| Chudley-Mccullough Syndrome |
|
Polymicrogyria, Partial agenesis of the corpus callosum, Hydrocephalus, Gray matter heterotopia, ... |
OMIM:604213 |
| Lissencephaly 3 |
|
Polymicrogyria, Gray matter heterotopia, Ventriculomegaly, Pachygyria, Agyria, Lissencephaly, Per... |
OMIM:611603 |
| Sub-Cortical Nodular Heterotopia |
|
Polymicrogyria, Agenesis of corpus callosum, Abnormality of neuronal migration, Subcortical heter... |
ORPHA:101029 |
| Fetal Cytomegalovirus Syndrome |
|
Hepatomegaly, Splenomegaly, Anemia |
ORPHA:294 |
| Lissencephaly, X-Linked, 1 |
|
Gray matter heterotopia, Pachygyria, Agyria, Lissencephaly, Agenesis of corpus callosum |
OMIM:300067 |
| Lissencephaly 1 |
|
Gray matter heterotopia, Ventriculomegaly, Pachygyria, Agyria, Lissencephaly, Subcortical band he... |
OMIM:607432 |
| Band Heterotopia |
|
Polymicrogyria, Hydrocephalus, Lateral ventricle dilatation, Gray matter heterotopia, Ventriculom... |
OMIM:600348 |
| Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
| Isolated Lissencephaly Type 1 Without Known Genetic Defects |
|
Enlarged sylvian cistern, Ventriculomegaly, Gray matter heterotopia, Pachygyria, Agyria |
ORPHA:1084 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 3 |
|
Gray matter heterotopia, Pachygyria, Agyria, Lissencephaly, Subcortical band heterotopia |
OMIM:615411 |
| Microlissencephaly |
|
Polymicrogyria, Simplified gyral pattern, Subcortical heterotopia, Ventriculomegaly, Pachygyria, ... |
ORPHA:1083 |
| Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Polymicrogyria, Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:171703 |
| Mismatch Repair Cancer Syndrome 4 |
|
Agenesis of corpus callosum, Gray matter heterotopia |
OMIM:619101 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Neutrophilia, Hereditary |
|
Neutrophilia, Splenomegaly |
OMIM:162830 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Ventriculomegaly, Abnormality of neuronal migration, Hydrocephalus |
OMIM:618709 |
| Regional Odontodysplasia |
|
Abnormal dental pulp morphology, Mandibular pain, Carious teeth, Short dental root, Eruption fail... |
ORPHA:83450 |
| Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Hepatomegaly, Splenomegaly, Eosinophilia, Restrictive cardiomyopathy... |
OMIM:607685 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Pancytopenia, Decreased helper T cell proportion, Splenomegaly |
OMIM:183350 |
| Chiari Malformation Type Ii |
|
Cervical myelopathy, Myelomeningocele, Spina bifida, Hydrocephalus, Gray matter heterotopia, Cyan... |
OMIM:207950 |
| Nodular Neuronal Heterotopia |
|
Abnormality of neuronal migration |
ORPHA:2149 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Hepatomegaly, Splenomegaly, Anemia |
ORPHA:46532 |
| Hemoglobin H Disease |
|
HbH hemoglobin, Hemolytic anemia, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly |
OMIM:613978 |
| Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly |
OMIM:619813 |
| Bilateral Striopallidodentate Calcinosis |
|
Subcutaneous hemorrhage, Abnormality of neuronal migration, Ventriculomegaly |
ORPHA:1980 |
| Autosomal Recessive Primary Microcephaly |
|
Ventriculomegaly, Agenesis of corpus callosum, Pachygyria, Gray matter heterotopia |
ORPHA:2512 |
| Immunodeficiency 42 |
|
Hypoplasia of the thymus, Recurrent aphthous stomatitis, Hepatomegaly, Splenomegaly |
OMIM:616622 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Cryptorchidism, Anemia, Atrial septal defect, Perimembranous ventricular septal defect, Hypertrop... |
OMIM:620135 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 10 |
|
Lissencephaly, Periventricular ribbonlike heterotopia, Ventriculomegaly |
OMIM:618677 |
| Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
| Eosinophilia, Familial |
|
Leukocytosis, Anemia, Myocardial eosinophilic infiltration, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
| Thrombocytopenia 2 |
|
Thrombocytopenia, Leukocytosis |
OMIM:188000 |
| Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Splenomegaly, Jaundice |
OMIM:206400 |
| Immunodeficiency 104 |
|
Hepatomegaly, T lymphocytopenia, Lymphadenopathy, Splenomegaly, Oral ulcer |
OMIM:608971 |
| Periventricular Heterotopia With Microcephaly, Autosomal Recessive |
|
Periventricular nodular heterotopia, Periventricular heterotopia |
OMIM:608097 |
| Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Type II lissencephaly, Hydrocephalus, Occipital encephalocele, Gray matter heterotopia, Dysgyria |
ORPHA:352682 |
| Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
| Hemoglobin D Disease |
|
Abnormal hemoglobin, Anemia, Decreased mean corpuscular volume, HbS hemoglobin, Decreased mean co... |
ORPHA:90039 |
| Erythroleukemia, Familial, Susceptibility To |
|
Anemia, Leukemia, Hepatomegaly, Thrombocytopenia, Erythroid hyperplasia, Splenomegaly, Acute myel... |
OMIM:133180 |
| Polymicrogyria Due To Tubb2B Mutation |
|
Polymicrogyria, Lateral ventricle dilatation, Gray matter heterotopia, Pachygyria, Lissencephaly,... |
ORPHA:300573 |
| Amelogenesis Imperfecta |
|
Abnormal jaw morphology, Multiple unerupted teeth, Fragile teeth, Abnormality of permanent molar ... |
ORPHA:88661 |
| Subependymal Nodular Heterotopia |
|
Polymicrogyria, Partial agenesis of the corpus callosum, Myelomeningocele, Meningocele, Occipital... |
ORPHA:101030 |
| Immunodeficiency 16 |
|
Pancytopenia, Splenomegaly, Coombs-positive hemolytic anemia |
OMIM:615593 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatiti... |
ORPHA:444463 |
| Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Recurrent tonsillitis, Hepatomegaly, Microcytic anemia, Lymphadenopathy, Splenomegaly, Oral ulcer |
OMIM:618852 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Erythrocyte inclusion bodies, Persistence of hemoglobin F, Hepatomegaly, Microcytic anemia, Incre... |
OMIM:603902 |
| Lissencephaly 6 With Microcephaly |
|
Polymicrogyria, Partial agenesis of the corpus callosum, Microlissencephaly, Simplified gyral pat... |
OMIM:616212 |
| Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Thrombocytopenia, Splenomegaly, Anemia |
ORPHA:231393 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Splenomegaly |
OMIM:619175 |
| Congenital Disorder Of Glycosylation, Type Ik |
|
Hypogonadism, Cardiomyopathy, Hepatomegaly, Thin vermilion border, Micrognathia, Splenomegaly |
OMIM:608540 |
| Hyperbilirubinemia, Shunt, Primary |
|
Jaundice, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Erythroid hyperplasia, ... |
OMIM:237800 |
| Immunodeficiency 69 |
|
Hepatosplenomegaly, Leukocytosis, Anemia, Pancytopenia, Thrombocytosis, Splenomegaly |
OMIM:618963 |
| Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
| Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Extramedullary hematopoiesis, Anemia, Enlarged kidney, Hepatomegaly, Thrombocytopenia... |
OMIM:615285 |
| Dentin Dysplasia, Type I |
|
Oligodontia, Periapical bone loss, Taurodontia, Enamel hypoplasia, Microdontia, Short dental root... |
OMIM:125400 |
| Trimethylaminuria |
|
Neutropenia, Splenomegaly, Anemia |
OMIM:602079 |
| Autoimmune Hemolytic Anemia, Cold Type |
|
Abnormal leukocyte morphology, Splenomegaly, Hemolytic anemia |
ORPHA:228312 |
| Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Leukemia, Autoimmune thrombocytopenia, Hepatomegaly, Follicular hyperplasia, Pa... |
OMIM:614470 |
| Encephalopathy Due To Prosaposin Deficiency |
|
Hepatomegaly, Splenomegaly |
ORPHA:139406 |
| Immunodeficiency 84 |
|
Perianal abscess, B lymphocytopenia, Splenomegaly |
OMIM:619437 |
