Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
Diamond-Blackfan Anemia 19 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Anemia |
OMIM:618312 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Heinz Body Anemias |
|
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia |
OMIM:140700 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di... |
OMIM:601894 |
Polycystic Kidney Disease 7 |
|
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Hypertension, Multiple renal ... |
OMIM:620056 |
Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... |
OMIM:137950 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... |
OMIM:616689 |
Iga Nephropathy, Susceptibility To, 3 |
|
Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, Hypertension,... |
OMIM:616818 |
Nail-Patella-Like Renal Disease |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Hypertension, Microscopic hematuria |
ORPHA:2613 |
Iga Nephropathy, Susceptibility To, 2 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i... |
OMIM:613944 |
Focal Segmental Glomerulosclerosis 2 |
|
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Hypertension, Focal segmenta... |
OMIM:603965 |
Oslam Syndrome |
|
Clinodactyly of the 5th finger, Radioulnar synostosis, Increased mean corpuscular volume, Abnorma... |
ORPHA:2760 |
Renal Failure, Progressive, With Hypertension |
|
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Hypertension, Microscopic hemat... |
OMIM:161900 |
Intrinsic Factor Deficiency |
|
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio... |
OMIM:261000 |
Focal Segmental Glomerulosclerosis 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Hypertension, Focal segmental glomerulosclerosis, Mi... |
OMIM:613237 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Renal insufficiency, Proteinuria, Hematuria, Hypertension, Focal segmental glomerulosclerosis |
OMIM:607832 |
Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
Familial Pseudohyperkalemia |
|
Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume |
ORPHA:90044 |
Moyamoya Disease 1 |
|
Inflammatory arteriopathy, Telangiectasia |
OMIM:252350 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
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Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias |
OMIM:620044 |
Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... |
ORPHA:232 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega... |
ORPHA:3202 |
Bone Marrow Failure Syndrome 6 |
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Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia |
OMIM:618849 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
Adenine Phosphoribosyltransferase Deficiency |
|
Renal insufficiency, Atrial fibrillation, Proteinuria, Recurrent urinary tract infections, Dysuri... |
ORPHA:976 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Poikilocytosis,... |
ORPHA:98870 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volume |
OMIM:185000 |
Brachydactyly, Type E1 |
|
Short metacarpal, Short metatarsal, Short clavicles, Type E brachydactyly, Brachydactyly |
OMIM:113300 |
Pulmonary Hypertension, Primary, 1 |
|
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... |
OMIM:178600 |
Arterial Calcification, Generalized, Of Infancy, 2 |
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Tricuspid regurgitation, Myocardial infarction, Coronary artery calcification, Congestive heart f... |
OMIM:614473 |
Diamond-Blackfan Anemia 6 |
|
Macrocytic anemia, Short thumb, Persistence of hemoglobin F, Increased mean corpuscular volume, T... |
OMIM:612561 |
Telangiectasia, Hereditary Hemorrhagic, Type 5 |
|
Spontaneous, recurrent epistaxis, Portal hypertension, Telangiectasia |
OMIM:615506 |
Pyropoikilocytosis, Hereditary |
|
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis |
OMIM:266140 |
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production |
OMIM:166910 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Er... |
OMIM:617021 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
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Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia |
OMIM:613839 |
Cleidocranial Dysplasia 2 |
|
Down-sloping shoulders, Aplastic clavicle, Coxa valga, Genu valgum, Delayed ossification of carpa... |
OMIM:620099 |
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Hypoplastic scapulae, Bowed humerus, Absent thumb, Short clavicles, Hypoplastic pelvis |
OMIM:618022 |
Ivic Syndrome |
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Aplastic clavicle, Preaxial hand polydactyly, Short thumb, Hypoplasia of the radius, Leukocytosis... |
