Atr-16 syndrome |
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Abnormal erythrocyte morphology |
DECIPHER:65 |
Methemoglobin Reductase Deficiency |
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Abnormal erythrocyte morphology |
OMIM:250700 |
Diamond-Blackfan Anemia 19 |
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Anemia, Steroid-responsive anemia, Erythroid hypoplasia |
OMIM:618312 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
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Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Heinz Body Anemias |
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Heinz bodies, Heinz body anemia, Nonspherocytic hemolytic anemia |
OMIM:140700 |
Hemoglobin D Disease |
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Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... |
ORPHA:90039 |
Diamond-Blackfan Anemia 3 |
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Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F |
OMIM:610629 |
Dehydrated Hereditary Stomatocytosis 2 |
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Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegaly, Increased m... |
OMIM:616689 |
Glomerulopathy With Fibronectin Deposits 1 |
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Hypertension, Nephrotic syndrome, Stage 5 chronic kidney disease, Microscopic hematuria, Proteinu... |
OMIM:137950 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
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Neutropenia, Increased mean corpuscular volume, Anemia, Acute myeloid leukemia, Pancytopenia, Thr... |
OMIM:619041 |
Iga Nephropathy, Susceptibility To, 3 |
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Hypertension, IgA deposition in the glomerulus, Hematuria, Stage 5 chronic kidney disease, Mesang... |
OMIM:616818 |
Nail-Patella-Like Renal Disease |
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Hypertension, Microscopic hematuria, Glomerulopathy, Proteinuria, Renal insufficiency |
ORPHA:2613 |
Iga Nephropathy, Susceptibility To, 2 |
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Hypertension, IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney dise... |
OMIM:613944 |
Focal Segmental Glomerulosclerosis 2 |
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Hypertension, Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney dise... |
OMIM:603965 |
Intrinsic Factor Deficiency |
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Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume |
OMIM:261000 |
Glomerulopathy With Fibronectin Deposits 2 |
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Hypertension, Nephrotic syndrome, Renal cell carcinoma, Stage 5 chronic kidney disease, Microscop... |
OMIM:601894 |
Renal Failure, Progressive, With Hypertension |
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Hypertension, Nephritis, Stage 5 chronic kidney disease, Microscopic hematuria, Proteinuria, Rena... |
OMIM:161900 |
Focal Segmental Glomerulosclerosis 5 |
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Hypertension, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Microscopic hem... |
OMIM:613237 |
Oslam Syndrome |
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Clinodactyly of the 5th finger, Abnormality of neutrophils, Increased mean corpuscular volume, Ra... |
ORPHA:2760 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
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Hypertension, Focal segmental glomerulosclerosis, Hematuria, Proteinuria, Renal insufficiency |
OMIM:607832 |
Delta-Beta-Thalassemia |
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Microcytic anemia, Anemia, Abnormal hemoglobin |
ORPHA:231237 |
Familial Pseudohyperkalemia |
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Stomatocytosis, Episodic hemolytic anemia, Reticulocytosis, Increased mean corpuscular volume |
ORPHA:90044 |
Beta-Thalassemia, Dominant Inclusion Body Type |
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Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion bodies, Decre... |
OMIM:603902 |
Moyamoya Disease 1 |
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Telangiectasia, Inflammatory arteriopathy |
OMIM:252350 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
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Anisocytosis, Poikilocytosis, Oval macrocytosis, Anemia of inadequate production |
OMIM:603529 |
Hemoglobin C-Beta-Thalassemia Syndrome |
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Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Iga Nephropathy, Susceptibility To, 1 |
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Hypertension, IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney dise... |
OMIM:161950 |
Long Qt Syndrome 13 |
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Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... |