| Polymicrogyria With Optic Nerve Hypoplasia |
|
Colpocephaly, Polymicrogyria, Agenesis of corpus callosum, Dysplastic corpus callosum |
ORPHA:250972 |
| Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Anemia, Hypoplasia of penis, Narrow mouth, Thin vermilion border, Micrognathia, Hypospadias, Sple... |
ORPHA:1046 |
| Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Polymicrogyria, Simplified gyral pattern, Gray matter heterotopia, Pachygyria, Lissencephaly, Abn... |
OMIM:604317 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
| Myeloproliferative Syndrome, Transient |
|
Transient myeloproliferative syndrome, Leukocytosis |
OMIM:159595 |
| Hemochromatosis, Type 2B |
|
Hypogonadism, Anemia, Cardiomyopathy, Hepatic fibrosis, Hepatomegaly, Cirrhosis, Splenomegaly |
OMIM:613313 |
| Acalvaria |
|
Spina bifida, Holoprosencephaly, Abnormality of neuronal migration, Hydrocephalus |
ORPHA:945 |
| Infantile Sialic Acid Storage Disease |
|
Vacuolated lymphocytes, High palate, Hepatomegaly, Gingival overgrowth, Cardiomegaly, Splenomegal... |
OMIM:269920 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Intermittent jaundice, Reticulocytosis, Splenomegaly |
OMIM:179700 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Jaundice, Reticulocytosis, Anemia of inadequate production, Cholelithiasis, Splenomegaly |
OMIM:224100 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Macroorchidism |
OMIM:300886 |
| Osteopetrosis, Autosomal Dominant 3 |
|
Premature loss of teeth, Anemia, Hyperparathyroidism, Hepatomegaly, Gingivitis, Splenomegaly |
OMIM:618107 |
| Sea-Blue Histiocyte Disease |
|
Cirrhosis, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis |
OMIM:269600 |
| Immunodeficiency 52 |
|
Autoimmune thrombocytopenia, Increased proportion of gamma-delta T cells, Lymphopenia, Lymphadeno... |
OMIM:617514 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Splenomegaly, Anemia |
ORPHA:1802 |
| Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:604765 |
| Immunodeficiency 76 |
|
Lymphopenia, Lymphadenopathy, B lymphocytopenia, Splenomegaly, T lymphocytopenia |
OMIM:619164 |
| Oligodontia |
|
Oligodontia, Widely spaced teeth, Short dental root, Agenesis of mandibular premolar, Delayed eru... |
ORPHA:99798 |
| Alpha-Thalassemia |
|
Jaundice, Hemolytic anemia, Abnormal hemoglobin, Anemia, Microcytic anemia, Hypersplenism, Cholel... |
ORPHA:846 |
| Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Lissencephaly, Simplified gyral pattern, Cyanotic episode, Lateral ventricle dilatation |
ORPHA:284417 |
| Seizures, Benign Familial Infantile, 3 |
|
Cyanosis |
OMIM:607745 |
| Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Hepatomegaly, Splenomegaly, Fetal ascites |
OMIM:619462 |
| Lissencephaly 5 |
|
Type II lissencephaly, Hydrocephalus, Occipital encephalocele, Gray matter heterotopia, Subcortic... |
OMIM:615191 |
| Tyrosinemia Type 1 |
|
Hepatocellular carcinoma, Hepatomegaly, Splenomegaly |
ORPHA:882 |
| Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Leukocytosis, Anemia |
OMIM:619398 |
| Congenital Toxoplasmosis |
|
Jaundice, Anemia, Hepatomegaly, Thrombocytopenia, Lymphadenopathy, Cardiomegaly, Ascites |
ORPHA:858 |
| Seizures, Benign Familial Infantile, 1 |
|
Cyanosis |
OMIM:601764 |
| Immunodeficiency 48 |
|
Hepatomegaly, Absence of CD8-positive T cells, Splenomegaly |
OMIM:269840 |
| Oculocerebrocutaneous Syndrome |
|
Gray matter heterotopia, Dandy-Walker malformation, Orbital encephalocele, Agenesis of corpus cal... |
OMIM:164180 |
| Glutathionuria |
|
Agenesis of corpus callosum, Gray matter heterotopia |
OMIM:231950 |
| Amelogenesis Imperfecta, Type Ij |
|
Widely spaced teeth, Amelogenesis imperfecta, Enamel hypoplasia, Carious teeth, Increased overbite |
OMIM:617297 |
| Bullous Dystrophy, Hereditary Macular Type |
|
Acrocyanosis |
OMIM:302000 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Decreased proportion of class-switched memory B cells, Increased proportion of transitional B cel... |
OMIM:615513 |
| Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Hyposegmentation of neutrophil nuclei, Leukocytosis, Normocytic anemia, Hypochromic anemia, Bone ... |
ORPHA:75564 |
| Hemochromatosis, Type 2A |
|
Cardiomyopathy, Hepatomegaly, Cirrhosis, Azoospermia, Hypogonadotropic hypogonadism, Dilated card... |
OMIM:602390 |
| Obsolete: Arnold-Chiari Malformation Type Ii |
|
Polymicrogyria, Partial agenesis of the corpus callosum, Myelomeningocele, Meningocele, Hydroceph... |
ORPHA:1136 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Simplified gyral pattern, Partial agenesis of the corpus callosum, Periventricular heterotopia |
OMIM:616171 |
| Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Jaundice, Oligodontia, Cholestasis, Hepatomegaly, Portal hypertension, Hypodontia, Abnormal denta... |
ORPHA:59303 |
| Mulibrey Nanism |
|
Hypoplastic frontal sinuses, Hepatomegaly, Enamel hypoplasia, Absent frontal sinuses, Dental crow... |
OMIM:253250 |
| Hemochromatosis, Type 1 |
|
Hepatocellular carcinoma, Testicular atrophy, Cardiomyopathy, Hepatomegaly, Cirrhosis, Azoospermi... |
OMIM:235200 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased CD4:CD8 ratio, Mediastinal lymphadenopathy, Autoimmune thrombocytopenia, Lymphadenopath... |
OMIM:300853 |
| Hemimegalencephaly |
|
Polymicrogyria, Abnormal neuron morphology, Ventriculomegaly, Gray matter heterotopia, Pachygyria |
ORPHA:99802 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Jaundice, Hemophagocytosis, Anemia, Hepatomegaly, Thrombocytopenia, Lymphadenopathy, Splenomegaly... |
OMIM:603552 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Splenomegaly |
OMIM:616452 |
| Mast Cell Sarcoma |
|
Mediastinal lymphadenopathy, Hepatomegaly, Lymphadenopathy, Mastocytosis, Splenomegaly |
ORPHA:66661 |
| Perching Syndrome |
|
Cyanosis |
OMIM:617055 |
| Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Hepatomegaly, Splenomegaly, Hepatic steatosis |
OMIM:614480 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly, Thin upper lip vermilion, Enamel hypoplasia |
OMIM:613576 |
| Sickle Cell Disease |
|
Jaundice, Leukocytosis, Target cells, Hemolytic anemia, Splenic infarction, Hepatomegaly, Choleli... |
OMIM:603903 |
| Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Ventricular septal defect, Downturned corners of mouth, Bilateral cryptorch... |
OMIM:618652 |
| Spherocytosis, Type 5 |
|
Jaundice, Reticulocytosis, Hemolytic anemia, Abnormal platelet count, Abnormal leukocyte count, S... |
OMIM:612690 |
| Isolated Anencephaly |
|
Cleft lip, Thymus hyperplasia |
ORPHA:563609 |
| Acute Myelomonocytic Leukemia |
|
Leukocytosis, Anemia, Eosinophilia, Thrombocytopenia, Abnormality of the gingiva |
ORPHA:517 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
HbH hemoglobin, Microcytic anemia, Thrombocytopenia, Acute leukemia, Splenomegaly, Neutropenia |
ORPHA:231401 |
| Neonatal Severe Primary Hyperparathyroidism |
|
Hepatomegaly, Splenomegaly |
ORPHA:417 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hepatosplenomegaly, Hemophagocytosis, Anemia, Thrombocytopenia, Lymphadenopathy, Splenomegaly, Re... |
OMIM:613101 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Intermittent thrombocytopenia, Abscess, Recurrent aphthous stomatitis, Neutropenia, B lymphocytop... |
OMIM:150550 |
| Galactose Epimerase Deficiency |
|
Jaundice, Hepatomegaly, Splenomegaly |
ORPHA:79238 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anisocytosis, Jaundice, Reticulocytosis, Anemia, Hepatomegaly, Anemia of inadequate production, E... |
