| Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Pallor, Anemia |
ORPHA:46532 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia |
OMIM:205950 |
| Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:231249 |
| 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 |
|
Hepatomegaly, Reticulocytosis, Short stature, Anemia of inadequate production, Anisocytosis, Sple... |
OMIM:615631 |
| Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
| Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias |
OMIM:620044 |
| Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
| Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia |
OMIM:618849 |
| Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
| Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
| Intrinsic Factor Deficiency |
|
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio... |
OMIM:261000 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
| Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Hepatomegaly, Anemia |
ORPHA:294 |
| Hemoglobin H Disease |
|
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... |
OMIM:616689 |
| Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
| Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... |
OMIM:603902 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Anemia, Sideroblastic, 4 |
|
Abnormal erythrocyte morphology, Sideroblastic anemia |
OMIM:182170 |
| Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... |
ORPHA:232 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
| Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia, Anemia |
OMIM:206100 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... |
ORPHA:67044 |
| Myelolymphatic Insufficiency |
|
Leukopenia, Hyposegmentation of neutrophil nuclei |
OMIM:310350 |
| Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... |
ORPHA:86841 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Hepatomegaly, Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kina... |
OMIM:266200 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
| Familial Pseudohyperkalemia |
|
Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume |
ORPHA:90044 |
| Iron-Refractory Iron Deficiency Anemia |
|
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis |
OMIM:206200 |
| Diamond-Blackfan Anemia 19 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Anemia |
OMIM:618312 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Growth delay, Decreased mean corpuscular volume, Pallor, Poikilocytos... |
OMIM:615234 |
| X-Linked Sideroblastic Anemia |
|
Elevated hepatic transaminase, Splenomegaly, Pallor, Anemia |
ORPHA:75563 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis |
OMIM:247800 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... |
ORPHA:75564 |
| Immunodeficiency 24 |
|
Lymphopenia, Decreased proportion of memory B cells, Decreased CD4:CD8 ratio, Reduced proportion ... |
OMIM:615897 |
| Immunodeficiency 50 |
|
Lymphopenia, Neutropenia |
OMIM:300988 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Poikilocytosis,... |
ORPHA:98870 |
| Acute Erythroid Leukemia |
|
Anemia, Erythroid hypoplasia, Pancytopenia, Leukopenia |
ORPHA:318 |
| Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Thrombocytopenia, Hepatitis, ... |
ORPHA:848 |
| Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega... |
ORPHA:3202 |
| Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Osteopenia, Hypersplenism, Thrombocytopenia, Splenomegaly, Bone pain, Hypocholesterolemia, Anemia |
OMIM:610539 |
| Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact... |
OMIM:613424 |
| Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
| Danon Disease |
|
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Lower limb amyotrophy, Myocardial fibr... |
OMIM:300257 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Sideroblastic anemia, Growth delay, Pallor |
OMIM:613561 |
| Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia |
OMIM:617948 |
| Reticular Dysgenesis |
|
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus |
OMIM:267500 |
| Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... |
OMIM:300835 |
| Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... |
OMIM:194380 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia |
OMIM:613839 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volume |
OMIM:185000 |
| Reticuloendotheliosis, X-Linked |
|
Jaundice, Anemia, Hepatosplenomegaly |
OMIM:312500 |
| Elliptocytosis 1 |
|
Hemolytic anemia, Splenomegaly, Jaundice, Elliptocytosis, Pallor |
OMIM:611804 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphop... |
ORPHA:444463 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anisocytosis, Splenomegaly, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid hype... |
OMIM:616860 |
| Leishmaniasis |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno... |
ORPHA:507 |
| Bone Marrow Failure Syndrome 2 |
|
Leukopenia, Thrombocytopenia, Anemia |
OMIM:615715 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Anisocytosis, Decreased m... |
OMIM:616959 |
| Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Abnormal hemoglobin, Splenomegaly, Pallor, Anemia |
ORPHA:163596 |
| Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Thrombocytosis, Petechiae, Portal hyper... |
ORPHA:824 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Er... |
OMIM:617021 |
| Diamond-Blackfan Anemia 6 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:612561 |
| Acute Myelomonocytic Leukemia |
|
Eosinophilia, Leukocytosis, Anemia, Pallor, Thrombocytopenia |
ORPHA:517 |
| Forsythe-Wakeling Syndrome |
|
Delayed skeletal maturation, Osteoporosis, Nephrotic syndrome, Decreased body weight, Thrombocyto... |
OMIM:613606 |
| Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:169079 |
| Immunodeficiency 96 |
|
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume |
OMIM:619774 |
| Immunodeficiency 8 With Lymphoproliferation |
|
Lymphopenia |
OMIM:615401 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Elevated hepatic transaminase, Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Growth... |
ORPHA:300298 |
| Hereditary Spherocytosis |
|
Hepatomegaly, Reticulocytosis, Extramedullary hematopoiesis, Spontaneous hemolytic crises, Spleno... |
ORPHA:822 |
| Beta-Thalassemia Intermedia |
|
Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ... |
ORPHA:231222 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
| Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia |
ORPHA:846 |
| Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Decreased HDL cholesterol concentration, Delayed skeletal maturation, Decreased LDL cholesterol c... |
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 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Jaundice, Leukocytosis, Pallor, Poikilocytosis, Prol... |
OMIM:300908 |
| Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Inguinal hernia, Cataract, Small for gestational age, Kyphosis, Reduced bone mineral density, Del... |
OMIM:618392 |
| Majeed Syndrome |
|
Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Decreased mean corpuscula... |
OMIM:609628 |
| Hyperbilirubinemia, Shunt, Primary |
|
Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... |
OMIM:237800 |
| Microcephaly With Cervical Spine Fusion Anomalies |
|
Vertebral fusion, Spinal instability |
OMIM:251250 |
| Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... |
OMIM:617514 |
| Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
| Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
| Breath-Holding Spells |
|
Iron deficiency anemia, Pallor |
OMIM:607578 |
| Evans Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Jaundice, Neutropenia in presence of an... |
ORPHA:1959 |
| Anemia, Sideroblastic, 1 |
|
Sideroblastic anemia, Macrocytic anemia, Anemic pallor, Anemia of inadequate production, Hypochro... |
OMIM:300751 |
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... |
OMIM:277300 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
| Aldh18A1-Related De Barsy Syndrome |
|
Joint hyperflexibility, Cataract |
ORPHA:35664 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, S... |
OMIM:224120 |
| Keratoconus Posticus Circumscriptus |
|
Keratoconus, Limited elbow extension and supination, Short neck, Vesicoureteral reflux, Central p... |
OMIM:244600 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact... |
OMIM:612158 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Joint laxity, Elevated circulating creatine kinase concentration, Kyphoscoliosis, Hemolytic-uremi... |
OMIM:614727 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia, Radioulnar synostosis |
ORPHA:71289 |
| Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Retinal hemorrhage, Abnorm... |
ORPHA:86839 |
| Bardet-Biedl Syndrome 18 |
|
Renal insufficiency, Cataract, Stage 5 chronic kidney disease, Obesity |
OMIM:615995 |
| Cold Agglutinin Disease |
|
Splenomegaly, Hepatomegaly, Hemolytic anemia, Pallor |
ORPHA:56425 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Reticulocytosis, Short stature, Hepatosplenomegaly, Decreased mean corpuscular ... |
OMIM:611590 |
| Kniest Dysplasia |
|
Arthropathy, Enlarged joints, Short neck, Delayed epiphyseal ossification, Aplasia/Hypoplasia of ... |
ORPHA:485 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
| Methylcobalamin Deficiency Type Cble |
|
Macrocytic anemia, Increased mean corpuscular volume, Pancytopenia, Neutropenia |
ORPHA:2169 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Anemia |
OMIM:615285 |
| Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l... |
OMIM:619924 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Anemia, Leukopenia, Increased mean corpuscular volume, Lymphopenia, Thrombocytop... |
OMIM:127550 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left ventricular noncompaction, Dilated cardiomyopathy, Endocardial fibrosis, Left ventricular hy... |
OMIM:601493 |
| Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
| Cardiomyopathy, Dilated, 1Gg |
|
Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:613642 |
| T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
T lymphocytopenia, Abnormally low T cell receptor excision circle level |
OMIM:618806 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
| Immunodeficiency 95 |
|
Lymphopenia |
OMIM:619773 |
| Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... |
ORPHA:2064 |
| Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Antecubital pterygi... |
OMIM:618469 |
| Thrombocytopenia 2 |
|
Leukocytosis, Thrombocytopenia |
OMIM:188000 |
| Immunodeficiency 76 |
|
Splenomegaly, Lymphopenia, B lymphocytopenia, T lymphocytopenia |
OMIM:619164 |
| Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
| Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Iris coloboma, Cervical C5/C6 vertebrae fusion |
OMIM:613702 |
| Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
| Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Acute myeloid leukemia, Leukopenia, Monocytosis, Refractory anemia |
OMIM:616871 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death, Anemia, Hepatosplenomegaly |
OMIM:273680 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Vertebral fusion, Hip contracture, Inguinal hernia, Elbow contracture, Multiple pterygia, Short n... |
OMIM:178110 |
| Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... |
OMIM:617052 |
| Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia |
ORPHA:2582 |
| Intermediate Osteopetrosis |
|
Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Recurrent fractures, Cortical ... |
ORPHA:210110 |
| Multiple Synostoses Syndrome 2 |
|
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp... |
OMIM:610017 |
| Letterer-Siwe Disease |
|
Jaundice, Hepatosplenomegaly, Anemia, Pallor, Neutropenia, Thrombocytopenia |
OMIM:246400 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Cataract, 3-Methylglutaconic aciduria, Failure to thrive, Thrombocytopenia, Iris hypopigmentation |
ORPHA:67048 |
| Shwachman-Diamond Syndrome 1 |
|
Myocardial necrosis, Short stature |
OMIM:260400 |
| Congenital Atransferrinemia |
|
Abnormality of the pancreas, Anemia |
ORPHA:1195 |
| Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Increased mean corpuscular volume, Megaloblastic anemia |
OMIM:277410 |
| Niemann-Pick Disease, Type B |
|
Hepatomegaly, Short stature, Bone-marrow foam cells, Splenomegaly, Thrombocytopenia, Decreased ac... |
OMIM:607616 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral fusion, Sacral dimple, Unilateral renal agenesis, Ureteral atresia, Vertebral segmentat... |
OMIM:618845 |
| Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
| Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... |
OMIM:604169 |
| Immune Thrombocytopenia |
|
Thrombocytopenia |
OMIM:188030 |
| Left Ventricular Noncompaction 10 |
|
Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:615396 |
| Beta-Thalassemia Major |
|
Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ... |
ORPHA:231214 |
| Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612562 |
| Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis, Anemia |
OMIM:613313 |
| Acute Peripheral Arterial Occlusion |
|
Leukocytosis, Pallor |
ORPHA:90064 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Reduced level of N-acetylglucosaminyltransferase II, Anemia of inadequate produc... |
OMIM:224100 |
| Diaphanospondylodysostosis |
|
Abnormal vertebral segmentation and fusion, Multiple renal cysts, Absent or minimally ossified ve... |
ORPHA:66637 |
| Gorlin Syndrome |
|
Vertebral fusion, Cataract, Hemivertebrae, Vertebral wedging, Scoliosis, Iris coloboma |
ORPHA:377 |
| Orotic Aciduria |
|
Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemi... |
OMIM:258900 |
| Immunodeficiency 13 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
| Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Cataract, Elevated circulating creatine kinase concentration, Spinal rigidity, Hyperlordosis, Kyp... |
OMIM:617404 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Short stature, Pallor |
ORPHA:2786 |
| Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Reduced bone mineral density, Iron deficiency anemia, Abnormal bone ossification, Abn... |
ORPHA:93315 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased proportion of CD4+C... |
OMIM:619846 |
| Brachydactyly, Type B1 |
|
Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Hemivertebrae, Camptodactyly, Micr... |
OMIM:113000 |
| Bilateral Striopallidodentate Calcinosis |
|
Corneal opacity, Thrombocytopenia |
ORPHA:1980 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Joint dislocation, Coarse metaphyseal trabecularization, Osteomalacia, Recurrent fractures, Bone ... |
ORPHA:93160 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Elbow contracture, Elevated circulating creatine kinase concentration, Hyperlor... |
OMIM:606612 |
| Transcobalamin Deficiency |
|
Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia |
ORPHA:859 |
| Diamond-Blackfan Anemia 5 |
|
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Leukopenia |
OMIM:612528 |
| Irida Syndrome |
|
Intrahepatic cholestasis, Pallor |
ORPHA:209981 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoim... |
ORPHA:331206 |
| Atransferrinemia |
|
Abnormality of the liver, Hypochromic anemia |
OMIM:209300 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopenia, Splenomegal... |
OMIM:603552 |
| Chylomicron Retention Disease |
|
Failure to thrive, Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocho... |
OMIM:246700 |
| Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Myeloprolife... |
ORPHA:3226 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Conjugated hyperbilirubinemia, Splenomegaly, Rickets, Steatorrhea, Hypocholesterolemia, Failure t... |
OMIM:607765 |
| Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
| Shwachman-Diamond Syndrome |
|
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... |
ORPHA:811 |
| Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Cataract, Camptodactyly of finger, Abnormal enchondral o... |
