Lymphatic Malformation 11 |
|
Lymphedema, Pedal edema |
OMIM:619401 |
Lymphatic Malformation 2 |
|
Lymphedema |
OMIM:611944 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome |
|
Lymphedema |
ORPHA:69061 |
Lymphatic Malformation 9 |
|
Tortuous lymphatic vessels, Predominantly lower limb lymphedema |
OMIM:619319 |
Gjc2-Related Late-Onset Primary Lymphedema |
|
Venous insufficiency, Predominantly lower limb lymphedema, Facial edema, Genital edema, Abnormal ... |
ORPHA:568051 |
Finger Locking, Recurrent, With Intrauterine Growth Retardation And Proportionate Short Stature |
|
Intrauterine growth retardation, Short stature |
OMIM:135950 |
Lymphatic Malformation 3 |
|
Lymphedema |
OMIM:613480 |
Yellow Nail Syndrome |
|
Predominantly lower limb lymphedema, Lymphedema, Hypoplasia of lymphatic vessels |
OMIM:153300 |
Lymphatic Malformation 5 |
|
Facial edema, Predominantly lower limb lymphedema, Hypoplasia of lymphatic vessels |
OMIM:153200 |
Lipedema |
|
Edema |
OMIM:614103 |
Lymphedema And Cerebral Arteriovenous Anomaly |
|
Lymphedema |
OMIM:152900 |
Choanal Atresia And Lymphedema |
|
Lymphedema, Pericardial effusion |
OMIM:613611 |
Lymphatic Malformation 1 |
|
Nonimmune hydrops fetalis, Prominent superficial veins, Hyperkeratosis over edematous areas, Hypo... |
OMIM:153100 |
Lymphatic Malformation 10 |
|
Lymphedema |
OMIM:619369 |
Lymphangioleiomyomatosis |
|
Pulmonary lymphangiomyomatosis |
OMIM:606690 |
Follicular Lymphoma |
|
Lymphadenopathy, Lymphedema, Mediastinal lymphadenopathy, Pleural effusion, Splenomegaly |
ORPHA:545 |
Chylous Ascites |
|
Lymphedema, Ascites |
ORPHA:1160 |
Meige Disease |
|
Edema of the dorsum of hands, Periorbital edema, Facial edema, Laryngeal edema, Pedal edema, Vari... |
ORPHA:90186 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Pulmonary lymphangiectasia, Pericardial lymphangiectasia, Intestinal lymphangiectasia, Lymphedema |
OMIM:616006 |
Lymphatic Malformation 4 |
|
Lymphedema, Pedal edema |
OMIM:615907 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Increased nuchal translucency, Edema, Facial edema, Pulmonary edema, L... |
OMIM:617300 |
Hydrops Fetalis |
|
Nonimmune hydrops fetalis, Pleural effusion, Polyhydramnios, Pericardial effusion, Lymphedema, Ab... |
ORPHA:1041 |
Lymphatic Malformation 12 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Fetal ascites, Neonatal death, Lymphedema |
OMIM:620014 |
Lymphatic Malformation 6 |
|
Nonimmune hydrops fetalis, Generalized edema, Edema, Polyhydramnios, Periorbital edema, Facial ed... |
OMIM:616843 |
Lissencephaly 2 |
|
Lymphedema |
OMIM:257320 |
Lissencephaly 7 With Cerebellar Hypoplasia |
|
Lymphedema, Micrognathia, Neonatal death |
OMIM:616342 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Stillbirth, Pericardial effusion, Pleural effusion, Ge... |
OMIM:618773 |
Dohle Bodies And Leukemia |
|
Lymphedema |
OMIM:223350 |
Lymphangiectasia, Intestinal |
|
Stillbirth, Intestinal lymphangiectasia, Pedal edema, Edema |
OMIM:152800 |
Cholestasis-Lymphedema Syndrome |
|
Lymphedema, Splenomegaly |
OMIM:214900 |
Primary Intestinal Lymphangiectasia |
|
Edema, Abnormal lymphatic vessel morphology, Pericardial effusion, Pleural effusion, Intestinal l... |
ORPHA:90362 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Pleural effusion, Hydrops fetalis, Palpebral edema, Abnormality of the lymphatic system, Predomin... |
ORPHA:69735 |
Yellow Nail Syndrome |
|
Sinusitis, Lymphedema, Hypoplasia of lymphatic vessels |
ORPHA:662 |
Milroy Disease |
|
Varicose veins, Lymphedema, Abnormal venous morphology, Predominantly lower limb lymphedema, Peda... |
ORPHA:79452 |
Kaposi Sarcoma |
|
Generalized lymphadenopathy, Venous insufficiency, Lymphedema, Abnormality of the spleen |
