| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoglycemic seizures, Neonatal hypoglycemia, Large for gestational age, Hypoketotic hypoglycemia... |
ORPHA:293964 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Large for gestational age, Neonatal hypoglycemia, Fasting hypoglycemia, Hypoinsulinemia, Obesity,... |
OMIM:240900 |
| Immune Thrombocytopenia |
|
Thrombocytopenia |
OMIM:188030 |
| Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
| Glycogen Storage Disease Vi |
|
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Incr... |
OMIM:232700 |
| Transient Neonatal Diabetes Mellitus |
|
Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Hypothyroidism, Failure... |
ORPHA:99886 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Large for gestational age, Nesidioblastosis, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancrea... |
OMIM:601820 |
| Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Large fo... |
OMIM:256450 |
| Diamond-Blackfan Anemia 18 |
|
Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia |
OMIM:618310 |
| Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
| RCAD (renal cysts and diabetes) |
|
Abnormality of the liver, Diabetes mellitus |
DECIPHER:47 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic ... |
OMIM:610021 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glo... |
OMIM:165550 |
| Fanconi Anemia, Complementation Group G |
|
Microphthalmia, Anemia, Thrombocytopenia, Leukemia, Neutropenia |
OMIM:614082 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Lipoatrophy, Hyperinsulinemia, Loss of gluteal subcutaneous adipose tissue,... |
ORPHA:280356 |
| Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia |
OMIM:242870 |
| Short Stature Due To Ghsr Deficiency |
|
Delayed puberty, Abnormality of body weight, Decreased body weight, Decreased serum insulin-like ... |
ORPHA:314811 |
| Mody |
|
Large for gestational age, Hepatocellular adenoma, Neonatal hypoglycemia, Hypoinsulinemia, Pancre... |
ORPHA:552 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hepatomegaly, Decreased serum leptin, Increased intraabdominal fat, Lipodys... |
ORPHA:79085 |
| Isolated Growth Hormone Deficiency, Type Ia |
|
Reduced circulating growth hormone concentration, Prolonged neonatal jaundice, Hypoglycemia, Decr... |
OMIM:262400 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy... |
ORPHA:71526 |
| Amegakaryocytic Thrombocytopenia, Congenital, 1 |
|
Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia |
OMIM:604498 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
| Neutropenia, Severe Congenital, 10, Autosomal Recessive |
|
Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia |
OMIM:620534 |
| Eosinophilia, Familial |
|
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis |
OMIM:131400 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Hypoglycemic seizures, Neonatal hypoglycemia, Hepatomegaly, Hyperinsulinemia, Maturity-onset diab... |
ORPHA:324575 |
| Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Hypoglycemic seizures, Failure to thrive, Hyperinsulinemic hypoglycemia, Abnormality of the pancr... |
OMIM:606762 |
| Immunodeficiency, Common Variable, 5 |
|
Abnormal T cell count, Abnormal B cell count |
OMIM:613495 |
| Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Hypertriglyceridemia, Hepatomegaly, Decreased serum leptin, Lipodystrophy, Decreased adiponectin ... |
OMIM:615238 |
| Bone Marrow Failure Syndrome 2 |
|
Bone marrow hypocellularity, Thrombocytopenia, Anemia, Leukopenia |
OMIM:615715 |
| 3-Methylglutaconic Aciduria Type 1 |
|
Failure to thrive, Hypoglycemia, Hepatomegaly |
ORPHA:67046 |
| Thrombocytopenia 7 |
|
Impaired ADP-induced platelet aggregation, Reduced platelet alpha granules, Impaired collagen-ind... |
OMIM:619130 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Lipoatrophy, Hepatomegaly, Pancreatitis, Hyperinsulinemia, Insulin resistance, Diabetes mellitus,... |
ORPHA:79084 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal platelet function, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin |
ORPHA:231393 |
| Microphthalmia/Coloboma 12 |
|
Microphthalmia, Remnants of the hyaloid vascular system, Optic nerve aplasia, Chorioretinal colob... |
OMIM:120200 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
B lymphocytopenia, T lymphocytopenia |
OMIM:233650 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Increased adipos... |
ORPHA:435660 |
| Immunodeficiency 50 |
|
Neutropenia, Lymphopenia |
OMIM:300988 |
| Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
| Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia, Childhood-onset truncal obesity, Hyperinsulinemia, Increased adipose tissue... |
ORPHA:71529 |
| Myelolymphatic Insufficiency |
|
Leukopenia, Hyposegmentation of neutrophil nuclei |
OMIM:310350 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Loss of gluteal subcutaneous adipose tissue, Lo... |
ORPHA:435651 |
| Cernunnos-Xlf Deficiency |
|
Anemia, B lymphocytopenia, T lymphocytopenia, Thrombocytopenia, Lymphopenia |
ORPHA:169079 |
| Immunodeficiency 19 |
|
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology |
OMIM:615617 |
| Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Elevated circulat... |
OMIM:609968 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary hematopoiesis, Neutropenia |
OMIM:615285 |
| Immunodeficiency 24 |
|
Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell... |
OMIM:615897 |
| Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
| Immunodeficiency 52 |
|
Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B cell count, Lymph... |
OMIM:617514 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Decreased helper T cell proportion, T lymphocytopenia |
OMIM:601705 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia |
OMIM:166990 |
| Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Hepatomegaly |
OMIM:609016 |
| Cyclic Neutropenia |
|
Cyclic neutropenia |
OMIM:162800 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neonatal death, Neutropenia |
OMIM:257100 |
| T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Abnormally low T cell receptor excision circle level, T lymphocytopenia |
OMIM:618806 |
| Short Stature Due To Partial Ghr Deficiency |
|
Delayed puberty, Hypoglycemia, Decreased serum insulin-like growth factor 1 |
ORPHA:314802 |
| Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... |
ORPHA:171706 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Bone marrow hypo... |
OMIM:619041 |
| Proprotein Convertase 1/3 Deficiency |
|
Hypoinsulinemia, Elevated circulating proinsulin concentration, Obesity, Decreased circulating co... |
OMIM:600955 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Hypertriglyceridemia, Cirrhosis, Hyperinsulinemia, Maternal diabetes, Loss of gluteal subcutaneou... |
OMIM:604367 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia |
OMIM:183350 |
| Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia |
OMIM:619523 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemia, Hepatomegaly, Diffuse pancrea... |
ORPHA:276580 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Monocytosis, Neutropenia |
OMIM:613107 |
| Acute Myelomonocytic Leukemia |
|
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis |
ORPHA:517 |
| Preeclampsia/Eclampsia 1 |
|
Thrombocytopenia |
OMIM:189800 |
| Insulin Autoimmune Syndrome |
|
Hyperinsulinemic hypoglycemia, Fasting hypoglycemia, Nonketotic hypoglycemia, Weight loss, Insuli... |
ORPHA:411593 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Impaired gluconeogenesis, Hypoglycemia, Hepatic steatosis, Hepatic failure |
OMIM:261650 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Hypertriglyceridemia, Hyperinsulinemia, Hyperlipidemia, Obesity, Increased serum leptin, Insulin ... |
OMIM:617885 |
| Erythroleukemia, Familial, Susceptibility To |
|
Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplasia, Leukemia |
OMIM:133180 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin |
ORPHA:3319 |
| Obesity And Hypopigmentation |
|
Obesity, Hyperinsulinemia, Hepatic steatosis |
OMIM:620195 |
| Whim Syndrome 2 |
|
Chronic neutropenia |
OMIM:619407 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
| Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr... |
OMIM:619924 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Platelet anisocytosis, Giant platelets, Anemia, Impaired platelet aggregation, Thrombocytopenia, ... |
OMIM:187800 |
| Insulinomatosis And Diabetes Mellitus |
|
Impaired glucose tolerance, Insulinoma, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia,... |
OMIM:147630 |
| Refractory Anemia |
|
Normocytic anemia, Erythroid hypoplasia, Normochromic anemia, Macrocytic anemia, Anemia of inadeq... |
ORPHA:98826 |
| Thrombocytopenia 9 |
|
Thrombocytopenia, Abnormal platelet aggregation |
OMIM:620478 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Increased mean platelet volume, Thrombocytopenia, Iron deficiency anemia, Neutropenia |
ORPHA:494444 |
| Congenital Glucokinase-Related Hyperinsulinism |
|
Hypoketotic hypoglycemia, Type II diabetes mellitus, Recurrent hypoglycemia, Hyperinsulinemic hyp... |
ORPHA:79299 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hypoglycemia, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated... |
OMIM:615158 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... |
OMIM:202700 |
| Immunodeficiency 112 |
|
Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell... |
OMIM:620449 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypoglycemic seizures, Large for gestational age, Hepatomegaly, Hyperinsulinemia, Diffuse pancrea... |
ORPHA:276575 |
| Wiskott-Aldrich Syndrome 2 |
|
Thrombocytopenia, Decreased proportion of CD8-positive T cells |
OMIM:614493 |
| Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
| Immunodeficiency 15A |
|
Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... |
OMIM:618204 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia |
ORPHA:231401 |
| Hyperinsulinism Due To Insr Deficiency |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Insulin resistance, Fasting ... |
ORPHA:263458 |
| Immunodeficiency 76 |
|
B lymphocytopenia, Lymphopenia, Splenomegaly, T lymphocytopenia |
OMIM:619164 |
| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Delayed puberty, Cirrhosis, Hepatomegaly, Portal fibrosis, Elevated circulating hepatic transamin... |
ORPHA:369 |
| Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD8-positive T cells, Abnormal natural killer cell count, Abnormal T cell... |
OMIM:312863 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Macrothrombocytopenia, Thrombocytopenia, Anemia |
OMIM:616176 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Macrothrombocytopenia, Impaired platelet aggregation, Thrombocytopenia |
OMIM:124900 |
| Transcobalamin Deficiency |
|
Neutropenia, Lymphopenia, Thrombocytopenia, Pancytopenia |
ORPHA:859 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemia of inadequat... |
ORPHA:75564 |
| Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Neutropenia |
OMIM:616022 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Hypoketotic hypoglycemia, Fasting hypoglycemia, Increased body weight, Hyperins... |
ORPHA:276608 |
| Immunodeficiency 84 |
|
B lymphocytopenia, Splenomegaly, Perianal abscess |
OMIM:619437 |
| Roch-Leri Mesosomatous Lipomatosis |
|
Thrombocytopenia |
ORPHA:529 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
T lymphocytopenia, Increased proportion of transitional B cells, Splenomegaly, Decreased proporti... |
OMIM:615513 |
| Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
| Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Neutropenia |
ORPHA:90023 |
| Chronic Myeloid Leukemia |
|
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... |
ORPHA:521 |
| Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
| Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Neutropenia |
ORPHA:70592 |
| Neutropenia, Chronic Familial |
|
Neutropenia |
OMIM:162700 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia |
OMIM:252270 |
| Platelet Glycoprotein Iv Deficiency |
|
Thrombocytopenia, Giant platelets |
OMIM:608404 |
| Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
| Immunodeficiency 13 |
|
B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lympho... |
OMIM:615518 |
| Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Abnormal lymphocyte count, Abnormal B cell count, L... |
OMIM:615615 |
| Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia |
ORPHA:1980 |
| Trimethylaminuria |
|
Anemia, Splenomegaly, Neutropenia |
OMIM:602079 |
| Ataxia-Pancytopenia Syndrome |
|
Anemia, Pancytopenia, Thrombocytopenia, Acute myelomonocytic leukemia, Hypoplastic anemia, Neutro... |
OMIM:159550 |
| Thrombocytopenia 4 |
|
Thrombocytopenia, Abnormal platelet volume |
OMIM:612004 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hepatomegaly, Hypergonadotropic h... |
OMIM:617872 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Thrombocytopenia, Chronic neutropenia, Anemia |
OMIM:619302 |
| Von Willebrand Disease, Platelet-Type |
|
Intermittent thrombocytopenia |
OMIM:177820 |
| Immunodeficiency 104 |
|
Splenomegaly, T lymphocytopenia |
OMIM:608971 |
| Platelet Signal Processing Defect |
|
Impaired collagen-induced platelet aggregation, Thrombocytopenia, Impaired epinephrine-induced pl... |
OMIM:173590 |
| Folate Malabsorption, Hereditary |
|
Folate-responsive megaloblastic anemia, Thrombocytopenia, Leukopenia, Neutropenia |
OMIM:229050 |
| Diarrhea 13 |
|
Hepatic steatosis, Failure to thrive, Elevated circulating hepatic transaminase concentration, Re... |
OMIM:620357 |
| Thrombocytopenia 5 |
|
Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut... |
OMIM:616216 |
| Amegakaryocytic Thrombocytopenia, Congenital, 2 |
|
Aplastic anemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia |
OMIM:620481 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Platelet anisocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced pl... |
OMIM:619271 |
| Sea-Blue Histiocyte Disease |
|
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly |
OMIM:269600 |
| Immunodeficiency 21 |
|
Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu... |
OMIM:614172 |
| Homozygous 11P15-P14 Deletion Syndrome |
|
Failure to thrive, Hypoglycemia, Hyperinsulinemia |
OMIM:606528 |
| Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of t... |
ORPHA:66628 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypoglycemic seizures, Large for gestational age, Hepatomegaly, Diffuse pancreatic islet hyperpla... |
ORPHA:276556 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Neutrophil inclusion bodies, Giant platelets, Impaired epinephrine-induced platelet aggregation, ... |
OMIM:155100 |
| Galactokinase Deficiency |
|
Hepatomegaly, Hyperinsulinemia, Hypergonadotropic hypogonadism, Failure to thrive, Hepatosplenome... |
ORPHA:79237 |
| Microphthalmia/Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Incre... |
OMIM:615193 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Abnormal T cell morphology, Reduced natural killer cell count, Neutropenia |
OMIM:615214 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope... |
ORPHA:231154 |
| Solitary Fibrous Tumor |
|
Abnormal peritoneum morphology, Hypoinsulinemia, Hypoglycemia, Recurrent hypoglycemia, Weight los... |
ORPHA:2126 |
| Microphthalmia, Syndromic 3 |
|
Microphthalmia, Esophageal atresia, Anophthalmia, Optic nerve hypoplasia, Optic nerve aplasia, Ve... |
OMIM:206900 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Neutropenia, Absent circulating B cells |
