Syndactyly Type 4 |
|
Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot... |
ORPHA:93405 |
Acromesomelic Dysplasia 2C |
|
Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, S... |
OMIM:201250 |
Osebold-Remondini Syndrome |
|
Mesomelia, Short tibia, Short toe, Type A brachydactyly, Radial deviation of finger, Carpal synos... |
OMIM:112910 |
Lethal Faciocardiomelic Dysplasia |
|
Hypoplastic left heart, Short 5th finger, Microretrognathia, Short tibia, Sandal gap, Short thumb... |
ORPHA:1972 |
Acromesomelic Dysplasia 2A |
|
Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula... |
OMIM:200700 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Abnormality of th... |
OMIM:246570 |
Leri-Weill Dyschondrosteosis |
|
Increased carrying angle, Abnormal femoral neck morphology, Short tibia, Radial bowing, Short toe... |
OMIM:127300 |
Acromesomelic Dysplasia, Grebe Type |
|
Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o... |
ORPHA:2098 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Short 4th metacarpal, Limb u... |
OMIM:118651 |
Ghosal Hematodiaphyseal Dysplasia |
|
Abnormal pelvic girdle bone morphology, Abnormal tibia morphology, Abnormal femur morphology, Spl... |
ORPHA:1802 |
Langer Mesomelic Dysplasia |
|
Increased carrying angle, Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shorteni... |
OMIM:249700 |
Fibular Hemimelia |
|
Toe syndactyly, Finger syndactyly, Short tibia, Limited knee flexion/extension, Structural foot d... |
ORPHA:93323 |
Léri-Weill Dyschondrosteosis |
|
Short tibia, Radial bowing, Elbow dislocation, Abnormal tibia morphology, Genu valgum, Patellar a... |
ORPHA:240 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
Acheiropody |
|
Lower limb peromelia, Absent forearm, Short tibia, Absent radius, Fibular aplasia, Absent hand, C... |
OMIM:200500 |
Mesomelic Dysplasia, Savarirayan Type |
|
Short forearm, Short tibia, Abnormal foot morphology, Talipes equinovalgus, Mesomelic leg shorten... |
OMIM:605274 |
Gollop-Wolfgang Complex |
|
Aplasia/Hypoplasia of the tibia, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the ulna, Hand ... |
ORPHA:1986 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Acrocapitofemoral Dysplasia |
|
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... |
OMIM:607778 |
Laurin-Sandrow Syndrome |
|
Patellar aplasia, Broad foot, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius,... |
OMIM:135750 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac... |
OMIM:612576 |
Endove Syndrome, Limb-Only Type |
|
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o... |
OMIM:619217 |
Orofaciodigital Syndrome Type 10 |
|
Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact... |
ORPHA:2756 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Fibular hypoplasia, Hypoplasia of th... |
OMIM:612447 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Absent forearm, Short tibia, Clinodactyly, Oligodactyly, Overlapping toe, Micrognathia, 11 pairs ... |
OMIM:201170 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Ectrodactyly, Preaxial hand polydactyly, Abno... |
ORPHA:3329 |
Hypereosinophilic Syndrome, Idiopathic |
|
Restrictive cardiomyopathy, Endocardial fibrosis, Splenomegaly, Eosinophilia, Hepatomegaly, Myelo... |
OMIM:607685 |
Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe... |
ORPHA:93322 |
Brachydactyly, Type A1, C |
|
Short distal phalanx of finger, Short 1st metacarpal, Short middle phalanx of the 2nd finger, Fib... |
OMIM:615072 |
Hemoglobin H Disease |
|
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia |
OMIM:613978 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism |
OMIM:183350 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Polydactyly |
OMIM:300484 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly |
OMIM:619813 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:604765 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Absent forearm, Patellar aplasia, Short hallux, Absent tibia, Split hand, Aplasia/Hypoplasia of t... |
OMIM:119100 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... |
OMIM:228930 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Eiken Syndrome |
|
Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, High iliac ... |
ORPHA:79106 |
Neonatal Severe Primary Hyperparathyroidism |
|
Hepatomegaly, Abnormal metaphysis morphology, Splenomegaly |
ORPHA:417 |
Blount Disease |
|
Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis... |
ORPHA:2768 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Bifid femur, Aplasia of the ulna, Absent tibia, Split hand, Hand monodactyly, Foot monodactyly |
OMIM:228250 |
Mantle Cell Lymphoma |
|
Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Short tibia, Clinodactyly, Short finger, Micrognathia, Postaxial polydactyly, Han... |
OMIM:258860 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Patellar aplasia, Aplasia/Hypoplasia... |
ORPHA:988 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia |
OMIM:206400 |
Acromesomelic Dysplasia 2B |
|
Deformed tarsal bones, Rhizomelia, Deviation of finger, Talipes equinovalgus, Fibular aplasia, Ma... |
OMIM:228900 |
Tyrosinemia Type 1 |
|
Hepatomegaly, Rickets of the lower limbs, Splenomegaly, Hepatocellular carcinoma |
ORPHA:882 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing, Knee osteoarthritis, Flattened... |
ORPHA:93356 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Immunodeficiency 16 |
|
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly |
OMIM:615593 |
Mesomelic Dysplasia, Savarirayan Type |
|
High iliac wing, Elbow dislocation, Hypoplasia of proximal radius, Fibular aplasia, Glenoid fossa... |
ORPHA:85170 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Splenomegaly |
OMIM:619175 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Persistence of hemoglobin F, Microcytic anemia, Increased HbA2 hemoglobin, Splenomegaly, Erythroc... |
OMIM:603902 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly, Palmoplantar keratoderma, Syndactyly |
OMIM:613576 |
Bent Bone Dysplasia Syndrome 2 |
|
Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic iliac wing, Femoral bowing... |
OMIM:620076 |
Laurin-Sandrow Syndrome |
|
Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand polydactyly, Limb dupl... |
ORPHA:2378 |
Hemoglobin D Disease |
|
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... |
ORPHA:90039 |
Weismann-Netter Syndrome |
|
Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip bone morphology, Abnorm... |
ORPHA:3344 |
Erythroleukemia, Familial, Susceptibility To |
|
Leukemia, Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, ... |
OMIM:133180 |
Adams-Oliver Syndrome 6 |
|
Hepatic fibrosis, Foot oligodactyly, Portal hypertension, Splenomegaly, Truncus arteriosus, Ventr... |
OMIM:616589 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin |
ORPHA:231393 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Erythroid hyperplasia, Reticulocytosis, Splenomegaly, Anemia of inadequate production, Anisocytos... |
OMIM:615631 |
Microphthalmia With Limb Anomalies |
|
Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Postaxial foot polydactyly, Short ... |
ORPHA:1106 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Splenomegaly, Abnormal hemoglobin |
ORPHA:231242 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Short tibia, Micrognathia, Talipes equinovarus, Short hallux, Small thenar eminence, Mesomelic ar... |
OMIM:268305 |
Hyperbilirubinemia, Shunt, Primary |
|
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega... |
OMIM:237800 |
Spondylometaphyseal Dysplasia, Axial |
|
Rhizomelia, Proximal femoral metaphyseal irregularity, Splenomegaly, Narrow greater sciatic notch... |
OMIM:602271 |
Slc35A2-Cdg |
|
Aplasia/hypoplasia involving bones of the extremities, Short tibia, Camptodactyly of finger, Abno... |
ORPHA:356961 |
Infantile Sialic Acid Storage Disease |
|
Abnormal foot morphology, Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocyt... |
OMIM:269920 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Hepatomegaly, Limb undergrowth, Abnormal limb bone morphology, Splenomegaly |
ORPHA:2204 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th... |
ORPHA:444463 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Delayed epiphyseal ossification, Rhizomelia, Small epiphyses, Micrognathia,... |
ORPHA:166016 |
Encephalopathy Due To Prosaposin Deficiency |
|
Hepatomegaly, Splenomegaly |
ORPHA:139406 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Fibular aplasia, Brachydactyly, Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split ... |
OMIM:113310 |
Thrombocytopenia-Absent Radius Syndrome |
|
Broad thumb, Finger syndactyly, Tibial torsion, Tetralogy of Fallot, Absent radius, Fibular aplas... |
ORPHA:3320 |
Atelosteogenesis Type Iii |
|
Hand clenching, Absent humerus, Short tibia, Elbow dislocation, Knee dislocation, Short tubular b... |
ORPHA:56305 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Congenital hip dislocation, Joint contracture of the hand, Cardiomyopath... |
OMIM:300280 |
Stuve-Wiedemann Syndrome 1 |
|
Short tibia, Micrognathia, Metaphyseal rarefaction, Talipes, Bowing of the long bones, Hypoplasti... |
OMIM:601559 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Hepatomegaly, Fetal ascites, Splenomegaly |
OMIM:619462 |
Immunodeficiency 104 |
|
Hepatomegaly, T lymphocytopenia, Splenomegaly, Lymphadenopathy |
OMIM:608971 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Short 5th metacarpal, Spherocytosis, Splenomegaly |
ORPHA:66518 |
Red Cell Phospholipid Defect With Hemolysis |
|
Intermittent jaundice, Splenomegaly, Reticulocytosis |
OMIM:179700 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Elbow dislocation, Abnormal ti... |
ORPHA:2634 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Erlenmeyer flask deformity of the femurs, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia, ... |
OMIM:610539 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin... |
ORPHA:85188 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly |
OMIM:618852 |
Roifman Syndrome |
|
Short toe, Irregular femoral epiphysis, Splenomegaly, Hip contracture, Ventricular septal defect,... |
OMIM:616651 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Abnormal epiphysis morphology, Synostosis of carpal bones, Micromelia, Abnormal tibia morphology,... |
ORPHA:2639 |
Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Bacterial endocarditis, Cholestasis, Ascites, Cardiomegaly, Cardiac myxoma... |
ORPHA:615 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Cardiomegaly, Talipes equinovarus, Short tibia, Short femur |
OMIM:620306 |
Trimethylaminuria |
|
Anemia, Splenomegaly, Neutropenia |
OMIM:602079 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Rhizomelia, Short tibia, Sandal gap, Short humerus, Patent foramen ovale, Short ribs, Talipes equ... |
OMIM:607143 |
Microcephaly-Micromelia Syndrome |
|
Absent thumb, Short tibia, Micromelia, Oligodactyly, Micrognathia, Humeroradial synostosis, Missi... |
OMIM:251230 |
Orofaciodigital Syndrome Ix |
|
Camptodactyly, Hand polydactyly, Toe syndactyly, Short tibia |
OMIM:258865 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septa... |
OMIM:620135 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Cone-shaped epiphysis, Metaphyseal spurs, Preaxial polydactyly, Acetabular spurs, Femoral bowing,... |
OMIM:613091 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Micrognathia, Tal... |
OMIM:609945 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Radial bowing, Micrognathia, Splenomegaly, Tibial bowing, Abnormality of the lower limb, Bowing o... |
ORPHA:3035 |
Joubert Syndrome 33 |
|
Splenomegaly, Syndactyly |
OMIM:617767 |
Acheiropodia |
|
Abnormal epiphysis morphology, Fibular aplasia, Absent hand, Short humerus, Upper limb phocomelia... |
ORPHA:931 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Anemia, Thrombocytopenia, Neutropenia, He... |
OMIM:615285 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Portal vein thrombosis |
OMIM:610293 |
Ophthalmomandibulomelic Dysplasia |
|
Radioulnar dislocation, Lateral humeral condyle aplasia, Radial bowing, Elbow dislocation, Decrea... |
OMIM:164900 |
Faciocardiomelic Dysplasia, Lethal |
|
Short 5th finger, Radial deviation of the hand, Short thumb, Micrognathia, Single transverse palm... |
OMIM:227270 |
Congenital Toxoplasmosis |
|
Ascites, Cardiomegaly, Anemia, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Jaundice |
ORPHA:858 |
Farber Lipogranulomatosis |
|
Osteolysis involving bones of the feet, Splenomegaly, Lipogranulomatosis, Osteolytic defects of t... |
OMIM:228000 |
Sea-Blue Histiocyte Disease |
|
Cirrhosis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis |
OMIM:269600 |
Immunodeficiency 84 |
|
Splenomegaly, B lymphocytopenia |
OMIM:619437 |
Omodysplasia 1 |
|
Rhizomelia, Short tibia, Limited knee flexion/extension, Limited elbow flexion, Micrognathia, Lim... |
OMIM:258315 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Hepatic fibrosis, Hepatic steatosis, Splenomegaly |
OMIM:614480 |
Portal Hypertension, Noncirrhotic, 1 |
|
Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:617068 |
Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy |
ORPHA:66661 |
Splenoportal Vascular Anomalies |
|
Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system |
OMIM:271500 |
Neuraminidase Deficiency |
|
Cardiomyopathy, Ascites, Epiphyseal stippling, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolat... |
OMIM:256550 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
Cantu Syndrome |
|
Congenital hypertrophy of left ventricle, Erlenmeyer flask deformity of the femurs, Broad hallux,... |
OMIM:239850 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Clinodactyly, Hepatosplenomegaly, Joint contracture of the 5th finger, Mitral valve prolapse, Ven... |
