylglutaconic Aciduria Type 7 |
|
Elevated hepatic transaminase, Renal insufficiency, Renal cyst, Nephrocalcinosis, 3-Methylglutaco... |
ORPHA:445038 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Decreased liver function, Hepatic stea... |
ORPHA:42 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Polyhydramnios, Anencephaly, Hydrops fetalis, Atrial septal defect, Occipital meningocele |
OMIM:616546 |
Humero-Radial Synostosis |
|
Meningocele |
ORPHA:3265 |
Isolated Klippel-Feil Syndrome |
|
Ventricular septal defect, Spina bifida |
ORPHA:2345 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Elevated hepatic transaminase, Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency,... |
ORPHA:93111 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Pallor |
ORPHA:348 |
Muscle-Eye-Brain Disease |
|
Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:588 |
Bardet-Biedl Syndrome 17 |
|
Polyuria, Micropenis, Stage 5 chronic kidney disease, Renal cyst |
OMIM:615994 |
Peroxisome Biogenesis Disorder 1B |
|
Hepatomegaly, Hyperoxaluria, Renal cyst, Hepatic fibrosis, Cirrhosis |
OMIM:601539 |
Non-Functioning Paraganglioma |
|
Pallor |
ORPHA:94080 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Cardiomegaly, Splenomegaly, Joint swelling... |
ORPHA:465508 |
Femoral-Facial Syndrome |
|
Long penis, Abnormal localization of kidney, Polycystic kidney dysplasia, Renal hypoplasia/aplasia |
ORPHA:1988 |
Cystic Echinococcosis |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Renal cyst, Membranous nephropathy, Choles... |
ORPHA:400 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Pallor, Hepatosplenomegaly |
ORPHA:331206 |
Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Pedal edema, Abnormal heart morphology, Right ventricular di... |
ORPHA:2041 |
Mgat2-Cdg |
|
Ventricular septal defect, Hydrops fetalis, Abnormal heart morphology |
ORPHA:79329 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Pancreatic fibrosis, Ventricular septal defect, Hydrops fetalis, Hepatic fibrosis, Atrial septal ... |
OMIM:263520 |
Heterotaxy, Visceral, 1, X-Linked |
|
Polyhydramnios, Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arterie... |
OMIM:306955 |
Timothy Syndrome |
|
Ventricular septal defect, Cardiomegaly, Single umbilical artery, Tetralogy of Fallot, Patent for... |
OMIM:601005 |
Gastrointestinal Stromal Tumor |
|
Gastrointestinal stroma tumor, Abnormality of the liver, Esophageal neoplasm, Sarcoma |
ORPHA:44890 |
17Q12 Microdeletion Syndrome |
|
Elevated hepatic transaminase, Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasi... |
ORPHA:261265 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Gait ataxia, Progressive gait ataxia, Tip-toe gait, Dystonia, Emotional lability, Abnormal social... |
ORPHA:309256 |
Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Pedal edema, Atrial septal defect, Patent foram... |
ORPHA:439 |
Acropectorovertebral Dysplasia |
|
Spina bifida |
ORPHA:957 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Red-brown urine, Stage 5 chronic kidney disease, Hepatic calcification, Renal tubul... |
ORPHA:157 |
Anemia, Sideroblastic, 1 |
|
Anemic pallor |
OMIM:300751 |
Aymé-Gripp Syndrome |
|
Pericardial effusion, Pericarditis, Postnatal growth retardation, Short stature |
ORPHA:1272 |
Bardet-Biedl Syndrome |
|
Multicystic kidney dysplasia, Hypoplasia of penis, Nephrotic syndrome, Hepatic fibrosis |
ORPHA:110 |
Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
Mogs-Cdg |
|
Hepatomegaly, Generalized edema, Polyhydramnios, Cardiomegaly, Edema, Hepatosplenomegaly, Atrial ... |
ORPHA:79330 |
Blomstrand Lethal Chondrodysplasia |
|
Rhizomelia, Premature birth, Polyhydramnios, Hydrops fetalis, Neonatal short-limb short stature |
ORPHA:50945 |
Branchiootorenal Syndrome 1 |
|
Renal malrotation, Unilateral renal agenesis, Renal steatosis, Polycystic kidney dysplasia, Vesic... |
OMIM:113650 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... |
ORPHA:3092 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... |
ORPHA:53035 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Postnatal growth retardation, Dehydration,... |
ORPHA:96191 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Ureteral stenosis, Hydroureter, Hypercalciuria, Renal cyst, Nephrocalcinosis |
OMIM:615398 |
Phocomelia, Schinzel Type |
|
Intrauterine growth retardation, Disproportionate short stature, Meningocele, Hydrops fetalis |
ORPHA:2879 |
Capillary Malformation-Arteriovenous Malformation |
|
Chylothorax, Abnormal heart morphology, Nonimmune hydrops fetalis, Lymphedema |
ORPHA:137667 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated hepatic transaminase, Hepatomegaly, Ureteral duplication, Renal insufficiency, Renal dys... |
OMIM:608836 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Pallor |
ORPHA:90036 |
Perlman Syndrome |
|
Renal hamartoma, Congenital diaphragmatic hernia, Hypoplasia of the abdominal wall musculature, C... |
OMIM:267000 |
Crimean-Congo Hemorrhagic Fever |
|
Hepatomegaly, Acute pancreatitis, Pericardial effusion, Myocarditis, Splenomegaly, Jaundice, Hemo... |
ORPHA:99827 |
Vacterl/Vater Association |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, A... |
ORPHA:887 |
Osteogenic Sarcoma |
|
Retinoblastoma, Osteosarcoma |
OMIM:259500 |
Fetal Akinesia Deformation Sequence 1 |
|
Decreased fetal movement, Premature birth, Nonimmune hydrops fetalis, Polyhydramnios, Fetal akine... |
