Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Abnormality of the liver, Decreased mean corpuscular volume, Hypochromia, Anemia |
OMIM:206100 |
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive |
|
Hypochromia, Sideroblastic anemia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pyridox... |
OMIM:206000 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Decreased mean corpuscular volume, Hypochromia, Anemia |
OMIM:205950 |
Hemoglobin D Disease |
|
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... |
ORPHA:90039 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Syndactyly Type 4 |
|
Toe syndactyly, 1-5 finger syndactyly, Triphalangeal thumb, Foot polydactyly, Camptodactyly of fi... |
ORPHA:93405 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegal... |
OMIM:616689 |
Diamond-Blackfan Anemia 3 |
|
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F |
OMIM:610629 |
Acromesomelic Dysplasia 2C |
|
Radial bowing, Shortening of all proximal phalanges of the fingers, Distal femoral bowing, Fibula... |
OMIM:201250 |
Acromesomelic Dysplasia 2A |
|
Aplasia/Hypoplasia of the patella, Valgus hand deformity, Pes valgus, Aplasia/Hypoplasia of metat... |
OMIM:200700 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Fibular aplasia, Tibial bowing, Hand oligodactyly, Syndactyly, Foot oligodactyly, Short tibia |
OMIM:246570 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Acute myeloid leukemia, Pancytopenia, Thr... |
OMIM:619041 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short 3rd metacarpal, Epiphyseal stippling, Short long bone, Limb undergrowth, Short 2nd metacarp... |
OMIM:118651 |
Osebold-Remondini Syndrome |
|
Tarsal synostosis, Broad finger, Broad toe, Fibular hypoplasia, Hypoplasia of the radius, Dysplas... |
OMIM:112910 |
Intrinsic Factor Deficiency |
|
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume |
OMIM:261000 |
Elliptocytosis 3 |
|
Pyropoikilocytosis, Chronic hemolytic anemia, Decreased mean corpuscular volume, Intermittent jau... |
OMIM:617948 |
Tibial Torsion, Bilateral Medial |
|
Abnormality of tibia morphology, Tibial torsion, Bowing of the legs |
OMIM:188800 |
Hemoglobin E Disease |
|
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... |
ORPHA:2133 |
Acromesomelic Dysplasia, Grebe Type |
|
Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular hypoplasia,... |
ORPHA:2098 |
Acrocapitofemoral Dysplasia |
|
Short middle phalanx of finger, Genu varum, Dysplasia of the femoral head, Cone-shaped epiphysis ... |
OMIM:607778 |
Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... |
ORPHA:3203 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Pseudoarthrosis, Hypoplasia of the radius, Short tibia |
OMIM:156230 |
Gollop-Wolfgang Complex |
|
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Aplasia/Hypoplasia of the tibia, E... |
ORPHA:1986 |
Pentosuria |
|
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration |
ORPHA:2843 |
Langer Mesomelic Dysplasia |
|
Micrognathia, Radial bowing, Broad ulna, Hypoplasia of the radius, Mesomelia, Hypoplasia of the u... |
OMIM:249700 |
Acheiropody |
|
Fibular aplasia, Aplasia of metacarpal bones, Aplasia of the tarsal bones, Carpal bone aplasia, A... |
OMIM:200500 |
Familial Pseudohyperkalemia |
|
Stomatocytosis, Episodic hemolytic anemia, Reticulocytosis, Increased mean corpuscular volume |
ORPHA:90044 |
Sickle Cell Anemia |
|
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... |
ORPHA:232 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Hypochromia, Anemia, Splenomegaly, Poikilocytosis, Decreased mean corpuscular volume |
OMIM:615234 |
Lethal Faciocardiomelic Dysplasia |
|
Radial club hand, Fibular hypoplasia, Short 5th finger, Hypoplasia of the radius, Sandal gap, Sho... |
ORPHA:1972 |
Dehydrated Hereditary Stomatocytosis |
|
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... |
ORPHA:3202 |
Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume |
OMIM:612563 |
Leri-Weill Dyschondrosteosis |
|
