| Hemoglobin D Disease |
|
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... |
ORPHA:90039 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Decreased mean corpuscular volume, Anemia, Hypochromia |
OMIM:205950 |
| Immunodeficiency 40 |
|
Lymphopenia |
OMIM:616433 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Decreased mean corpuscular volume, Anemia, Hypochromia |
OMIM:206100 |
| Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive |
|
Sideroblastic anemia, Hepatosplenomegaly, Pyridoxine-responsive sideroblastic anemia, Decreased m... |
OMIM:206000 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia, Pallor |
ORPHA:46532 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
| Methemoglobin Reductase Deficiency |
|
Abnormal erythrocyte morphology |
OMIM:250700 |
| Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
| Immunodeficiency 8 |
|
Lymphopenia |
OMIM:615401 |
| Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Pancytopenia, Acute myeloid leukemia, Neutropenia, Anemia, Increased mean corpuscular volume, Thr... |
OMIM:619041 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:231249 |
| Diamond-Blackfan Anemia 3 |
|
Elevated red cell adenosine deaminase level, Increased mean corpuscular volume, Macrocytic anemia... |
OMIM:610629 |
| Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Lymphopenia |
OMIM:615615 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Splenomegaly, Hepatomegaly, Growth delay, Jaundice, Anisocytosis, Anemia, Short ... |
OMIM:615631 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Poikilocytosis, Splenomegaly, Hepatomegaly, Growth delay, Anemia, Pallor, Decreased mean corpuscu... |
OMIM:615234 |
| Intrinsic Factor Deficiency |
|
Megaloblastic erythroid hyperplasia, Megaloblastic anemia, Increased mean corpuscular volume |
OMIM:261000 |
| Bone Marrow Failure Syndrome 6 |
|
Neutropenia, Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia |
OMIM:618849 |
| Diamond-Blackfan Anemia 8 |
|
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia |
OMIM:612563 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anemia of inadequate production, Oval macrocytosis, Anisocytosis, Poikilocytosis |
OMIM:603529 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular hemoglobin concentration, Splenomegaly, Acanthocytosis, Hemolytic anem... |
OMIM:616689 |
| Hemoglobin H Disease |
|
Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
| Fetal Cytomegalovirus Syndrome |
|
Anemia, Splenomegaly, Hepatomegaly |
ORPHA:294 |
| Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
| Hemoglobin E Disease |
|
Splenomegaly, Increased red blood cell count, Abnormal hemoglobin, Anemia of inadequate productio... |
ORPHA:2133 |
| Delta-Beta-Thalassemia |
|
Microcytic anemia, Anemia, Abnormal hemoglobin |
ORPHA:231237 |
| Immunodeficiency 19 |
|
Lymphopenia |
OMIM:615617 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Anemia, Splenomegaly, Thrombocytopenia |
ORPHA:231393 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin |
ORPHA:231242 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... |
OMIM:603902 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Anemia, Sideroblastic, 4 |
|
Sideroblastic anemia, Abnormal erythrocyte morphology |
OMIM:182170 |
| Sickle Cell Anemia |
|
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Thrombocytosis, Iron defici... |
ORPHA:232 |
| Danon Disease |
|
Dilated cardiomyopathy, Generalized amyotrophy, Hypertrophic cardiomyopathy, EMG: myopathic abnor... |
OMIM:300257 |
| Overhydrated Hereditary Stomatocytosis |
|
Decreased mean corpuscular hemoglobin concentration, Splenomegaly, Anisocytosis, Abnormal mean co... |
ORPHA:3203 |
| Oslam Syndrome |
|
Abnormality of neutrophils, Increased mean corpuscular volume |
ORPHA:2760 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo... |
ORPHA:67044 |
| Myelolymphatic Insufficiency |
|
Leukopenia, Hyposegmentation of neutrophil nuclei |
OMIM:310350 |
| Pancytopenia And Occlusive Vascular Disease |
|
Pancytopenia, Anemia, Leukopenia, Thrombocytopenia |
OMIM:167850 |
| Familial Pseudohyperkalemia |
|
Reticulocytosis, Episodic hemolytic anemia, Increased mean corpuscular volume, Stomatocytosis |
ORPHA:90044 |
| Diamond-Blackfan Anemia 18 |
|
Neutropenia, Erythroid hypoplasia, Steroid-responsive anemia |
OMIM:618310 |
| Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Leukopenia, Thrombocytosis, Acute myeloid leukemia, Anisocytosis, Abnormality of neutrophil morph... |
ORPHA:86841 |
| Iron-Refractory Iron Deficiency Anemia |
|
Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia |
OMIM:206200 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Macrocytic anemia, Increased hemoglobin, Anisocytosis, Neutrope... |
OMIM:300835 |
| Diamond-Blackfan Anemia 19 |
|
Anemia, Erythroid hypoplasia, Steroid-responsive anemia |
OMIM:618312 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Splenomegaly, Anisocytosis, Reduced red cell pyruvate kinase level, Anemia, Chronic hemolytic ane... |
ORPHA:766 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Poikilocytosis, Splenomegaly, Anisocytosis, Erythroid hyperplasia, Reticulocytosis, Anemia of ina... |
OMIM:224120 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Abnormal hemoglobin, Anemia, Thrombocytopenia |
ORPHA:3319 |
| X-Linked Sideroblastic Anemia |
|
Pallor, Anemia, Splenomegaly, Elevated hepatic transaminase |
ORPHA:75563 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:300448 |
| Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
| Lymphoid System Deterioration, Progressive |
|
Lymphopenia, Abnormal T cell morphology |
OMIM:247630 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis |
OMIM:247800 |
| Dehydrated Hereditary Stomatocytosis |
|
Schistocytosis, Reticulocytosis, Macrocytic anemia, Increased mean corpuscular hemoglobin concent... |
ORPHA:3202 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Anemia, Increased mean corpuscular volume, Abnormal erythrocyte morphology, Poikilo... |