ORPHA:2635 |
| Verheij Syndrome |
|
Joint laxity, Vertebral fusion, Small for gestational age, Short neck, Hemivertebrae, Hip disloca... |
OMIM:615583 |
| Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... |
ORPHA:124 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Short stature, Pallor, Thrombocytopenia, Megaloblastic anemia |
ORPHA:49827 |
| Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome... |
ORPHA:71275 |
| Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Short neck, Hemivertebrae, Scoliosis, Butterfly vertebrae |
OMIM:122600 |
| Peroxisome Biogenesis Disorder 3B |
|
Elevated circulating phytanic acid concentration, Osteoporosis, Steatorrhea, Failure to thrive, H... |
OMIM:266510 |
| Left Ventricular Noncompaction 8 |
|
Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:615373 |
| Dermatitis, Atopic |
|
Dry skin, Pallor, Facial erythema |
OMIM:603165 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Thrombocy... |
OMIM:617780 |
| Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Chronic lymphatic leukemia, Pallor |
ORPHA:90033 |
| Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
| Flynn-Aird Syndrome |
|
Increased bone mineral density, Cataract, Kyphoscoliosis, Joint stiffness, Osteoporosis, Increase... |
OMIM:136300 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hemophagocytosis, Granulocytopenia, Anemia, Hepatosplenomegaly |
OMIM:608898 |
| Aarskog-Scott Syndrome |
|
Inguinal hernia, Genu recurvatum, Camptodactyly of finger, Short neck, Joint hyperflexibility, Um... |
ORPHA:915 |
| Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Obesity, Joint stiffness |
ORPHA:1078 |
| Hemochromatosis, Type 3 |
|
Elevated hepatic transaminase, Cirrhosis, Neutropenia, Lymphopenia, Anemia, Purpura |
OMIM:604250 |
| Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal... |
OMIM:612690 |
| Isolated Klippel-Feil Syndrome |
|
Short neck, Abnormal sacrum morphology, Abnormality of the vertebral column, Scoliosis, Cervical ... |
ORPHA:2345 |
| Infantile Liver Failure Syndrome 1 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Macrocytic anemia, Hepatic st... |
OMIM:615438 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Lymphopenia, Thrombocytopenia |
OMIM:616744 |
| 16Q24.3 Microdeletion Syndrome |
|
Increased mean corpuscular volume, Optic nerve hypoplasia, Thrombocytopenia |
ORPHA:261250 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Neutropenia |
OMIM:615214 |
| Preeclampsia/Eclampsia 1 |
|
Proteinuria, Thrombocytopenia |
OMIM:189800 |
| Pearson Marrow-Pancreas Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Sideroblastic anemia, Pancytopenia, Pancreatic fibro... |
OMIM:557000 |
| Squalene Synthase Deficiency |
|
Hypospadias, Failure to thrive in infancy, Increased circulating farnesol concentration, Elbow fl... |
OMIM:618156 |
| Congenital Toxoplasmosis |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Anemia, Intrauterine growth retardation, T... |
ORPHA:858 |
| Potocki-Lupski Syndrome |
|
Failure to thrive, Small for gestational age, Scoliosis, Hypocholesterolemia |
OMIM:610883 |
| Schimke Immunoosseous Dysplasia |
|
Osteopenia, Short neck, Abnormal T cell morphology, Thoracic kyphosis, Neutropenia, Lumbar hyperl... |
OMIM:242900 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Growth delay, Pallor, Hypochromic a... |
OMIM:600462 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Arthritis, T lymphocytopenia, B lymphocytopenia, Conjunctivitis, Failure to thrive secondary to r... |
OMIM:601457 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microcornea, Corneal opacity, Large for gestational age |
ORPHA:2432 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Pallor, Focal pancreatic islet hyperplasia, Hepatomegaly |
ORPHA:276575 |
| Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom... |
OMIM:615008 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Elevated circulating creatine kinase concentration, Hyperlordosis, Exercise-ind... |
OMIM:607155 |
| Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Bone-marrow foam cells, Leukopenia, Hepatic fibrosis, Elevated gamma-gluta... |
OMIM:278000 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Pallor, Hepatomegaly |
ORPHA:276556 |
| Autosomal Erythropoietic Protoporphyria |
|
Microcytic anemia, Erythema, Decreased liver function, Cirrhosis, Cholelithiasis |
ORPHA:79278 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Scoliosis, Butterfly vertebrae |
ORPHA:313892 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Increased bone mineral density, Recurrent fractures, Splenomegaly, Anemia, Osteo... |
OMIM:611490 |
| 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hepatomegaly, Pallor, Anemia |
OMIM:246450 |
| Sengers Syndrome |
|
Osteopenia, Cataract, Developmental cataract, 3-Methylglutaconic aciduria, Thrombocytopenia |
OMIM:212350 |
| Kahrizi Syndrome |
|
Cataract, Elbow contracture, Knee flexion contracture, Thoracic kyphosis, Iris coloboma |
OMIM:612713 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Elbow dislocation, Limitation of joint mobility, Abnormal vertebr... |
ORPHA:90650 |
| Immunodeficiency 44 |
|
Lymphopenia |
OMIM:616636 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Hip contracture, Inguinal hernia, Kyphoscoliosis, Hyperlordosis, Accelerated skeletal maturation,... |
OMIM:618363 |
| Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia |
OMIM:242870 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Osteomyelitis, Neutrophilia, Failure to thrive in infancy, Elevated circulating C-rea... |
OMIM:612852 |
| Immunodeficiency 104 |
|
Splenomegaly, Failure to thrive secondary to recurrent infections, T lymphocytopenia |
OMIM:608971 |
| Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Red... |
OMIM:619130 |
| Systemic Lupus Erythematosus 17 |
|
Leukopenia, Lymphopenia, Thrombocytopenia, Autoimmune thrombocytopenia |
OMIM:301080 |
| Kbg Syndrome |
|
Vertebral fusion, Persistent open anterior fontanelle, Short neck, Delayed skeletal maturation, T... |
ORPHA:2332 |
| Wildervanck Syndrome |
|
Fused cervical vertebrae, Lens subluxation, Short neck |
ORPHA:3456 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Vaginal hernia, Abnormal dental enamel morphology, Elbow dislocation, Kyphosis,... |
ORPHA:2916 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly... |
ORPHA:98849 |
| Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Truncal obesity, Micropenis, Cataract, Childhood-onset truncal obesity |
OMIM:610156 |
| Amoebiasis Due To Free-Living Amoebae |
|
Myocardial necrosis, Facial palsy |
ORPHA:68 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Vertebral fusion, Inguinal hernia, Cataract, Block vertebrae, Tarsal synostosis, Hyperlordosis, S... |
OMIM:272460 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Pallor, Hepatomegaly |
ORPHA:276580 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
| Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
| Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
| Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... |
ORPHA:35858 |
| X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Fused cervical vertebrae, Abnormal sacrum morphology, Thoracic hemivertebrae, Scoliosis |
ORPHA:1436 |
| Malaria |
|
Elevated circulating C-reactive protein concentration, Thrombocytopenia, Hyperbilirubinemia, Acut... |
ORPHA:673 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Iron deficiency anemia, Pallor, Hepatosplenomegaly |
ORPHA:99931 |
| Multiple Pterygium Syndrome, X-Linked |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... |
OMIM:312150 |
| Alpha-Heavy Chain Disease |
|
Splenomegaly, Hepatomegaly, Growth delay, Anemia |
ORPHA:100025 |
| Sitosterolemia 1 |
|
Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro... |
OMIM:210250 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteopenia, Ventral hernia, Thoracic scoliosis, Inguinal hernia, Short neck, Osteoarthritis, Gene... |
OMIM:618000 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Acanthocytosis, Decreased LDL chol... |
OMIM:615558 |
| Wilson Disease |
|
Back pain, Thrombocytopenia, Splenomegaly, Bone pain, Increased body weight, Weight loss, Arthrit... |
ORPHA:905 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Short stature, Ragged-red muscle fibers, Dilated cardiomyopathy, Flexion contracture, Left ventri... |
OMIM:252011 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Autoimmune hemolytic anemia, Pallor |
ORPHA:90037 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Osteopenia, Proteinuria, Kyphosis, Abnormal subcutaneous fat tissue distribution, Flexion contrac... |
OMIM:212065 |
| Immunodeficiency 19 |
|
T lymphocytopenia, Failure to thrive, Abnormal B cell morphology, Abnormal natural killer cell mo... |
OMIM:615617 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Sandwich appearance of vertebral bodies, Increased bone mineral density, Osteomyelitis, Pancytope... |
OMIM:259700 |
| Schimke Immuno-Osseous Dysplasia |
|
Short neck, Neutropenia, Nephropathy, Nephrotic range proteinuria, Lumbar hyperlordosis, Minimal ... |
ORPHA:1830 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia, Obesity |
OMIM:608320 |
| Dent Disease |
|
Elevated circulating creatine kinase concentration, Delayed epiphyseal ossification, Bone pain, N... |
ORPHA:1652 |
| Koolen-De Vries Syndrome |
|
Vertebral fusion, Ureteral duplication, Cataract, Hypospadias, Abnormal dental enamel morphology,... |
ORPHA:96169 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Failure to thrive, Hypertriglyceridemia, Lipodystrophy, Thrombocytopenia, Splenomegaly, Flexion c... |
OMIM:617591 |
| Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphopenia, Chorioretinal coloboma |
ORPHA:1116 |
| Myelofibrosis |
|
Splenomegaly, Pallor, Myeloproliferative disorder, Purpura |
OMIM:254450 |
| Hypercholanemia, Familial 1 |
|
Failure to thrive, Rickets, Increased serum bile acid concentration, Steatorrhea |
OMIM:607748 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Neurogenic bladder, Abnormal odontoid process morphology, Block vertebrae, Shor... |
OMIM:613686 |
| Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... |
OMIM:606842 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Calcium nephrolithiasis, Enlargement of the ankles, Recurrent fractures, Abnormal circulating cal... |
OMIM:241530 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia |
OMIM:166990 |
| Transaldolase Deficiency |
|
Thrombocytopenia, Hepatosplenomegaly, Cirrhosis, Premature skin wrinkling, Anemia |
ORPHA:101028 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Enlargement of the ankles, Renal insufficiency, Osteomalacia, Recurrent fractures, Delayed epiphy... |
OMIM:300554 |
| Atypical Hemolytic Uremic Syndrome |
|
Proteinuria, Hematuria, Microangiopathic hemolytic anemia, Acute kidney injury, Thrombocytopenia |
ORPHA:2134 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Refractory anemia, Leukopenia, Thrombocytopenia |
OMIM:231095 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Pallor |
ORPHA:324575 |
| Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Hepatomegaly, Splenomegaly, Anemia, Petechiae, Purpura |
OMIM:620296 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... |
ORPHA:158057 |
| Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Osteopenia, Decreased circulating plasmalogen concentration, Cataract, Inguinal hernia, Flexion c... |
OMIM:222765 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pancreatic islet-cell hyperplasia, Pallor |
ORPHA:276608 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... |
OMIM:253290 |
| Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia |
OMIM:618963 |
| Atelis Syndrome 1 |
|
Cataract, Lumbar kyphosis, Anemia, Leukopenia, Thrombocytopenia |
OMIM:620184 |
| Dermatosparaxis Ehlers-Danlos Syndrome |
|
Osteopenia, Joint dislocation, Inguinal hernia, Abnormality of subcutaneous fat tissue, Osteomala... |
ORPHA:1901 |
| Lowe Oculocerebrorenal Syndrome |
|
Elevated circulating creatine kinase concentration, Wrist swelling, Bicarbonaturia, Aminoaciduria... |
OMIM:309000 |
| Gaucher Disease Type 1 |
|
Osteopenia, Increased bone mineral density, Pancytopenia, Proteinuria, Hypersplenism, Kyphosis, O... |
ORPHA:77259 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Hypospadias, Hyperlordosis, Short neck, Kyphosis, Abnormality of the ureter, Fused cervical verte... |
ORPHA:2522 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia, Childhood-onset truncal obesity, Obesity, Increased adipose tissue |
ORPHA:71529 |
| Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Obesity, Increased LDL cholesterol... |
OMIM:615703 |
| Amegakaryocytic Thrombocytopenia, Congenital, 1 |
|
Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia |
OMIM:604498 |
| Otopalatodigital Syndrome Type 2 |
|
Omphalocele, Increased bone mineral density, Cataract, Hypospadias, Tarsal synostosis, Camptodact... |
ORPHA:90652 |
| Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Fused cervical vertebrae, Prominent metopic ridge, Thoracic hemivertebrae, Scoliosis |
OMIM:309620 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Anemia, Osteopetrosis, Failure to thrive, Thrombocytopenia |
OMIM:615085 |
| Pseudopseudohypoparathyroidism |
|
Cataract, Short neck, Osteoporosis, Obesity, Enamel hypoplasia |
OMIM:612463 |
| Multiple Epiphyseal Dysplasia, Beighton Type |
|
Low back pain, Thoracic scoliosis, Abnormal acetabulum morphology, Cataract, Joint stiffness, Tho... |
ORPHA:166011 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating alkaline phosphatase concentrat... |
ORPHA:263455 |
| Achondrogenesis Type 2 |
|
Delayed vertebral ossification, Absent vertebral body mineralization, Cataract, Delayed proximal ... |
ORPHA:93296 |
| Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Failure to thrive, Abnormality of neutrophils, Thrombocyto... |
ORPHA:229717 |
| Dent Disease 1 |
|
Delayed epiphyseal ossification, Bone pain, Nephrocalcinosis, Aminoaciduria, Low-molecular-weight... |
OMIM:300009 |
| Protoporphyria, Erythropoietic, 1 |
|
Cholelithiasis, Erythema, Hepatic failure, Hemolytic anemia |
OMIM:177000 |
| Combined Oxidative Phosphorylation Deficiency 31 |
|
Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Left ventricular non... |
OMIM:617228 |
| Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Pallor |
OMIM:612989 |
| Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia |
ORPHA:2688 |
| Preeclampsia |
|
Increased body mass index, Proteinuria, Small for gestational age, Chronic kidney disease, Elevat... |
ORPHA:275555 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Cervical C2/C3 vertebral fusion, Fused cervical vertebrae, Scoliosis, Short neck |
OMIM:214300 |
| Baralle-Macken Syndrome |
|
Kyphosis, Cataract, Urinary incontinence, Obesity |
OMIM:619255 |
| Folate Malabsorption, Hereditary |
|
Folate-responsive megaloblastic anemia, Leukopenia, Neutropenia, Failure to thrive, Thrombocytopenia |
OMIM:229050 |
| Ring Chromosome 21 Syndrome |
|
Fused thoracic vertebrae, Thoracic hemivertebrae, Scoliosis |
ORPHA:1445 |
| Wt Limb-Blood Syndrome |
|
Pancytopenia, Radioulnar synostosis, Joint contracture of the 5th finger, Leukemia, Hypoplastic a... |
OMIM:194350 |
| Sepsis In Premature Infants |
|
Hepatomegaly, Petechiae, Splenomegaly, Jaundice, Leukocytosis, Thrombocytopenia, Decreased liver ... |
ORPHA:90051 |
| Mu-Heavy Chain Disease |
|
Splenomegaly, Hepatomegaly, Abnormal B cell count, Anemia |
ORPHA:100024 |
| Specific Granule Deficiency 2 |
|
Osteopenia, Absent neutrophil specific granules, Anemia, Neutropenia, Failure to thrive, Thromboc... |
OMIM:617475 |
| Koolen-De Vries Syndrome |
|
Vertebral fusion, Prominent metopic ridge, Sacral dimple, Iris hypopigmentation, Cataract, Small ... |
OMIM:610443 |
| Abetalipoproteinemia |
|
Osteopenia, Decreased HDL cholesterol concentration, Reticulocytosis, Failure to thrive, Kyphosco... |
ORPHA:14 |