OMIM:613485 |
Arterial Calcification, Generalized, Of Infancy, 2 |
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Hypertension, Nephrocalcinosis, Coronary artery calcification, Myocardial infarction, Congestive ... |
OMIM:614473 |
Sickle Cell Anemia |
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Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... |
ORPHA:232 |
Diamond-Blackfan Anemia 8 |
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Macrocytic anemia, Neutropenia, Increased mean corpuscular volume |
OMIM:612563 |
Capillary Malformation-Arteriovenous Malformation 2 |
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Telangiectasia |
OMIM:618196 |
Dehydrated Hereditary Stomatocytosis |
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Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... |
ORPHA:3202 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
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Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration |
OMIM:102900 |
Bone Marrow Failure Syndrome 6 |
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Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Lymphopenia |
OMIM:618849 |
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites |
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Poikilocytosis, Heinz body anemia, Nonspherocytic hemolytic anemia, Elliptocytosis |
OMIM:141700 |
Pulmonary Hypertension, Primary, 1 |
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Right ventricular failure, Telangiectasia, Hypertension, Pulmonary artery vasoconstriction, Pulmo... |
OMIM:178600 |
Adenine Phosphoribosyltransferase Deficiency |
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Macroscopic hematuria, Hypertension, Atrial fibrillation, Urinary retention, Urinary hesitancy, D... |
ORPHA:976 |
Congenital Dyserythropoietic Anemia Type Iii |
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Increased mean corpuscular volume, Anemia, Anisocytosis, Poikilocytosis, Abnormal erythrocyte mor... |
ORPHA:98870 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
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Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... |
OMIM:300835 |
Brachydactyly, Type E1 |
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Short clavicles, Short metatarsal, Short metacarpal, Brachydactyly, Type E brachydactyly |
OMIM:113300 |
Diamond-Blackfan Anemia 6 |
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Macrocytic anemia, Triphalangeal thumb, Increased mean corpuscular volume, Persistence of hemoglo... |
OMIM:612561 |
Pyropoikilocytosis, Hereditary |
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Hemolytic anemia, Pyropoikilocytosis, Microspherocytosis, Elliptocytosis |
OMIM:266140 |
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
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Hemolytic anemia, Elliptocytosis, Anemia of inadequate production |
OMIM:166910 |
Telangiectasia, Hereditary Hemorrhagic, Type 5 |
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Telangiectasia, Portal hypertension, Spontaneous, recurrent epistaxis |
OMIM:615506 |
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
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Short clavicles, Hypoplastic scapulae, Absent thumb, Bowed humerus, Hypoplastic pelvis |
OMIM:618022 |
Pelvis-Shoulder Dysplasia |
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Short clavicles, Hypoplastic scapulae, Hypoplastic acetabulae, Congenital hip dislocation, Clinod... |
OMIM:169550 |
Ivic Syndrome |
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Leukocytosis, Triphalangeal thumb, Thrombocytopenia, Aplastic clavicle, Synostosis of carpal bone... |
ORPHA:2307 |
Methylcobalamin Deficiency Type Cble |
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Macrocytic anemia, Neutropenia, Increased mean corpuscular volume, Syndactyly, Pancytopenia, Clin... |
ORPHA:2169 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
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Metaphyseal irregularity, Long fibula, Short phalanx of finger, Short long bone, Flat acetabular ... |
OMIM:300106 |
Holt-Oram Syndrome |
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Short clavicles, Triphalangeal thumb, Phocomelia, Aplasia of the ulna, Hypoplasia of the radius, ... |
OMIM:142900 |
Ivic Syndrome |
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Leukocytosis, Upper limb undergrowth, Short clavicles, Triphalangeal thumb, Thrombocytopenia, Hyp... |
OMIM:147750 |
Parietal Foramina With Cleidocranial Dysplasia |
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Short clavicles |
OMIM:168550 |
Shwachman-Diamond Syndrome |
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Chronic neutropenia, Macrocytic anemia, Neutropenia, Proximal femoral epiphysiolysis, Normocytic ... |
ORPHA:811 |
Diamond-Blackfan Anemia 7 |
