Cholangiocarcinoma, Susceptibility To |
|
Cholangiocarcinoma |
OMIM:615619 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Decreased circulating IgG level, Absence of lymph node germinal center |
OMIM:235550 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormal lymph node morphology |
OMIM:136580 |
Gallbladder Disease 4 |
|
Cholelithiasis |
OMIM:611465 |
Kerion Celsi |
|
Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent skin infec... |
ORPHA:499 |
Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Increased bone mineral density, Short stature, Polyhydramnios, Abnormal limb bone morphology, Hyd... |
ORPHA:2204 |
Gallbladder Disease 1 |
|
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic f... |
OMIM:600803 |
Osteochondrosis Of The Metatarsal Bone |
|
Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn... |
ORPHA:564003 |
Isolated Osteopoikilosis |
|
Syndactyly, Abnormally ossified vertebrae, Increased bone mineral density, Abnormal pelvis bone m... |
ORPHA:166119 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy |
OMIM:616126 |
Sclerosteosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Finger syndactyly, 2-3 finger syndacty... |
ORPHA:3152 |
Osteosclerotic Metaphyseal Dysplasia |
|
Dense metaphyseal bands, Metaphyseal dysplasia, Increased bone mineral density, Clavicular sclero... |
OMIM:615198 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros... |
ORPHA:85188 |
Hereditary Progressive Mucinous Histiocytosis |
|
Lymphadenopathy |
ORPHA:158025 |
Melorheostosis With Osteopoikilosis |
|
Hypertension, Osteopoikilosis, Abnormal cortical bone morphology, Complete duplication of the dis... |
ORPHA:1879 |
Squamous Cell Carcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99977 |
Dubin-Johnson Syndrome |
|
Jaundice, Biliary tract abnormality |
OMIM:237500 |
Mueller-Weiss Syndrome |
|
Limitation of movement at ankles, Edema of the dorsum of feet, Sclerosis of foot bone, Joint stif... |
ORPHA:566943 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Mediastinal lymphadenopathy, Follicular hyperplasia |
ORPHA:60026 |
Immunodeficiency 75 With Lymphoproliferation |
|
Hepatosplenomegaly, Bronchiectasis, Lymphadenopathy, Follicular hyperplasia |
OMIM:619126 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Myelopathy, Ectopic ossification, Increased bone mineral density |
OMIM:602475 |
Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
Immunodeficiency 104 |
|
Pneumonia, Eczema, Splenomegaly, Chronic mucocutaneous candidiasis, Lymphadenopathy, Otitis media... |
OMIM:608971 |
Reticuloendotheliosis, X-Linked |
|
Hepatosplenomegaly, Lymphadenopathy |
OMIM:312500 |
Buschke-Ollendorff Syndrome |
|
Osteopoikilosis, Flexion contracture, Joint stiffness |
OMIM:166700 |
Dent Disease 1 |
|
Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Nephrocalcinosis, Tibial bow... |
OMIM:300009 |
Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal t... |
ORPHA:3416 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Nephrocalcinosis, Tibial bow... |
OMIM:300554 |
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density, Pedal edema |
ORPHA:75325 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Epididymitis, Lymphadenopathy, Increased circulating IgM level, Decreased circulating IgG level, ... |
OMIM:608106 |
12q14 microdeletion syndrome |
|
Osteopoikilosis, Proportionate short stature |
DECIPHER:76 |
Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Generalized osteosclerosis, Clavicular sclerosis, Abnormal cortical bo... |
ORPHA:2790 |
Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
Pyknoachondrogenesis |
|
Increased bone mineral density, Stillbirth |
OMIM:265880 |
Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Bowing of the long bones, Abnormal tibia morphology, Abnormal femur mo... |
ORPHA:1802 |
Eiken Syndrome |
|
Short palm, Abnormal trabecular bone morphology, Epiphyseal dysplasia, Abnormal acetabulum morpho... |
ORPHA:79106 |
Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
Mantle Cell Lymphoma |
|
Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
Autosomal Recessive Primary Microcephaly |
|
Short stature, Unilateral renal agenesis, Growth delay, Gray matter heterotopia, Vesicoureteral r... |
ORPHA:2512 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Polyuria, Osteoporosis, Rickets, Dehydration, Proximal tubulopathy, Failure to thrive |
OMIM:560000 |
Hypercalcemia, Infantile, 2 |
|
Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Hypophosphate... |
OMIM:616963 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
Hypercalcemia, Infantile, 1 |
|
Polyuria, Hypercalcemia, Nephrolithiasis, Dehydration, Weight loss, Nephrocalcinosis, Hypercalciu... |
OMIM:143880 |
Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Calcium nephrolithiasis, Bulging epiphyses, Recurrent fractures, Bowing of the legs, Abnormal cir... |
OMIM:241530 |
Dent Disease |
|
Enlarged epiphyses, Elevated circulating creatine kinase concentration, Bowing of the legs, Delay... |
ORPHA:1652 |
Bartter Syndrome, Type 1, Antenatal |
|
Osteopenia, Increased serum prostaglandin E2, Polyhydramnios, Renal salt wasting, Dehydration, Ne... |
OMIM:601678 |
Melorheostosis |
|
Increased bone mineral density, Joint stiffness, Lymphedema, Hyperostosis, Arthritis, Ectopic oss... |
ORPHA:2485 |
Bardet-Biedl Syndrome 17 |
|
Mesoaxial polydactyly, Short fourth metatarsal, Dextrocardia, Polyuria, Mesoaxial hand polydactyl... |
OMIM:615994 |
Kimura Disease |
|
Increased circulating IgE level, Lymphadenopathy, Follicular hyperplasia |
ORPHA:482 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Hepatosplenomegaly,... |
OMIM:618982 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Increased urine deoxypyridinoline level, Increased bone mineral density, Short humeru... |
OMIM:239000 |
Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Arthritis, Conjunctivitis, Lymphadenopathy |
OMIM:617772 |
Osteogenesis Imperfecta, Type Xiii |
|
Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Short sta... |
OMIM:614856 |
Flynn-Aird Syndrome |
|
Increased bone mineral density, Osteoporosis, Increased bone density with cystic changes, Joint s... |
OMIM:136300 |
Osteopetrosis, Autosomal Recessive 9 |
|
Increased bone mineral density, Stage 3 chronic kidney disease, Cortical sclerosis, Postnatal gro... |
OMIM:620366 |
Gaucher Disease Type 1 |
|
Osteopenia, Increased bone mineral density, Proteinuria, Pericardial effusion, Abnormal myocardiu... |
ORPHA:77259 |
Acalvaria |
|
Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Elevated left ventricular end-diastolic diameter, Polyuria, Dilated cardiomyopathy,... |
OMIM:620152 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Increased bone mineral density, Craniosynostosis |
ORPHA:178377 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Bronchiectasis, Lymphadenopathy, Increased circulating IgM level, Decreased circula... |
OMIM:615513 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Increased blood ... |
OMIM:613845 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Abnormality of renal excreti... |
ORPHA:289176 |
Low Phospholipid-Associated Cholelithiasis |
|
Elevated hepatic transaminase, Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirr... |
ORPHA:69663 |
Diastrophic Dysplasia |
|
Increased bone mineral density, Bowing of the long bones, Camptodactyly of finger, Micromelia, Jo... |
ORPHA:628 |
Van Buchem Disease |
|
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones |
OMIM:239100 |
Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Bowing of the long bones, Sandal gap, Proximal placement of thumb... |
ORPHA:90650 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Fluctuating splenomegaly, Bronchiectasis, Lymphadenopathy, Increased circulating IgG level, Incre... |
OMIM:619220 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Lymphadenopathy, Increased circulating IgM level, Decreased circulating IgG level, Complete or ne... |
OMIM:605258 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum... |
OMIM:600785 |
Nephronophthisis-Like Nephropathy 2 |
|
Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr... |
OMIM:619468 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Osteopenia, Proteinuria, Short stature, Avascular necrosis of the capital femoral epiphysis, Rena... |
OMIM:611555 |
Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density, Obesity, Tall stature |
OMIM:618406 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Hypertriglyceridemia, Foamy urine, Proteinuria, Edema, Pulmonary emb... |
ORPHA:567548 |
Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
Bartter Syndrome, Type 2, Antenatal |
|
Osteopenia, Increased serum prostaglandin E2, Polyhydramnios, Renal salt wasting, Dehydration, Ne... |
OMIM:241200 |
Majeed Syndrome |
|
Glomerulopathy, Increased bone mineral density, Osteomyelitis, Proteinuria, Cachexia, Edema, Micr... |
ORPHA:77297 |
Chondrodysplasia, Blomstrand Type |
|
Polyhydramnios, Fetal ascites, Micromelia, Generalized osteosclerosis, Squared iliac bones, Flare... |
OMIM:215045 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial hyperostosis, Short stature, Cortical sclerosis, Craniofacial osteosclerosis, Diaphy... |
OMIM:122860 |
Cystinosis, Nephropathic |
|
Metaphyseal widening, Dehydration, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight pr... |
OMIM:219800 |
Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration,... |
OMIM:109130 |
Lethal Recessive Chondrodysplasia |
|
Micromelia, Polyhydramnios, Edema, Generalized osteosclerosis, Short long bone, Flared elbow meta... |
ORPHA:1423 |
Immunodeficiency, Common Variable, 2 |
|
Follicular hyperplasia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Lymphadenopathy, Conju... |
OMIM:240500 |
Familial Expansile Osteolysis |
|
Bowing of the long bones, Osteolysis, Hydroxyprolinuria, Pathologic fracture, Thin bony cortex |
OMIM:174810 |
Osteogenesis Imperfecta, Type Xxii |
|
Bowing of the long bones, Short stature, Recurrent fractures, Multiple prenatal fractures, Abnorm... |
OMIM:619795 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Absence of lymph node germinal center, Increased circulating IgM level, Decreased circulating IgE... |
OMIM:606843 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Increased bone mineral density, Coxa valga, Flat acetabular roof, Oligosacchariduria, Hemiatrophy... |
ORPHA:163649 |
Osteosclerosis With Ichthyosis And Fractures |
|
Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic... |
OMIM:166740 |
Biliary Cirrhosis, Primary, 1 |
|
Biliary cirrhosis |
OMIM:109720 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
Primary Membranoproliferative Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Myocardial infarction, Chronic kidney disease, Stage 5 chronic ... |
ORPHA:54370 |
Lymphoproliferative Syndrome 3 |
|
Hepatosplenomegaly, Partial absence of specific antibody response to tetanus vaccine, Lymphadenop... |
OMIM:618261 |
Desmosterolosis |
|
Increased bone mineral density, Severe short stature, Renal agenesis, Abnormal cortical gyration,... |
ORPHA:35107 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Osteopenia, Proteinuria, Abnormality of the kidney, Short stature, Hyperlipidemia, Osteoporosis, ... |
ORPHA:369 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Abnormality of the h... |
ORPHA:3344 |
Hyperbiliverdinemia |
|
Cholelithiasis, Decreased liver function, Cholestasis |
OMIM:614156 |
Ck Syndrome |
|
Abnormal digit morphology, Abnormal cortical bone morphology, Pachygyria, Slender build, Polymicr... |
OMIM:300831 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Skin rash, Elevated circulating C-reactive protein concentration, Erythema nodosum, Splenomegaly,... |
OMIM:611762 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossification, Rick... |
OMIM:600081 |
Adenocarcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99976 |
Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Anencephaly, Spina bifida |
ORPHA:2476 |
Albers-Schönberg Osteopetrosis |
|
Osteomyelitis, Short stature, Recurrent fractures, Mandibular osteomyelitis, Generalized osteoscl... |
ORPHA:53 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiosteal bone resorption, Delaye... |
OMIM:264700 |
Immunodeficiency 27B |
|
Generalized lymphadenopathy, Salmonella osteomyelitis, Osteomyelitis |
OMIM:615978 |
Gitelman Syndrome |
|
Prolonged QT interval, Polyuria, Renal magnesium wasting, Ventricular tachycardia, Growth delay, ... |
OMIM:263800 |
Intermediate Osteopetrosis |
|
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Increased sus... |
ORPHA:210110 |
Biliary Atresia, Extrahepatic |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... |
OMIM:210500 |
Caspase 8 Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:607271 |
Congenital Heart Defects, Multiple Types, 2 |
|
Aortic regurgitation, Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Cong... |
OMIM:614980 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Polyuria, Polyhydramnios, Pericardial effusion, Hematochezia,... |
OMIM:618183 |
Spondyloepiphyseal Dysplasia Tarda |
|
Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux, Limited e... |
ORPHA:93284 |
North American Indian Childhood Cirrhosis |
|
Biliary cirrhosis, Portal hypertension, Prolonged neonatal jaundice |
OMIM:604901 |
Autoimmune Hypoparathyroidism |
|
Prolonged QT interval, Calcium nephrolithiasis, Increased bone mineral density, Abnormal left ven... |
ORPHA:36913 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... |
OMIM:241520 |
Angioosteohypotrophic Syndrome |
|
Hypoplasia of the ulna, Abnormal trabecular bone morphology, Short humerus, Telangiectasia of the... |
ORPHA:75508 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Recurrent otitis media, Splenomegaly, Hepatitis, Lymphadenopathy |
ORPHA:444463 |
Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Severe short stature, Proteinuria, Hypertension, Clinodactyly of the 5th finger, Nephropathy |
ORPHA:2820 |
Melnick-Needles Syndrome |
|
Craniofacial hyperostosis, Short distal phalanx of finger, Bowing of the long bones, Short statur... |
ORPHA:2484 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Osteopenia, Renal insufficiency, Ulnar deviation of the hand, Proteinuria, Stage 5 chronic kidney... |
OMIM:166300 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Spina bifida |
OMIM:211960 |
X-Linked Hypophosphatemia |
|
Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles, Reduced bone... |
ORPHA:89936 |
Papa Syndrome |
|
Increased inflammatory response, Myositis, Acne, Pustule, Lymphadenopathy, Arthritis, Increased c... |
ORPHA:69126 |
Bartter Syndrome, Type 3 |
|
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... |
OMIM:607364 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Short stature, Patent ductus arteriosus, Renal tubular dysfunction, Growth delay, Hyperbilirubine... |
OMIM:614886 |
Metatropic Dysplasia |
|