Tibial bowing, Radial bowing, Abnormal metatarsal morphology, Fibular hypoplasia, Dorsal subluxat... |
OMIM:127300 |
Mesomelic Dysplasia, Savarirayan Type |
|
Fibular aplasia, Abnormal foot morphology, Dislocated radial head, Hip dislocation, Talipes equin... |
OMIM:605274 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Lytic defects of humeral diaphysis, Fibular hypoplasia, Hypoplasia of the radius, Mixed sclerosis... |
OMIM:601376 |
Léri-Weill Dyschondrosteosis |
|
Abnormality of the ulna, Genu varum, Dorsal subluxation of ulna, Hypoplasia of the radius, Abnorm... |
ORPHA:240 |
Blount Disease |
|
Tibial bowing, Abnormality of the proximal tibial epiphysis, Abnormality of the knee, Abnormality... |
ORPHA:2768 |
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome |
|
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular duplicati... |
ORPHA:3332 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Hypochromia, Erythroid hyperplasia, Elevated hepatic iron concentration, Anemia, Sp... |
OMIM:616860 |
Fibular Hemimelia |
|
Abnormal lower limb bone morphology, Talipes equinovarus, Hypoplastic acetabulae, Finger syndacty... |
ORPHA:93323 |
Laurin-Sandrow Syndrome |
|
Absent tibia, Triphalangeal thumb, Patellar aplasia, Fibular duplication, Absent radius, Broad fo... |
OMIM:135750 |
Dyschondrosteosis And Nephritis |
|
Radial bowing, Ulnar bowing, Short forearm, Short tibia |
OMIM:127350 |
Oslam Syndrome |
|
Abnormality of neutrophils, Increased mean corpuscular volume |
ORPHA:2760 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Absent thumb, Hypoplasia of the ulna, Short... |
OMIM:612447 |
Bone Marrow Failure Syndrome 6 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Lymphopenia |
OMIM:618849 |
Endove Syndrome, Limb-Only Type |
|
Triangular tibia, Absent proximal finger flexion creases, 3-4 finger syndactyly, Aplasia of the d... |
OMIM:619217 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Foot monodactyly, Bifid femur, Hand monodactyly, Absent tibia, Aplasia of the ulna, Split hand |
OMIM:228250 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion... |
OMIM:603902 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Patellar aplasia, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Abnormality of fib... |
ORPHA:988 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Anemia, Anisocytosis, Poikilocytosis, Abnormal erythrocyte mor... |
ORPHA:98870 |
Orofaciodigital Syndrome Type 10 |
|
Fibular aplasia, Tarsal synostosis, Micrognathia, Mesomelic leg shortening, Polysyndactyly of hal... |
ORPHA:2756 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Short lower limbs, Small epiphyses, Genu varum, Tibial bowing, Knee osteoarthritis, Metaphyseal i... |
ORPHA:93356 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Hand monodactyly, Absent tibia, Patellar aplasia, Split hand, Split foot, Aplasia/Hypoplasia of t... |
OMIM:119100 |
Tibial Hemimelia |
|
Cutaneous finger syndactyly, Aplasia of the 4th metacarpal, Absent tibia, Radial club hand, Talip... |
ORPHA:93322 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Abnormality of femur morphology, Patellar aplasia, Fibular hypoplasia, Finger syndactyly, Split h... |
ORPHA:3329 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Absent tibia, Polydactyly |
OMIM:188740 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Acromesomelic Dysplasia 2B |
|
Fibular aplasia, Deformed tarsal bones, Rhizomelia, Malaligned carpal bone, Fibular hypoplasia, S... |
OMIM:228900 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Polydactyly, Short tibia |
OMIM:300484 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Enlargement of the proximal femoral epiphysis, Short middle phalanx of finger, Genu varum, Irregu... |
OMIM:156500 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Micrognathia, Triphalangeal thumb, Talipes equinovarus, Fibular hypoplasia, Overlapping toe, 11 p... |
OMIM:201170 |
Majeed Syndrome |
|