| Phosphoglycerate Dehydrogenase Deficiency |
|
Megaloblastic anemia, Thrombocytopenia, Developmental cataract |
OMIM:601815 |
| Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... |
OMIM:105650 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Anisocytosis |
OMIM:604273 |
| Alkaptonuria |
|
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Elevated urinary homogentisic acid, Nephr... |
OMIM:203500 |
| Alg12-Cdg |
|
Hyponatremia, Hypospadias, Ulnar deviation of the wrist, Thrombocytopenia, Hypoalbuminemia, B lym... |
ORPHA:79324 |
| Stormorken-Sjaastad-Langslet Syndrome |
|
Asplenia, Short stature, Anemia, Purpura |
ORPHA:3204 |
| Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Abnormal intervertebral disk morphology, Cataract, Joint stiffness, Osteoarthritis, Platyspondyly... |
ORPHA:1345 |
| Lateral Meningocele Syndrome |
|
Vertebral fusion, Neurogenic bladder, Inguinal hernia, Short neck, Kyphosis, Keloids, Sclerosis o... |
OMIM:130720 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg... |
OMIM:613101 |
| Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... |
OMIM:619802 |
| Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Renal insufficiency, Proteinuria, Recurrent fractures, Osteomalacia, Bone pain, Ricke... |
OMIM:613388 |
| Alpha-Mannosidosis |
|
Craniofacial hyperostosis, Inguinal hernia, Cataract, Corneal opacity, Short neck, Kyphosis, Dela... |
ORPHA:61 |
| Primary Lateral Sclerosis, Juvenile |
|
Pallor |
OMIM:606353 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... |
OMIM:241520 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Nonspherocytic h... |
OMIM:235700 |
| Immunodeficiency 46 |
|
Intermittent thrombocytopenia, Conjunctivitis, Neutropenia, Failure to thrive, Anemia |
OMIM:616740 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Joint laxity, Short neck, Multiple joint dislocation, Hip dislocation, Obesity, Irregular vertebr... |
OMIM:618395 |
| Summitt Syndrome |
|
Obesity, Craniosynostosis |
OMIM:272350 |
| Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Fava bean-induced hemolytic anemia, Cataract, Hyperbilirubinemia |
OMIM:618660 |
| Martsolf Syndrome 2 |
|
Cataract, Camptodactyly of finger, Developmental cataract, Decreased body weight, Camptodactyly |
OMIM:619420 |
| Roch-Leri Mesosomatous Lipomatosis |
|
Multiple lipomas, Thrombocytopenia |
ORPHA:529 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Enlargement of the ankles, Recurrent fractures, Delayed epiphyseal ossification, Enlargement of t... |
OMIM:600081 |
| Temple Syndrome |
|
Hypertriglyceridemia, Small for gestational age, Overweight, Flexion contracture, Obesity, Trunca... |
OMIM:616222 |
| Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
| Ankylosing Vertebral Hyperostosis With Tylosis |
|
Osteoarthritis, Abnormality of the vertebral column, Obesity |
ORPHA:2206 |
| Hypophosphatemic Rickets, Autosomal Dominant |
|
Osteomalacia, Bone pain, Rickets, Renal phosphate wasting, Hypophosphatemia, Hypophosphatemic ric... |
OMIM:193100 |
| Stuve-Wiedemann Syndrome 2 |
|
Thrombocytopenia, Scoliosis, Camptodactyly |
OMIM:619751 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Thrombocytopenia, Chronic neutropenia, Anemia |
OMIM:619302 |
| Combined Oxidative Phosphorylation Deficiency 20 |
|
Hypertrophic cardiomyopathy, Left ventricular noncompaction |
OMIM:615917 |
| Senior-Loken Syndrome 8 |
|
Pancreatic cysts, Pallor, Hepatic cysts, Intrahepatic bile duct dilatation |
OMIM:616307 |
| Stiff Skin Syndrome |
|
Cataract, Lipodystrophy, Elbow flexion contracture, Limited shoulder movement, Knee flexion contr... |
OMIM:184900 |
| Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Lymphopenia |
OMIM:207731 |
| Myh9-Related Disease |
|
Renal insufficiency, Proteinuria, Increased mean platelet volume, Giant platelets, Neutrophil inc... |
ORPHA:182050 |
| Wagr Syndrome |
|
Cataract, Obesity, Aplasia/Hypoplasia of the iris, Scoliosis, Displacement of the urethral meatus |
ORPHA:893 |
| Chylomicron Retention Disease |
|
Hypertriglyceridemia, Acanthocytosis, Steatorrhea, Failure to thrive, Hypocholesterolemia |
ORPHA:71 |
| Lymphangiectasia, Intestinal |
|
Lymphopenia |
OMIM:152800 |
| Vitamin B12-Responsive Methylmalonic Acidemia |
|
Hepatomegaly, Anemia |
ORPHA:28 |
| Wolman Disease |
|
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Growth delay, Hepatic failure, Anemia |
ORPHA:75233 |
| Hepatoportal Sclerosis |
|
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po... |
ORPHA:64743 |
| Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Rickets, Hypercalciuria, Nephrocalcinosis, Hypokalemia, Distal renal tubular acidosis, Failure to... |
OMIM:602722 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Recurrent fractures, Mandibular osteom... |
OMIM:259710 |
| Eosinophilia, Familial |
|
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Delayed epiphyseal ossification, Rickets, Genu varum, Genu valgum, Sparse bone trabeculae, Genera... |
OMIM:600785 |
| Larsen Syndrome |
|
Joint laxity, Vertebral fusion, Corneal opacity, Cervical kyphosis, Elbow dislocation, Dislocated... |
OMIM:150250 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Petechiae, Splenomegaly, Leukocytosis, Hepatosplenome... |
OMIM:612840 |
| Fanconi Anemia, Complementation Group I |
|
Short neck, Renal hypoplasia, Horseshoe kidney, Fused cervical vertebrae, Astigmatism, Neutropeni... |
OMIM:609053 |
| Cyclic Vomiting Syndrome |
|
Growth delay, Pallor |
OMIM:500007 |
| Hypophosphatasia, Adult |
|
Arthropathy, Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, P... |
OMIM:146300 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased... |
OMIM:615513 |
| Aggressive Systemic Mastocytosis |
|
Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Bone pain, Osteolysis, Osteoporosis,... |
ORPHA:98850 |
| Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Thrombocytopenia, Acute myelomonocytic leukemia, Ankle clonus, Neutropenia, Hypopla... |
OMIM:159550 |
| Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
| Microtriplication 11Q24.1 |
|
Joint dislocation, Keratoconus, Short neck, Hyperlipidemia, Limitation of joint mobility, Obesity... |
ORPHA:289522 |
| Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Cataract, Recurrent fractures, Delayed skeletal maturation, Osteoporosis, Reduced bone mineral de... |
ORPHA:2410 |
| Frontometaphyseal Dysplasia 1 |
|
Hydroureter, Interphalangeal joint contracture of finger, Limited elbow movement, Ankle flexion c... |
OMIM:305620 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Hypomethioninemia, Inguinal hernia, Delayed skeletal maturation, Methylma... |
OMIM:614857 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
| Senior-Loken Syndrome |
|
Cataract, Chronic kidney disease, Stage 5 chronic kidney disease, Abnormality of bone mineral den... |
ORPHA:3156 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
T lymphocytopenia, Lymphopenia, B lymphocytopenia |
ORPHA:277 |
| Cystinosis |
|
Renal insufficiency, Corneal opacity, Proteinuria, Rickets, Renal tubular dysfunction, Aminoacidu... |
ORPHA:213 |
| American Trypanosomiasis |
|
Splenomegaly, Hepatomegaly, Pallor |
ORPHA:3386 |
| Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Failure to thrive, Elevated circulating C-reactive protein concentration, Increased... |
OMIM:616050 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Patent ductus arteriosus, Hypertrophic cardiomyopathy, Left ventricular noncompaction |
OMIM:616501 |
| Hemochromatosis, Type 4 |
|
Anemia, Hepatomegaly, Hepatic steatosis, Cirrhosis |
OMIM:606069 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Omphalocele, Increased body mass index, Congenital hip dislocation, Delayed skeletal maturation, ... |
OMIM:614450 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean... |
OMIM:618278 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Pancytopenia, Impaired neutrophil chemotaxis, Neutropenia, Hepatosplenomegaly, Leukopenia, T lymp... |
OMIM:618986 |
| Felty Syndrome |
|
Thrombocytopenia, Abnormal joint morphology, Limitation of joint mobility, Splenomegaly, Osteolys... |
ORPHA:47612 |
| Thrombotic Thrombocytopenic Purpura |
|
Reticulocytosis, Renal insufficiency, Proteinuria, Hematuria, Microangiopathic hemolytic anemia, ... |
ORPHA:54057 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Thrombocytopenia, Radioulnar synostosis, Neutropenia, Congenital thrombocytopenia, Anemia, Limite... |
OMIM:616738 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Pancytopenia, Proteinuria, Polyuria, Renal salt wasting, Thrombocytopenia, Chronic ... |
OMIM:613845 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Osteopenia, Thoracic scoliosis, Multiple joint contractures, Cataract, Hypospadias, Small for ges... |
ORPHA:2959 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Lipodystrophy, Elevated circulating C-reactive protein concentration, B ... |
OMIM:618048 |
| Diffuse Neonatal Hemangiomatosis |
|
Thrombocytopenia, Hepatomegaly, Patent ductus arteriosus, Anemia |
ORPHA:2123 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Hyperphosphaturia, Osteomalacia, Bone pain, Rickets, Iron deficiency anemia, Hypocalcemia, Hypoph... |
ORPHA:89937 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp... |
ORPHA:169154 |
| Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Unilateral renal agenesis, Short neck, Scoliosis, Cervical C2/C3 vertebral fusion, Abnormal verte... |
OMIM:118100 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Increased bone mineral density, Cataract, Ovoid vertebral bodies, Short neck, Abnormality of the ... |
ORPHA:163649 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Enlargement of the ankles, Thin bony cortex, Recurrent fractures, Delayed epiphyseal ossification... |
OMIM:264700 |
| X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Osteomyelitis, Thrombocytopenia, Cellulitis, Weight loss, ... |
ORPHA:47 |
| Propionic Acidemia |
|
Pancytopenia, Increased level of hippuric acid in urine, Thrombocytopenia, Osteoporosis, Hypergly... |
OMIM:606054 |
| Pelger-Huet Anomaly |
|
Abnormality of neutrophils, Kyphosis, Hyposegmentation of neutrophil nuclei, Giant platelets, Neu... |
OMIM:169400 |
| Fibrodysplasia Ossificans Progressiva |
|
Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ectopic ossificatio... |
OMIM:135100 |
| Rapidly Involuting Congenital Hemangioma |
|
Avascular necrosis, Lipoatrophy, Thrombocytopenia |
ORPHA:141184 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormality of renal excretion, Bone pain, Enthesitis, Hypocalcemic tetany, Hypophosphatemic rick... |
ORPHA:289176 |
| Glycogen Storage Disease Xii |
|
Normocytic anemia, Hepatomegaly, Increased circulating lactate dehydrogenase concentration, Short... |
OMIM:611881 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Jaundice, Leukocytosis, Lipid ac... |
ORPHA:20 |
| Caudal Regression Syndrome |
|
Ureteral duplication, Renal insufficiency, Joint stiffness, Ectopic kidney, Aplasia/Hypoplasia of... |
ORPHA:3027 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Enlargement of the ankles, Wide cranial sutures, Thin bony cortex, Osteomalacia, Delayed epiphyse... |
ORPHA:289157 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentratio... |
ORPHA:98855 |
| Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Micropenis, Hypocholesterolemia, Developmental cataract |
OMIM:618810 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Corneal opacity, Hypospadias, Craniosynostosis, Elevated circulating creatine kinase concentratio... |
OMIM:301056 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Osteomalacia, Abnormal circulating calcium concentration, Osteoarthritis, Enamel hypomineralizati... |
OMIM:307800 |
| Noonan Syndrome 12 |
|
Lymphopenia, Spinal canal stenosis, Thrombocytopenia |
OMIM:618624 |
| Alg8-Cdg |
|
Hyponatremia, Cataract, Small for gestational age, Abnormality of subcutaneous fat tissue, Anemia... |
ORPHA:79325 |
| Formiminoglutamic Aciduria |
|
Abnormal circulating enzyme concentration or activity, Anemia, Megaloblastic anemia |
ORPHA:51208 |
| Autosomal Recessive Stickler Syndrome |
|
Cataract, Genu valgum, Irregular vertebral endplates, Platyspondyly, Joint hyperflexibility, Asti... |
ORPHA:250984 |
| Babesiosis |
|
Hemolytic anemia, Renal insufficiency, Splenomegaly, Limitation of joint mobility, Leukopenia, Th... |
ORPHA:108 |
| Aicardi-Goutieres Syndrome 3 |
|
Thrombocytopenia, Hepatosplenomegaly |
OMIM:610329 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Pancytopenia, Lymphopenia, Abnormally low T cell receptor excision circle level |
OMIM:619767 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Cataract, Hyperlordosis, Kyphosis, Delayed skeletal maturation, Obesity, Keloids |
ORPHA:3085 |
| Mevalonic Aciduria |
|
Normocytic hypoplastic anemia, Cataract, Failure to thrive in infancy, Elevated circulating creat... |
OMIM:610377 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Flexion contracture, Kn... |
OMIM:265000 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele... |
OMIM:187800 |
| Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Abnormal hip joint morphology, Cataract, Ovoid vertebral bodies, Abnormality of the vertebral end... |
ORPHA:1856 |
| Pancreatic Lipase Deficiency |
|
Hypocholesterolemia, Steatorrhea |
OMIM:614338 |
| Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Thoracolumbar scoliosis, Short neck, Flexion contracture, Cervical C2/C3 vertebral fusion, Acetab... |
OMIM:616549 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Anemia, Growth delay, Neutropenia, Pancreatitis, Thrombocytopenia |
ORPHA:289916 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Neurogenic bladder, Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Aca... |
ORPHA:96180 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Renal insufficiency, Thrombocytopenia, Splenomegaly, Hyperammonemia, Neutropenia, Failure to thri... |
ORPHA:79312 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:348 |
| Fanconi Anemia, Complementation Group G |
|
Thrombocytopenia, Leukemia, Anemia, Neutropenia |
OMIM:614082 |
| Ruijs-Aalfs Syndrome |
|
Thoracic kyphoscoliosis, Cataract, Lipodystrophy, Delayed skeletal maturation, Posterior subcapsu... |
OMIM:616200 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Thrombocytopenia, Lymphopenia, Anemia |
OMIM:620365 |
| Congenital Heart Block |
|
Intrauterine growth retardation, Patent ductus arteriosus, Pallor |
ORPHA:60041 |
| Linear Verrucous Nevus Syndrome |
|
Cataract, Genu recurvatum, Reduced bone mineral density, Abnormal cornea morphology, Scoliosis, H... |
ORPHA:2611 |
| Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Lumbar hyperlordosis, Small for gestational age, Overweight, Astigmatism, Lumbar scoliosis, Cervi... |
OMIM:617796 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density, Obesity, Tall stature |
OMIM:618406 |
| Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Micronodular cirrhosis, Patent ductus arteriosus, Throm... |
OMIM:606003 |
| Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Cataract, Thromb... |
OMIM:612394 |
| Galactokinase Deficiency |
|
Cataract, Small for gestational age, Hepatosplenomegaly, Increased level of galactitol in plasma,... |
ORPHA:79237 |
| Neonatal Lupus Erythematosus |
|
Elevated hepatic transaminase, Hepatomegaly, Hemolytic anemia, Pancytopenia, Aplastic anemia, Spl... |
ORPHA:398124 |
| Hermansky-Pudlak Syndrome 9 |
|
Leukopenia, Thrombocytopenia |
OMIM:614171 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentratio... |
ORPHA:98863 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... |
OMIM:267700 |
| Wildervanck Syndrome |
|
Fused cervical vertebrae |
OMIM:314600 |
| Schwartz-Jampel Syndrome, Type 1 |
|
Hip contracture, Inguinal hernia, Lumbar hyperlordosis, Congenital hip dislocation, Cervical kyph... |
OMIM:255800 |
| Immunodeficiency 85 And Autoimmunity |
|
Failure to thrive in infancy, Oligoarthritis, T lymphocytopenia, Decreased proportion of CD4-posi... |