OMIM:615631 |
| Dentinogenesis Imperfecta |
|
Grayish enamel, Abnormal dental pulp morphology, Selective tooth agenesis, Fragile teeth, Persist... |
ORPHA:49042 |
| Mu-Heavy Chain Disease |
|
Abnormal B cell count, Anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly |
ORPHA:100024 |
| Chronic Myeloid Leukemia |
|
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Abn... |
ORPHA:521 |
| Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal hypertension, Hepatomegaly, Splenomegaly, Portal vein thrombosis |
OMIM:610293 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Generalized lymphadenopathy, Absent tonsils, Hepatomegaly, Lymphopenia, Aplasia of the thymus, Eo... |
OMIM:602450 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, Asplenia, Persistence of hemoglobin F, HbS hemoglobin, Hypochromic microcytic an... |
ORPHA:251380 |
| Phosphoserine Aminotransferase Deficiency |
|
Cyanotic episode |
OMIM:610992 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly |
ORPHA:86893 |
| Niemann-Pick Disease, Type B |
|
Anemia, Bone-marrow foam cells, Hepatomegaly, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly |
OMIM:607616 |
| Splenoportal Vascular Anomalies |
|
Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Splenomegaly, Ascites |
OMIM:271500 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Microlissencephaly, 4-layered lissencephaly, Agenesis of corpus callosum, Abnormality of neuronal... |
ORPHA:89844 |
| Galactosemia Iii |
|
Jaundice, Hepatomegaly, Splenomegaly |
OMIM:230350 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Anemia, Hepatomegaly, Hypersplenism, Thrombocytopenia, Splenomegaly |
OMIM:610539 |
| Gray Platelet Syndrome |
|
Thrombocytopenia, Splenomegaly |
ORPHA:721 |
| Hemoglobin E Disease |
|
Increased red blood cell count, Abnormal hemoglobin, Decreased mean corpuscular volume, Hypochrom... |
ORPHA:2133 |
| Brain Small Vessel Disease 2 |
|
Ventriculomegaly, Polymicrogyria, Subcortical heterotopia |
OMIM:614483 |
| Familial Cold Autoinflammatory Syndrome 2 |
|
Recurrent aphthous stomatitis, Lymphadenopathy, Leukocytosis, Splenomegaly |
OMIM:611762 |
| Portal Hypertension, Noncirrhotic, 1 |
|
Portal hypertension, Hepatomegaly, Splenomegaly |
OMIM:617068 |
| Ataxia-Pancytopenia Syndrome |
|
Abnormal macrophage morphology, Abnormality of neutrophils, Hypoplastic anemia, Pancytopenia, Acu... |
ORPHA:2585 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Autoimmune hem... |
OMIM:619220 |
| Neuraminidase Deficiency |
|
Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomyopathy, Hepatomegaly, Cardiomegaly, Splen... |
OMIM:256550 |
| Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Ventriculomegaly, Corticospinal tract hypoplasia, Pachygyria, Agenesis of corpus callosum, Perive... |
ORPHA:255138 |
| Symmetrical Thalamic Calcifications |
|
Abnormality of neuronal migration |
ORPHA:1314 |
| Polycythemia Vera |
|
Leukocytosis, Increased red blood cell mass, Splenomegaly, Thrombocytopenia, Increased hematocrit... |
OMIM:263300 |
| Beta-Thalassemia |
|
Anemia, Abnormal hemoglobin, Hepatomegaly, Microcytic anemia, Hepatitis, Thrombocytopenia, Hypogo... |
ORPHA:848 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Cholestasis, Jaundice, Hepatomegaly, Splenomegaly |
OMIM:620010 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Leukopenia, Ventricular septal defect, Hepatomegaly, Lymphopenia, Cleft palate, Splenomegaly |
OMIM:620210 |
| Hurler-Scheie Syndrome |
|
Cardiomyopathy, Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Spleno... |
ORPHA:93476 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypogonadism, Anemia, Decreased mean corpuscular volume, Hypochromia, Hepatomegaly, Azoospermia, ... |
OMIM:615234 |
| Maternal Hyperthermia-Induced Birth Defects |
|
Abnormality of neuronal migration |
ORPHA:2216 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Decreased proportion o... |
OMIM:615559 |
| Immunodeficiency 27A |
|
Hepatosplenomegaly, Leukocytosis, Anemia, Histiocytosis, Lymphadenopathy, Thrombocytosis, Enlarge... |
OMIM:209950 |
| Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Colpocephaly, Hydrocephalus, Communicating hydrocephalus, Simplified gyral pattern, Gray matter h... |
OMIM:615219 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Type II lissencephaly, Polymicrogyria, Partial agenesis of the corpus callosum, Hy... |
OMIM:614643 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Hepatosplenomegaly, Cervical lymphadenopathy, Autoimmune thrombocytopenia, Increased proportion a... |
OMIM:618534 |
| Transaldolase Deficiency |
|
Hepatosplenomegaly, Atrial septal defect, Ventricular septal defect, Anemia, Deep philtrum, Hepat... |
OMIM:606003 |
| Lymphoproliferative Syndrome 1 |
|
Leukopenia, Stomatitis, Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Hepatom... |
OMIM:613011 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Mandibular prognathia, Everted lower lip vermilion, Protruding tongue, Aortic valve stenosis, Smo... |
ORPHA:324410 |
| Alpha-Heavy Chain Disease |
|
Anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Ascites |
ORPHA:100025 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reduced red cell pyruvate kinase level, Anisocytosis, Reticulocytosis, Anemia, Abnormal erythrocy... |
ORPHA:766 |
| Thrombocythemia 1 |
|
Splenomegaly, Thrombocytosis |
OMIM:187950 |
| Pfapa Syndrome |
|
Abnormal oral cavity morphology, Hepatomegaly, Lymphadenopathy, Splenomegaly |
ORPHA:42642 |
| Erythrocytosis, Familial, 8 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin, Splenomegaly |
OMIM:222800 |
| Aicardi-Goutieres Syndrome 6 |
|
Thrombocytopenia, Hepatomegaly, Splenomegaly, Hemolytic anemia |
OMIM:615010 |
| Congenital Muscular Dystrophy Without Intellectual Disability |
|
Ventriculomegaly, Pachygyria, Gray matter heterotopia |
ORPHA:370980 |
| Leishmaniasis |
|
Abnormal macrophage morphology, Leukopenia, Anemia, Hepatomegaly, Abnormal oral cavity morphology... |
ORPHA:507 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Hepatomegaly, Abnormal ly... |
OMIM:612840 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatosplenomegaly, Anisocytosis, Jaundice, Anemia, Decreased mean corpuscular volume, Hypochromi... |
OMIM:616860 |
| Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
High palate, Retrognathia, Mandibular prognathia, Hepatomegaly, Splenomegaly |
OMIM:615637 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Biliary tract abnormality, Jaundice, Neonatal cholestatic liver disease, Hepatomegaly, Cirrhosis,... |
ORPHA:79301 |
| Cyanosis, Transient Neonatal |
|
Cyanosis, Jaundice |
OMIM:613977 |
| Walker-Warburg Syndrome |
|
Abnormal cortical gyration, Polymicrogyria, Macrogyria, Hydrocephalus, Dandy-Walker malformation,... |
ORPHA:899 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Jaundice, Reticulocytosis, Normocytic anemia, Normochromic anemia, Cholecystitis, Nonspherocytic ... |
OMIM:235700 |
| Follicular Lymphoma |
|
Mediastinal lymphadenopathy, Abnormality of the peritoneum, Lymphadenopathy, Splenomegaly |
ORPHA:545 |
| Autoimmune Lymphoproliferative Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Increased proportion of HLA DR+ T cells, Au... |
OMIM:601859 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion, Carious teet... |
OMIM:204700 |
| Lymphoproliferative Syndrome 2 |
|
Hepatosplenomegaly, Aplastic anemia, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Pancytopeni... |
OMIM:615122 |