Erythroid hyperplasia, Hepatosplenomegaly, Microcytic anemia, Decreased mean corpuscular volume, ... |
OMIM:609628 |
Mesomelic Dysplasia, Savarirayan Type |
|
Fibular aplasia, Flared radial metaphysis, Broad tibial metaphyses, Bowing of the long bones, Gle... |
ORPHA:85170 |
Acheiropodia |
|
Fibular aplasia, Abnormality of epiphysis morphology, Aplasia of the ulna, Abnormality of the met... |
ORPHA:931 |
Tibia, Absence Of, With Congenital Deafness |
|
Absent tibia |
OMIM:275230 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of fingers, Talipes equinovarus, Hypoplasia of the radius, Finger syndactyly, ... |
OMIM:228930 |
Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Fibular aplasia, Aplasia/Hypoplasia of the fibula, Short phalanx of finger, Brachydactyly, Split ... |
OMIM:113310 |
Diamond-Blackfan Anemia 6 |
|
Macrocytic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F |
OMIM:612561 |
Delta-Beta-Thalassemia |
|
Microcytic anemia, Anemia, Abnormal hemoglobin |
ORPHA:231237 |
Stuve-Wiedemann Syndrome 1 |
|
Broad ischia, Metaphyseal rarefaction, Thickened cortex of long bones, Contracture of the proxima... |
OMIM:601559 |
Eiken Syndrome |
|
Abnormal acetabulum morphology, Narrow pelvis bone, Metaphyseal irregularity, Epiphyseal dysplasi... |
ORPHA:79106 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anisocytosis, Poikilocytosis, Oval macrocytosis, Anemia of inadequate production |
OMIM:603529 |
Methylcobalamin Deficiency Type Cble |
|
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume, Abnormality of the liver, Panc... |
ORPHA:2169 |
Multiple Epiphyseal Dysplasia With Robin Phenotype |
|
Irregular epiphyses, Micrognathia, Metatarsus adductus, Flat capital femoral epiphysis, Talipes e... |
OMIM:601560 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Talipes equinovarus, Rhizomelia, Short ribs, Hypoplasia of the radius, Sandal gap, Hypocalcemia, ... |
OMIM:607143 |
Osteofibrous Dysplasia, Susceptibility To |
|
Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Micrognathia, Postaxial polydactyly, Short finger, Foot polydactyly, Brachydactyl... |
OMIM:258860 |
Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia |
ORPHA:1757 |
Weismann-Netter Syndrome |
|
Abnormality of tibia morphology, Abnormality of the ulna, Tibial bowing, Fibular bowing, Abnormal... |
ORPHA:3344 |
Beta-Thalassemia Intermedia |
|
Leukocytosis, Hepatomegaly, Hypoparathyroidism, Erythroid hyperplasia, Elevated hepatic iron conc... |
ORPHA:231222 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Exostoses of the ulna, Exostoses of the radius, Deformed humerus, Flared femoral metaphysis, Tibi... |
ORPHA:85188 |
Shwachman-Diamond Syndrome |
|
Chronic neutropenia, Macrocytic anemia, Hepatomegaly, Neutropenia, Normocytic anemia, Leukopenia,... |
ORPHA:811 |
Acromesomelic Dysplasia 3 |
|
Fibular aplasia, Tarsal synostosis, Talipes equinovarus, Short finger, Short phalanx of finger, A... |
OMIM:609441 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Micrognathia, Small epiphyses, Fragmented epiphyses, Rhizomelia, Epiphyseal dysplasia, Delayed ep... |
ORPHA:166016 |
Microcephaly-Micromelia Syndrome |
|
Micrognathia, Talipes equinovarus, Absent radius, Forearm undergrowth, Oligodactyly, Micromelia, ... |
OMIM:251230 |
Ulna And Fibula, Hypoplasia Of |
|
Hypoplasia of the ulna, Fibular hypoplasia |
OMIM:191400 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Reticulocytosis, Hepatosplenomegaly, Hemolytic anemia, Decreased mean corpuscular volume |
OMIM:611590 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Megaloblastic anemia, Increased mean corpuscular volume |
OMIM:277410 |
Short Rib-Polydactyly Syndrome |
|
Abnormal ilium morphology, Short ribs, Syndactyly, Abnormal pelvis bone morphology, Abnormal foot... |
ORPHA:1505 |
Laurin-Sandrow Syndrome |
|
Tarsal synostosis, Toe syndactyly, Absent tibia, Triphalangeal thumb, Talipes, Aplasia/Hypoplasia... |
ORPHA:2378 |
Duodenal Atresia |
|
Abnormality of the pancreas, Annular pancreas |
ORPHA:1203 |
Slc35A2-Cdg |