OMIM:208150 |
Myhre Syndrome |
|
Ventricular septal defect, Short stature, Pericardial effusion, Birth length less than 3rd percen... |
OMIM:139210 |
Idiopathic Hypereosinophilic Syndrome |
|
Elevated hepatic transaminase, Cholangitis, Splenomegaly, Angioedema, Dilated cardiomyopathy, Hep... |
ORPHA:3260 |
Attrv122I Amyloidosis |
|
Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ventricular hypertrophy, R... |
ORPHA:85451 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Pallor, Pulmonary edema |
ORPHA:137675 |
Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Polyhydramnios, Edema, Pericardial effusion, Cardiomegaly, Hydrops fetal... |
ORPHA:51608 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Red-brown urine, Hepatic calcification,... |
ORPHA:228308 |
Niemann-Pick Disease Type C |
|
Hepatomegaly, Fetal ascites, Splenomegaly, Jaundice, Hydrops fetalis, Hepatosplenomegaly, Abnorma... |
ORPHA:646 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Periportal fibrosis, Polycystic kidney dysplasia |
OMIM:263210 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Restlessness, Abnormal fear-induced behavior, Depression, Agitation, Difficulty walking |
ORPHA:100924 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Decreased fetal movement, Umbilical hernia, Short stature, Hydrops fetalis |
OMIM:265000 |
Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Hydrops fetalis |
ORPHA:268249 |
Yunis-Varon Syndrome |
|
Redundant neck skin, Ventricular septal defect, Short stature, Polyhydramnios, Cardiomegaly, Post... |
ORPHA:3472 |
Diaphanospondylodysostosis |
|
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Abnormal liver lobulation, Cystic renal ... |
OMIM:608022 |
Czeizel-Losonci Syndrome |
|
Dextrocardia, Spina bifida, Myelomeningocele, Hydrocephalus, Spina bifida occulta |
ORPHA:2437 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Fetal polyuria, Premature birth, Polyhydramnios, Edema, Hydrops fetalis |
OMIM:602522 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
Myopathy, Mitochondrial, And Ataxia |
|
Growth delay, Short stature, Pallor |
OMIM:617675 |
Lethal Acantholytic Erosive Disorder |
|
Cardiomyopathy, Intrauterine growth retardation, Cardiomegaly, Oligohydramnios |
ORPHA:158687 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... |
ORPHA:731 |
Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Elevated urinary catecholamine level, Pancreatic islet cell adenoma, Pa... |
ORPHA:892 |
Refractory Anemia With Excess Blasts |
|
Anemic pallor, Pedal edema |
ORPHA:86839 |
Bardet-Biedl Syndrome 12 |
|
Hydronephrosis, Hydroureter, Cystic renal dysplasia |
OMIM:615989 |
Arima Syndrome |
|
Hepatomegaly, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedu... |
OMIM:243910 |
Cone-Rod Dystrophy 8 |
|
Pallor |
OMIM:605549 |
Tsh-Secreting Pituitary Adenoma |
|
Pericardial effusion, Pallor, Delayed puberty |
ORPHA:91347 |
Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,... |
ORPHA:18 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Progressive gait ataxia, Dystonia, Emotional lability, Abnormal social behavior, Intention tremor |
ORPHA:309263 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Renal insufficiency, Polycystic liver disease, Proteinuria, Pancreatic cysts, Jaundice, Chronic k... |
OMIM:208500 |
Chromosome 17Q12 Deletion Syndrome |
|
Elevated hepatic transaminase, Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent... |
OMIM:614527 |
Tay-Sachs Disease |
|
Pallor |
OMIM:272800 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Exencephaly |
ORPHA:2211 |
Mody |
|
Abnormality of the kidney, Hepatocellular adenoma, Renal cyst, Glycosuria, Nephropathy |
ORPHA:552 |
Pallister-Hall Syndrome |
|
Renal dysplasia, Hydroureter, Distal urethral duplication, Midline facial capillary hemangioma, E... |
OMIM:146510 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Hypersplenism, Splenomegaly, Hepatitis, Hydrops fetalis, Hepatocellular carcinoma |
ORPHA:3261 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... |
OMIM:231005 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Renal insufficiency, Parathormone-independent increased renal tubular calcium reabsorption, Multi... |
OMIM:600740 |
Distal Triplication 15Q |
|
Abnormality of the kidney, Dilatation of the renal pelvis, Horseshoe kidney, Polycystic kidney dy... |
ORPHA:314588 |
Steinert Myotonic Dystrophy |
|
Elevated hepatic transaminase, Endometrial carcinoma, Skeletal muscle atrophy, Brain neoplasm, Hy... |
ORPHA:273 |
Lymphangioleiomyomatosis |
|
Renal neoplasm, Abnormal urinary color, Retinal hamartoma, Renal angiomyolipoma, Hematuria, Multi... |
ORPHA:538 |
Isolated Posterior Meningocele |
|
Hydrocephalus, Meningocele, Lipomyelomeningocele, Neural tube defect, Occipital meningocele |
ORPHA:268810 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Low 5-minute APGAR score, Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextro... |
ORPHA:99125 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Intrauterine growth retardation, Spina bifida |
ORPHA:1327 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Portal hypertension, Pancreatic cysts, Hepatitis, Cholestasis, Renal cyst, Hepatic ... |
OMIM:610199 |
Joubert Syndrome With Hepatic Defect |
|
Elevated hepatic transaminase, Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, P... |