Severe short stature, Camptodactyly of finger, Micromelia, Joint stiffness, Abnormal enchondral o... |
ORPHA:2635 |
Immunodeficiency 32A |
|
Lymphadenitis, Lymphadenopathy |
OMIM:614893 |
Hypomagnesemia 3, Renal |
|
Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki... |
OMIM:248250 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Tapered finger, Osteolysis, Foot acroosteolysis, Reduced bone mineral density, Abnormal epiphysis... |
ORPHA:970 |
Immunodeficiency 27A |
|
Increased inflammatory response, Pneumonia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, In... |
OMIM:209950 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Polyhydramnios, Edema, Renal salt ... |
OMIM:613090 |
Immunodeficiency, Common Variable, 1 |
|
Pneumonia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Lymphadenopathy, Decreased circulat... |
OMIM:607594 |
Immunodeficiency 109 With Lymphoproliferation |
|
Generalized lymphadenopathy, Splenomegaly, Bronchiectasis, Recurrent sinusitis, Decreased circula... |
OMIM:620282 |
Pyle Disease |
|
Metaphyseal dysplasia, Metaphyseal widening, Reduced bone mineral density, Genu valgum, Limited e... |
OMIM:265900 |
Caudal Duplication |
|
Myelomeningocele, Spinal cord lesion, Spina bifida |
ORPHA:1756 |
Primary Hyperoxaluria |
|
Hyperoxaluria, Recurrent fractures, Aciduria, Calcium oxalate nephrolithiasis, Heart block, Gener... |
ORPHA:416 |
Pseudohypoparathyroidism Type 1C |
|
Prolonged QT interval, Calcinosis, Increased bone mineral density, Short metacarpal, Short fifth ... |
ORPHA:79444 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Short stature, Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly... |
ORPHA:166277 |
Senior-Loken Syndrome 4 |
|
Stage 5 chronic kidney disease, Polyuria, Nephronophthisis |
OMIM:606996 |
Chiari Malformation Type Ii |
|
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Syringomyelia |
OMIM:207950 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Short stature, Polyuria, Renal salt wasting, Hypertension, Hypokalemia, Enuresis, Increased circu... |
OMIM:612780 |
Schisis Association |
|
Encephalocele, Anencephaly, Spina bifida |
ORPHA:63862 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Pigment gallstones, Splenomegaly, Jaundice, Cholecystitis, Cholelithiasis |
OMIM:613470 |
Nevus Comedonicus Syndrome |
|
Spina bifida occulta, Spina bifida |
ORPHA:64754 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Short stature, Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone resorption, ... |
ORPHA:289157 |
Osteopetrosis, Autosomal Dominant 1 |
|
Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Osteopetrosis, Calvarial oste... |
OMIM:607634 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Polyuria, Renal magnesium wasting, Nephrocalcinosis, Hypokalemia, Hypomagnesemia, Renal potassium... |
OMIM:618314 |
Pseudohypoparathyroidism Type 1B |
|
Prolonged QT interval, Calcinosis, Increased bone mineral density, Short stature, Cortical subper... |
ORPHA:94089 |
Gaucher Disease Type 3 |
|
Increased bone mineral density, Mitral valve calcification, Abnormal heart valve morphology, Prot... |
ORPHA:77261 |
Dysosteosclerosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Ventricular septal defect, Recurrent f... |
ORPHA:1782 |
Pseudopseudohypoparathyroidism |
|
Short stature, Short distal phalanx of the 3rd finger, Short metatarsal, Obesity, Hyperphosphatem... |
ORPHA:79445 |
Bardet-Biedl Syndrome 18 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Obesity, Brachydactyly |
OMIM:615995 |
Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Growth delay,... |
OMIM:256100 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Polyuria, Polyhydramnios, Hypercalciuria, Hypochloremia, Hypokalemia, Increased cir... |
OMIM:300971 |
Preeclampsia/Eclampsia 1 |
|
Hypertension, Proteinuria, Edema, Intrauterine growth retardation |
OMIM:189800 |
Osteopetrosis, Autosomal Recessive 1 |
|
Increased bone mineral density, Osteomyelitis, Femur fracture, Craniosynostosis, Flared metaphysi... |
OMIM:259700 |
Immunodeficiency 52 |
|
Splenomegaly, Recurrent pneumonia, Bronchiectasis, Lymphadenopathy, Decreased circulating antibod... |
OMIM:617514 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hyperphosphaturia, Hypercalcemia, Recurrent fractures, Polyuria, Hypercalciuria, Amin... |
OMIM:239200 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
Otopalatodigital Syndrome Type 2 |
|
Preaxial polydactyly, Short palm, Abnormal vertebral segmentation and fusion, Synostosis of carpa... |
ORPHA:90652 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Increased circulating ferritin concentration, Lymphadenopathy, Hepatosplenomegaly, ... |
OMIM:613101 |
Type 1 Diabetes Mellitus |
|
Polyuria, Decreased level of 1,5 anhydroglucitol in serum |
OMIM:222100 |
Activated Pi3K-Delta Syndrome |
|
Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Lymphadenopathy, Decreased circul... |
ORPHA:397596 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... |
OMIM:137950 |
Bardet-Biedl Syndrome 14 |
|
Renal insufficiency, Polydactyly, Obesity |
OMIM:615991 |
Fibronectin Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Cerebral hemorrhage, Pedal edema, Hypertension,... |
ORPHA:84090 |
Erdheim-Chester Disease |
|
Increased bone mineral density, Osteomyelitis, Renal insufficiency, Abnormal pericardium morpholo... |
ORPHA:35687 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Splenomegaly, Jaundice, Cholelithiasis, Cholecystitis |
OMIM:235700 |
Bardet-Biedl Syndrome 19 |
|
Renal insufficiency, Ventricular septal defect, Mesoaxial hand polydactyly, Partial atrioventricu... |
OMIM:615996 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di... |
OMIM:601894 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Splenomegaly, Mediastinal lymphadenopathy, Decreased specific anti-polysaccharide antibody level,... |
OMIM:300853 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating total IgM, Cervical lymphadenopathy, Decreased circulating IgG level |
OMIM:618987 |
Pseudohypoparathyroidism Type 1A |
|
Short metatarsal, Reduced bone mineral density, Hypocalcemia, Hypocalcemic tetany, Broad distal p... |
ORPHA:79443 |
Focal Segmental Glomerulosclerosis 6 |
|
Proteinuria, Edema, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis... |
OMIM:614131 |
Renal Glucosuria |
|
Glycosuria, Polyuria, Enuresis nocturna |
OMIM:233100 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased circulating IgA level, Mediastinal lymphadenopathy, Cervical lymphadenopathy, Splenomeg... |
OMIM:618534 |
Schnitzler Syndrome |
|
Arthritis, Increased bone mineral density, Vasculitis |
ORPHA:37748 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Absent specific antibody response, Follicular hyperplasia, Lymphadenopathy, Decreased circulating... |
OMIM:619846 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Small for gestational age, Proteinuria, Short stature, Cor pulmonale, Nephrotic syndrome, Mucopol... |
OMIM:215250 |
Grant Syndrome |
|
Bowing of the long bones, Short stature, Decreased skull ossification, Joint hyperflexibility, Ab... |
ORPHA:2097 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Obesity, Craniosynostosis, Cardiomegaly |
ORPHA:88643 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Short stature, Polyuria, Megacystis, Hypertonic dehydration, Hypernatremia, Failure to thrive |
OMIM:125800 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Short stature, Polyuria, Megacystis, Hypertonic dehydration, Hypernatremia, Failure to thrive |
OMIM:304800 |
Immunodeficiency 105 |
|
Skin rash, Absence of lymph node germinal center, Decreased circulating antibody level, Hepatospl... |
OMIM:619924 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Inflammatory abnormality of the skin, Sinusitis, Absence of lymph node germinal center, Increased... |
ORPHA:277 |
Protoporphyria, Erythropoietic, X-Linked |
|
Elevated hepatic transaminase, Cholelithiasis |
OMIM:300752 |
Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Polydactyly, Obesity, Renal cyst |
OMIM:615987 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Skin rash, Splenomegaly, Increased circulating ferritin concentration, Lymphadenopathy, Conjuncti... |
OMIM:603552 |
Immunodeficiency 76 |
|
Splenomegaly, Recurrent pneumonia, Colitis, Lymphadenopathy |
OMIM:619164 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... |
OMIM:619849 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Polyhyd... |
OMIM:602522 |
Cantu Syndrome |
|
Bicuspid aortic valve, Broad hallux, Short hallux, Lymphedema, Cardiomegaly, Large for gestationa... |
OMIM:239850 |
Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Renal insufficiency, Proteinuria, Recurrent fractures, Osteomalacia, Short stature, R... |
OMIM:613388 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Pericarditis, Skin rash, Elevated circulating C-reactive protein concentration,... |
ORPHA:85414 |
Hyperaldosteronism, Familial, Type Iii |
|
Polyuria, Hypercalciuria, Hypertension, Hypokalemia, Decreased circulating renin level |
OMIM:613677 |
Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
Vitamin D-Dependent Rickets, Type 2A |
|
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiosteal bone resorption, Delaye... |
OMIM:277440 |
Aplasia Cutis Congenita |
|
Spinal dysraphism |
ORPHA:1114 |
Bardet-Biedl Syndrome 16 |
|
Renal insufficiency, Renal agenesis, Short stature, Stage 5 chronic kidney disease, Obesity, Rena... |
OMIM:615993 |
Cranio-Osteoarthropathy |
|
Joint stiffness, Osteoarthritis, Abnormal tibia morphology, Clubbing of toes, Deviation of finger... |
ORPHA:1525 |
Nephrotic Syndrome, Type 7 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic... |
OMIM:615008 |
Mycosis Fungoides |
|
Psoriasiform dermatitis, Eczema, Lymphadenopathy |
OMIM:254400 |
Gaucher Disease |
|
Osteopenia, Elevated circulating C-reactive protein concentration, Osteoarthritis, Hydrops fetali... |
ORPHA:355 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Increased bone mineral density, Severe short stature, High iliac wing, Aortic valve stenosis, Ost... |
ORPHA:2780 |
Renal Failure, Progressive, With Hypertension |
|
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... |
OMIM:161900 |
Focal Segmental Glomerulosclerosis 1 |
|
Proteinuria, Edema, Hyperlipidemia, Stage 5 chronic kidney disease, Hypertension, Focal segmental... |
OMIM:603278 |
Hyperoxaluria, Primary, Type I |
|
Hyperoxaluria, Increased bone mineral density, Renal insufficiency, Calcium oxalate nephrolithias... |
OMIM:259900 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Broad femoral neck, Short tubular bones of the hand, ... |
ORPHA:85184 |
Lipoprotein Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity |
OMIM:611771 |
Nephrotic Syndrome, Type 2 |
|
Proteinuria, Edema, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomeruloscle... |
OMIM:600995 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
Nail-Patella-Like Renal Disease |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Short stature, Hypertension, Microscopic hematuria |
ORPHA:2613 |
Preeclampsia |
|
Increased body mass index, Small for gestational age, Abnormality of the kidney, Proteinuria, Chr... |
ORPHA:275555 |
Osteopetrosis, Autosomal Recessive 6 |
|
Dense metaphyseal bands, Osteopetrosis, Erlenmeyer flask deformity of the femurs, Cortical sclero... |
OMIM:611497 |
Osteopetrosis, Autosomal Recessive 4 |
|
Increased bone mineral density, Recurrent fractures, Growth delay, Osteopetrosis, Petechiae |
OMIM:611490 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Osteomyelitis, Bronchiectasis, Absence of lymph node germinal center |
OMIM:608184 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Proteinuria, Camptodactyly of finger, Cachexia, Polyhydramnios, Limitation of joint mobility, Ost... |
ORPHA:2774 |
Renal Hypoplasia, Bilateral |
|
Hyponatremia, Small for gestational age, Proteinuria, Edema, Microscopic hematuria, Short stature... |
ORPHA:97362 |
Craniorachischisis |
|
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism |
ORPHA:63260 |
Tularemia |
|
Skin rash, Pneumonia, Erythema nodosum, Abnormal nasopharyngeal adenoid morphology, Cervical lymp... |
ORPHA:3392 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration, Follicular hy... |
OMIM:615559 |
Schwartz-Jampel Syndrome |
|
Elevated circulating creatine kinase concentration, Polyhydramnios, Micromelia, Coxa vara, Wrist ... |
ORPHA:800 |
Mast Cell Sarcoma |
|
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:66661 |
Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Fractures of the long ... |
OMIM:166600 |
Arima Syndrome |
|
Proteinuria, Polyuria, Postaxial hand polydactyly, Growth delay, Stage 5 chronic kidney disease, ... |
OMIM:243910 |
Hyperprolinemia Type 1 |
|
Nephropathy, Proteinuria, Hyperprolinemia, Prolinuria |
ORPHA:419 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Gorham-Stout Disease |
|
Osteopenia, Osteomyelitis, Abnormal pelvis bone morphology, Edema, Osteolysis involving bones of ... |
ORPHA:73 |
Laryngeal Neuroendocrine Tumor |
|
Elevated carcinoembryonic antigen level, Chronic noninfectious lymphadenopathy |
ORPHA:100083 |
Nephrotic Syndrome, Type 9 |
|
Proteinuria, Edema, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypoalbum... |
OMIM:615573 |
Rosaï-Dorfman Disease |
|
Dysgammaglobulinemia, Lymphadenopathy |
ORPHA:158014 |
Urban-Rogers-Meyer Syndrome |
|
Hypoplasia of penis, Toe syndactyly, Short stature, Camptodactyly of finger, Recurrent fractures,... |
ORPHA:3409 |
Fanconi Renotubular Syndrome 3 |
|
Hyperphosphaturia, Short stature, Bowing of the legs, Elevated circulating creatinine concentrati... |
OMIM:615605 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Hepatomegaly, Jaundice, Intrahepatic cholestasis, Cholelithiasis |
OMIM:605479 |
Werner Syndrome |
|
Renal neoplasm, Increased bone mineral density, Telangiectasia of the skin, Rocker bottom foot, M... |
ORPHA:902 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Splenomegaly, Bronchiectasis, Lymphadenopath... |
OMIM:616100 |
Neuraminidase Deficiency |
|
Urinary excretion of sialylated oligosaccharides, Proteinuria, Short stature, Cardiomegaly, Facia... |
OMIM:256550 |
Generalized Eruptive Histiocytosis |
|
Maculopapular exanthema, Lymphadenopathy |
ORPHA:157991 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal endosteal sclerosis, ... |
OMIM:144750 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Short stature, Osteomalacia, Bowing of the legs, Abnormal circulati... |
OMIM:307800 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Chronic oral candidiasis, Increased circulating IgE level, Lymphadenopathy |
OMIM:212050 |
Budd-Chiari Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome... |
ORPHA:131 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... |
ORPHA:567544 |
Zttk Syndrome |
|
Aortic regurgitation, Ventricular septal defect, Polyuria, Craniosynostosis, Unilateral renal age... |