ORPHA:98870 |
| Immunodeficiency 50 |
|
Neutropenia, Lymphopenia |
OMIM:300988 |
| Retinohepatoendocrinologic Syndrome |
|
Pallor, Degenerative liver disease |
OMIM:268040 |
| Immunodeficiency 24 |
|
Reduced proportion of mucosal-associated invariant T cells, Decreased CD4:CD8 ratio, Decreased pr... |
OMIM:615897 |
| Autoimmune Hemolytic Anemia, Cold Type |
|
Pallor, Splenomegaly, Abnormal leukocyte morphology, Hemolytic anemia |
ORPHA:228312 |
| Acute Erythroid Leukemia |
|
Pancytopenia, Anemia, Leukopenia, Erythroid hypoplasia |
ORPHA:318 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Pancytopenia, Hypochromic anemia, Leukocytosis, Granulocytopenia, Normocytic anemia, Megaloblasti... |
ORPHA:75564 |
| Retinitis Pigmentosa 42 |
|
Pallor |
OMIM:612943 |
| Beta-Thalassemia |
|
Cholelithiasis, Microcytic anemia, Abnormal hemoglobin, Splenomegaly, Hepatomegaly, Anemia, Hepat... |
ORPHA:848 |
| Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Pyropoikilocytosis, Chronic hemolytic anemia, Elliptocytosis |
OMIM:617948 |
| Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Failure to thrive, Cataract, Flexion contracture, Scoliosis |
OMIM:617393 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Osteopenia, Splenomegaly, Anemia, Bone pain, Hypocholesterolemia, Hypersplenism, Thrombocytopenia |
OMIM:610539 |
| Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
| Reticular Dysgenesis |
|
Hypoplasia of the thymus, Congenital agranulocytosis, Leukopenia, Lymphopenia |
OMIM:267500 |
| T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Neutropenia, Lymphopenia |
OMIM:614868 |
| Retinitis Pigmentosa 81 |
|
Pallor |
OMIM:617871 |
| Cyanosis, Transient Neonatal |
|
Reticulocytosis, Anemia, Methemoglobinemia |
OMIM:613977 |
| Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction |
OMIM:615092 |
| Cernunnos-Xlf Deficiency |
|
T lymphocytopenia, Thrombocytopenia, Anemia, B lymphocytopenia, Lymphopenia |
ORPHA:169079 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pancytopenia, Megaloblastic anemia, Hepatomegaly, Jaundice, Pallor, Thrombocytopenia |
OMIM:613839 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia, Extramedullary hematopoiesis |
OMIM:615285 |
| Elliptocytosis 1 |
|
Splenomegaly, Jaundice, Hemolytic anemia, Elliptocytosis, Pallor |
OMIM:611804 |
| Reticuloendotheliosis, X-Linked |
|
Anemia, Hepatosplenomegaly, Jaundice |
OMIM:312500 |
| Bone Marrow Failure Syndrome 2 |
|
Anemia, Leukopenia, Thrombocytopenia |
OMIM:615715 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Cholelithiasis, Reticulocytosis, Exercise-induced hemolysis, Splenomegaly, Hepatomegaly, Jaundice... |
OMIM:194380 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Hemolytic anemia, Lymphop... |
ORPHA:444463 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Retinal pigment epithelial atrophy, Anisocytosis, Retinal atrophy, Anemia, Optic disc pallor, Ell... |
OMIM:616959 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leukemia, Thrombocytopenia |
ORPHA:231401 |
| Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome |
|
Small for gestational age, Cataract, Failure to thrive, Arthrogryposis multiplex congenita, Kypho... |
OMIM:212540 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatosplenomegaly, Anisocytosis, Splenomegaly, Anemia, Erythroid hyperplasia, Decreased mean cor... |
OMIM:616860 |
| Forsythe-Wakeling Syndrome |
|
Decreased body weight, Nephrotic syndrome, Osteoporosis, Delayed skeletal maturation, Thrombocyto... |
OMIM:613606 |
| Diamond-Blackfan Anemia 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Macrocytic anemia |
OMIM:612561 |
| Primary Myelofibrosis |
|
Pancytopenia, Increased circulating lactate dehydrogenase concentration, Petechiae, Hepatosplenom... |
ORPHA:824 |
| Leishmaniasis |
|
Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Hepatomegaly, Anemia, Ele... |
ORPHA:507 |
| Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia |
OMIM:242870 |
| Retinitis Pigmentosa 60 |
|
Pallor |
OMIM:613983 |
| Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Micropenis, Cataract, Childhood-onset truncal obesity, Truncal obesity |
OMIM:610156 |
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Block vertebrae, Short neck, Back pain, Vertebral fusion, Abnormality of the odontoid process, Ky... |
OMIM:277300 |
| Acute Myelomonocytic Leukemia |
|
Eosinophilia, Leukocytosis, Anemia, Pallor, Thrombocytopenia |
ORPHA:517 |
| Hb Bart'S Hydrops Fetalis |
|
Abnormal hemoglobin, Splenomegaly, Hepatomegaly, Anemia, Pallor |
ORPHA:163596 |
| Alpha-Thalassemia |
|
Microcytic anemia, Splenomegaly, Anemia, Hemolytic anemia, Abnormal hemoglobin, Hypersplenism |
ORPHA:846 |
| Majeed Syndrome |
|
Microcytic anemia, Hepatosplenomegaly, Erythroid hyperplasia, Decreased mean corpuscular volume, ... |
OMIM:609628 |
| Left Ventricular Noncompaction 10 |
|
Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:615396 |
| Hereditary Spherocytosis |
|
Cholelithiasis, Reticulocytosis, Increased mean corpuscular hemoglobin concentration, Hepatomegal... |
ORPHA:822 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Fava bean-induced hemolytic anemia, Leukocytosis, Anisocytosis, Splenomegaly, Heinz bodies, Retic... |
OMIM:300908 |
| Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Developmental cataract, Decreased HDL cholesterol concentration, Failure to thrive, Hypocholester... |
OMIM:616834 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Left ventricular noncompaction, Left ventricular hypertrophy, Endocardial... |
OMIM:601493 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Hepatosplenomegaly, Growth delay, Anemia, Elevated hepatic iron concentration, Elevated hepatic t... |
ORPHA:300298 |
| Microcephaly With Cervical Spine Fusion Anomalies |
|
Vertebral fusion, Spinal instability |
OMIM:251250 |
| Hyperbilirubinemia, Shunt, Primary |
|