| Schnitzler Syndrome |
|
Leukocytosis, Anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly |
ORPHA:37748 |
| Hodgkin Lymphoma |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly |
ORPHA:98293 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Jaundice, Anisopoikilocytosis, Reticulocytosis, Increased mean corpuscular hemoglobin concentrati... |
OMIM:616689 |
| Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Jaundice, Hepatomegaly, Anemia of inadequate production, Carious teeth, Splenomegaly, Exocrine pa... |
OMIM:612714 |
| Progressive Familial Intrahepatic Cholestasis |
|
Cholestasis, Jaundice, Hepatomegaly, Splenomegaly |
ORPHA:172 |
| Alpha-Mannosidosis |
|
Macroglossia, Craniofacial hyperostosis, Widely spaced teeth, Mandibular prognathia, Hepatomegaly... |
ORPHA:61 |
| Neuralgic Amyotrophy |
|
Acrocyanosis |
ORPHA:2901 |
| Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Anemia, Increased proportion of e... |
OMIM:619824 |
| Proteus-Like Syndrome |
|
Polycystic ovaries, Abnormality of the parathyroid gland, Mandibular prognathia, Thymus hyperplas... |
ORPHA:2969 |
| Nephronophthisis 19 |
|
Cholestasis, Bile duct proliferation, Hepatic fibrosis, Hepatomegaly, Splenomegaly, Malformation ... |
OMIM:616217 |
| Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Jaundice, Cholestasis, Hepatic bridging fibrosis, Hepatic fibrosis, Splenomegaly |
OMIM:619658 |
| Pseudo-Torch Syndrome 3 |
|
Leukocytosis, Anemia, Congenital thrombocytopenia, Lymphadenitis, Cardiomegaly |
OMIM:618886 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Reticulocytosis, Hemolytic anemia, Reduced platelet alpha granules, Increased RBC distribution wi... |
OMIM:314050 |
| Congenital Myopathy 8 |
|
Cardiomegaly, High palate |
OMIM:618654 |
| Immunodeficiency, Common Variable, 1 |
|
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of class-switched memo... |
OMIM:607594 |
| Immunodeficiency 32B |
|
Impaired oxidative burst, Anemia, Hepatomegaly, Eosinophilia, Sinusitis, Thrombocytopenia, Monocy... |
OMIM:226990 |
| Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
| 3-Hydroxyisobutyric Aciduria |
|
Abnormality of neuronal migration |
OMIM:236795 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Type II lissencephaly, Polymicrogyria, Hydrocephalus, Occipital encephalocele, Gray matter hetero... |
ORPHA:370959 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Cyanosis |
ORPHA:91130 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Decreased proportion of class-switched memory B cells, Autoimmune thrombocytopenia, Hepatomegaly,... |
OMIM:619375 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Cyanosis |
ORPHA:71277 |
| Spherocytosis, Type 1 |
|
Jaundice, Reticulocytosis, Hemolytic anemia, Spherocytosis, Cholelithiasis, Splenomegaly |
OMIM:182900 |
| Glut1 Deficiency Syndrome 2 |
|
Reticulocytosis, Splenomegaly, Hemolytic anemia |
OMIM:612126 |
| Mucopolysaccharidosis, Type Iiib |
|
Asymmetric septal hypertrophy, Cardiomegaly, Hepatomegaly, Splenomegaly |
OMIM:252920 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatosplenomegaly, Anisocytosis, Reticulocytosis, Micropenis, Hemolytic anemia, Anemia, Reduced ... |
OMIM:613673 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Hepatosplenomegaly, Hepatocellular carcinoma, Hemophagocytosis, Anemia, Prostate cancer, Acute ly... |
ORPHA:158057 |
| Familial Atrial Myxoma |
|
Jaundice, Bacterial endocarditis, Pulmonic valve myxoma, Cholestasis, Cardiac myxoma, Cardiomegal... |
ORPHA:615 |
| Otodental Syndrome |
|
Abnormal dental pulp morphology, Agenesis of premolar, Taurodontia, Abnormal dental enamel morpho... |
ORPHA:2791 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Aplastic anemia, Hemophagocytosis, Hepatomegaly, Hepatitis, Pancytopenia, Splenomegaly |
OMIM:300635 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Autoimmune hemolytic anemia, B lymphocytope... |
ORPHA:231154 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Retrognathia, Left atrial enlargement, Left ventricular hypertrophy, Cardiomyopathy, Ventricular ... |
OMIM:300280 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Cyanosis, Ventriculomegaly, Lateral ventricle dilatation, Dysplastic corpus callosum |
ORPHA:488627 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Jaundice, Hepatomegaly, Portal fibrosis, Splenomegaly, Acholic stools |
OMIM:619868 |
| Indolent Systemic Mastocytosis |
|
Abnormal mast cell morphology, Hepatomegaly, Lymphadenopathy, Mastocytosis, Increased proportion ... |
ORPHA:98848 |
| X-Linked Sideroblastic Anemia |
|
Splenomegaly, Anemia |
ORPHA:75563 |
| Immunodeficiency 54 |
|
Hepatomegaly, Reduced natural killer cell count, Lymphadenopathy, Adrenocorticotropic hormone exc... |
OMIM:609981 |
| Aicardi-Goutieres Syndrome 4 |
|
Hepatosplenomegaly, Hepatomegaly, Thrombocytopenia, Pancytopenia, Splenomegaly |
OMIM:610333 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hemophagocytosis, Recurrent aphthous stomatitis, Bone marrow hypocellularity, Autoimmune hemolyti... |
OMIM:301078 |
| Cholestasis-Lymphedema Syndrome |
|
Jaundice, Neonatal cholestatic liver disease, Hepatomegaly, Cirrhosis, Splenomegaly |
OMIM:214900 |
| Aredyld Syndrome |
|
Craniofacial hyperostosis, Mandibular prognathia, Hepatomegaly, Advanced eruption of teeth, Narro... |
ORPHA:1133 |
| Hb Bart'S Hydrops Fetalis |
|
Abnormal hemoglobin, Anemia, Hepatomegaly, Pericarditis, Splenomegaly |
ORPHA:163596 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Hepatomegaly, Splenomegaly |
ORPHA:2204 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Reduced red cell pyruvate kinase level, Jaundice, Reticulocytosis, Hepatomegaly, Decreased hemogl... |
OMIM:266200 |
| Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
| Zimmermann-Laband Syndrome |
|
Macroglossia, High palate, Bifid uvula, Hepatomegaly, Gingival fibromatosis, Micrognathia, Cleft ... |
ORPHA:3473 |
| Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Follicular hyperplasia, Lymphadenopathy, Splenomegaly, Recurrent sinusitis |
OMIM:240500 |
| Lethal Congenital Contracture Syndrome 10 |
|
Hypoplasia of the thymus, Macroglossia, High palate, Ventricular septal defect, Overriding aorta,... |
OMIM:617022 |
| Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Jaundice, Pigment gallstones, Spontaneous hemolytic crises, Impaired neutrophil bactericidal acti... |
OMIM:613470 |
| Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations |
|
Ventriculomegaly, Simplified gyral pattern, Periventricular heterotopia |
OMIM:618273 |
| Sickle Cell Anemia |
|
Reticulocytosis, Leukocytosis, Hemolytic anemia, Pigment gallstones, Hypochromic anemia, Cholesta... |
ORPHA:232 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatomegaly, Splenomegaly |
OMIM:616719 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
| Overhydrated Hereditary Stomatocytosis |
|
Anisocytosis, Reticulocytosis, Intermittent jaundice, Hemolytic anemia, Abnormal mean corpuscular... |
ORPHA:3203 |
| Amyloidosis, Familial Visceral |
|
Cholestasis, Hepatomegaly, Splenomegaly |
OMIM:105200 |
| Gamma-Heavy Chain Disease |
|
Abnormal palate morphology, Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abn... |
ORPHA:100026 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hepatosplenomegaly, Recurrent tonsillitis, Hemolytic anemia, Impaired oxidative burst, Abscess, G... |
OMIM:618935 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Jaundice, Hepatic fibrosis, Hepatomegaly, Portal fibrosis, Portal hypertension, Iron deficiency a... |