OMIM:617140 |
Desbuquois Dysplasia 1 |
|
Triangular shaped phalanges of the hand, Osteoarthritis, Metaphyseal widening, Short metatarsal, ... |
OMIM:251450 |
Joubert Syndrome 15 |
|
Exencephaly |
OMIM:614464 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... |
OMIM:616217 |
Maternally-Inherited Diabetes And Deafness |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Congestive heart failure, Hypertension, Arrhyth... |
ORPHA:225 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Short stature, Recurrent fractures, Polyhydramnios, Limitation of joint mobility, Slender long bo... |
ORPHA:1486 |
Nephrotic Syndrome, Type 11 |
|
Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Arachnodactyly, Minimal chan... |
OMIM:616730 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Claw hand deformity, Elevated circulating creatine kinase concentration, Proteinuria, Stage 5 chr... |
OMIM:614455 |
Pfapa Syndrome |
|
Splenomegaly, Infectious encephalitis, Arthritis, Lymphadenopathy |
ORPHA:42642 |
Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
Acropectorovertebral Dysplasia |
|
Spina bifida |
ORPHA:957 |
Mu-Heavy Chain Disease |
|
Splenomegaly, Increased circulating antibody level, Lymphadenopathy |
ORPHA:100024 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Bowing of the long bones, Toe syndactyly, Hypospadias, Renal agenesis, Craniosynostosis, Patent d... |
ORPHA:171839 |
Adenine Phosphoribosyltransferase Deficiency |
|
Renal insufficiency, Atrial fibrillation, Proteinuria, Recurrent urinary tract infections, Dysuri... |
ORPHA:976 |
Alpha-Heavy Chain Disease |
|
Splenomegaly, Dysgammaglobulinemia, Lymphadenopathy |
ORPHA:100025 |
Pycnodysostosis |
|
Joint laxity, Increased bone mineral density, Rhizomelia, Overweight, Generalized osteosclerosis,... |
ORPHA:763 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Increased bone mineral density, Short stature, Osteopetrosis, Decreased body weight, Clinodactyly... |
OMIM:617306 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Short stature, Polyhydramnios, Growth delay, Osteopetrosis, Reduced renal corticomedullary differ... |
OMIM:618541 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Atrial septal defect,... |
OMIM:250220 |
Nephrotic Syndrome, Type 15 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Hypoalbuminemia, ... |
OMIM:617609 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Hypercalcemia, Bone cyst |
ORPHA:2668 |
Aicardi-Goutieres Syndrome 9 |
|
Edema, Hypoalbuminemia, Micropenis, Portal hypertension, Pericardial effusion, Osteoporosis, Thic... |
OMIM:619487 |
Cystinosis |
|
Renal insufficiency, Proteinuria, Short stature, Portal hypertension, Rickets, Dehydration, Renal... |
ORPHA:213 |
Pseudohypoparathyroidism, Type Ia |
|
Short metacarpal, Short stature, Short toe, Osteoporosis, Obesity, Short metatarsal, Subcutaneous... |
OMIM:103580 |
Nephrosialidosis |
|
Renal insufficiency, Pericardial effusion, Nephrotic syndrome, Nephropathy, Ascites |
OMIM:256150 |
12Q14 Microdeletion Syndrome |
|
Short stature, Ectopic kidney, Osteopoikilosis, Renal hypoplasia, Horseshoe kidney, Clinodactyly ... |
ORPHA:94063 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Lymphocytic interstitial pneumonia, Splenomegaly, Lymphadenopathy, Increased circulating IgG leve... |
OMIM:618495 |
Poems Syndrome |
|
Sclerosis of hand bone, Sclerosis of foot bone, Edema, Pericardial effusion, Metaphyseal sclerosi... |
ORPHA:2905 |
Summitt Syndrome |
|
Syndactyly, Obesity, Craniosynostosis |
OMIM:272350 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Nephrotic syndrome, Hypoalbuminemia, Edema, Proteinuria |
OMIM:614652 |
Carpenter Syndrome 1 |
|
Duplication of the proximal phalanx of the hallux, Atrial septal defect, Clinodactyly of the 5th ... |
OMIM:201000 |
Iga Nephropathy, Susceptibility To, 2 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i... |
OMIM:613944 |
Carpenter Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Craniosynostosis, Patent ductus arteriosus, Postax... |
ORPHA:65759 |
Follicular Lymphoma |
|
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:545 |
Diffuse Cutaneous Systemic Sclerosis |
|
Renal insufficiency, Telangiectasia of the skin, Congestive heart failure, Flexion contracture, X... |
ORPHA:220393 |
Galloway-Mowat Syndrome 6 |
|
Proteinuria, Short stature, Growth delay, Nephrotic syndrome, Focal segmental glomerulosclerosis,... |
OMIM:618347 |
Proteus Syndrome |
|
Calvarial hyperostosis, Facial hyperostosis, Mandibular hyperostosis, Thin bony cortex |
OMIM:176920 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Thin bony cortex, Rhizomelia, Femoral bowing, Short 4th metacarpal, Broad thumb, Short 5th metaca... |
OMIM:619638 |
Metachromatic Leukodystrophy |
|
Gallbladder dysfunction, Cholecystitis |
OMIM:250100 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Patent foramen ovale, C... |
ORPHA:60041 |
Isolated Klippel-Feil Syndrome |
|
Spina bifida |
ORPHA:2345 |
Free Sialic Acid Storage Disease |
|
Failure to thrive in infancy, Proteinuria, Hydrops fetalis, Reduced bone mineral density, Nephrot... |
ORPHA:834 |
Fanconi Renotubular Syndrome 1 |
|
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Short s... |
OMIM:134600 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Arachnodactyly, Sandal gap, Micromelia, Short stature, Abnormality of the ureter, Obesity, Genu v... |
ORPHA:1035 |
Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Disproportionate short stature, Abnormal ... |
OMIM:224300 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Splenomegaly, Lymphadenopathy |
ORPHA:86893 |
Caffey Disease |
|
Calvarial hyperostosis, Cortical thickening of long bone diaphyses, Cortical irregularity, Perios... |
ORPHA:1310 |
Dysostosis, Stanescu Type |
|
Increased bone mineral density, Bowing of the long bones, Short stature, Micromelia, Abnormal epi... |
ORPHA:1798 |
Macrophage Activation Syndrome |
|
Increased inflammatory response, Increased circulating interleukin 6 concentration, Elevated circ... |
ORPHA:158061 |
Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Genu valgum, Hypertension, Glycosuria, Aminoaciduria... |
OMIM:618913 |
Iga Nephropathy, Susceptibility To, 3 |
|
Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, Hypertension,... |
OMIM:616818 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Eczema, Absent peripheral lymph nodes in presence of infection, Abnormal immunoglobulin level, In... |
ORPHA:98813 |
Osteopetrosis, Autosomal Recessive 5 |
|
Increased bone mineral density, Short stature, Cranial hyperostosis, Flared metaphysis, Growth de... |
OMIM:259720 |
Focal Segmental Glomerulosclerosis 2 |
|
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Hypertension, Focal segmenta... |
OMIM:603965 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Splenomegaly, Bronchiectasis, Ato... |
ORPHA:436159 |
Summitt Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Craniosynostosis, Obesity, Genu valgum, Short palm, C... |
ORPHA:3210 |
Fountain Syndrome |
|
Facial edema, Spina bifida occulta, Spina bifida |
ORPHA:3219 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Spina bifida |
ORPHA:1327 |
Kenny-Caffey Syndrome, Type 2 |
|
Transient hypophosphatemia, Increased bone mineral density, Severe short stature, Small for gesta... |
OMIM:127000 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Splenomegaly, Recurrent pneumonia, Bronchiectasis, Lymphadenopathy, Recurrent aphthous stomatitis... |
OMIM:150550 |
Heme Oxygenase 1 Deficiency |
|
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... |
OMIM:614034 |
Desmosterolosis |
|
Failure to thrive, Rhizomelia, Generalized osteosclerosis, Patent ductus arteriosus, Abnormal cir... |
OMIM:602398 |
Genetic Recurrent Myoglobinuria |
|
Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Hyperka... |
ORPHA:99845 |
Senior-Loken Syndrome 9 |
|
Osteopenia, Hypoplasia of the femoral head, Stage 5 chronic kidney disease, Obesity, Tubulointers... |
OMIM:616629 |
Nephronophthisis 4 |
|
Polyuria, Stage 5 chronic kidney disease, Growth delay, Renal corticomedullary cysts, Nephronopht... |
OMIM:606966 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Abnormal penis morphology, Finger syndactyly, Increased bone mineral density, Severe short statur... |
ORPHA:2658 |
Pseudohypoparathyroidism, Type Ic |
|
Short metacarpal, Short stature, Osteoporosis, Obesity, Short metatarsal, Hyperphosphatemia, Hypo... |
OMIM:612462 |
Dent Disease 2 |
|
Short stature, Elevated circulating creatine kinase concentration, Chronic kidney disease, Hyperc... |
OMIM:300555 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Patchy osteosclerosis, Postnatal growth retardation, Small hand, Short foot, Hyperphosphatemia, H... |
OMIM:241410 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Osteoporosis, Increased body weight, Hypertension, Abdominal ob... |
OMIM:615954 |
Cinca Syndrome |
|
Skin rash, Elevated circulating C-reactive protein concentration, Uveitis, Lymphadenopathy, Hepat... |
OMIM:607115 |
Hepatic Veno-Occlusive Disease |
|
Renal insufficiency, Ascites, Increased body weight, Increased total bilirubin |
ORPHA:890 |
Hemorrhagic Fever-Renal Syndrome |
|
Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis... |
ORPHA:340 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wrist flexion cont... |
OMIM:259600 |
Ghosal Hematodiaphyseal Dysplasia |
|
Myelofibrosis, Increased bone mineral density, Diaphyseal dysplasia, Hyperostosis cranialis interna |
OMIM:231095 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Dysgammaglobulinemia, Elevated circulating C-reactive protein concentration, Splenomegaly, Fulmin... |
OMIM:308240 |
Nephrotic Syndrome, Type 17 |
|
Proteinuria, Short stature, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, M... |
OMIM:618176 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology |
ORPHA:97290 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Proteinuria, Short stature, Limitation of joint mobility, Hypertension, Nephrotic syndrome, Abnor... |
ORPHA:1192 |
Rhizomelic Limb Shortening With Dysmorphic Features |
|
Hyperextensibility of the finger joints, Rhizomelia, Short thumb, Obesity, Limited shoulder movem... |
OMIM:618821 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Osteopenia, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical sclerosis, Pa... |
OMIM:112250 |
Galloway-Mowat Syndrome 8 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome... |
OMIM:618349 |
Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
Caffey Disease |
|
Cortical irregularity, Bowing of the legs, Periosteal thickening of long tubular bones, Tibial bo... |
OMIM:114000 |
Granulomatous Slack Skin |
|
Abnormal lymph node morphology |
ORPHA:33111 |
Galloway-Mowat Syndrome 2, X-Linked |
|
Proteinuria, Arachnodactyly, Short stature, Minimal change glomerulonephritis, Stage 5 chronic ki... |
OMIM:301006 |
Iniencephaly |
|
Encephalocele, Spina bifida, Polyhydramnios, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal... |
ORPHA:63259 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hyperphosphaturia, Hypouricemia, Proteinuria, Short stature, Large for gestational age, Rickets, ... |
OMIM:616026 |
Anophthalmia Plus Syndrome |
|
Spina bifida |
ORPHA:1104 |
Craniofaciofrontodigital Syndrome |
|
Osteopenia, Bicuspid aortic valve, Edema, Large for gestational age, Polyhydramnios, Cardiomegaly... |
ORPHA:363705 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... |
ORPHA:79302 |
Iga Nephropathy, Susceptibility To, 1 |
|
IgA deposition in the glomerulus, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hyperte... |
OMIM:161950 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology |
ORPHA:319487 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Hepatomegaly, Splenomegaly, Jaundice, Cholecystitis, Cholelithiasis |
OMIM:266200 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Osteomyelitis, Elevated circulating C-reactive protein concentration, Edema, Abnormal sacroiliac ... |
ORPHA:324964 |
Raine Syndrome |
|
Increased bone mineral density, Hydroureter, Bowing of the long bones, Short stature, Micromelia,... |
OMIM:259775 |
Williams Syndrome |
|
Osteopenia, Hypoplasia of penis, Bicuspid aortic valve, Elevated circulating creatine kinase conc... |
ORPHA:904 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Osteopenia, Hypoplasia of the ulna, Ureteral stenosis, Hydroureter, Large for gestational age, Pa... |
OMIM:615398 |
Al Amyloidosis |
|
Increased circulating NT-proBNP concentration, Xerostomia, Hypoalbuminemia, Abnormal EKG, Abnorma... |
ORPHA:85443 |
Nephrotic Syndrome, Type 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Small for gestat... |
OMIM:256300 |
Nephrotic Syndrome, Type 6 |
|
Proteinuria, Edema, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segm... |
OMIM:614196 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal insufficiency, Short stature, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosc... |
OMIM:308990 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Short metacarpal, Hypospadias, Short metatarsal, Advanced ossification of carpal bones, Obesity, ... |
OMIM:614613 |
Phakomatosis Pigmentokeratotica |
|
Raynaud phenomenon, Arrhythmia, Spina bifida, Lymphedema |
ORPHA:2874 |
Galloway-Mowat Syndrome 7 |
|
Diffuse mesangial sclerosis, Hallux valgus, Ventricular septal defect, Proteinuria, Edema, Minima... |
OMIM:618348 |
Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Bowing of the long bones, Joint hypermobility, Recurrent fractures, Femoral bowing,... |
OMIM:617952 |
Helix Syndrome |
|
Renal insufficiency, Polyuria, Hypermagnesemia, Xerostomia, Nephrolithiasis, Hypokalemia, Hypocal... |
OMIM:617671 |
Lymphoproliferative Syndrome 2 |
|
Splenomegaly, Recurrent pneumonia, EBV encephalitis, Uveitis, Hepatosplenomegaly, Lymphadenopathy... |
OMIM:615122 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Hip contracture, Short stature, Coxa valga, Disproportionate short stature, Advanced ossification... |
OMIM:618363 |
Nephronophthisis 11 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Growth delay,... |
OMIM:613550 |
Senior-Loken Syndrome 1 |
|
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... |
OMIM:266900 |
Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Ketonuria, Hypouricemia, Osteomalacia, Proteinuria, Postnatal growth retardati... |
OMIM:227810 |
Czeizel-Losonci Syndrome |
|
Myelomeningocele, Spina bifida occulta, Hydrocephalus, Spina bifida |
ORPHA:2437 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... |
OMIM:618773 |
Camurati-Engelmann Disease |
|
Increased bone mineral density, Diaphyseal sclerosis, Genu valgum, Cortical thickening of long bo... |
OMIM:131300 |
Classic Mycosis Fungoides |
|
Splenomegaly, Skin rash, Eczema, Lymphadenopathy |
ORPHA:2584 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Ventricular septal defect, Proteinuria, Conjugated hyperbilirubinemia, Nephropathy, Nephrocalcino... |