Splenomegaly, Hepatomegaly, Jaundice, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequat... |
OMIM:237800 |
| Beta-Thalassemia Intermedia |
|
Cholelithiasis, Abnormality of the liver, Hepatosplenomegaly, Pallor, Leukocytosis, Anemia of ina... |
ORPHA:231222 |
| Breath-Holding Spells |
|
Pallor, Iron deficiency anemia |
OMIM:607578 |
| Erythroleukemia, Familial, Susceptibility To |
|
Leukemia, Acute myeloid leukemia, Splenomegaly, Hepatomegaly, Anemia, Erythroid hyperplasia, Thro... |
OMIM:133180 |
| Immunodeficiency 52 |
|
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Increased proportion... |
OMIM:617514 |
| Immunodeficiency 21 |
|
Neutropenia, Abnormal natural killer cell morphology, Myeloid leukemia, Aplastic anemia, Monocyto... |
OMIM:614172 |
| Aldh18A1-Related De Barsy Syndrome |
|
Cataract, Joint hyperflexibility |
ORPHA:35664 |
| Cardiomyopathy, Dilated, 1R |
|
Dilated cardiomyopathy, Left ventricular noncompaction, Left ventricular hypertrophy, Restrictive... |
OMIM:613424 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Schistocytosis, Reticulocytosis, Circulating nucleated red blood cells, Hepatosplenomegaly, Poiki... |
OMIM:613673 |
| Keratoconus Posticus Circumscriptus |
|
Short neck, Central posterior corneal opacity, Limited elbow extension and supination, Keratoconu... |
OMIM:244600 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Radioulnar synostosis, Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
| Evans Syndrome |
|
Petechiae, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Jaundice, Neutropenia in pre... |
ORPHA:1959 |
| Refractory Anemia With Excess Blasts |
|
Leukocytosis, Retinal hemorrhage, Acute myeloid leukemia, Abnormal mean corpuscular volume, Anemi... |
ORPHA:86839 |
| Kniest Dysplasia |
|
Coronal cleft vertebrae, Abnormal joint morphology, Delayed patellar ossification, Lens luxation,... |
ORPHA:485 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Microcytic anemia, Hypochromic anemia, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyper... |
OMIM:600462 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly |
OMIM:183350 |
| Cold Agglutinin Disease |
|
Pallor, Splenomegaly, Hepatomegaly, Hemolytic anemia |
ORPHA:56425 |
| Optic Atrophy 9 |
|
Pallor |
OMIM:616289 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Reticulocytosis, Hepatosplenomegaly, Short stature, Hemolytic anemia, Pallor, Decreased mean corp... |
OMIM:611590 |
| Methylcobalamin Deficiency Type Cble |
|
Pancytopenia, Increased mean corpuscular volume, Neutropenia, Macrocytic anemia |
ORPHA:2169 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Amelogenesis imperfecta, Joint laxity, Osteoporosis, Elevated circulating creatine kinase concent... |
OMIM:614727 |
| Prader-Willi Habitus, Osteopenia, And Camptodactyly |
|
Osteopenia, Obesity, Osteoporosis, Camptodactyly, Joint contracture of the hand |
OMIM:264010 |
| Bardet-Biedl Syndrome 18 |
|
Cataract, Obesity, Renal insufficiency |
OMIM:615995 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Carpal synostosis, Craniosynostosis, Short neck, Elbow flexion contracture, Knee flexion contract... |
OMIM:178110 |
| Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
| Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Joint stiffness, Abnormal form of the vertebral bodies, Sacral dimple, Tarsal synostosis, Posteri... |
ORPHA:2064 |
| Immunodeficiency 76 |
|
T lymphocytopenia, Lymphopenia, Splenomegaly, B lymphocytopenia |
OMIM:619164 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
| Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Megaloblastic anemia, Increased mean corpuscular volume |
OMIM:277410 |
| T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
T lymphocytopenia, Abnormally low T cell receptor excision circle level |
OMIM:618806 |
| Thrombocytopenia 2 |
|
Leukocytosis, Thrombocytopenia |
OMIM:188000 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death, Anemia, Hepatosplenomegaly |
OMIM:273680 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Decreased helper T cell proportion, T lymphocytopenia |
OMIM:601705 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Left ventricular noncompaction, Endocardial fibroelastosis, Cardiomyocyte... |
OMIM:612158 |
| Intellectual Disability-Cataracts-Kyphosis Syndrome |
|
Thoracic kyphosis, Cataract, Knee flexion contracture, Failure to thrive, Elbow flexion contractu... |
ORPHA:171860 |
| Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction, Patent ductus arteriosus, Left ventricular noncompaction cardiomy... |
OMIM:604169 |
| Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Advanced ossification of carpal bones, Coronal cleft vertebrae, Accelerated skeletal maturation, ... |
OMIM:618363 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Flexion contracture, Short neck, Antecubital pterygium, Fused thoracic vertebrae, Scoliosis, Fuse... |
OMIM:618469 |
| Multiple Synostoses Syndrome 2 |
|
Carpal synostosis, Finger symphalangism, Proximal symphalangism, Vertebral fusion, Humeroradial s... |
OMIM:610017 |
| Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Acute myeloid leukemia, Leukopenia, Refractory anemia, Monocytosis |
OMIM:616871 |
| Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
| Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Eosinophilia, Lymphopenia |
ORPHA:2582 |
| Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Thoracic scoliosis, Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Iris coloboma |
OMIM:613702 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Block vertebrae, Vertebral fusion, Abnormality of the odontoid process, Spina bifida occulta, Ver... |
OMIM:613686 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Cataract, 3-Methylglutaconic aciduria, Failure to thrive, Iris hypopigmentation, Thrombocytopenia |
ORPHA:67048 |
| Diamond-Blackfan Anemia 7 |
|
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia |
OMIM:612562 |
| Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