OMIM:616278 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Myeloproliferative disorder, Leukocytosis, Bone marrow hypocellularity, Hepatomegaly, Thrombocyto... |
ORPHA:3226 |
| Roifman Syndrome |
|
Noncompaction cardiomyopathy, Ventricular septal defect, Hepatomegaly, Eosinophilia, Downturned c... |
OMIM:616651 |
| Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Portal hypertension, Micronodular cirrhosis, Fi... |
OMIM:619849 |
| Immunodeficiency 97 With Autoinflammation |
|
Hepatosplenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of... |
OMIM:619802 |
| Cryohydrocytosis |
|
Stomatocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia |
OMIM:185020 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly |
OMIM:618495 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Anemia, Pancreatitis, Cardiomyopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly, Neutropenia |
ORPHA:79312 |
| Gaucher Disease, Type Iiic |
|
Hepatomegaly, Splenomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Mitral stenos... |
OMIM:231005 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatosplenomegaly, Pancreatic hypoplasia, Retrognathia, Cervical lymphadenopathy, Pulmonic steno... |
OMIM:602782 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomyocyte hypertrophy, Concentric hypertrophic cardiomyopathy, Right ventricular hypertrophy,... |
OMIM:618052 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Hepatosplenomegaly, Cholestatic liver disease, Hepatomegaly, Prolonged neonatal jaundice, Cirrhos... |
OMIM:616828 |
| Sea-Blue Histiocytosis |
|
Hepatomegaly, Sea-blue histiocytosis, Thrombocytopenia, Mediastinal lymphadenopathy, Splenomegaly |
ORPHA:158029 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Thrombocytopenia, Anisopoikilocytosis, Splenomegaly, Anemia |
OMIM:617441 |
| Amelogenesis Imperfecta, Type Ic |
|
Taurodontia, Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion,... |
OMIM:204650 |
| Leber Congenital Amaurosis |
|
Encephalocele, Abnormality of neuronal migration |
ORPHA:65 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Aplastic anemia, Hemophagocytosis, Hepatomegaly, Fulminant hepatitis, Thrombocytopenia, Lymphaden... |
OMIM:308240 |
| Immunodeficiency 7 |
|
Hypereosinophilia, Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Neut... |
OMIM:615387 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Cardiomegaly, Hypertrophic cardiomyopathy |
OMIM:614096 |
| Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Hydrocephalus, Holoprosencephaly, Ventriculomegaly, Abnormality of neuronal migration |
ORPHA:93274 |
| Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Amelogenesis imperfecta, Enamel hypoplasia, Yellow-brown discoloration of the... |
OMIM:616221 |
| Spherocytosis, Type 4 |
|
Jaundice, Reticulocytosis, Hemolytic anemia, Spherocytosis, Splenomegaly |
OMIM:612653 |
| Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Jaundice, Intrahepatic cholestasis, Portal inflammation, Bile duct proliferation, Hepatomegaly, C... |
OMIM:602347 |
| Alpha-1-Antitrypsin Deficiency |
|
Hepatocellular carcinoma, Splenomegaly, Cirrhosis |
OMIM:613490 |
| Pseudo-Torch Syndrome 2 |
|
Polymicrogyria, Lateral ventricle dilatation, Ventriculomegaly, Gray matter heterotopia, Petechiae |
OMIM:617397 |
| Classic Mycosis Fungoides |
|
Lymphadenopathy, Hepatomegaly, Abnormal lymphocyte morphology, Splenomegaly |
ORPHA:2584 |
| Glycogen Storage Disease Ixb |
|
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content |
OMIM:261750 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Thrombocytopenia, Hepatomegaly, Splenomegaly, Anemia |
OMIM:615085 |
| Juvenile Arthritis |
|
Leukocytosis, Thrombocytosis |
OMIM:618795 |
| Primary Myelofibrosis |
|
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Hepatomegaly, Portal hype... |
ORPHA:824 |
| Omenn Syndrome |
|
Hypoplasia of the thymus, Anemia, Severe B lymphocytopenia, Hepatomegaly, Eosinophilia, Thrombocy... |
OMIM:603554 |
| Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Pancytopenia, Splenomegaly |
OMIM:614979 |
| Congenital Disorder Of Deglycosylation 2 |
|
Polymicrogyria, Partial agenesis of the corpus callosum, Ventriculomegaly, Gray matter heterotopi... |
OMIM:619775 |
| Cholesteryl Ester Storage Disease |
|
Jaundice, Hepatomegaly, Splenomegaly, Cirrhosis |
ORPHA:75234 |
| Desmosterolosis |
|
Abnormal cortical gyration, Polymicrogyria, Macrogyria, Hydrocephalus, Ventriculomegaly, Pachygyr... |
ORPHA:35107 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
High palate, Cryptorchidism, Micropenis, Ventricular septal defect, Pulmonary lymphangiectasia, M... |
OMIM:235255 |
| Lig4 Syndrome |
|
Cryptorchidism, Leukocytosis, Hepatomegaly, Micrognathia, Hypoplasia of penis, Lymphadenopathy, P... |
ORPHA:99812 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatosplenomegaly, High palate, Cryptorchidism, Micropenis, Ventricular septal defect, Pulmonary... |
ORPHA:1655 |
| Gaucher Disease, Type Iii |
|
Thrombocytopenia, Hepatomegaly, Pancytopenia, Splenomegaly |
OMIM:231000 |
| Spherocytosis, Type 2 |
|
Jaundice, Reticulocytosis, Hemolytic anemia, Acanthocytosis, Spherocytosis, Splenomegaly |
OMIM:616649 |
| Mogs-Cdg |
|
Hepatosplenomegaly, High palate, Retrognathia, External genital hypoplasia, Left ventricular hype... |
ORPHA:79330 |
| Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Leukocytosis, Splenomegaly |
OMIM:618042 |
| Erythrocytosis, Familial, 1 |
|
Splenomegaly, Increased hematocrit, Increased hemoglobin, Increased red blood cell mass |
OMIM:133100 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Neutropenia in presence of anti-neutropil antibodies, Increased proportion of HLA DR+ T cells, Au... |
OMIM:603909 |
| Harderoporphyria |
|
Reticulocytosis, Hemolytic anemia, Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly |
OMIM:618892 |
| Benign Familial Infantile Epilepsy |
|
Cyanosis |
ORPHA:306 |
| Griscelli Syndrome Type 2 |
|
Jaundice, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Pancytopenia, Splenomegaly, Neutropenia |
ORPHA:79477 |
| Caspase 8 Deficiency |
|
Lymphadenopathy, Decreased CD4:CD8 ratio, Splenomegaly |
OMIM:607271 |
| Hepatoportal Sclerosis |
|
Hepatocellular carcinoma, Abnormality of the hepatic vasculature, Jaundice, Leukopenia, Abnormal ... |
ORPHA:64743 |
| Adult-Onset Still Disease |
|
Myocarditis, Generalized lymphadenopathy, Leukocytosis, Bone marrow hypocellularity, Hepatomegaly... |
ORPHA:829 |
| Attrv122I Amyloidosis |
|
Left ventricular hypertrophy, Anemia, Cardiac amyloidosis, Restrictive cardiomyopathy, Aortic val... |
ORPHA:85451 |
| Beta-Thalassemia Intermedia |
|
Hepatosplenomegaly, Hepatocellular carcinoma, Jaundice, Leukocytosis, Extramedullary hematopoiesi... |
ORPHA:231222 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Exercise-induced hemolysis, Jaundice, Reticulocytosis, Increased mean corpuscular hemoglobin conc... |
OMIM:194380 |
| Macrocephaly/Autism Syndrome |
|
High palate, Penile freckling, Hepatomegaly, Lymphopenia, Long philtrum, Hydrocele testis, Spleno... |
OMIM:605309 |
| Cholestasis-Lymphedema Syndrome |
|
Biliary tract abnormality, Jaundice, Neonatal cholestatic liver disease, Hepatomegaly, Cirrhosis,... |
ORPHA:1414 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatosplenomegaly, Hepatomegaly, Splenomegaly, Hepatic steatosis |
OMIM:612526 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Hepatosplenomegaly, Extramedullary hematopoiesis, Anemia, Mandibular prognathia, Persistence of p... |