OMIM:613404 |
Neu-Laxova Syndrome 2 |
|
Polyhydramnios, Spina bifida, Edema |
OMIM:616038 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Short stature, Elevated circulating creatine kinase concentration, Osteopor... |
ORPHA:264580 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holoprosencephaly |
ORPHA:1908 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Small for gestational age, Cardiomegaly, Pericardial effusion, Hyperammonemia, Ascites, Pleural e... |
OMIM:614702 |
Systemic Capillary Leak Syndrome |
|
Pericarditis, Renal insufficiency, Abnormal renal tubule morphology, Myocarditis, Oliguria, Pedal... |
ORPHA:188 |
Blomstrand Lethal Chondrodysplasia |
|
Increased bone mineral density, Short metacarpal, Rhizomelia, Bowing of the long bones, Polyhydra... |
ORPHA:50945 |
Focal Segmental Glomerulosclerosis 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Hypertension, Focal segmental glomerulosclerosis, Mi... |
OMIM:613237 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Periventricular heterotopia, Increased skull ossification, Craniofacial osteosclerosis, Metaphyse... |
OMIM:618476 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Renal insufficiency, Proteinuria, Hematuria, Hypertension, Focal segmental glomerulosclerosis |
OMIM:607832 |
Nephrotic Syndrome, Type 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Edema, Stage 5 chronic kidney disease, Focal segmental ... |
OMIM:610725 |
Distal Triplication 15Q |
|
Arachnodactyly, Abnormality of the kidney, Craniosynostosis, Large for gestational age, Birth len... |
ORPHA:314588 |
Osteopetrosis, Autosomal Recessive 2 |
|
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Cranial hyperostosis, Diaphyseal sc... |
OMIM:259710 |
Pseudopseudohypoparathyroidism |
|
Short metacarpal, Short stature, Short metatarsal, Osteoporosis, Obesity, Brachydactyly |
OMIM:612463 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial skin infections, Skin rash, Pneumonia, Lymphadenitis, Chronic mucocutaneous c... |
ORPHA:911 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Splenomegaly, Abnormal lymph node morphology, Recurrent skin infections, Hepatosplenomegaly |
OMIM:612840 |
Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Lymphedema, Atrioventricular block, Abnormal fe... |
ORPHA:324 |
C3 Glomerulopathy |
|
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext... |
ORPHA:329918 |
Oculodentodigital Dysplasia |
|
Finger syndactyly, Neurogenic bladder, Toe syndactyly, Ventricular septal defect, Camptodactyly o... |
ORPHA:2710 |
Sanjad-Sakati Syndrome |
|
Hypoplasia of penis, Short stature, Patchy osteosclerosis, Postnatal growth retardation, Small ha... |
ORPHA:2323 |
Craniometaphyseal Dysplasia |
|
Craniofacial hyperostosis, Abnormal metaphysis morphology, Osteopetrosis |
ORPHA:1522 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Tricuspid regurgitation, Spina bifida |
ORPHA:1120 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Mild postnatal growth retardation, Lymphedema, Periorbital edema, Ectopic kidney, Cutaneous finge... |
OMIM:235510 |
Primary Fanconi Renotubular Syndrome |
|
Bicarbonaturia, Dehydration, Low-molecular-weight proteinuria, Hypophosphatemic rickets, Hypouric... |
ORPHA:3337 |
Pseudomyxoma Peritonei |
|
Inflammation of the large intestine, Lymphadenopathy |
ORPHA:26790 |
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Postnatal growth retardation, Acromicria, Small hand, Obesity, Abnormal heart morphology, Short f... |
ORPHA:254525 |
Adenine Phosphoribosyltransferase Deficiency |
|
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Elevated circulating creatinine concentra... |
OMIM:614723 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Tachycardia, Proteinuria, Large for gestational age, Abnormal circulating fatty-acid concentratio... |
ORPHA:263455 |
Waardenburg Syndrome Type 1 |
|
Meningocele, Spina bifida |
ORPHA:894 |
Schimke Immunoosseous Dysplasia |
|
Osteopenia, Renal insufficiency, Small for gestational age, Transient ischemic attack, Proteinuri... |
OMIM:242900 |
Osteogenesis Imperfecta, Type X |
|
Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Rhizomelia, Short stature, Micro... |
OMIM:613848 |
Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Elevated pulmonary artery pressure, Edema, Pulmonary edema |
OMIM:178400 |
Amelogenesis Imperfecta, Type Ig |
|
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis, ... |
OMIM:204690 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... |
OMIM:612925 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Dicarboxylic aciduria, Elevated circulating acylcarnitine concentration, Ventricular tachycardia,... |
ORPHA:159 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate exc... |
OMIM:211900 |
Nephrotic Syndrome, Type 23 |
|
Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome... |
OMIM:619201 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Skin rash, Neutrophilic infiltration of the skin, Elevated circulating C-reactive protein concent... |
OMIM:618048 |
Tricho-Dento-Osseous Syndrome |
|
Finger clinodactyly, Increased bone mineral density |
ORPHA:3352 |
Indolent Systemic Mastocytosis |
|
Skin rash, Splenomegaly, Maculopapular exanthema, Lymphadenopathy |
ORPHA:98848 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachycardia, Heart block, Elevated circulating creatinine concentration, Capillary leak, Reduced ... |
ORPHA:542323 |
Wild Type Attr Amyloidosis |
|
Abnormal EKG, Renal insufficiency, Proteinuria, Myocardial infarction, Congestive heart failure, ... |
ORPHA:330001 |
Senior-Loken Syndrome 3 |
|
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis |
OMIM:606995 |
Drug-Induced Lupus Erythematosus |
|
Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive... |
ORPHA:231111 |
Osteogenesis Imperfecta |
|
Osteopenia, Micromelia, Osteoarthritis, Flexion contracture, Abnormal tibia morphology, Abnormal ... |
ORPHA:666 |
Burkitt Lymphoma |
|
Abnormality of the spleen, Abnormal lymph node morphology |
ORPHA:543 |
Proximal Renal Tubular Acidosis |
|
Mild postnatal growth retardation, Bicarbonaturia, Dehydration, Reduced bone mineral density, Nep... |
ORPHA:47159 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Recurrent fractures, Cranio... |
ORPHA:251004 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating interleukin 6 concentration, Maculopapular exanthema, Skin rash, Increased ... |
ORPHA:540 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Generalized lymphadenopathy, Pneumonia, Erythema nodosum, Splenomegaly, Recur... |
OMIM:614700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Acute pancreatitis, Eczema, Perianal abscess, Splenomegaly, Lymphadenitis, Recurrent tonsillitis,... |
OMIM:618935 |
19P13.12 Microdeletion Syndrome |
|
Aortic regurgitation, Finger syndactyly, Toe clinodactyly, Ventricular septal defect, Hypospadias... |
ORPHA:254346 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Dysgammaglobulinemia, Increased circulating IgA level, Absence of lymph node germinal center, Spl... |
OMIM:308230 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Brachydactyly, Short stature, Bifid distal phalanx of the thumb, Overweight, Triangular shaped di... |
ORPHA:370010 |
Paget Disease Of Bone 2, Early-Onset |
|
Bowing of the long bones, Short femur, Hypercalcemia, Fractures of the long bones, Osteolysis, In... |
OMIM:602080 |
Immunodeficiency 97 With Autoinflammation |
|
Recurrent skin infections, Eczema, Increased circulating ferritin concentration, Mediastinal lymp... |
OMIM:619802 |
Focal Segmental Glomerulosclerosis 7 |
|
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... |
OMIM:616002 |
Atypical Werner Syndrome |
|
Sclerosis of hand bone, Reduced bone mineral density, Finger clinodactyly, Short palm, Renal neop... |
ORPHA:79474 |
Nephrotic Syndrome, Type 8 |
|
Diffuse mesangial sclerosis, Proteinuria, Edema, Chronic kidney disease, Stage 5 chronic kidney d... |
OMIM:615244 |
Florid Cemento-Osseous Dysplasia |
|
Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno... |
ORPHA:83451 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Tricuspid regurgitation, Increased circulating NT-proBNP concentration, Elevated circulating crea... |
OMIM:620300 |
Fibrous Dysplasia Of Bone |
|
Abnormal morphology of the radius, Thin bony cortex, Cortical irregularity, Bowing of the long bo... |
ORPHA:249 |
Boutonneuse Fever |
|
Maculopapular exanthema, Skin rash, Cervical lymphadenopathy, Lymphadenopathy, Increased circulat... |
ORPHA:83313 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Elevated circulating C-reactive protein concentration, Recurrent pneumonia, Lymphadenopathy, Hepa... |
OMIM:619750 |
Nephrotic Syndrome, Type 18 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... |
OMIM:618177 |
Nephrotic Syndrome, Type 19 |
|
Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan... |
OMIM:618178 |
Nephrotic Syndrome, Type 20 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... |
OMIM:301028 |
Thrombotic Thrombocytopenic Purpura |
|
Renal insufficiency, Proteinuria, Myocardial infarction, Hematuria, Decreased serum creatinine, A... |
ORPHA:54057 |
Weill-Marchesani Syndrome 1 |
|
Ventricular septal defect, Short stature, Proportionate short stature, Joint stiffness, Broad met... |
OMIM:277600 |
Focal Segmental Glomerulosclerosis 8 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:616032 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Short stature, Myocardial infarction, Overweight, Cranial hyperostosis, Hip dysplasia, Micropenis |
ORPHA:457240 |
Distal Renal Tubular Acidosis |
|
Hypocitraturia, Dehydration, Reduced bone mineral density, Renal cyst, Nephrocalcinosis, Aminoaci... |
ORPHA:18 |
Nail-Patella Syndrome |
|
Abnormal tibia morphology, Flexion contracture, Abnormal femur morphology, Patellar hypoplasia, K... |
ORPHA:2614 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612926 |
Pachydermoperiostosis |
|
Gastrointestinal hemorrhage, Osteomyelitis, Edema, Limitation of joint mobility, Osteoporosis, Os... |
ORPHA:2796 |
Osteopetrosis, Autosomal Recessive 8 |
|
Failure to thrive, Osteopetrosis |
OMIM:615085 |
Hypouricemia, Renal, 1 |
|
Hypouricemia, Proteinuria, Elevated circulating creatinine concentration, Urolithiasis, Renal tub... |
OMIM:220150 |
Cyclic Neutropenia |
|
Sinusitis, Recurrent skin infections, Perianal abscess, Cervical lymphadenopathy, Recurrent tonsi... |
ORPHA:2686 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Hydrops Fetalis |
|
Small for gestational age, Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial eff... |
ORPHA:1041 |
Aapoaiv Amyloidosis |
|
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Proteinuria, Cardiac ... |
ORPHA:439232 |
Amyloidosis, Familial Visceral |
|
Proteinuria, Edema, Hematuria, Hypertension, Nephrotic syndrome, Nephropathy |
OMIM:105200 |
Systemic Sclerosis |
|
Elevated circulating creatine kinase concentration, Flexion contracture, Intestinal bleeding, Int... |
ORPHA:90291 |
Nephrotic Syndrome, Type 16 |
|
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis |
OMIM:617783 |
Galloway-Mowat Syndrome 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Arachnodactyly, Edema, Short stature, Pachygyria, Hip d... |
OMIM:617729 |
Microscopic Polyangiitis |
|
Gastrointestinal hemorrhage, Glomerulopathy, Pericarditis, Renal insufficiency, Epistaxis, Conges... |
ORPHA:727 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Joint laxity, Ra... |
OMIM:300106 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Splenomegaly, Glomerulonephritis, Thyroiditis, Lymphadenopathy |
OMIM:619375 |
Focal Segmental Glomerulosclerosis 10 |
|
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... |
OMIM:256020 |
Lysinuric Protein Intolerance |
|
Osteopenia, Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Renal fibrosis... |
ORPHA:470 |
Morgagni-Stewart-Morel Syndrome |
|
Osteoarthritis, Osteoporosis, Obesity, Hypertension, Hyperostosis frontalis interna, Hyperuricemi... |
ORPHA:77296 |
Gallbladder Neuroendocrine Tumor |
|
Biliary tract neoplasm, Extrahepatic cholestasis, Intermittent jaundice, Cholecystitis, Biliary t... |
ORPHA:100086 |
Paget Disease Of Bone 3 |
|
Fractures of the long bones, Osteolysis, Patchy osteosclerosis |
OMIM:167250 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612924 |
Classic Hodgkin Lymphoma |
|
Splenomegaly, Skin rash, Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:391 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Short stature, Abnormal renal morphology, Increased body weight, Abnormal h... |
OMIM:182290 |
15Q24 Microdeletion Syndrome |
|
Joint laxity, Small for gestational age, Hypospadias, Proximal placement of thumb, Short stature,... |
ORPHA:94065 |
Sirenomelia |
|
Spina bifida, Sirenomelia |
ORPHA:3169 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Ventricular septal defect, Proteinuria, Sagittal craniosynostosis, Short stature, Hematuria, Tubu... |
OMIM:616901 |
Pycnodysostosis |
|
Increased bone mineral density, Short stature, Aplastic clavicle, Osteolytic defects of the dista... |
OMIM:265800 |
Colchicine Poisoning |
|
Hyponatremia, Renal insufficiency, Congestive heart failure, Myocarditis, Hypovolemia, Abnormal b... |
ORPHA:31824 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Renal insufficiency, Proteinuria, Short stature, Conjugated hyperbilirubi... |
OMIM:208500 |
Stüve-Wiedemann Syndrome |
|
Osteopenia, Flexion contracture of finger, Bowing of the long bones, Short stature, Recurrent fra... |
ORPHA:3206 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Generalized lymphadenopathy, Aplasia of the thymus, Pneumonia, Splenomegaly, Increased circulatin... |
OMIM:602450 |
Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... |
OMIM:108800 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Tachycardia, Large for gestational age, Decreased circulating free fatty acid level, Syncope, Pal... |
ORPHA:276556 |
Temple Syndrome |
|
Hypertriglyceridemia, Small for gestational age, Short stature, Overweight, Flexion contracture, ... |
OMIM:616222 |
Leishmaniasis |
|
Splenomegaly, Lymphadenopathy, Rhinitis, Hypoalbuminemia, Increased circulating antibody level |
ORPHA:507 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased circulating apolipoprotein A-I concentration, Gastrointestinal hemorrhage, Decreased HD... |
ORPHA:85450 |
Lujo Hemorrhagic Fever |
|
Shock, Generalized edema, Stiff neck, Renal insufficiency, Elevated circulating C-reactive protei... |
ORPHA:319213 |
Trichothiodystrophy |
|
Osteopenia, Increased bone mineral density, Multiple joint contractures, Ventricular septal defec... |
ORPHA:33364 |
Somatostatinoma |
|
Neoplasm of the pancreas, Hepatomegaly, Intrahepatic cholestasis, Extrahepatic cholestasis, Inter... |
ORPHA:97283 |
Lymphoproliferative Syndrome 1 |
|
Elevated circulating C-reactive protein concentration, Increased circulating ferritin concentrati... |
OMIM:613011 |