| Shwachman-Diamond Syndrome 1 |
|
Short stature, Myocardial necrosis |
OMIM:260400 |
| Congenital Atransferrinemia |
|
Anemia, Abnormality of the pancreas |
ORPHA:1195 |
| Left Ventricular Noncompaction 8 |
|
Left ventricular noncompaction, Dilated cardiomyopathy, Abnormal left ventricle morphology |
OMIM:615373 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Achilles tendon contracture, Kyphosis, Hyperlordosis, Elevated circulating creatine kinase concen... |
OMIM:606612 |
| Hemochromatosis, Type 2B |
|
Splenomegaly, Hepatomegaly, Anemia, Elevated hepatic transaminase, Cirrhosis, Hepatic fibrosis |
OMIM:613313 |
| Thrombocytopenic Purpura, Autoimmune |
|
Thrombocytopenia |
OMIM:188030 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Cholelithiasis, Reduced level of N-acetylglucosaminyltransferase II, Splenomegaly, Jaundice, Reti... |
OMIM:224100 |
| Gorlin Syndrome |
|
Vertebral wedging, Cataract, Scoliosis, Vertebral fusion, Hemivertebrae, Iris coloboma |
ORPHA:377 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Cataract, Kyphosis, Congenital bilateral hip dislocation, Small for gestational age |
ORPHA:85288 |
| Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Cataract, Hyperlordosis, Increased adipose tissue, Elevated circulating creatine kinase concentra... |
OMIM:617404 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Pancytopenia, Thrombocytosis, Megaloblastic anemia, Macrocytic anemia, Anemia of inadequate produ... |
OMIM:617780 |
| Anemia, Sideroblastic, 5 |
|
Neutropenia, Anemia, Thrombocytopenia, Reduced hematocrit, Hypochromic microcytic anemia |
OMIM:619523 |
| Letterer-Siwe Disease |
|
Hepatosplenomegaly, Jaundice, Neutropenia, Anemia, Pallor, Thrombocytopenia |
OMIM:246400 |
| Beta-Thalassemia Major |
|
Hepatosplenomegaly, Pallor, Decreased mean corpuscular hemoglobin concentration, Hypersplenism, A... |
ORPHA:231214 |
| Brachydactyly, Type B1 |
|
Hypoplastic sacrum, Micropenis, Thoracolumbar scoliosis, Vertebral fusion, Delayed cranial suture... |
OMIM:113000 |
| Schimke Immunoosseous Dysplasia |
|
Thoracic kyphosis, Osteopenia, Short neck, Ovoid vertebral bodies, Shallow acetabular fossae, Pro... |
OMIM:242900 |
| Dextrocardia With Unusual Facies And Microphthalmia |
|
Vertebral segmentation defect, Vertebral fusion |
OMIM:221950 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Unilateral renal agenesis, Sacral dimple, Ureteral atresia, Vertebral fusion, Vertebral segmentat... |
OMIM:618845 |
| Dominant Beta-Thalassemia |
|
Hepatosplenomegaly, Pallor, Decreased mean corpuscular hemoglobin concentration, Hypersplenism, C... |
ORPHA:231226 |
| Immunodeficiency 13 |
|
T lymphocytopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, ... |
OMIM:615518 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Genu varum, Recurrent fractures, Abnormal form of the vertebral bodies, Nephrolithiasis, Abnormal... |
ORPHA:93160 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Pallor, Short stature |
ORPHA:2786 |
| Bilateral Striopallidodentate Calcinosis |
|
Corneal opacity, Thrombocytopenia |
ORPHA:1980 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Genu varum, Vertebral hypoplasia, Abnormal bone ossification, Iron deficiency anemia, Scoliosis, ... |
ORPHA:93315 |
| Diamond-Blackfan Anemia 5 |
|
Reticulocytopenia, Leukopenia, Erythroid hypoplasia, Macrocytic anemia |
OMIM:612528 |
| Niemann-Pick Disease, Type B |
|
Splenomegaly, Anemia, Bone-marrow foam cells, Hypertriglyceridemia, Increased LDL cholesterol con... |
OMIM:607616 |
| Thrombocytopenia 4 |
|
Thrombocytopenia |
OMIM:612004 |
| Acute Peripheral Arterial Occlusion |
|
Pallor, Leukocytosis |
ORPHA:90064 |
| Retinitis Pigmentosa 70 |
|
Pallor |
OMIM:615922 |
| Chylomicron Retention Disease |
|
Hypotriglyceridemia, Failure to thrive, Hypoalbuminemia, Hypocholesterolemia, Steatorrhea, Decrea... |
OMIM:246700 |
| Orotic Aciduria |
|
Folate-unresponsive megaloblastic anemia, Hypochromia, Anisocytosis, Pyrimidine-responsive megalo... |
OMIM:258900 |
| Transcobalamin Deficiency |
|
Pancytopenia, Neutropenia, Lymphopenia, Thrombocytopenia |
ORPHA:859 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Thrombocytopenia |
OMIM:124900 |
| Diaphanospondylodysostosis |
|
Abnormal vertebral segmentation and fusion, Absent or minimally ossified vertebral bodies, Short ... |
ORPHA:66637 |
| Developmental And Epileptic Encephalopathy 73 |
|
Flexion contracture, Cataract, Inguinal hernia, Failure to thrive, Scoliosis, Delayed skeletal ma... |
OMIM:618379 |
| Ehlers-Danlos Syndrome, Beasley-Cohen Type |
|
Joint laxity, Cataract, Cigarette-paper scars, Inguinal hernia, Genu recurvatum, Hip dislocation |
OMIM:608763 |
| Auditory Neuropathy And Optic Atrophy |
|
Pallor |
OMIM:617717 |
| Verheij Syndrome |
|
Renal cyst, Short neck, Renal hypoplasia, Scoliosis, Vertebral fusion, Hemivertebrae, Hip disloca... |
OMIM:615583 |
| Shwachman-Diamond Syndrome |
|
Pancytopenia, Leukopenia, Normocytic anemia, Leukemia, Impaired neutrophil chemotaxis, Transient ... |
ORPHA:811 |
| Atransferrinemia |
|
Hypochromic anemia, Abnormality of the liver |
OMIM:209300 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Neutropenia, Anemia... |
OMIM:603552 |
| Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
| Metatropic Dysplasia |
|
Joint stiffness, Kyphosis, Abnormal enchondral ossification, Abnormal form of the vertebral bodie... |
ORPHA:2635 |
| Peroxisome Biogenesis Disorder 3B |
|
Hypocholesterolemia, Failure to thrive, Osteoporosis, Steatorrhea |
OMIM:266510 |
| Cardiomyopathy, Dilated, 1D |
|
Dilated cardiomyopathy, Left ventricular noncompaction, Left ventricular hypertrophy |
OMIM:601494 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
T lymphocytopenia, Arthritis, Failure to thrive, B lymphocytopenia, Failure to thrive secondary t... |
OMIM:601457 |
| Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
| Blackfan-Diamond Anemia |
|