OMIM:613501 |
| Immunodeficiency 62 |
|
B lymphocytopenia, Autoimmune thrombocytopenia, Increased proportion of transitional B cells, Dec... |
OMIM:618459 |
| Gray Platelet Syndrome |
|
Abnormality of thrombocytes, Thrombocytopenia, Splenomegaly |
ORPHA:721 |
| Microphthalmia/Coloboma 5 |
|
Bilateral microphthalmos, Microphthalmia, Anophthalmia |
OMIM:611638 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypertriglyceridemia, Hepatomegaly, Generalized lipodystrophy, Reduced subcutaneous adipose tissu... |
OMIM:612526 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of t... |
ORPHA:179494 |
| Bleeding Disorder, Platelet-Type, 22 |
|
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Thromb... |
OMIM:618462 |
| Atypical Hemolytic Uremic Syndrome |
|
Thrombocytopenia, Microangiopathic hemolytic anemia |
ORPHA:2134 |
| Fetal Parvovirus Syndrome |
|
Thrombocytopenia, Anemia |
ORPHA:295 |
| Reticular Dysgenesis |
|
Congenital agranulocytosis, Leukopenia, Hypoplasia of the thymus, Lymphopenia |
OMIM:267500 |
| Systemic Lupus Erythematosus 17 |
|
Thrombocytopenia, Autoimmune thrombocytopenia, Leukopenia, Lymphopenia |
OMIM:301080 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Anemia, Hemophagocytosis, Thrombocytopenia, Splenomegaly, Neutropenia |
OMIM:603552 |
| Giant platelet syndrome with thrombocytopenia |
|
Thrombocytopenia, Giant platelets |
OMIM:137560 |
| Agammaglobulinemia 8A, Autosomal Dominant |
|
B lymphocytopenia |
OMIM:616941 |
| Neonatal Hemochromatosis |
|
Prolonged neonatal jaundice, Hypoglycemia, Congenital hepatic fibrosis |
ORPHA:446 |
| Insulin-Resistance Syndrome Type B |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Increased serum testosterone level, Fasting hypo... |
ORPHA:2298 |
| Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:604765 |
| Bone Marrow Failure Syndrome 4 |
|
Bone marrow hypocellularity, Thrombocytopenia, Anemia, Leukopenia |
OMIM:618116 |
| Immunodeficiency 46 |
|
Anemia, Intermittent thrombocytopenia, Neutropenia |
OMIM:616740 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
B lymphocytopenia, Abscess, Intermittent thrombocytopenia, Splenomegaly, Abnormal CD4:CD8 ratio, ... |
OMIM:150550 |
| Forsythe-Wakeling Syndrome |
|
Thrombocytopenia |
OMIM:613606 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocytopenia, Monocyt... |
OMIM:614470 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Abnormally low T cell receptor excision circle level, B lymphocytopenia |
OMIM:618987 |
| Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Large for gestational age, Neonatal hypoglycemia, Diffuse pancreatic islet hyperplasia, Abnormal ... |
ORPHA:79644 |
| Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells, Abnormal proport... |
OMIM:212050 |
| Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Anemia, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly |
OMIM:607616 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hypertriglyceridemia, Cirrhosis, Hyperinsulinemia, Hepatomegaly, Generalized lipodystrophy, Reduc... |
ORPHA:363400 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Anemia, Thrombocytopenia, Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia |
OMIM:616738 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... |
ORPHA:453533 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemic seizures, Hyperinsul... |
OMIM:620211 |
| Bleeding Disorder, Platelet-Type, 20 |
|
Thrombocytopenia |
OMIM:616913 |
| Von Willebrand Disease, Type 2 |
|
Thrombocytopenia |
OMIM:613554 |
| Malaria |
|
Thrombocytopenia, Anemia |
ORPHA:673 |
| Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly, Colitis |
ORPHA:88643 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia, Hypoglycemia |
ORPHA:366 |
| Aicardi-Goutieres Syndrome 3 |
|
Thrombocytopenia, Hepatosplenomegaly |
OMIM:610329 |
| Polycythemia Vera |
|
Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro... |
OMIM:263300 |
| Microphthalmia, Syndromic 12 |
|
Microphthalmia, Neonatal death, Anophthalmia |
OMIM:615524 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Hypertriglyceridemia, Hepatomegaly, Hyperinsulinemia, Loss of truncal subcutaneous adipose tissue... |
OMIM:151660 |
| Immunodeficiency 102 |
|
Anemia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Decreased propor... |
OMIM:301082 |
| Congenital Generalized Lipodystrophy |
|
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Hyperinsulinemia, Precocious puberty in females, F... |
ORPHA:528 |
| Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Neutropenia |
OMIM:610798 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypertriglyceridemia, Glucose intolerance, Type II diabetes mellitus, Impaired glucose tolerance |
OMIM:610947 |
| Fanconi Anemia, Complementation Group T |
|
Anemia, Acute myeloid leukemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:616435 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni... |
OMIM:314050 |
| Acute Erythroid Leukemia |
|
Anemia, Erythroid hypoplasia, Pancytopenia, Bone marrow hypocellularity, Leukopenia |
ORPHA:318 |
| Hypoglycemia, Leucine-Induced |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:240800 |
| Hermansky-Pudlak Syndrome 9 |
|
Thrombocytopenia, Leukopenia, Abnormal platelet aggregation |
OMIM:614171 |
| Slc35A1-Cdg |
|
Thrombocytopenia, Giant platelets, Abnormal platelet granules, Neutropenia |
ORPHA:238459 |
| Thrombocytopenia 2 |
|
Abnormal platelet shape, Thrombocytopenia, Leukocytosis, Abnormal platelet volume |
OMIM:188000 |
| Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Megaloblastic anemia, Thrombocytopenia, Neutropenia |
OMIM:598500 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Unilateral microphthalmos, Thrombocytopenia, Anemia, Splenomegaly |
OMIM:615085 |
| Immunodeficiency, Common Variable, 13 |
|
B lymphocytopenia, Acute lymphoblastic leukemia, Pancytopenia |
OMIM:616873 |
| Fanconi Anemia, Complementation Group V |
|
Bone marrow hypocellularity, Thrombocytopenia, Anemia, Neutropenia |
OMIM:617243 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Thrombocytopenia, Hemolytic anemia, Lymphopenia |
OMIM:616744 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Impaired platelet aggregation, Poikilocytosis, Bone marrow hypocellularity, El... |
OMIM:300835 |
| Glycogen Storage Disease Ixc |
|
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentr... |
OMIM:613027 |
| Glycogen Storage Disease Ixa1 |
|
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Sple... |
OMIM:306000 |
| Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Neutropenia |
OMIM:266130 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Monocytosis, B lymphocytopenia, Leukocytosis, Neutrophilia, Thrombocytosis |
OMIM:619281 |
| Hemochromatosis, Type 4 |
|
Cirrhosis, Hepatomegaly, Impaired glucose tolerance, Diabetes mellitus, Glucose intolerance, Hepa... |
OMIM:606069 |
| Hyperproinsulinemia |
|
Hyperinsulinemia, Hyperglycemia |
OMIM:616214 |
| Bleeding Disorder, Platelet-Type, 25 |
|
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Increa... |
OMIM:620486 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Bone marrow hypocellularity, Refractory anemia, Thrombocytopenia, Leukopenia |
OMIM:231095 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Failure to thrive, Ele... |
OMIM:619048 |
| Moyamoya Disease With Early-Onset Achalasia |
|
Thrombocytopenia, Abnormal platelet aggregation |
ORPHA:401945 |
| Amed Syndrome, Digenic |
|
Anemia, Acute myeloid leukemia, Bone marrow hypocellularity, Thrombocytopenia, Leukopenia |
OMIM:619151 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Decreased proportion of CD8-positive T cells, Decreased proportion of CD3-positive T cells, Lymph... |
ORPHA:169154 |
| Stuve-Wiedemann Syndrome 2 |
|
Stillbirth, Neonatal death, Thrombocytopenia |
OMIM:619751 |
| Insulinoma |
|
Hyperinsulinemia, Neuroendocrine neoplasm, Neoplasm of the adrenal gland, Increased body weight, ... |
ORPHA:97279 |
| Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
Lymphopenia, T lymphocytopenia |
OMIM:618309 |
| Acth Deficiency, Isolated |
|
Jaundice, Fasting hypoglycemia, Adrenal hypoplasia, Cholestasis, Adrenocorticotropic hormone defi... |
OMIM:201400 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Pancytopenia, B lymphocytopenia, T lymphocytopenia, Leukopenia, Hepatosplenomegaly, Lymphopenia, ... |
OMIM:618986 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 9 |
|
Leukopenia, Leukemia |
OMIM:620400 |
| Glycogen Storage Disease Iii |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Hypoglycem... |
OMIM:232400 |
| Immunodeficiency, Common Variable, 3 |
|
Abnormal T cell count, Abnormal B cell count, Decreased proportion of class-switched memory B cells |
OMIM:613493 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Aplastic anemia, Hemophagocytosis, Pancytopenia, Lymphocytosis, Abnormal T cell count, Thrombocyt... |
OMIM:308240 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
B lymphocytopenia, T lymphocytopenia |
OMIM:601457 |
| Mpi-Cdg |
|
Decreased liver function, Hepatomegaly, Portal hypertension, Hypothyroidism, Failure to thrive, H... |
ORPHA:79319 |
| Agammaglobulinemia 10, Autosomal Dominant |
|
Transient neutropenia, Absent circulating B cells |
OMIM:619707 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Large for gestational age, Neonatal hypoglycemia, Hepatomegaly, Elevated circulating hepatic tran... |
ORPHA:263455 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hyperinsulinemia, Fasting hypoglycemia, Small for gestational age, Precocious puberty, Hyperglyce... |
OMIM:262190 |
| Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Impaired lymphocyte transformation with phytohemagglutinin, Sple... |
OMIM:269840 |
| Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Macrothrombocytopenia, Impaired platelet aggregation |
OMIM:613112 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Obesity, Hyperinsulinemia |
ORPHA:329249 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia |
OMIM:314000 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Thrombocytopenia, Microangiopathic hemolytic anemia |
OMIM:141000 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
B lymphocytopenia, Lymphopenia, T lymphocytopenia |
ORPHA:277 |
| Immunodeficiency 68 |
|
B lymphocytopenia, Abscess, Abnormal natural killer cell count, T lymphocytopenia |
OMIM:612260 |
| Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Hemophagocytosis, Decr... |
OMIM:619802 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypersplenism, Thrombocytopenia, Anemia, Splenomegaly |
OMIM:610539 |
| Immunodeficiency 57 With Autoinflammation |
|
B lymphocytopenia, Reduced natural killer cell count, Perianal abscess, T lymphocytopenia |
OMIM:618108 |
| Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Erythroid hypoplasia, Acute myeloid leukemia, Macrocytic anemia, Abnormal neutrophil morphology, ... |
ORPHA:86841 |
| Hemochromatosis, Neonatal |
|
Cirrhosis, Cholestasis, Hypoglycemia, Hepatocellular necrosis, Prolonged neonatal jaundice, Hepat... |
OMIM:231100 |
| X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
| Nephrotic Syndrome, Type 7 |
|
Thrombocytopenia, Hemolytic anemia |
OMIM:615008 |
| Isovaleric Acidemia |
|
Bone marrow hypocellularity, Thrombocytopenia, Leukopenia, Pancytopenia |
OMIM:243500 |
| Aicardi-Goutieres Syndrome 6 |
|
Thrombocytopenia, Splenomegaly, Hemolytic anemia |
OMIM:615010 |
| Lymphoproliferative Syndrome 1 |
|
Autoimmune hemolytic anemia, Anemia, Hemophagocytosis, Pancytopenia, Decreased proportion of CD4-... |
OMIM:613011 |
| Phosphoglycerate Dehydrogenase Deficiency |
|
Megaloblastic anemia, Thrombocytopenia |
OMIM:601815 |
| Bernard-Soulier Syndrome |
|
Macrothrombocytopenia, Thrombocytopenia, Giant platelets, Impaired ristocetin-induced platelet ag... |
OMIM:231200 |
| Diamond-Blackfan Anemia 4 |
|
Reticulocytopenia, Erythroid hypoplasia, Macrocytic anemia, Neutropenia |
OMIM:612527 |
| Idiopathic Aplastic Anemia |
|
Anemia, Pancytopenia, Reticulocytopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia |
ORPHA:88 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmune thrombocytopenia, Lymphopenia, D... |
OMIM:619846 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Hypertriglyceridemia, Lipoatrophy, Hepatomegaly, Pancreatitis, Increased facial adipose tissue, L... |
ORPHA:280365 |
| Braddock-Carey Syndrome 2 |
|
Microphthalmia, Thrombocytopenia |
OMIM:619981 |
| Immunodeficiency 32B |
|
Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Eosinophilia, Impaired oxida... |
OMIM:226990 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentr... |
OMIM:608594 |
| Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Esophageal neoplasm, Gastrointestinal hemorrhage, Hepatomegaly, Abnormal esophagus physiology, Ga... |
ORPHA:2198 |
| Agammaglobulinemia 2, Autosomal Recessive |
|
Abnormal T cell morphology, Absent circulating B cells |
OMIM:613500 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Elevated circulating hepatic transaminase concentration, Ketotic hypoglycemia, Hyperlipidemia, Gl... |
ORPHA:2089 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Anemia, Hemophagocytosis, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly |
OMIM:613101 |
| Obesity Due To Sim1 Deficiency |
|
Obesity, Hyperinsulinemia, Glucose intolerance |
ORPHA:369873 |
| Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Acute myeloid leukemia, Monocytosis, Bone marrow hypocellularity, Leukopenia, Refractory anemia |
OMIM:616871 |
| Non-Involuting Congenital Hemangioma |
|
Thrombocytopenia |
ORPHA:141179 |
| Congenital Toxoplasmosis |
|
Thrombocytopenia, Microphthalmia, Anemia |
ORPHA:858 |
| Noonan Syndrome 12 |
|
Thrombocytopenia, Lymphopenia |
OMIM:618624 |
| Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Neutropenia |
OMIM:610738 |
| Donohue Syndrome |
|
Hyperinsulinemia, Severe failure to thrive, Fasting hypoglycemia, Cholestasis, Precocious puberty... |
OMIM:246200 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Decreased liver function, Failure to thrive, Hypoglycemia |
ORPHA:67048 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Hypochromic... |
ORPHA:67044 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Autoimmune hemolytic anemia, Hemophagocytosis, B lymphocytopenia, Bone marrow hypocellularity, Ag... |
OMIM:301078 |
| Blue Diaper Syndrome |
|
Elevated circulating thyroid-stimulating hormone concentration, Elevated circulating hepatic tran... |
ORPHA:94086 |
| Propionic Acidemia |
|
Hypoglycemia, Hepatomegaly |
ORPHA:35 |
| Glycogen Storage Disease Ixb |
|
Hypoglycemia, Hepatomegaly, Splenomegaly, Increased hepatic glycogen content |
OMIM:261750 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly |
OMIM:617441 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Delayed puberty, Delayed thelarche, Dorsocervical fat pad, Hyperinsulinemic hypoglycemia, Diabete... |
OMIM:616033 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Obesity, Hyperinsulinemia |
OMIM:618406 |
| Mandibuloacral Dysplasia |
|
Hypertriglyceridemia, Lipoatrophy, Hyperinsulinemia, Reduced intrathoracic adipose tissue, Loss o... |
ORPHA:2457 |
| Hyperinsulinism-Hyperammonemia Syndrome |
|
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia |
ORPHA:35878 |
| Diamond-Blackfan Anemia 8 |
|
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia |
OMIM:612563 |
| Microphthalmia, Isolated 8 |
|
Microphthalmia, True anophthalmia, Anophthalmia, Retinal detachment, Optic nerve hypoplasia, Reti... |
OMIM:615113 |
| Thyrocerebrorenal Syndrome |