ORPHA:2307 |
Pelvis-Shoulder Dysplasia |
|
Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic ilia, Hypoplastic acetabulae, Short... |
OMIM:169550 |
Parietal Foramina With Cleidocranial Dysplasia |
|
Short clavicles |
OMIM:168550 |
Methylcobalamin Deficiency Type Cble |
|
Syndactyly, Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume, Neutropenia, Clin... |
ORPHA:2169 |
Holt-Oram Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi... |
OMIM:142900 |
Ivic Syndrome |
|
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Absent thumb, Short thumb,... |
OMIM:147750 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... |
ORPHA:811 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Short metacarpal... |
OMIM:300106 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Metaphyseal dysplasia, Pancytopenia, Congenital hip dislocation, Aplastic... |
OMIM:617052 |
Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Short thumb, Increased mean corpuscular volume, Triphalangeal thumb, Neutropenia |
OMIM:612562 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Pure red cell aplasia, Absent thumb, Short thumb, Partial duplication of ... |
ORPHA:124 |
Bent Bone Dysplasia Syndrome 1 |
|
Bent long bone, Hypoplastic pubic bone, Hepatosplenomegaly, Short clavicles, Brachydactyly |
OMIM:614592 |
Desbuquois Dysplasia 2 |
|
Epiphyseal dysplasia, Short metacarpal, Monkey wrench femoral neck, Coxa valga, Metaphyseal widen... |
OMIM:615777 |
Immunodeficiency 96 |
|
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume |
OMIM:619774 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Increased mean corpuscular volume, Megaloblastic anemia |
OMIM:277410 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Absent thumb, Hypoplastic ilia, Short thumb, Partial duplication of thumb phal... |
OMIM:105650 |
16Q24.3 Microdeletion Syndrome |
|
Thrombocytopenia, Hip dysplasia, Increased mean corpuscular volume, Proximal placement of thumb |
ORPHA:261250 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Anemia, Leukopenia, Increased mean corpuscular volume, Lymphopenia, Thrombocytop... |
OMIM:127550 |
Melnick-Needles Syndrome |
|
Bowing of the long bones, Coxa valga, Hip dislocation, Cone-shaped epiphyses of the phalanges of ... |
ORPHA:2484 |
Xylt1-Cdg |
|
Coxa valga, Flared metaphysis, Short long bone, Short femoral neck, Short clavicles, Clinodactyly... |
ORPHA:370930 |
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism |
|
Recurrent shoulder dislocation, Down-sloping shoulders, Short clavicles, Finger joint contracture |
OMIM:212112 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Hand monodactyly, Patella... |
OMIM:609945 |
Cleidocranial Dysplasia |
|
Hypoplastic scapulae, Down-sloping shoulders, Tapered finger, Abnormal thumb morphology, Coxa var... |
ORPHA:1452 |
Restrictive Dermopathy 2 |
|
Overtubulated long bones, Short clavicles |
OMIM:619793 |
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects |
|
Short 4th metacarpal, Short clavicles |
OMIM:606220 |
Fgfr2-Related Bent Bone Dysplasia |
|
Extramedullary hematopoiesis, Hypoplastic ischia, Bowing of the legs, Hepatosplenomegaly, Short c... |
ORPHA:313855 |
Crane-Heise Syndrome |
|
Finger syndactyly, Toe syndactyly, Hypoplastic scapulae, Aplastic clavicle, Short distal phalanx ... |
ORPHA:1512 |
Enlarged Parietal Foramina |
|
Broad thumb, Short clavicles |
ORPHA:60015 |
Van Den Ende-Gupta Syndrome |
|
Hallux valgus, Hypoplastic scapulae, Glenoid fossa hypoplasia, Arachnodactyly, Distal ulnar hypop... |
OMIM:600920 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Small hand, Short clavicles, Tapered finger |
ORPHA:401923 |
Cleidocranial Dysplasia 1 |
|
Hypoplastic scapulae, Aplastic clavicle, Short middle phalanx of the 2nd finger, Hip dislocation,... |
OMIM:119600 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Aplasia of the distal phalanx of the 2nd finger, 2-5 finger syndactyly, Finger syndactyly, Congen... |
OMIM:308050 |
Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Hypoplastic scapulae, Bowing of the legs, Hypoplasia of t... |
OMIM:200600 |
Pycnodysostosis |
|
Narrow iliac wing, Osteolytic defects of the distal phalanges of the hand, Aplastic clavicle, Bra... |
OMIM:265800 |
Microgastria-Limb Reduction Defect Syndrome |
|
Abnormal morphology of the radius, Aplastic clavicle, Abnormality of the humerus, Short thumb, Ab... |
ORPHA:2538 |
Occipital Horn Syndrome |
|
Brachydactyly, Down-sloping shoulders, Aplastic clavicle, Aplasia/hypoplasia of the humerus, Coxa... |
ORPHA:198 |
Sweeney-Cox Syndrome |
|