OMIM:619510 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Splenomegaly, Leukopenia, Lymphopenia |
OMIM:620210 |
| Fanconi Renotubular Syndrome 1 |
|
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Osteoma... |
OMIM:134600 |
| Spontaneous Periodic Hypothermia |
|
Pallor |
ORPHA:29822 |
| Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome |
|
Thoracic kyphoscoliosis, Cataract, Hip dislocation, Spinal canal stenosis, Genu valgum, Developme... |
ORPHA:436174 |
| Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Posterior lenticonus, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma |
ORPHA:231736 |
| Renal Tubular Acidosis, Distal, 1 |
|
Impaired urinary acidification, Osteomalacia, Distal renal tubular acidosis, Elevated circulating... |
OMIM:179800 |
| Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Thrombocytopenia |
OMIM:614493 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Hypercholesterolemia, Joint hypermobility, Scoliosis, Obesity |
ORPHA:254531 |
| Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Hyperphosphaturia, Osteomalacia, Increased circulating beta-C-terminal telopeptide concentration,... |
ORPHA:157215 |
| Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Osteopenia, Dorsocervical fat pad, Osteoporosis, Increased body weight, Increased circulating cor... |
OMIM:615830 |
| Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Postn... |
ORPHA:288 |
| Flynn-Aird Syndrome |
|
Cataract, Cachexia, Joint stiffness, Kyphosis, Bone cyst, Scoliosis |
ORPHA:2047 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... |
OMIM:619271 |
| Megalocornea |
|
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
| Chromosome 8Q22.1 Duplication Syndrome |
|
Enlarged interphalangeal joints, Genu recurvatum, Interphalangeal joint contracture of finger, Jo... |
OMIM:151200 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Thoracic scoliosis, Renal insufficiency, Hypospadias, Failure to thrive in infancy, K... |
OMIM:611209 |
| Carpenter Syndrome |
|
Kyphoscoliosis, Craniosynostosis, Obesity, Genu valgum, Abnormal cornea morphology, Polysplenia, ... |
ORPHA:65759 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Thrombocytopenia, Macrothrombocytopenia, Anemia |
OMIM:616176 |
| Pseudohypoparathyroidism, Type Ia |
|
Cataract, Short neck, Osteoporosis, Obesity, Subcutaneous ossification, Hyperphosphatemia, Low ur... |
OMIM:103580 |
| Macrophage Activation Syndrome |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Thromb... |
ORPHA:158061 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Vertebral fusion, Unilateral renal agenesis, Ectopic kidney, Abnormal sacrum morphology, Abnormal... |
ORPHA:3109 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Macrothrombocytopenia, Gia... |
OMIM:155100 |
| Congenital Rubella Syndrome |
|
Cataract, Corneal opacity, Splenomegaly, Aplasia/Hypoplasia of the iris, Anemia, Thrombocytopenia |
ORPHA:290 |
| Basal Cell Nevus Syndrome 1 |
|
Vertebral fusion, Cataract, Kyphoscoliosis, Irregular ossification of hand bones, Hemivertebrae, ... |
OMIM:109400 |
| Hereditary Folate Malabsorption |
|
Pancytopenia, Eosinophilia, Megaloblastic anemia, Pallor, Thrombocytopenia |
ORPHA:90045 |
| Immunodeficiency 32B |
|
Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burst, Hypoalbumin... |
OMIM:226990 |
| Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Pallor, Neutropenia, Decreased proportion ... |
ORPHA:101096 |
| Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis |
OMIM:182900 |
| Pseudohypoparathyroidism, Type Ic |
|
Cataract, Short neck, Osteoporosis, Obesity, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic ... |
OMIM:612462 |
| Waldenström Macroglobulinemia |
|
Normocytic anemia, Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Pallor, Leukemia, Purpura |
ORPHA:33226 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Enlargement of the ankles, Thin bony cortex, Recurrent fractures, Delayed epiphyseal ossification... |
OMIM:277440 |
| Spondylo-Ocular Syndrome |
|
Abnormal intervertebral disk morphology, Aplasia/Hypoplasia of the lens, Cataract, Short neck, Os... |
ORPHA:85194 |
| Aicardi-Goutieres Syndrome 5 |
|
Arthropathy, Flexion contracture, Thrombocytopenia |
OMIM:612952 |
| Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentratio... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentratio... |
ORPHA:98853 |
| Tangier Disease |
|
Hypertriglyceridemia, Corneal opacity, Thrombocytopenia, Hepatosplenomegaly, Hypocholesterolemia,... |
ORPHA:31150 |
| Fanconi-Bickel Syndrome |
|
Osteopenia, Hyperphosphaturia, Hypertriglyceridemia, Rickets, Hypercalciuria, Generalized aminoac... |
ORPHA:2088 |
| Refractory Anemia |
|
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... |
ORPHA:98826 |
| Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
| Frontometaphyseal Dysplasia |
|
Limited elbow movement, Spina bifida occulta, Wrist flexion contracture, Dislocated radial head, ... |
ORPHA:1826 |
| Plummer-Vinson Syndrome |
|
Iron deficiency anemia, Pallor, Hypochromic microcytic anemia |
ORPHA:54028 |
| Porphyria, Congenital Erythropoietic |
|
Osteopenia, Hemolytic anemia, Splenomegaly, Red urine, Osteolysis, Corneal scarring, Atypical sca... |
OMIM:263700 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cells, Decreased... |
OMIM:616005 |
| Fanconi-Bickel Syndrome |
|
Reduced subcutaneous adipose tissue, Hyperphosphaturia, Ketonuria, Proteinuria, Osteomalacia, Hyp... |
OMIM:227810 |
| Combined Oxidative Phosphorylation Deficiency 40 |
|
Neonatal death, Intrauterine growth retardation, Decreased liver function, Anemia |
OMIM:618835 |
| Infantile Systemic Hyalinosis |
|
Osteopenia, Osteomalacia, Recurrent fractures, Short neck, Camptodactyly of finger, Joint stiffne... |
ORPHA:2176 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Overweight, Cervical C2/C3 vertebral fusion |
ORPHA:370010 |
| Combined Oxidative Phosphorylation Deficiency 42 |
|
Neonatal death, Intrauterine growth retardation, Decreased liver function, Anemia |
OMIM:618839 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia |
OMIM:124900 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Extramedullary hematopoiesis, Conjugated hyperbilirubinemia, Rickets, Renal cyst, Ste... |
ORPHA:79303 |
| Immunodeficiency 91 And Hyperinflammation |
|
Renal insufficiency, Membranoproliferative glomerulonephritis, Neutrophilia, Elevated circulating... |
OMIM:619644 |
| Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Wide cranial sutures, Congenital hip dislocation, Cataract, Inguinal hernia, Hypoargininemia, Del... |
OMIM:219150 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Inguinal hernia, Block vertebrae, Short neck, Hemivertebrae, Urethral atresia, ... |
OMIM:271520 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Obesity, Craniosynostosis |
ORPHA:88643 |
| Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:616649 |
| Osteopetrosis, Autosomal Dominant 3 |
|
Splenomegaly, Hepatomegaly, Anemia |
OMIM:618107 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hyperphosphaturia, Proteinuria, Hypouricemia, Large for gestational age, Rickets, Hypophosphatemi... |
OMIM:616026 |
| Tyrosinemia Type 1 |
|
Splenomegaly, Generalized aminoaciduria, Rickets of the lower limbs |
ORPHA:882 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Vertebral fusion, Sacral dimple, Inguinal hernia, Cranio... |
OMIM:213980 |
| Platelet Signal Processing Defect |
|
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... |
OMIM:173590 |
| Laurence-Moon Syndrome |
|
Renal insufficiency, Hypoplasia of penis, Cataract, Obesity, Displacement of the urethral meatus,... |
ORPHA:2377 |
| Zika Virus Disease |
|
Ankle swelling, Wrist swelling, Arthritis, Conjunctivitis, Lens subluxation, Iris coloboma, Throm... |
ORPHA:448237 |
| Retinitis Pigmentosa 51 |
|
Pallor |
OMIM:613464 |
| Rhizomelic Chondrodysplasia Punctata |
|
Cataract, Limitation of joint mobility, Epiphyseal stippling, Scoliosis, Spina bifida occulta |
ORPHA:177 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Osteopenia, Conjugated hyperbilirubinemia, Splenomegaly, Rickets, Failure to thrive |
OMIM:211600 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Ketonuria, Large for gestational age, Anemia, Aminoaciduria, Neutropenia, Umbilical hernia, Failu... |
OMIM:614520 |
| Acro-Renal-Ocular Syndrome |
|
Vertebral fusion, Cataract, Radial club hand, Horseshoe kidney, Microcornea, Bladder diverticulum... |
ORPHA:959 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... |
OMIM:242700 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Eunuchoid habitus, Hypoplasia of penis, Short neck, Hemivertebrae, Obesity, Abnormal form of the ... |
ORPHA:2234 |
| Familial Congenital Mirror Movements |
|
Fused cervical vertebrae |
ORPHA:238722 |
| Galactosemia I |
|
Hemolytic anemia, Cataract, Increased level of galactitol in plasma, Albuminuria, Aminoaciduria, ... |
OMIM:230400 |
| Prolidase Deficiency |
|
Hepatomegaly, Petechiae, Elevated circulating aspartate aminotransferase concentration, Splenomeg... |
OMIM:170100 |
| Duane Retraction Syndrome |
|
Central heterochromia, Short neck, Ectopic kidney, Abnormal pupil morphology, Spina bifida occult... |
ORPHA:233 |
| Sea-Blue Histiocyte Disease |
|
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis |
OMIM:269600 |
| Renal Tubular Acidosis Iii |
|
Osteomalacia, Rickets, Nephrolithiasis, Bicarbonate-wasting renal tubular acidosis, Nephrocalcino... |
OMIM:267200 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Pallor |
ORPHA:90036 |
| Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Cataract, Recurrent fractures, Rickets, Stage 5 chronic kidney disease, Renal Fanconi syndrome, G... |
OMIM:268315 |
| Lysinuric Protein Intolerance |
|
Osteopenia, Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Renal fibrosis... |
ORPHA:470 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Increased mean platelet volume, Enamel hypomineralization, Iron deficiency anemia, Neutropenia, T... |
ORPHA:494444 |
| Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:612653 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Short neck, Thrombocytopenia, Elevated circulating creatinine concentration, Hypoalbuminemia, Cam... |
OMIM:608104 |
| Summitt Syndrome |
|
Prominent metopic ridge, Camptodactyly of finger, Craniosynostosis, Obesity, Genu valgum, Tall st... |
ORPHA:3210 |
| Urban-Rogers-Meyer Syndrome |
|
Hypoplasia of penis, Recurrent fractures, Camptodactyly of finger, Short neck, Kyphosis, Osteopor... |
ORPHA:3409 |
| Rhabdoid Tumor |
|
Hypercalcemia, Weight loss, Hematuria, Anemia, Thrombocytopenia |
ORPHA:69077 |
| Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities |
|
Thrombocytopenia, Failure to thrive, Scoliosis |
OMIM:616577 |
| Kaufman Oculocerebrofacial Syndrome |
|
Congenital hip dislocation, Ovoid vertebral bodies, Microcornea, Astigmatism, Hypocholesterolemia... |
OMIM:244450 |
| Cog4-Cdg |
|
Hypercholesterolemia, Failure to thrive in infancy, Thrombocytopenia, Hepatosplenomegaly |
ORPHA:263501 |
| Systemic Lupus Erythematosus |
|
Hemolytic anemia, Lupus nephritis, Arthritis, Leukopenia, Nephritis, Thrombocytopenia |
OMIM:152700 |
| Cerebrooculofacioskeletal Syndrome 2 |
|
Cataract, Small for gestational age, Camptodactyly of finger, Kyphoscoliosis, Developmental catar... |
OMIM:610756 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Lumbar hyperlordosis, Kyphoscoliosis, Autoimmune thrombocytopenia, Increased intervertebral space... |
OMIM:607944 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Osteoporosis, Increased body weight, Increased circulating cort... |
OMIM:615954 |
| Aicardi-Goutieres Syndrome 6 |
|
Splenomegaly, Hemolytic anemia, Thrombocytopenia |
OMIM:615010 |
| Axial Osteomalacia |
|
Increased bone mineral density, Elevated circulating creatine kinase concentration, Osteomalacia,... |
OMIM:109130 |
| Fetal Parvovirus Syndrome |
|
Thrombocytopenia, Anemia |
ORPHA:295 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Stage 5 chronic kidney disease, Hyperammonemia, Methylmalonic aciduria, T... |
OMIM:251000 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hypoammonemia, Abnormal pupil morphology, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Le... |
ORPHA:534 |
| Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Polyuria, Osteoporosis, Rickets, Proximal tubulopathy, Failure to thrive |
OMIM:560000 |
| Lymphoproliferative Syndrome 1 |
|
Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... |
OMIM:613011 |
| Noonan Syndrome 4 |
|
Ureteral duplication, Short neck, Large for gestational age, Delayed skeletal maturation, Blue ir... |
OMIM:610733 |
| Pyropoikilocytosis, Hereditary |
|
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis |
OMIM:266140 |
| Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... |
OMIM:617237 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
| Mccune-Albright Syndrome |
|
Hyperphosphaturia, Pancytopenia, Recurrent fractures, Osteomalacia, Accelerated skeletal maturati... |
ORPHA:562 |
| Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Cataract, Hypospadias, Sclerocornea, Hemivertebrae, Micropenis, Butterfly verte... |
OMIM:206900 |
| Desbuquois Dysplasia 1 |
|
Joint dislocation, Joint laxity, Phalangeal dislocation, Short neck, Hyperlordosis, Kyphosis, Ost... |
OMIM:251450 |
| Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Hydroureter, Megaloblastic anemia, Neutropenia, Hydronephrosis, Thrombocyto... |
OMIM:598500 |
| Dubowitz Syndrome |
|
Sacral dimple, Inguinal hernia, Hypospadias, Aplastic anemia, Delayed skeletal maturation, Hypopl... |
OMIM:223370 |
| Hepatic Veno-Occlusive Disease |
|
Renal insufficiency, Increased body weight, Increased total bilirubin |
ORPHA:890 |
| Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Elbow dislocation, Anterior vertebral fusion, Radioulnar synostosis, Shoulder dislocation, Asymme... |
OMIM:171480 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Elevated hepatic transaminase, Neutrophilia, Liver abscess, Abnormality of the pancreas, Anemia |
ORPHA:54251 |
| Pseudo-Torch Syndrome 1 |
|
Renal insufficiency, Cataract, Splenomegaly, Opacification of the corneal stroma, Umbilical herni... |
OMIM:251290 |
| Thyrocerebrorenal Syndrome |
|
Renal insufficiency, Nephritis, Thrombocytopenia |
ORPHA:3327 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Increased circu... |
OMIM:619313 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,... |
ORPHA:486 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Sacral dimple, Inguinal hernia, Large for gestational age, Kyphosis, Overgrowth, Umbilical hernia... |
OMIM:618272 |
| Mirage Syndrome |
|
Hyponatremia, Hypospadias, Thrombocytopenia, Radial club hand, Hyperkalemia, Leukopenia, Micropha... |
OMIM:617053 |
| Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Failure to thrive,... |
OMIM:300400 |
| Gray Platelet Syndrome |
|
Splenomegaly, Abnormality of thrombocytes, Thrombocytopenia |
ORPHA:721 |
| Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Anemia, Leukopenia, Failure to thrive, Thrombocytopenia |
OMIM:619151 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal T cell morphology, Decreased p... |
ORPHA:760 |
| Morgagni-Stewart-Morel Syndrome |
|
Osteoarthritis, Osteoporosis, Obesity, Hyperostosis frontalis interna, Hyperuricemia, Hypercholes... |
ORPHA:77296 |
| Fanconi Renotubular Syndrome 3 |
|
Hyperphosphaturia, Rickets, Elevated circulating creatinine concentration, Glycosuria, Aminoacidu... |
OMIM:615605 |
| Farber Disease |
|
Abnormality of the knee, Corneal opacity, Thrombocytopenia, Flexion contracture, Osteoporosis, Ab... |
ORPHA:333 |
| Gaucher Disease, Type Iii |
|
Splenomegaly, Pancytopenia, Thrombocytopenia, Decreased body weight |
OMIM:231000 |
| Kniest Dysplasia |
|
Hip contracture, Inguinal hernia, Enlarged joints, Cataract, Short neck, Delayed epiphyseal ossif... |