|
Metatarsus adductus, Increased circulating thyroglobulin level, Talipes equinovarus, Aplasia/hypo... |
ORPHA:356961 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Abnormality of the ulna, Ulnar deviation of finger, Fibular hypoplasia, Synostosis of carpal bone... |
ORPHA:2634 |
Atelosteogenesis Type Iii |
|
Fibular aplasia, Micrognathia, Club-shaped distal femur, Knee dislocation, Distal tapering femur,... |
ORPHA:56305 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Anisopoikilocytosis, Elevated hepatic iron concentration, Anemia, Hepatosplenomegaly, Dysplastic ... |
ORPHA:300298 |
Annular Pancreas |
|
Annular pancreas |
ORPHA:675 |
Pancreas, Annular |
|
Annular pancreas |
OMIM:167750 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anemia, Anisocytosis, Poikilocytosis, Decreased mean corpuscular volume, Elliptocytosis |
OMIM:616959 |
Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume |
OMIM:612562 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Tibial deviation of toes, Talipes equinovarus, Short phalanx of finger, Proximal placement of thu... |
OMIM:268305 |
Metaphyseal Acroscyphodysplasia |
|
Metaphyseal cupping, Genu varum, Tibial bowing, Hypoplasia of the odontoid process, Short finger,... |
OMIM:250215 |
Orofaciodigital Syndrome Ix |
|
Toe syndactyly, Camptodactyly, Short tibia, Hand polydactyly |
OMIM:258865 |
Microphthalmia With Limb Anomalies |
|
Talipes equinovarus, Finger syndactyly, Short long bone, Short tibia, Toe syndactyly, Micrognathi... |
ORPHA:1106 |
Faciocardiomelic Dysplasia, Lethal |
|
Micrognathia, Talipes, Fibular hypoplasia, Short 5th finger, Hypoplasia of the radius, Short thum... |
OMIM:227270 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatomegaly, Hepatocellular necrosis, Anisocytosis, Poikilocytosis, Chronic hemolytic anemia, Re... |
OMIM:618278 |
Dominant Beta-Thalassemia |
|
Hypoparathyroidism, Hypochromic microcytic anemia, Hepatic fibrosis, Hepatocellular carcinoma, Pe... |
ORPHA:231226 |
16Q24.3 Microdeletion Syndrome |
|
Thrombocytopenia, Cryptorchidism, Increased mean corpuscular volume |
ORPHA:261250 |
Beta-Thalassemia Major |
|
Hepatomegaly, Hypoparathyroidism, Anisopoikilocytosis, Hypochromic microcytic anemia, Hepatic fib... |
ORPHA:231214 |
Hydrocephalus With Associated Malformations |
|
Abnormal foot morphology, Micrognathia, Tibial bowing, Short lower limbs, Lower limb undergrowth |
OMIM:236640 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Genu varum, Fibular bowing, Tibial bowing, Bowing of the long bones, Metaphyseal irregularity, De... |
OMIM:600785 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Small epiphyses, Genu varum, Tibial bowing, Radial bowing, Flared iliac wing, Rhizomelia, Ulnar b... |
OMIM:602111 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Absent tibia, Talipes equinovarus, Mirror image foot polydactyly, Patellar hypoplasia, Bilateral ... |
OMIM:119800 |
Blackfan-Diamond Anemia |
|
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Increased mean corpuscu... |
ORPHA:124 |
African Iron Overload |
|
Hepatomegaly, Hepatic fibrosis, Elevated hepatic iron concentration, Hepatocellular carcinoma, Pe... |
ORPHA:139507 |
Grant Syndrome |
|
Down-sloping shoulders, Micrognathia, Tibial bowing |
OMIM:138930 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Genu varum, Phocomelia, Aplasia/Hypoplasia of the thumb, Short 2nd metacarpal, Mesomelic arm shor... |
OMIM:171480 |
Ulnar/Fibular Ray Defect And Brachydactyly |
|
Toe syndactyly, Lower limb asymmetry, Fibular hypoplasia, Postaxial oligodactyly, Unilateral ulna... |
OMIM:608571 |
Refractory Anemia With Excess Blasts |
|
Leukocytosis, Abnormal mean corpuscular volume, Acute myeloid leukemia, Thrombocytopenia, Anemia ... |
ORPHA:86839 |
Caffey Disease |
|
Tibial bowing, Periosteal thickening of long tubular bones, Bowing of the legs |
OMIM:114000 |
Osteosclerosis With Ichthyosis And Fractures |
|
Cortical thickening of long bone diaphyses, Femoral bowing, Tibial bowing |