OMIM:602782 |
Immunodeficiency 42 |
|
Hepatomegaly, Hypoplasia of the thymus, Splenomegaly |
OMIM:616622 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Cervica... |
OMIM:618534 |
Acromesomelic Dysplasia 3 |
|
Aplasia of the proximal phalanx of the 2nd finger, Widened proximal tibial metaphyses, Short 1st ... |
OMIM:609441 |
Adams-Oliver Syndrome 5 |
|
Hypersplenism, Splenomegaly, Patent foramen ovale, Portal vein thrombosis, Brachydactyly, Right a... |
OMIM:616028 |
Orofaciodigital Syndrome Type 2 |
|
Polysyndactyly of hallux, Finger syndactyly, Short tibia, Complete duplication of hallux phalanx,... |
ORPHA:2751 |
Hemochromatosis, Type 2B |
|
Hepatic fibrosis, Cardiomyopathy, Splenomegaly, Anemia, Cirrhosis, Hepatomegaly |
OMIM:613313 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice |
OMIM:224100 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Delayed epiphyseal ossification, Fibular overgrowth, Micromelia, Short femoral neck, Flared metap... |
OMIM:602557 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Polysyndactyly of hallux, Hepatic fibrosis, Postaxial polysyndactyly of foot, Preaxial hand polyd... |
OMIM:263520 |
Immunodeficiency 27A |
|
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Hypoplasia of the femoral head, Lymphadenopathy, ... |
OMIM:209950 |
Shox-Related Short Stature |
|
Micrognathia, Genu valgum, Ulnar radial head dislocation, Tibial bowing, Lower limb undergrowth, ... |
ORPHA:314795 |
Galactose Epimerase Deficiency |
|
Hepatomegaly, Jaundice, Splenomegaly |
ORPHA:79238 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... |
ORPHA:251380 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatic fibrosis, Cholestasis, Genu valgum, Splenomegaly, Ventricular septal defect, Short ribs, ... |
OMIM:615630 |
Immunodeficiency 69 |
|
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A... |
OMIM:618963 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Splenomegaly, Talipes equinovarus, Hepatomegaly |
OMIM:616719 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, E... |
OMIM:618052 |
Hurler-Scheie Syndrome |
|
Cardiomyopathy, Abnormal heart valve morphology, Splenomegaly, Abnormality of the tonsils, Hepato... |
ORPHA:93476 |
Wolman Disease |
|
Hepatomegaly, Splenomegaly |
OMIM:620151 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Leukemia, Pancytopenia, Splenomegaly, Follicular hyperplasia, Lymphocytosis, Neutropenia, Monocyt... |
OMIM:614470 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Patellar hypoplasia, Preaxial foot polydactyly, Mirror image foot polydactyly, Talipes equinovaru... |
OMIM:119800 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Sandal gap, Ascites, Micrognathia, Splenomegaly, Anemia |
ORPHA:1046 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:86893 |
Mulibrey Nanism |
|
Ascites, Single transverse palmar crease, Cardiomegaly, Absent frontal sinuses, Thickened cortex ... |
OMIM:253250 |
Erythrocytosis, Familial, 8 |
|
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... |
OMIM:222800 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Short tibia, Preaxial polydactyly, Tetralogy of Fallot, Micrognathia, Absent gallbladder, Complet... |
OMIM:617925 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hemophagocytosis, Splenomegaly, Anemia, Lymphadenopathy, Neutropenia, Thrombocytopenia, Hepatomeg... |
OMIM:603552 |
Alpha-Heavy Chain Disease |
|
Ascites, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly |
ORPHA:100025 |
Immunodeficiency 76 |
|
Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia |
OMIM:619164 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Rhizomelia, Metaphyseal cupping, Radial bowing, Flared metaphysis, Small epiphyses, Femoral bowin... |
OMIM:602111 |
Galactosemia Iii |
|
Hepatomegaly, Jaundice, Splenomegaly |
OMIM:230350 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Jaundice, Cholestasis, Splenomegaly |
OMIM:620010 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran... |
OMIM:615513 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Splenomegaly |
OMIM:616452 |
Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Hepatomegaly, Clinodactyly of the 5th finger, Splenomegaly, Prominent fingertip pads |
OMIM:615637 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Hypoplastic scapulae, Short tibia, Thumb contracture, Hypoplastic iliac wing, Hepatosplenomegaly,... |
ORPHA:96334 |
Ciliary Dyskinesia, Primary, 53 |
|
Polysplenia, Abdominal situs inversus, Situs inversus totalis, Patent foramen ovale, Cardiomegaly... |
OMIM:620642 |
Mu-Heavy Chain Disease |
|
Abnormal B cell count, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly |
ORPHA:100024 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Rhizomelia, Microretrognathia, Short tibia, Preaxial polydactyly, Hypoplastic pelvis, Fibular hyp... |
OMIM:616300 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Delayed epiphyseal ossification, Metaphyseal cupping, Micromelia, Wide distal femoral metaphysis,... |
OMIM:613320 |
Femoral-Facial Syndrome |
|
Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Preaxial foot polydactyl... |
ORPHA:1988 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Neonatal cholestatic liver disease, Splenomegaly, Biliary tract abnormality, Cirrhosis, Hepatomeg... |
ORPHA:79301 |
Gray Platelet Syndrome |
|
Splenomegaly, Thrombocytopenia |
ORPHA:721 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Delayed epiphyseal ossification, Bulging epiphyses, Rickets of the lower limbs, Genu valgum, Fibu... |
OMIM:600785 |
Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Splenomegaly, De... |
OMIM:617514 |
Opsismodysplasia |
|
Broad thumb, Abnormal epiphysis morphology, Splenomegaly, Hypoplastic vertebral bodies, Brachydac... |
ORPHA:2746 |
Lethal Congenital Contracture Syndrome 10 |
|
Overlapping fingers, Micrognathia, Femoral bowing, Ventricular septal defect, Cardiomegaly, Talip... |
OMIM:617022 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Cardiomegaly, Hepatomegaly, Macrovesicular hepatic steatosis, Dilated cardiomyopathy |
OMIM:600649 |
Hemochromatosis, Type 2A |
|
Dilated cardiomyopathy, Cardiomyopathy, Splenomegaly, Cirrhosis, Hepatomegaly |
OMIM:602390 |
Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia |
ORPHA:1757 |
Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... |
ORPHA:2133 |
Spherocytosis, Type 5 |
|
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... |
OMIM:612690 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Anemia, Cirrhosis, Elevate... |
OMIM:616860 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia |
ORPHA:231401 |
Follicular Lymphoma |
|
Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology, Lymphadenopathy |
ORPHA:545 |
Sickle Cell Disease |
|
Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg... |