OMIM:156550 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Urethral stricture, Pancytopenia, Failure to thrive, Aplastic anemia, Osteoporosis, Leukopenia, N... |
OMIM:613989 |
| Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Leukocytosis, Thrombocytosis, Pallor |
ORPHA:134 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Inguinal hernia, Short neck, Kyphosis, Obesity, Scoliosis, Abnormal circulating lipid concentrati... |
ORPHA:3191 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... |
OMIM:314050 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p... |
OMIM:603909 |
| Gamma-Heavy Chain Disease |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopenia, Osteoly... |
ORPHA:100026 |
| Lysinuric Protein Intolerance |
|
Failure to thrive, Hypolysinemia, Recurrent fractures, Increased circulating ferritin concentrati... |
OMIM:222700 |
| Hypophosphatemic Bone Disease |
|
Rickets, Osteomalacia, Hypophosphatemia |
OMIM:146350 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Glomerulonephritis, Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Arthritis, Coomb... |
OMIM:304790 |
| Alport Syndrome 1, X-Linked |
|
Renal insufficiency, Proteinuria, Corneal erosion, Lenticonus, Stage 5 chronic kidney disease, De... |
OMIM:301050 |
| Clark-Baraitser syndrome |
|
Joint laxity, Genu recurvatum, Kyphosis, Obesity, Genu valgum, Scoliosis, Tall stature |
OMIM:300602 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Elevated hepatic transaminase, Hepatomegaly, Petechiae, Splenomegaly, Jaundice, Thrombocytopenia,... |
ORPHA:540 |
| Stickler Syndrome, Type I |
|
Arthropathy, Cataract, Joint stiffness, Kyphosis, Osteoarthritis, Arthritis, Platyspondyly, Dispr... |
OMIM:108300 |
| Celiac Disease, Susceptibility To, 1 |
|
Macrocytic anemia, Osteoporosis, Rickets, Weight loss, Iron deficiency anemia, Hypocalcemia, Stea... |
OMIM:212750 |
| Myhre Syndrome |
|
Vertebral fusion, Cataract, Small for gestational age, Short neck, Joint stiffness, Limitation of... |
OMIM:139210 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentration, Splenomegal... |
OMIM:308240 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia/Hypoplasia of the patella, Hip dislocation, Horseshoe kidney, Fused cervical vertebrae, P... |
ORPHA:3320 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... |
OMIM:612925 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Renal insufficiency, Macrocytic anemia, Thrombocytopenia, Hyperammonemia, Leukopenia, Anemia |
ORPHA:27 |
| Distal Renal Tubular Acidosis |
|
Hemolytic anemia, Hyperphosphaturia, Failure to thrive, Osteomalacia, Hypocitraturia, Rickets, Bo... |
ORPHA:18 |
| Lamb-Shaffer Syndrome |
|
Fused cervical vertebrae, Thoracic kyphosis, Scoliosis |
ORPHA:530983 |
| Wilson Disease |
|
Decreased circulating ceruloplasmin concentration, Osteoarthritis, Aminoaciduria, Hypoalbuminemia... |
OMIM:277900 |
| Slc35A1-Cdg |
|
Giant platelets, Neutropenia, Cellulitis, Abnormal platelet granules, Thrombocytopenia |
ORPHA:238459 |
| Immunodeficiency 57 With Autoinflammation |
|
Perianal abscess, T lymphocytopenia, B lymphocytopenia, Failure to thrive, Reduced natural killer... |
OMIM:618108 |
| Icf Syndrome |
|
Anemia, Lymphopenia, Abnormality of neutrophils |
ORPHA:2268 |
| Cardiomyopathy, Dilated, 1D |
|
Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:601494 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Cataract, Kyphoscoliosis, Short neck, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, H... |
OMIM:302960 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Stippling of the epiphyses of the distal phalanges of the hand, Cataract, Calcaneal epiphyseal st... |
ORPHA:79345 |
| Fibular Hemimelia |
|
Joint laxity, Decreased hip abduction, Craniosynostosis, Joint stiffness, Limitation of joint mob... |
ORPHA:93323 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal CD4:CD8 ratio, N... |
ORPHA:572 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Joint laxity, Vertebral fusion, Inguinal hernia, Hypoplastic sacrum, Thoracolumbar scoliosis, Sho... |
OMIM:268310 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... |
OMIM:612926 |
| X-Linked Hypophosphatemia |
|
Odontodysplasia, Craniosynostosis, Generalized osteosclerosis, Sacroiliac joint synovitis, Limita... |
ORPHA:89936 |
| Congenital Erythropoietic Porphyria |
|
Osteopenia, Anisocytosis, Abnormal circulating porphyrin concentration, Scarring alopecia of scal... |
ORPHA:79277 |
| Holocarboxylase Synthetase Deficiency |
|
Hyperammonemia, Weight loss, Keratoconjunctivitis, Organic aciduria, Thrombocytopenia |
ORPHA:79242 |
| Atrial Standstill |
|
Skeletal muscle atrophy, Flexion contracture, Abnormal heart morphology, Cardiomyopathy, Left ven... |
ORPHA:1344 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Abscess, Perianal abscess, Splenomegaly, Hepatosplenomegaly, Impaired oxidative... |
OMIM:618935 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Renal insufficiency, Osteomalacia, Parathormone-independent increased renal tubular calcium reabs... |
OMIM:600740 |
| Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Epiphyseal stippling, Abnormality of the vertebral column, Cataract |
OMIM:302950 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, T... |
OMIM:603553 |
| Interstitial Lung And Liver Disease |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:615486 |
| Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... |
OMIM:612924 |
| Fibrous Dysplasia Of Bone |
|
Thin bony cortex, Osteomalacia, Hypercalcemia, Fibrous dysplasia of the bones, Bone pain, Rickets... |
ORPHA:249 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Hematuria, Glomerulonephritis, Thrombocytopenia |
OMIM:314000 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Increased bone mineral density, Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia, Leu... |
OMIM:259720 |
| Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Cervical C2/C3 vertebral fusion, Joint hypermobility, Camptodactyly |
OMIM:617333 |
| Cantu Syndrome |
|
Ovoid vertebral bodies, Short neck, Large for gestational age, Delayed skeletal maturation, Cuboi... |
OMIM:239850 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Small for gestational age, Conjugated hyperbilirubinemia, Nephropathy, Nephrocalcinosis, Renal tu... |
OMIM:208085 |
| Lathosterolosis |
|
Abnormal thoracic spine morphology, Prominent metopic ridge, Cataract, Hypoplasia of penis, Aniso... |
ORPHA:46059 |
| Fumarase Deficiency |
|
Decreased fumarate hydratase activity, Intrahepatic cholestasis, Pallor, Hepatic failure, Polycyt... |
OMIM:606812 |
| Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
| Sneddon Syndrome |
|
Lymphopenia |
OMIM:182410 |
| Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Rickets, Abnormal blood ion concentration, Hypophosphatemia, Renal tubular dys... |
ORPHA:411629 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Limited elbow movement, Increased intervertebral space, T lymphocytopenia, Abnormality of the cer... |
ORPHA:508533 |
| Gaucher Disease, Type I |
|
Pancytopenia, Hypersplenism, Thrombocytopenia, Splenomegaly, Bone pain, Pathologic fracture, Vert... |
OMIM:230800 |
| Carpenter Syndrome 1 |
|
Short neck, Microcornea, Spina bifida occulta, Genu varum, Sagittal craniosynostosis, Obesity, Sc... |
OMIM:201000 |
| Myopathic Ehlers-Danlos Syndrome |
|
Pallor |
ORPHA:536516 |
| Pseudo-Von Willebrand Disease |
|
Intermittent thrombocytopenia |
OMIM:177820 |
| Werner Syndrome |
|
Low back pain, Cataract, Hypertriglyceridemia, Elevated hemoglobin A1c, Osteoporosis, Reduced bon... |
OMIM:277700 |
| Isolated Sedoheptulokinase Deficiency |
|
Short stature, Portal hypertension, Hepatitis, Cholestasis, Hypochromic microcytic anemia, Severe... |
ORPHA:440713 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Proteinuria, Macrothrombocytopenia, Aminoaciduria, Neutropenia, Decreased platelet glycoprotein I... |
OMIM:603585 |
| Oligoarticular Juvenile Idiopathic Arthritis |
|
Cataract, Band keratopathy, Knee osteoarthritis, Oligoarthritis, Abnormality of the ankle, Rheuma... |
ORPHA:85410 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Small for gestational age, Obesity, Truncal obesity, Scoliosis, Hypercholesterolemia, Joint hyper... |
ORPHA:96184 |
| Relapsing Fever |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytos... |
ORPHA:91547 |
| Idiopathic Hypereosinophilic Syndrome |
|
Elevated hepatic transaminase, Neutrophilia, Cholangitis, Eosinophilia, Splenomegaly, Leukocytosi... |
ORPHA:3260 |
| Sifrim-Hitz-Weiss Syndrome |
|
Renal insufficiency, Vesicoureteral reflux, Flat acetabular roof, Fused cervical vertebrae, Astig... |
OMIM:617159 |
| Shashi-Pena Syndrome |
|
Unilateral renal agenesis, Accelerated skeletal maturation, Kyphosis, Osteoporosis, Scoliosis, Ce... |
OMIM:617190 |
| Wolfram Syndrome 1 |
|
Sideroblastic anemia, Neurogenic bladder, Cataract, Hydroureter, Megaloblastic anemia, Hydronephr... |
OMIM:222300 |
| Bernard-Soulier Syndrome |
|
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Impaired ristocetin-induced platelet ag... |
OMIM:231200 |
| Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
| Fetal Gaucher Disease |
|
Pancytopenia, Abnormality of the spleen, Splenomegaly, Flexion contracture, Arthrogryposis multip... |
ORPHA:85212 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Myelofibrosis, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia |
OMIM:617441 |
| Chops Syndrome |
|
Cataract, Splenomegaly, Vesicoureteral reflux, Horseshoe kidney, Obesity, Tracheomalacia, Cervica... |
OMIM:616368 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:264580 |
| Mosaic Trisomy 20 |
|
Vertebral fusion, Kyphosis, Spinal canal stenosis, Horseshoe kidney, Fused cervical vertebrae, Ve... |
ORPHA:1724 |
| Simpson-Golabi-Behmel Syndrome |
|
Omphalocele, Vertebral fusion, Ureteral duplication, Congenital hip dislocation, Hypoplasia of pe... |
ORPHA:373 |
| Bile Acid Conjugation Defect 1 |
|
Conjugated hyperbilirubinemia, Rickets |
OMIM:619232 |
| Castleman Disease |
|
Decreased mean corpuscular volume, Thrombocytopenia, Anemia |
ORPHA:160 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Cataract, Flexion contracture, Leukopenia, 3-Methylglutaconic aciduria, Neutropenia, Zonular cata... |
OMIM:616271 |
| Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Cataract, Elevated circulating creatine kinase concentration, Achilles tendon contracture, Obesit... |
OMIM:615418 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Schistocytosis, Elevated circ... |
OMIM:235400 |
| Anemia, Congenital Dyserythropoietic, Type Iiia |
|
Macrocytic anemia, Anemia of inadequate production, Congenital hypoplastic anemia, Jaundice, Incr... |
OMIM:105600 |
| Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
| Dravet Syndrome |
|
Pallor |
ORPHA:33069 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Methylmalonic acidemia, Pancytopenia, Small for gestational age, Megaloblastic anemia, Cystathion... |
OMIM:277380 |
| Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased body weight, Scoliosis |
OMIM:182290 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume |
OMIM:615193 |
| Lig4 Syndrome |
|
Pancytopenia, Small for gestational age, Acute lymphoblastic leukemia, Astigmatism, Micropenis, F... |
OMIM:606593 |
| Stt3B-Cdg |
|
Micropenis, Failure to thrive, Thrombocytopenia |
ORPHA:370924 |
| Primary Fanconi Renotubular Syndrome |
|
Bicarbonaturia, Bone pain, Low-molecular-weight proteinuria, Hypophosphatemic rickets, Hypouricem... |
ORPHA:3337 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Proximal radio-ulnar synostosis, Amegakaryocytic thrombocytopenia, Aplastic anemia, Hip dislocati... |
OMIM:605432 |
| Braddock-Carey Syndrome 1 |
|
Multicystic kidney dysplasia, Hyperlordosis, Camptodactyly, Enamel hypoplasia, Thrombocytopenia |
OMIM:619980 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Lymphopenia, Neutropenia |
OMIM:614868 |
| Overlap Myositis |
|
Subluxation of the small joints of the hand, Elevated circulating creatine kinase concentration, ... |
ORPHA:206572 |
| Tularemia |
|
Brain abscess, Leukocytosis, Anemia, Conjunctivitis, Conjunctival hyperemia, Thrombocytopenia, Cu... |
ORPHA:3392 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Hypospadias, Blue irides, Advanced ossification of carpal bones, Spinal canal stenosis, Obesity |
OMIM:614613 |
| Methylmalonic Aciduria, Cblb Type |
|
Methylmalonic acidemia, Pancytopenia, Ketonuria, Thrombocytopenia, Hyperammonemia, Methylmalonic ... |
OMIM:251110 |
| Giant platelet syndrome with thrombocytopenia |
|
Giant platelets, Thrombocytopenia |
OMIM:137560 |
| Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Proteinuria, Rickets, Stage 5 chronic kidney disease, Corneal crystals |
OMIM:219900 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
| Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Growth delay, Anemic pallor, Anemia |
ORPHA:329971 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, B lymphocytopenia, ... |
OMIM:150550 |
| Aicardi-Goutieres Syndrome 4 |
|
Splenomegaly, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly |
OMIM:610333 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Micropenis, Failure to thrive, Thrombocytopenia |
OMIM:615597 |
| Kcnq2-Related Epileptic Encephalopathy |
|
Pallor, Facial erythema |
ORPHA:439218 |
| Immunodeficiency 68 |
|
Abscess, T lymphocytopenia, B lymphocytopenia, Septic arthritis, Abnormal natural killer cell count |
OMIM:612260 |
| Rh-Null, Regulator Type |
|
Hemolytic anemia, Jaundice, Stomatocytosis |
OMIM:268150 |
| Pgm3-Cdg |
|
Hemolytic anemia, Failure to thrive, Osteomyelitis, Membranoproliferative glomerulonephritis, Abn... |
ORPHA:443811 |
| Griscelli Syndrome |
|
Abnormality of neutrophils, Splenomegaly, Leukopenia, Abnormal circulating lipid concentration, T... |
ORPHA:381 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Proteinuria, Short neck, Thrombocytopenia, Splenomegaly, Flexion contracture, Anemia, Nephrotic s... |
OMIM:617303 |
| Moyamoya Disease With Early-Onset Achalasia |
|
Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
| Kaposiform Lymphangiomatosis |
|
Abnormal thoracic spine morphology, Fractures of the long bones, Abnormal sacrum morphology, Thro... |
ORPHA:464329 |
| Immunodeficiency 10 |
|
Hypoplasia of the iris, Autoimmune hemolytic anemia, Thrombocytopenia, Amelogenesis imperfecta |
OMIM:612783 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Cutaneous abscess, Lymphopenia, Reduced natural killer cell count, Neutropenia |
OMIM:619752 |
| Isovaleric Acidemia |
|
Leukopenia, Pancytopenia, Hyperglycinuria, Thrombocytopenia |
OMIM:243500 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Stage 3 chronic kidney disease, Elevated circulating creatine kinase concentration, Thrombocytope... |
OMIM:619743 |
| Shox-Related Short Stature |
|
Short neck, Madelung deformity, Obesity, Genu valgum, Scoliosis, Cubitus valgus, Ulnar radial hea... |
ORPHA:314795 |
| Diffuse Alveolar Hemorrhage |
|
Proteinuria, Thrombocytopenia, Leukocytosis, Elevated circulating creatinine concentration, Weigh... |
ORPHA:90060 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Lumbar hyperlordosis, Obesity, Irregular vertebral endplates, Osteosclerosis of ribs, Platyspondy... |
ORPHA:174 |
| Pancreatic Triacylglycerol Lipase Deficiency |
|
Osteomalacia, Osteoporosis, Rickets, Weight loss, Iron deficiency anemia, Keratoconjunctivitis si... |
ORPHA:309031 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Increased bone mineral density, Cataract, Microcornea, Iris transillumination defect, Osteopetros... |
OMIM:617306 |
| Bardet-Biedl Syndrome 9 |
|
Renal insufficiency, Cataract, Obesity, Truncal obesity, Astigmatism |
OMIM:615986 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Dorsocervical fat pad, Paradoxical increased cortisol secretion... |
ORPHA:189427 |
| Non-Functioning Paraganglioma |
|
Pallor |
ORPHA:94080 |
| Duane-Radial Ray Syndrome |
|
Cataract, Renal hypoplasia, Horseshoe kidney, Hydronephrosis, Fused cervical vertebrae, Shoulder ... |