OMIM:166740 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Absent tibia, Cone-shaped epiphysis, Talipes equinovarus, Postaxial polydactyly, Metaphyseal wide... |
OMIM:613091 |
Shox-Related Short Stature |
|
Micrognathia, Tibial bowing, Lower limb undergrowth, Genu valgum, Short foot, Ulnar radial head d... |
ORPHA:314795 |
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites |
|
Poikilocytosis, Heinz body anemia, Nonspherocytic hemolytic anemia, Elliptocytosis |
OMIM:141700 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Absent tibia, Talipes equinovarus, Short metatarsal, Proximal placement of thumb, Hypoplasia of t... |
OMIM:609945 |
Perlman Syndrome |
|
Abnormal pancreas morphology, Hepatomegaly, Cryptorchidism |
ORPHA:2849 |
Pancreatitis, Hereditary |
|
Exocrine pancreatic insufficiency, Pancreatic calcification, Pancreatic pseudocyst, Pancreatitis |
OMIM:167800 |
Femoral-Facial Syndrome |
|
Micrognathia, Talipes equinovarus, Coxa vara, Hip dysplasia, Abnormality of fibula morphology, Ab... |
ORPHA:1988 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Tibial bowing, Short finger, Metaphyseal widening, Rhizomelia, Metaphyseal irregularity, Hypoplas... |
OMIM:608940 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Tibial bowing, Fibular bowing, Bowing of the legs, Metaphyseal irregularity, Trapezoidal distal f... |
OMIM:307800 |
Omodysplasia 1 |
|
Micrognathia, Rhizomelia, Limited knee flexion/extension, Fibular hypoplasia, Limited knee extens... |
OMIM:258315 |
Pyropoikilocytosis, Hereditary |
|
Hemolytic anemia, Pyropoikilocytosis, Microspherocytosis, Elliptocytosis |
OMIM:266140 |
Thrombocytopenia-Absent Radius Syndrome |
|
Fibular aplasia, Aplasia/hypoplasia of the humerus, Micrognathia, Genu varum, Aplasia/Hypoplasia ... |
ORPHA:3320 |
Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Fibular hypoplasia, Mesomelia, Lateral humeral condyle aplasia, Coxa valga |
OMIM:164900 |
Tropical Pancreatitis |
|
Abnormal pancreatic duct morphology, Pancreatic calcification, Chronic calcifying pancreatitis, P... |
ORPHA:103918 |
Tropical Calcific Pancreatitis |
|
Pancreatic calcification, Chronic pancreatitis, Neoplasm of the pancreas |
OMIM:608189 |
Orofaciodigital Syndrome X |
|
Fibular aplasia, Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly |
OMIM:165590 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Polysyndactyly of hallux, Disproportionate shortening of the tibia, Short ribs, Postaxial polysyn... |
OMIM:263520 |
Martinez-Frias Syndrome |
|
Extrahepatic biliary duct atresia, Pancreatic hypoplasia, Hypoplasia of the gallbladder, Annular ... |
OMIM:601346 |
Orofaciodigital Syndrome Type 2 |
|
Micrognathia, Complete duplication of hallux phalanx, Mesomelic leg shortening, Polysyndactyly of... |
ORPHA:2751 |
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Aplasia/Hypoplasia of the pancreas |
ORPHA:65288 |
Microphthalmia With Limb Anomalies |
|
Toe syndactyly, Tibial bowing, Hand oligodactyly, Talipes equinovarus, Camptodactyly of 2nd-5th f... |
OMIM:206920 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Upper limb undergrowth, Epiphyseal stippling, Prominent calcaneus, Short ribs, Short 1st metacarp... |
ORPHA:96334 |
Mitchell-Riley Syndrome |
|
Pancreatic hypoplasia, Acholic stools, Annular pancreas, Absent gallbladder, Biliary atresia, Cho... |
OMIM:615710 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Micrognathia, Postaxial polydactyly, Fibular hypoplasia, Short ribs, Preaxial polydactyly, Hypopl... |
OMIM:617925 |
Hereditary Chronic Pancreatitis |
|
Leukocytosis, Pancreatic calcification, Recurrent pancreatitis, Jaundice |
ORPHA:676 |
Dyggve-Melchior-Clausen Disease |
|
Genu varum, Talipes equinovarus, Short metatarsal, Prominent calcaneus, Pes planus, Rhizomelic ar... |
OMIM:223800 |
Pancreatic Agenesis 2 |
|
Pancreatic hypoplasia |
OMIM:615935 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Hepatic fibrosis, Asplenia, Pancreatic cysts, Bile duct proliferation, Hepatic cyst... |