OMIM:603903 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Flared metaphysis, Hypertrophic cardiomyopathy, Decreased fibular diameter, Ascites, Micrognathia... |
OMIM:616897 |
Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Jaundice, Cholestasis, Splenomegaly |
ORPHA:172 |
Immunodeficiency 48 |
|
Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation with phytohemagglutinin, ... |
OMIM:269840 |
Microphthalmia With Limb Anomalies |
|
2-3 toe cutaneous syndactyly, Finger aplasia, Capitate-hamate fusion, Toe syndactyly, Postaxial f... |
OMIM:206920 |
Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
Thrombocythemia 1 |
|
Splenomegaly, Thrombocytosis |
OMIM:187950 |
Gaucher Disease, Type Iiic |
|
Aortic valve calcification, Pancytopenia, Pes cavus, Splenomegaly, Mitral stenosis, Cardiomegaly,... |
OMIM:231005 |
Atelosteogenesis, Type Iii |
|
Rhizomelia, Tombstone-shaped proximal phalanges, Radial bowing, Sandal gap, Knee dislocation, Elb... |
OMIM:108721 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Splenomegaly, Jaundice |
OMIM:619658 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
Attrv30M Amyloidosis |
|
Cardiomegaly, Cardiomyopathy |
ORPHA:85447 |
Isolated Right Ventricular Hypoplasia |
|
Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig... |
ORPHA:439 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly, Splenomegaly |
OMIM:252920 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Abnormal pelvic girdle bone morphology, Trapezoidal distal femoral ... |
OMIM:307800 |
Hemochromatosis, Type 1 |
|
Cardiomyopathy, Ascites, Splenomegaly, Cardiomegaly, Cirrhosis, Hepatomegaly, Hepatocellular carc... |
OMIM:235200 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta... |
OMIM:619849 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Perimembranous ventricular septal defect |
OMIM:619170 |
Cholestasis-Lymphedema Syndrome |
|
Neonatal cholestatic liver disease, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice |
OMIM:214900 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anemia |
OMIM:613101 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal pulmonary valve mo... |
ORPHA:860 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... |
ORPHA:766 |
Congenital Rubella Syndrome |
|
Splenomegaly, Ventricular septal defect, Anemia, Atrial septal defect, Thrombocytopenia, Hepatome... |
ORPHA:290 |
Osteofibrous Dysplasia, Susceptibility To |
|
Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
Infantile Liver Failure Syndrome 3 |
|
Hepatic bridging fibrosis, Abnormality of the epiphysis of the femoral head, Cholestasis, Abnorma... |
OMIM:618641 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Enlarged metaphyses, Micrognathia, Genu valgum, Mitral valve prolapse, Bicuspid aortic valve, Tal... |
OMIM:245600 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... |
ORPHA:75564 |
Thrombocytopenia-Absent Radius Syndrome |
|
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Hepatosplenomegaly, Micrognathi... |
OMIM:274000 |
Grant Syndrome |
|
Micrognathia, Tibial bowing, Down-sloping shoulders |
OMIM:138930 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Portal fibrosis, Splenomegaly, Acholic stools, Hepatomegaly, Jaundice |
OMIM:619868 |
Neurooculocardiogenitourinary Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial septal defect, Abnormality ... |
OMIM:618652 |
Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl... |
ORPHA:2585 |
Lethal Acantholytic Erosive Disorder |
|
Cardiomyopathy, Cardiomegaly, Camptodactyly of toe, 2-3 finger syndactyly, 4-5 finger syndactyly,... |
ORPHA:158687 |
Congenital Pulmonary Lymphangiectasia |
|
Ascites, Splenomegaly, Hepatomegaly, Chylopericardium, Pulmonic stenosis |
ORPHA:2414 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Cholestatic liver disease, Hepatosplenomegaly, Splenomegaly, Prolonged neonatal jaundice, Cirrhos... |
OMIM:616828 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatic fibrosis, Portal fibrosis, Portal hypertension, Splenomegaly, Iron deficiency anemia, Hep... |
OMIM:616278 |
Nephronophthisis 19 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega... |
OMIM:616217 |
Heterotaxy, Visceral, 1, X-Linked |
|
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Bi... |
OMIM:306955 |
Hb Bart'S Hydrops Fetalis |
|
Abnormal hemoglobin, Splenomegaly, Anemia, Hepatomegaly, Pericarditis |
ORPHA:163596 |
Refsum Disease, Classic |
|
Cardiomegaly, Short fourth metatarsal, Pes cavus, Cardiomyopathy |
OMIM:266500 |
Cantú Syndrome |
|
Short distal phalanx of finger, Finger syndactyly, Deep plantar creases, Hypertrophic cardiomyopa... |
ORPHA:1517 |
Timothy Syndrome |
|
Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Cutaneous syn... |
OMIM:601005 |
Beta-Thalassemia |
|
Cholelithiasis, Hepatitis, Microcytic anemia, Hypertrophic cardiomyopathy, Splenomegaly, Abnormal... |
ORPHA:848 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Reticulocytosis, Nonspherocytic h... |
OMIM:235700 |
Osteosclerosis With Ichthyosis And Fractures |
|
Cortical thickening of long bone diaphyses, Femoral bowing, Tibial bowing |
OMIM:166740 |
Eiken Syndrome |
|
Delayed epiphyseal ossification, Broad femoral neck, Clinodactyly, Long hallux, Broad metatarsal,... |
OMIM:600002 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... |
OMIM:616689 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Splenomegaly, Anemia of inadequate pr... |
OMIM:224120 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Cardiomegaly |
OMIM:619064 |
Alpha-1-Antitrypsin Deficiency |
|
Cirrhosis, Splenomegaly, Hepatocellular carcinoma |
OMIM:613490 |
Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Absent circulating B cells |
OMIM:620282 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis |
OMIM:617441 |
Dyggve-Melchior-Clausen Disease |
|
Hypoplastic scapulae, Hypoplasia of the odontoid process, Hypoplastic iliac wing, Genu valgum, Br... |
OMIM:223800 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Finger aplasia, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Microre... |
ORPHA:1788 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... |
OMIM:314050 |
Carnitine Deficiency, Systemic Primary |
|
Cardiomyopathy, Hypertrophic cardiomyopathy, Decreased carnitine level in liver, Endocardial fibr... |
OMIM:212140 |
X-Linked Sideroblastic Anemia |
|
Anemia, Splenomegaly |
ORPHA:75563 |
Pfapa Syndrome |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:42642 |
Congenital Tricuspid Valve Dysplasia |
|
Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ... |
ORPHA:555874 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S... |
OMIM:612840 |
Amyloidosis, Hereditary Systemic 2 |
|
Hepatomegaly, Cholestasis, Splenomegaly |
OMIM:105200 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Ascites... |
OMIM:115197 |
Attrv122I Amyloidosis |
|
Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Lef... |
ORPHA:85451 |
Kaposiform Lymphangiomatosis |
|