ORPHA:1454 |
Turcot Syndrome With Polyposis |
|
Glioblastoma multiforme, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Glioma, Pilomatrixoma... |
ORPHA:99818 |
Lhermitte-Duclos Disease |
|
Trichilemmoma, Fibroadenoma of the breast, Neoplasm of the thyroid gland, Ovarian neoplasm |
ORPHA:65285 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Hydroureter, Recu... |
ORPHA:79404 |
Trisomy 17P |
|
Hypoplasia of penis, Urethral valve, Urethral stenosis, Polycystic kidney dysplasia, Hydronephrosis |
ORPHA:261290 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Glutaric aciduria, Lacticaciduria, 3-Methylglutaric ... |
ORPHA:26791 |
Caroli Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port... |
ORPHA:480520 |
Diamond-Blackfan Anemia |
|
Ventricular septal defect, Nonimmune hydrops fetalis, Short stature, Abnormal heart morphology, G... |
ORPHA:124 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Cardiomegaly, Right atrial enlargement, Peripheral edema, Abnormality of the hepati... |
ORPHA:1677 |
Odontochondrodysplasia 1 |
|
Polycystic kidney dysplasia, Nephronophthisis |
OMIM:184260 |
Transketolase Deficiency |
|
Hepatomegaly, Increased level of ribose in urine, Renal cyst |
ORPHA:488618 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Neoplasm of the heart, Multicystic kidney dysplasia, Hydroureter, Megacystis |
ORPHA:2241 |
Sarcoidosis, Susceptibility To, 1 |
|
Pericardial effusion, Hepatomegaly, Pleural effusion, Splenomegaly |
OMIM:181000 |
Cerebrocostomandibular Syndrome |
|
Ventricular septal defect, Spina bifida, Myelomeningocele, Meningocele, Hydranencephaly, Intraute... |
ORPHA:1393 |
Anophthalmia Plus Syndrome |
|
Spina bifida |
ORPHA:1104 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Postnatal growth retardation, Short stature, Cardiomegaly |
OMIM:613320 |
Sickle Cell Disease |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Splenic infarction, Cholelithiasis |
OMIM:603903 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Renal agenesis, Cystic renal dysplasia |
OMIM:220500 |
Braddock-Carey Syndrome 1 |
|
Multicystic kidney dysplasia |
OMIM:619980 |
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Multicystic kidney dysplasia, Fetal megacystis |
ORPHA:73246 |
Amish Lethal Microcephaly |
|
Hepatomegaly, Spina bifida |
ORPHA:99742 |
Metachromatic Leukodystrophy, Adult Form |
|
Depression, Progressive gait ataxia, Difficulty walking, Dystonia, Emotional lability, Abnormal s... |
ORPHA:309271 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Renal cyst, Horseshoe kidney |
ORPHA:166035 |
Alveolar Echinococcosis |
|
Liver abscess, Cholangitis, Portal hypertension, Pancreatic cysts, Jaundice, Biliary cirrhosis, R... |
ORPHA:284 |
48,Xxxy Syndrome |
|
Tremor, Irritability, Attention deficit hyperactivity disorder, Abnormal social behavior, Abnorma... |
ORPHA:96263 |
Kleefstra Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Hypospadias, Renal cyst, Vesicoureteral reflux, Micrope... |
ORPHA:261494 |
Esophageal Atresia |
|
Ventricular septal defect, Polyhydramnios, Growth delay, Pallor, Absence of stomach bubble on fet... |
ORPHA:1199 |
Nabais Sa-De Vries Syndrome, Type 2 |
|
Multicystic kidney dysplasia |
OMIM:618829 |
Genitopalatocardiac Syndrome |
|
Multicystic kidney dysplasia, Abnormality of the gallbladder, Hypospadias |
ORPHA:2075 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Splenomegaly, Hepatomegaly, Pallor |
ORPHA:98849 |
Branchio-Oculo-Facial Syndrome |
|
Hemangioma, Renal agenesis, Multicystic kidney dysplasia, Hydronephrosis |
ORPHA:1297 |
Zellweger Syndrome |
|
Hepatomegaly, Multicystic kidney dysplasia, Hypospadias, Jaundice, Hepatic failure, Hydronephrosis |
ORPHA:912 |
Plummer-Vinson Syndrome |
|
Pallor |
ORPHA:54028 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Meningocele, Anomalous pulmonary venous return, Umbilical hernia, Spina bifida occulta, Intrauter... |
ORPHA:2311 |
Monosomy 22 |
|
Schwannoma, Hepatosplenomegaly, Gonadal neoplasm, Micropenis, Meningioma, Sarcoma |
ORPHA:96123 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Hypospadias, Elevated circulating aspartate aminot... |
OMIM:614866 |
Ventriculomegaly With Cystic Kidney Disease |
|
Tubular luminal dilatation, Renal insufficiency, Renal corticomedullary cysts, Hyperechogenic kid... |
OMIM:219730 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Dilated cardiomyopathy, Short stature, Fetal distress, Cardiomegaly |
OMIM:208000 |
Degcags Syndrome |
|
Hepatomegaly, Premature birth, Ventricular septal defect, Polyhydramnios, Echogenic fetal bowel, ... |
OMIM:619488 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Jaundice, Aminoaciduria, Polycystic kidney dysplasia |
OMIM:214110 |
Joubert Syndrome 14 |
|
Encephalocele, Hydrocephalus, Meningocele, Ventricular septal defect |
OMIM:614424 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Mitral valve prolapse, Abnormal atrioventricular valve morphology, Cardiom... |
ORPHA:324410 |
Mosaic Trisomy 1 |
|
Hepatic agenesis, Renal cortical cysts, Renal cyst, Micropenis, Penile hypospadias |
ORPHA:1692 |
Fucosidosis |
|
Hepatomegaly, Abnormality of the gallbladder, Cardiomegaly |
ORPHA:349 |
Multiple Endocrine Neoplasia Type 1 |
|
Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancrea... |
ORPHA:652 |
Harrod Syndrome |
|
Multicystic kidney dysplasia, Hypospadias |