Leukopenia, Thrombocytosis, Erythroid hypoplasia, Acute myeloid leukemia, Elevated red cell adeno... |
ORPHA:124 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Eosinophilia, Hepatosplenomegaly, Decreased proportion of CD3-positive T cells, Autoimmune hemoly... |
ORPHA:331206 |
| Thrombocytopenia, Cyclic |
|
Neutropenia, Cyclic neutropenia, Thrombocytopenia |
OMIM:188020 |
| Irida Syndrome |
|
Pallor, Intrahepatic cholestasis |
ORPHA:209981 |
| 16Q24.3 Microdeletion Syndrome |
|
Increased mean corpuscular volume, Optic nerve hypoplasia, Thrombocytopenia |
ORPHA:261250 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Renal cyst, Osteopenia, Flexion contracture, Kyphosis, Proteinuria, Thrombocytosis, Nephrotic syn... |
OMIM:212065 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Anemia, Hepatosplenomegaly, Granulocytopenia, Hemophagocytosis |
OMIM:608898 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Lymphopenia, Thrombocytopenia |
OMIM:616744 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Pallor, Megaloblastic anemia, Short stature, Thrombocytopenia |
ORPHA:49827 |
| Flynn-Aird Syndrome |
|
Joint stiffness, Increased bone mineral density, Cataract, Increased bone density with cystic cha... |
OMIM:136300 |
| Spondylocostal Dysostosis 5 |
|
Short neck, Low back pain, Scoliosis, Vertebral fusion, Butterfly vertebrae, Hemivertebrae |
OMIM:122600 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Petechiae, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Growth delay, Anemia, Reticulocytosis,... |
OMIM:611490 |
| Squalene Synthase Deficiency |
|
Increased circulating farnesol concentration, Elevated circulating methylsuccinic acid concentrat... |
OMIM:618156 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Vertebral segmentation defect, Osteopenia, Short neck, Failure to thrive in infancy, Hydronephros... |
OMIM:611209 |
| Aarskog-Scott Syndrome |
|
Short neck, Abnormality of the cervical spine, Inguinal hernia, Genu recurvatum, Umbilical hernia... |
ORPHA:915 |
| Infantile Liver Failure Syndrome 1 |
|
Hepatic steatosis, Hepatomegaly, Acute hepatic failure, Anemia, Elevated hepatic transaminase, Ma... |
OMIM:615438 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Leukocytosis, Abnormal neutrophil count, Myeloproliferative disorder, Splenomegaly, Hepatomegaly,... |
ORPHA:3226 |
| Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Pallor, Chronic lymphatic leukemia |
ORPHA:90033 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Splenomegaly, Failure to thrive, Hyperbilirubinemia, Hypocholesterolemia, Rickets, Steatorrhea |
OMIM:607765 |
| Hemochromatosis, Type 3 |
|
Neutropenia, Anemia, Elevated hepatic transaminase, Lymphopenia, Cirrhosis, Purpura |
OMIM:604250 |
| Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Obesity, Joint stiffness |
ORPHA:1078 |
| Dermatitis, Atopic |
|
Pallor, Dry skin, Facial erythema |
OMIM:603165 |
| Galactosemia Ii |
|
Hypergalactosemia, Cataract, Galactosuria |
OMIM:230200 |
| Combined Oxidative Phosphorylation Deficiency 31 |
|
Left ventricular noncompaction, Hypertrophic cardiomyopathy |
OMIM:617228 |
| Rh Deficiency Syndrome |
|
Macrocytic anemia, Hepatosplenomegaly, Anisocytosis, Spherocytosis, Hemolytic anemia, Stomatocyto... |
ORPHA:71275 |
| Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
| Kahrizi Syndrome |
|
Thoracic kyphosis, Cataract, Knee flexion contracture, Elbow flexion contracture, Iris coloboma |
OMIM:612713 |
| Isolated Klippel-Feil Syndrome |
|
Cervical C2/C3 vertebral fusion, Abnormality of the vertebral column, Abnormal sacrum morphology,... |
ORPHA:2345 |
| Preeclampsia/Eclampsia 1 |
|
Thrombocytopenia, Proteinuria |
OMIM:189800 |
| Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
| Fechtner syndrome |
|
Developmental cataract, Leukocyte inclusion bodies, Hematuria, Proteinuria, Giant platelets, Neph... |
OMIM:153640 |
| Autosomal Erythropoietic Protoporphyria |
|
Cholelithiasis, Microcytic anemia, Erythema, Decreased liver function, Cirrhosis |
ORPHA:79278 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Achilles tendon contracture, Kyphosis, Hyperlordosis, Elevated circulating creatine kinase concen... |
OMIM:607155 |
| Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Granular corneal dystrophy, Nodular corneal dystrophy, Cataract |
OMIM:121900 |
| Retinitis Pigmentosa 73 |
|
Pallor |
OMIM:616544 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Large for gestational age, Microcornea, Corneal opacity |
ORPHA:2432 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Pallor, Diffuse pancreatic islet hyperplasia, Hepatomegaly, Focal pancreatic islet hyperplasia |
ORPHA:276575 |
| Primary Familial Polycythemia |
|
Abnormal hemoglobin, Polycythemia |
ORPHA:90042 |
| Pearson Marrow-Pancreas Syndrome |
|
Pancytopenia, Exocrine pancreatic insufficiency, Refractory sideroblastic anemia, Hepatic failure... |
OMIM:557000 |
| Immunodeficiency 104 |
|
Failure to thrive secondary to recurrent infections, Splenomegaly, T lymphocytopenia |
OMIM:608971 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Pallor, Hepatomegaly, Diffuse pancreatic islet hyperplasia |
ORPHA:276556 |
| Autoimmune Hemolytic Anemia |
|
Pallor, Splenomegaly, Abnormal leukocyte morphology, Hemolytic anemia |
ORPHA:98375 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
T lymphocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neu... |
ORPHA:231154 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vaginal hernia, Kyphosis, Abnormal form of the vertebral bodies, Hypoplastic vertebral bodies, El... |
ORPHA:2916 |
| Lysosomal Acid Lipase Deficiency |
|
Low alkaline phosphatase, Increased circulating lactate dehydrogenase concentration, Hepatic fail... |
OMIM:278000 |
| Retinitis Pigmentosa 27 |
|
Pallor |
OMIM:613750 |
| Retinopathy, Pigmentary, And Mental Retardation |
|
Joint hypermobility, Cataract, Scoliosis, Truncal obesity |
OMIM:268050 |
| Congenital Toxoplasmosis |
|