OMIM:607323 |
| Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... |
OMIM:617319 |
| Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Generalized joint laxity, Increased body weight |
ORPHA:589905 |
| Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Thrombocytopenia |
OMIM:616435 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Increased urinary gl... |
ORPHA:247598 |
| Wolf-Hirschhorn Syndrome |
|
Accessory spleen, Vertebral fusion, Sacral dimple, Rieger anomaly, Hypospadias, Small for gestati... |
OMIM:194190 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Splenomegaly, Autoimmune hemolytic anemia, Lymphopenia, Autoimmune thrombocytopenia |
OMIM:616100 |
| Osteogenesis Imperfecta |
|
Osteopenia, Cervical kyphosis, Osteoarthritis, Flexion contracture, Bone pain, Abnormal form of t... |
ORPHA:666 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:141000 |
| Bleeding Disorder, Platelet-Type, 20 |
|
Thrombocytopenia |
OMIM:616913 |
| Von Willebrand Disease, Type 2 |
|
Thrombocytopenia |
OMIM:613554 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased proportion of CD3-positive T cells, Lymphopenia, Eosinophilia, Hepatosplenomegaly |
ORPHA:169160 |
| Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
| Thrombocytopenia 6 |
|
Myelofibrosis, Osteoporosis, Thrombocytopenia |
OMIM:616937 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple... |
OMIM:614700 |
| Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
| Acute Promyelocytic Leukemia |
|
Pancytopenia, Thrombocytopenia, Leukocytosis, Bone pain, Weight loss, Hematuria, Leukopenia, Neut... |
ORPHA:520 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Dilated cardiomyopathy, Left ventricular noncompaction, Neonatal death, Left ventricular hypertro... |
OMIM:619167 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Pancytopenia, Failure to thrive in infancy, Abnormal lymphocyte count, Thrombocytopenia, Decrease... |
ORPHA:79124 |
| Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
| X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Optic disc pallor, HbH hemoglobin, Macular coloboma |
ORPHA:423479 |
| Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic acidemia, Pancytopenia, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Th... |
OMIM:251100 |
| 3Q29 Microduplication Syndrome |
|
Cataract, Sclerocornea, Craniosynostosis, Short neck, Obesity, Aniridia, Camptodactyly of toe, Ir... |
ORPHA:251038 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Lumbar hyperlordosis, Proteinuria, Short neck, Joint stiffness, Heparan sulfate excretion in urin... |
ORPHA:505248 |
| Cystinosis, Nephropathic |
|
Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophosphatemic rickets... |
OMIM:219800 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Cataract, Thrombocytopenia, Reticulocytopenia, Leukopenia, Panniculitis, B lymphocytopenia, Neutr... |
ORPHA:508542 |
| Shigellosis |
|
Hyponatremia, Failure to thrive in infancy, Abscess, Hemolytic-uremic syndrome, Leukocytosis, Ure... |
ORPHA:810 |
| Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Small for gestational age, Ectopic kidney, Thrombocytopenia, Flexion contracture, R... |
OMIM:227645 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Myelofibrosis, Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules... |
OMIM:187900 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Absent natural kil... |
OMIM:600802 |
| Non-Involuting Congenital Hemangioma |
|
Thrombocytopenia |
ORPHA:141179 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Myelofibrosis, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophagocytosis, Ne... |
OMIM:301078 |
| Pediatric-Onset Graves Disease |
|
Craniosynostosis, Accelerated skeletal maturation, Keratitis, Splenomegaly, Neutropenia in presen... |
ORPHA:525731 |
| 9Q31.1Q31.3 Microdeletion Syndrome |
|
Cervical kyphosis, Short neck, Overweight, Renovascular hypertension, Hypercholesterolemia |
ORPHA:401923 |
| Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Anemic pallor, Short stature, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thr... |
OMIM:600901 |
| Stapes Ankylosis With Broad Thumbs And Toes |
|
Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger |
OMIM:184460 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Pancytopenia, Elevated circulating creatine kinase concentration, Unilateral renal agenesis, Sple... |
OMIM:614576 |
| Aicardi Syndrome |
|
Cataract, Block vertebrae, Hiatus hernia, Hemivertebrae, Scoliosis, Lipoma, Butterfly vertebrae |
OMIM:304050 |
| Omenn Syndrome |
|
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,... |
OMIM:603554 |
| Smith-Lemli-Opitz Syndrome |
|
Ureteropelvic junction obstruction, Sacral dimple, Cataract, Hypospadias, Unilateral renal agenes... |
OMIM:270400 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne... |
OMIM:613179 |
| Bone Marrow Failure Syndrome 4 |
|
Leukopenia, Thrombocytopenia, Anemia |
OMIM:618116 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Lymphopenia, Decreased proportion of naive T cells, Abnormally low T cell receptor excision circl... |
ORPHA:276 |
| Ivic Syndrome |
|
Joint stiffness, Leukocytosis, Radioulnar synostosis, Scoliosis, Thrombocytopenia, Synostosis of ... |
ORPHA:2307 |
| Distal Triplication 15Q |
|
Corneal dystrophy, Craniosynostosis, Large for gestational age, Kyphosis, Birth length greater th... |
ORPHA:314588 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomegaly, Osteoporo... |
ORPHA:79240 |
| Cyclic Neutropenia |
|
Cyclic neutropenia, Perianal abscess, Decreased eosinophil count, Lymphopenia, Tooth abscess, Thr... |
ORPHA:2686 |
| Gray Platelet Syndrome |
|
Myelofibrosis, Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules,... |
OMIM:139090 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopeni... |
ORPHA:158048 |
| Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
| Pediatric Systemic Lupus Erythematosus |
|
Dark urine, Renal insufficiency, Proteinuria, Hematuria, Arthritis, Nephrotic syndrome, Leukopeni... |
ORPHA:93552 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Cataract, Corneal opacity, Eosinophilia, Thrombocytopenia, Leukocytosis, Pa... |
OMIM:274000 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Kyphosis, Osteoporosis, Nephrolithiasis, Obesity, Hypokalemia, Abdominal obesity, Biconcave verte... |
OMIM:219090 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... |
OMIM:606367 |
| Neu-Laxova Syndrome |
|
Osteopenia, Cataract, Osteomalacia, Flexion contracture, Osteoporosis, Rickets, Scoliosis, Arthro... |
ORPHA:2671 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Aplasia of the thymus, Short neck, Kyphosis, Hemivertebrae, Contracture of the proximal interphal... |
OMIM:618223 |
| Occipital Horn Syndrome |
|
Osteopenia, Abnormality of the wrist, Femoral hernia, Osteomalacia, Scarring, Hiatus hernia, Oste... |
ORPHA:198 |
| Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Anemic pallor, Short stature, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thr... |
OMIM:227650 |
| Gaucher Disease |
|
Osteopenia, Joint dislocation, Elevated circulating C-reactive protein concentration, Osteoarthri... |
ORPHA:355 |
| Abdominal Obesity-Metabolic Syndrome 4 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Obesity, ... |
OMIM:618620 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Urethral stricture, Pancytopenia, Aplastic anemia, Avascular necrosis of the capital femoral epip... |
OMIM:613990 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Aminoaciduria, Thiamine-responsive megaloblastic anemia, Thrombocytopenia |
OMIM:249270 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Proteinuria, Megaloblastic anemia... |
OMIM:277400 |
| Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Obesity, Gout, Increased LDL chole... |
ORPHA:412 |
| Acute Radiation Syndrome |
|
Lymphopenia, Cataract, Granulocytopenia, Thrombocytopenia |
ORPHA:454831 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Iris atrophy, Cataract, Recurrent fractures, Kyphoscoliosis, Kyphosis, Osteoporosis, ... |
OMIM:259770 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Aplasia of the thymus, Eosinophilia, Splenomegaly, B lymphocytopenia, Abnormally low T cell recep... |
OMIM:602450 |
| Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Epiphyseal stippling, Small for gestational age, Increased body weight |
OMIM:274300 |
| Thyrocerebroretinal Syndrome |
|
Nephritis, Thrombocytopenia |
OMIM:274240 |
| Beemer-Ertbruggen Syndrome |
|
Increased bone mineral density, Thrombocytopenia |
ORPHA:1237 |
| Drug-Induced Lupus Erythematosus |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:231111 |
| Hemochromatosis, Type 5 |
|
Anemia, Elevated hepatic iron concentration |
OMIM:615517 |
| Hellp Syndrome |
|
Back pain, Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Proteinuria, In... |
ORPHA:244242 |
| Generalized Pustular Psoriasis |
|
Hyponatremia, Renal insufficiency, Elevated circulating C-reactive protein concentration, Overwei... |
ORPHA:247353 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Joint laxity, Pancytopenia, Thin bony cortex, Small for gestational age, Inguinal her... |
OMIM:613658 |
| Kbg Syndrome |
|
Vertebral fusion, Short neck, Epispadias, Delayed skeletal maturation, Vertebral arch anomaly, Th... |
OMIM:148050 |
| Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Elevated circulating alpha-fetoprotein concentration, Neutropenia |
OMIM:617243 |
| Smith-Kingsmore Syndrome |
|
Umbilical hernia, Thrombocytopenia, Large for gestational age |
OMIM:616638 |
| Distal 16P11.2 Microdeletion Syndrome |
|
Proteinuria, Kyphosis, Chronic kidney disease, Obesity, Hyperuricemia, Vesicoureteral reflux |
ORPHA:261222 |
| Agammaglobulinemia 9, Autosomal Recessive |
|
Thrombocytopenia, Failure to thrive, Absent circulating B cells |
OMIM:619693 |
| Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Microphakia, Cataract, Lens subluxation, Scoliosis |
ORPHA:171844 |
| Avian Influenza |
|
Lymphopenia, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive ... |
ORPHA:454836 |
| Immunodeficiency 22 |
|
Abscess, Anemia, Panniculitis, Decreased proportion of CD4-positive helper T cells, Failure to th... |
OMIM:615758 |
| Eisenmenger Syndrome |
|
Iron deficiency anemia, Brain abscess, Increased mean corpuscular volume, Hypochromic microcytic ... |
ORPHA:97214 |
| Ivic Syndrome |
|
Limited interphalangeal movement, Limited elbow movement, Limited wrist movement, Leukocytosis, R... |
OMIM:147750 |
| Senior-Loken Syndrome 9 |
|
Osteopenia, Stage 5 chronic kidney disease, Obesity, Tubulointerstitial nephritis, Nephronophthisis |
OMIM:616629 |
| Obesity Due To Congenital Leptin Deficiency |
|
Decreased proportion of CD4-positive helper T cells, Hypertriglyceridemia, Obesity, Accelerated s... |
ORPHA:66628 |
| Pycnodysostosis |
|
Joint laxity, Persistent open anterior fontanelle, Increased bone mineral density, Hyperlordosis,... |
ORPHA:763 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Increased circulating ferritin concentration, Hypochromic microcytic anemia, Osteopetrosis, Throm... |
ORPHA:3240 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Unilateral renal agenesis, Fused cervical vertebrae, Spina bifida occulta, Butterfly vertebrae |
OMIM:619227 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Splenomegaly, Growth delay, Pallor, Anemia |
ORPHA:667 |
| Macrocephaly/Autism Syndrome |
|
Joint laxity, Penile freckling, Large for gestational age, Splenomegaly, Obesity, Overgrowth, Lym... |
OMIM:605309 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
Vertebral fusion, Inguinal hernia, Hyperextensible hand joints, Pollakisuria, Camptodactyly |
OMIM:227330 |
| Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Anemic pallor, Short stature, Thrombocytopenia, Patent ductus arteriosus, Reticuloc... |
OMIM:227646 |
| Insulin-Resistance Syndrome Type B |
|
Abnormal circulating lipid concentration, Decreased body weight, Proteinuria, Abnormality of body... |
ORPHA:2298 |
| Cone-Rod Dystrophy 8 |
|
Pallor |
OMIM:605549 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cataract, Obesity |
OMIM:601794 |
| Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Cataract, Obesity |
ORPHA:363741 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Recurrent fractures, Craniosynostosis, Hyp... |
ORPHA:251004 |
| Myopathy, Mitochondrial, And Ataxia |
|
Growth delay, Short stature, Pallor |
OMIM:617675 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Schistocytosis, Elevat... |
OMIM:274150 |
| 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
| Pseudopseudohypoparathyroidism |
|
Ectopic ossification, Hyperphosphatemia, Hypocalcemia, Obesity |
ORPHA:79445 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased proportion of CD4-positive helper T cells, Hypertriglyceridemia, Obesity, Accelerated s... |
ORPHA:179494 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Dicarboxylic aciduria, Elevated circulating acylcarnitine concentration, Hyperammonemia, Decrease... |
ORPHA:99901 |
| Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Micropenis, Osteoporosis, Obesity |
OMIM:610628 |
| Sick Sinus Syndrome 2 |
|
Left ventricular hypertrophy, Left ventricular noncompaction, Mitral valve prolapse |
OMIM:163800 |
| Bacterial Toxic-Shock Syndrome |
|
Renal insufficiency, Osteomyelitis, Fasciitis, Glomerulonephritis, Elevated circulating creatine ... |
ORPHA:36234 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:619769 |
| Senior-Boichis Syndrome |
|
Elevated hepatic transaminase, Malformation of the hepatic ductal plate, Portal hypertension, Con... |
ORPHA:84081 |
| Proteus-Like Syndrome |
|
Thymus hyperplasia, Cataract, Genu recurvatum, Splenomegaly, Abnormal pupil morphology, Hyperosto... |
ORPHA:2969 |
| Arnold-Chiari Malformation Type I |
|
Stiff neck, Urinary incontinence, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 vertebral f... |
ORPHA:268882 |
| Tay-Sachs Disease |
|
Pallor |
OMIM:272800 |
| Rheumatic Fever |
|
Erythema, Pallor |
ORPHA:3099 |
| Cardiomyopathy, Dilated, 1S |
|
Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Perimembra... |
OMIM:613426 |
| Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
T lymphocytopenia, Micropenis, B lymphocytopenia, Abnormal natural killer cell morphology |
OMIM:615966 |
| Hermansky-Pudlak Syndrome 2 |
|
Absent platelet dense granules, Splenomegaly, Impaired ADP-induced platelet aggregation, Ocular a... |
OMIM:608233 |
| Gaisböck Syndrome |
|
Hypertriglyceridemia, Overweight, Splenomegaly, Increased mean corpuscular hemoglobin concentrati... |
ORPHA:90041 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Failure to thrive, Inguinal hernia, Intermittent thrombocytopenia, Perianal abscess, Erythroid hy... |
OMIM:612541 |
| Thymoma |
|
Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis |
ORPHA:99867 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Hyperlipidemia, Hypertriglyceridemia, Obesity |
OMIM:617885 |
| Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypercalcemia, Bone pain, Rickets, Renal phosphate wasting, Hypophosphatemia, Hypophosphatemic ri... |
OMIM:612089 |
| Immunodeficiency 55 |
|
Absent natural killer cells, Lymphopenia, Neutropenia |
OMIM:617827 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Osteopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocytopenia, Delayed s... |
ORPHA:391487 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
T lymphocytopenia, B lymphocytopenia |
ORPHA:217390 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Thoracic scoliosis, Cervical hemivertebrae, Hypospadias, Short neck, Generalized joint laxity, Hi... |
ORPHA:508498 |
| Congenital Analbuminemia |
|
Small for gestational age, Lipodystrophy, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo... |
ORPHA:86816 |
| Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Acute myeloid leukemia, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal dense g... |