Glycogen Storage Disease Ia |
|
Abnormal bleeding, Proteinuria, Short stature, Hyperlipidemia, Osteoporosis, Nephrolithiasis, Gou... |
OMIM:232200 |
Teratoma, Pineal |
|
Polyuria |
OMIM:273120 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Growth delay, Increased circulating ferritin concentration, Osteopetrosis |
ORPHA:3240 |
Juvenile Nephropathic Cystinosis |
|
Dehydration, Abnormal long bone morphology, Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, ... |
ORPHA:411634 |
Osteootohepatoenteric Syndrome |
|
Proteinuria, Recurrent fractures, Avascular necrosis of the capital femoral epiphysis, Grade II v... |
OMIM:619377 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating creatine kinase concentration, Cardiomegaly, Heart block, Red-brown urine, T... |
ORPHA:228308 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Osteopenia, Pericarditis, Proteinuria, Nonimmune hydrops fetalis, Edema, Pericardial effusion, Fl... |
OMIM:212065 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Short stature, Elevated circulating creatine kinase concentration, Postnata... |
ORPHA:79240 |
Immunodeficiency 7 |
|
Recurrent otitis media, Splenomegaly, Chronic oral candidiasis, Lymphadenopathy |
OMIM:615387 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Proteinuria, Glomerulonephritis, Rhizomelia, Short iliac bones, Short stature, Metaphyseal wideni... |
OMIM:614376 |
Osteopetrosis, Autosomal Recessive 3 |
|
Short stature, Cranial hyperostosis, Diaphyseal sclerosis, Osteopetrosis, Distal renal tubular ac... |
OMIM:259730 |
Beemer-Ertbruggen Syndrome |
|
Increased bone mineral density |
ORPHA:1237 |
Fish-Eye Disease |
|
Splenomegaly, Lymphadenopathy |
ORPHA:79292 |
Renal Hypoplasia |
|
Renal insufficiency, Recurrent urinary tract infections, Small for gestational age, Proteinuria, ... |
ORPHA:93101 |
Pelvis-Shoulder Dysplasia |
|
Hydranencephaly, Hydrocephalus, Spina bifida |
ORPHA:2839 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Edema, Minimal change glomerulonephritis, ... |
ORPHA:656 |
Roifman Syndrome |
|
Eczema, Recurrent pneumonia, Hepatosplenomegaly, Lymphadenopathy, Decreased circulating antibody ... |
ORPHA:353298 |
Kaposiform Lymphangiomatosis |
|
Abnormal bleeding, Abnormal ischium morphology, Epidural hemorrhage, Abnormal pelvis bone morphol... |
ORPHA:464329 |
Anti-Glomerular Basement Membrane Disease |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Vasculitis, Hematuria, Arthritis, Purpura |
ORPHA:375 |
Weill-Marchesani Syndrome 2 |
|
Short metacarpal, Ventricular septal defect, Short stature, Proportionate short stature, Joint st... |
OMIM:608328 |
Nephrotic Syndrome, Type 22 |
|
Nephrotic range proteinuria, Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glo... |
OMIM:619155 |
Oligomeganephronia |
|
Branchial cyst, Renal insufficiency, Small for gestational age, Proteinuria, Unilateral renal age... |
ORPHA:2260 |
Aa Amyloidosis |
|
Proteinuria, Abnormality of the kidney, Chronic kidney disease, Abnormal heart morphology, Nephro... |
ORPHA:85445 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Tachycardia, Large for gestational age, Decreased circulating free fatty acid level, Syncope, Pal... |
ORPHA:276575 |
Rothmund-Thomson Syndrome Type 1 |
|
Osteopenia, Abnormal trabecular bone morphology, Calcinosis, Short metacarpal, Small for gestatio... |
ORPHA:221008 |
Peripartum Cardiomyopathy |
|
Ventricular tachycardia, Pedal edema, Left bundle branch block, Right ventricular dilatation, Abn... |
ORPHA:563 |
Mucopolysaccharidosis-Plus Syndrome |
|
Proteinuria, Acetabular dysplasia, Congestive heart failure, Patent ductus arteriosus, Flexion co... |
OMIM:617303 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal wid... |
ORPHA:2502 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Abnormal circulating acylcarnitine concentration, Dicarboxylic aciduria, P... |
ORPHA:71212 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Abnormality of the lymphatic system, Elevated circulating C-reactive protein concentration, Abnor... |
ORPHA:54251 |
Cleidocranial Dysplasia 1 |
|
Increased bone mineral density, Hypoplastic scapulae, Short stature, Aplastic clavicle, Short mid... |
OMIM:119600 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Hyperlipidemia, Osteoporosis, Increased body weight, Nephrolith... |
ORPHA:189427 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Chronic noninfectious lymphadenopathy, Increased circulating IgA level, Follicular hyperplasia, S... |
OMIM:603909 |
Schimke Immuno-Osseous Dysplasia |
|
Nephropathy, Intrauterine growth retardation, Nephrotic range proteinuria, Short stature, Minimal... |
ORPHA:1830 |
Pituitary Adenoma 4, Acth-Secreting |
|
Edema, Osteoporosis, Obesity, Nephrolithiasis, Hypertension, Abdominal obesity, Hypokalemia, Ecch... |
OMIM:219090 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Joint laxity, Recurrent urinary tract infections, Small for gestational age, Short st... |
OMIM:613658 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Ventricular septal defect, Short stature, Postaxial hand polydactyly, Chronic kidney disease, Obe... |
OMIM:615630 |
Distal 16P11.2 Microdeletion Syndrome |
|
Renal agenesis, Abnormality of the kidney, Proteinuria, Arachnodactyly, Chronic kidney disease, O... |
ORPHA:261222 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Tachycardia, Small for gestational age, Elevated circulating creatine kina... |
ORPHA:26793 |
8P23.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Hypospadias, Short stature, Proximal placement of thumb, Tapered finger, Pa... |
ORPHA:251071 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Large for gestational age, Delayed epiphyseal ossification, Bradycardia, Abnormal epiphysis morph... |
ORPHA:226313 |
Rothmund-Thomson Syndrome Type 2 |
|
Osteopenia, Abnormal trabecular bone morphology, Calcinosis, Short metacarpal, Small for gestatio... |
ORPHA:221016 |
Bardet-Biedl Syndrome 8 |
|
Hypospadias, Postaxial polydactyly, Situs inversus totalis, Obesity, Renal dysplasia |
OMIM:615985 |
Amish Lethal Microcephaly |
|
Spina bifida |
ORPHA:99742 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Aortic regurgitation, Bicuspid aortic valve, Short stature, Tapered finger, Overweight, Dilated c... |
ORPHA:401923 |
Autosomal Recessive Malignant Osteopetrosis |
|
Bowing of the long bones, Recurrent fractures, Craniosynostosis, Abnormal pulmonary valve morphol... |
ORPHA:667 |
Mosaic Trisomy 9 |
|
Spina bifida, Hydrops fetalis, Polyhydramnios, Oligohydramnios |
ORPHA:99776 |
Chromosome 17P13.1 Deletion Syndrome |
|
Umbilical hernia, Hydrocephalus, Spina bifida, Oligohydramnios |
OMIM:613776 |
Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
Interstitial Nephritis, Karyomegalic |
|
Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k... |
OMIM:614817 |
Pseudo-Torch Syndrome 3 |
|
Proteinuria, Cerebral hemorrhage, Cardiomegaly, Increased circulating ferritin concentration, Hyp... |
OMIM:618886 |
Congenital Nephrotic Syndrome, Finnish Type |
|
Elevated amniotic fluid alpha-fetoprotein, Nephrotic syndrome, Proteinuria, Abnormal renal tubule... |
ORPHA:839 |
Cholera |
|
Hyponatremia, Tachycardia, Abnormality of renal excretion, Abnormal blood ion concentration, Dehy... |
ORPHA:173 |
Gm1-Gangliosidosis, Type Ii |
|
Joint stiffness, Coxa valga, Patent ductus arteriosus, Limb undergrowth, Failure to thrive, Thin ... |
OMIM:230600 |
Adult-Onset Still Disease |
|
Pericarditis, Generalized lymphadenopathy, Skin rash, Elevated circulating C-reactive protein con... |
ORPHA:829 |
Reni Syndrome |
|
Diffuse mesangial sclerosis, Hypertriglyceridemia, Proteinuria, Edema, Mesangial hypercellularity... |
OMIM:617575 |
Sézary Syndrome |
|
Erythroderma, Splenomegaly, Lymphadenopathy, Abnormal immunoglobulin level |
ORPHA:3162 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Renal insufficiency, Congestive h... |
ORPHA:31826 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Splenomegaly, Increased circulating antibody level, Follicular hyperplasia |
OMIM:614470 |
Felty Syndrome |
|
Episcleritis, Pericarditis, Sinusitis, Splenomegaly, Recurrent pneumonia, Synovitis, Lymphadenopa... |
ORPHA:47612 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Mitral stenosis, Tethered cord, Aortic valve stenosis, Spinal dysraphism |
OMIM:617660 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Splenomegaly, Myositis, Panniculitis, Lymphadenopathy |
OMIM:619183 |
Rothmund-Thomson Syndrome |
|
Osteopenia, Abnormal trabecular bone morphology, Calcinosis, Hypoplasia of the ulna, Small for ge... |
ORPHA:2909 |
Lysinuric Protein Intolerance |
|
Hypolysinemia, Recurrent fractures, Short stature, Increased circulating ferritin concentration, ... |
OMIM:222700 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Osteopenia, Hypertriglyceridemia, Hypercalcemia, Craniosynostosis, Patent ductus arteriosus, Obes... |
ORPHA:369837 |
Fabry Disease |
|
Renal insufficiency, Angina pectoris, Transient ischemic attack, Myocardial infarction, Lymphedem... |
OMIM:301500 |
Pseudohypoparathyroidism, Type Ib |
|
Short metacarpal, Obesity, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PT... |
OMIM:603233 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Osteopenia, Osteoporosis, Increased body weight, Hypertension, Bruising susceptibility |
OMIM:615830 |
Pde4D Haploinsufficiency Syndrome |
|
Joint laxity, Short metacarpal, Hypospadias, Broad hallux, Postnatal growth retardation, Short to... |
ORPHA:439822 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity, Recurrent aphthous stomatitis, Chroni... |
OMIM:301078 |
Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:650 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Tethered cord, Myelomeningocele, Hydrocephalus, Meningocele, Dermal sinus tract, Hy... |
OMIM:600145 |
Galloway-Mowat Syndrome 4 |
|
Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Short stature, Tapered f... |
OMIM:617730 |
Osteopetrosis With Renal Tubular Acidosis |
|
Short stature, Recurrent fractures, Elevated circulating creatine kinase concentration, Distal re... |
ORPHA:2785 |
Cerebrocostomandibular Syndrome |
|
Hydranencephaly, Myelomeningocele, Meningocele, Spina bifida |
ORPHA:1393 |
Noonan Syndrome 8 |
|
Left ventricular hypertrophy, Ventricular septal defect, Polyhydramnios, Large for gestational ag... |
OMIM:615355 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Micropenis, Osteoporosis, Obesity |
OMIM:610628 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... |
OMIM:617300 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Skin rash, Elevated circulating C-reactive protein concentration, Increased circulating IgA level... |
OMIM:617099 |
Spondyloocular Syndrome |
|
Osteopenia, Long toe, Arachnodactyly, Femur fracture, Overlapping toe, Lymphedema, Short stature,... |
OMIM:605822 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Ureteral stenosis, Increased density of long bones, Hypospadias, Hydroureter, Wide distal femoral... |
OMIM:269150 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Elevated circulating creatine kinase concentration, Achilles tendon contracture, Obesity, Heart m... |
OMIM:615418 |
Melkersson-Rosenthal Syndrome |
|
Inflammatory abnormality of the skin, Cheilitis, Lymphadenopathy |
ORPHA:2483 |
Frank-Ter Haar Syndrome |
|
Osteopenia, Secundum atrial septal defect, Short palm, Atrial septal defect, Short phalanx of fin... |
OMIM:249420 |
Simple Cryoglobulinemia |
|
Gastrointestinal hemorrhage, Pericarditis, Membranoproliferative glomerulonephritis, Renal insuff... |
ORPHA:91139 |
Sepsis In Premature Infants |
|
Abnormal bleeding, Tachycardia, Small for gestational age, Edema, Elevated circulating C-reactive... |
ORPHA:90051 |
Myh9-Related Disease |
|
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Renal insufficiency, Proteinuria, Myoc... |
ORPHA:182050 |
Roifman Syndrome |
|
Eczema, Splenomegaly, Recurrent pneumonia, Lymphadenopathy, Recurrent otitis media |
OMIM:616651 |
Scrub Typhus |
|
Anterior uveitis, Skin rash, Splenomegaly, Myocarditis, Lymphadenopathy, Infectious encephalitis |
ORPHA:83317 |
Autoimmune Lymphoproliferative Syndrome |
|
Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Increased circulating IgA level, S... |
OMIM:601859 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Osteopenia, Proportionate short stature, Short toe, Obesity, Cone-shaped epiphyses of the phalang... |
OMIM:619269 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Chronic oral candidiasis, Psoriasiform dermatitis, Eczema, Increased circulating IgE level, Decre... |
OMIM:606367 |
Pleural Mesothelioma |
|
Lymphadenopathy |
ORPHA:50251 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Myositis, Sinusitis, Skin rash, Splenomegaly, Lymphadenopathy, Arthritis, Panniculitis, Increased... |
OMIM:617591 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Joint laxity, Hypoplasia of the ulna, Short stature, Tapered finger, Hip dislocation, Obesity, De... |
OMIM:618395 |
Dyschondrosteosis-Nephritis Syndrome |
|
Radial bowing, Proteinuria, Short stature, Micromelia, Ulnar bowing, Hematuria, Aplasia/Hypoplasi... |
ORPHA:1765 |
Omenn Syndrome |
|
Pneumonia, Splenomegaly, Lymphadenopathy, Hypoplasia of the thymus, Erythroderma, Hypoproteinemia |
OMIM:603554 |
Lowe Oculocerebrorenal Syndrome |
|
Elevated circulating creatine kinase concentration, Bicarbonaturia, Aminoaciduria, Renal Fanconi ... |
OMIM:309000 |
Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Rickets, Abnormal blood ion concentration, Dehydration, Abnormal tubulointerst... |
ORPHA:411629 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu... |
OMIM:613092 |
Familial Osteodysplasia, Anderson Type |
|
Recurrent fractures, Aplastic clavicle, Bifid femur, Increased susceptibility to fractures, Hyper... |
ORPHA:2769 |
Vacterl With Hydrocephalus |
|
Aqueductal stenosis, Hydrocephalus, Spina bifida, Polyhydramnios |
ORPHA:3412 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Epiphyseal stippling, Small for gestational age, Increased body weight |
OMIM:274300 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Skin rash, Pustule, Myocarditis, Hepatitis, Thyroiditis, Lymphadenopathy, Tubulointerstitial neph... |
ORPHA:139402 |
Selective Igm Deficiency |
|
Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Otitis media, R... |
ORPHA:331235 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eczema, Glomerulonephritis, Increased circulating IgE level, Hepatitis, Lymphadenopathy, Arthriti... |
OMIM:304790 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Recurrent intrapulmonary hemorrhage, Transient ischemic atta... |
ORPHA:183 |
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Tapered finger, Generalized joint laxity, Increased body weight, 2-3 toe syndactyly, Clinodactyly... |
ORPHA:589905 |
Immunodeficiency 91 And Hyperinflammation |
|
Membranoproliferative glomerulonephritis, Maculopapular exanthema, Elevated circulating C-reactiv... |