|
Thrombocytopenia |
ORPHA:3327 |
| Bone Marrow Failure Syndrome 6 |
|
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Bone marrow hypocellulari... |
OMIM:618849 |
| Babesiosis |
|
Thrombocytopenia, Leukopenia, Splenomegaly, Hemolytic anemia |
ORPHA:108 |
| Agammaglobulinemia 9, Autosomal Recessive |
|
Thrombocytopenia, Absent circulating B cells |
OMIM:619693 |
| Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
|
Aplasia/Hypoplasia of the optic nerve, Optic nerve hypoplasia, Pulmonic stenosis, Abnormal pulmon... |
ORPHA:137634 |
| Immunodeficiency 85 And Autoimmunity |
|
T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr... |
OMIM:619510 |
| Aregenerative Anemia |
|
Erythroid hypoplasia, Pancytopenia, Abnormal proportion of CD8-positive T cells, Reticulocytopeni... |
ORPHA:101096 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Steatorrhea, Hepatomegaly, Cirrhosis, Failure to thrive, Hyperinsulinemic hypoglycemia, Hepatic f... |
OMIM:602579 |
| Bdv Syndrome |
|
Delayed puberty, Hyperinsulinemia, Decreased thyroid-stimulating hormone level, Reduced TSH respo... |
OMIM:619326 |
| Immunodeficiency, Common Variable, 1 |
|
Decreased proportion of class-switched memory B cells, B lymphocytopenia, Neutropenia in presence... |
OMIM:607594 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Anemia, Pancytopenia, B lymphocytopenia, Increased proportion of effector memory CD8-positive, al... |
OMIM:619824 |
| Systemic Lupus Erythematosus |
|
Thrombocytopenia, Leukopenia, Hemolytic anemia |
OMIM:152700 |
| Leishmaniasis |
|
Anemia, Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Thrombocytopenia |
ORPHA:507 |
| Glucocorticoid Deficiency 1 |
|
Abnormal circulating renin, Failure to thrive, Decreased circulating cortisol level, Abnormal cir... |
OMIM:202200 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Autoimmune hemolytic anemia, Iron deficiency anemia, Neutropenia in presence of anti-neutropil an... |
OMIM:603909 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Perimembranous ventricular septal defect, Optic disc pallor |
OMIM:619170 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Acute lymphoblastic leukemia, Hep... |
ORPHA:158057 |
| Isolated Agammaglobulinemia |
|
Anemia, Abnormal lymphocyte morphology, Thrombocytopenia, Recurrent cutaneous abscess formation, ... |
ORPHA:229717 |
| Rapidly Involuting Congenital Hemangioma |
|
Thrombocytopenia |
ORPHA:141184 |
| Acquired Generalized Lipodystrophy |
|
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Hyperinsulinemia, Panniculitis, Generalized lipody... |
ORPHA:79086 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Abnormal T cell morphology, Neutropenia |
OMIM:613502 |
| Immunodeficiency 115 With Autoinflammation |
|
Decreased proportion of memory T cells, Anemia, Splenomegaly, T lymphocytopenia |
OMIM:620632 |
| Leptin Deficiency Or Dysfunction |
|
Decreased serum leptin, Obesity, Hypogonadism |
OMIM:614962 |
| Combined Oxidative Phosphorylation Deficiency 36 |
|
Failure to thrive, Hypoglycemia, Elevated circulating alanine aminotransferase concentration, Ele... |
OMIM:617950 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentr... |
OMIM:269700 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Absent circulating B cells, Splenomegaly, Pancytopenia |
OMIM:620282 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Thrombocytopenia, Anemia, Neutropenia |
ORPHA:289916 |
| Perlman Syndrome |
|
Hyperinsulinemia, Hepatomegaly, Abnormal pancreas morphology, Inguinal hernia, Femoral hernia |
ORPHA:2849 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Impaired platelet aggregation, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-ind... |
OMIM:617443 |
| Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Hypopituitarism, Glucose intolerance |
OMIM:145750 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Hypoplasia of the ... |
OMIM:619313 |
| 14Q22Q23 Microdeletion Syndrome |
|
Optic nerve aplasia, Anophthalmia |
ORPHA:264200 |
| Omenn Syndrome |
|
Anemia, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymphocytopenia, Thrombocytopenia, ... |
OMIM:603554 |
| Thrombocytopenia, Paris-Trousseau Type |
|
Thrombocytopenia |
OMIM:188025 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive helper T cells, Splenomegaly, Decreased proportion of CD4-po... |
OMIM:300853 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Thrombocytopenia, Leukopenia, Anemia, Macrocytic anemia |
ORPHA:27 |
| Autoinflammation With Infantile Enterocolitis |
|
Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Reduced natural killer cell count |
OMIM:616050 |
| Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:164180 |
| Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the thymus, T lymphocyt... |
OMIM:300400 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Macrothrombocytopenia, Decreased platelet glycoprotein Ib, Thrombocytopenia, Neutropenia |
OMIM:603585 |
| Hemochromatosis, Type 3 |
|
Neutropenia, Anemia, Lymphopenia |
OMIM:604250 |
| Low Phospholipid-Associated Cholelithiasis |
|
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Pancreatitis, ... |
ORPHA:69663 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Thrombocytopenia, Anemia, Splenomegaly, Neutropenia |
ORPHA:79312 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
B lymphocytopenia, Decreased proportion of class-switched memory B cells, Absent circulating B ce... |
OMIM:619705 |
| Attrv30M Amyloidosis |
|
Cardiomegaly, Vitreous floaters, Cardiomyopathy, Abnormal autonomic nervous system physiology |
ORPHA:85447 |
| Immunodeficiency 114, Folate-Responsive |
|
Megaloblastic anemia, Thrombocytopenia, Splenomegaly, Lymphopenia |
OMIM:620603 |
| Aicardi-Goutieres Syndrome 4 |
|
Thrombocytopenia, Hepatosplenomegaly, Splenomegaly, Pancytopenia |
OMIM:610333 |
| Specific Granule Deficiency 2 |
|
Thrombocytopenia, Absent neutrophil specific granules, Anemia, Neutropenia |
OMIM:617475 |
| Atelis Syndrome 1 |
|
Thrombocytopenia, Leukopenia, Anemia |
OMIM:620184 |
| Combined Oxidative Phosphorylation Deficiency 47 |
|
Failure to thrive, Hypoglycemia, Hepatomegaly, Elevated circulating hepatic transaminase concentr... |
OMIM:618958 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
B lymphocytopenia, T lymphocytopenia |
ORPHA:217390 |
| Mu-Heavy Chain Disease |
|
Anemia, Splenomegaly, Abnormal B cell count |
ORPHA:100024 |
| Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:600776 |
| Immunodeficiency, Common Variable, 6 |
|
Autoimmune thrombocytopenia, Abnormal T cell count, Abnormal B cell count |
OMIM:613496 |
| Platelet Disorder, Undefined |
|
Impaired platelet aggregation, Thrombocytopenia |
OMIM:173420 |
| Long-Olsen-Distelmaier Syndrome |
|
Microspherophakia, Optic nerve hypoplasia, Secundum atrial septal defect, Cardiomegaly, Dilated c... |
OMIM:620609 |
| Bornholm Eye Disease |
|
Optic nerve hypoplasia, Abnormality of retinal pigmentation |
OMIM:300843 |
| Immunodeficiency 67 |
|
Liver abscess, Abnormal natural killer cell count, Abnormal T cell count, Transient neutropenia, ... |
OMIM:607676 |
| Adult Idiopathic Neutropenia |
|
Monocytopenia, Monocytosis, Neutropenia, Lymphopenia |
ORPHA:2688 |
| Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Decreased proportion of memory B cells, Thrombocytopenia, Increased CD4:CD8 ratio, B lymphocytopenia |
OMIM:618048 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Abnormal T cell morphology, B lymphocytopenia |
OMIM:612692 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Abnormal circulating renin, Congenital hypothyroidism, Precocious puberty, Failure to thrive, Dec... |
OMIM:614736 |
| Primary Myelofibrosis |
|
Anemia, Pancytopenia, Extramedullary hematopoiesis, Leukocytosis, Poikilocytosis, Hepatosplenomeg... |
ORPHA:824 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Thrombocytopenia |
OMIM:614727 |
| Congenital Rubella Syndrome |
|
Microphthalmia, Anemia, Thrombocytopenia, Splenomegaly, Aplasia/Hypoplasia of the iris |
ORPHA:290 |
| Pelger-Huet Anomaly |
|
Giant platelets, Hyposegmentation of neutrophil nuclei, Thrombocytopenia, Abnormality of neutroph... |
OMIM:169400 |
| Immunodeficiency 81 |
|
Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Impaired coll... |
OMIM:619374 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Fasting hypoglycemia, Elevated circulating alanine aminotransferase concentration, ... |
OMIM:261680 |
| Thrombotic Thrombocytopenic Purpura |
|
Microangiopathic hemolytic anemia, Thrombocytopenia, Reticulocytosis |
ORPHA:54057 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Acute leukemia, Abnormal neutrophil count, Myeloproliferative disorder, Leukocytosis, Bone marrow... |
ORPHA:3226 |
| Thyrocerebroretinal Syndrome |
|
Thrombocytopenia |
OMIM:274240 |
| Gaucher Disease, Type Iii |
|
Thrombocytopenia, Splenomegaly, Pancytopenia |
OMIM:231000 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Autoimmune hemolytic anemia, Abnormal natural killer cell count, Decreased proportion of CD3-posi... |
ORPHA:331206 |
| Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Decreased proporti... |
OMIM:617237 |
| Meckel Syndrome, Type 8 |
|
Microphthalmia, Anophthalmia |
OMIM:613885 |
| Fanconi-Bickel Syndrome |
|
Hypertriglyceridemia, Hepatomegaly, Fasting hypoglycemia, Increased hepatic glycogen content, Hep... |
ORPHA:2088 |
| Transaldolase Deficiency |
|
Thrombocytopenia, Anemia, Hepatosplenomegaly |
ORPHA:101028 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Anophthalmia |
ORPHA:411986 |
| Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Cholestatic liver disease, Hepatomegaly, Hypoketotic hypoglycemia, Failure to thrive, Hypoglycemia |
ORPHA:5 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Neutropenia |
OMIM:616949 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemic seizures, Neonatal hypoglycemia, Elevated circulating hepatic transaminase concentra... |
ORPHA:71212 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Decreased liver function, Hypoglycemia, Elevated circulating hepatic transaminase concentration, ... |
OMIM:615160 |
| Imerslund-Gräsbeck Syndrome |
|
Anisopoikilocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Abnormal hemoglobin c... |
ORPHA:35858 |
| Diffuse Neonatal Hemangiomatosis |
|
Thrombocytopenia, Anemia |
ORPHA:2123 |
| Immunodeficiency 70 |
|
B lymphocytopenia, Decreased proportion of CD4-positive helper T cells |
OMIM:618969 |
| Glucocorticoid Deficiency 3 |
|
Abnormal circulating renin, Decreased circulating cortisol level, Decreased circulating aldostero... |
OMIM:609197 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Anemia, Decreased FOXP3-expressing T cell count, Thrombocytopenia, Coombs-positive hemolytic anem... |
OMIM:304790 |
| Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr... |
OMIM:616005 |
| Fetal Gaucher Disease |
|
Stillbirth, Pancytopenia, Neonatal death, Thrombocytopenia, Abnormality of the spleen, Splenomegaly |
ORPHA:85212 |
| Craniotelencephalic Dysplasia |
|
Optic nerve hypoplasia, Microphthalmia |
OMIM:218670 |
| Aggressive Systemic Mastocytosis |
|
Anemia, Increased proportion of CD25+ mast cells, Pancytopenia, Leukocytosis, Hepatosplenomegaly,... |
ORPHA:98850 |
| Congenital Isolated Acth Deficiency |
|
Hypoglycemic seizures, Neonatal hypoglycemia, Adrenal hypoplasia, Prolonged neonatal jaundice, De... |
ORPHA:199296 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hyperinsulinemia, Hypergonadotropic hypogonadism, Obesity, Type II diabetes mellitus, Keloids |
ORPHA:3085 |
| Whim Syndrome 1 |
|
Neutropenia |
OMIM:193670 |
| Pyruvate Dehydrogenase E3 Deficiency |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypogly... |
ORPHA:2394 |
| Sea-Blue Histiocytosis |
|
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly |
ORPHA:158029 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Neutropenia |
OMIM:606843 |
| Myh9-Related Disease |
|
Increased mean platelet volume, Neutrophil inclusion bodies, Giant platelets, Congenital thromboc... |
ORPHA:182050 |
| Moyamoya Disease 6 With Or Without Achalasia |
|
Thrombocytopenia |
OMIM:615750 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Autoimmune hemolytic anemia, Pancytopenia, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:572 |
| Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Transient hyperlipidemia, ... |
ORPHA:156 |
| Leukodystrophy, Hypomyelinating, 24 |
|
B lymphocytopenia |
OMIM:619851 |
| Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature |
|
Anemia, Schistocytosis, Leukopenia, Thrombocytopenia, Lymphopenia, Hemolytic anemia, Neutropenia |
OMIM:301110 |
| Anencephaly 2 |
|
Anophthalmia |
OMIM:619452 |
| Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
B lymphocytopenia, Decreased proportion of memory B cells |
ORPHA:70593 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... |
OMIM:618052 |
| Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Poikilocytosis, Anemia of inadequate production, Acanthocytosis, Congenital thrombocytopenia |
OMIM:300367 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Cardiomegaly, Atrial septal defect, Perimembranous ventricular septal defect, Hypertrophic cardio... |
OMIM:620135 |
| Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
B lymphocytopenia, Abnormal natural killer cell morphology, T lymphocytopenia |
OMIM:615966 |
| Congenital Myopathy 8 |
|
Cardiomegaly, High palate |
OMIM:618654 |
| Tufted Angioma |
|
Thrombocytopenia, Anemia |
ORPHA:1063 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Thrombocytopenia, Anemia, Lymphopenia |
OMIM:620365 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, T lymphocytopenia, Hepatosplenomegaly, Lymphopenia, Abnormally low T cell ... |
OMIM:242700 |
| Aicardi-Goutieres Syndrome 5 |
|
Thrombocytopenia |
OMIM:612952 |
| Matthew-Wood Syndrome |
|
Microphthalmia, Abnormal spleen morphology, Anophthalmia |
ORPHA:2470 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Megaloblastic anemia, Thrombocytopenia |
ORPHA:49827 |
| Joubert Syndrome 40 |
|
Optic nerve hypoplasia |
OMIM:619582 |
| Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Cirrhosis, Jaundice, Elevated circulating alanine aminotransferase concentration, Failure to thri... |
OMIM:617049 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Thrombocytopenia, Anemia, Splenomegaly, Reticulocytosis |
OMIM:611490 |
| Pituitary Hormone Deficiency, Combined, 2 |
|
Hypoglycemic seizures, Neonatal hypoglycemia, Decreased thyroid-stimulating hormone level, Reduce... |
OMIM:262600 |
| Beta-Thalassemia |
|
Anemia, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin, Microcytic anemia |
ORPHA:848 |
| Relapsing Fever |
|
Anemia, Leukocytosis, Neutrophilia, Thrombocytopenia, Leukopenia |
ORPHA:91547 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Autoimmune hemolytic anemia, Thrombocytopenia |
OMIM:616576 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Steatorrhea, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypoglycemia,... |
OMIM:605911 |
| Diamond-Blackfan Anemia 5 |
|
Leukopenia, Reticulocytopenia, Erythroid hypoplasia, Macrocytic anemia |
OMIM:612528 |
| Disabling Pansclerotic Morphea Of Childhood |
|
Neutropenia, Lymphopenia |
OMIM:620443 |
| Attrv122I Amyloidosis |
|
Cardiac amyloidosis, Restrictive cardiomyopathy, Abnormal autonomic nervous system physiology, Hy... |
ORPHA:85451 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hyperinsulinemia, Hepatomegaly, Increased facial adipose tissue, Loss of subcutaneous adipose tis... |
OMIM:248370 |
| Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Eosinophilia, T lymphocytopenia |
OMIM:610163 |
| Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular ... |
ORPHA:86839 |
| Letterer-Siwe Disease |
|
Thrombocytopenia, Anemia, Hepatosplenomegaly, Neutropenia |
OMIM:246400 |
| Pyruvate Carboxylase Deficiency |
|
Hypoglycemia, Hepatomegaly |
OMIM:266150 |
| Cyclic Neutropenia |
|
Perianal abscess, Lymphopenia, Tooth abscess, Thrombocytopenia, Decreased eosinophil count, Cycli... |
ORPHA:2686 |
| Gamma-Heavy Chain Disease |
|
Autoimmune hemolytic anemia, Anemia, Abnormal lymphocyte morphology, Thrombocytopenia, Splenomega... |
ORPHA:100026 |
| Quebec Platelet Disorder |
|
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation |
OMIM:601709 |
| Aniridia-Intellectual Disability Syndrome |
|
Optic nerve hypoplasia, Aniridia |
ORPHA:1068 |
| Congenital Disorder Of Glycosylation, Type Iiaa |
|
Hepatomegaly, Knee flexion contracture, Cholestasis, Biliary cirrhosis, Hypoglycemia, Elevated ci... |
OMIM:620454 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Large for gestational age, Hepatomegaly, Elevated circulating hepatic transaminase concentration,... |
OMIM:616026 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Hepatosplenomegaly, Splenomegaly, Increased proportion autoreactive ... |
OMIM:618534 |
| Tularemia |
|
Anemia, Leukocytosis, Thrombocytopenia, Cutaneous abscess, Brain abscess |
ORPHA:3392 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hype... |
OMIM:613327 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Bone marrow hypocellularity, Thrombocytopenia, Anemia, Neutropenia |
OMIM:614520 |
| Immunodeficiency 92 |
|
Decreased proportion of class-switched memory B cells, Lymphocytosis, B lymphocytopenia, Leukocyt... |
OMIM:619652 |
| Ornithine Transcarbamylase Deficiency |
|
Hypoglycemia, Splenomegaly, Hepatic failure |
ORPHA:664 |
| Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia, Splenomegaly |
ORPHA:66518 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Delayed puberty, Hepatocellular adenoma, Cirrhosis, Portal fibrosis, Elevat... |
ORPHA:264580 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Increased mean corpuscular volume, Megaloblastic anemia, Thrombocytopenia, Pancytopenia |
OMIM:613839 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Thrombocytopenia, ... |
OMIM:616959 |
| Trisomy 13 |
|
Microphthalmia, Aplasia/Hypoplasia of the iris, Anophthalmia |
ORPHA:3378 |
| Immunodeficiency 40 |
|
Eosinophilic granuloma, Thrombocytopenia, T lymphocytopenia |
OMIM:616433 |
| Neonatal Lupus Erythematosus |
|
Aplastic anemia, Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hemolytic anemia, Neutropenia |
ORPHA:398124 |
| Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Optic atrophy, Optic nerve hypoplasia, Peripheral axonal neuropathy, Hypertrophic cardiomyopathy |
ORPHA:496790 |
| Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Bone marrow hypocellularity, Thrombocytopenia, Hepatosplenomegaly |
ORPHA:210136 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Bone marrow hypocellularity, Thrombocytopenia, Pancytopenia |
OMIM:613987 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Decreased adipose tissue around neck, Hyperinsulinemia, Generalized lipodystrophy, Loss of trunca... |
OMIM:608612 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Thrombocytopenia, Thiamine-responsive megaloblastic anemia |
OMIM:249270 |
| Gray Platelet Syndrome |
|
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Impaired colla... |
OMIM:139090 |
| Stt3B-Cdg |
|
Thrombocytopenia |
ORPHA:370924 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Impaired epinephrine-induced platelet aggregation, Absence of alpha granules, Impaired collagen-i... |
OMIM:187900 |
| Polymicrogyria With Optic Nerve Hypoplasia |
|
Optic nerve hypoplasia |
ORPHA:250972 |
| Chediak-Higashi Syndrome |
|
Anemia, Hemophagocytosis, Leukopenia, Splenomegaly, Impaired neutrophil bactericidal activity, Th... |
OMIM:214500 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Retinal detachment, Optic nerve hypoplasia, Microphthalmia |
OMIM:615181 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Cardiomegaly, Hypertrophic cardiomyopathy |
OMIM:614096 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Impaired ristocetin-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Incr... |
OMIM:153670 |
| Griscelli Syndrome |
|
Bone marrow hypocellularity, Thrombocytopenia, Leukopenia, Splenomegaly, Abnormality of neutrophils |
ORPHA:381 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Aplastic anemia, Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia,... |
ORPHA:486 |
| Bangstad Syndrome |
|
Hyperinsulinemia, Hypothyroidism, Primary gonadal insufficiency, Abnormality of the parathyroid g... |
ORPHA:1227 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Thrombocytopenia |
OMIM:615597 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Increased body weight... |
ORPHA:189427 |
| Ziegler-Huang Syndrome |
|
Bone marrow hypocellularity, Persistence of hemoglobin F, Macrocytic anemia, Neutropenia |
OMIM:620501 |
| Pancreatic Agenesis 2 |
|
Steatorrhea, Pancreatic hypoplasia, Pancreatic aplasia, Exocrine pancreatic insufficiency, Diabet... |
OMIM:615935 |
| Acute Promyelocytic Leukemia |
|
Anemia, Pancytopenia, Leukocytosis, Leukopenia, Thrombocytopenia, Neutropenia |
ORPHA:520 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Thrombocytopenia, Leukocytosis |
ORPHA:83601 |
| Hermansky-Pudlak Syndrome 5 |
|
Absent platelet dense granules, Thrombocytopenia, Hypoplasia of the fovea, Impaired ADP-induced p... |
OMIM:614074 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 3 |
|
Autoimmune hemolytic anemia, Abnormal natural killer cell count, Abnormal T cell count, Abnormal ... |
OMIM:620430 |
| Pgm3-Cdg |
|
Decreased proportion of CD3-positive T cells, Neutropenia in presence of anti-neutropil antibodie... |
ORPHA:443811 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Optic atrophy, Pericardial effusion, Cardiomegaly, Hypertrophic cardiomyopathy |
OMIM:614702 |
| Chromosome 19P13.13 Deletion Syndrome |
|
Optic atrophy, Optic nerve hypoplasia |
OMIM:613638 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Situs inversus totalis, Optic nerve hypoplasia, Microphthalmia |
OMIM:614833 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Anemia, B lymphocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Leukopenia, Thrombocyt... |
ORPHA:508542 |
| Septooptic Dysplasia |
|
Optic nerve hypoplasia, Optic disc hypoplasia |
OMIM:182230 |
| Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Neutropenia |
OMIM:618752 |
| Estrogen Resistance |
|
Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Impaired glucose tole... |
OMIM:615363 |
| Visceral Myopathy 2 |
|
Intestinal obstruction, Rectal prolapse, Gastroesophageal reflux, Intestinal pseudo-obstruction, ... |
OMIM:619350 |
| Immunodeficiency 7 |
|
Autoimmune hemolytic anemia, Hypereosinophilia, Splenomegaly, Neutropenia |
OMIM:615387 |
| Rhabdoid Tumor |
|
Thrombocytopenia, Anemia |
ORPHA:69077 |
| X-Linked Intellectual Disability, Najm Type |
|
Optic atrophy, Optic nerve hypoplasia, Chorioretinal coloboma |
ORPHA:163937 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Thrombocytopenia, Leukopenia, Anemia, Pancytopenia |
OMIM:613845 |
| Glucocorticoid Resistance, Generalized |
|
Increased circulating androstenedione concentration, Increased serum testosterone level, Increase... |
OMIM:615962 |
| Thrombocytopenia 3 |
|
Decreased mean platelet volume, Thrombocytopenia |
OMIM:273900 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Anemia, Increased mean corpuscular volume, Sideroblastic anemia, Thrombocytopenia, Erythroid hype... |
OMIM:617021 |
| Neurooculocardiogenitourinary Syndrome |
|
Microphthalmia, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Ventricular septal defect |
OMIM:618652 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Aplastic anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Leukopenia, Neutrop... |
OMIM:613989 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Optic atrophy, Microphthalmia, Retinal detachment, Optic nerve hypoplasia, Cardiomyopathy, Macrog... |
ORPHA:370959 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic leukemia, Chron... |
ORPHA:98849 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Neutropenia |
ORPHA:2643 |
| Tenorio Syndrome |
|
Hypoglycemia, Hypoinsulinemia |
OMIM:616260 |
| Macrophage Activation Syndrome |
|
Anemia, Hemophagocytosis, Abnormal natural killer cell count, Thrombocytopenia, Splenomegaly, Neu... |
ORPHA:158061 |
| Immunodeficiency 91 And Hyperinflammation |
|
Hemophagocytosis, Neutrophilia, Thrombocytopenia, Hepatosplenomegaly, Monocytosis |
OMIM:619644 |
| Boutonneuse Fever |
|
Thrombocytopenia, Leukopenia |
ORPHA:83313 |
| Bresek Syndrome |
|
Optic nerve hypoplasia, Microphthalmia, Aganglionic megacolon, Cleft palate |
ORPHA:85284 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Macrocytic anemia, Reduction of neutrophil motility, Rectal abscess, Leukocytosis, Neutrophilia, ... |
OMIM:608203 |
| Sengers Syndrome |
|
Thrombocytopenia |
OMIM:212350 |
| Congenital Enterovirus Infection |
|
Anemia, Abnormal macrophage morphology, Leukocytosis, Leukopenia, Thrombocytopenia, Neutropenia |
ORPHA:292 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Anemia, Neutropenia |
OMIM:617056 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Thrombocytopenia, Normochromic anemia, Neutropenia |
OMIM:614857 |
| Cardiofaciocutaneous Syndrome 4 |
|
Pulmonic stenosis, Optic nerve hypoplasia, Ventricular septal hypertrophy, Abnormal aortic valve ... |
OMIM:615280 |
| Fanconi Anemia, Complementation Group E |
|
Microphthalmia, Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Leukemia, Neutropenia |
OMIM:600901 |
| Mulibrey Nanism |
|
Hepatomegaly, Pericardial constriction, Myocardial fibrosis, Microglossia, Cardiomegaly, Pigmenta... |
OMIM:253250 |
| Hereditary Folate Malabsorption |
|
Eosinophilia, Megaloblastic anemia, Thrombocytopenia, Pancytopenia |
ORPHA:90045 |
| Optic Atrophy 11 |
|
Optic atrophy, Decreased sensory nerve conduction velocity, Optic nerve hypoplasia, Facial dipleg... |
OMIM:617302 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
| Propionic Acidemia |
|
Pancytopenia, Thrombocytopenia, Anemia, Neutropenia |
OMIM:606054 |
| Seckel Syndrome 10 |
|
Hypertriglyceridemia, Acute pancreatitis, Impaired glucose tolerance, Elevated circulating alanin... |
OMIM:617253 |
| Immunodeficiency 17 |
|
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Abnormal B cell morpho... |
OMIM:615607 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Anemia, Abnormal natural killer cell count, Pancytopenia, Abnormal lymphocyte count, T lymphocyto... |
ORPHA:79124 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
| Fibular Hemimelia |
|
Thrombocytopenia, Anophthalmia |
ORPHA:93323 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Periportal fibro... |
OMIM:251880 |
| Craniotelencephalic Dysplasia |
|
Optic atrophy, Microphthalmia, Septo-optic dysplasia |
ORPHA:1528 |
| Immunodeficiency 43 |
|
Lung abscess, B lymphocytopenia, Reduced natural killer cell count |
OMIM:241600 |
| Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Acute myeloid leukemia, Abnormal dense granule content, Impaired platelet aggregation, Abnormal p... |
OMIM:601399 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Anemia, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly, Extramedullary hematopoiesis |
OMIM:259710 |
| Acute Radiation Syndrome |
|
Thrombocytopenia, Granulocytopenia, Lymphopenia |
ORPHA:454831 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal ventriculoarterial connection, Hepatomegaly, Ventricular septal defect, Anomalous pulmon... |
ORPHA:860 |
| Multiple Endocrine Neoplasia Type 4 |
|
Abnormality of the endocrine system, Pituitary growth hormone cell adenoma, Pituitary corticotrop... |
ORPHA:276152 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Thrombocytopenia, Splenomegaly |
OMIM:619463 |
| Griscelli Syndrome Type 2 |
|
Splenomegaly, Neutropenia, Hemophagocytosis, Pancytopenia |
ORPHA:79477 |
| Infantile Sialic Acid Storage Disease |
|
Cardiomegaly, Hepatomegaly, High palate, Splenomegaly |
OMIM:269920 |
| Anophthalmia Plus Syndrome |
|
Anophthalmia |
ORPHA:1104 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Increased mean platelet volume, Thrombocytopenia |
OMIM:300048 |
| Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities |
|
Thrombocytopenia |
OMIM:616577 |
| Verheij Syndrome |
|
Optic nerve hypoplasia, Truncus arteriosus, Ventricular septal defect, Cleft palate |
OMIM:615583 |
| Dengue Fever |
|
Thrombocytopenia, Leukopenia |
ORPHA:99828 |
| Diffuse Alveolar Hemorrhage |
|
Thrombocytopenia, Anemia, Leukocytosis |
ORPHA:90060 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Autoimmune hemolytic anemia, B lymphocytopenia, T lymphocytopenia, Hepatosplenomegaly, Decreased ... |
OMIM:606367 |
| Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Optic nerve hypoplasia |
ORPHA:65288 |
| Cognitive Impairment With Or Without Cerebellar Ataxia |
|
Optic nerve hypoplasia |
OMIM:614306 |
| Felty Syndrome |
|
Anemia, Abnormal lymphocyte morphology, Bone marrow hypocellularity, Thrombocytopenia, Splenomega... |
ORPHA:47612 |
| Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells |
OMIM:611926 |
| Familial Atrial Myxoma |
|
Cardiomegaly, Bacterial endocarditis, Pulmonic valve myxoma, Cardiac myxoma |
ORPHA:615 |
| Immune Thrombocytopenia |
|
Thrombocytopenia |
ORPHA:3002 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Autoimmune hemolytic anemia, Pancytopenia, Decreased proportion of class-switched memory B cells,... |
OMIM:614700 |
| Fanconi Anemia, Complementation Group A |
|
Microphthalmia, Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Leukemia, Neutropenia |
OMIM:227650 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Decreased liver function, Intrahepatic cholestasis, Jaundice, Hypoglycemia, Elevated circulating ... |
OMIM:617093 |
| Sitosterolemia 1 |
|
Chronic hemolytic anemia, Giant platelets, Anemia, Impaired platelet aggregation, Episodic hemoly... |
OMIM:210250 |
| Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
|
Optic nerve hypoplasia |
OMIM:618890 |
| X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Thrombocytopenia, Anemia, Neutropenia |
ORPHA:47 |
| Pituitary Hormone Deficiency, Combined, 6 |
|
Neonatal hypoglycemia, Decreased thyroid-stimulating hormone level, Decreased circulating ACTH co... |
OMIM:613986 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Thrombocytopenia, Leukopenia, Neutropenia |
OMIM:251000 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Anemia, Hemophagocytosis, Abnormal natural killer cell count, Pancytopenia, Thrombocytopenia, Spl... |
ORPHA:158048 |
| Microphthalmia, Syndromic 9 |
|
Multilobulated spleen, Bilateral microphthalmos, Anophthalmia, Hypoplastic spleen, Neonatal death |
OMIM:601186 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, B lymphocytopenia, Lymph... |
OMIM:102700 |
| Activated Pi3K-Delta Syndrome |
|
B lymphocytopenia, Splenomegaly |
ORPHA:397596 |
| Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Hepatic steatosis, Hypoglycemia, Hepatomegaly, Elevated circulating hepatic transaminase concentr... |
OMIM:201450 |
| Cockayne Syndrome Type 1 |
|
Anemia, Anophthalmia |
ORPHA:90321 |
| Infantile Liver Failure Syndrome 2 |
|
Acute hepatic failure, Hypoglycemia, Jaundice, Elevated circulating hepatic transaminase concentr... |