ORPHA:2115 |
Infection-Related Hemolytic Uremic Syndrome |
|
Edema, Myocarditis, Pleural empyema, Pallor, Pancreatitis, Generalized edema |
ORPHA:544482 |
Diamond-Blackfan Anemia 1 |
|
Ventricular septal defect, Premature birth, Tricuspid stenosis, Short stature, Pallor, Atrial sep... |
OMIM:105650 |
Sirenomelia |
|
Spina bifida, Sirenomelia |
ORPHA:3169 |
Hereditary Folate Malabsorption |
|
Pallor |
ORPHA:90045 |
Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
Alternating Hemiplegia Of Childhood |
|
Cardiomyopathy, Pallor, Dehydration |
ORPHA:2131 |
Refsum Disease, Classic |
|
Cardiomyopathy, Cardiomegaly |
OMIM:266500 |
Limb Body Wall Complex |
|
Encephalocele, Ventricular septal defect, Spina bifida, Myelomeningocele, Hydrocephalus, Anenceph... |
ORPHA:2369 |
Gitelman Syndrome |
|
Pericardial effusion, Neoplasm of the pancreas, Delayed puberty |
ORPHA:358 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract |
OMIM:600145 |
Pseudo-Torch Syndrome 3 |
|
Premature birth, Cardiomegaly |
OMIM:618886 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Stillbirth, Hamartoma of tongue, Renal hypoplasia, Renal cyst |
OMIM:616300 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Abnormal pulmonary valve morphology, Splenomegaly, Growth delay, Pallor |
ORPHA:667 |
Neurofibromatosis Type 1 |
|
Astrocytoma, Chronic myelogenous leukemia, Multiple lipomas, Neoplasm, Pheochromocytoma, Meningio... |
ORPHA:636 |
Fucosidosis |
|
Hepatomegaly, Short stature, Cardiomegaly, Splenomegaly, Dry skin, Petechiae |
OMIM:230000 |
Waardenburg Syndrome Type 1 |
|
Meningocele, Spina bifida |
ORPHA:894 |
Hyper-Igd Syndrome |
|
Renal angiomyolipoma, Elevated urine mevalonic acid level, Hepatosplenomegaly |
OMIM:260920 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Pallor |
ORPHA:276621 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hamartoma of tongue, Polycystic kidney dysplasia, Micropenis, Renal dysplasia, Enlarged kidney |
OMIM:613091 |
Radio-Renal Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Renal dysplasia, Renal hypoplasia/aplasia |
ORPHA:3015 |
Hepatoerythropoietic Porphyria |
|
Splenomegaly, Abnormality of the amniotic fluid, Nonimmune hydrops fetalis, Edema |
ORPHA:95159 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Renal cyst |
OMIM:615560 |
Immunodeficiency 96 |
|
Multicystic kidney dysplasia |
OMIM:619774 |
Fanconi Anemia, Complementation Group E |
|
Anemic pallor, Short stature, Abnormal heart morphology |
OMIM:600901 |
Ogden Syndrome |
|
Redundant neck skin, Bicuspid aortic valve, Redundant skin, Lymphedema, Cardiomegaly, Secundum at... |
OMIM:300855 |
Trisomy 20P |
|
Hypospadias, Abnormality of the kidney, Abnormality of the ureter, Abnormal localization of kidne... |
ORPHA:261318 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Hepatomegaly, Ureteral duplication, Cholangitis, Pancreatic cysts, Congenital hepatic fibrosis, S... |
OMIM:266920 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Cardiomegaly, Pulmonary edema |
OMIM:105210 |
Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... |
ORPHA:1329 |
Liver Disease, Severe Congenital |
|
Cardiomegaly, Biliary hyperplasia, Elevated hepatic iron concentration, Atrial septal defect, Pan... |
OMIM:619991 |
Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Short stature, Cardiomegaly, Retroperitoneal fibrosis, S... |
OMIM:602782 |
Fanconi Anemia, Complementation Group C |
|
Intrauterine growth retardation, Ventricular septal defect, Anemic pallor, Short stature |
OMIM:227645 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Adrenocortical carcinoma, Vesicoureteral reflux, Renal cortical cysts, Nephrolithia... |
OMIM:130650 |
Penile Agenesis |
|
Urethral atresia, male, Hydroureter, Fetal pyelectasis, Bilateral renal hypoplasia, Abnormality o... |
ORPHA:49 |
Fountain Syndrome |
|
Spina bifida occulta, Spina bifida |
ORPHA:3219 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Hepatic fibrosis, Cystic renal dysplasia, Enlarged kidney |
OMIM:200995 |
Joubert Syndrome 2 |
|
Renal insufficiency, Renal cyst, Nephronophthisis |
OMIM:608091 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Renal cyst, Horseshoe kidney |
OMIM:250410 |
Marden-Walker Syndrome |
|
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... |
ORPHA:2461 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Polycystic kidney dysplasia, Ves... |
ORPHA:2237 |
Sandhoff Disease |
|
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:268800 |
Fanconi Anemia, Complementation Group A |
|
Anemic pallor, Short stature, Abnormal heart morphology |
OMIM:227650 |
Iniencephaly |
|
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dysraphism, Hol... |
ORPHA:63259 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Increased hepatic glycogen content, Cardiomegaly |
OMIM:619259 |
Glycogen Storage Disease Ii |
|
Splenomegaly, Hepatomegaly, Pleural effusion, Cardiomegaly |
OMIM:232300 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Neurocutaneous Melanocytosis |
|
Meningocele |
ORPHA:2481 |
Joubert Syndrome 1 |
|
Nephropathy, Hepatic fibrosis, Renal cyst |
OMIM:213300 |
Teratoma, Ovarian |
|
Ovarian teratoma |
OMIM:166950 |
D-Bifunctional Protein Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Cholestasis, Renal cyst, Bile duct proliferation, He... |
OMIM:261515 |
Mckusick-Kaufman Syndrome |
|