ORPHA:33276 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Nonimmune hydrops fetalis, Retrognathia, Conical incisor, Malar flattening, Pleural lymphangiecta... |
OMIM:235510 |
Melorheostosis |
|
Peripheral arteriovenous fistula, Lymphedema |
ORPHA:2485 |
Greenberg Dysplasia |
|
Lymphedema, Micrognathia |
ORPHA:1426 |
Campomelia, Cumming Type |
|
Lymphedema, Polysplenia |
OMIM:211890 |
Chromomycosis |
|
Predominantly lower limb lymphedema, Edema, Lymphedema, Lymphangiectasis |
ORPHA:182 |
Cholestasis-Lymphedema Syndrome |
|
Abnormality of the lymphatic system, Lymphedema, Splenomegaly |
ORPHA:1414 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Pulmonary lymphangiectasia, Malar flattening, Polyhydramnios, Thyroid lymphangiectasia, Lymphedem... |
OMIM:235255 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Intestinal lymphangiectasia, Generalized edema, Abnormal paranasal sinus morphology |
OMIM:207731 |
Cinca Syndrome |
|
Hepatosplenomegaly, Lymphadenopathy, Lymphedema |
OMIM:607115 |
Lymphedema-Hypoparathyroidism Syndrome |
|
Pulmonary lymphangiectasia, Lymphedema |
OMIM:247410 |
Lymphangiectasia, Pulmonary, Congenital |
|
Nonimmune hydrops fetalis, Chylous ascites, Edema, Malar flattening, Polyhydramnios, Facial edema... |
OMIM:265300 |
Lymphedema, Primary, With Myelodysplasia |
|
Lymphedema |
OMIM:614038 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Hydrops fetalis, Overriding aorta, Lymphedema, Oligohydramnios, Patent ductus arteriosus, Vascula... |
OMIM:601927 |
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth |
|
Lymphedema, Venous malformation, Varicose veins |
OMIM:613089 |
Kaposiform Lymphangiomatosis |
|
Hepatosplenomegaly, Epidural hemorrhage, Pleural effusion, Abnormal spleen morphology, Abnormal l... |
ORPHA:464329 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Polyhydramnios, Lymphedema |
OMIM:618154 |
Klippel-Trenaunay-Weber Syndrome |
|
Lymphedema, Arteriovenous fistula, Lymphangioma |
OMIM:149000 |
German Syndrome |
|
Lymphedema, Micrognathia, Tetralogy of Fallot |
ORPHA:2077 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Intracranial hemorrhage, Lymphadenopathy, Splenomegaly, Lymphedema |
ORPHA:3226 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Nonimmune hydrops fetalis, Mandibular prognathia, Palpebral edema, Lymphedema, Pulmonary lymphang... |
OMIM:137940 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Edema, Lymphangiectasis |
OMIM:602579 |
Parkes Weber Syndrome |
|
Subarachnoid hemorrhage, Peripheral arteriovenous fistula, Arteriovenous malformation, Arterioven... |
ORPHA:90307 |
Mucopolysaccharidosis Type 7 |
|
Hydrops fetalis, Arteriovenous malformation, Umbilical hernia, Lymphedema, Splenomegaly, Ascites |
ORPHA:584 |
Capillary Malformation-Arteriovenous Malformation |
|
Peripheral arteriovenous fistula, Nonimmune hydrops fetalis, Arteriovenous malformation, Arteriov... |
ORPHA:137667 |
Al-Gazali-Bakalinova Syndrome |
|
Malar flattening, Lymphedema |
OMIM:607131 |
Clapo Syndrome |
|
Varicose veins, Lymphedema, Venous malformation, Lymphangioma |
ORPHA:168984 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphedema |
ORPHA:1116 |
Lymphedema-Distichiasis Syndrome |
|
Nonimmune hydrops fetalis, Tetralogy of Fallot, Predominantly lower limb lymphedema, Varicose vei... |
OMIM:153400 |
Cantu Syndrome |
|
Umbilical hernia, Lymphedema, Pericardial effusion, Patent ductus arteriosus |
OMIM:239850 |
Monosomy 18P |
|
Lymphedema, Carious teeth, Micrognathia |
ORPHA:1598 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Lymphedema |
ORPHA:3137 |
Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Pulmonary edema, Edema |
OMIM:178400 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Lymphedema |
ORPHA:79279 |
Hennekam Syndrome |
|
Retrognathia, Arteriovenous malformation, Hydrops fetalis, Supernumerary tooth, Lymphadenopathy, ... |