OMIM:259710 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Hepatocellular carcinoma, Hepatomegaly, Portal hypertension, Thrombocytopenia, Nodular regenerati... |
OMIM:619463 |
| Congenital Pulmonary Lymphangiectasia |
|
Pulmonic stenosis, Hepatomegaly, Chylopericardium, Splenomegaly, Ascites |
ORPHA:2414 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatocellular carcinoma, Testicular atrophy, Cardiomyopathy, Hepatomegaly, Cirrhosis, Cholangioc... |
ORPHA:465508 |
| Unclassified Myelodysplastic Syndrome |
|
Bone marrow hypocellularity, Leukocytosis, Acute myeloid leukemia |
ORPHA:98827 |
| Fish-Eye Disease |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly |
ORPHA:79292 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Abnormality of neuronal migration, Ventriculomegaly |
ORPHA:2772 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Leukocytosis, B lymphocytopenia, Thrombocytosis, Neutrophilia, Monocytosis, Recurrent sinusitis |
OMIM:619281 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatosplenomegaly, Secundum atrial septal defect, Hypoplasia of the thymus, Cryptorchidism, Inte... |
OMIM:612541 |
| Fetal Gaucher Disease |
|
High palate, Hepatomegaly, Thrombocytopenia, Pancytopenia, Abnormality of the spleen, Splenomegaly |
ORPHA:85212 |
| Joubert Syndrome 30 |
|
Ventriculomegaly, Dandy-Walker malformation, Gray matter heterotopia |
OMIM:617622 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Jaundice, Oligodontia, Cholestasis, Bile duct proliferation, Hepatic fibrosis, Hepatomegaly, Enam... |
OMIM:607626 |
| Joubert Syndrome 33 |
|
Splenomegaly |
OMIM:617767 |
| Edinburgh Malformation Syndrome |
|
Abnormality of neuronal migration, Hydrocephalus |
ORPHA:1895 |
| Neonatal Lupus Erythematosus |
|
Aplastic anemia, Hemolytic anemia, Anemia, Cholestasis, Abnormality of the liver, Hepatomegaly, A... |
ORPHA:398124 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly, Anemia |
OMIM:618838 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Fava bean-induced hemolytic anemia, Anisocytosis, Jaundice, Heinz bodies, Leukocytosis, Reticuloc... |
OMIM:300908 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatosplenomegaly, Open mouth, Retrognathia, Anemia, Hepatomegaly, Everted lower lip vermilion, ... |
OMIM:608013 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal pulmonary valve morphology, Abnormal ventriculoarterial connection, Atrial septal defect... |
ORPHA:860 |
| Dominant Beta-Thalassemia |
|
Hypopituitarism, Chronic hepatitis, Hypoparathyroidism, Hyperplasia of the maxilla, Hepatosplenom... |
ORPHA:231226 |
| Adams-Oliver Syndrome 6 |
|
Ventricular septal defect, Hepatic fibrosis, Portal hypertension, Truncus arteriosus, Splenomegaly |
OMIM:616589 |
| Gaucher Disease Type 1 |
|
Gingival bleeding, Leukopenia, Biliary tract obstruction, Anemia, Hepatomegaly, Cirrhosis, Thromb... |
ORPHA:77259 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Macrovesicular hepatic steatosis, Cardiomegaly, Hepatomegaly, Dilated cardiomyopathy |
OMIM:600649 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Pachygyria, Abnormality of neuronal migration |
OMIM:608840 |
| Attrv30M Amyloidosis |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:85447 |
| Acute Panmyelosis With Myelofibrosis |
|
Bone marrow hypocellularity, Lymphocytosis, Pancytopenia, Acute myelomonocytic leukemia, Splenome... |
ORPHA:86843 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Anterior open-bite malocclusion, Amelogenesis imperfecta, Hypomature enamel, Yellow-brown discolo... |
OMIM:612529 |
| Amelogenesis Imperfecta, Type Iiic |
|
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Amelogenesis imperfecta, Yel... |
OMIM:618386 |
| Aggressive Systemic Mastocytosis |
|
Hepatosplenomegaly, Leukocytosis, Anemia, Leukemia, Abnormal mast cell morphology, Portal hyperte... |
ORPHA:98850 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Anemia, Hepatomegaly, Thrombocytopenia, Splenomegaly |
OMIM:611490 |
| Ornithine Transcarbamylase Deficiency |
|
Splenomegaly |
ORPHA:664 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Amelogenesis imperfecta, Hepatomegaly, Thrombocytopenia, Lymphadenopathy, Hypoc... |
ORPHA:169090 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Decreased proportion of naive CD8 T cells, Chronic lymphatic leukemia, Lymphopenia, Decreased pro... |
OMIM:616005 |
| Amelo-Onycho-Hypohidrotic Syndrome |
|
Tooth agenesis, Abnormal dental enamel morphology, Abnormality of dental morphology, Everted lowe... |
ORPHA:1028 |
| 8P11.2 Deletion Syndrome |
|
High palate, Cryptorchidism, Hemolytic anemia, Atrial septal defect, Hypogonadism, Hypoplasia of ... |
ORPHA:251066 |
| Dehydrated Hereditary Stomatocytosis |
|
Increased hemoglobin concentration, Reticulocytosis, Polycythemia, Hemolytic anemia, Increased me... |
ORPHA:3202 |
| Beta-Thalassemia Major |
|
Hypopituitarism, Hypoparathyroidism, Hepatomegaly, Hyperplasia of the maxilla, Hepatosplenomegaly... |
ORPHA:231214 |
| Sclerosing Cholangitis, Neonatal |
|
Ductal bile plugs, Jaundice, Biliary cirrhosis, Cholestasis, Hepatic bridging fibrosis, Bile duct... |
OMIM:617394 |
| Cold Agglutinin Disease |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly, Hemolytic anemia |
ORPHA:56425 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Amelogenesis imperfecta, Carious teeth, Yellow-brown discoloration of the teeth |
OMIM:615887 |
| Cantu Syndrome |
|
Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Long philtrum, Pericardial effus... |
OMIM:239850 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Polycystic ovaries, Pancreatitis, Hepatomegaly, Advanced eruption of teeth, Hepatic steatosis, Hy... |
ORPHA:2348 |
| Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Spherocytosis |
ORPHA:66518 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Perimembranous ventricular septal defect |
OMIM:619170 |
| Griscelli Syndrome |
|
Jaundice, Leukopenia, Abnormality of neutrophils, Bone marrow hypocellularity, Hepatomegaly, Hepa... |
ORPHA:381 |
| Meacham Syndrome |
|
Situs inversus totalis, Conotruncal defect, Cryptorchidism, Hypoplastic left heart, Ambiguous gen... |
ORPHA:3097 |
| Elliptocytosis 1 |
|
Jaundice, Elliptocytosis, Splenomegaly, Hemolytic anemia |
OMIM:611804 |
| Systemic-Onset Juvenile Idiopathic Arthritis |
|
Lymphadenopathy, Hepatomegaly, Pericarditis, Splenomegaly |
ORPHA:85414 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatosplenomegaly, Cardiomegaly, Hepatomegaly, Iron deficiency anemia |
ORPHA:99931 |
| Carnitine Deficiency, Systemic Primary |
|
Decreased carnitine level in liver, Cardiomyopathy, Hepatomegaly, Microvesicular hepatic steatosi... |
OMIM:212140 |
| Neurocutaneous Melanocytosis |
|
Meningocele, Dandy-Walker malformation, Abnormality of neuronal migration, Ventriculomegaly |
ORPHA:2481 |
| Holoprosencephaly 14 |
|
Partial agenesis of the corpus callosum, Hydrocephalus, Aqueductal stenosis, Holoprosencephaly, A... |
OMIM:619895 |
| Tricuspid Atresia |
|
Cyanosis |
ORPHA:1209 |
| Amelogenesis Imperfecta, Type If |
|
Abnormality of dental color, Dental enamel pits, Amelogenesis imperfecta, Enamel hypoplasia |
OMIM:616270 |
| Adams-Oliver Syndrome 5 |
|
Pulmonic stenosis, Right atrial enlargement, Right ventricular hypertrophy, Hypersplenism, Portal... |
OMIM:616028 |
| Hereditary Methemoglobinemia |
|
Cyanosis |
ORPHA:621 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Polymicrogyria, Hydrocephalus, Pachygyria, Agenesis of corpus callosum, Abnormality of neuronal m... |