OMIM:601399 |
| Autosomal Dominant Keratitis |
|
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... |
ORPHA:2334 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Lymphopenia, Anemia |
ORPHA:935 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Leukopenia, Lymphopenia, Thrombocytosis, Anemia |
OMIM:615934 |
| Hermansky-Pudlak Syndrome 5 |
|
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Ocular albinism, Iris ... |
OMIM:614074 |
| Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:165550 |
| Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Increased bone mineral density, Cataract, Short neck, Diaphyseal sclerosis, Hyperphos... |
ORPHA:94089 |
| Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
| Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Keratitis, Thrombocytopenia,... |
ORPHA:906 |
| Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Abnormal dense granules, Thrombocytopenia, Splenomegal... |
OMIM:214500 |
| Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Pancytopenia, Aplastic anemia, Osteoporosis, Pterygium, Thrombocytopenia |
OMIM:224230 |
| Secondary Intestinal Lymphangiectasia |
|
Lymphopenia, Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia,... |
ORPHA:90363 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... |
OMIM:617443 |
| Fanconi Anemia, Complementation Group F |
|
Sacral dimple, Failure to thrive, Thrombocytopenia, Renal hypoplasia, Leukopenia, Microphallus, V... |
OMIM:603467 |
| Lathosterolosis |
|
Cataract, Increased mean platelet volume, Lumbosacral meningocele, Acanthocytosis, Schistocytosis... |
OMIM:607330 |
| Dubowitz Syndrome |
|
Sacral dimple, Cataract, Hypospadias, Craniosynostosis, Abnormality of neutrophils, Thrombocytope... |
ORPHA:235 |
| Quebec Platelet Disorder |
|
Joint hemorrhage, Thrombocytopenia, Impaired epinephrine-induced platelet aggregation |
OMIM:601709 |
| Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Thrombocytopenia, Leukocytosis, Hyperammonemia, Leukopenia, Hypoa... |
ORPHA:292 |
| Familial Hypocalciuric Hypercalcemia |
|
Hypomagnesiuria, Renal hypophosphatemia, Osteomalacia, Parathormone-independent increased renal t... |
ORPHA:405 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemia, Lipodystrophy, ... |
OMIM:256040 |
| Primary Intestinal Lymphangiectasia |
|
Decreased proportion of CD3-positive T cells, Lymphopenia, Reduced proportion of CD4+ effector me... |
ORPHA:90362 |
| Adams-Oliver Syndrome |
|
Leukopenia, Failure to thrive, Cataract, Thrombocytopenia |
ORPHA:974 |
| Chédiak-Higashi Syndrome |
|
Hyponatremia, Abnormal leukocyte morphology, Pancytopenia, Hypertriglyceridemia, Increased circul... |
ORPHA:167 |
| Roberts Syndrome |
|
Cataract, Progressive flexion contractures, Craniosynostosis, Short neck, Patellar aplasia, Long ... |
ORPHA:3103 |
| Vici Syndrome |
|
Lymphopenia, Failure to thrive, Cataract, Elevated circulating creatine kinase concentration, Ocu... |
OMIM:242840 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt... |
OMIM:243150 |
| Cushing Disease |
|
Increased urinary cortisol level, Lymphopenia, Dorsocervical fat pad, Paradoxical increased corti... |
ORPHA:96253 |
| Atelis Syndrome 2 |
|
Thrombocytopenia, Remnants of the hyaloid vascular system, Anemia |
OMIM:620185 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Cataract, Hyperlipidemia, Flexion contracture, Limitation of joint mobility, Osteolysis, Osteolyt... |
ORPHA:90153 |
| Adenohypophysitis |
|
Normochromic anemia, Pallor |
ORPHA:95512 |
| Thrombocytopenia, Paris-Trousseau Type |
|
Thrombocytopenia |
OMIM:188025 |
| Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Decreased circulating copper concentration, Thrombocytopenia... |
OMIM:300972 |
| Pseudo-Torch Syndrome 3 |
|
Proteinuria, Increased circulating ferritin concentration, Leukocytosis, Acute kidney injury, Con... |
OMIM:618886 |
| Cartilage-Hair Hypoplasia |
|
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Congenital hypopla... |
OMIM:250250 |
| Moyamoya Disease 6 With Or Without Achalasia |
|
Thrombocytopenia |
OMIM:615750 |
| Nephronophthisis 11 |
|
Growth delay, Hepatic fibrosis, Anemia |
OMIM:613550 |
| Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Cataract, Kyphosis, Flexion contracture, Bone cyst, Osteolysis, Abnormal form of... |
ORPHA:3042 |
| Gaucher Disease Type 3 |
|
Increased bone mineral density, Pancytopenia, Proteinuria, Thrombocytopenia, Delayed skeletal mat... |
ORPHA:77261 |
| Dyskeratosis Congenita |
|
Cataract, Recurrent fractures, Abnormality of neutrophils, Thrombocytopenia, Splenomegaly, Urethr... |
ORPHA:1775 |
| Robinow Syndrome |
|
Fused thoracic vertebrae, Multicystic kidney dysplasia, Small for gestational age, Kyphoscoliosis... |
ORPHA:97360 |
| Pearson Syndrome |
|
Renal cyst, Hypocalcemia, Neutropenia, Reticulocytosis, Hypokalemia, Hypomagnesemia, Glycosuria, ... |
ORPHA:699 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Micropenis, Increased body weight, Horseshoe kidney, Short neck |
OMIM:300860 |
| Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Optic disc coloboma, Remnants of the hyaloid vascular system, Chorioretinal ... |
OMIM:120200 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Splenomegaly, Hypoplasia of the iris, Amelogenesis imperfecta, Thrombocytopenia... |
ORPHA:169090 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
T lymphocytopenia, Failure to thrive, Reduced natural killer cell count |
OMIM:242860 |
| Snakebite Envenomation |
|
Hyponatremia, Acute kidney injury, Thrombocytopenia |
ORPHA:449285 |
| Blue Diaper Syndrome |
|
Hypercalcemia, Increased body weight, Nephrocalcinosis, Blue urine, Hyperphosphatemia |
ORPHA:94086 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosinophilia, Autoi... |
OMIM:102700 |
| Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Increased circulating ferritin concentration, Thrombocytopenia, Hepatosplenomegaly |
ORPHA:210136 |
| Fanconi Anemia, Complementation Group B |
|
Aplastic anemia, Short neck, Micropenis, Abnormal vertebral morphology, Thrombocytopenia |
OMIM:300514 |
| Panhypophysitis |
|
Normochromic anemia, Pallor |
ORPHA:95513 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Severe B lymphocytopenia, Cataract, Craniosynostosis, Thrombocytopenia, Absence... |
OMIM:620005 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Osteopenia, Thrombocytopenia, Osteoporosis, Increased susceptibility to fractures, Genu valgum, S... |
OMIM:612199 |
| Ebola Hemorrhagic Fever |
|
Leukopenia, Lymphopenia, Thrombocytopenia |
ORPHA:319218 |
| Thakker-Donnai Syndrome |
|
Congenital diaphragmatic hernia, Short neck, Hemivertebrae, Cervical C2/C3 vertebral fusion, Hydr... |
ORPHA:1780 |
| Apert Syndrome |
|
Sagittal craniosynostosis, Limited elbow movement, Craniosynostosis, Delayed epiphyseal ossificat... |
OMIM:101200 |
| Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
| Non-Functioning Pituitary Adenoma |
|
Pallor, Anemia of inadequate production |
ORPHA:91349 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Osteopenia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Autoimmune thrombocyto... |
ORPHA:77293 |
| Necrotizing Enterocolitis |
|
Hyponatremia, Small for gestational age, Leukocytosis, Neutropenia, Thrombocytopenia |
ORPHA:391673 |
| Aromatase Deficiency |
|
Osteopenia, Eunuchoid habitus, Delayed epiphyseal ossification, Delayed skeletal maturation, Oste... |
ORPHA:91 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Hepatosp... |
ORPHA:35078 |
| Childhood Absence Epilepsy |
|
Pallor |
ORPHA:64280 |
| Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Steatorrhea, Neutropenia, Failure to thrive, Thrombocytopenia, Genu varum |
OMIM:617941 |
| Aicardi Syndrome |
|
Block vertebrae, Hiatus hernia, Multiple lipomas, Scoliosis, Butterfly vertebrae |
ORPHA:50 |
| Pituitary Apoplexy |
|
Normochromic anemia, Pallor |
ORPHA:95613 |
| Stormorken Syndrome |
|
Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Thrombocytopen... |
OMIM:185070 |
| Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... |
ORPHA:1501 |
| Boutonneuse Fever |
|
Leukopenia, Renal insufficiency, Thrombocytopenia |
ORPHA:83313 |
| Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Increased bone mineral density, Cataract, Short neck, Band keratopathy, Obesity, Redu... |
ORPHA:79443 |
| Kasabach-Merritt Syndrome |
|
Reticulocytosis, Petechiae, Thrombocytopenia, Leukopenia, Hepatic hemangioma, Microangiopathic he... |
ORPHA:2330 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Hydronephrosis, Increased mean platelet volume |
OMIM:300048 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Hemoglobinuria, Leukopenia, Renal Fanconi syndrome, Erythroid hyperplasia, Hemolytic anemia, Reti... |
ORPHA:447 |
| Degcags Syndrome |
|
Hepatomegaly, Pancytopenia, Congenital hypoplastic anemia, Patent ductus arteriosus, Cholestasis,... |
OMIM:619488 |
| Brucellosis |
|
Liver abscess, Elevated circulating C-reactive protein concentration, Knee osteoarthritis, Leukop... |
ORPHA:1304 |
| Cornelia De Lange Syndrome 1 |
|
Inguinal hernia, Hypospadias, Proteinuria, Congenital diaphragmatic hernia, Short neck, Ectopic k... |
OMIM:122470 |
| Chondrodysplasia Punctata, Autosomal Dominant |
|
Hip contracture, Cataract, Knee flexion contracture, Epiphyseal stippling, Scoliosis |
OMIM:118650 |
| Von Willebrand Disease, Type 3 |
|
Impaired platelet aggregation, Joint hemorrhage, Thrombocytopenia |
OMIM:277480 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Autoimmune hemolytic anemia, Thrombocytopenia |
OMIM:616576 |
| Weill-Marchesani Syndrome 2 |
|
Iridodonesis, Lumbar hyperlordosis, Cataract, Joint stiffness, Lens luxation, Ectopia lentis, Del... |
OMIM:608328 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Inguinal hernia, Severe B lymphocytopenia, Contracture of the distal interphalangeal joint of the... |
ORPHA:83617 |
| Stevens-Johnson Syndrome |
|
Renal insufficiency, Dysuria, Abnormality of neutrophils, Abnormality of the urethra, Thrombocyto... |
ORPHA:36426 |
| Takenouchi-Kosaki Syndrome |
|
Inguinal hernia, Hypospadias, Unilateral renal agenesis, Increased mean platelet volume, Scoliosi... |
OMIM:616737 |
| Alport Syndrome 2, Autosomal Recessive |
|
Renal insufficiency, Cataract, Proteinuria, Corneal erosion, Stage 5 chronic kidney disease, Hema... |
OMIM:203780 |
| Sea-Blue Histiocytosis |
|
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis |
ORPHA:158029 |
| Atelosteogenesis, Type I |
|
Short neck, Thoracic platyspondyly, Elbow dislocation, Knee dislocation, Fused cervical vertebrae... |
OMIM:108720 |
| Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Increased bone mineral density, Cataract, Short neck, Obesity, Hyperphosphatemia, Con... |
ORPHA:79444 |
| Toxic Epidermal Necrolysis |
|
Renal insufficiency, Dysuria, Abnormality of the urethra, Thrombocytopenia, Corneal erosion, Weig... |
ORPHA:537 |
| Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Pancytopenia, Recurrent fractures, Elevated circulating creatine kinase concentration, Thrombocyt... |
ORPHA:2785 |
| Immunodeficiency 23 |
|
Hemolytic anemia, Abscess, Eosinophilia, Neutropenia, Lymphopenia |
OMIM:615816 |
| Long Qt Syndrome 15 |
|
Left ventricular noncompaction |
OMIM:616249 |
| Apert Syndrome |
|
Corneal erosion, Vertebral segmentation defect, Cervical C5/C6 vertebrae fusion |
ORPHA:87 |
| Diamond-Blackfan Anemia 21 |
|
Erythroid hypoplasia, Obesity, Genu valgum, Anemia, Cubitus valgus, Thrombocytopenia |
OMIM:620072 |
| Sheehan Syndrome |
|
Normochromic anemia, Dry skin, Pallor |
ORPHA:91355 |
| Jacobsen Syndrome |
|
Hypospadias, Short neck, Flexion contracture, Microcornea, Failure to thrive, Iris coloboma, Thro... |
OMIM:147791 |
| Tufted Angioma |
|
Anemia, Thrombocytopenia |
ORPHA:1063 |
| Hemorrhagic Fever-Renal Syndrome |
|
Back pain, Anuria, Proteinuria, Glomerulonephritis, Thrombocytopenia, Leukocytosis, Chronic kidne... |
ORPHA:340 |
| Cardiospondylocarpofacial Syndrome |
|
Joint laxity, Tarsal synostosis, Congenital diaphragmatic hernia, Delayed skeletal maturation, Ve... |
OMIM:157800 |
| Classic Homocystinuria |
|
Cataract, Recurrent fractures, Joint stiffness, Ectopia lentis, Kyphosis, Osteoporosis, Genu valg... |
ORPHA:394 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Hypertriglyceridemia, Obesity, Abnormal granulocyte morphology, Abnormal circulating creatine kin... |
ORPHA:98907 |
| Lujo Hemorrhagic Fever |
|
Lymphopenia, Renal insufficiency, Stiff neck, Elevated circulating C-reactive protein concentrati... |
ORPHA:319213 |
| Ataxia-Oculomotor Apraxia 4 |
|
Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
| Lead Poisoning |
|
Imbalanced hemoglobin synthesis, Anemia, Abnormal T cell morphology |
ORPHA:330015 |
| Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Joint laxity, Lumbar hyperlordosis, Obesity, Genu valgum, Scoliosis, Anterior polar cataract, Car... |
OMIM:250420 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Omphalocele, Absence of the sacrum, Congenital hip dislocation, Block vertebrae, Asplenia, Horses... |
OMIM:306955 |
| 21Q22.11Q22.12 Microdeletion Syndrome |
|
Sacral dimple, Failure to thrive in infancy, Delayed skeletal maturation, Anemia, Camptodactyly, ... |
ORPHA:261323 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hip contracture, Osteolysis involving bones of the upper limbs, Osteolysis, Osteolysis involving ... |
ORPHA:464321 |
| Braddock-Carey Syndrome 2 |
|
Thrombocytopenia |
OMIM:619981 |
| Leiomyomatosis, Diffuse, With Alport Syndrome |
|
Renal insufficiency, Cataract, Proteinuria, Failure to thrive, Stage 5 chronic kidney disease, He... |
OMIM:308940 |
| Idiopathic Aplastic Anemia |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Thrombocytopenia |
ORPHA:88 |
| Dengue Fever |
|
Leukopenia, Hypoproteinemia, Thrombocytopenia |
ORPHA:99828 |
| Vexas Syndrome |
|
Thrombocytopenia, Arthritis, Macrocytic anemia, Elevated circulating C-reactive protein concentra... |
OMIM:301054 |
| Recon Progeroid Syndrome |
|
Joint laxity, Thrombocytopenia, Keratoconjunctivitis sicca, Anemia |
OMIM:620370 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated circulating alpha-fetoprotein concentration, Splenomegaly, Generalized aminoaciduria, Hy... |
OMIM:251880 |
| 22Q11.2 Deletion Syndrome |
|
Short neck, Hypoplasia of the thymus, Hypocalcemia, Vesicoureteral reflux, Hypospadias, Abnormal ... |
ORPHA:567 |
| Monosomy 9Q22.3 |
|
Cataract, Accelerated skeletal maturation, Short neck, Kyphosis, Large for gestational age, Joint... |
ORPHA:77301 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Osteomyelitis, Decreased proportion of naive T cells, Osteomalacia, Elevated circulating C-reacti... |
OMIM:619381 |
| Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... |
ORPHA:67043 |
| Incontinentia Pigmenti |
|
Short stature, Eosinophilia, Leukocytosis, Erythema, Pallor |
OMIM:308300 |
| Fanconi Anemia |
|
Pyridoxine-responsive sideroblastic anemia, Renal insufficiency, Cataract, Hydroureter, Hypospadi... |
ORPHA:84 |
| Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... |
OMIM:225200 |
| Immunodeficiency 40 |
|
T lymphocytopenia, Eosinophilic granuloma, Thrombocytopenia |
OMIM:616433 |
| Hoyeraal-Hreidarsson Syndrome |
|
Abnormal leukocyte morphology, Thrombocytopenia, Failure to thrive, Anemia |
ORPHA:3322 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Hemolytic anemia, Splenomegaly, Ankle clonus, Neutropenia, Failure to thrive, Thrombocytopenia |
OMIM:308230 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Limb joint contracture, Splenomegaly, Flexion contracture, Truncal obesity, Scoliosis, Thrombocyt... |
OMIM:301072 |
| Common Variable Immunodeficiency |
|
Splenomegaly, Hemolytic anemia, Lymphopenia, Autoimmune thrombocytopenia |
ORPHA:1572 |
| Tyrosinemia, Type I |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Growth delay, P... |
OMIM:276700 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Normochromic anemia, Small for gestational age, Elevated circulating creatine kinase concentratio... |