Fractures of the long bones, Hepatosplenomegaly, Abnormal femur morphology, Splenomegaly, Lymphan... |
ORPHA:464329 |
Alpha-Thalassemia |
|
Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome... |
ORPHA:846 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8 |
|
Nodular regenerative hyperplasia of liver, Increased mean corpuscular volume, Portal hypertension... |
OMIM:620367 |
Fish-Eye Disease |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:79292 |
Gaucher Disease, Type I |
|
Aortic valve stenosis, Erlenmeyer flask deformity of the femurs, Pancytopenia, Hypersplenism, Spl... |
OMIM:230800 |
Cholestasis-Lymphedema Syndrome |
|
Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,... |
ORPHA:1414 |
Autoimmune Lymphoproliferative Syndrome |
|
Chronic noninfectious lymphadenopathy, Splenomegaly, Follicular hyperplasia, Autoimmune hemolytic... |
OMIM:601859 |
Cryohydrocytosis |
|
Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis |
OMIM:185020 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Jaundice, Cirrhosis, Splenomegaly |
ORPHA:75234 |
Overhydrated Hereditary Stomatocytosis |
|
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... |
ORPHA:3203 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Preaxial hand polydactyly, Upper limb undergrowth, Micrognathia, Complete atrio... |
OMIM:236680 |
Portal Hypertension, Noncirrhotic, 2 |
|
Nodular regenerative hyperplasia of liver, Ascites, Portal hypertension, Splenomegaly, Thrombocyt... |
OMIM:619463 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Abnormal thumb morphology, Mitral valve prolapse, Cardiomegaly, Abnormal a... |
ORPHA:324410 |
Spherocytosis, Type 4 |
|
Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia |
OMIM:612653 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an... |
OMIM:619375 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Intrahepatic cholestasis, Portal fibrosis, Portal inflammation, Ascites, Splenomegaly, Cirrhosis,... |
OMIM:602347 |
Indolent Systemic Mastocytosis |
|
Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Hepatomega... |
ORPHA:98848 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial effusion, Ascites |
OMIM:614702 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Hepatosplenomegaly, Splenomegaly, Hepatic steatosis |
OMIM:612526 |
Orofaciodigital Syndrome X |
|
Finger aplasia, Fibular aplasia, Coalescence of tarsal bones, Preaxial hand polydactyly |
OMIM:165590 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly, Anemia |
OMIM:618838 |
Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... |
ORPHA:521 |
Glycogen Storage Disease Ixb |
|
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content |
OMIM:261750 |
Fixed Subaortic Stenosis |
|
Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep... |
ORPHA:3092 |
Omenn Syndrome |
|
Short toe, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Anemia, Eosinophilia, Lymp... |
ORPHA:39041 |
Spherocytosis, Type 1 |
|
Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia |
OMIM:182900 |
Lymphoproliferative Syndrome 2 |
|
Aplastic anemia, Hemophagocytosis, Ascites, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Lymph... |
OMIM:615122 |
Lymphoproliferative Syndrome 1 |
|
Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ... |
OMIM:613011 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly |
OMIM:618495 |
Saul-Wilson Syndrome |
|
Short distal phalanx of finger, Pseudoepiphyses of the metacarpals, Hypoplasia of the odontoid pr... |
OMIM:618150 |
Sea-Blue Histiocytosis |
|
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy |
ORPHA:158029 |
Spherocytosis, Type 2 |
|
Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia |
OMIM:616649 |
Pseudo-Torch Syndrome 3 |
|
Lymphadenitis, Leukocytosis, Cardiomegaly, Congenital thrombocytopenia, Anemia |
OMIM:618886 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Thin metatarsal cortices, Thin metacarpal cortices, Small hypothenar eminence, Slender long bone,... |
ORPHA:2463 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Pancytopenia, Splenomegaly |
OMIM:614979 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, Neutropenia, B lymphocytopenia, Intermitte... |
OMIM:150550 |
Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... |
OMIM:263300 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Cardiomyopathy, Portal hypertension, Splenomegaly, Abnormal metacarpophalangeal joint morphology,... |
ORPHA:465508 |
Fibrochondrogenesis 1 |
|
Hypoplastic ischia, Hypoplastic scapulae, Small hand, Rhizomelia, Joint contracture of the hand, ... |
OMIM:228520 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Iron deficiency anemia |
ORPHA:99931 |
Elliptocytosis 1 |
|
Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis |
OMIM:611804 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly |
ORPHA:664 |
Immunodeficiency, Common Variable, 1 |
|
Abnormal T cell count, Splenomegaly, Decreased proportion of class-switched memory B cells, Lymph... |
OMIM:607594 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Sideroblastic anemia, Splenomegaly, Anemia, Elevated hepatic iron concentration, Poikilocytosis, ... |
OMIM:615234 |
Atelosteogenesis, Type I |
|
Radial bowing, Elbow dislocation, Fibular aplasia, Micrognathia, Talipes, Talipes equinovarus, Ap... |
OMIM:108720 |
Immunodeficiency 7 |
|
Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia, Hepat... |
OMIM:615387 |
Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Anemia, Splenomegaly, Thrombocytopenia |
OMIM:615085 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, No... |
OMIM:613470 |
Hepatoportal Sclerosis |
|
Nodular regenerative hyperplasia of liver, Periportal fibrosis, Abnormality of the hepatic vascul... |
ORPHA:64743 |
Coronary Arterial Fistula |
|
Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C... |
ORPHA:2041 |
Mucopolysaccharidosis Type 6 |
|
Epiphyseal dysplasia, Abnormal heart valve morphology, Genu valgum, Splenomegaly, Abnormal metaph... |
ORPHA:583 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Cardiomegaly |
OMIM:619051 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Splenomegaly, Chol... |
OMIM:266200 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hepatic fibrosis, Irregular epiphyses, Hypoplastic iliac wing, Pancreatic cysts, Hypoplastic pelv... |
OMIM:208500 |
Griscelli Syndrome Type 2 |
|
Hemophagocytosis, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepatomegaly, Jaundice |
ORPHA:79477 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Cholestasis, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice |
ORPHA:59303 |
Craniosynostosis With Fibular Aplasia |
|
Fibular aplasia, Single transverse palmar crease |
OMIM:218550 |
Sclerosing Cholangitis, Neonatal |
|
Hepatic bridging fibrosis, Portal fibrosis, Biliary cirrhosis, Cholestasis, Ascites, Portal hyper... |
OMIM:617394 |
Harderoporphyria |
|
Splenomegaly, Reticulocytosis, Prolonged neonatal jaundice, Hepatomegaly, Hemolytic anemia |