OMIM:616483 |
| Hsd10 Disease, Infantile Type |
|
Optic atrophy, Hypertrophic cardiomyopathy, Dysphagia, Gastrointestinal dysmotility, Cardiomegaly... |
ORPHA:391428 |
| Hydrolethalus |
|
Microphthalmia, Anophthalmia |
ORPHA:2189 |
| Von Willebrand Disease, Type 3 |
|
Impaired platelet aggregation, Thrombocytopenia |
OMIM:277480 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Aplastic anemia, Congenital thrombocytopenia, Amegakaryocytic thrombocytopenia |
OMIM:605432 |
| Pseudo-Torch Syndrome 3 |
|
Anemia, Leukocytosis, Congenital thrombocytopenia |
OMIM:618886 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
High, narrow palate, Optic nerve hypoplasia, Bilateral microphthalmos, Cleft palate |
OMIM:607597 |
| Cerebrooculonasal Syndrome |
|
Anophthalmia |
ORPHA:66625 |
| Fg Syndrome Type 1 |
|
Gastroesophageal reflux, Optic nerve hypoplasia, High palate, Anal atresia, Abnormal large intest... |
ORPHA:93932 |
| Tatton-Brown-Rahman Syndrome |
|
Optic nerve hypoplasia, Atrial septal defect, Ventricular septal defect |
OMIM:615879 |
| Immunodeficiency 22 |
|
Thrombocytopenia, Decreased proportion of CD4-positive helper T cells, Anemia, Abscess |
OMIM:615758 |
| Dyskeratosis Congenita, Autosomal Recessive 8 |
|
B lymphocytopenia, Reduced natural killer cell count, Bone marrow hypocellularity, Pancytopenia |
OMIM:620133 |
| Hepatoportal Sclerosis |
|
Anemia, Thrombocytopenia, Leukopenia, Splenomegaly, Hypersplenism |
ORPHA:64743 |
| Ebola Hemorrhagic Fever |
|
Thrombocytopenia, Leukopenia, Lymphopenia |
ORPHA:319218 |
| Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Hypoglycemia, Adrenogenital syndrome, Elevated circulating 21-deoxycortisol ... |
OMIM:201910 |
| Thrombocytopenia 6 |
|
Thrombocytopenia |
OMIM:616937 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Aplasia of the thymus, B lymphocytopenia, Splenomegaly, Lymphopenia, Abnormally low T cell recept... |
OMIM:602450 |
| 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hepatic steatosis, Hypoglycemia, Failure to thrive |
OMIM:210200 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia |
OMIM:612926 |
| Lissencephaly Due To Tuba1A Mutation |
|
Optic nerve hypoplasia, Aganglionic megacolon |
ORPHA:171680 |
| Thrombocytopenia 10 |
|
Decreased mean platelet volume, Thrombocytopenia |
OMIM:620484 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Hepatomegaly, Optic nerve hypoplasia, Pulmonic stenosis, Double outlet right ventricle, Megarectu... |
OMIM:301056 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia |
OMIM:612924 |
| Atypical Werner Syndrome |
|
Hypertriglyceridemia, Lipoatrophy, Delayed puberty, Hyperinsulinemia, Generalized lipodystrophy, ... |
ORPHA:79474 |
| 5Q14.3 Microdeletion Syndrome |
|
Optic nerve hypoplasia |
ORPHA:228384 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Absent natural killer cells, Lymphopenia, Impaired lymphocyte transformation with phytohemaggluti... |
OMIM:600802 |
| 3-Methylglutaconic Aciduria, Type Viia |
|
Anisopoikilocytosis, Anemia, Neutropenia |
OMIM:619835 |
| Cog4-Cdg |
|
Thrombocytopenia, Hepatosplenomegaly |
ORPHA:263501 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Thrombocytopenia, Neonatal death, Anemia |
OMIM:608104 |
| Optic Atrophy-Intellectual Disability Syndrome |
|
Optic atrophy, Optic nerve hypoplasia, Optic disc hypoplasia |
ORPHA:401777 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Anemia, Increased mean corpuscular volume, Bone marrow hypocellularity, Leukopen... |
OMIM:127550 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
B lymphocytopenia |
OMIM:614069 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Reduced natural killer cell count, Neutropenia, Cutaneous abscess, Lymphopenia |
OMIM:619752 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Aplastic anemia, Anemia, Macrocytic anemia, Pancytopenia, Bone marrow hypocellularity, Leukopenia... |
OMIM:613990 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Left atrial enlargement, Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Le... |
OMIM:300280 |
| Hoyeraal-Hreidarsson Syndrome |
|
Abnormal leukocyte morphology, Thrombocytopenia, Anemia, Bone marrow hypocellularity |
ORPHA:3322 |
| Hermansky-Pudlak Syndrome 2 |
|
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Hepatosplenomegaly, Sp... |
OMIM:608233 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Jaundice, Hyperactive renin-angiotensin system, Adrenal hyperplasia, Failure to thrive, Decreased... |
ORPHA:90790 |
| Cholesteryl Ester Storage Disease |
|
Anemia, Bone-marrow foam cells, Leukopenia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, H... |
OMIM:278000 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Reduced natural killer cell count, T lymphocytopenia |
OMIM:242860 |
| Fanconi Anemia, Complementation Group I |
|
Microphthalmia, Optic nerve hypoplasia, Patent foramen ovale, Atrial septal defect, Ventricular s... |
OMIM:609053 |
| Microphthalmia With Limb Anomalies |
|
Microphthalmia, Anophthalmia |
OMIM:206920 |
| Zika Virus Disease |
|
Thrombocytopenia, Optic disc hypoplasia |
ORPHA:448237 |
| Beemer-Ertbruggen Syndrome |
|
Thrombocytopenia |
ORPHA:1237 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly |
OMIM:600649 |
| Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities |
|
Optic nerve hypoplasia |
OMIM:620502 |
| Fanconi Anemia, Complementation Group C |
|
Microphthalmia, Anemia, Pancytopenia, Reticulocytopenia, Bone marrow hypocellularity, Thrombocyto... |
OMIM:227645 |
| Holoprosencephaly 13, X-Linked |
|
Gastroesophageal reflux, Duodenal atresia, Optic nerve hypoplasia, Patent foramen ovale, Septo-op... |
OMIM:301043 |
| Microphthalmia With Brain And Digit Anomalies |
|
Microphthalmia, Anophthalmia |
ORPHA:139471 |
| Tafro Syndrome |
|
Anemia, Leukocytosis, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly |
ORPHA:457077 |
| Gaucher Disease, Type I |
|
Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hypersplenism |
OMIM:230800 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia |
OMIM:612925 |
| Fanconi Anemia, Complementation Group F |
|
Microphthalmia, Anemia, Bone marrow hypocellularity, Thrombocytopenia, Leukopenia |
OMIM:603467 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Thrombocytopenia, Splenomegaly, Hemolytic anemia, Hypoplasia of the iris |
ORPHA:169090 |
| Septo-Optic Dysplasia Spectrum |
|
Esophageal atresia, Optic nerve hypoplasia, Tracheoesophageal fistula, Septo-optic dysplasia, Cle... |
ORPHA:3157 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Neutropenia, Lymphopenia |
OMIM:614868 |
| Fetal Cytomegalovirus Syndrome |
|
Thrombocytopenia, Anemia, Splenomegaly |
ORPHA:294 |
| Cockayne Syndrome Type 2 |
|
Anophthalmia |
ORPHA:90322 |
| Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Anophthalmia |
OMIM:147250 |
| Drug-Induced Lupus Erythematosus |
|
Thrombocytopenia, Anemia |
ORPHA:231111 |
| Fixed Subaortic Stenosis |
|
Atrioventricular canal defect, Cardiomegaly, Bacterial endocarditis, Pulmonic stenosis, Abnormal ... |
ORPHA:3092 |
| Combined Oxidative Phosphorylation Deficiency 40 |
|
Decreased liver function, Hypoglycemia, Decreased circulating cortisol level |
OMIM:618835 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Acute hepatic failure... |
OMIM:615453 |
| Kasabach-Merritt Phenomenon |
|
Anemia, Reticulocytosis, Leukopenia, Thrombocytopenia, Microangiopathic hemolytic anemia, Neutrop... |
ORPHA:2330 |
| Combined Oxidative Phosphorylation Deficiency 42 |
|
Decreased liver function, Hypoglycemia, Decreased circulating cortisol level |
OMIM:618839 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
B lymphocytopenia, Hepatosplenomegaly, Neutropenia |
OMIM:301081 |
| Pituitary Stalk Interruption Syndrome |
|
Delayed puberty, Diabetes insipidus, Adrenal hypoplasia, Abnormality of the hypothalamus-pituitar... |
ORPHA:95496 |
| Methylmalonic Aciduria, Cblb Type |
|
Pancytopenia, Thrombocytopenia, Anemia, Neutropenia |
OMIM:251110 |
| Hyperlysinemia, Type I |
|
Optic nerve hypoplasia |
OMIM:238700 |
| Pancreatic And Cerebellar Agenesis |
|
Pancreatic hypoplasia, Pancreatic aplasia, Reduced subcutaneous adipose tissue, Failure to thrive... |
OMIM:609069 |
| Congenital Tricuspid Valve Dysplasia |
|
Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram... |
ORPHA:555874 |
| Schimke Immunoosseous Dysplasia |
|
Abnormal T cell morphology, Anemia, Pancytopenia, Thrombocytopenia, Lymphopenia, Neutropenia |
OMIM:242900 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:77298 |
| Rett Syndrome |
|
Increased serum leptin, Failure to thrive, Cholecystitis |
ORPHA:778 |
| Cerebral Visual Impairment |
|
Optic atrophy, Optic nerve hypoplasia, Increased cup-to-disc ratio, Retinopathy of prematurity, O... |
ORPHA:447788 |
| Walker-Warburg Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:899 |
| Trisomy 1Q |
|
Anophthalmia |
ORPHA:261344 |
| Neuraminidase Deficiency |
|
Hepatomegaly, Cardiomyopathy, Splenomegaly, Cherry red spot of the macula, Cardiomegaly |
OMIM:256550 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Hypertriglyceridemia, Cholestatic liver disease, Cirrhosis, Hepatomegaly, Neonatal hypoglycemia, ... |
OMIM:619418 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Thrombocytopenia, Anemia, Splenomegaly, Lymphopenia |
OMIM:617591 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Cardiomegaly, Hepatomegaly |
OMIM:619064 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Anemia, Hemophagocytosis, Thrombocytopenia, Leukopenia, Splenomegaly |
OMIM:267700 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Cirrhosis, Jaundice, Macrovesicular hepatic steatosis, Hepatomegaly, Microvesicular hepatic steat... |
OMIM:256810 |
| Schimke Immuno-Osseous Dysplasia |
|
Anemia, Abnormal proportion of naive CD4 T cells, Decreased proportion of naive CD8 T cells, Bone... |
ORPHA:1830 |
| Stormorken Syndrome |
|
Anemia, Howell-Jolly bodies, Asplenia, Hypoplastic spleen, Thrombocytopenia |
OMIM:185070 |
| Trichothiodystrophy 3, Photosensitive |
|
Microphthalmia, Neutropenia, Lymphopenia |
OMIM:616395 |
| X-Linked Acrogigantism |
|
Delayed puberty, Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Increased... |
ORPHA:300373 |
| Late-Onset Isolated Acth Deficiency |
|
Hypoparathyroidism, Decreased circulating ACTH concentration, Hypoglycemia, Adrenocorticotropic h... |
ORPHA:199299 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Cardiomegaly, Fatigable weakness of neck muscles, Hepatomegaly, Fatigable weakness |
ORPHA:42 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly, Gastroesophageal reflux |
ORPHA:3137 |
| Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Optic nerve hypoplasia, Submucous cleft hard palate, High palate, Tetralogy of Fallot |
OMIM:222765 |
| Refsum Disease, Classic |
|
Cardiomegaly, Cardiomyopathy, Retinal degeneration, Rod-cone dystrophy |
OMIM:266500 |
| Spastic Paraplegia 54, Autosomal Recessive |
|
Optic nerve hypoplasia, High palate, Dysphagia |
OMIM:615033 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, T lymphocytopenia,... |
ORPHA:35078 |
| Developmental And Epileptic Encephalopathy 66 |
|
Anemia, Neutropenia |
OMIM:618067 |
| Alstrom Syndrome |
|
Hypertriglyceridemia, Decreased response to growth hormone stimulation test, Hepatomegaly, Elevat... |
OMIM:203800 |
| Prolidase Deficiency |
|
Thrombocytopenia, Anemia, Splenomegaly |
OMIM:170100 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Anemia, Hemophagocytosis, Pancytopenia, Leukopenia, Splenomegaly, Hepatosplenomegaly, Thrombocyto... |
OMIM:603553 |
| Von Willebrand Disease |
|
Abnormality of thrombocytes, Abnormal platelet function, Thrombocytopenia, Microcytic anemia |
ORPHA:903 |
| Phace Association |
|
Optic atrophy, Microphthalmia, Optic nerve hypoplasia, Increased retinal vascularity, Ventricular... |
OMIM:606519 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Perianal abscess, Anemia, Erythroid hypoplasia, Hypoplasia of the thymus, Leukopenia, Splenomegal... |
OMIM:612541 |
| Glycogen Storage Disease Ia |
|
Delayed puberty, Xanthelasma, Hepatomegaly, Elevated circulating hepatic transaminase concentrati... |
OMIM:232200 |
| Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Retinal detachment, Optic nerve hypoplasia, Retinal telangiectasia |
OMIM:620157 |
| Avian Influenza |
|
Thrombocytopenia, Leukopenia, Lymphopenia |
ORPHA:454836 |
| Methylmalonic Aciduria, Cbla Type |
|
Pancytopenia, Thrombocytopenia, Anemia, Neutropenia |
OMIM:251100 |
| Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Optic nerve hypoplasia, Dysphagia |
ORPHA:572013 |
| Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Endocardial fibroelastosis |
OMIM:212140 |
| Leprechaunism |
|
Hyperinsulinemia, Hepatomegaly, Fasting hypoglycemia, Decreased body weight, Increased circulatin... |
ORPHA:508 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular septal hypertrophy, Muscular ventricular septal defect, Hepatomegaly, Ventricular hyp... |
OMIM:115197 |
| Mirage Syndrome |
|
Anemia, Hypoplastic spleen, Thrombocytopenia, Leukopenia, Lymphopenia |
OMIM:617053 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8 |
|
Increased mean corpuscular volume, Thrombocytopenia, Splenomegaly |
OMIM:620367 |
| Transaldolase Deficiency |
|
Anemia, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly |
OMIM:606003 |
| Microphthalmia, Syndromic 5 |
|
Microphthalmia, Retinal dystrophy, Anophthalmia, Optic nerve hypoplasia, Cleft palate |
OMIM:610125 |
| Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Optic nerve hypoplasia |
OMIM:618736 |
| Multiple Endocrine Neoplasia, Type I |
|
Glucagonoma, Increased circulating prolactin concentration, Adrenocortical adenoma, Pancreatic is... |
OMIM:131100 |
| Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome |
|
Thrombocytopenia, Hypochromic microcytic anemia |
ORPHA:3240 |
| Acquired Purpura Fulminans |
|
Thrombocytopenia |
ORPHA:49566 |
| Shwachman-Diamond Syndrome 1 |
|
Anemia, Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Thrombocytopenia, Neut... |
OMIM:260400 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Anemia, Hemophagocytosis, Thrombocytopenia, Splenomegaly, Neutropenia |
ORPHA:540 |
| Holocarboxylase Synthetase Deficiency |
|
Thrombocytopenia |
ORPHA:79242 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Cardiomegaly, Ventricular hypertrophy, Hypertrophic cardiomyopathy |
OMIM:619051 |
| Estrogen Resistance Syndrome |
|
Absence of secondary sex characteristics, Hyperinsulinemia, Abnormal circulating hormone concentr... |
ORPHA:785 |
| Glucocorticoid Deficiency 2 |
|
Abnormal circulating renin, Decreased circulating cortisol level, Recurrent hypoglycemia, Increas... |
OMIM:607398 |
| Squalene Synthase Deficiency |
|
Bicuspid aortic valve, Optic nerve hypoplasia |
OMIM:618156 |
| Blue Rubber Bleb Nevus |
|
Thrombocytopenia, Iron deficiency anemia |
OMIM:112200 |
| Wolfram Syndrome 1 |
|
Sideroblastic anemia, Megaloblastic anemia, Thrombocytopenia |
OMIM:222300 |
| Pediatric Systemic Lupus Erythematosus |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Leukopenia, Lymphopenia |
ORPHA:93552 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Anemia, Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Neutropenia |
OMIM:277380 |
| Braddock-Carey Syndrome 1 |
|
Thrombocytopenia |
OMIM:619980 |
| Nabais Sa-De Vries Syndrome, Type 1 |
|
Optic nerve hypoplasia |
OMIM:618828 |
| Adams-Oliver Syndrome |
|
Thrombocytopenia, Microphthalmia, Leukopenia |
ORPHA:974 |
| Good Syndrome |
|
Abnormal leukocyte morphology, Thrombocytopenia, Anemia |