Intrauterine growth retardation, Hepatomegaly, Jaundice, Anemia, Elevated hepatic transaminase, T... |
ORPHA:858 |
| Temple Syndrome |
|
Flexion contracture, Small for gestational age, Hypercholesterolemia, Overweight, Joint hypermobi... |
OMIM:616222 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Elbow flexion contracture, Cataract, Osteoporosis, Knee flexion contracture, Failure to thrive, A... |
OMIM:214150 |
| Otopalatodigital Syndrome Type 1 |
|
Synostosis of carpal bones, Increased bone mineral density, Elbow dislocation, Abnormal vertebral... |
ORPHA:90650 |
| Nephrotic Syndrome, Type 7 |
|
Nephrotic syndrome, Hemolytic-uremic syndrome, Proteinuria, Acute kidney injury, Glomerulonephrit... |
OMIM:615008 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
| Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
| Immunodeficiency 31C |
|
Autoimmune hemolytic anemia, Lymphopenia |
OMIM:614162 |
| Sengers Syndrome |
|
3-Methylglutaconic aciduria, Developmental cataract, Thrombocytopenia |
OMIM:212350 |
| Thrombocytopenia 7 |
|
Impaired ADP-induced platelet aggregation, Impaired arachidonic acid-induced platelet aggregation... |
OMIM:619130 |
| Kbg Syndrome |
|
Thoracic kyphosis, Short neck, Persistent open anterior fontanelle, Scoliosis, Vertebral fusion, ... |
ORPHA:2332 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Anemia, Failure to thrive, Osteopetrosis, Thrombocytopenia |
OMIM:615085 |
| Wilson Disease |
|
Arthritis, Kayser-Fleischer ring, Pathologic fracture, Splenomegaly, Back pain, Anemia, Failure t... |
ORPHA:905 |
| 2Q24 Microdeletion Syndrome |
|
Short neck, Small for gestational age, Cataract, Failure to thrive, Camptodactyly of finger, Abno... |
ORPHA:1617 |
| Amoebiasis Due To Free-Living Amoebae |
|
Facial palsy, Myocardial necrosis |
ORPHA:68 |
| Potocki-Lupski Syndrome |
|
Hypocholesterolemia, Failure to thrive, Small for gestational age, Scoliosis |
OMIM:610883 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Eosinophilia, Abnormal mast cell morphology, Leukocytosis, Normocytic anemia, Elevated total seru... |
ORPHA:98849 |
| Wildervanck Syndrome |
|
Short neck, Lens subluxation, Fused cervical vertebrae |
ORPHA:3456 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Dilated cardiomyopathy, Left ventricular noncompaction, Flexion contracture, Ragged-red muscle fi... |
OMIM:252011 |
| Senior-Loken Syndrome 8 |
|
Pallor, Hepatic cysts, Pancreatic cysts |
OMIM:616307 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Pallor, Hepatomegaly, Diffuse pancreatic islet hyperplasia |
ORPHA:276580 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Thoracic kyphoscoliosis, Lumbar hyperlordosis, Scoliosis, Vertebral fusion, Butterfly vertebrae |
ORPHA:313892 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Cataract, Kyphosis, Cubitus valgus, Joint hyperflexibility |
ORPHA:1875 |
| Lowe Oculocerebrorenal Syndrome |
|
Developmental cataract, Proteinuria, Osteomalacia, Wrist swelling, Scoliosis, Elevated maternal s... |
OMIM:309000 |
| 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Pallor, Anemia, Hepatomegaly |
OMIM:246450 |
| Multiple Pterygium Syndrome, X-Linked |
|
Flexion contracture, Increased susceptibility to fractures, Joint dislocation, Abnormal cervical ... |
OMIM:312150 |
| Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Osteopenia, Periostitis, Failure to thrive in infancy, Neutrophilia, Splenomegaly, Elevated circu... |
OMIM:612852 |
| Imerslund-Gräsbeck Syndrome |
|
Pancytopenia, Hypersegmentation of neutrophil nuclei, Reticulocytosis, Megaloblastic anemia, Abno... |
ORPHA:35858 |
| X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Abnormal sacrum morphology, Scoliosis, Thoracic hemivertebrae, Fused cervical vertebrae |
ORPHA:1436 |
| Malaria |
|
Acute kidney injury, Elevated circulating C-reactive protein concentration, Anemia, Hyperbilirubi... |
ORPHA:673 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Pancytopenia, Craniosynostosis, Increased bone mineral density, Sandwich appearance of vertebral ... |
OMIM:259700 |
| Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Chorioretinal coloboma, Lymphopenia |
ORPHA:1116 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Enlargement of the ankles, Nephrocalcinosis, Sparse bone trabeculae, Recurrent fractures, Enlarge... |
OMIM:300554 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Pallor, Autoimmune hemolytic anemia, Splenomegaly |
ORPHA:90037 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Lipodystrophy, Flexion contracture, Arthritis, Splenomegaly, Thrombocytopenia, Anemia, Failure to... |
OMIM:617591 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Vertebral segmentation defect, Carpal synostosis, Block vertebrae, Short neck, Renal cyst, Enamel... |
OMIM:272460 |
| Hermansky-Pudlak Syndrome 9 |
|
Leukopenia, Thrombocytopenia |
OMIM:614171 |
| Schimke Immuno-Osseous Dysplasia |
|
Proteinuria, Anemia, Microscopic hematuria, Stage 5 chronic kidney disease, Lymphopenia, Thromboc... |
ORPHA:1830 |
| Koolen-De Vries Syndrome |
|
Vertebral segmentation defect, Kyphosis, Ureteral duplication, Hydronephrosis, Cataract, Scoliosi... |
ORPHA:96169 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Leukopenia, Thrombocytopenia, Refractory anemia |
OMIM:231095 |
| Atypical Hemolytic Uremic Syndrome |
|
Hematuria, Proteinuria, Acute kidney injury, Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:2134 |
| Dent Disease |
|
Glycosuria, Proteinuria, Osteomalacia, Bone pain, Renal hypophosphatemia, Rickets, Nephrocalcinos... |
ORPHA:1652 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Flexion contracture, Increased susceptibility to fractures, Joint dislocation, Abnormal cervical ... |
OMIM:253290 |
| Morm Syndrome |
|
Micropenis, Cataract, Truncal obesity |
ORPHA:75858 |
| Erythrocytosis, Familial, 8 |
|
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... |
OMIM:222800 |
| Idiopathic Pulmonary Hemosiderosis |
|