Urethral stricture, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Glandular hypospadias... |
ORPHA:2473 |
Imerslund-Gräsbeck Syndrome |
|
Pallor |
ORPHA:35858 |
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
|
Meningocele |
ORPHA:2003 |
Non-Functioning Pituitary Adenoma |
|
Pallor |
ORPHA:91349 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypercalciuria, Renal cyst, Nephrocalcinosis, Abnormality of the urinary system, Congenital megau... |
ORPHA:369837 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Cardiomegaly, Elevated circulating alanine aminotransferase concentration, Left ven... |
ORPHA:308552 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Short stature, Rhizomelia, Cardiomegaly, Mitral valve prolapse, Cutis laxa... |
OMIM:245600 |
Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Umbilical hernia, Cardiomegaly, Fetal akinesia sequence |
OMIM:618143 |
Prolactinoma |
|
Pallor, Delayed puberty |
ORPHA:2965 |
2Q37 Microdeletion Syndrome |
|
Nephroblastoma, Multicystic kidney dysplasia |
ORPHA:1001 |
Absence Of The Pulmonary Artery |
|
Cardiomegaly, Pedal edema, Abnormal heart morphology, Growth delay, Abnormal cardiac septum morph... |
ORPHA:980 |
Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Renal hypoplasia, Renal cyst, Vesicoureteral reflux, Hydronephrosis |
OMIM:618460 |
Aregenerative Anemia |
|
Pallor |
ORPHA:101096 |
Adenohypophysitis |
|
Pallor |
ORPHA:95512 |
Cornelia De Lange Syndrome 1 |
|
Hypospadias, Proteinuria, Ectopic kidney, Abnormal renal morphology, Vesicoureteral reflux, Renal... |
OMIM:122470 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Hyperechogenic kidneys, Polycystic kidney dysplasia |
OMIM:617866 |
Schinzel-Giedion Syndrome |
|
Sacrococcygeal teratoma, Hypospadias, Nephroblastoma, Ependymoma, Abnormality of the ureter, Neph... |
ORPHA:798 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Renal hypoplasia, Renal cyst, Microphallus, Vesicoureteral reflux, Hydronephrosis |
OMIM:618454 |
Lateral Meningocele Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Mening... |
OMIM:130720 |
Incontinentia Pigmenti |
|
Erythema, Short stature, Pallor |
OMIM:308300 |
Panhypophysitis |
|
Pallor |
ORPHA:95513 |
Short-Rib Thoracic Dysplasia 12 |
|
Hepatomegaly, Hamartoma of tongue, Renal hypoplasia, Periportal fibrosis, Neonatal death, Cystic ... |
OMIM:269860 |
Thauvin-Robinet-Faivre Syndrome |
|
Renal malrotation, Renal cyst, Nephroblastoma, Bifid ureter, Renal dysplasia |
OMIM:617107 |
Syndromic Diarrhea |
|
Hepatomegaly, Renal hypoplasia, Abnormality of the liver, Hepatic fibrosis, Cirrhosis, Polycystic... |
ORPHA:84064 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Pallor |
OMIM:616959 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Hypospadias, Unilateral renal agenesis, Renal cyst, Micropenis, Pelvic kidney, Hydronephrosis |
ORPHA:464311 |
Pagod Syndrome |
|
Encephalocele, Spina bifida, Situs inversus totalis, Abnormality of the spleen, Meningocele, Hypo... |
ORPHA:991 |
Sheehan Syndrome |
|
Dry skin, Pallor |
ORPHA:91355 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Muscular edema, Right ventricular hypertrophy, Cardiomegaly |
ORPHA:268 |
Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Ataxia, Aggressive behavior, Unsteady gait, Dysmetria, Nonprogressive cerebellar ataxia, Abnormal... |
ORPHA:314647 |
Alagille Syndrome 1 |
|
Elevated hepatic transaminase, Duplicated collecting system, Hepatocellular carcinoma, Multiple s... |
OMIM:118450 |
Pituitary Apoplexy |
|
Pallor |
ORPHA:95613 |
Truncus Arteriosus |
|
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... |
ORPHA:3384 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Renal dysplasia, Renal cyst |
OMIM:617260 |
Pelvis-Shoulder Dysplasia |
|
Hydranencephaly, Hydrocephalus, Spina bifida |
ORPHA:2839 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Pallor |
ORPHA:29072 |
Cantú Syndrome |
|
Umbilical hernia, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Thickened nuchal skin fold, Cardiomegaly |
OMIM:620306 |
Danon Disease |
|
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... |
OMIM:300257 |
Joubert Syndrome 39 |
|
Polycystic kidney dysplasia |
OMIM:619562 |
Lathosterolosis |
|
Hepatomegaly, Intrahepatic cholestasis, Meningocele, Intrauterine growth retardation, Hepatic fai... |
ORPHA:46059 |
Focal Dermal Hypoplasia |
|
Acute hepatic failure, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Horseshoe kidney, ... |
ORPHA:2092 |
Neuromuscular Oculoauditory Syndrome |
|
Reduced renal corticomedullary differentiation, Multiple renal cysts |
OMIM:618733 |
Congenital Erythropoietic Porphyria |
|
Splenomegaly, Abnormality of the amniotic fluid, Nonimmune hydrops fetalis, Edema |
ORPHA:79277 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hypospadias, Unilateral renal agenesis, Renal cyst, Micropenis, Pelvic kidney, Hydronephrosis |
ORPHA:464306 |
Congenital Tracheomalacia |
|
Premature birth, Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous retu... |
ORPHA:95430 |
Lateral Meningocele Syndrome |
|
Umbilical hernia, Meningocele, Ventricular septal defect |
ORPHA:2789 |
Fanconi Anemia, Complementation Group D2 |
|
Annular pancreas, Anemic pallor, Short stature, Abnormal heart morphology |
OMIM:227646 |
Phelan-Mcdermid Syndrome |
|
Vesicoureteral reflux, Abnormality of the kidney, Polycystic kidney dysplasia |
OMIM:606232 |