OMIM:619644 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Iliac crest serration, Myocarditis, Metaphyseal chondrodysplasia, Disproportion... |
ORPHA:93317 |
Hypocomplementemic Urticarial Vasculitis |
|
Glomerulopathy, Renal insufficiency, Abnormal heart valve morphology, Proteinuria, Pericardial ef... |
ORPHA:36412 |
Congenital-Onset Steinert Myotonic Dystrophy |
|
Bundle branch block, First degree atrioventricular block, Polyhydramnios, Patent ductus arteriosu... |
ORPHA:589821 |
Bardet-Biedl Syndrome 9 |
|
Syndactyly, Renal insufficiency, Postaxial polydactyly, Postaxial hand polydactyly, Obesity, Post... |
OMIM:615986 |
Camurati-Engelmann Disease |
|
Abnormal morphology of the radius, Metaphyseal dysplasia, Abnormal morphology of ulna, Cachexia, ... |
ORPHA:1328 |
Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Hypertension, Renal tu... |
OMIM:610205 |
Wilson Disease |
|
Decreased circulating ceruloplasmin concentration, Edema, Osteoarthritis, Pedal edema, Aminoacidu... |
OMIM:277900 |
Acquired Generalized Lipodystrophy |
|
Hypertriglyceridemia, Proteinuria, Abnormal cardiovascular system physiology, Unicameral bone cys... |
ORPHA:79086 |
Diabetic Embryopathy |
|
Hydrocephalus, Spinal dysraphism |
ORPHA:1926 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Renal insufficiency, Elevated circulating C-reactive protein concentration, Overwei... |
ORPHA:247353 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Palpebral edema, Edema, Pulmonary embolism, Facial edema, Minimal change glomerulonephritis, Hype... |
ORPHA:567546 |
Trisomy 20P |
|
Umbilical hernia, Spina bifida |
ORPHA:261318 |
Thyroid Lymphoma |
|
Hashimoto thyroiditis, Lymphadenopathy |
ORPHA:97285 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection... |
ORPHA:66529 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Increased circulating IgA level, Increased circulating IgE level, Hepatosplenomegaly, Lymphadenop... |
ORPHA:169154 |
Trisomy 18 |
|
Anencephaly, Holoprosencephaly, Spina bifida, Oligohydramnios |
ORPHA:3380 |
Periodic Fever, Familial, Autosomal Dominant |
|
Myositis, Skin rash, Maculopapular exanthema, Cervical lymphadenopathy, Oligoarthritis, Conjuncti... |
OMIM:142680 |
Pagod Syndrome |
|
Encephalocele, Spina bifida, Sudden cardiac death, Meningocele, Arrhythmia |
ORPHA:991 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo... |
OMIM:115197 |
Congenital Toxoplasmosis |
|
Lymphadenopathy |
ORPHA:858 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Prolonged bleeding following procedure, Nephrocalcinosis, Tubulointerstitial fibrosis... |
ORPHA:79259 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kinase concentrati... |
ORPHA:98855 |
Pediatric Systemic Lupus Erythematosus |
|
Dark urine, Renal insufficiency, Proteinuria, Edema, Pericardial effusion, Raynaud phenomenon, He... |
ORPHA:93552 |
Glycogen Storage Disease Ib |
|
Proteinuria, Short stature, Hyperlipidemia, Osteoporosis, Nephrolithiasis, Gout, Hypertension, Fo... |
OMIM:232220 |
Tatton-Brown-Rahman Syndrome |
|
Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw... |
ORPHA:404443 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Increased circulating IgA level, Peritonitis, Lymphadenopathy, Arthritis, Recurrent aphthous stom... |
ORPHA:343 |
American Trypanosomiasis |
|
Skin rash, Splenomegaly, Myocarditis, Lymphadenopathy, Infectious encephalitis |
ORPHA:3386 |
Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Femur fracture, Growth delay, Osteopetrosis, Hypocalcemic se... |
OMIM:612301 |
Kleefstra Syndrome Due To A Point Mutation |
|
Short stature, Abnormality of the kidney, Large for gestational age, Tapered finger, Vesicoureter... |
ORPHA:261652 |
Mody |
|
Elevated hemoglobin A1c, Abnormality of the kidney, Large for gestational age, Overweight, Obesit... |
ORPHA:552 |
Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Joint laxity, Short stature, Perisylvian polymicrogyria, Flared metaphysis, Advanced ossification... |
OMIM:610442 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestiv... |
ORPHA:276621 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Tachycardia, Tricuspid regurgitation, Proteinuria, Joint stiffness, Heparan sulfate excretion in ... |
ORPHA:505248 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Syndactyly, Failure to thrive, Ketonuria, Large for gestational age, Aminoaciduria, Umbilical her... |
OMIM:614520 |
Hyper-Igd Syndrome |
|
Skin rash, Increased circulating IgA level, Lymphadenitis, Splenomegaly, Hepatosplenomegaly, Lymp... |
OMIM:260920 |
Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kinase concentrati... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kinase concentrati... |
ORPHA:98853 |
Papillorenal Syndrome |
|
Joint laxity, Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Short stature, Edema,... |
OMIM:120330 |
Momo Syndrome |
|
Short stature, Large for gestational age, Obesity, Femoral bowing, Large hands, Overgrowth, Short... |
ORPHA:2563 |
Sotos Syndrome |
|
Joint laxity, Ventricular septal defect, Abnormality of the kidney, Muscular ventricular septal d... |
OMIM:117550 |
Graft Versus Host Disease |
|
Myositis, Fasciitis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Ga... |
ORPHA:39812 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Generalized lymphadenopathy, Partial absence of specific antibody response to Haemophilus influen... |
OMIM:618986 |
Griscelli Syndrome |
|
Splenomegaly, Hepatitis, Lymphadenopathy, Decreased circulating antibody level, Bone marrow hypoc... |
ORPHA:381 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Anuria, Edema, Myocarditis, Hyperkalemia, Oliguria, Hypertension, Pleural empyema, ... |
ORPHA:544482 |
Cinca Syndrome |
|
Elevated circulating C-reactive protein concentration, Splenomegaly, Retrobulbar optic neuritis, ... |
ORPHA:1451 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Myositis, Skin rash, Elevated circulating C-reactive protein concentration, Follicular hyperplasi... |
OMIM:615934 |
Immunodeficiency 54 |
|
Splenomegaly, Lymphadenopathy |
OMIM:609981 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Osteopenia, Mitral valve calcification, Tricuspid regurgitation, Hypertriglyceridemia, Elevated h... |
OMIM:619127 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Dextrocardia, Craniosynostosis, Obesity, Abnormal heart morphology,... |
ORPHA:261197 |
Blue Diaper Syndrome |
|
Hypercalcemia, Increased body weight, Nephrocalcinosis, Blue urine, Hyperphosphatemia |
ORPHA:94086 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Chronic otitis media, Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:3226 |
Cold Agglutinin Disease |
|
Splenomegaly, Lymphadenopathy |
ORPHA:56425 |
Neu-Laxova Syndrome |
|
Spina bifida, Polyhydramnios |
ORPHA:2671 |
Bardet-Biedl Syndrome 3 |
|
Tricuspid regurgitation, Postaxial polydactyly, Obesity, Renal hypoplasia, Brachydactyly |
OMIM:600151 |
Lipodystrophy, Familial Partial, Type 7 |
|
Orthostatic hypotension, Hypertriglyceridemia, Small for gestational age, Hypercholesterolemia, P... |
OMIM:606721 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Bowing of the legs, Knee flexion contracture, Abnormal calcification of the carpal bo... |
OMIM:271665 |
Lumbar Syndrome |
|
Myelomeningocele, Spina bifida |
ORPHA:83628 |
Hallermann-Streiff Syndrome |
|
Hypertension, Pulmonary arterial hypertension, Spina bifida, Telangiectasia |
OMIM:234100 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Short stature, Flexion contracture, Osteoporosis, Increased body weight, Xerostomia, ... |
ORPHA:398069 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Aplasia/Hypoplasia of the thumb, Renal insufficiency, Proteinuria, Tarsal synostosis, Abnormal mo... |
ORPHA:1307 |
Middle Ear Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy |
ORPHA:100084 |
Prader-Willi Syndrome |
|
Osteopenia, Syndactyly, Failure to thrive in infancy, Short stature, Polyhydramnios, Acromicria, ... |
OMIM:176270 |
Triploidy |
|
Hepatomegaly, Abnormality of the gallbladder, Abnormality of the pancreas |
ORPHA:3376 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Ventricular septal defect, Small for gestational age, Polyhydramnios, Large for gestational age, ... |
ORPHA:254534 |
Galloway-Mowat Syndrome |
|
Proteinuria, Camptodactyly of finger, Short stature, Abnormality of neuronal migration, Nephrotic... |
ORPHA:2065 |
Limb Body Wall Complex |
|
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Abnormal spinal cord morphology, An... |
ORPHA:2369 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Tubulointerstitial nephritis, Colitis, Hypoalbuminemia, Psoriasiform dermatitis, Hepati... |
ORPHA:37042 |
Coenzyme Q10 Deficiency, Primary, 6 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ... |
OMIM:614650 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Skin rash, Elevated circulating C-reactive protein concentration, Cervical lymphadenopathy, Recur... |
OMIM:617718 |
Cutaneous Mastocytoma |
|
Maculopapular exanthema, Lymphadenopathy |
ORPHA:79455 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Elevated circulating creatinine concentration,... |
OMIM:235400 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent bacterial skin infections, Osteomyelitis, Discoid lupus rash, Splenomegaly, Lymphadenit... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent bacterial skin infections, Osteomyelitis, Discoid lupus rash, Splenomegaly, Lymphadenit... |
OMIM:233710 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Small for gestational age, Elevated circulating creatine kinase con... |
OMIM:618775 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Proteinuria, Recurrent myoglobinuria, Elevated circulating creatine kinase concentration, Nephrot... |
OMIM:607426 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Bronchiectasis, Lymphadenopathy |
ORPHA:411703 |
Galloway-Mowat Syndrome 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Small for gestational age, Proteinuria, Short s... |
OMIM:251300 |
Cryoglobulinemic Vasculitis |
|
Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Proteinuria, Vasculitis, Hematu... |
ORPHA:91138 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Rickets, Stage 5 chronic kidney disease, Proteinuria |
OMIM:219900 |
Galloway-Mowat Syndrome 10 |
|
Diffuse mesangial sclerosis, Proteinuria, Arachnodactyly, Simplified gyral pattern, Stage 5 chron... |
OMIM:619609 |
Sclerosteosis 1 |
|
Syndactyly, Sclerotic scapulae, 2-3 finger syndactyly, Facial palsy secondary to cranial hyperost... |
OMIM:269500 |
Denys-Drash Syndrome |
|
Proteinuria, Hypertension, Nephrotic syndrome, Nephropathy, Nephroblastoma |
ORPHA:220 |
Glycogen Storage Disease Xii |
|
Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alanine aminotransferase concentration... |
OMIM:611881 |
Omenn Syndrome |
|
Pneumonia, Splenomegaly, Thyroiditis, Lymphadenopathy, Erythroderma |
ORPHA:39041 |
Hellp Syndrome |
|
Pulmonary edema, Proteinuria, Cerebral hemorrhage, Increased body weight, Hemoglobinuria, Prolong... |
ORPHA:244242 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Angina pectoris, Myocardial infarction, Overweight, Hypovolemia, Obesity, G... |
ORPHA:90041 |
Nephronophthisis 13 |
|
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5... |
OMIM:614377 |
Pancreatoblastoma |
|
Elevated maternal serum alpha-fetoprotein, Abnormal lymph node morphology |
ORPHA:677 |
Alport Syndrome 3A, Autosomal Dominant |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... |
OMIM:104200 |
Faciocardiomelic Syndrome |
|
Osteopenia, Large for gestational age, Slender long bone, Polydactyly, Hypoplastic pelvis, Common... |
OMIM:612731 |
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Tapered finger, Patent ductus arteriosus, Abnor... |
ORPHA:86818 |
Legionnaires Disease |
|
Pericarditis, Splenomegaly, Myocarditis, Hepatitis, Endocarditis, Lymphadenopathy, Bone marrow hy... |
ORPHA:549 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Hyperextensibility of the finger joints, Tall stature, Short stature, Recurrent fractures, Long f... |
OMIM:309583 |
Intrahepatic Cholestasis Of Pregnancy |
|
Elevated hepatic transaminase, Abnormality of the pancreas, Jaundice, Cholecystitis |
ORPHA:69665 |
Focal Dermal Hypoplasia |
|
Umbilical hernia, Telangiectasia of the skin, Spina bifida |
ORPHA:2092 |
Peutz-Jeghers Syndrome |
|
Biliary tract neoplasm, Pancreatic adenocarcinoma, Abnormality of the gallbladder |
ORPHA:2869 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula... |
ORPHA:730 |
Mixed Connective Tissue Disease |
|
Myositis, Pericarditis, Skin rash, Gastritis, Splenomegaly, Mediastinal lymphadenopathy, Myocardi... |
ORPHA:809 |
Nail-Patella Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Spina bifida, Glenoid fossa hypoplasia, Sho... |
OMIM:161200 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Joint laxity, Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Metaphyseal widening, ... |
OMIM:250420 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Growth delay, Increased body mass index, Congenital hip dislocation, Increased body weight |
OMIM:614450 |
Monosomy 13Q34 |
|
Epistaxis, Hypercalcemia, Fetal pyelectasis, Postaxial hand polydactyly, Obesity, Hematochezia, P... |
ORPHA:96168 |
Cryoglobulinemia, Familial Mixed |
|
Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Hy... |
OMIM:123550 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent bacterial skin infections, Osteomyelitis, Discoid lupus rash, Splenomegaly, Lymphadenit... |
OMIM:233690 |
Kaposi Sarcoma |
|
Abnormality of the spleen, Generalized lymphadenopathy, Skin rash |
ORPHA:33276 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Osteopenia, Hallux valgus, Hypertriglyceridemia, Arachnodactyly, Sandal gap, Phalangeal dislocati... |
ORPHA:536532 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Broad hallux, Increased body weight, Horseshoe kidney, 2-3 toe syndactyly, Short foot, Micropenis |
OMIM:300860 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Proteinuria, Raynaud phenomenon, Avascular necrosis of the capital f... |
ORPHA:247691 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Abnormal metaphysis morphology, Long fibula, Reduced bone mineral density |
ORPHA:935 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine lev... |
OMIM:171420 |
Waardenburg Syndrome, Type 1 |
|
Myelomeningocele, Spina bifida |
OMIM:193500 |
Gamma-Heavy Chain Disease |
|
Splenomegaly, Skin rash, Rheumatoid arthritis, Lymphadenopathy |
ORPHA:100026 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Fasciitis, Myositis, Pericarditis, Skin rash, Elevated circulating C-reactive protein concentrati... |
ORPHA:32960 |
Proteinuria, Chronic Benign |
|
Albuminuria, Renal insufficiency, Proteinuria |
OMIM:618884 |
Ulnar-Mammary Syndrome |
|
Abnormal morphology of the radius, Hypoplasia of penis, Ventricular septal defect, Camptodactyly ... |
ORPHA:3138 |