OMIM:618775 |
| Maternal Uniparental Disomy Of Chromosome 6 |
|
Inguinal hernia, Accelerated bone age after puberty, Thrombocytopenia |
ORPHA:96181 |
| Immunodeficiency 25 |
|
T lymphocytopenia, Autoimmune hemolytic anemia, Eosinophilia |
OMIM:610163 |
| Gaucher Disease, Perinatal Lethal |
|
Splenomegaly, Hepatosplenomegaly, Anemia, Decreased body weight, Arthrogryposis multiplex congeni... |
OMIM:608013 |
| Alagille Syndrome 1 |
|
Posterior embryotoxon, Cataract, Hypertriglyceridemia, Failure to thrive, Band keratopathy, Multi... |
OMIM:118450 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Wormian bones, Cataract, Hypospadias, Vesicoureteral reflux, Horseshoe kidney, Obesity, Tracheoma... |
ORPHA:444077 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Pallor |
ORPHA:276621 |
| Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Renal insufficiency, Hypospadias, Obesity, Aniridia, Nephropathy |
OMIM:194072 |
| Sponastrime Dysplasia |
|
Delayed epiphyseal ossification, Generalized joint laxity, Ivory epiphyses of the phalanges of th... |
ORPHA:93357 |
| Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Cataract, Band keratopathy, Enamel hypomineralization, Bicarbonaturia, Bicarbo... |
ORPHA:47159 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Impaired ADP-in... |
OMIM:153670 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Osteopenia, Moderate albuminuria, Dentinogenesis imperfecta, Obesity, Platyspondyly, Scoliosis, L... |
OMIM:619269 |
| Frontometaphyseal Dysplasia 2 |
|
Hip contracture, Neurogenic bladder, Congenital hip dislocation, Elbow contracture, Fused cervica... |
OMIM:617137 |
| Ataxia-Telangiectasia |
|
Conjunctival telangiectasia, Failure to thrive, Elevated circulating alpha-fetoprotein concentrat... |
OMIM:208900 |
| Neuroleptic Malignant Syndrome |
|
Hyponatremia, Proteinuria, Urinary incontinence, Elevated circulating creatine kinase concentrati... |
ORPHA:94093 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Optic atrophy, Abnormal hemoglobin, Anemia |
ORPHA:847 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Reticulocytosis, Anuria, Leukocytosis, Schistocytosis, Elevated circulating creatin... |
ORPHA:90038 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Kyphosis, Flexion contracture, Osteoporosis, Increased body weight, Abdominal obesity... |
ORPHA:398069 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Thrombocytopenia |
OMIM:617710 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Elevated circulating C-reactive protein concentration, Decreased mean platelet volume, Lymphocyto... |
OMIM:617718 |
| Immune Thrombocytopenia |
|
Thrombocytopenia |
ORPHA:3002 |
| Acquired Purpura Fulminans |
|
Thrombocytopenia, Elevated circulating C-reactive protein concentration |
ORPHA:49566 |
| Jacobsen Syndrome |
|
Multicystic kidney dysplasia, Cataract, Inguinal hernia, Short neck, Hip dislocation, Abnormal fo... |
ORPHA:2308 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Decreased hemoglobin concentration, Kyphosis, Scoliosis, Decreased body weight, Micropenis, Throm... |
OMIM:619005 |
| Kabuki Syndrome |
|
Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Congenital diaphragmatic hernia, V... |
ORPHA:2322 |
| Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Pallor |
ORPHA:137675 |
| Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Pancytopenia, Cataract, Hypospadias, Phimosis, Thrombocytopenia, Urethral... |
OMIM:305000 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia, Leukocytosis, Thrombocytopenia |
ORPHA:83601 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hemolytic anemia, Leukocytosis, Pallor, Pancreatitis, Thrombocytopenia |
ORPHA:544482 |
| Platelet Disorder, Undefined |
|
Impaired platelet aggregation, Thrombocytopenia |
OMIM:173420 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Splenomegaly, Thrombocytopenia |
OMIM:619463 |
| Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Pancreatic cysts, Pallor, Polycythemia |
ORPHA:892 |
| Holocarboxylase Synthetase Deficiency |
|
Hyperammonemia, Organic aciduria, Elevated urinary 3-methylcrotonylglycine level, 3-hydroxyisoval... |
OMIM:253270 |
| Sarcoidosis |
|
Hemolytic anemia, Renal insufficiency, Cataract, Hypercalcemia, Eosinophilia, Scarring, Thrombocy... |
ORPHA:797 |
| Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis |
OMIM:300367 |
| Autoimmune Lymphoproliferative Syndrome |
|
Reticulocytosis, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Hyperspl... |
ORPHA:3261 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Cataract, Transient neutropenia, Chronic neutropenia, Inguinal hern... |
ORPHA:500095 |
| Aspartylglucosaminuria |
|
Joint laxity, Cataract, Aspartylglucosaminuria, Kyphosis, Delayed skeletal maturation, Vacuolated... |
OMIM:208400 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Ketonuria, Megaloblastic anemia, ... |
ORPHA:79282 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Pancytopenia, Splenomegaly, Leukocytosis, Optic atrophy, Hepatosplenomegaly, Leukopenia, Thromboc... |
OMIM:615688 |
| Sotos Syndrome |
|
Joint laxity, Accelerated skeletal maturation, Increased body weight, Genu valgum, Overgrowth, Sc... |
OMIM:117550 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Thrombocytopenia, High nonceruloplasmin-bound serum copper, Scoliosis |
ORPHA:457351 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Thrombocytopenia, Aminoaciduria, Anemia, Elevated hepatic iron concentration |
OMIM:614946 |
| Prolactinoma |
|
Pallor, Delayed puberty |
ORPHA:2965 |
| Catastrophic Antiphospholipid Syndrome |
|
Arthritis, Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia, Avascular necrosi... |
ORPHA:464343 |
| Deeah Syndrome |
|
Decreased hemoglobin concentration, Cervical hemivertebrae, Short neck, Delayed skeletal maturati... |
OMIM:619004 |
| Immunodeficiency 87 And Autoimmunity |
|
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Hypertriglyceridemia... |
OMIM:619573 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Normoch... |
OMIM:254900 |
| Marburg Hemorrhagic Fever |
|
Back pain, Reticulocytosis, Renal insufficiency, Lymphopenia, Elevated circulating creatine kinas... |
ORPHA:99826 |
| Immunodeficiency 17 |
|
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, T lymphocytopenia, Abn... |
OMIM:615607 |
| Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Aplasia of the thymus, T lymphocytopenia, Coombs-positive ... |
ORPHA:83471 |
| Digeorge Syndrome |
|
Pilonidal sinus, Renal insufficiency, Femoral hernia, Inguinal hernia, Sclerocornea, Unilateral r... |
OMIM:188400 |
| Hardikar Syndrome |
|
Renal insufficiency, Hydroureter, Thoracolumbar scoliosis, Hypersplenism, Splenomegaly, Osteoporo... |
OMIM:301068 |
| Blue Rubber Bleb Nevus |
|
Pathologic fracture, Iron deficiency anemia, Thrombocytopenia |
OMIM:112200 |
| Q Fever |
|
Osteomyelitis, Splenomegaly, Hepatosplenomegaly, Hematuria, Anemia, Weight loss, Granuloma, Throm... |
ORPHA:781 |
| Mody |
|
Elevated hemoglobin A1c, Large for gestational age, Overweight, Abnormal circulating C-peptide co... |
ORPHA:552 |
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Dicarboxylic aciduria, Thrombocytopenia |
OMIM:611126 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Pallor |
ORPHA:29072 |
| Primary Sjögren Syndrome |
|
Normocytic anemia, Renal insufficiency, Glomerulonephritis, Polyarticular arthropathy, Tubulointe... |
ORPHA:289390 |
| Oculoauricular Syndrome |
|
Posterior embryotoxon, Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Po... |
OMIM:612109 |
| Pseudo-Torch Syndrome 2 |
|
Abnormal renal corticomedullary differentiation, Thrombocytopenia |
OMIM:617397 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Pancytopenia, Thrombocytopenia |
OMIM:613987 |
| Tick-Borne Encephalitis |
|
Back pain, Stiff neck, Elevated circulating C-reactive protein concentration, Leukocytosis, Limb ... |
ORPHA:297 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Failure to thrive, Membranoproliferative glomerulonephritis, Inguinal hernia, Microscopic hematur... |
OMIM:619525 |
| Multiple Endocrine Neoplasia Type 2 |
|
Neoplasm of the liver, Pallor |
ORPHA:653 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:301040 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Obesity |
ORPHA:209902 |
| Nijmegen Breakage Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Cachexia, Short neck, Acute leukemia, Pollakisuria... |
ORPHA:647 |
| Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Pancytopenia, Increased circulating ferritin concentration, Thrombocytopenia, S... |
OMIM:615846 |
| Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system |
OMIM:257910 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Inguinal hernia, Hypospadias, Unilateral renal agenesis, Increased mean platelet volume, Flexion ... |
ORPHA:487796 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Abnormally ossified vertebrae, Abnormal intervertebral disk morphology, Hydroureter, ... |
ORPHA:2636 |
| Agammaglobulinemia, X-Linked |
|
T lymphocytopenia, Conjunctivitis, B lymphocytopenia, Neutropenia, Septic arthritis, Anemia |
OMIM:300755 |
| Aicardi-Goutières Syndrome |
|
Multiple joint contractures, Lipoatrophy, Neonatal alloimmune thrombocytopenia, Developmental gla... |
ORPHA:51 |
| Caroli Syndrome |
|
Liver abscess, Conjugated hyperbilirubinemia, Conjunctival icterus, Leukocytosis, Hypersplenism, ... |
ORPHA:480520 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Pancytopenia, Corneal opacity, Cachexia, Abnormality of the spleen, Thrombocytopenia, Splenomegal... |
ORPHA:2072 |
| Bardet-Biedl Syndrome 20 |
|
Proteinuria, Obesity, Astigmatism, Hypercholesterolemia, Micropenis |
OMIM:619471 |
| Thrombocytopenia 1 |
|
Joint hemorrhage, Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent throm... |
OMIM:313900 |
| Alternating Hemiplegia Of Childhood |
|
Pallor |
ORPHA:2131 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Patent du... |
OMIM:300967 |
| Low Phospholipid-Associated Cholelithiasis |
|
Overweight, Hypercholesterolemia, Liver abscess, Obesity |
ORPHA:69663 |
| Aicardi-Goutieres Syndrome 1 |
|
Splenomegaly, Thrombocytopenia |
OMIM:225750 |
| Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... |
ORPHA:91495 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Optic nerve hypoplasia, Retinal detachment, Remnants of the hyaloid vascular system, Retinal dysp... |
OMIM:614643 |
| Generalized Arterial Calcification Of Infancy |
|
Abnormality of the knee, Hyperphosphaturia, Failure to thrive in infancy, Osteomalacia, Abnormal ... |
ORPHA:51608 |
| Nijmegen Breakage Syndrome |
|
Conjunctival telangiectasia, Autoimmune hemolytic anemia, T lymphocytopenia, B lymphocytopenia, H... |
OMIM:251260 |
| Mogs-Cdg |
|
Thoracic scoliosis, Thrombocytopenia, Hepatosplenomegaly |
ORPHA:79330 |
| Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Splenomegaly, Autoimmune hemolytic an... |
OMIM:614162 |
| Gaucher Disease, Type Ii |
|
Splenomegaly, Thrombocytopenia, Failure to thrive, Anemia |
OMIM:230900 |
| Esophageal Atresia |
|
Growth delay, Pallor |
ORPHA:1199 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hyperextensibility of the finger joints, Hypospadias, Thrombocytopenia, Hypocalcemia, Hyperbiliru... |
ORPHA:163979 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Sacral dimple, Inguinal hernia, Short neck, Hip dislocation, Cervical C5/C6 vertebrae fusion, Cam... |
OMIM:613458 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Increased urinary cortisol level, Dorsocervical fat pad, Paradoxical increased cortisol secretion... |
ORPHA:99889 |
| Systemic Lupus Erythematosus |
|
Hemolytic anemia, Proteinuria, Lupus nephritis, Pyuria, Hematuria, Arthritis, Leukopenia, Thrombo... |
ORPHA:536 |
| Ogden Syndrome |
|
Global glomerulosclerosis, Prominent metopic ridge, Congenital hip dislocation, Inguinal hernia, ... |
OMIM:300855 |
| Liver Disease, Severe Congenital |
|
Leukopenia, Aminoaciduria, Hypocalcemia, Lymphocytosis, Elevated hepatic iron concentration, Join... |
OMIM:619991 |
| Insulinoma |
|
Increased body weight |
ORPHA:97279 |
| Faciocardiomelic Syndrome |
|
Osteopenia, Dysharmonic bone age, Large for gestational age, Cuboid-shaped vertebral bodies, Thin... |
OMIM:612731 |
| Rift Valley Fever |
|
Back pain, Thrombocytopenia, Hematuria, Anemia |
ORPHA:319251 |
| Elsahy-Waters Syndrome |
|
Cataract, Hypospadias, Cervical C2/C3 vertebral fusion, Megalocornea, Penoscrotal hypospadias |
OMIM:211380 |
| Yellow Fever |
|
Low back pain, Renal insufficiency, Anuria, Neutrophilia, Elevated circulating creatine kinase co... |
ORPHA:99829 |
| Whim Syndrome |
|
Lymphopenia, Abnormal neutrophil morphology, Neutropenia |
ORPHA:51636 |
| Tsh-Secreting Pituitary Adenoma |
|
Pallor, Delayed puberty |
ORPHA:91347 |
| Retinitis Pigmentosa 74 |
|
Posterior polar cataract, Obesity |
OMIM:616562 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Thrombocytopenia |
ORPHA:572798 |
| Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Hematuria, Neonatal alloimmune thrombocytopenia |
ORPHA:853 |
| Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Increased body weight |
ORPHA:64745 |
| Good Syndrome |
|
Abnormal leukocyte morphology, Thrombocytopenia, Anemia |
ORPHA:169105 |
| Thrombocytopenia 3 |
|
Thrombocytopenia, Decreased mean platelet volume |
OMIM:273900 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Retinal nonattachment, Remnants of the hyaloid vascular system, Iris coloboma |
OMIM:221900 |
| Kikuchi-Fujimoto Disease |
|
Elevated circulating C-reactive protein concentration, Thrombocytopenia, Splenomegaly, Weight los... |
ORPHA:50918 |
| Crimean-Congo Hemorrhagic Fever |
|
Pancytopenia, Stiff neck, Proteinuria, Elevated circulating creatine kinase concentration, Neutro... |
ORPHA:99827 |
| Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Remnants of the hyaloid vascular system |
ORPHA:2714 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Renal insufficiency, Hypersplenism, Thrombocytopenia, Splenomegaly, Stage 5 chronic... |
ORPHA:731 |
| Acromelic Frontonasal Dysostosis |
|
Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:603671 |
| Craniofacial Microsomia 1 |
|
Multicystic kidney dysplasia, Block vertebrae, Ectopic kidney, Hemivertebrae, Vesicoureteral refl... |
OMIM:164210 |
| Noonan Syndrome 1 |
|
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Hypospadias, Failure to thriv... |
OMIM:163950 |
| Exercise-Induced Malignant Hyperthermia |
|
Elevated circulating creatine kinase concentration, Hyperkalemia, Oliguria, Hyperphosphatemia, Hy... |
ORPHA:466650 |
| Goodpasture Syndrome |
|
Pallor, Anemia |
OMIM:233450 |
| Pierson Syndrome |
|
Retinal detachment, Posterior lenticonus, Remnants of the hyaloid vascular system, Retinal hemorr... |
OMIM:609049 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Thrombocytopenia, Weight loss |
ORPHA:79078 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Pallor |
OMIM:253280 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Patent ductus arteriosus, Pallor |
ORPHA:99125 |
| Leptospirosis |
|
Cellular urinary casts, Hyperproteinemia, Conjunctival hyperemia, Acute kidney injury, Thrombocyt... |
ORPHA:509 |
| Full Nf2-Related Schwannomatosis |
|
Remnants of the hyaloid vascular system |
ORPHA:637 |
| Microphthalmia, Syndromic 2 |
|
Retinal detachment, Remnants of the hyaloid vascular system, Iris coloboma |
OMIM:300166 |
| Holoprosencephaly 2 |
|
Cyclopia, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma |
OMIM:157170 |
| Acute Liver Failure |
|
Thrombocytopenia, Acute kidney injury, Hyperammonemia |
ORPHA:90062 |
| Neuroocular Syndrome |
|
Lens coloboma, Remnants of the hyaloid vascular system, Iris coloboma |
OMIM:619539 |
| Carney Complex |
|
Dorsocervical fat pad, Increased body weight, Increased circulating cortisol level, Abdominal obe... |
ORPHA:1359 |
| Norrie Disease |
|
Remnants of the hyaloid vascular system, Retinal detachment, Optic atrophy |
ORPHA:649 |