ORPHA:2136 |
Cronkhite-Canada Syndrome |
|
Lymphedema, Splenomegaly |
ORPHA:2930 |
Tenosynovial Giant Cell Tumor |
|
Lymphedema, Joint swelling |
ORPHA:66627 |
Lymphatic Filariasis |
|
Lymphadenitis, Lymphangiectasis, Lymphadenopathy, Lymphedema, Abnormality of the lymphatic system... |
ORPHA:2035 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Mandibular prognathia, Lymphedema |
OMIM:152950 |
Ring Chromosome 22 Syndrome |
|
Pleural effusion, Lymphedema, Edema |
ORPHA:1446 |
Maternal Uniparental Disomy Of Chromosome X |
|
Predominantly lower limb lymphedema |
ORPHA:261519 |
Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Palpebral edema, Nonimmune hydrops fetalis, Predominantly lower limb lymphedema |
OMIM:607823 |
Non Rare In Europe: Buschke-Ollendorff Syndrome |
|
Abnormal aortic morphology, Lymphedema |
ORPHA:1306 |
Noonan Syndrome 13 |
|
Lymphedema, Micrognathia |
OMIM:619087 |
Distal Xq28 Microduplication Syndrome |
|
Upper eyelid edema, Predominantly lower limb lymphedema, Patent ductus arteriosus, Hypoplasia of ... |
ORPHA:293939 |
Campomelia, Cumming Type |
|
Lymphedema, Oligohydramnios, Hydrops fetalis |
ORPHA:1318 |
Phelan-Mcdermid Syndrome |
|
Malar flattening, Palpebral edema, Dental malocclusion, Lymphedema, Patent ductus arteriosus, Mic... |
OMIM:606232 |
Familial Exudative Vitreoretinopathy |
|
Lymphedema, Macular edema |
ORPHA:891 |
Dahlberg-Borer-Newcomer Syndrome |
|
Lymphedema |
ORPHA:1563 |
Lymphangioleiomyomatosis |
|
Chylopericardium, Pulmonary lymphangiomyomatosis, Lymphadenopathy, Lymphedema, Abnormality of the... |
ORPHA:538 |
Infantile Systemic Hyalinosis |
|
Aplasia/Hypoplasia of the thymus, Lymphedema |
ORPHA:2176 |
Lymphatic Malformation 13 |
|
Nonimmune hydrops fetalis, Neonatal death, Lymphedema, Patent ductus arteriosus, Ascites |
OMIM:620244 |
Takenouchi-Kosaki Syndrome |
|
Dental malocclusion, Lymphedema, Patent ductus arteriosus |
OMIM:616737 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Arteriovenous malformation, Aortic aneurysm, Intracranial hemorrhage, Lymphedema, Micrognathia |
ORPHA:109 |
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Hepatosplenomegaly, Retrognathia, Polyhydramnios, Splenomegaly, Lymphedema, Chylothorax |
OMIM:613563 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Lymphedema, Conical incisor |
OMIM:300291 |
Cerebrofacioarticular Syndrome |
|
Lymphedema, Micrognathia, Hypoplasia of the maxilla |
ORPHA:314679 |
Fabry Disease |
|
Transient ischemic attack, Lymphedema |
OMIM:301500 |
Noonan Syndrome |
|
Lymphedema, Abnormality of the spleen, Micrognathia, Abnormality of the lymphatic system, Pulmona... |
ORPHA:648 |
Secondary Intestinal Lymphangiectasia |
|
Chylous ascites, Anasarca, Edema, Intestinal lymphedema, Lymphedema, Pleural effusion |
ORPHA:90363 |
Oculoectodermal Syndrome |
|
Coarctation of aorta, Giant cell granuloma of mandible, Transient ischemic attack, Lymphedema, Pa... |
OMIM:600268 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Total anomalous pulmonary venous return, Dental malocclusion, Lymphedema, Patent ductus arteriosu... |
ORPHA:487796 |
Lymphedema-Distichiasis Syndrome |
|
Predominantly lower limb lymphedema, Patent ductus arteriosus, Varicose veins |
ORPHA:33001 |
Kasabach-Merritt Syndrome |
|
Abnormal lymphatic vessel morphology |
ORPHA:2330 |
Cardiofaciocutaneous Syndrome |
|
Hypoplasia of the zygomatic bone, Lymphedema |
ORPHA:1340 |
Phakomatosis Pigmentokeratotica |
|
Lymphedema, Spina bifida |
ORPHA:2874 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Abnormality of the temporomandibular joint, Prominent scalp veins, Ascending tubular aorta aneury... |
ORPHA:536471 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatosplenomegaly, Polyhydramnios, Pancreatic lymphangiectasis, Micrognathia, Pulmonary lymphang... |