Alport Syndrome 2, Autosomal Recessive |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... |
OMIM:203780 |
Castleman Disease |
|
Increased circulating interleukin 6 concentration, Generalized lymphadenopathy, Elevated circulat... |
ORPHA:160 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated circulating creatine kinase concentration, Eczema, Splenomegaly, Lymphadenitis, Lymphade... |
OMIM:615895 |
Isolated Posterior Meningocele |
|
Tethered cord, Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Hydromyelia,... |
ORPHA:268810 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestiv... |
ORPHA:29072 |
Aymé-Gripp Syndrome |
|
Pericarditis, Proteinuria, Rocker bottom foot, Craniosynostosis, Tapered finger, Pericardial effu... |
ORPHA:1272 |
Bardet-Biedl Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Short stature, Postaxial ha... |
ORPHA:110 |
Immunodeficiency 10 |
|
Lymphadenopathy |
OMIM:612783 |
Congenital Analbuminemia |
|
Small for gestational age, Edema, Facial edema, Hyperlipidemia, Obesity, Pedal edema, Increased a... |
ORPHA:86816 |
Cloacal Exstrophy |
|
Myelomeningocele, Spina bifida |
ORPHA:93929 |
Renal Tubular Dysgenesis |
|
Anuria, Abnormality of the urinary system, Hypotension, Renotubular dysgenesis, Oligohydramnios |
OMIM:267430 |
Neu-Laxova Syndrome 1 |
|
Hydranencephaly, Spina bifida, Polyhydramnios, Stillbirth, Short umbilical cord, Small placenta, ... |
OMIM:256520 |
Primary Intestinal Lymphangiectasia |
|
Edema, Pericardial effusion, Weight loss, Growth delay, Hypoalbuminemia, Hypocalcemia, Hypomagnes... |
ORPHA:90362 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Anuria, Patent ductus arteriosus, Megacystis, Pyelonephritis, Bidirectional shunt, Elevated pulmo... |
OMIM:619351 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Chronic otitis media, Splenomegaly, Pneumonia, Lymphadenopathy |
ORPHA:169090 |
Fibular Hemimelia |
|
Spina bifida |
ORPHA:93323 |
Rhabdoid Tumor |
|
Lymphadenopathy |
ORPHA:69077 |
Acquired Hypertrichosis Lanuginosa |
|
Lymphadenopathy |
ORPHA:2221 |
Craniotubular Dysplasia, Ikegawa Type |
|
Metaphyseal dysplasia, Ventricular septal defect, Short stature, Broad femoral neck, Broad ischia... |
OMIM:619727 |
Split Cord Malformation |
|
Tethered cord, Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Hydrocephalus, Meni... |
ORPHA:573278 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened PR interval, Cardiomyopathy,... |
OMIM:261740 |
Griscelli Syndrome Type 2 |
|
Splenomegaly, Lymphadenopathy |
ORPHA:79477 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Proteinuria, Ventricular septal defect, Cerebral hemorrhage, Overlapping toe, Patent ductus arter... |
OMIM:616682 |
22Q11.2 Deletion Syndrome |
|
Gastrointestinal hemorrhage, Polyhydramnios, Spina bifida, Hydrocephalus, Meningocele, Occipital ... |
ORPHA:567 |
Gitelman Syndrome |
|
Urinary incontinence, Decreased urinary potassium, Tubulointerstitial nephritis, Renal Fanconi sy... |
ORPHA:358 |
Xfe Progeroid Syndrome |
|
Failure to thrive, Renal insufficiency, Proteinuria, Severe short stature, Cachexia, Hypertension... |
OMIM:610965 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Tachycardia, Proteinuria, Elevated circulating creatine kinase concentration, Urina... |
ORPHA:94093 |
Nephroblastoma |
|
Lymphadenopathy |
ORPHA:654 |
Thrombocytopenia-Absent Radius Syndrome |
|
Syringomyelia, Edema of the dorsum of feet, Spina bifida, Edema of the dorsum of hands |
OMIM:274000 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,... |
ORPHA:436271 |
Mevalonic Aciduria |
|
Skin rash, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive pr... |
OMIM:610377 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Spinal dysraphism |
OMIM:603546 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Skin rash, Increased circulating ferritin concentration, Splenomegaly, Lymphadenopathy, Hepatospl... |
OMIM:603553 |
Meige Disease |
|
Recurrent skin infections, Lymph node hypoplasia, Recurrent bacterial skin infections, Absence of... |
ORPHA:90186 |
Spondyloenchondrodysplasia |
|
Metaphyseal dysplasia, Proteinuria, Short stature, Bowing of the legs, Raynaud phenomenon, Hypopl... |
ORPHA:1855 |
Common Variable Immunodeficiency |
|
Pneumonia, Splenomegaly, Bronchiectasis, Lymphadenopathy, Decreased circulating antibody level, O... |
ORPHA:1572 |
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Proteinuria, Edema, Raynaud phenomenon, Punctate vasculitis skin les... |
OMIM:192315 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Short stature, Recurrent fractures, Osteoporosis, Obesity, Reduced bone mineral density, Delayed ... |
ORPHA:2235 |
Alg9-Cdg |
|
Hydrops fetalis, Right ventricular dilatation, Abnormal left ventricular outflow tract morphology... |
ORPHA:79328 |
Neurofibromatosis, Type I |
|
Aqueductal stenosis, Hypertension, Hydrocephalus, Spina bifida |
OMIM:162200 |
Aromatase Deficiency |
|
Eunuchoid habitus, Osteopenia, Delayed epiphyseal ossification, Hyperlipidemia, Osteoporosis, Obe... |
ORPHA:91 |
Yellow Fever |
|
Abnormal bleeding, Shock, Renal insufficiency, Anuria, Elevated circulating creatine kinase conce... |
ORPHA:99829 |
Fucosidosis |
|
Hepatomegaly, Abnormality of the gallbladder |
ORPHA:349 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased circulating ferritin concentration, Splenomegaly, Lymphadenopathy, Hypoalbuminemia, Hyp... |
OMIM:267700 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Proteinuria, Postnatal growth retardation, Heart murmur, Multiple bladder diverticula, Atrial sep... |
ORPHA:2728 |
Ulnar Hemimelia |
|
Spinal dysraphism |
ORPHA:93320 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Lymphadenopathy |
ORPHA:424019 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Anuria, Myocardial infarction, Elevated circulating creatinine concentration, Dehyd... |
ORPHA:90038 |
Williams-Beuren Syndrome |
|
Osteopenia, Bicuspid aortic valve, Flexion contracture, Nephrocalcinosis, Atrial septal defect, V... |
OMIM:194050 |
Genitopalatocardiac Syndrome |
|
Abnormal mesentery morphology, Abnormality of the gallbladder |
ORPHA:2075 |
Triosephosphate Isomerase Deficiency |
|
Splenomegaly, Jaundice, Cholecystitis, Prolonged neonatal jaundice, Cholelithiasis |
OMIM:615512 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Tethered cord, Spinal dysraphism |
OMIM:612918 |
Pauci-Immune Glomerulonephritis |
|
Purpura, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal inter... |
ORPHA:93126 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Osteomyelitis, Cardiac shunt, Elevated circulating C-reactive protein concentration, Edema, Pulmo... |
ORPHA:70591 |
Aneurysm Of Sinus Of Valsalva |
|
Aortic regurgitation, Edema, Congestive heart failure, Oliguria, Heart murmur, Bacterial endocard... |
ORPHA:1054 |
Basal Cell Nevus Syndrome 1 |
|
Hydrocephalus, Spina bifida |
OMIM:109400 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Exencephaly |
ORPHA:2211 |
Lassa Fever |
|
Facial edema, Abnormal bleeding, Oliguria, Shock |
ORPHA:99824 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... |
ORPHA:300751 |
Alport Syndrome |
|
Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo... |
ORPHA:63 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tachycardia, Increased body weight |
ORPHA:276608 |
Desmoplastic Small Round Cell Tumor |
|
Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:83469 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Hypertriglyceridemia, Nonimmune hydrops fetalis, Pericardial effusion, Increased circulating ferr... |
OMIM:619313 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Edema, Nephrotic syndrome, Focal segmental glom... |
OMIM:254900 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hypoammonemia, Dehydration, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Hyponatremia, Gl... |
ORPHA:534 |
Granulomatosis With Polyangiitis |
|
Gastrointestinal hemorrhage, Glomerulopathy, Pericarditis, Recurrent intrapulmonary hemorrhage, A... |
ORPHA:900 |
Diffuse Cutaneous Mastocytosis |
|
Abnormality of the spleen, Erythroderma, Lymphadenopathy |
ORPHA:79456 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Increased body weight, Weight loss, Hypertension, Hypokalemia, ... |
ORPHA:1501 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Decreased circulating free fatty acid level, Ketonuria, Large for gestational age, Increased C-pe... |
ORPHA:79644 |
Q Fever |
|
Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Splenomegaly, Myocarditis, Hepat... |
ORPHA:781 |
Autoimmune Lymphoproliferative Syndrome |
|
Uveitis, Increased circulating IgG level, Colitis, Decreased circulating IgG level, Chronic nonin... |
ORPHA:3261 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Polyhydramnios, Large for gestational age, Flexion contracture, Tibial bowing, Hypoplastic iliac ... |
ORPHA:96334 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Stiff neck, Elevated circulating creatine kinase concentration, Abnormal lef... |
ORPHA:99827 |
Cocaine Intoxication |
|
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Elevated circulating creatine kinase c... |
ORPHA:90068 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Sudden cardiac death, Pericardial effusion, Congestive heart failure, Abnormal renal tubular reso... |
ORPHA:73224 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Recurrent otitis media, Panhypogammaglobulinemia, Pneumonia, Absent peripheral lymph nodes in pre... |
OMIM:600802 |
Chops Syndrome |
|
Ventricular septal defect, Short stature, Patent ductus arteriosus, Obesity, Anomalous pulmonary ... |
OMIM:616368 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Iridocyclitis, Knee osteoarthritis, Oligoarthritis, Uveitis, Enthesitis, Lymphadenopathy, Hepatos... |
ORPHA:85408 |
Postinfectious Vasculitis |
|
Abnormal circulating protein concentration, Cerebral vasculitis, Palpable purpura, Membranoprolif... |
ORPHA:48435 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Spina bifida, Intraventricular hemorrhage, Hydrocephalus, Dural ectasia, Cardiomyopathy, Pulmonic... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Spina bifida, Intraventricular hemorrhage, Hydrocephalus, Dural ectasia, Cardiomyopathy, Pulmonic... |
ORPHA:363958 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Aortic regurgitation, Spina bifida |
ORPHA:508498 |
Myhre Syndrome |
|
Hypoplastic iliac wing, Atrial septal defect, Vertebral fusion, Short stature, Pericardial effusi... |
OMIM:139210 |
Acute Generalized Exanthematous Pustulosis |
|
Predominantly dermal neutrophilic infiltrate, Pustule, Cheilitis, Lymphadenopathy, Eosinophilic d... |
ORPHA:293173 |
Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P... |
OMIM:115200 |
Lymphedema-Distichiasis Syndrome |
|
Glomerulopathy, Recurrent urinary tract infections, Predominantly lower limb lymphedema, Proteinu... |
ORPHA:33001 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Sinusitis, Aplasia of the thymus, Pneumonia, Atypical or prolonged hepatitis, Thyroiditis, Lympha... |
ORPHA:83471 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Absence of lymph node germinal center, Chronic mucocutaneous candidiasis, Hepatosplenomegaly, Abn... |
ORPHA:79124 |
Fanconi Anemia |
|
Spina bifida, Hydrocephalus, Umbilical hernia, Hypertrophic cardiomyopathy, Oligohydramnios |
ORPHA:84 |
Immunodeficiency 82 With Systemic Inflammation |
|
Osteomyelitis, Decreased circulating total IgG, Pneumonia, Elevated circulating C-reactive protei... |
OMIM:619381 |
Acute Monoblastic/Monocytic Leukemia |
|
Periorbital edema, Oliguria, Weight loss |
ORPHA:514 |
Renal Agenesis |
|
Renal insufficiency, Renal agenesis, Ventricular septal defect, Proteinuria, Unilateral renal age... |
ORPHA:411709 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Myelofibrosis, Joint laxity, Aortic regurgitation, Duplicated collecting system, Ventricular sept... |
OMIM:607721 |
Aggressive Systemic Mastocytosis |
|
Hypersplenism, Maculopapular exanthema, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:98850 |
Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits... |
ORPHA:449395 |
Campomelic Dysplasia |
|
Hydrocephalus, Spina bifida, Polyhydramnios, Spinal dysraphism |
OMIM:114290 |
Niemann-Pick Disease, Type A |
|
Splenomegaly, Lymphadenopathy |
OMIM:257200 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Osteopenia, Bicuspid aortic valve, Myocardial infarction, Lymphedema, Ectopic kidney, Reduced bon... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Osteopenia, Bicuspid aortic valve, Myocardial infarction, Lymphedema, Ectopic kidney, Reduced bon... |
ORPHA:99228 |
Monosomy X |
|
Osteopenia, Bicuspid aortic valve, Myocardial infarction, Lymphedema, Ectopic kidney, Reduced bon... |
ORPHA:99226 |
Turner Syndrome |
|
Osteopenia, Bicuspid aortic valve, Myocardial infarction, Lymphedema, Ectopic kidney, Reduced bon... |
ORPHA:881 |
Thyrotoxic Periodic Paralysis |
|
Prolonged QT interval, Episodic hypokalemia, Transient hypophosphatemia, Decreased urinary potass... |
ORPHA:79102 |
Frasier Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Hypertension, Focal segmental glomerulosclerosi... |
ORPHA:347 |
Acute Interstitial Pneumonia |
|
Bronchiectasis, Elevated circulating C-reactive protein concentration, Lymphadenopathy |
ORPHA:79126 |
Webb-Dattani Syndrome |
|
Neurogenic bladder, Short stature, Hip dislocation, Obesity, Hyposthenuria, Vesicoureteral reflux... |
OMIM:615926 |
Generalized Arterial Calcification Of Infancy |
|
Edema, Polyhydramnios, Cardiomegaly, Hydrops fetalis, Abnormal calcification of the carpal bones,... |
ORPHA:51608 |
Insulin-Resistance Syndrome Type B |
|
Abnormal circulating lipid concentration, Proteinuria, Abnormality of body weight, Abnormal circu... |
ORPHA:2298 |
Orofaciodigital Syndrome Type 1 |
|
Finger syndactyly, Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, Tarsal synosto... |
ORPHA:2750 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Proteinuria, Hemolytic-uremic syn... |
OMIM:277400 |
Hennekam Syndrome |
|
Finger syndactyly, Mild postnatal growth retardation, Camptodactyly of finger, Craniosynostosis, ... |
ORPHA:2136 |
Holoprosencephaly |
|
Encephalocele, Hydrocephalus, Spinal cord tumor, Spinal dysraphism, Branchial anomaly, Holoprosen... |
ORPHA:2162 |
Cushing Disease |
|
Increased urinary cortisol level, Myocardial infarction, Osteoporosis, Increased body weight, Ped... |
ORPHA:96253 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Myocardia... |
OMIM:618620 |
Jacobsen Syndrome |
|
Aortic valve stenosis, Spina bifida |
ORPHA:2308 |
Congenital Tricuspid Valve Dysplasia |
|
Tricuspid regurgitation, Small for gestational age, Cardiomegaly, Pericardial effusion, Anomalous... |
ORPHA:555874 |
Cockayne Syndrome B |
|
Renal insufficiency, Severe short stature, Small for gestational age, Proteinuria, Postnatal grow... |
OMIM:133540 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Ventricular septal defect, Large for gestational... |