Pallor, Iron deficiency anemia, Hepatosplenomegaly, Hepatomegaly |
ORPHA:99931 |
| Transaldolase Deficiency |
|
Hepatosplenomegaly, Anemia, Premature skin wrinkling, Cirrhosis, Thrombocytopenia |
ORPHA:101028 |
| Immunodeficiency 69 |
|
Pancytopenia, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Splenomegaly, Anemia |
OMIM:618963 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Pancytopenia, Increased circulating ferritin concentration, Hepatosplenomegaly, Hemophagocytosis,... |
ORPHA:158057 |
| Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
| Multiple Epiphyseal Dysplasia, Beighton Type |
|
Knee pain, Thoracic scoliosis, Joint stiffness, Lumbar platyspondyly, Intervertebral space narrow... |
ORPHA:166011 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia |
OMIM:166990 |
| Hypercholanemia, Familial 1 |
|
Failure to thrive, Increased serum bile acid concentration, Rickets, Steatorrhea |
OMIM:607748 |
| Pseudopseudohypoparathyroidism |
|
Short neck, Enamel hypoplasia, Cataract, Obesity, Osteoporosis |
OMIM:612463 |
| Myelofibrosis |
|
Pallor, Myeloproliferative disorder, Purpura, Splenomegaly |
OMIM:254450 |
| Achondrogenesis Type 2 |
|
Delayed proximal femoral epiphyseal ossification, Delayed vertebral ossification, Cataract, Delay... |
ORPHA:93296 |
| Phosphoglycerate Dehydrogenase Deficiency |
|
Megaloblastic anemia, Developmental cataract, Thrombocytopenia |
OMIM:601815 |
| Alpha-Heavy Chain Disease |
|
Hepatomegaly, Anemia, Splenomegaly, Growth delay |
ORPHA:100025 |
| Primary Lateral Sclerosis, Juvenile |
|
Pallor |
OMIM:606353 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Pallor, Hepatomegaly |
ORPHA:324575 |
| Otopalatodigital Syndrome Type 2 |
|
Synostosis of carpal bones, Carpal synostosis, Increased bone mineral density, Developmental glau... |
ORPHA:90652 |
| Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Osteopenia, Flexion contracture, Cataract, Failure to thrive, Scoliosis, Irregular vertebral endp... |
OMIM:222765 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Enlargement of the ankles, Sparse bone trabeculae, Recurrent fractures, Enlargement of the wrists... |
OMIM:241530 |
| Gaucher Disease Type 1 |
|
Pancytopenia, Osteopenia, Increased bone mineral density, Leukopenia, Kyphosis, Vertebral compres... |
ORPHA:77259 |
| Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Cervical vertebral bodies with decreased anteroposterior diameter, Widening of cervical spinal ca... |
OMIM:606842 |
| Dent Disease 1 |
|
Glycosuria, Osteomalacia, Microscopic hematuria, Bone pain, Stage 5 chronic kidney disease, Ricke... |
OMIM:300009 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pallor, Pancreatic islet-cell hyperplasia |
ORPHA:276608 |
| Amegakaryocytic Thrombocytopenia, Congenital |
|
Pancytopenia, Amegakaryocytic thrombocytopenia, Thrombocytopenia |
OMIM:604498 |
| Protoporphyria, Erythropoietic, 1 |
|
Cholelithiasis, Erythema, Hepatic failure, Hemolytic anemia |
OMIM:177000 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Obesity, Increased adipose tissue, Hypertriglyceridemia, Childhood-onset truncal obesity |
ORPHA:71529 |
| Isolated Agammaglobulinemia |
|
Abnormal lymphocyte morphology, Cellulitis, Recurrent cutaneous abscess formation, Abnormality of... |
ORPHA:229717 |
| Mu-Heavy Chain Disease |
|
Abnormal B cell count, Anemia, Splenomegaly, Hepatomegaly |
ORPHA:100024 |
| Specific Granule Deficiency 2 |
|
Amelogenesis imperfecta, Osteopenia, Neutropenia, Anemia, Failure to thrive, Absent neutrophil sp... |
OMIM:617475 |
| Hyperinsulinism Due To Hnf4A Deficiency |
|
Increased hepatic glycogen content, Pancreatic islet-cell hyperplasia, Hepatomegaly, Elevated hep... |
ORPHA:263455 |
| Preeclampsia |
|
Elevated circulating creatinine concentration, Small for gestational age, Proteinuria, Acute kidn... |
ORPHA:275555 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormality of the ureter, Kyphosis, Short neck, Hyperlordosis, Hypospadias, Fused cervical verte... |
ORPHA:2522 |
| Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness |
|
Reduced beta/alpha synthesis ratio |
OMIM:609057 |
| Dermatosparaxis Ehlers-Danlos Syndrome |
|
Hiatus hernia, Scarring, Osteopenia, Joint stiffness, Hernia, Osteoporosis, Joint dislocation, Fe... |
ORPHA:1901 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Cervical C2/C3 vertebral fusion, Scoliosis, Short neck, Fused cervical vertebrae |
OMIM:214300 |
| Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Thoracic hemivertebrae, Prominent metopic ridge, Fused cervical vertebrae, Scoliosis |
OMIM:309620 |
| Morbid Obesity And Spermatogenic Failure |
|
Hypercholesterolemia, Obesity, Hypertriglyceridemia, Increased LDL cholesterol concentration, Dec... |
OMIM:615703 |
| Ring Chromosome 21 Syndrome |
|
Fused thoracic vertebrae, Scoliosis, Thoracic hemivertebrae |
ORPHA:1445 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
T lymphocytopenia, Lymphopenia, B lymphocytopenia |
ORPHA:277 |
| Wt Limb-Blood Syndrome |
|
Pancytopenia, Leukemia, Hypoplastic anemia, Joint contracture of the 5th finger, Radioulnar synos... |
OMIM:194350 |
| Bone Marrow Failure Syndrome 4 |
|
Anemia, Leukopenia, Thrombocytopenia |
OMIM:618116 |
| Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Joint stiffness, Cataract, Avascular necrosis, Osteoarthritis, Platyspondyly, Abnormal interverte... |
ORPHA:1345 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Increased circulating ferritin concentration, Hepatosplenomegaly, Hemophagocytosis, Splenomegaly,... |
OMIM:613101 |
| Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Failure to thrive, Cataract, Aminoaciduria |
ORPHA:2278 |
| Abetalipoproteinemia |
|
Corneal ulceration, Osteopenia, Decreased LDL cholesterol concentration, Hypotriglyceridemia, Aca... |
ORPHA:14 |
| Alkaptonuria |
|
Limitation of knee mobility, Elevated urinary homogentisic acid, Kyphosis, Nephrolithiasis, Inter... |
OMIM:203500 |
| Stormorken-Sjaastad-Langslet Syndrome |