ORPHA:1655 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Lymphedema |
ORPHA:2822 |
Ogden Syndrome |
|
Umbilical hernia, Peripheral pulmonary artery stenosis, Micrognathia, Pulmonary edema, Microretro... |
OMIM:300855 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Intestinal lymphangiectasia, Generalized edema, Edema, Ascites |
OMIM:226300 |
Costello Syndrome |
|
Polyhydramnios, Lymphangiectasis, Micrognathia |
OMIM:218040 |
Schneckenbecken Dysplasia |
|
Malar flattening, Polyhydramnios, Lymphedema |
ORPHA:3144 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Pleural effusion, Lymphedema, Chylothorax, Edema |
ORPHA:2526 |
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
|
Predominantly lower limb lymphedema |
OMIM:604121 |
Deafness, Unilateral, With Delayed Endolymphatic Hydrops |
|
Edema |
OMIM:612097 |
Angioosteohypertrophic Syndrome |
|
Peripheral arteriovenous fistula, Venous insufficiency, Lymphedema |
ORPHA:2346 |
Proteus Syndrome |
|
Sirenomelia, Arteriovenous malformation, Neoplasm of the thymus, Abnormal dental enamel morpholog... |
ORPHA:744 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Lymphedema |
ORPHA:79280 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Pulmonary artery dilatation, Nonimmune hydrops fetalis, Coarctation of aorta, Retrognathia, Asple... |
OMIM:265380 |
Noonan Syndrome 1 |
|
Coarctation of aorta, Dental malocclusion, Lymphedema, Patent ductus arteriosus, Micrognathia, Ch... |
OMIM:163950 |
Monosomy 22Q13.3 |
|
Malar flattening, Umbilical hernia, Palpebral edema, Dental malocclusion, Lymphedema |
ORPHA:48652 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Coarctation of aorta, Retrognathia, Aortic arch aneurysm, Aplasia/Hypoplasia of the mandible, Art... |
ORPHA:99413 |
Turner Syndrome |
|
Coarctation of aorta, Retrognathia, Aortic arch aneurysm, Aplasia/Hypoplasia of the mandible, Art... |
ORPHA:881 |
Mosaic Monosomy X |
|
Coarctation of aorta, Retrognathia, Aortic arch aneurysm, Aplasia/Hypoplasia of the mandible, Art... |
ORPHA:99228 |
Monosomy X |
|
Coarctation of aorta, Retrognathia, Aortic arch aneurysm, Aplasia/Hypoplasia of the mandible, Art... |
ORPHA:99226 |
Spondyloocular Syndrome |
|
Lymphedema |
OMIM:605822 |
Fabry Disease |
|
Transient ischemic attack, Lymphedema |
ORPHA:324 |
Kanzaki Disease |
|
Lacunar stroke, Lymphedema |
OMIM:609242 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Predominantly lower limb lymphedema |
ORPHA:314404 |
Pmm2-Cdg |
|
Retrognathia, Anasarca, Intracranial hemorrhage, Mandibular prognathia, Pericardial effusion, Lym... |
ORPHA:79318 |
Tuberous Sclerosis 1 |
|
Pulmonary lymphangiomyomatosis, Dental enamel pits |
OMIM:191100 |
Holoprosencephaly 2 |
|
Malar flattening, Aplasia of the premaxilla |
OMIM:157170 |
Branchiooculofacial Syndrome |
|
Cleft of chin, Malar flattening, Ectopic thymus tissue, Micrognathia, Branchial anomaly |
OMIM:113620 |
Tuberous Sclerosis 2 |
|
Pulmonary lymphangiomyomatosis |
OMIM:613254 |
Saethre-Chotzen Syndrome |
|
Malar flattening, Cleft of chin, Hypoplasia of the maxilla |
OMIM:101400 |
Tuberous Sclerosis Complex |
|
Aortic aneurysm, Pulmonary lymphangiomyomatosis |
ORPHA:805 |
Kid Syndrome |
|
Postnatal growth retardation |
ORPHA:477 |
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome |
|
|
ORPHA:2698 |
Ichthyosis, Hystrix-Like, With Deafness |
|
|
OMIM:602540 |
Palmoplantar Keratoderma-Deafness Syndrome |
|
|
ORPHA:2202 |
Vohwinkel Syndrome |
|
|
OMIM:124500 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
|
OMIM:148210 |
Deafness, Autosomal Dominant 3A |
|
|
OMIM:601544 |
Bart-Pumphrey Syndrome |
|
|
OMIM:149200 |
Keratoderma, Palmoplantar, With Deafness |
|
|
OMIM:148350 |
Keratoderma Hereditarium Mutilans |
|
|
ORPHA:494 |
Deafness, Autosomal Recessive 1A |
|
|
OMIM:220290 |