OMIM:618892 |
Primary Myelofibrosis |
|
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Porta... |
ORPHA:824 |
Refsum Disease |
|
Abnormal epiphysis morphology, Cardiomyopathy, Abnormal foot morphology, Pes cavus, Splenomegaly,... |
ORPHA:773 |
Cold Agglutinin Disease |
|
Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy |
ORPHA:56425 |
Sarcoidosis, Susceptibility To, 2 |
|
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly, Clubbing |
OMIM:612387 |
Transaldolase Deficiency |
|
Hepatic fibrosis, Micronodular cirrhosis, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Patent ... |
OMIM:606003 |
Occipital Horn Syndrome |
|
Cholestasis, Humerus varus, Genu valgum, Pes planus, Abnormal fibula morphology, Short palm, Jaun... |
ORPHA:198 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Proximal muscle weakness in upper limbs, Distal upper limb muscle weakness, Limited knee flexion/... |
ORPHA:268 |
Acro-Renal-Mandibular Syndrome |
|
Hypoplastic scapulae, Finger syndactyly, Rudimentary fibula, Micrognathia, Rudimentary to absent ... |
ORPHA:958 |
Kagami-Ogata Syndrome |
|
Micrognathia, Splenomegaly, Ventricular septal defect, Coxa valga, Limb undergrowth, Atrial septa... |
OMIM:608149 |
Osteopetrosis, Autosomal Dominant 3 |
|
Hepatomegaly, Anemia, Splenomegaly |
OMIM:618107 |
Seckel Syndrome 1 |
|
Ivory epiphyses, Sandal gap, Hypoplasia of proximal radius, Elbow flexion contracture, Cone-shape... |
OMIM:210600 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Periportal fibrosis, Hepatocellular necrosis, Hypertrophic cardiomyopathy, Hepatic steatosis, Car... |
OMIM:201475 |
Omodysplasia 2 |
|
Broad femoral neck, Short 1st metacarpal, Limited elbow flexion, Rhizomelic arm shortening, Micro... |
OMIM:164745 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly, Hepatocel... |
OMIM:601847 |
Myelofibrosis |
|
Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di... |
OMIM:254450 |
Mucolipidosis Ii Alpha/Beta |
|
Bullet-shaped phalanges of the hand, Hypoplastic scapulae, Hypoplasia of the odontoid process, Mi... |
OMIM:252500 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly, Pericarditis |
ORPHA:85414 |
Neonatal Lupus Erythematosus |
|
Dilated cardiomyopathy, Aplastic anemia, Abnormal heart morphology, Pancytopenia, Abnormality of ... |
ORPHA:398124 |
Developmental And Epileptic Encephalopathy 95 |
|
Short distal phalanx of finger, Short fourth metatarsal, Single transverse palmar crease, Cardiom... |
OMIM:618143 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Chronic noninfectious lymphadenopathy, Splenomegaly, Follicular hyperplasia, Autoimmune hemolytic... |
OMIM:603909 |
Aorta Coarctation |
|
Hypoplastic left heart, Tetralogy of Fallot, Cardiomegaly, Bicuspid aortic valve, Perimembranous ... |
ORPHA:1457 |
Beck-Fahrner Syndrome |
|
Cardiomegaly, Pes planus, Hip dysplasia, Ventricular septal defect |
OMIM:618798 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Tapered toe, Dilated cardiomyopathy, Abnormal foot morphology, Elbow flexion contracture, Knee fl... |
OMIM:608836 |
Erythrocytosis, Familial, 1 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red... |
OMIM:133100 |
Acromelic Frontonasal Dysostosis |
|
Short tibia, Patellar hypoplasia, Preaxial hand polydactyly, Preaxial foot polydactyly, Mesomelic... |
OMIM:603671 |
Orofaciodigital Syndrome Vi |
|
Hypoplastic left heart, Toe syndactyly, Clinodactyly, Radial deviation of finger, Preaxial hand p... |
OMIM:277170 |
Dominant Beta-Thalassemia |
|
Hepatic fibrosis, Dilated cardiomyopathy, Reduced hemoglobin A, Extramedullary hematopoiesis, Per... |
ORPHA:231226 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Hepatomegaly, Anemia, Splenomegaly |
OMIM:620296 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate production, Hepatomegaly, J... |
OMIM:612714 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed epiphyseal ossification, Subperiosteal bone resorption, Hypochromic anemia, Cardiomyopath... |
ORPHA:289157 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Aortic valve stenosis, Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrho... |
OMIM:208540 |
Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Prolonged neona... |
OMIM:185000 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Increased RBC distribution width, Persistence of hemoglobin F, Hypertrophic cardiomyopathy, Hepat... |
OMIM:613673 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Cholelithiasis, Hepatitis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, Ret... |
OMIM:194380 |
Immunodeficiency 32B |
|
Impaired oxidative burst, Splenomegaly, Eosinophilia, Anemia, Monocytopenia, Thrombocytopenia, Ne... |
OMIM:226990 |
Cirrhotic Cardiomyopathy |
|
Ascites, Cardiomegaly, Left atrial enlargement, Left ventricular hypertrophy, Cirrhosis, Jaundice... |
ORPHA:57777 |
Cholesteryl Ester Storage Disease |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Periportal fibrosis, Increased hepatic echogenicity,... |
OMIM:278000 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Cardiomegaly, Hepatic steatosis |
ORPHA:42 |
Mogs-Cdg |
|
Hepatosplenomegaly, Overlapping fingers, Cardiomegaly, Left ventricular hypertrophy, Atrial septa... |
ORPHA:79330 |
Wolman Disease |
|
Ascites, Splenomegaly, Anemia, Hepatomegaly, Bone-marrow foam cells |
ORPHA:75233 |
Long-Olsen-Distelmaier Syndrome |
|
Cardiomegaly, Dilated cardiomyopathy, Secundum atrial septal defect, Ventricular septal defect |
OMIM:620609 |
Beta-Thalassemia Major |
|
Hepatic fibrosis, Dilated cardiomyopathy, Reduced hemoglobin A, Extramedullary hematopoiesis, Per... |
ORPHA:231214 |
Gaucher Disease Type 1 |
|
Splenic infarction, Cholelithiasis, Erlenmeyer flask deformity of the femurs, Ascites, Pancytopen... |
ORPHA:77259 |
Osteopetrosis, Autosomal Recessive 4 |
|
Splenomegaly, Reticulocytosis, Anemia, Thrombocytopenia, Hepatomegaly |
OMIM:611490 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Splenomegaly, Autoimmune hemolyti... |
OMIM:301078 |
Mcleod Syndrome |
|
Dilated cardiomyopathy, Cardiomyopathy, Absent Achilles reflex, Acanthocytosis, Splenomegaly, Are... |
OMIM:300842 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Lymph node hypoplasia, Splenom... |
OMIM:602450 |
Mucopolysaccharidosis Type 7 |
|
Hepatitis, Ascites, Abnormal hip bone morphology, Epiphyseal stippling, Splenomegaly, Diaphyseal ... |
ORPHA:584 |
Short-Rib Thoracic Dysplasia 12 |
|
Hypoplastic scapulae, Periportal fibrosis, Short toe, Short finger, Ascites, Bowing of the arm, S... |
OMIM:269860 |
Cousin Syndrome |
|
Hypoplastic scapulae, Rhizomelia, Joint contracture of the hand, Hypoplastic iliac wing, Fibular ... |
OMIM:260660 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatom... |
OMIM:211600 |
Kyphomelic Dysplasia |
|
Radial bowing, Micromelia, Flared metaphysis, Dumbbell-shaped humerus, Micrognathia, Femoral bowi... |