OMIM:208540 |
Brachymesomelia-Renal Syndrome |
|
Micrognathia, Mesomelic arm shortening, Ulnar bowing, Fibular hypoplasia, Hypoplasia of the radius |
OMIM:113470 |
Campomelia, Cumming Type |
|
Polysplenia, Pancreatic cysts, Polycystic liver disease |
OMIM:211890 |
Tibia, Absence Or Hypoplasia Of, With Polydactyly, Retrocerebellar Arachnoid Cyst, And Other Anomalies |
|
Radial bowing, Talipes equinovarus, Postaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, ... |
OMIM:601027 |
Eiken Syndrome |
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Broad metatarsal, Broad femoral neck, Delayed tarsal ossification, Short middle phalanx of finger... |
OMIM:600002 |
Craniosynostosis With Fibular Aplasia |
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Fibular aplasia |
OMIM:218550 |
Pearson Marrow-Pancreas Syndrome |
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Pancreatic fibrosis, Refractory sideroblastic anemia |
OMIM:557000 |
Pancreatic Agenesis 1 |
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Exocrine pancreatic insufficiency, Pancreatic hypoplasia |
OMIM:260370 |
Acrofacial Dysostosis, RodrÃguez Type |
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Hand oligodactyly, Talipes equinovarus, Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Fin... |
ORPHA:1788 |
Atelosteogenesis, Type I |
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Distal tapering femur, Talipes equinovarus, Short metatarsal, 11 pairs of ribs, Short humerus, Cl... |
OMIM:108720 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
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Micrognathia, Tibial bowing, Radial bowing, Abnormality of the lower limb, Lower limb undergrowth... |
ORPHA:3035 |
Matthew-Wood Syndrome |
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Aplasia/Hypoplasia of the pancreas, Annular pancreas, Cryptorchidism, Abnormal spleen morphology |
ORPHA:2470 |
Otopalatodigital Syndrome, Type Ii |
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Nonossified fifth metatarsal, Short metatarsal, Short ribs, Broad hallux, Bulbous tips of toes, F... |
OMIM:304120 |
Shwachman-Diamond Syndrome 2 |
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Hepatomegaly, Normocytic anemia, Neutropenia, Hyperechogenic pancreas, Thrombocytopenia, Exocrine... |
OMIM:617941 |
Boomerang Dysplasia |
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Fibular aplasia, Hypoplastic iliac body, Absent radius |
OMIM:112310 |
Kyphomelic Dysplasia |
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Micrognathia, Tibial bowing, Radial bowing, Talipes equinovarus, Bowed humerus, Ulnar bowing, Fla... |
OMIM:211350 |
Aceruloplasminemia |
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Abnormal pancreas morphology, Refractory anemia, Hypochromic microcytic anemia, Elevated hepatic ... |
ORPHA:48818 |
Acro-Renal-Mandibular Syndrome |
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Micrognathia, Hypoplastic scapulae, Hypoplasia of the radius, Finger syndactyly, Split hand, Hip ... |
ORPHA:958 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
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Pulmonary insufficiency, Irregular epiphyses, Early ossification of capital femoral epiphyses, Hy... |
OMIM:208500 |
Fibrochondrogenesis 1 |
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Broad ischia, Broad long bones, Hypoplastic scapulae, Posterior vertebral hypoplasia, Rhizomelia,... |
OMIM:228520 |
Castleman Disease |
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Thrombocytopenia, Decreased mean corpuscular volume, Anemia, Jaundice |
ORPHA:160 |
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome |
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Tibial bowing, Fibular bowing, Metaphyseal chondrodysplasia, Femoral bowing, Aplasia/Hypoplasia o... |
ORPHA:85165 |
Cousin Syndrome |
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Fibular aplasia, Toe syndactyly, 2-3 toe syndactyly, Micrognathia, 4-5 toe syndactyly, Talipes eq... |