ORPHA:169105 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Gastroesophageal reflux, Necrotizing enterocolitis, Hypertrophic cardiomyopathy, Ca... |
OMIM:201475 |
| Transcobalamin Ii Deficiency |
|
Anemia, Erythroid hypoplasia, Macrocytic anemia, Pancytopenia, Reticulocytopenia, Neutropenia |
OMIM:275350 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Hypoketotic hypo... |
ORPHA:26793 |
| Preeclampsia |
|
Thrombocytopenia |
ORPHA:275555 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Thrombocytopenia |
OMIM:617710 |
| Lig4 Syndrome |
|
Acute lymphoblastic leukemia, Thrombocytopenia, Pancytopenia |
OMIM:606593 |
| Stromme Syndrome |
|
Microphthalmia, Optic nerve hypoplasia, Intestinal malrotation, Cleft palate, Jejunal atresia, Re... |
OMIM:243605 |
| Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay |
|
Platelet anisocytosis, Increased mean platelet volume, Thrombocytopenia |
OMIM:620475 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Leukopenia, Splenomegaly, Neutropenia |
OMIM:617303 |
| Hemochromatosis, Type 1 |
|
Hepatomegaly, Hepatocellular carcinoma, Cardiomyopathy, Splenomegaly, Cardiomegaly |
OMIM:235200 |
| Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Megaloblastic anemia, Neutropenia |
OMIM:250940 |
| Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome |
|
Optic nerve hypoplasia |
OMIM:618381 |
| Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Optic nerve hypoplasia, High palate |
ORPHA:363686 |
| Shwachman-Diamond Syndrome |
|
Aplastic anemia, Normocytic anemia, Anemia, Acute myeloid leukemia, Macrocytic anemia, Pancytopen... |
ORPHA:811 |
| Necrotizing Enterocolitis |
|
Thrombocytopenia, Leukocytosis, Neutropenia |
ORPHA:391673 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Hypoglycemia, Hepatomegaly |
OMIM:229700 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased proportion of CD3-positive T cells, Decreased proportion of naive T cells, Decreased pr... |
ORPHA:276 |
| Diamond-Blackfan Anemia 11 |
|
Bone marrow hypocellularity, Anemia of inadequate production, Neutropenia |
OMIM:614900 |
| Snakebite Envenomation |
|
Thrombocytopenia |
ORPHA:449285 |
| White-Sutton Syndrome |
|
Gastroesophageal reflux, Optic nerve hypoplasia, Patent foramen ovale, High palate, Bifid uvula, ... |
OMIM:616364 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Enlarged kidney, Posteriorly placed anus, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism... |
OMIM:306955 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Microangiopathic hemolytic anemia, Thrombocytopenia, Schistocytosis, Reticulocytosis |
OMIM:274150 |
| Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
| Ivic Syndrome |
|
Thrombocytopenia, Leukocytosis |
ORPHA:2307 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Thrombocytopenia, Leukopenia, Neutropenia |
OMIM:616271 |
| Bone Marrow Failure Syndrome 3 |
|
Aplastic anemia, Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume,... |
OMIM:617052 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Thrombocytopenia, Anemia, Splenomegaly, Pancytopenia |
OMIM:259700 |
| Maternal Uniparental Disomy Of Chromosome 6 |
|
Thrombocytopenia |
ORPHA:96181 |
| Coronary Arterial Fistula |
|
Atrial septal defect, Cardiomegaly, Bacterial endocarditis, Patent foramen ovale, Aortic valve st... |
ORPHA:2041 |
| 16Q24.3 Microdeletion Syndrome |
|
Optic nerve hypoplasia, High palate, Dysphagia, Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:261250 |
| Wilson Disease |
|
Thrombocytopenia, Anemia, Splenomegaly |
ORPHA:905 |
| Mucopolysaccharidosis, Type Iiib |
|
Cardiomegaly, Hepatomegaly, Splenomegaly, Asymmetric septal hypertrophy |
OMIM:252920 |
| Onychotrichodysplasia And Neutropenia |
|
Lymphocytosis, Chronic neutropenia, Neutropenia |
OMIM:258360 |
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Thrombocytopenia |
OMIM:611126 |
| Fanconi Anemia, Complementation Group B |
|
Aplastic anemia, Thrombocytopenia, Optic disc hypoplasia |
OMIM:300514 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Microvesicular hepa... |
OMIM:617156 |
| Gaucher Disease Type 1 |
|
Anemia, Pancytopenia, Splenic infarction, Splenic rupture, Leukopenia, Splenomegaly, Hepatospleno... |
ORPHA:77259 |
| Overlap Myositis |
|
Thrombocytopenia, Leukopenia |
ORPHA:206572 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Stillbirth, Anemia, Hypochromic microcytic anemia, Pancytopenia, Leukocytosis, Hepatosplenomegaly... |
OMIM:259720 |
| Thrombocytopenia 1 |
|
Decreased mean platelet volume, Intermittent thrombocytopenia, Congenital thrombocytopenia |
OMIM:313900 |
| Mevalonic Aciduria |
|
Fluctuating splenomegaly, Anemia, Leukocytosis, Normocytic hypoplastic anemia, Hepatosplenomegaly... |
OMIM:610377 |
| Smith-Kingsmore Syndrome |
|
Thrombocytopenia |
OMIM:616638 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Thrombocytopenia, Splenomegaly, Pancytopenia |
OMIM:614576 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Abnormal atrioventricular valve morphology, Protruding tongue, Aortic valve stenosis, Mitral valv... |
ORPHA:324410 |
| Alg8-Cdg |
|
Thrombocytopenia, Anemia |
ORPHA:79325 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Microangiopathic hemolytic anemia, Thrombocytopenia, Schistocytosis, Reticulocytosis |
OMIM:235400 |
| Vexas Syndrome |
|
Thrombocytopenia, Macrocytic anemia |
OMIM:301054 |
| Aorta Coarctation |
|
Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left ventricular outflow tract m... |
ORPHA:1457 |
| Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Aplastic anemia, Bone marrow hypocellularity, Thrombocytopenia, Pancytopenia |
OMIM:224230 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Thrombocytopenia, Splenomegaly, Hemolytic anemia, Neutropenia |
OMIM:308230 |
| Developmental Delay, Hypotonia, And Impaired Language |
|
Neutropenia |
OMIM:620012 |
| Immunodeficiency 55 |
|
Absent natural killer cells, Neutropenia, Lymphopenia |
OMIM:617827 |
| Cantu Syndrome |
|
Cardiomegaly, Bicuspid aortic valve, Pericardial effusion, Congenital hypertrophy of left ventricle |
OMIM:239850 |
| Trichothiodystrophy 5, Nonphotosensitive |
|
Optic nerve hypoplasia, Retinal dystrophy |
OMIM:300953 |
| Timothy Syndrome |
|
Cardiomegaly, Patent foramen ovale, Ventricular septal defect, Tetralogy of Fallot |
OMIM:601005 |
| Holoprosencephaly |
|
Microphthalmia, Abnormality of the spleen, Anophthalmia |
ORPHA:2162 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Microphthalmia, Abnormality of the spleen, Anophthalmia |
ORPHA:2538 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
B lymphocytopenia, Rectal abscess, Neutropenia |
OMIM:601495 |
| Craniofaciofrontodigital Syndrome |
|
Gastrointestinal hemorrhage, Cardiomegaly, Gastroesophageal reflux, Abnormal heart valve morpholo... |
ORPHA:363705 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Microphthalmia, Leukemia, Anophthalmia |
ORPHA:2526 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Microphthalmia, Anemia, Accessory spleen, Severe B lymphocytopenia, Thrombocytopenia, Lymphopenia |
OMIM:620005 |
| Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Thrombocytopenia, Neutropenia |
OMIM:617941 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Hypochromic microcytic anemia, B lymphocytopenia, Sideroblastic anemia, Splenomegaly, Schistocytosis |
OMIM:616084 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Anterior pituitary hypoplasia, Hypoglycemia, Central hypothyroidism, Type I diabetes mellitus, Ab... |
OMIM:616113 |
| Pediatric-Onset Graves Disease |
|
Neutropenia in presence of anti-neutropil antibodies, Thrombocytopenia, Splenomegaly |
ORPHA:525731 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased response to growth hormone stimulation test, Decreased thyroid-stimulating hormone leve... |
ORPHA:226307 |
| Glycogen Storage Disease Ib |
|
Delayed puberty, Xanthelasma, Hepatomegaly, Elevated circulating hepatic transaminase concentrati... |
OMIM:232220 |
| Methylcobalamin Deficiency Type Cble |
|
Increased mean corpuscular volume, Pancytopenia, Macrocytic anemia, Neutropenia |
ORPHA:2169 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Optic disc hypoplasia, Gastroesophageal reflux, Optic nerve hypoplasia, Atrial septal defect, Ven... |
ORPHA:79345 |
| 19P13.13 Microdeletion Syndrome |
|
Optic atrophy, Functional abnormality of the gastrointestinal tract, Optic nerve hypoplasia, High... |
ORPHA:357001 |
| Isolated Right Ventricular Hypoplasia |
|
Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Cardiomegaly,... |
ORPHA:439 |
| Pseudo-Torch Syndrome 1 |
|
Thrombocytopenia, Splenomegaly |
OMIM:251290 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Thrombocytopenia, Anemia |
OMIM:614946 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Autoimmune thrombocytopenia, Neutropenia, Lymphopenia, T lymphocytopenia |
OMIM:607944 |
| Pseudo-Torch Syndrome 2 |
|
Thrombocytopenia |
OMIM:617397 |
| Wiskott-Aldrich Syndrome |
|
Acute leukemia, Anemia, Abnormal eosinophil morphology, Abnormal platelet function, Hypoplasia of... |
ORPHA:906 |
| Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:248450 |
| Sepsis In Premature Infants |
|
Anemia, Leukocytosis, Thrombocytopenia, Splenomegaly, Neutropenia |
ORPHA:90051 |
| Fanconi Anemia, Complementation Group D2 |
|
Microphthalmia, Anemia, Pancytopenia, Reticulocytopenia, Bone marrow hypocellularity, Thrombocyto... |
OMIM:227646 |
| Meckel Syndrome |
|
Microphthalmia, Anophthalmia, Accessory spleen, Asplenia, Aplasia/Hypoplasia of the iris |
ORPHA:564 |
| Ataxia-Telangiectasia |
|
Hypoplasia of the thymus, T lymphocytopenia, Acute lymphoblastic leukemia, Decreased proportion o... |
OMIM:208900 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Thrombocytopenia, Normochromic anemia |
OMIM:618775 |
| Chromosome 2P16.1-P15 Deletion Syndrome |
|
Optic nerve hypoplasia, High, narrow palate, High palate |
OMIM:612513 |
| D-Glyceric Aciduria |
|
Optic nerve hypoplasia, Gastroesophageal reflux |
OMIM:220120 |
| Wiskott-Aldrich Syndrome |
|
Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Decrease... |
OMIM:301000 |
| Diamond-Blackfan Anemia |
|
Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt... |
ORPHA:124 |
| Chédiak-Higashi Syndrome |
|
Anemia, Hemophagocytosis, Increased proportion of CD25+ mast cells, Pancytopenia, Abnormal natura... |
ORPHA:167 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Autoimmune thrombocytopenia, Abnormal lymphocyte morphology, Severe B lymphocytopenia |
ORPHA:293978 |
| Pearson Marrow-Pancreas Syndrome |
|
Refractory sideroblastic anemia, Anemia, Pancytopenia, Reticulocytopenia, Sideroblastic anemia, T... |
OMIM:557000 |
| Joubert Syndrome 21 |
|
Splenomegaly, Anophthalmia |
OMIM:615636 |
| Cohen Syndrome |
|
Leukopenia, Neutropenia |
OMIM:216550 |
| Barth Syndrome |
|
Cyclic neutropenia, Hypochromic microcytic anemia, Granulocytopenia, Neutropenia |
OMIM:302060 |
| Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Neutropenia |
OMIM:618253 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly |
OMIM:618838 |
| 2P15P16.1 Microdeletion Syndrome |
|
Optic atrophy, Optic nerve hypoplasia, High palate, Facial palsy, Dysphagia |
ORPHA:261349 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Decreased nerve conduction velocity, Optic nerve hypoplasia, Absent brainstem auditory responses,... |
ORPHA:101085 |
| Mogs-Cdg |
|
Optic atrophy, Hepatomegaly, High palate, Absent brainstem auditory responses, Hepatosplenomegaly... |
ORPHA:79330 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Cardiomegaly, Ventricular septal defect, Cleft palate, Hypertrophic cardiomyopathy |
OMIM:616897 |
| Acute Generalized Exanthematous Pustulosis |
|
Eosinophilia, Neutrophilia, Leukocytosis, Neutropenia |
ORPHA:293173 |
| Immunodeficiency 23 |
|
Lymphopenia, Eosinophilia, Abscess, Hemolytic anemia, Neutropenia |
OMIM:615816 |
| Ciliary Dyskinesia, Primary, 53 |
|
Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Common at... |
OMIM:620642 |
| Vici Syndrome |
|
T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Leukopenia, Lymphopenia, ... |
OMIM:242840 |
| Autosomal Agammaglobulinemia |
|
Neutropenia |
ORPHA:33110 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Optic nerve hypoplasia, Microphthalmia |
OMIM:617914 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Decreased proportion of naive T cells, Coombs-positive hemolytic anemia, T... |
ORPHA:83471 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Peripheral axonal neuropathy, Cardiomyopathy, Abnormal autonomic nervous system physiology, Ortho... |
OMIM:105210 |
| Agammaglobulinemia, X-Linked |
|
B lymphocytopenia, Neutropenia, Anemia, T lymphocytopenia |
OMIM:300755 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
High, narrow palate, Intestinal pseudo-obstruction, Optic nerve hypoplasia, Macroglossia, Exagger... |
ORPHA:453504 |
| Cartilage-Hair Hypoplasia |
|
Impaired lymphocyte transformation with phytohemagglutinin, Anemia, Macrocytic anemia, Lymphopeni... |
OMIM:250250 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
High, narrow palate, Intestinal pseudo-obstruction, Optic nerve hypoplasia, Macroglossia, Exagger... |
ORPHA:352665 |
| Aniridia 1 |
|
Aniridia, Optic nerve hypoplasia, Hypoplasia of the iris, Chorioretinal hypopigmentation, Hypopla... |
OMIM:106210 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Autoimmune hemolytic anemia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibod... |
ORPHA:391487 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Optic atrophy, Cardiomyopathy, Cardiomegaly |
OMIM:619259 |
| Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Neonatal alloimmune thrombocytopenia |
ORPHA:853 |
| Beck-Fahrner Syndrome |
|
Cardiomegaly, Ventricular septal defect, High palate |
OMIM:618798 |
| Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies |
|
Anemia, Pancytopenia, Thrombocytopenia, Leukopenia, Lymphopenia |
OMIM:620654 |
| Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Optic nerve hypoplasia, High palate, Optic disc pallor, Retinal coloboma |
OMIM:300749 |
| Recon Progeroid Syndrome |
|
Thrombocytopenia, Anemia |
OMIM:620370 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Microcytic anemia, T lymphocytopenia |
ORPHA:2959 |
| Sandhoff Disease |
|
Hepatomegaly, Orthostatic hypotension, Hepatosplenomegaly, Cherry red spot of the macula, Cardiom... |
OMIM:268800 |
| Catastrophic Antiphospholipid Syndrome |
|
Thrombocytopenia, Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia |
ORPHA:464343 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Thrombocytopenia, Giant platelets, Anemia |
OMIM:611209 |
| Rabson-Mendenhall Syndrome |
|
Increased circulating androgen concentration, Increased serum testosterone level, Fasting hypogly... |
ORPHA:769 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Lymphocytosis, Thrombocytopenia, Decreased mean platelet volume |
OMIM:617718 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Microphthalmia, Perimembranous ventricular septal defect, Atrioventricular canal defect, Optic ne... |
ORPHA:508498 |
| Lujo Hemorrhagic Fever |
|
Thrombocytopenia, Leukopenia, Leukocytosis, Lymphopenia |
ORPHA:319213 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:615877 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Optic atrophy, Microphthalmia, Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia, Ret... |
OMIM:236670 |
| Holocarboxylase Synthetase Deficiency |
|
Thrombocytopenia |
OMIM:253270 |
| Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic valve calcificati... |
OMIM:231005 |