ORPHA:157 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Cardiomegaly, Hepatomegaly |
OMIM:619064 |
| Periventricular Nodular Heterotopia 1 |
|
Abnormality of neuronal migration, Gray matter heterotopia |
OMIM:300049 |
| Felty Syndrome |
|
Anemia, Bone marrow hypocellularity, Abnormal lymphocyte morphology, Hepatomegaly, Sinusitis, Thr... |
ORPHA:47612 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Simplified gyral pattern, Acrocyanosis |
OMIM:614407 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Macroglossia, High palate, Cryptorchidism, Retrognathia, Ventricular septal defect, Hepatomegaly,... |
ORPHA:96191 |
| Overhydrated Hereditary Stomatocytosis |
|
Jaundice, Reticulocytosis, Hemolytic anemia, Hepatomegaly, Prolonged neonatal jaundice, Increased... |
OMIM:185000 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Anisocytosis, Bite cells, Reticulocytosis, Hemolytic anemia, Hepatomegaly, Anemia of inadequate p... |
OMIM:224120 |
| Poretti-Boltshauser Syndrome |
|
Dilated fourth ventricle, Gray matter heterotopia |
OMIM:615960 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Micropenis, Unilateral cleft lip, Ventricular septal defect, Micrognathia, Cleft palate, Hypertro... |
OMIM:616897 |
| Cholesteryl Ester Storage Disease |
|
Hepatosplenomegaly, Leukopenia, Bone-marrow foam cells, Anemia, Hepatic bridging fibrosis, Hepati... |
OMIM:278000 |
| Amelogenesis Imperfecta, Type Iv |
|
Taurodontia, Amelogenesis imperfecta, Enamel hypoplasia, Yellow-brown discoloration of the teeth |
OMIM:104510 |
| Glycogen Storage Disease Ixc |
|
Bile duct proliferation, Hepatomegaly, Cirrhosis, Splenomegaly, Increased hepatic glycogen content |
OMIM:613027 |
| 16P13.11 Microdeletion Syndrome |
|
Holoprosencephaly, Agenesis of corpus callosum, Abnormality of neuronal migration, Ventriculomegaly |
ORPHA:261236 |
| Amelogenesis Imperfecta, Type Ie |
|
Amelogenesis imperfecta, Enamel hypoplasia, Abnormal dentin morphology, Anterior open-bite malocc... |
OMIM:301200 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Jaundice, Intrahepatic cholestasis with episodic jaundice, Hepatomegaly, Cirrhosis, Cholelithiasi... |
OMIM:211600 |
| Timothy Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Microdontia, Patent foramen ovale, Cardiomegaly, ... |
OMIM:601005 |
| Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Splenomegaly |
OMIM:306000 |
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatocellular carcinoma, Intermittent jaundice, Intrahepatic cholestasis, Hepatomegaly, Cirrhosi... |
OMIM:601847 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Hypoplasia of the thymus, Interface hepatitis, Impaired lymphocyte transformation with phytohemag... |
OMIM:243150 |
| Distal Duplication 5Q |
|
Aplasia/Hypoplasia of the gallbladder, Dextrocardia, Cryptorchidism, Ventricular septal defect, N... |
ORPHA:96097 |
| Hereditary Spherocytosis |
|
Jaundice, Reticulocytosis, Increased mean corpuscular hemoglobin concentration, Extramedullary he... |
ORPHA:822 |
| Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils, Carious teeth |
ORPHA:2760 |
| Wolman Disease |
|
Bone-marrow foam cells, Anemia, Hepatomegaly, Splenomegaly, Ascites |
ORPHA:75233 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Situs inversus totalis, Biliary cirrhosis, Asplenia, Atrial septal defect, Enlarged kidney, Chole... |
OMIM:208540 |
| Omenn Syndrome |
|
Leukocytosis, Anemia, Abnormal lymphocyte morphology, Hepatomegaly, Eosinophilia, Lymphadenopathy... |
ORPHA:39041 |
| Sialuria |
|
Macroglossia, High palate, Hypoplastic nipples, Hepatomegaly, Long philtrum, Smooth philtrum, Thi... |
OMIM:269921 |
| Autoimmune Hemolytic Anemia |
|
Abnormal leukocyte morphology, Splenomegaly, Hemolytic anemia |
ORPHA:98375 |
| Thanatophoric Dysplasia |
|
Ventriculomegaly, Gray matter heterotopia, Hydrocephalus |
ORPHA:2655 |
| Buerger Disease |
|
Acrocyanosis |
ORPHA:36258 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Ascites, Hypertrophic cardiomyopathy |
OMIM:614702 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly, Thick vermilion border |
ORPHA:3137 |
| Hereditary Elliptocytosis |
|
Jaundice, Elliptocytosis, Reticulocytosis, Hemolytic anemia, Abnormal erythrocyte morphology, Cho... |
ORPHA:288 |
| T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Splenomegaly, Hemophagocytosis, Anemia |
OMIM:618398 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatosplenomegaly, Anisocytosis, Leukocytosis, Reticulocytosis, Hemolytic anemia, Elliptocytosis... |
OMIM:618278 |
| Fucosidosis |
|
Vacuolated lymphocytes, Macroglossia, Hepatomegaly, Absent/hypoplastic paranasal sinuses, Cardiom... |
OMIM:230000 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Hypoplastic left heart, Asplenia, Atrial septal defect, Ventricular septal defect, Atrioventricul... |
OMIM:306955 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Hepatomegaly, Ventricular hypertrophy, Right atrial enlargement, Muscular ventricular septal defe... |
OMIM:115197 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Polymicrogyria, Hydrocephalus, Ventriculomegaly, Pachygyria, Agenesis of corpus callosum, Abnorma... |
ORPHA:228308 |
| Gaucher Disease, Type I |
|
Anemia, Hepatomegaly, Thrombocytopenia, Aortic valve stenosis, Hypersplenism, Pancytopenia, Splen... |
OMIM:230800 |
| Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Ventriculomegaly, Periventricular heterotopia |
OMIM:618974 |
| Laryngeal Abductor Paralysis |
|
Cyanosis |
OMIM:150260 |
| Fixed Subaortic Stenosis |
|
Pulmonic stenosis, Bacterial endocarditis, Ventricular septal defect, Atrioventricular canal defe... |
ORPHA:3092 |
| Myelofibrosis |
|
Myeloproliferative disorder, Splenomegaly |
OMIM:254450 |
| Congenital Tricuspid Valve Dysplasia |
|
Abnormal tricuspid valve leaflet morphology, Tricuspid valve prolapse, Hepatomegaly, Right atrial... |
ORPHA:555874 |
| Pseudo-Torch Syndrome 1 |
|
Jaundice, High palate, Cleft lip, Hepatomegaly, Microretrognathia, Thrombocytopenia, Long philtru... |
OMIM:251290 |
| Intellectual Developmental Disorder, X-Linked 12 |
|
Abnormality of neuronal migration, Ventriculomegaly |
OMIM:300957 |
| Obesity-Hypoventilation Syndrome |
|
Cyanosis |
OMIM:257500 |
| Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hepatocellular carcinoma, Hepatocellular adenoma, Cholestasis, Polycystic ovaries, Cardiomyopathy... |
ORPHA:370 |
| Kagami-Ogata Syndrome |
|
Retrognathia, Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Hepatomegaly, L... |
OMIM:608149 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Stomatitis, Hemolytic anemia, Chronic hepatitis, Hepatomegaly, Cirrhosis, Hepatitis, Thrombocytop... |
OMIM:308230 |
| Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis |
ORPHA:2400 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Cyanosis |
OMIM:263000 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Lateral ventricle dilatation, Periventricular heterotopia |
OMIM:614105 |
| Macrophage Activation Syndrome |
|
Hemophagocytosis, Anemia, Hepatomegaly, Hepatitis, Abnormal natural killer cell count, Thrombocyt... |
ORPHA:158061 |
| Immunodeficiency 60 And Autoimmunity |
|
Decreased proportion of memory B cells, Pancytopenia, Decreased basophil count, Splenomegaly |
OMIM:618394 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Myeloproliferative disorder, Leukocytosis, Myeloid leukemia, Normocytic anemia, Chronic myelomono... |
ORPHA:98849 |
| Primary Lipodystrophy |