Fg Syndrome Type 1 |
|
Broad-based gait, Abnormal social behavior, Compulsive behaviors, Attention deficit hyperactivity... |
ORPHA:93932 |
Acromelic Frontonasal Dysplasia |
|
Encephalocele, Meningocele |
ORPHA:1827 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Renal insufficiency, Renal cyst |
OMIM:617478 |
2P15P16.1 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Hydronephrosis |
ORPHA:261349 |
Microgastria-Limb Reduction Defect Syndrome |
|
Hepatomegaly, Multicystic kidney dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Horseshoe k... |
ORPHA:2538 |
Fryns Syndrome |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Hypospadias, Hydronephrosis |
ORPHA:2059 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:261197 |
Genitopatellar Syndrome |
|
Multicystic kidney dysplasia, Hydronephrosis |
ORPHA:85201 |
Simpson-Golabi-Behmel Syndrome |
|
Hepatomegaly, Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Nephroblas... |
ORPHA:373 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... |
ORPHA:3427 |
Tetraamelia-Multiple Malformations Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:3301 |
Smith-Lemli-Opitz Syndrome |
|
Ureteropelvic junction obstruction, Hepatomegaly, Duplicated collecting system, Hypospadias, Rena... |
OMIM:270400 |
Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Palpebral edema, Cardiomegaly, Splenomegaly, Myelopathy, Growth delay, Severe postn... |
OMIM:252500 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
Mckusick-Kaufman Syndrome |
|
Vesicovaginal fistula, Hydroureter, Hydronephrosis, Polycystic kidney dysplasia |
OMIM:236700 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Schwannoma, Ossifying fibroma, Lisch nodules, Neurofibrosarcoma, Hemangioma, Subcutaneous neurofi... |
ORPHA:363700 |
Atelosteogenesis Type I |
|
Multiple renal cysts |
ORPHA:1190 |
15q26 overgrowth syndrome |
|
Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys... |
DECIPHER:81 |
Orofaciodigital Syndrome I |
|
Proteinuria, Hamartoma of tongue, Pancreatic cysts, Ovarian cyst, Hepatic fibrosis, Hypothalamic ... |
OMIM:311200 |
Yunis-Varon Syndrome |
|
Redundant neck skin, Premature birth, Ventricular septal defect, Polyhydramnios, Hydrops fetalis,... |
OMIM:216340 |
Prader-Willi Syndrome Due To Translocation |
|
Head-banging, Abnormal temper tantrums, Skin-picking, Compulsive behaviors, Attention deficit hyp... |
ORPHA:177907 |
Meckel Syndrome 14 |
|
Hepatic fibrosis, Polycystic kidney dysplasia |
OMIM:619879 |
Neu-Laxova Syndrome 2 |
|
Intrauterine growth retardation, Spina bifida |
OMIM:616038 |
Fryns Syndrome |
|
Ureteral duplication, Renal agenesis, Hypospadias, Renal cyst, Stillbirth, Hydronephrosis |
OMIM:229850 |
Trisomy 18 |
|
Ventricular septal defect, Spina bifida, Anencephaly, Holoprosencephaly, Atrial septal defect, In... |
ORPHA:3380 |
Congenital Disorder Of Glycosylation, Type If |
|
Renal cortical cysts |
OMIM:609180 |
Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Splenomega... |
ORPHA:75565 |
Bohring-Opitz Syndrome |
|
Short stature, Cardiomegaly, Abnormal cardiac septum morphology, Cholelithiasis, Annular pancreas... |
ORPHA:97297 |
Orofaciodigital Syndrome Type 1 |
|
Elevated hepatic transaminase, Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, Ha... |
ORPHA:2750 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly, Lymphedema |
ORPHA:79280 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Microvesicular hepatic steatosis, Hepatosple... |
OMIM:618278 |
Mpdu1-Cdg |
|
Renal cortical cysts |
ORPHA:79323 |
Lumbar Syndrome |
|
Myelomeningocele, Spina bifida |
ORPHA:83628 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Congenital hepatic fibrosis, Disproportionate short-limb short stature, Hydrops fetalis |
ORPHA:93271 |
Abetalipoproteinemia |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Hepatic fibrosis, Cirrhosis, Hepatic s... |
ORPHA:14 |
Oculocerebrorenal Syndrome Of Lowe |
|
Benign neoplasm of the central nervous system, Glomerulopathy, Renal insufficiency, Proteinuria, ... |
ORPHA:534 |
Hajdu-Cheney Syndrome |
|
Hypospadias, Polycystic kidney dysplasia, Renal cyst |
OMIM:102500 |
Floating-Harbor Syndrome |
|
Hypospadias, Renal agenesis, Dilatation of the renal pelvis, Stage 5 chronic kidney disease, Rena... |
ORPHA:2044 |
Chromosome 17P13.1 Deletion Syndrome |
|
Umbilical hernia, Hydrocephalus, Spina bifida |
OMIM:613776 |
Multiple Endocrine Neoplasia Type 2 |
|
Neoplasm of the liver, Pallor |
ORPHA:653 |
Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Umbilical hernia, Abnormal aortic valve morphology, Abn... |
ORPHA:581 |
Distal Deletion 12Q |
|
Ectopic kidney, Pituitary adenoma, Biliary atresia, Polycystic kidney dysplasia, Vesicoureteral r... |
ORPHA:96149 |
Vacterl With Hydrocephalus |
|
Aqueductal stenosis, Intrauterine growth retardation, Hydrocephalus, Spina bifida |
ORPHA:3412 |
Joubert Syndrome 5 |
|
Impaired renal concentrating ability, Stage 5 chronic kidney disease, Renal cortical cysts, Nephr... |
OMIM:610188 |
22Q11.2 Deletion Syndrome |
|
Ventricular septal defect, Abnormal pulmonary valve morphology, Spina bifida, Cholelithiasis, Spl... |
ORPHA:567 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Inability to walk, Abnormal social behavior, Irritability, Abnormal aggressive, impulsive or viol... |
ORPHA:1675 |
Cutis Marmorata Telangiectatica Congenita |
|