OMIM:260660 |
Eisenmenger Syndrome |
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Hepatomegaly, Increased mean corpuscular volume, Hypochromic microcytic anemia, Iron deficiency a... |
ORPHA:97214 |
Phocomelia, Schinzel Type |
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Fibular aplasia, Micrognathia, Radial bowing, Hand oligodactyly, Talipes, Aplasia of the ulna, Bo... |
ORPHA:2879 |
Igg4-Related Thyroid Disease |
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Goiter, Retroperitoneal fibrosis, Nodular goiter, Abnormality of the pituitary gland, Euthyroid g... |
ORPHA:64744 |
Occipital Horn Syndrome |
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Aplasia/hypoplasia of the humerus, Absent tibia, Humerus varus, Avascular necrosis of the capital... |
ORPHA:198 |
Nephronophthisis 13 |
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Hepatic cysts, Pancreatic cysts |
OMIM:614377 |
Campomelic Dysplasia |
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Shortening of all phalanges of the toes, Micrognathia, Shortening of all phalanges of fingers, Ta... |
OMIM:114290 |
Senior-Loken Syndrome 8 |
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Hepatic cysts, Pancreatic cysts |
OMIM:616307 |
Thrombocytopenia-Absent Radius Syndrome |
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Genu varum, Talipes equinovarus, Phocomelia, Bilateral radial aplasia, Finger syndactyly, Short p... |
OMIM:274000 |
Schneckenbecken Dysplasia |
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Diaphyseal thickening, Hypoplastic scapulae, Fibular hypoplasia, Short ribs, Abnormality of the m... |
ORPHA:3144 |
Igg4-Related Submandibular Gland Disease |
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Abnormal salivary gland morphology, Cholangitis, Abnormal pancreas morphology, Retroperitoneal fi... |
ORPHA:449432 |
Campomelic Dysplasia |
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Micrognathia, Tibial bowing, Small abnormally formed scapulae, Talipes equinovarus, Bowing of the... |
ORPHA:140 |
Acrorenal-Mandibular Syndrome |
|
Toe syndactyly, Micrognathia, Hypoplastic scapulae, Missing ribs, Hypoplasia of the radius, Split... |
OMIM:200980 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
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Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Hyperechogenic pancreas, Abnormal liver parench... |
ORPHA:456312 |
Feingold Syndrome |
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Abnormality of the spleen, Annular pancreas |
ORPHA:1305 |
Hydrolethalus Syndrome 1 |
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Upper limb undergrowth, Micrognathia, Talipes equinovarus, Duplication of phalanx of hallux, Post... |
OMIM:236680 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
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Aplasia/Hypoplasia of the phalanges of the toes, Aplasia/hypoplasia of the extremities, Phocomeli... |
OMIM:276820 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
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Hepatomegaly, Pancreatic cysts, Hepatic cysts, Splenomegaly, Portal hypertension, Periportal fibr... |
OMIM:263200 |
Acromelic Frontonasal Dysplasia |
|
Preaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Patellar hypoplasia |
ORPHA:1827 |
Fanconi Anemia, Complementation Group D2 |
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Neutropenia, Annular pancreas, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopeni... |
OMIM:227646 |
Pearson Syndrome |
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Hepatomegaly, Hypoparathyroidism, Neutropenia, Macronodular cirrhosis, Decreased response to grow... |
ORPHA:699 |
Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Pancreatic fibrosis, Polysplenia, Hepatic fibrosis |
OMIM:200995 |
Von Hippel-Lindau Syndrome |