| Gaucher Disease, Perinatal Lethal |
|
Anemia, Neonatal death, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly |
OMIM:608013 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Optic nerve hypoplasia, Patent foramen ovale, High palate, Hypertrophic cardiomyopathy, Pulmonic ... |
OMIM:617506 |
| Tyrosinemia, Type I |
|
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular ... |
OMIM:276700 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Optic nerve hypoplasia, High palate, Abnormal autonomic nervous system physiology |
ORPHA:300570 |
| Idiopathic Pulmonary Hemosiderosis |
|
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly |
ORPHA:99931 |
| Vacterl With Hydrocephalus |
|
Microphthalmia, Anophthalmia |
ORPHA:3412 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Thrombocytopenia |
ORPHA:99901 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Cardiomegaly, Hepatomegaly, Cardiomyopathy, Left ventricular hypertrophy |
OMIM:617713 |
| Aicardi-Goutieres Syndrome 1 |
|
Thrombocytopenia, Splenomegaly |
OMIM:225750 |
| Rhombencephalosynapsis |
|
Aganglionic megacolon, Esophageal atresia, Anal atresia, Tracheoesophageal fistula, Septo-optic d... |
ORPHA:59315 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Thrombocytopenia |
OMIM:208085 |
| Atelis Syndrome 2 |
|
Thrombocytopenia, Microphthalmia, Anemia |
OMIM:620185 |
| Noonan Syndrome 4 |
|
Thrombocytopenia |
OMIM:610733 |
| Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Aniridia, Anophthalmia |
ORPHA:1101 |
| Keppen-Lubinsky Syndrome |
|
Generalized lipodystrophy, Decreased serum leptin, Lack of facial subcutaneous fat, Absence of su... |
OMIM:614098 |
| Prader-Willi Syndrome |
|
Hypertriglyceridemia, Delayed puberty, Decreased response to growth hormone stimulation test, Hyp... |
OMIM:176270 |
| Phace Syndrome |
|
Microphthalmia, Retinal vascular malformation, Optic nerve hypoplasia, Abnormal heart morphology,... |
ORPHA:42775 |
| Rabin-Pappas Syndrome |
|
Retinal detachment, Optic nerve hypoplasia, Retinal telangiectasia |
OMIM:620155 |
| Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, B lymphocytopenia, Thrombocytopenia, T lymphocytopenia |
OMIM:251260 |
| Retinitis Pigmentosa |
|
Obesity, Hyperinsulinemia, Type II diabetes mellitus, Hypogonadism |
ORPHA:791 |
| Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
Optic nerve hypoplasia, Anal stenosis, Dysphagia, Gastroesophageal reflux |
OMIM:620029 |
| Glycogen Storage Disease Ic |
|
Delayed puberty, Xanthelasma, Hepatomegaly, Chronic pancreatitis, Hepatocellular carcinoma, Hyper... |
OMIM:232240 |
| Diamond-Blackfan Anemia 21 |
|
Thrombocytopenia, Anemia, Erythroid hypoplasia |
OMIM:620072 |
| Aspergillosis |
|
Eosinophilia, Neutropenia |
ORPHA:1163 |
| Intellectual Developmental Disorder, Autosomal Recessive 2 |
|
Attention deficit hyperactivity disorder |
OMIM:607417 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Bone marrow hypocellularity, Infection associated neutropenia, Neutropenia |
ORPHA:445038 |
| Lysinuric Protein Intolerance |
|
Anemia, Hemophagocytosis, Thrombocytopenia, Leukopenia, Splenomegaly |
OMIM:222700 |
| Diamond-Blackfan Anemia 7 |
|
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia |
OMIM:612562 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Leukocytosis, Reticulocytosis, Thrombocytopenia, Microangiopathic hemolytic anemia, Schistocytosis |
ORPHA:90038 |
| Gaucher Disease, Type Ii |
|
Thrombocytopenia, Anemia, Splenomegaly |
OMIM:230900 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
B lymphocytopenia, Optic nerve hypoplasia, Decreased proportion of CD4-positive helper T cells, R... |
ORPHA:221139 |
| Ivic Syndrome |
|
Thrombocytopenia, Leukocytosis |
OMIM:147750 |
| Nestor-Guillermo Progeria Syndrome |
|
Lipoatrophy, Failure to thrive, Decreased serum leptin, Flexion contracture |
OMIM:614008 |
| Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Thrombocytopenia, Leukopenia, Splenomegaly |
OMIM:300972 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Decreased proportion of CD8-positive T cells, T lymphocytopenia, Decreased proportion of CD4-posi... |
ORPHA:508533 |
| Hellp Syndrome |
|
Decreased mean corpuscular hemoglobin concentration, Thrombocytopenia, Hemolytic anemia, Microang... |
ORPHA:244242 |
| Bernard-Soulier Syndrome |
|
Macrothrombocytopenia, Giant platelets, Decreased platelet glycoprotein Ib-IX-V, Impaired ristoce... |
ORPHA:274 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Microphthalmia, Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia, Remnants of the hy... |
OMIM:614643 |
| Cerebrooculonasal Syndrome |
|
Optic nerve hypoplasia, Anophthalmia |
OMIM:605627 |
| Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Optic nerve hypoplasia |
OMIM:617864 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Cardiomegaly, Brachial plexus neuropathy, Dysphagia, Right ventricular hypertrophy |
ORPHA:268 |
| Kaposiform Lymphangiomatosis |
|
Anemia, Abnormal spleen morphology, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly |
ORPHA:464329 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Cardiomegaly, Right atrial enlargement |
OMIM:614473 |
| Poikiloderma With Neutropenia |
|
Leukopenia, Splenomegaly, Neutropenia |
OMIM:604173 |
| Lethal Congenital Contracture Syndrome 10 |
|
Narrow palate, High palate, Cardiomegaly, Overriding aorta, Ventricular septal defect, Macroglossia |
OMIM:617022 |
| Cirrhotic Cardiomyopathy |
|
Left atrial enlargement, Hepatomegaly, Right atrial enlargement, Left ventricular hypertrophy, Ca... |
ORPHA:57777 |
| Marshall-Smith Syndrome |
|
Optic nerve hypoplasia, Glossoptosis, High palate, Dysplastic aortic valve, Pyloric stenosis, Atr... |
OMIM:602535 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Hepatocellular carcinoma, Cardiomyopathy, Splenomegaly, Cholangiocarcinoma, Cardiom... |
ORPHA:465508 |
| Shigellosis |
|
Splenic abscess, Leukocytosis, Thrombocytopenia, Microangiopathic hemolytic anemia, Abscess |
ORPHA:810 |
| Bacterial Toxic-Shock Syndrome |
|
Thrombocytopenia, Increased circulating metamyelocyte count, Increased circulating myelocyte coun... |
ORPHA:36234 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2250 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Thrombocytopenia, Normochromic anemia |
OMIM:254900 |
| Neuroblastoma |
|
Thrombocytopenia, Anemia |
ORPHA:635 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Thrombocytopenia, Anemia |
OMIM:619743 |
| Fructose Intolerance, Hereditary |
|
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Glyco... |
OMIM:229600 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
| Castleman Disease |
|
Thrombocytopenia, Anemia, Decreased mean corpuscular volume |
ORPHA:160 |
| Wolcott-Rallison Syndrome |
|
Lymphocytosis, Iron deficiency anemia, Neutropenia |
ORPHA:1667 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Aplasia of the thymus, Abnormal B cell morphology, T lymphocytopenia |
OMIM:618223 |
| Toxic Epidermal Necrolysis |
|
Thrombocytopenia, Anemia, Neutropenia |
ORPHA:537 |
| Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Thrombocytopenia |
OMIM:612394 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Buphthalmos, Neutropenia |
OMIM:618005 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Thrombocytopenia |
ORPHA:457351 |
| Takenouchi-Kosaki Syndrome |
|
Increased mean platelet volume, Thrombocytopenia |
OMIM:616737 |
| Caroli Syndrome |
|
Liver abscess, Leukocytosis, Thrombocytopenia, Leukopenia, Hypersplenism |
ORPHA:480520 |
| Mucopolysaccharidosis Type 3 |
|
Optic atrophy, Abnormal aortic valve morphology, Hepatomegaly, Abnormal mitral valve morphology, ... |
ORPHA:581 |
| Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Microcytic anemia, Neutropenia |
OMIM:251900 |
| Diamond-Blackfan Anemia 1 |
|
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:105650 |
| Lathosterolosis |
|
Anisopoikilocytosis, Thrombocytopenia, Abnormal platelet morphology |
ORPHA:46059 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Megaloblastic anemia, Neutropenia |
ORPHA:79284 |
| Complete Atrioventricular Septal Defect |
|
Displacement of the papillary muscles, Hepatomegaly, Primum atrial septal defect, Right ventricul... |
ORPHA:1329 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Neutropenia |
OMIM:209920 |
| Congenital Tracheomalacia |
|
Esophageal atresia, Gastroesophageal reflux, Tracheoesophageal fistula, Abnormal heart morphology... |
ORPHA:95430 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Abnormal heart valve morphology, Optic nerve hypoplasia, Aortic valve stenosis, Pulmonic stenosis... |
ORPHA:536471 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Abnormal T cell count, Absent circulating B cells |
OMIM:307200 |
| Farber Disease |
|
Thrombocytopenia, Hepatosplenomegaly, Anemia |
ORPHA:333 |
| 21Q22.11Q22.12 Microdeletion Syndrome |
|
Thrombocytopenia, Anemia |
ORPHA:261323 |
| Sickle Cell Disease |
|
Retinopathy, Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:603903 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Leukopenia, Hepatosplenomegaly |
ORPHA:505248 |
| Danon Disease |
|
Myocardial necrosis, Hypertrophic cardiomyopathy, Myocardial fibrosis, Cardiomegaly, Dilated card... |
OMIM:300257 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Thrombocytopenia |
ORPHA:3320 |
| Double Outlet Left Ventricle |
|
Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicuspid pulmonary valv... |
ORPHA:3427 |
| Stevens-Johnson Syndrome |
|
Thrombocytopenia, Abnormality of neutrophils, Anemia |
ORPHA:36426 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Congenital Syphilis |
|
Thrombocytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia |
ORPHA:499009 |
| Alport Syndrome 1, X-Linked |
|
Thrombocytopenia |
OMIM:301050 |
| Hermansky-Pudlak Syndrome 10 |
|
Splenomegaly, Neutropenia |
OMIM:617050 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Thrombocytopenia |
ORPHA:572798 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Insulin resistance, Hypoglycemia, Hyperinsulinemia |
ORPHA:230 |
| Down Syndrome |
|
Leukemia, Polycythemia, Neutrophilia, Thrombocytopenia, Acute megakaryocytic leukemia |
ORPHA:870 |
| Immunodeficiency 87 And Autoimmunity |
|
Autoimmune hemolytic anemia, Thrombocytopenia, Lymphopenia, Decreased proportion of CD4-positive ... |
OMIM:619573 |
| Woodhouse-Sakati Syndrome |
|
Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Hyperli... |
ORPHA:3464 |
| Asparagine Synthetase Deficiency |
|
Optic nerve hypoplasia, Gastroesophageal reflux |
OMIM:615574 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Bilateral microphthalmos, Optic nerve hypoplasia, Attenuation of retinal blood vessels, Optic dis... |
ORPHA:468631 |
| Idiopathic Hypereosinophilic Syndrome |
|
Anemia, Myeloproliferative disorder, Leukocytosis, Neutrophilia, Hepatosplenomegaly, Splenomegaly... |
ORPHA:3260 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Megaloblastic anemia, Thrombocytopenia, Neutropenia |
OMIM:277400 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Abnormal circulating testosterone concentration, Increased urinary cortisol level, Adrenal hyperp... |
ORPHA:786 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Cardiomegaly, Hepatomegaly |
OMIM:255120 |
| Revesz Syndrome |
|
Aplastic anemia, Bone marrow hypocellularity, Macrocytic anemia, Neutropenia |
OMIM:268130 |
| Charge Syndrome |
|
Microphthalmia, Unilateral microphthalmos, Anophthalmia, Lymphopenia |
OMIM:214800 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Enlarged kidney, Cardiomyopathy, Hypertrophic cardiomyopathy, Pericardial effusion, Cardiomegaly,... |
OMIM:261740 |
| Systemic Sclerosis |
|
Myocarditis, Abnormality of the gastrointestinal tract, Gastroesophageal reflux, Gastrointestinal... |
ORPHA:90291 |
| Hydranencephaly |
|
Optic nerve hypoplasia, Chorioretinal atrophy, Dilatation of the ventricular cavity |
ORPHA:2177 |
| Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Bifid uvula, Cleft palate, Cardiomegaly, Dilated cardiomyopathy, Ventricular septal... |
OMIM:614921 |
| Naxos Disease |
|
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Abnormal h... |
OMIM:601214 |
| Alg12-Cdg |
|
B lymphocytopenia, Thrombocytopenia |
ORPHA:79324 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Narrow palate, Enlarged kidney, Hepatomegaly, High palate, Cardiomegaly, Dilated cardiomyopathy |
OMIM:608836 |
| Fusariosis |
|
Lung abscess, Brain abscess, Granuloma, Abnormality of the spleen, Lymphopenia, Neutropenia |
ORPHA:228119 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Anemia, Pancytopenia, Abnormal erythrocyte enzyme concentration or activity, Reticulocytosis, Leu... |
ORPHA:447 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Bone marrow hypocellularity, Thrombocytopenia, Anemia |
OMIM:612199 |
| Autoinflammatory Disease, Systemic, With Vasculitis |
|
Anemia, Increased B cell count, Leukocytosis, Increased T cell count, Hepatosplenomegaly, Splenom... |
OMIM:620376 |
| Q Fever |
|
Anemia, Granuloma, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly |
ORPHA:781 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2556 |
| Jacobsen Syndrome |
|
Microphthalmia, Thrombocytopenia, Macular hypoplasia |
OMIM:147791 |
| Gaucher Disease Type 3 |
|
Thrombocytopenia, Anemia, Splenomegaly, Pancytopenia |
ORPHA:77261 |
| Tick-Borne Encephalitis |
|
Thrombocytopenia, Leukopenia, Leukocytosis |
ORPHA:297 |
| Lethal Acantholytic Erosive Disorder |
|
Cardiomegaly, Cleft palate, Cardiomyopathy |
ORPHA:158687 |
| Fucosidosis |
|
Cardiomegaly, Hepatomegaly |
ORPHA:349 |
| Kikuchi-Fujimoto Disease |
|
Anemia, Lymphocytosis, Leukopenia, Splenomegaly, Thrombocytopenia, Neutropenia |
ORPHA:50918 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Autoimmune hemolytic anemia, Iron deficiency anemia, Reduced proportion of CD4-negative, CD8-nega... |
ORPHA:37042 |
| Tangier Disease |
|
Thrombocytopenia, Hepatosplenomegaly, Anemia |
ORPHA:31150 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Cardiomegaly, Macroglossia |
ORPHA:308552 |
| Congenital Erythropoietic Porphyria |
|
Reticulocytosis, Poikilocytosis, Anisocytosis, Leukopenia, Splenomegaly, Thrombocytopenia, Erythr... |
ORPHA:79277 |
| Khan-Khan-Katsanis Syndrome |
|
Buphthalmos, Neutropenia, Anemia, Lymphopenia |
OMIM:618460 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Optic atrophy, Cleft soft palate, Retinal dystrophy, Optic nerve hypoplasia, Intestinal malrotation |
OMIM:619321 |
| Brucellosis |
|
Lung abscess, Liver abscess, Anemia, Leukocytosis, Granuloma, Leukopenia, Splenomegaly, Thrombocy... |
ORPHA:1304 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Decreased hemoglobin concentration, Thrombocytopenia |
OMIM:619005 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Optic atrophy, Anal atresia, Microphthalmia, Septo-optic dysplasia |
ORPHA:3301 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Patent foramen ovale, Cleft palate, Mitral valve prolapse, Left ventricula... |
OMIM:245600 |
| Dyskeratosis Congenita |
|
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Splenomegaly, Abnormality of neutrophils |
ORPHA:1775 |
| 8Q24.3 Microdeletion Syndrome |
|
Bilateral microphthalmos, Atrioventricular canal defect, Gastrointestinal hemorrhage, Gastroesoph... |
ORPHA:508488 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Anemia, Pancytopenia, Bone marrow hypocellularity, Elliptocytosis, Thrombocytopenia, Leukopenia |
ORPHA:2785 |
| Histiocytoid Cardiomyopathy |
|
Optic atrophy, Microphthalmia, Hepatomegaly, Congenital aphakia, Cleft palate, Cardiomegaly, Vent... |