OMIM:211350 |
American Trypanosomiasis |
|
Cardiomyopathy, Splenomegaly, Lymphadenopathy, Myocarditis, Hepatomegaly |
ORPHA:3386 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanx of the hallux, Micrognathia, Ventricular septal defect, Aplasia of ... |
ORPHA:3472 |
Craniofaciofrontodigital Syndrome |
|
Aortic valve stenosis, Abnormal heart valve morphology, Ventricular septal defect, Cardiomegaly, ... |
ORPHA:363705 |
Camurati-Engelmann Disease |
|
Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Abnormal diaphysis morp... |
ORPHA:1328 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly |
OMIM:235555 |
Acrorenal-Mandibular Syndrome |
|
Hypoplastic scapulae, Toe syndactyly, Rudimentary fibula, Elbow flexion contracture, Micrognathia... |
OMIM:200980 |
Mesomelia-Synostoses Syndrome |
|
Mesomelia, Metacarpal synostosis, Tarsometatarsal synostosis, Microretrognathia, Micromelia, Ulna... |
OMIM:600383 |
Gamma-Heavy Chain Disease |
|
Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Anemia, Lymphadenopath... |
ORPHA:100026 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Cardiomyopathy |
OMIM:617713 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Macrodactyly, Sandal gap, Lower limb asymmetry, Splenomegaly |
OMIM:612918 |
Otopalatodigital Syndrome Type 2 |
|
Synostosis of carpal bones, Short thumb, Elbow dislocation, Carpal synostosis, Abnormal heart val... |
ORPHA:90652 |
Gaucher Disease, Perinatal Lethal |
|
Ascites, Hepatosplenomegaly, Micrognathia, Splenomegaly, Cardiomegaly, Anemia, Thrombocytopenia, ... |
OMIM:608013 |
Glycogen Storage Disease Ixc |
|
Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hepatomegaly, Bile duct proliferation |
OMIM:613027 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Acute pancreatitis, Recurrent tonsillitis, Lymphadenitis, Lymphopenia, Hepatosplenomegaly, Impair... |
OMIM:618935 |
Phocomelia, Schinzel Type |
|
Finger aplasia, Radial bowing, Micromelia, Aplasia/Hypoplasia involving the pelvis, Abnormal tibi... |
ORPHA:2879 |
Tafro Syndrome |
|
Ascites, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy, Thrombocytopeni... |
ORPHA:457077 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Leukocytosis, Splenomegaly |
OMIM:618042 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Intrahepatic cholestasis, Giant cell hepatitis, Splenomegaly, Cirrhosis, Acholic stools, Hepatome... |
OMIM:607765 |
Budd-Chiari Syndrome |
|
Ascites, Portal hypertension, Cholecystitis, Splenomegaly, Peritonitis, Cirrhosis, Hepatomegaly, ... |
ORPHA:131 |
Boomerang Dysplasia |
|
Absent radius, Fibular aplasia, Hypoplastic iliac body |
OMIM:112310 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... |
OMIM:300908 |
Dehydrated Hereditary Stomatocytosis |
|
Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog... |
ORPHA:3202 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatitis, Splenomegaly, Ductal bile plugs, ... |
OMIM:613812 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Extramedullary hematopoiesis, Persistence of hemoglobin F, Increased HbA2 hemoglo... |
ORPHA:231222 |
Congenital Disorder Of Glycosylation, Type It |
|
Intrahepatic cholestasis, Dilated cardiomyopathy, Hepatitis, Micrognathia, Hepatic steatosis, Ven... |
OMIM:614921 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Broad thumb, Secundum atrial septal defect, Clinodactyly, Lymphopenia, Hepatosplenomegaly, Leukop... |
OMIM:612541 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Finger swelling, Lymphopenia, Splenomegaly, Anemia, Lymphadenopathy, Thrombocytopenia, Hepatomegaly |
OMIM:617591 |
Omenn Syndrome |
|
Severe B lymphocytopenia, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Lymphaden... |
OMIM:603554 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatocellular necrosis, Hepatosplenomegaly, Leukocytosis, Reticulocytos... |
OMIM:618278 |
Hereditary Spherocytosis |
|
Spontaneous hemolytic crises, Cholelithiasis, Restrictive cardiomyopathy, Increased mean corpuscu... |
ORPHA:822 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly, Autoimmune hemolytic anemia |
OMIM:619183 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Autoimmune hemolytic anemia |
ORPHA:90037 |
Sandhoff Disease |
|
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly |
OMIM:268800 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Anemia, Hemophagocytosis, Pancytopenia, Splenomegaly |
OMIM:618398 |
Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
Acute Panmyelosis With Myelofibrosis |
|
Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye... |
ORPHA:86843 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Cardiomegaly, Hepatic steatosis |
OMIM:255120 |
Naxos Disease |
|
Dilated cardiomyopathy, Palmoplantar keratoderma, Abnormal heart morphology, Right ventricular ca... |
OMIM:601214 |
Fucosidosis |
|
Absent/hypoplastic paranasal sinuses, Splenomegaly, Cardiomegaly, Absent/hypoplastic coccyx, Hepa... |
OMIM:230000 |
Danon Disease |
|
Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Pes cavus, Cardiomegaly... |
OMIM:300257 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Cardiomegaly, Right atrial enlargement |
OMIM:614473 |
Fucosidosis |
|
Hepatomegaly, Abnormality of the gallbladder, Cardiomegaly |
ORPHA:349 |
Truncus Arteriosus |
|
Aplasia/hypoplasia involving bones of the extremities, Abnormal heart morphology, Tetralogy of Fa... |
ORPHA:3384 |
Acromelic Frontonasal Dysplasia |
|
Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Preaxial foot polydactyly, Patellar hypoplasia |
ORPHA:1827 |
Campomelic Dysplasia |
|
Delayed epiphyseal ossification, Hypoplastic scapulae, Hypoplastic cervical vertebrae, Shortening... |
OMIM:114290 |
Complete Atrioventricular Septal Defect |
|
Primum atrial septal defect, Displacement of the papillary muscles, Abnormal cardiac atrium morph... |
ORPHA:1329 |
Cranioectodermal Dysplasia 1 |
|
Malformation of the hepatic ductal plate, Short distal phalanx of finger, Rhizomelia, Hepatic fib... |
OMIM:218330 |
Campomelic Dysplasia |
|
Small abnormally formed scapulae, 11 pairs of ribs, Micrognathia, Femoral bowing, Tibial bowing, ... |
ORPHA:140 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, Ap... |
OMIM:276820 |
Double Outlet Left Ventricle |
|
Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Pulmonary valve atresia, Doubl... |
ORPHA:3427 |
Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
Caroli Disease |
|
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit... |
ORPHA:53035 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Coronary artery stenosis, Cardiomyopathy, Abnormal cardiomyocyte morphology, Abnormality of the s... |
ORPHA:565612 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomegaly, Cardiomyopathy, Increased hepatic glycogen content |
OMIM:619259 |
Schneckenbecken Dysplasia |
|
Hypoplastic ilia, Hypoplastic scapulae, Micromelia, Fibular hypoplasia, Short ribs, Hypoplastic v... |