ORPHA:500095 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Skin rash, Eczema, Elevated circulating C-reactive protein concentration, Erythema nodosum, Splen... |
OMIM:615688 |
Exercise-Induced Malignant Hyperthermia |
|
Abnormal bleeding, Prolonged QT interval, Acute kidney injury, Elevated circulating creatine kina... |
ORPHA:466650 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Transient ischemic attack, Proteinuria, Myocardial infarction, Hemolytic-uremic syndrome, Elevate... |
OMIM:274150 |
Kikuchi-Fujimoto Disease |
|
Generalized lymphadenopathy, Skin rash, Elevated circulating C-reactive protein concentration, Pu... |
ORPHA:50918 |
Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Hyponatremia, Renal insufficiency, Recurrent urinary tract infection... |
ORPHA:731 |
Hereditary Hemorrhagic Telangiectasia |
|
Portal hypertension, Cholecystitis, Cirrhosis, Cholelithiasis, Hepatic failure |
ORPHA:774 |
Aregenerative Anemia |
|
Abnormality of interleukin secretion, Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:101096 |
Cardiac-Urogenital Syndrome |
|
Patent urachus, Atrial septal defect, Scimitar anomaly, Micropenis, Mesocardia, Penoscrotal hypos... |
OMIM:618280 |
Brucellosis |
|
Elevated circulating C-reactive protein concentration, Knee osteoarthritis, Increased circulating... |
ORPHA:1304 |
Aspartylglucosaminuria |
|
Aspartylglucosaminuria, Abnormal morphology of ulna, Joint stiffness, Arthritis, Umbilical hernia... |
ORPHA:93 |
Distal Deletion 12Q |
|
Ectopic kidney, Proportionate tall stature, Aplasia/Hypoplasia of the middle phalanx of the 3rd f... |
ORPHA:96149 |
Medullary Thyroid Carcinoma |
|
Lymphadenopathy |
ORPHA:1332 |
Leiomyomatosis, Diffuse, With Alport Syndrome |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Microscopic hematuria... |
OMIM:308940 |
Anaplastic Thyroid Carcinoma |
|
Lymphadenopathy |
ORPHA:142 |
Klatskin Tumor |
|
Lymphadenopathy |
ORPHA:99978 |
Primary Myelofibrosis |
|
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:824 |
Bardet-Biedl Syndrome 20 |
|
Proteinuria, Postaxial polydactyly, Postaxial hand polydactyly, Obesity, 2-3 toe syndactyly, Prea... |
OMIM:619471 |
Vacterl/Vater Association |
|
Abnormality of the pancreas, Abnormality of the gallbladder |
ORPHA:887 |
Joubert Syndrome 39 |
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Occipital encephalocele, Postaxial polydactyly, Overweight, Hypoplastic left heart, Joint contrac... |
OMIM:619562 |
Pheochromocytoma |
|
Tachycardia, Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine lev... |
OMIM:171300 |
Duplication Of Urethra |
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Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... |
ORPHA:237 |
Malt Lymphoma |
|
Mediastinal lymphadenopathy, Posterior uveitis, Lymphadenopathy |
ORPHA:52417 |
Aicardi Syndrome |
|
Spina bifida |
OMIM:304050 |
Rubinstein-Taybi Syndrome 1 |
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Spina bifida occulta, Spina bifida, Polyhydramnios |
OMIM:180849 |
Carpenter Syndrome 2 |
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Preaxial polydactyly, Coxa vara, Knee flexion contracture, Cutaneous finger syndactyly, Clinodact... |
OMIM:614976 |
Sarcoidosis, Susceptibility To, 1 |
|
Pericardial effusion, Bone cyst, Clubbing, Hypercalciuria, Weight loss, Arthritis, Pulmonary arte... |
OMIM:181000 |
Immunodeficiency 55 |
|
Recurrent skin infections, Eczema, Lymphadenopathy |
OMIM:617827 |
Granulomatous Disease, Chronic, X-Linked |
|
Recurrent bacterial skin infections, Osteomyelitis, Discoid lupus rash, Splenomegaly, Lymphadenit... |
OMIM:306400 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemosiderinuria, Renal insufficiency, Proteinuria, Myocardial infarction, Pulmonary embolism, Dec... |
ORPHA:447 |
Cartilage-Hair Hypoplasia |
|
Heart block, Cardiomyopathy, Spinal dysraphism |
ORPHA:175 |
Coccidioidomycosis |
|
Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Erythema nodosum, Abnormality of the spleen, M... |
ORPHA:228123 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Pituitary dwarfism, Overweight, Facial edema, Delayed proximal femoral epiphyseal ossification, G... |
ORPHA:226307 |
Lymphatic Filariasis |
|
Glomerulonephritis, Orchitis, Lymphadenitis, Knee osteoarthritis, Abnormality of the lymphatic sy... |
ORPHA:2035 |
Thymic Neuroendocrine Tumor |
|
Neoplasm of the thymus, Mediastinal lymphadenopathy, Chronic noninfectious lymphadenopathy |
ORPHA:97289 |
Riddle Syndrome |
|
Generalized lymphadenopathy, Pneumonia, Elevated circulating alpha-fetoprotein concentration, Rec... |
ORPHA:420741 |
Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
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Osteopenia, Simplified gyral pattern, Obesity, Pathologic fracture, Moderate albuminuria |
OMIM:614231 |
Alport Syndrome 1, X-Linked |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Thickened glomerular ... |
OMIM:301050 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Tethered cord, Spina bifida |
OMIM:619480 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Bicuspid aortic valve, Vesicoureteral reflux, Atrial septal defect, Joint laxity, Hypospadias, Br... |
ORPHA:353281 |
Multiple Myeloma |
|
Increased circulating IgA level, Splenomegaly, Lymphadenopathy, Decreased circulating antibody le... |
ORPHA:29073 |
Wilson Disease |
|
Increased body weight, Weight loss, Arthritis, Joint swelling, Pathologic fracture, Failure to th... |
ORPHA:905 |
Familial Mediterranean Fever |
|
Pericarditis, Skin rash, Orchitis, Splenomegaly, Osteoarthritis, Peritonitis, Lymphadenopathy, Ar... |
ORPHA:342 |
Ulnar-Mammary Syndrome |
|
Deformed radius, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th... |
OMIM:181450 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Ventricular septal defect, Hypospadias, Short stature, Congestive heart failure, Patent ductus ar... |
ORPHA:444077 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Bicuspid aortic valve, Polyhydramnios, Vesicoureteral reflux, Atrial septal defect, Patent forame... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Bicuspid aortic valve, Polyhydramnios, Vesicoureteral reflux, Atrial septal defect, Patent forame... |
ORPHA:353277 |
Immunodeficiency 31C |
|
Osteomyelitis, Eczema, Splenomegaly, Bronchiectasis, Chronic mucocutaneous candidiasis, Lymphaden... |
OMIM:614162 |
Pearson Syndrome |
|
Renal insufficiency, Small for gestational age, Lacticaciduria, Cardiac conduction abnormality, P... |
ORPHA:699 |
Thauvin-Robinet-Faivre Syndrome |
|
Renal malrotation, Ventricular septal defect, Large for gestational age, Bowing of the legs, Long... |
OMIM:617107 |
Glycogen Storage Disease Ic |
|
Renal insufficiency, Proteinuria, Spider hemangioma, Hyperlipidemia, Gout, Hematuria, Hypertensio... |
OMIM:232240 |
Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Angina pectoris, Renal steatosis, ... |
ORPHA:412 |
Rett Syndrome |
|
Cholecystitis |
ORPHA:778 |
Metachromatic Leukodystrophy, Adult Form |
|
Cholecystitis, Neoplasm of the gallbladder |
ORPHA:309271 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Cholecystitis |
ORPHA:309256 |
Immunoglobulin A Vasculitis |
|
Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Proteinuria, Edema, Angioedema,... |
ORPHA:761 |
Igg4-Related Submandibular Gland Disease |
|
Cholangitis, Increased circulating IgG4 level, Increased circulating IgE level, Lymphadenopathy, ... |
ORPHA:449432 |
Renal Nutcracker Syndrome |
|
Orthostatic hypotension, Tachycardia, Proteinuria, Weight loss, Hematuria, Syncope, Renal artery ... |
ORPHA:71273 |
Behçet Disease |
|
Increased inflammatory response, Myositis, Pericarditis, Acne, Orchitis, Splenomegaly, Retrobulba... |
ORPHA:117 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Nephroblastoma, Polyhydramnios, Elevated circulating alpha-fetoprotein conc... |
ORPHA:116 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Cholecystitis |
ORPHA:309263 |
Vater/Vacterl Association |
|
Occipital encephalocele, Tethered cord, Spina bifida, Patent urachus |
OMIM:192350 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hepatomegaly, Cholelithiasis, Cholecystitis, Hepatosplenomegaly |
OMIM:301066 |
Acute Promyelocytic Leukemia |
|
Stomatitis, Lymphadenopathy |
ORPHA:520 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Viral hepatitis, Liver abscess, Cholangitis, Cholecystitis |
ORPHA:183675 |
Joint Contractures, Osteochondromas, And B-Cell Lymphoma |
|
Generalized lymphadenopathy |
OMIM:620232 |
Renal Cysts And Diabetes Syndrome |
|
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... |
OMIM:137920 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Proteinuria, Chronic kidney disease, Thickened glomerular basement membrane, Proximal renal tubul... |
OMIM:146255 |
Chikungunya |
|
Maculopapular exanthema, Skin rash, Erythema nodosum, Cervical lymphadenopathy, Crusting erythema... |
ORPHA:324625 |
Relapsing Polychondritis |
|
Abnormal endocardium morphology, Glomerulopathy, Pericarditis, Renal insufficiency, Proteinuria, ... |
ORPHA:728 |
Lig4 Syndrome |
|
Lymphadenopathy |
ORPHA:99812 |
Cutaneous Neuroendocrine Carcinoma |
|
Chronic noninfectious lymphadenopathy |
ORPHA:79140 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Episcleritis, Increased circulating interleukin 6 concentration, Increased circulating interleuki... |
OMIM:256040 |
Igg4-Related Ophthalmic Disease |
|
Sinusitis, Cholangitis, Increased circulating IgG4 level, Elevated circulating C-reactive protein... |
ORPHA:449563 |
Insulinoma |
|
Palpitations, Increased body weight |
ORPHA:97279 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Pneumonia, Lymphadenopathy, Recurrent sinusitis, Rheumatoid arthritis, Recurrent otitis media, Ju... |
OMIM:607944 |
Neutral Lipid Storage Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Chronic pancreatitis, Cholecystitis, Hepatic steatosis |
ORPHA:98908 |
Pierson Syndrome |
|
Diffuse mesangial sclerosis, Proteinuria, Edema, Retinal hemorrhage, Stage 5 chronic kidney disea... |
OMIM:609049 |
Kawasaki Disease |
|
Pericarditis, Abnormal heart valve morphology, Proteinuria, Edema, Congestive heart failure, Myoc... |
ORPHA:2331 |
Pallister-Hall Syndrome |
|
Large for gestational age, Ectopic kidney, Atrial septal defect, Micropenis, Atrioventricular can... |
ORPHA:672 |
H Syndrome |
|
Psoriasiform dermatitis, Bronchiectasis, Lymphadenopathy, Hepatosplenomegaly, Chronic rhinitis |
ORPHA:168569 |
Chediak-Higashi Syndrome |
|
Splenomegaly, Recurrent bacterial skin infections, Periodontitis, Lymphadenopathy |
OMIM:214500 |
Otopalatodigital Syndrome, Type Ii |
|
Umbilical hernia, Hydrocephalus, Stillbirth, Spina bifida |
OMIM:304120 |
Farber Disease |
|
Arthritis, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:333 |
Primary Sjögren Syndrome |
|
Myositis, Chronic active hepatitis, Glomerulonephritis, Lymphocytic interstitial pneumonia, Eryth... |
ORPHA:289390 |
Systemic Lupus Erythematosus |
|
Lupus nephritis, Discoid lupus rash, Cheilitis, Lymphadenopathy, Arthritis, Malar rash, Serositis |
ORPHA:536 |
Waldenström Macroglobulinemia |
|
Splenomegaly, Lymphadenopathy, Monoclonal immunoglobulin M proteinemia |
ORPHA:33226 |
Pulmonary Capillary Hemangiomatosis |
|
Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:199241 |
Listeriosis |
|
Liver abscess, Jaundice, Peritonitis, Hepatic granulomatosis, Cholecystitis, Splenic abscess |
ORPHA:533 |
Chédiak-Higashi Syndrome |
|
Recurrent bacterial skin infections, Skin rash, Splenomegaly, Increased circulating ferritin conc... |
ORPHA:167 |
Pmm2-Cdg |
|
Osteopenia, Joint laxity, Pericarditis, Multiple joint contractures, Angina pectoris, Proteinuria... |
ORPHA:79318 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Increased urinary cortisol level, Myocardial infarction, Osteoporosis, Increased body weight, Ped... |
ORPHA:99889 |
Malakoplakia |
|
Inflammatory abnormality of the skin, Skin rash, Follicular hyperplasia, Orchitis, Urinary bladde... |
ORPHA:556 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Episcleritis, Splenomegaly, Cervical lymphadenopathy, Lymphadenopathy, Hepatosplenomegaly |
OMIM:602782 |
Bardet-Biedl Syndrome 12 |
|
Hydroureter, Postaxial hand polydactyly, Obesity, Cystic renal dysplasia, Postaxial foot polydact... |
OMIM:615989 |
Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Generalized lymphadenopathy, Skin rash, Chilblains, Pneumonia, Splenomegaly, ... |
OMIM:615846 |
Blau Syndrome |
|
Pericarditis, Skin rash, Keratitis, Splenomegaly, Retrobulbar optic neuritis, Erythema nodosum, I... |
ORPHA:90340 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Myositis, Increased circulating IgG4 level, Increased circulating IgA level, Thyroiditis, Lymphad... |
ORPHA:79078 |
Carney Triad |
|
Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:139411 |
Exstrophy-Epispadias Complex |
|
Hydrocephalus, Spina bifida |
ORPHA:322 |
Smith-Lemli-Opitz Syndrome |
|
Abnormality of the gallbladder |
ORPHA:818 |
Wolf-Hirschhorn Syndrome |
|
Abnormality of the gallbladder, Abdominal situs inversus |
ORPHA:280 |
Marburg Hemorrhagic Fever |
|
Pericarditis, Maculopapular exanthema, Elevated circulating creatine kinase concentration, Hypera... |
ORPHA:99826 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Splenomegaly, Lymphadenopathy |
ORPHA:98849 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Splenomegaly, Polysplenia, Lymphadenopathy |
OMIM:619418 |
Familial Pancreatic Carcinoma |
|
Lymphadenopathy, Hepatosplenomegaly |
ORPHA:1333 |
Goodpasture Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Macroscopic hematuria, Erythro... |
OMIM:233450 |
Leptospirosis |
|
Pericarditis, Skin rash, Hepatitis, Uveitis, Lymphadenopathy, Hyperproteinemia, Optic neuritis |
ORPHA:509 |
Cherubism |
|
Submandibular lymph node enlargement |
OMIM:118400 |
Plague |
|
Chapped lip, Skin rash, Erythema nodosum, Splenomegaly, Lymphadenitis, Enterocolitis, Endocarditi... |
ORPHA:707 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Increased body weight |
ORPHA:64745 |
Tangier Disease |
|
Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Hepatosplenomegaly |
ORPHA:31150 |
Adenocarcinoma Of The Anal Canal |
|
Lymphadenopathy |
ORPHA:424016 |
Lymphangioleiomyomatosis |
|
Pulmonary lymphangiomyomatosis, Abnormality of the lymphatic system, Lymphadenopathy |
ORPHA:538 |
Sarcoidosis |
|
Maculopapular exanthema, Erythema nodosum, Bronchiectasis, Uveitis, Abnormal lymph node morpholog... |
ORPHA:797 |
Alström Syndrome |
|
Urinary incontinence, Functional abnormality of the bladder, Micropenis, Short stature, Portal hy... |
ORPHA:64 |
Ileal Neuroendocrine Tumor |
|
Lymphadenopathy |
ORPHA:100078 |
African Trypanosomiasis |
|
Pericarditis, Keratitis, Splenomegaly, Myocarditis, Hepatosplenomegaly, Lymphadenopathy, Optic ne... |
ORPHA:3385 |
Carney Complex |
|
Congestive heart failure, Cardiac myxoma, Increased body weight, Hypertension, Abdominal obesity,... |
ORPHA:1359 |