|
Polycystic ovaries, Cardiomyopathy, Pancreatitis, Cirrhosis, Hepatic steatosis, Splenomegaly |
ORPHA:90970 |
| Hermansky-Pudlak Syndrome 2 |
|
Hepatosplenomegaly, Decreased CD4:CD8 ratio, Hepatomegaly, Reduced natural killer cell count, Thr... |
OMIM:608233 |
| Periventricular Nodular Heterotopia 7 |
|
Polymicrogyria, Periventricular nodular heterotopia, Gray matter heterotopia |
OMIM:617201 |
| Gm1-Gangliosidosis, Type I |
|
Vacuolated lymphocytes, Abnormal heart valve morphology, Hepatomegaly, Gingival overgrowth, Dilat... |
OMIM:230500 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Hydrocephalus, Dandy-Walker malformation, Ventriculomegaly, Agenesis of corpus callosum, Perivent... |
OMIM:618476 |
| Scheie Syndrome |
|
Hepatomegaly, Splenomegaly, Everted lower lip vermilion, Thick vermilion border, Wide mouth |
ORPHA:93474 |
| Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Micrognathia, Thymus hyperplasia |
OMIM:619036 |
| Sandhoff Disease |
|
Hepatosplenomegaly, Cardiomegaly, Macroglossia, Hepatomegaly |
OMIM:268800 |
| Chediak-Higashi Syndrome |
|
Giant neutrophil granules, Jaundice, Leukopenia, Hemophagocytosis, Anemia, Gingivitis, Hepatomega... |
OMIM:214500 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Ventriculomegaly, Gray matter heterotopia, Hydrocephalus |
OMIM:219730 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Periventricular heterotopia, Colpocephaly, Ventriculomegaly, Hydrocephalus |
OMIM:619833 |
| Bile Acid Synthesis Defect, Congenital, 2 |
|
Jaundice, Hepatomegaly, Splenomegaly, Intrahepatic cholestasis |
OMIM:235555 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Ductal bile plugs, Jaundice, Intrahepatic cholestasis, Hepatic bridging fibrosis, Bile duct proli... |
OMIM:613812 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Decreased testicular size, Hypogonadism, Hepatomegaly, Hypogeusia, Splenomegaly |
OMIM:201100 |
| Sézary Syndrome |
|
Lymphadenopathy, Hepatomegaly, Abnormal lymphocyte morphology, Splenomegaly |
ORPHA:3162 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Ventricular hypertrophy |
OMIM:619051 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Hepatomegaly, Lymphopenia, Lymphadenopa... |
OMIM:616100 |
| Hypomelanosis Of Ito |
|
Gray matter heterotopia |
OMIM:300337 |
| American Trypanosomiasis |
|
Myocarditis, Cardiomyopathy, Hepatomegaly, Lymphadenopathy, Splenomegaly |
ORPHA:3386 |
| Vici Syndrome |
|
Agenesis of corpus callosum, Gray matter heterotopia |
ORPHA:1493 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Cyanosis |
ORPHA:98913 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Anemia, Hepatomegaly, Calvarial osteosclerosis, Thrombocytopenia, Pancytopenia, Carious teeth, Sp... |
OMIM:259700 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Abnormal cortical gyration, Polymicrogyria, Macrogyria, Exencephaly, Pachygyria, L... |
ORPHA:2211 |
| Poikiloderma With Neutropenia |
|
Retrognathia, Leukopenia, Long philtrum, Recurrent sinusitis, Carious teeth, Micrognathia, Spleno... |
OMIM:604173 |
| Congenital Disorder Of Glycosylation, Type It |
|
Chronic hepatitis, Ventricular septal defect, Intrahepatic cholestasis, Bifid uvula, Hepatomegaly... |
OMIM:614921 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Open mouth, Left ventricular noncompaction cardiomyopathy, Cryptorchidism, Atrial septal defect, ... |
OMIM:300967 |
| Laryngotracheal Angioma |
|
Cyanosis |
ORPHA:137935 |
| Chronic Granulomatous Disease |
|
Liver abscess, Abnormality of neutrophils, Hepatomegaly, Sinusitis, Gingivitis, Mediastinal lymph... |
ORPHA:379 |
| Benign Familial Neonatal Epilepsy |
|
Circumoral cyanosis |
ORPHA:1949 |
| Mucopolysaccharidosis Type 6 |
|
Macroglossia, Abnormal heart valve morphology, Sinusitis, Splenomegaly, Thick lower lip vermilion |
ORPHA:583 |
| Tetrasomy 18P |
|
Abnormality of neuronal migration |
ORPHA:3307 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Splenomegaly |
ORPHA:90037 |
| Familial Tumoral Calcinosis |
|
Abnormality of the dentition, Abnormal palate morphology, Hepatomegaly, Gingivitis, Abnormality o... |
ORPHA:53715 |
| Familial Mediterranean Fever |
|
Peritonitis, Leukocytosis, Orchitis, Hepatomegaly, Aphthous ulcer, Neutrophilia, Pericarditis, Sp... |
OMIM:249100 |
| Immunodeficiency 92 |
|
Cholangitis, Decreased proportion of class-switched memory B cells, Leukocytosis, Hepatomegaly, B... |
OMIM:619652 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Cirrhosis, Giant cell hepatitis, Splenomegaly, ... |
OMIM:607765 |
| Hypoadrenocorticism, Familial |
|
Cyanosis |
OMIM:240200 |
| Essential Thrombocythemia |
|
Abnormal platelet morphology, Splenomegaly, Acute leukemia |
ORPHA:3318 |
| Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Agenesis of corpus callosum, Interhypothalamic adhesion, Periventricular heterotopia |
OMIM:618929 |
| Beck-Fahrner Syndrome |
|
Open mouth, High palate, Ventricular septal defect, Long philtrum, Cardiomegaly |
OMIM:618798 |
| Joubert Syndrome |
|
Encephalocele, Polymicrogyria, Abnormality of neuronal migration, Hydrocephalus |
ORPHA:475 |
| Cerebral Palsy, Spastic Quadriplegic, 3 |
|
Gray matter heterotopia |
OMIM:617008 |
| Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly |
OMIM:619183 |
| Oculoskeletodental Syndrome |
|
Macroglossia, Oligodontia, Cryptorchidism, Hepatomegaly, Splenomegaly |
OMIM:618440 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Type II lissencephaly, Hydrocephalus, Communicating hydrocephalus, Occipital encephalocele, Dandy... |
OMIM:615287 |
| Kaposiform Lymphangiomatosis |
|
Hepatosplenomegaly, Enlarged kidney, Abnormal spleen morphology, Anemia, Abnormal lymphatic vesse... |
ORPHA:464329 |
| Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Gray matter heterotopia |
OMIM:619694 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Periportal fibrosis, Hepatic steatosis, Hypertrophic cardiomyopathy, Hepatocellular... |
OMIM:201475 |
| Hsd10 Disease, Infantile Type |
|
Cyanosis |
ORPHA:391428 |
| Eosinophilic Fasciitis |
|
Abnormal eosinophil morphology, Acrocyanosis, Eosinophilia |
ORPHA:3165 |
| Tetrasomy 5P |
|
Cyanosis, Hydrocephalus |
ORPHA:3309 |
| Shwachman-Diamond Syndrome |
|
Hypopituitarism, Hepatomegaly, Macrocytic anemia, Abnormal heart morphology, Carious teeth, Acute... |
ORPHA:811 |
| Cleft Larynx, Posterior |
|
Cyanosis |
OMIM:215800 |
| Caroli Disease |
|
Cholangitis, Jaundice, Leukocytosis, Liver abscess, Intrahepatic cholestasis, Cholestasis, Hepati... |
ORPHA:53035 |
| Acquired Methemoglobinemia |
|
Cyanosis, Hypoxemia |
ORPHA:464453 |
| Infant Acute Respiratory Distress Syndrome |
|
Cyanosis, Hypoxemia |
ORPHA:70587 |
| Thanatophoric Dysplasia Type 1 |
|
Ventriculomegaly, Gray matter heterotopia, Excessive wrinkled skin, Hydrocephalus |
ORPHA:1860 |
| Coronary Arterial Fistula |
|
Bacterial endocarditis, Atrial septal defect, Abnormal heart morphology, Bicuspid aortic valve, A... |
ORPHA:2041 |
| Congenital Fibrinogen Deficiency |
|
Cyanosis, Subcutaneous hemorrhage, Bruising susceptibility |
ORPHA:335 |
| Neu-Laxova Syndrome |
|
Abnormal cortical gyration, Polymicrogyria, Macrogyria, Spina bifida, Ventriculomegaly, Pachygyri... |
ORPHA:2671 |
| X-Linked Lymphoproliferative Disease |
|
Myocarditis, Hemophagocytosis, Fulminant hepatitis, Histiocytosis, B lymphocytopenia, Hepatic nec... |
ORPHA:2442 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Cardiomegaly, Hepatomegaly, Hepatic steatosis |
ORPHA:42 |
| Craniofaciofrontodigital Syndrome |
|