|
Anemia, Short stature, Purpura, Asplenia |
ORPHA:3204 |
| Baralle-Macken Syndrome |
|
Urinary incontinence, Cataract, Obesity, Kyphosis |
OMIM:619255 |
| Adult Idiopathic Neutropenia |
|
Neutropenia, Monocytosis, Lymphopenia, Monocytopenia |
ORPHA:2688 |
| Alpha-Mannosidosis |
|
Short neck, Kyphosis, Craniofacial hyperostosis, Cataract, Corneal opacity, Splenomegaly, Avascul... |
ORPHA:61 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... |
OMIM:235700 |
| Lateral Meningocele Syndrome |
|
Wormian bones, Short neck, Kyphosis, Sclerosis of skull base, Joint hypermobility, Inguinal herni... |
OMIM:130720 |
| Roch-Leri Mesosomatous Lipomatosis |
|
Multiple lipomas, Thrombocytopenia |
ORPHA:529 |
| Summitt Syndrome |
|
Obesity, Craniosynostosis |
OMIM:272350 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Craniosynostosis, Increased bone mineral density, Hypophosphatemic rickets, Hypophosphatemia, Ric... |
OMIM:241520 |
| Absence Deformity Of Leg-Cataract Syndrome |
|
Cataract, Hyperlordosis, Scoliosis |
ORPHA:2310 |
| Ankylosing Vertebral Hyperostosis With Tylosis |
|
Abnormality of the vertebral column, Obesity, Osteoarthritis |
ORPHA:2206 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Kyphosis, Abnormality of the cervical spine, Microcornea, Cataract, Osteoporosis, Scoliosis, Camp... |
ORPHA:48431 |
| Microtriplication 11Q24.1 |
|
Short neck, Hyperlipidemia, Obesity, Joint dislocation, Scoliosis, Keratoconus, Genu valgum, Limi... |
ORPHA:289522 |
| Fanconi Renotubular Syndrome 2 |
|
Generalized aminoaciduria, Glycosuria, Osteopenia, Proximal tubulopathy, Hypercalciuria, Renal in... |
OMIM:613388 |
| Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Osteomalacia, Bone pain, Hypophosphatemia, Rickets, Renal phosphate was... |
OMIM:193100 |
| Galactose Epimerase Deficiency |
|
Aminoaciduria, Cataract, Splenomegaly, Weight loss |
ORPHA:79238 |
| Stiff Skin Syndrome |
|
Lipodystrophy, Elbow flexion contracture, Cataract, Knee flexion contracture, Camptodactyly, Limi... |
OMIM:184900 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Pseudo-fractures, Genu varum, Craniosynostosis, Increased bone mineral density, Abnormal trabecul... |
ORPHA:289176 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Enlargement of the ankles, Sparse bone trabeculae, Recurrent fractures, Enlargement of the wrists... |
OMIM:600081 |
| Lymphangiectasia, Intestinal |
|
Lymphopenia |
OMIM:152800 |
| Wagr Syndrome |
|
Cataract, Obesity, Scoliosis, Aplasia/Hypoplasia of the iris, Displacement of the urethral meatus |
ORPHA:893 |
| Sepsis In Premature Infants |
|
Petechiae, Leukocytosis, Decreased liver function, Hepatomegaly, Jaundice, Thrombocytopenia, Sple... |
ORPHA:90051 |
| Wilson Disease |
|
Glycosuria, Renal tubular dysfunction, Nephrolithiasis, Proteinuria, Kayser-Fleischer ring, Hyper... |
OMIM:277900 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatosplenomegaly, Leukocytosis, Anisocytosis, Chronic hemolytic anemia, Hemolytic anemia, Ellip... |
OMIM:618278 |
| Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Fava bean-induced hemolytic anemia, Cataract, Hyperbilirubinemia |
OMIM:618660 |
| Alg12-Cdg |
|
Hyponatremia, Micropenis, Hypospadias, Abnormal bone ossification, Failure to thrive, Scoliosis, ... |
ORPHA:79324 |
| Myh9-Related Disease |
|
Proteinuria, Giant platelets, Presenile cataracts, Nephritis, Nephropathy, Neutrophil inclusion b... |
ORPHA:182050 |
| Eosinophilia, Familial |
|
Eosinophilia, Leukocytosis, Thrombocytopenia, Anemia |
OMIM:131400 |
| Fumarase Deficiency |
|
Pallor, Hepatic failure, Cholestasis, Polycythemia |
OMIM:606812 |
| Cardiospondylocarpofacial Syndrome |
|
Carpal synostosis, Horseshoe kidney, Joint laxity, Failure to thrive, Scoliosis, Synostosis of ca... |
OMIM:157800 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
| Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Lymphopenia |
OMIM:207731 |
| Glycogen Storage Disease Xii |
|
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Short stature, Nonspher... |
OMIM:611881 |
| Frontometaphyseal Dysplasia 1 |
|
Increased density of long bone diaphyses, Partial fusion of tarsals, Camptodactyly of finger, Hyd... |
OMIM:305620 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Petechiae, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Anemia, Extramedullary h... |
OMIM:612840 |
| Fibrodysplasia Ossificans Progressiva |
|
Small cervical vertebral bodies, Ectopic ossification in ligament tissue, Ectopic ossification in... |
OMIM:135100 |
| Koolen-De Vries Syndrome |
|
Kyphosis, Sacral dimple, Small for gestational age, Hydronephrosis, Cataract, Joint hypermobility... |
OMIM:610443 |
| Immunodeficiency 46 |
|
Intermittent thrombocytopenia, Neutropenia, Anemia, Failure to thrive, Conjunctivitis |
OMIM:616740 |
| Hemochromatosis, Type 4 |
|
Cirrhosis, Anemia, Hepatic steatosis, Hepatomegaly |
OMIM:606069 |
| Rapidly Involuting Congenital Hemangioma |
|
Avascular necrosis, Thrombocytopenia, Lipoatrophy |
ORPHA:141184 |
| Fanconi Anemia, Complementation Group I |
|
Decreased body weight, Short neck, Horseshoe kidney, Renal hypoplasia, Astigmatism, Neutropenia, ... |
OMIM:609053 |
| Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Hypokalemia, Nephrocalcinosis, Distal renal tubular acidosis, Hypercalciuria, Failure to thrive, ... |
OMIM:602722 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Cranial hyperostosis, Pancytopenia, Diaphyseal sclerosis, Hepatosplenomegaly, Recurrent fractures... |
OMIM:259710 |
| Hypophosphatasia, Adult |
|
Recurrent fractures, Increased susceptibility to fractures, Osteomalacia, Chondrocalcinosis, Arth... |
OMIM:146300 |
| Aggressive Systemic Mastocytosis |
|
Pancytopenia, Abnormal mast cell morphology, Hepatosplenomegaly, Leukemia, Leukocytosis, Osteopor... |
ORPHA:98850 |
| Wolman Disease |
|
Hepatic failure, Splenomegaly, Hepatomegaly, Growth delay, Anemia, Bone-marrow foam cells |
ORPHA:75233 |