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Pancreatic cysts, Polycythemia, Neoplasm of the pancreas, Abnormality of the liver, Pheochromocytoma |
OMIM:193300 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
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Hepatomegaly, Pancreatic hypoplasia, Hepatic fibrosis, Pancreatic cysts, Splenic cyst, Hepatitis,... |
OMIM:610199 |
Meckel Syndrome, Type 7 |
|
Pancreatic cysts, Bile duct proliferation, Hepatosplenomegaly, Cholestasis, Biliary cirrhosis, Po... |
OMIM:267010 |
Bohring-Opitz Syndrome |
|
Hyperechogenic pancreas, Supernumerary nipple |
OMIM:605039 |
Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Asplenia, Annular pancreas |
ORPHA:210122 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
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Hepatic steatosis, Pancreatic fibrosis, Hepatomegaly, Hepatic fibrosis |
OMIM:616263 |
Cranioectodermal Dysplasia 1 |
|
Triphalangeal hallux, Rhizomelia, Broad toe, Fibular hypoplasia, Short ribs, Clinodactyly, Hypoca... |
OMIM:218330 |
Atelosteogenesis Type I |
|
Abnormal pancreatic duct morphology |
ORPHA:1190 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Annular pancreas |
OMIM:618162 |
Feingold Syndrome 1 |
|
Accessory spleen, Polysplenia, Asplenia, Annular pancreas |
OMIM:164280 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Pancreatic fibrosis |
OMIM:615503 |
Meckel Syndrome |
|
Pancreatic cysts, Asplenia, Congenital hepatic fibrosis, Accessory spleen, Cryptorchidism, Cystic... |
ORPHA:564 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Polycythemia, Hepatoblastoma, Splenomegaly, Pseudohypoparathyroidism, Abnormal panc... |
ORPHA:116 |
Camptodactyly Syndrome, Guadalajara, Type I |
|
Hallux valgus, Toe syndactyly, Tubular metacarpal bones, Absent ethmoidal sinuses, Camptodactyly ... |
OMIM:211910 |
Jacobsen Syndrome |
|
Thrombocytopenia, Cryptorchidism, Annular pancreas |
OMIM:147791 |
Orofaciodigital Syndrome Type 4 |
|
Micrognathia, Genu varum, Finger syndactyly, Split hand, Postaxial hand polydactyly, Camptodactyl... |
ORPHA:2753 |
Charge Syndrome |
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Bifid femur, Micrognathia, Absent tibia, Hand monodactyly, Hypocalcemia, Absent radius, Pulmonic ... |
OMIM:214800 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
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Abnormality of endocrine pancreas physiology, Aplasia/Hypoplasia of the pancreas, Abnormality of ... |
ORPHA:93111 |
Autosomal Recessive Polycystic Kidney Disease |
|
Abnormality of the intrahepatic bile duct, Cholangitis, Cholangiocarcinoma, Hepatic fibrosis, Pan... |
ORPHA:731 |
Osteopathia Striata With Cranial Sclerosis |
|
Fibular aplasia, Micrognathia, Flexion contracture of toe, Talipes equinovarus, Osteopathia stria... |
OMIM:300373 |
Jacobsen Syndrome |
|
Thrombocytopenia, Cryptorchidism, Annular pancreas |
ORPHA:2308 |
Nephronophthisis-Like Nephropathy 1 |
|
Chronic pancreatitis, Pancreatic cysts |
OMIM:613159 |
Distal Monosomy 12Q |
|
Pituitary adenoma, Unilateral cryptorchidism, Biliary atresia, Annular pancreas |
ORPHA:96149 |
Trisomy 8P |
|
Aplasia/Hypoplasia of the gallbladder, Cryptorchidism, Annular pancreas |
ORPHA:264450 |
Rothmund-Thomson Syndrome, Type 2 |
|
Cryptorchidism, Annular pancreas |
OMIM:268400 |
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Annular pancreas |
ORPHA:488642 |
Bohring-Opitz Syndrome |
|
Cholelithiasis, Annular pancreas |
ORPHA:97297 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Cryptorchidism, Annular pancreas |
OMIM:616975 |
Schinzel-Giedion Syndrome |
|
Myeloid leukemia, Hepatoblastoma, Streak ovary, Annular pancreas |
ORPHA:798 |
Fryns Syndrome |
|
Ectopic pancreatic tissue, Cryptorchidism, Polysplenia |
OMIM:229850 |
1P36 Deletion Syndrome |
|
Abnormality of the spleen, Annular pancreas, Abnormality of the liver, Hepatic steatosis, Cryptor... |
ORPHA:1606 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Asplenia, Annular pancreas |
OMIM:265380 |