ORPHA:137675 |
| Dubowitz Syndrome |
|
Thrombocytopenia, Acute lymphoblastic leukemia, Abnormality of neutrophils, Anemia |
ORPHA:235 |
| Neuroleptic Malignant Syndrome |
|
Thrombocytosis, Thrombocytopenia, Leukocytosis |
ORPHA:94093 |
| Cantú Syndrome |
|
Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy |
ORPHA:1517 |
| Porphyria, Congenital Erythropoietic |
|
Hemolytic anemia, Thrombocytopenia, Splenomegaly, Reduced erythrocyte uroporphyrinogen III cosynt... |
OMIM:263700 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Cardiomegaly, Partial atrioventricular canal defect, Secundum atrial septal defect, Bicuspid aort... |
OMIM:620066 |
| Saul-Wilson Syndrome |
|
Neutropenia |
OMIM:618150 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Megaloblastic anemia, Thrombocytopenia, Neutropenia |
ORPHA:79282 |
| Rift Valley Fever |
|
Thrombocytopenia, Anemia |
ORPHA:319251 |
| Dyskeratosis Congenita, X-Linked |
|
Anemia, Acute myeloid leukemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Leuk... |
OMIM:305000 |
| Charge Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:138 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Fatigable weakness of respiratory muscles, Hepatomegaly, Hypertrophic cardiomyopathy, Dysphagia, ... |
ORPHA:365 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
High, narrow palate, Hepatomegaly, Cardiomyopathy, Abnormal myocardium morphology, Cardiomegaly |
ORPHA:228308 |
| Holoprosencephaly 9 |
|
Optic nerve hypoplasia, Microphthalmia, Anophthalmia |
OMIM:610829 |
| Whim Syndrome |
|
Neutropenia, Abnormal neutrophil morphology, Lymphopenia |
ORPHA:51636 |
| Proboscis Lateralis |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, High palate, Chorioretinal coloboma, Optic ... |
ORPHA:141099 |
| Abetalipoproteinemia |
|
Steatorrhea, Hepatomegaly, Abnormality of retinal pigmentation, Fat malabsorption, Cardiomegaly, ... |
ORPHA:14 |
| Craniosynostosis 4 |
|
Optic nerve hypoplasia |
OMIM:600775 |
| Primary Sjögren Syndrome |
|
Normocytic anemia, Normochromic anemia, Decreased proportion of CD4-positive helper T cells, Leuk... |
ORPHA:289390 |
| Pearson Syndrome |
|
Anemia, Pancytopenia, Reticulocytosis, Bone marrow hypocellularity, Hypoplastic spleen, Thrombocy... |
ORPHA:699 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Cholestatic liver disease, Delayed puberty, Cirrhosis, Hyperinsulinemia, Elevated circulating hep... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Cholestatic liver disease, Delayed puberty, Cirrhosis, Hyperinsulinemia, Elevated circulating hep... |
ORPHA:99228 |
| Monosomy X |
|
Cholestatic liver disease, Delayed puberty, Cirrhosis, Hyperinsulinemia, Elevated circulating hep... |
ORPHA:99226 |
| Turner Syndrome |
|
Cholestatic liver disease, Delayed puberty, Cirrhosis, Hyperinsulinemia, Elevated circulating hep... |
ORPHA:881 |
| Fraser Syndrome 1 |
|
Bilateral microphthalmos, Anophthalmia |
OMIM:219000 |
| Cohen Syndrome |
|
Microphthalmia, Neutropenia |
ORPHA:193 |
| Baller-Gerold Syndrome |
|
Optic atrophy, Rectovaginal fistula, Optic nerve hypoplasia, Perineal fistula, High palate, Anal ... |
OMIM:218600 |
| Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Thrombocytopenia |
OMIM:620423 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Anemia, B lymphocytopenia, Decreased proportion of naive T cells, T lymphocytopenia, Splenomegaly... |
OMIM:619381 |
| Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Neutropenia |
OMIM:615471 |
| Microphthalmia, Syndromic 2 |
|
Microphthalmia, Anophthalmia |
OMIM:300166 |
| Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Optic nerve hypoplasia, Aortopulmonary window, Ventricular septal defect, Hepatomegaly |
OMIM:620025 |
| Interatrial Communication |
|
Atrial septal defect, Sinus venosus atrial septal defect, Primum atrial septal defect, Secundum a... |
ORPHA:1478 |
| Fucosidosis |
|
Hepatomegaly, Splenomegaly, Cherry red spot of the macula, Cardiomegaly, Macroglossia |
OMIM:230000 |
| Focal Dermal Hypoplasia |
|
Microphthalmia, Aniridia, Anophthalmia |
OMIM:305600 |
| Systemic Lupus Erythematosus |
|
Thrombocytopenia, Leukopenia, Hemolytic anemia |
ORPHA:536 |
| Developmental And Epileptic Encephalopathy 95 |
|
Cardiomegaly, Hepatomegaly, Macroglossia |
OMIM:618143 |
| Aicardi-Goutieres Syndrome 7 |
|
Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hemolytic anemia |
OMIM:615846 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Pulmonic stenosis, Hepatosplenomegaly, Splenomegaly, Mitral valve prolapse, Cardiom... |
OMIM:602782 |
| Fanconi Anemia |
|
Microphthalmia, Anemia, Thrombocytopenia, Leukopenia, Aplasia/Hypoplasia of the iris, Pyridoxine-... |
ORPHA:84 |
| Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Acute leukemia, Thrombocytopenia, Hemolytic anemia |
ORPHA:647 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Thrombocytopenia, Splenomegaly |
OMIM:301072 |
| Marburg Hemorrhagic Fever |
|
Neutrophilia in presence of infection, Abnormal lymphocyte morphology, Reticulocytosis, Leukopeni... |
ORPHA:99826 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Cardiomegaly, High palate |
ORPHA:2463 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Thrombocytopenia |
ORPHA:464321 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:208000 |
| Bohring-Opitz Syndrome |
|
Optic atrophy, Retinal atrophy, Cleft palate, Cardiomegaly, Abnormal cardiac septum morphology |
ORPHA:97297 |
| Congenital Fibrosis Of Extraocular Muscles |
|
Optic nerve hypoplasia |
ORPHA:45358 |
| Glycogen Storage Disease Ii |
|
Cardiomegaly, Hepatomegaly, Splenomegaly, Macroglossia |
OMIM:232300 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Thrombocytopenia, Leukocytosis, Hemolytic anemia, Brain abscess |
ORPHA:544482 |
| Hutchinson-Gilford Progeria Syndrome |
|
Severe failure to thrive, Pubertal developmental failure in females, Decreased serum leptin, Dela... |
ORPHA:740 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
High, narrow palate, Gastroesophageal reflux, Patent foramen ovale, Ventricular septal defect, Le... |
OMIM:300967 |
| Steinert Myotonic Dystrophy |
|
Non-medullary thyroid carcinoma, Abnormality of thyroid physiology, Hyperinsulinemia, Elevated ci... |
ORPHA:273 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Cardiomegaly |
OMIM:620306 |
| Microphthalmia With Limb Anomalies |
|
Microphthalmia, True anophthalmia |
ORPHA:1106 |
| Liver Disease, Severe Congenital |
|
Elevated circulating hepatic transaminase concentration, Biliary hyperplasia, Splenomegaly, Umbil... |
OMIM:619991 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Optic atrophy, Gastroesophageal reflux, Optic nerve hypoplasia, Abnormal heart morphology, Bifid ... |
ORPHA:500150 |
| Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Narrow palate, Retinal arterial tortuosity, Cardiomegaly, Retinal detachment, Patent foramen oval... |
OMIM:620371 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Anemia, Leukocytosis, Thrombocytopenia, Hepatosplenomegaly, Eosinophilia |
OMIM:274000 |
| Trichothiodystrophy |
|
Bilateral microphthalmos, Increased mean corpuscular hemoglobin concentration, Anemia, Neutropenia |
ORPHA:33364 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Thrombocytopenia, Anemia |
ORPHA:163979 |
| Absence Of The Pulmonary Artery |
|
Patent foramen ovale, Truncus arteriosus, Abnormal heart morphology, Tetralogy of Fallot, Cardiom... |
ORPHA:980 |
| Roberts Syndrome |
|
Microphthalmia, Thrombocytopenia |
ORPHA:3103 |
| Deeah Syndrome |
|
Decreased hemoglobin concentration, Thrombocytopenia |
OMIM:619004 |
| Lysinuric Protein Intolerance |
|
Anemia, Hemophagocytosis, Thrombocytopenia, Leukopenia, Hepatosplenomegaly |
ORPHA:470 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Increased mean platelet volume, Thrombocytopenia |
ORPHA:487796 |
| Gaucher Disease |
|
Anemia, Pancytopenia, Splenic infarction, Splenic rupture, Leukopenia, Splenomegaly, Thrombocytop... |
ORPHA:355 |
| Fraser Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2052 |
| Truncus Arteriosus |
|
Transposition of the great arteries, Abnormal heart valve morphology, Truncus arteriosus, Pulmoni... |
ORPHA:3384 |
| Hemorrhagic Fever-Renal Syndrome |
|
Thrombocytopenia, Anemia, Leukocytosis |
ORPHA:340 |
| Cartilage-Hair Hypoplasia |
|
Aplasia/Hypoplasia affecting the eye, Anemia, Neutropenia |
ORPHA:175 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
B lymphocytopenia, Severe B lymphocytopenia |
ORPHA:83617 |
| Cornelia De Lange Syndrome 1 |
|
Thrombocytopenia |
OMIM:122470 |
| Mucolipidosis Ii Alpha/Beta |
|
Enlarged kidney, Hepatomegaly, Hypertrophic cardiomyopathy, Splenomegaly, Cardiomegaly, Macroglossia |
OMIM:252500 |
| Leigh Syndrome |
|
Anemia, Neutropenia |
ORPHA:506 |
| Acromelic Frontonasal Dysostosis |
|
Optic nerve hypoplasia, Cleft palate, Submucous cleft soft palate, Remnants of the hyaloid vascul... |
OMIM:603671 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, High palate, Cardiomegaly, Macroglossia |
ORPHA:96191 |
| Crimean-Congo Hemorrhagic Fever |
|
Pancytopenia, Leukocytosis, Neutrophilia, Leukopenia, Splenomegaly, Thrombocytopenia |
ORPHA:99827 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Anemia, Pancytopenia, Hepatosplenomegaly, Abnormality of the spleen, Splenomegaly, Thrombocytopenia |
ORPHA:2072 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Atrial septal dilatation, Right atrial enlargement, Right ventricular hypertrophy, ... |
ORPHA:1677 |
| Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures |
|
Optic nerve hypoplasia, Secundum atrial septal defect, Dysphagia |
OMIM:620455 |
| Rothmund-Thomson Syndrome |
|
Aplastic anemia, Anemia, Leukemia, Neutropenia |
ORPHA:2909 |
| Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Optic nerve hypoplasia, Anteriorly placed anus, Gastroesophageal reflux |
ORPHA:495875 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Narrow palate, Intestinal polyposis, Abnormal optic nerve morphology, Hamartomatous polyposis, Ab... |
ORPHA:109 |
| Hermansky-Pudlak Syndrome |
|
Abnormality of thrombocytes, Neutropenia |
ORPHA:79430 |
| Ogden Syndrome |
|
Left atrial enlargement, Narrow palate, Perimembranous ventricular septal defect, Enlarged kidney... |
OMIM:300855 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Buphthalmos, Thrombocytopenia, Microphthalmia, Anemia |
ORPHA:534 |
| Wilson Disease |
|
Thrombocytopenia, Anemia, Splenomegaly, Hemolytic anemia |
OMIM:277900 |
| Alström Syndrome |
|
Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Precocious puberty... |
ORPHA:64 |
| Rothmund-Thomson Syndrome Type 1 |
|
Aplastic anemia, Anemia, Leukemia, Neutropenia |
ORPHA:221008 |
| Beckwith-Wiedemann Syndrome |
|
Enlarged kidney, Hepatomegaly, Cardiomyopathy, Hepatoblastoma, Pancreatic hyperplasia, Cardiomega... |
OMIM:130650 |
| Jacobsen Syndrome |
|
Bone marrow hypocellularity, Thrombocytopenia |
ORPHA:2308 |
| Yellow Fever |
|
Neutrophilia, Thrombocytopenia, Leukocytosis |
ORPHA:99829 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, High, narrow palate, Cardiomegaly |
ORPHA:91387 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Bifid uvula, Optic nerve hypoplasia, Ventricular septal defect, High palate |
OMIM:620330 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Optic nerve hypoplasia |
ORPHA:457284 |
| Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Neutropenia |
OMIM:617799 |
| Microphthalmia, Syndromic 6 |
|
Microphthalmia, Anophthalmia |
OMIM:607932 |
| 22Q11.2 Deletion Syndrome |
|
Microphthalmia, Hypoplasia of the thymus, Thrombocytopenia, Splenomegaly, Abnormality of thromboc... |
ORPHA:567 |
| Branchiooculofacial Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:113620 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Thrombocytopenia, Anemia, Splenomegaly, Microcytic anemia |
OMIM:619525 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Neonatal death, Neutropenia |
OMIM:617248 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Acute promyelocytic leukemia, Thrombocytopenia, Splenomegaly, Autoimmune thrombocytopenia, Hypers... |
ORPHA:77293 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Cardiomegaly, Ventricular hypertrophy, Hepatosplenomegaly, Hepatomegaly |
OMIM:618278 |
| Sarcoidosis |
|
Anemia, Increased T cell count, Leukopenia, Thrombocytopenia, Eosinophilia, Hemolytic anemia |
ORPHA:797 |
| Rothmund-Thomson Syndrome Type 2 |
|
Aplastic anemia, Anemia, Leukemia, Neutropenia |
ORPHA:221016 |
| Yunis-Varon Syndrome |
|
Bilateral microphthalmos, Microphthalmia, High, narrow palate, Cardiomyopathy, Glossoptosis, Pylo... |
ORPHA:3472 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o... |
ORPHA:99125 |
| Williams Syndrome |
|
Abnormal endocardium morphology, Atrial septal defect, Rectal prolapse, Peptic ulcer, Cardiomegal... |
ORPHA:904 |
| Beckwith-Wiedemann Syndrome |
|
Enlarged kidney, Hepatomegaly, Visceromegaly, Hypertrophic cardiomyopathy, Choroideremia, Large i... |
ORPHA:116 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Neutropenia |
OMIM:271510 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Recurrent cutaneous abscess formation, Neutropenia |
ORPHA:163956 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Hypersplenism, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly |
ORPHA:731 |
| Hardikar Syndrome |
|
Hypersplenism, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly |
OMIM:301068 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Thrombocytopenia |
ORPHA:79078 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Optic nerve hypoplasia, Median cleft palate, Septo-optic dysplasia |
ORPHA:95494 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Microcytic anemia, Thrombocytopenia, Splenomegaly |
OMIM:256040 |
| Aicardi-Goutières Syndrome |
|
Neonatal alloimmune thrombocytopenia, Hepatosplenomegaly, Chronic lymphatic leukemia |
ORPHA:51 |
| Exercise-Induced Malignant Hyperthermia |
|
Thrombocytopenia |
ORPHA:466650 |
| Pmm2-Cdg |
|
Abnormal subcutaneous fat tissue distribution, Abnormal liver parenchyma morphology, Elevated cir... |
ORPHA:79318 |
| Tropical Endomyocardial Fibrosis |
|
Left atrial enlargement, Endocardial fibrosis, Right ventricular cardiomyopathy, Hepatomegaly, Re... |
ORPHA:75565 |
| Osteogenesis Imperfecta |
|
Thrombocytopenia |
ORPHA:666 |
| Acute Liver Failure |
|
Thrombocytopenia |
ORPHA:90062 |
| Zygomycosis |
|
Splenic abscess, Brain abscess, Neutropenia |
ORPHA:73263 |
| Leptospirosis |
|
Thrombocytopenia |
ORPHA:509 |
| Digeorge Syndrome |
|
Thrombocytopenia, Hypoplasia of the thymus, Anemia, Splenomegaly |
OMIM:188400 |
| Craniofacial Microsomia 1 |
|
Microphthalmia, Anophthalmia |
OMIM:164210 |
| Microphthalmia, Syndromic 1 |
|
Microphthalmia, Anophthalmia |
OMIM:309800 |
| Generalized Arterial Calcification Of Infancy |
|
Angioid streaks of the fundus, Choroidal neovascularization, Ventricular hypertrophy, Retinal hem... |
ORPHA:51608 |
| Noonan Syndrome 1 |
|
Juvenile myelomonocytic leukemia, Amegakaryocytic thrombocytopenia |
OMIM:163950 |
| Aspartylglucosaminuria |
|
Vacuolated lymphocytes, Neutropenia |
OMIM:208400 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Patent foramen ovale, Ankyloglossia, Septo-optic dysplasia |
OMIM:619841 |
| Sponastrime Dysplasia |
|
Congenital aphakia, Neutropenia |
ORPHA:93357 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Anemia, Neutropenia |
ORPHA:95455 |
| Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Aortic valve stenosis, Aortic valve calcification, Cardiomegaly, Subv... |
OMIM:182250 |