Displacement of the urethral meatus, Multicystic kidney dysplasia, Capillary hemangioma |
ORPHA:1556 |
Aicardi-Goutières Syndrome |
|
Elevated hepatic transaminase, Short stature, Cardiomegaly, Hepatosplenomegaly, Prolonged neonata... |
ORPHA:51 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Elevated hepatic transaminase, Occipital encephalocele, Meningocele |
ORPHA:397715 |
Joubert Syndrome 21 |
|
Hyperechogenic kidneys, Renal cyst |
OMIM:615636 |
Fibular Hemimelia |
|
Spina bifida, Abnormal heart morphology |
ORPHA:93323 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Bicuspid aortic valve, Truncus arteriosus, Spina bifida, Ventricular septal defect, Perimembranou... |
ORPHA:508498 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Vesicoureteral reflux, Hypospadias, Renal cyst |
OMIM:616975 |
Proteus Syndrome |
|
Testicular neoplasm, Retinal hamartoma, Neoplasm of the thymus, Visceral angiomatosis, Long penis... |
ORPHA:744 |
1P36 Deletion Syndrome |
|
Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Renal cyst, Abnormality of the liver... |
ORPHA:1606 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Nephroblastoma, Bifid ureter, Enlarged kidney |
ORPHA:500095 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Facial capillary hemangioma, Rena... |
ORPHA:818 |
Acrorenal-Mandibular Syndrome |
|
Renal agenesis, Aplasia of the bladder, Abnormality of the ureter, Polycystic kidney dysplasia |
OMIM:200980 |
Meckel Syndrome |
|
Ureteral duplication, Multicystic kidney dysplasia, Pancreatic cysts, Congenital hepatic fibrosis... |
ORPHA:564 |
Basal Cell Nevus Syndrome 1 |
|
Cardiac rhabdomyoma, Hydrocephalus, Cardiac fibroma, Spina bifida |
OMIM:109400 |
Waardenburg Syndrome, Type 1 |
|
Myelomeningocele, Spina bifida |
OMIM:193500 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Cardiomegaly |
ORPHA:2463 |
Fanconi Anemia |
|
Spina bifida, Hydrocephalus, Patent ductus arteriosus, Abnormality of the liver, Abnormal cardiac... |
ORPHA:84 |
Pmm2-Cdg |
|
Elevated hepatic transaminase, Pericarditis, Lymphedema, Pericardial effusion, Abnormal liver par... |
ORPHA:79318 |
Neu-Laxova Syndrome 1 |
|
Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Stillbirth, Short umbilical co... |
OMIM:256520 |
Thrombocytopenia-Absent Radius Syndrome |
|
Ventricular septal defect, Spina bifida, Pancreatic cysts, Patent ductus arteriosus, Hepatospleno... |
OMIM:274000 |
Cerebrocostomandibular Syndrome |
|
Horseshoe kidney, Renal cyst, Ectopic kidney |
OMIM:117650 |
Cloacal Exstrophy |
|
Myelomeningocele, Spina bifida |
ORPHA:93929 |
Meckel Syndrome, Type 1 |
|
Hypoplasia of the bladder, Renal agenesis, Malformation of the hepatic ductal plate, Abnormality ... |
OMIM:249000 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Renal hypoplasia, Renal cyst, Stillbirth, Polycystic kidney dysplasia, Prolonged neonatal jaundic... |
OMIM:210710 |
Curry-Jones Syndrome |
|
Occipital meningocele, Lipomyelomeningocele |
OMIM:601707 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Patent ductus arteriosus, Cyst of the ductus choledochus, Atrioventricular canal defect, Spina bi... |
OMIM:619480 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Left vent... |
OMIM:300967 |
Tetrasomy 9P |
|
Renal dysplasia, Absent gallbladder, Recurrent urinary tract infections, Pilomatrixoma, Jaundice,... |
ORPHA:3310 |
Neu-Laxova Syndrome |
|
Intrauterine growth retardation, Spina bifida |
ORPHA:2671 |
Jacobsen Syndrome |
|
Ventricular septal defect, Spina bifida, Annular pancreas, Hypoplastic left heart, Intrauterine g... |
ORPHA:2308 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Cardiomegaly, Elevated circulating alanine aminotransferase concentration, Left ven... |
ORPHA:365 |
Trisomy 10P |
|
Absent gallbladder, Multiple renal cysts, Abnormality of the kidney |
ORPHA:171929 |
Carney Complex |
|
Hepatocellular carcinoma, Thyroid carcinoma, Papillary thyroid carcinoma, Neoplasm of the breast,... |
ORPHA:1359 |
Nail-Patella Syndrome |
|
Spina bifida |
OMIM:161200 |
Spondylocarpotarsal Synostosis Syndrome |
|
Renal cyst |
OMIM:272460 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... |
ORPHA:353281 |
Autosomal Recessive Robinow Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hydronephrosis |
ORPHA:1507 |
Mend Syndrome |
|
Hyperactivity, Abnormal social behavior, Aggressive behavior |
ORPHA:401973 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Short stature, Cardiomegaly, Splenomegaly, Erythema,... |
OMIM:256040 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hepatomegaly, Hypospadias, Renal cyst, Duplication of renal pelvis, Hepatoblastoma, Nephroblastom... |
OMIM:312870 |
Hajdu-Cheney Syndrome |
|
Hepatomegaly, Multiple renal cysts, Hypospadias |
ORPHA:955 |
Vater/Vacterl Association |
|
Occipital encephalocele, Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Trans... |
OMIM:192350 |
Osteopathia Striata With Cranial Sclerosis |
|
Multicystic kidney dysplasia |
OMIM:300373 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Hydrocephalus, Abnormal heart mor... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Hydrocephalus, Abnormal heart mor... |
ORPHA:363958 |
Orofaciodigital Syndrome Vi |
|
Occipital meningocele, Hypoplastic left heart |
OMIM:277170 |
Roberts Syndrome |
|
Midface capillary hemangioma, Long penis, Polycystic kidney dysplasia |
ORPHA:3103 |
Hallermann-Streiff Syndrome |