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Macrocytic anemia, Triphalangeal thumb, Increased mean corpuscular volume, Neutropenia, Short thumb |
OMIM:612562 |
Fgfr2-Related Bent Bone Dysplasia |
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Steep acetabular roof, Short clavicles, Bowing of the legs, Hepatosplenomegaly, Hypoplastic ischi... |
ORPHA:313855 |
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism |
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Down-sloping shoulders, Short clavicles |
OMIM:212112 |
Blackfan-Diamond Anemia |
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Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Triphalangeal thumb, In... |
ORPHA:124 |
Desbuquois Dysplasia 2 |
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Monkey wrench femoral neck, Genu varum, Short clavicles, Metaphyseal widening, Epiphyseal dysplas... |
OMIM:615777 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
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Megaloblastic anemia, Increased mean corpuscular volume |
OMIM:277410 |
Bent Bone Dysplasia Syndrome |
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Hepatosplenomegaly, Short clavicles, Brachydactyly |
OMIM:614592 |
16Q24.3 Microdeletion Syndrome |
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Increased mean corpuscular volume, Hip dysplasia, Proximal placement of thumb, Thrombocytopenia |
ORPHA:261250 |
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects |
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Short clavicles, Short 4th metacarpal |
OMIM:606220 |
Xylt1-Cdg |
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Short clavicles, Short femoral neck, Coxa valga, Broad thumb, Flared metaphysis, Short long bone,... |
ORPHA:370930 |
Melnick-Needles Syndrome |
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Short clavicles, Bowing of the long bones, Abnormality of the metaphysis, Hip dislocation, Short ... |
ORPHA:2484 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
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Absent tibia, Short metatarsal, Proximal placement of thumb, Hypoplasia of the radius, Shallow ac... |
OMIM:609945 |
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa |
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Short femoral neck, Short clavicles, Prominent deltoid tuberosities, Short humerus |
OMIM:610319 |
Cleidocranial Dysplasia |
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Short clavicles, Hypoplastic scapulae, Tapered finger, Abnormality of epiphysis morphology, Hypop... |
ORPHA:1452 |
Crane-Heise Syndrome |
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Toe syndactyly, Hypoplastic scapulae, Aplastic clavicle, Finger syndactyly, Short distal phalanx ... |
ORPHA:1512 |
Achondrogenesis, Type Ia |
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Short clavicles, Hypoplastic scapulae, Hypoplasia of the radius, Abnormality of the femoral metap... |
OMIM:200600 |
Enlarged Parietal Foramina |
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Broad thumb, Short clavicles |
ORPHA:60015 |
9Q31.1Q31.3 Microdeletion Syndrome |
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Short clavicles, Small hand, Tapered finger |
ORPHA:401923 |
Cleidocranial Dysplasia |
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Short clavicles, Long second metacarpal, Hypoplastic scapulae, Hypoplastic iliac wing, Wide pubic... |
OMIM:119600 |
Sweeney-Cox Syndrome |
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Long fingers, Cutaneous syndactyly, Short clavicles, Asplenia |
OMIM:617746 |
Hurler Syndrome |
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Short clavicles, Diaphyseal thickening, Hypoplasia of the femoral head, Splenomegaly, Hepatosplen... |
OMIM:607014 |
Sifrim-Hitz-Weiss Syndrome |
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Short femoral neck, Short clavicles, Flat acetabular roof, Tapered finger |
OMIM:617159 |
Occipital Horn Syndrome |
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Aplasia/hypoplasia of the humerus, Absent tibia, Humerus varus, Avascular necrosis of the capital... |
ORPHA:198 |
Microgastria-Limb Reduction Defect Syndrome |
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Abnormality of the spleen, Phocomelia, Aplastic clavicle, Abnormality of the radius, Abnormality ... |
ORPHA:2538 |
Blomstrand Lethal Chondrodysplasia |
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Abnormality of epiphysis morphology, Bowing of the long bones, Aplastic clavicle, Short metacarpa... |
ORPHA:50945 |
Melnick-Needles Syndrome |
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Tibial bowing, Short clavicles, Hypoplastic scapulae, Genu valgum, Hip dislocation, Short distal ... |
OMIM:309350 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