ORPHA:3144 |
Hereditary Orotic Aciduria |
|
Anemia, Splenomegaly, Hip dysplasia |
ORPHA:30 |
Mucopolysaccharidosis Type 3 |
|
Recurrent tonsillitis, Avascular necrosis of the capital femoral epiphysis, Genu valgum, Adenoidi... |
ORPHA:581 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Cone-shaped epiphysis, Atrioventricular canal defect, Splenomegaly, Short ribs, Postaxial polydac... |
OMIM:617088 |
Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Pancreatitis, Splenomegaly |
OMIM:207750 |
Otopalatodigital Syndrome, Type Ii |
|
Broad thumb, Toe syndactyly, Radial bowing, Rudimentary fibula, Overlapping fingers, Micrognathia... |
OMIM:304120 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hypoplastic scapulae, Finger swelling, Camptodactyly of finger, Clubbing of fingers, Elbow flexio... |
OMIM:256040 |
Singleton-Merten Syndrome 1 |
|
Aortic valve stenosis, Aortic valve calcification, Shallow acetabular fossae, Expanded metatarsal... |
OMIM:182250 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Growth arrest lines, Abnormal pelvic girdle bone morphology, Severe B lymphocytopenia, Lymphopeni... |
OMIM:102700 |
Charge Syndrome |
|
Lymphopenia, Micrognathia, Ventricular septal defect, Overriding aorta, Atrial septal defect, Abs... |
OMIM:214800 |
Glycogen Storage Disease Ii |
|
Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:232300 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardiomyopathy, Ascites, Cardiomegaly, Pe... |
OMIM:261740 |
Amyloidosis, Hereditary Systemic 1 |
|
Cardiomegaly, Cardiomyopathy |
OMIM:105210 |
Hereditary Elliptocytosis |
|
Cholelithiasis, Stomatocytosis, Abnormal erythrocyte morphology, Congenital hemolytic anemia, Spl... |
ORPHA:288 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy |
ORPHA:308552 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Cardiomyopathy, Hepatic steatosis, Cardiomegaly, Hepatic calcification, Abnormal myocardium morph... |
ORPHA:228308 |
Bohring-Opitz Syndrome |
|
Cholelithiasis, Annular pancreas, Micrognathia, Cardiomegaly, Abnormal cardiac septum morphology,... |
ORPHA:97297 |
Gaucher Disease Type 3 |
|
Aortic valve calcification, Abnormal heart valve morphology, Pancytopenia, Splenomegaly, Anemia, ... |
ORPHA:77261 |
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Microretrognathia, Hepatic sinusoidal dilatation, Splenic cyst, Patent foramen ovale, Cardiomegal... |
OMIM:620371 |
Autoinflammatory Disease, Systemic, With Vasculitis |
|
Hepatic fibrosis, Cholestasis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Cardiomegaly, Incr... |
OMIM:620376 |
Ogden Syndrome |
|
Micrognathia, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Jaundice, M... |
OMIM:300855 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Secundum atrial septal defect, Partial atrioventricular canal defect, Ventricular septal defect, ... |
OMIM:620066 |
Abetalipoproteinemia |
|
Hepatic fibrosis, Pes cavus, Acanthocytosis, Hepatic steatosis, Reticulocytosis, Cardiomegaly, Ta... |
ORPHA:14 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Abnormality of the hepatic vasculature, Cardiomegaly, Hepatomegaly, Right atrial enlargement, Atr... |
ORPHA:1677 |
Interatrial Communication |
|
Right ventricular dilatation, Secundum atrial septal defect, Cardiomegaly, Sinus venosus atrial s... |
ORPHA:1478 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Synostosis of the proximal phalanx of the thumb with the 1st metacarpal, Left ventricular noncomp... |
OMIM:300967 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Stomatocytosis, Splenomegaly, Thrombocytopenia, Hemolytic anemia, Increased mean platelet volume |
OMIM:153670 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Hepatomeg... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Hepatomeg... |
OMIM:233710 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatic fibrosis, Cholelithiasis, Portal hypertension, Hepatic steatosis, Splenomegaly, Biliary h... |
ORPHA:567983 |
Absence Of The Pulmonary Artery |
|
Abnormal heart morphology, Tetralogy of Fallot, Patent foramen ovale, Truncus arteriosus, Cardiom... |
ORPHA:980 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:208000 |
Osteopathia Striata With Cranial Sclerosis |
|
Joint contracture of the hand, Fibular aplasia, Micrognathia, Ventricular septal defect, Arachnod... |
OMIM:300373 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Hepatomeg... |
OMIM:233690 |
Hyperlipoproteinemia, Type I |
|
Jaundice, Hepatosplenomegaly, Acute pancreatitis, Splenomegaly |
OMIM:238600 |
Liver Disease, Severe Congenital |
|
Portal inflammation, Dilatation of the ventricular cavity, Micrognathia, Hepatic steatosis, Ventr... |
OMIM:619991 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Cardiomegaly, Bicuspid aortic valve, Pes planus, Arachnodactyly |
ORPHA:91387 |
Orofaciodigital Syndrome Type 4 |
|
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Micromelia, Preaxial hand polydactyly, Campto... |
ORPHA:2753 |
Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Recurrent pancreatitis, Pancreatitis, Splenomegaly |
OMIM:615947 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Broad thumb, Broad foot, Ventricular septal defect, Talipes equinovarus, 2-3 finger syndactyly, H... |
OMIM:312870 |
Congenital Tracheomalacia |
|
Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Atrial s... |
ORPHA:95430 |
Tropical Endomyocardial Fibrosis |
|
Restrictive cardiomyopathy, Endocardial fibrosis, Coronary artery stenosis, Ascites, Right ventri... |
ORPHA:75565 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Cardiomegaly, Micrognathia, Ventricular septal defect |
ORPHA:96191 |
Kinsship Syndrome |
|
Micrognathia, Single transverse palmar crease, Fibular hypoplasia, Polydactyly, Coxa valga, Pes p... |
OMIM:619297 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous... |
ORPHA:99125 |
Beckwith-Wiedemann Syndrome |
|
Pancreatic hyperplasia, Cardiomyopathy, Cardiomegaly, Hepatoblastoma, Hepatomegaly, Enlarged kidney |
OMIM:130650 |
Aicardi-Goutières Syndrome |
|
Neonatal alloimmune thrombocytopenia, Hypertrophic cardiomyopathy, Hepatosplenomegaly, Cardiomega... |
ORPHA:51 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Cardiomegaly, Ventricular septal defect |
ORPHA:137675 |
Williams Syndrome |
|
Micrognathia, Genu valgum, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valv... |
ORPHA:904 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy |
ORPHA:365 |
Beckwith-Wiedemann Syndrome |
|
Visceromegaly, Polycythemia, Abnormal pancreas morphology, Hypertrophic cardiomyopathy, Exocrine ... |
ORPHA:116 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Small hand, Hypoplasia of proximal radius, Abnormal heart morphology, Micrognathia, Patent forame... |
ORPHA:444077 |
Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Ascites, Abnormal hip joint morphology, Abnormality of the knee, Cardiom... |
ORPHA:51608 |