|
Spina bifida |
OMIM:234100 |
Distal Deletion 15Q |
|
Abnormal localization of kidney, Micropenis, Multicystic kidney dysplasia, Hypospadias |
ORPHA:1596 |
Robinow Syndrome |
|
Webbed penis, Micropenis, Multicystic kidney dysplasia, Hydronephrosis |
ORPHA:97360 |
Rubinstein-Taybi Syndrome 1 |
|
Accessory spleen, Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Mitral valve... |
OMIM:180849 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Hypospadias, Renal cyst |
ORPHA:495875 |
Williams Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Proteinuria, Recurrent urinary tract infections, Urethr... |
ORPHA:904 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly |
ORPHA:91387 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Pallor |
OMIM:253280 |
C Syndrome |
|
Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Horseshoe kidney, Midline facial capillar... |
ORPHA:1308 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Micropenis, Multicystic kidney dysplasia, Hydronephrosis |
OMIM:615287 |
Campomelic Dysplasia |
|
Hydrocephalus, Abnormal heart morphology, Spina bifida, Spinal dysraphism |
OMIM:114290 |
Holoprosencephaly 7 |
|
Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me... |
OMIM:610828 |
Femoral-Facial Syndrome |
|
Micropenis, Abnormal renal collecting system morphology, Renal agenesis, Polycystic kidney dysplasia |
OMIM:134780 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Meningocele |
ORPHA:1010 |
Split Cord Malformation |
|
Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus |
ORPHA:573278 |
Townes-Brocks Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Hypospadias, Urethral valve, Abnormality of the kidney,... |
ORPHA:857 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... |
ORPHA:353277 |
Knobloch Syndrome 1 |
|
Occipital meningocele, Occipital encephalocele, Patent ductus arteriosus, Spina bifida occulta |
OMIM:267750 |
Fraser Syndrome |
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Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia, Urethral atresia |
ORPHA:2052 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
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Multicystic kidney dysplasia, Renal agenesis, Hypospadias, Unilateral renal agenesis, Neonatal de... |
OMIM:308205 |
Marfan Syndrome |
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Mitral valve calcification, Meningocele, Mitral valve prolapse |
ORPHA:558 |
Peters Plus Syndrome |
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Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Hydron... |
ORPHA:709 |
Townes-Brocks Syndrome 1 |
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Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Urethral valve, Renal hypoplasia,... |
OMIM:107480 |
Branchiooculofacial Syndrome |
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Renal agenesis, Hamartoma, Hypospadias, Renal cyst |
OMIM:113620 |
Singleton-Merten Syndrome 1 |
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Mitral valve calcification, Short stature, Cardiomegaly, Aortic valve calcification, Aortic valve... |
OMIM:182250 |
Cornelia De Lange Syndrome |
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Renal insufficiency, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Vesicoureter... |
ORPHA:199 |
Roberts-Sc Phocomelia Syndrome |
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Hypospadias, Long penis, Cavernous hemangioma of the face, Biliary tract abnormality, Horseshoe k... |
OMIM:268300 |
Goodpasture Syndrome |
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Pallor |
OMIM:233450 |
Exstrophy-Epispadias Complex |
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Hydrocephalus, Spina bifida, Abnormal heart morphology |
ORPHA:322 |
Otopalatodigital Syndrome, Type Ii |
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Spina bifida, Hydrocephalus, Stillbirth, Atrial septal defect, Umbilical hernia |
OMIM:304120 |
Ulbright-Hodes Syndrome |
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Abnormal penis morphology, Renal hypoplasia, Polycystic kidney dysplasia |
ORPHA:3404 |
Genitopatellar Syndrome |
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Micropenis, Multicystic kidney dysplasia, Hydronephrosis |
OMIM:606170 |
Mowat-Wilson Syndrome |
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Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Abnormality of the kidney, Chord... |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Chordee, Vesicoureteral reflux, ... |
ORPHA:261537 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Duplication of renal pelvis, Cho... |
ORPHA:261552 |
Pallister-Killian Syndrome |
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Stillbirth, Hypospadias, Renal dysplasia, Renal cyst |
OMIM:601803 |
Craniofacial Microsomia 1 |
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Multicystic kidney dysplasia, Renal agenesis, Ectopic kidney, Vesicoureteral reflux, Ureteropelvi... |
OMIM:164210 |
Lymphangioleiomyomatosis |
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Pulmonary lymphangiomyomatosis |
OMIM:606690 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
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Occipital meningocele |
OMIM:276820 |
Focal Cortical Dysplasia, Type Ii |
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OMIM:607341 |