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Short phalanx of finger, Osteolytic defects of the distal phalanges of the hand, Acroosteolysis o... |
OMIM:608612 |
Chime Syndrome |
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Aplasia/Hypoplasia of the phalanges of the toes, Acute leukemia, Abnormality of epiphysis morphol... |
ORPHA:3474 |
Spondylodysplastic Ehlers-Danlos Syndrome |
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Hallux valgus, Short clavicles, Flat capital femoral epiphysis, Abnormal femoral head morphology,... |
ORPHA:536471 |
Ulnar-Mammary Syndrome |
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Short 5th toe, Short clavicles, Hypoplastic scapulae, Short 4th toe, Aplasia of the ulna, Hypopla... |
OMIM:181450 |
Focal Dermal Hypoplasia |
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Toe syndactyly, Short clavicles, Abnormality of epiphysis morphology, Finger syndactyly, Split ha... |
ORPHA:2092 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
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Short clavicles, Hypoplastic scapulae, Epiphyseal stippling, Congenital hip dislocation, Hypoplas... |
OMIM:308050 |
Van Maldergem Syndrome 2 |
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Cutaneous finger syndactyly, Short clavicles, Short fourth metatarsal, Short 4th metacarpal, Clin... |
OMIM:615546 |
Mandibuloacral Dysplasia |
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Short clavicles, Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of distal... |
ORPHA:2457 |
Van Maldergem Syndrome 1 |
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Cutaneous finger syndactyly, Short clavicles, Short fourth metatarsal, Short 4th metacarpal, Clin... |
OMIM:601390 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
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Short clavicles, Bowing of the long bones, Dislocated radial head, Arachnodactyly, Long toe, Coxa... |
OMIM:130070 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
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Preaxial polydactyly, Aplastic clavicle, Postaxial polydactyly |
OMIM:616546 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
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Bifid femur, Aplastic clavicle, Abnormality of the metaphysis, Broad distal phalanx of finger, Ab... |
ORPHA:2636 |
Marbach-Rustad Progeroid Syndrome |
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Femur fracture, Short clavicles |
OMIM:619322 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
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Short clavicles, Splenomegaly, Postaxial hand polydactyly, Short long bone, Brachydactyly |
OMIM:617088 |
Familial Osteodysplasia, Anderson Type |
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Aplasia/hypoplasia of the femur, Clinodactyly of the 5th finger, Aplastic clavicle, Bifid femur |
ORPHA:2769 |
Lenz-Majewski Hyperostotic Dwarfism |
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Symphalangism affecting the phalanges of the hand, Aplastic clavicle, Abnormality of the metaphys... |
ORPHA:2658 |
Ear-Patella-Short Stature Syndrome |
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Patellar aplasia, Abnormality of epiphysis morphology, Aplastic clavicle, Slender long bone, Camp... |
ORPHA:2554 |
Cdags Syndrome |
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Short clavicles |
OMIM:603116 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
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Short clavicles, Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of distal... |
OMIM:248370 |
Occipital Horn Syndrome |
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Short clavicles, Capitate-hamate fusion, Genu valgum, Pelvic bone exostoses, Short humerus, Coxa ... |
OMIM:304150 |
Eisenmenger Syndrome |
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Iron deficiency anemia, Increased mean corpuscular volume, Hypochromic microcytic anemia, Clubbing |
ORPHA:97214 |
Yunis-Varon Syndrome |
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Short metatarsal, Absent hallux, Aplastic clavicle, Aplasia/Hypoplasia of the distal phalanges of... |
OMIM:216340 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
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Tarsal synostosis, Aplastic clavicle |
ORPHA:85199 |
Floating-Harbor Syndrome |
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Short clavicles, Humeral pseudarthrosis, Avascular necrosis of the capital femoral epiphysis, Dis... |
ORPHA:2044 |
Hutchinson-Gilford Progeria Syndrome |
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Coxa valga, Hip dislocation, Short clavicles, Osteolytic defects of the distal phalanges of the hand |
ORPHA:740 |
Microphthalmia, Syndromic 1 |
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Short clavicles, Radial deviation of finger, Down-sloping shoulders, Syndactyly, Camptodactyly, C... |
OMIM:309800 |