2-4 finger syndactyly, 2-5 finger cutaneous syndactyly, Asplenia, Long fingers, Short clavicles, ... |
OMIM:617746 |
Hurler Syndrome |
|
Hypoplasia of the femoral head, Coxa valga, Splenomegaly, Metaphyseal widening, Hepatosplenomegal... |
OMIM:607014 |
Blomstrand Lethal Chondrodysplasia |
|
Short metacarpal, Bowing of the long bones, Aplastic clavicle, Flared metaphysis, Abnormal epiphy... |
ORPHA:50945 |
Melnick-Needles Syndrome |
|
Short humerus, Hypoplastic scapulae, Coxa valga, Flared metaphysis, Hip dislocation, Cone-shaped ... |
OMIM:309350 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Hallux valgus, Metaphyseal dysplasia, Bowing of the long bones, Subluxation of the small joints o... |
ORPHA:536471 |
Ulnar-Mammary Syndrome |
|
Deformed radius, Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Aplasia of the 5th ... |
OMIM:181450 |
Chime Syndrome |
|
Aplastic clavicle, Aplasia/Hypoplasia of the phalanges of the hand, Hip dislocation, Clubbing of ... |
ORPHA:3474 |
Sifrim-Hitz-Weiss Syndrome |
|
Short femoral neck, Short clavicles, Flat acetabular roof, Tapered finger |
OMIM:617159 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of distal phalanges (feet)... |
OMIM:608612 |
Focal Dermal Hypoplasia |
|
Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Split hand, Split foot, Hand polydact... |
ORPHA:2092 |
Van Maldergem Syndrome 1 |
|
Short fourth metatarsal, Cutaneous finger syndactyly, Short clavicles, Camptodactyly, Clinodactyl... |
OMIM:601390 |
Van Maldergem Syndrome 2 |
|
Short fourth metatarsal, Cutaneous syndactyly of toes, Cutaneous finger syndactyly, Short clavicl... |
OMIM:615546 |
Mandibuloacral Dysplasia |
|
Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of distal phalanges (feet)... |
ORPHA:2457 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Long toe, Bowing of the long bones, Arachnodactyly, Phalangeal dislocation, Coxa valga, Flared me... |
OMIM:130070 |
Marbach-Rustad Progeroid Syndrome |
|
Femur fracture, Short clavicles |
OMIM:619322 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Down-sloping shoulders, Coxa valga, Osteolytic defects of the distal phalanges of the hand, Short... |
OMIM:248370 |
Familial Osteodysplasia, Anderson Type |
|
Clinodactyly of the 5th finger, Bifid femur, Aplasia/hypoplasia of the femur, Aplastic clavicle |
ORPHA:2769 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Brachydactyly, Abnormal distal phalanx morphology of finger, Aplastic clavicle, Large iliac wing,... |
ORPHA:2636 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Finger syndactyly, Aplastic clavicle, Abnormal metacarpal morphology, Abnormal finger morphology,... |
ORPHA:2658 |
Ear-Patella-Short Stature Syndrome |
|
Camptodactyly of finger, Aplastic clavicle, Patellar aplasia, Slender long bone, Abnormal epiphys... |
ORPHA:2554 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Postaxial polydactyly, Splenomegaly, Postaxial hand polydactyly, Cone-shaped epiphysis, Short lon... |
OMIM:617088 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Postaxial polydactyly, Preaxial polydactyly, Aplastic clavicle |
OMIM:616546 |
Eisenmenger Syndrome |
|
Iron deficiency anemia, Increased mean corpuscular volume, Clubbing, Hypochromic microcytic anemia |
ORPHA:97214 |
Cdags Syndrome |
|
Short clavicles |
OMIM:603116 |
Floating-Harbor Syndrome |
|
Brachydactyly, Ivory epiphyses of the distal phalanges of the hand, Short middle phalanx of the 2... |
OMIM:136140 |
Yunis-Varon Syndrome |
|
Congenital hip dislocation, Short metatarsal, Absent hallux, Aplastic clavicle, Tapered finger, A... |
OMIM:216340 |
Occipital Horn Syndrome |
|
Short humerus, Pelvic bone exostoses, Coxa valga, Capitate-hamate fusion, Genu valgum, Short clav... |
OMIM:304150 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Tarsal synostosis, Aplastic clavicle |
ORPHA:85199 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Short fourth metatarsal, Short fifth metatarsal, Tapered finger, Cone-shaped epiphysis, Short cla... |
OMIM:619841 |
Floating-Harbor Syndrome |
|
Short metacarpal, Brachydactyly, Avascular necrosis of the capital femoral epiphysis, Short thumb... |
ORPHA:2044 |
Restrictive Dermopathy 1 |
|
Rocker bottom foot, Overtubulated long bones, Osteolytic defects of the distal phalanges of the h... |
OMIM:275210 |
Hutchinson-Gilford Progeria Syndrome |
|
Osteolytic defects of the distal phalanges of the hand, Hip dislocation, Short clavicles, Coxa valga |
ORPHA:740 |
Microphthalmia, Syndromic 1 |
|
Syndactyly, Down-sloping shoulders, Short clavicles, Radial deviation of finger, Camptodactyly, P... |
OMIM:309800 |