| Lymphangiectasia, Intestinal |
|
Stillbirth, Neonatal hypoproteinemia, Intestinal lymphangiectasia, Lymphopenia |
OMIM:152800 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells,... |
OMIM:212050 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neonatal death, Neutropenia |
OMIM:257100 |
| Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Intestinal lymphangiectasia, Hypoproteinemia, Lymphopenia |
OMIM:207731 |
| Kimura Disease |
|
Follicular hyperplasia, Eosinophilia, Abnormal salivary gland morphology, Lymphadenopathy |
ORPHA:482 |
| Omenn Syndrome |
|
Anemia, Lymphadenopathy, B lymphocytopenia, Hypoproteinemia, Hypoplasia of the thymus, Severe B l... |
OMIM:603554 |
| Immunodeficiency 43 |
|
Lung abscess, B lymphocytopenia, Hypoproteinemia, Decreased circulating beta-2-microglobulin leve... |
OMIM:241600 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... |
OMIM:202700 |
| Eosinophilia, Familial |
|
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis |
OMIM:131400 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Anemia, Hemophagocytosis, Lymphade... |
OMIM:267700 |
| Immunodeficiency 88 |
|
Eosinophilia |
OMIM:619630 |
| Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Hypertriglyceridemia, Increased circulating ferritin concentration, ... |
OMIM:619802 |
| Immunodeficiency 32B |
|
Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Hypoalbuminemia, Eosinophili... |
OMIM:226990 |
| Immunodeficiency 115 With Autoinflammation |
|
Intestinal lymphangiectasia, Anemia, Elevated circulating C-reactive protein concentration, Eleva... |
OMIM:620632 |
| Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Eosinophilia, Myeloproliferative disorder |
OMIM:131440 |
| Immunodeficiency 27A |
|
Anemia, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Enlarged mesenteric lymp... |
OMIM:209950 |
| Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Hypoproteinemia, Lymphopenia |
ORPHA:1116 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Eosinophilia, Myeloproliferative disorder, Splenomegaly |
OMIM:607685 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Aplastic anemia, Hemophagocytosis, Elevated circulating C-reactive protein concentration, Pancyto... |
OMIM:308240 |
| Refractory Celiac Disease |
|
Normocytic anemia, Iron deficiency anemia, Macrocytic anemia, Hypocalcemia, Hypoproteinemia, Incr... |
ORPHA:398063 |
| Acute Myelomonocytic Leukemia |
|
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis |
ORPHA:517 |
| Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Eosinophilia, Lymphopenia |
ORPHA:2582 |
| Ichthyosis-Prematurity Syndrome |
|
Eosinophilia |
ORPHA:88621 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hypertriglyceridemia, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Hypoproteinemia, I... |
OMIM:603553 |
| Nevoid Hypermelanosis, Linear And Whorled |
|
Eosinophilia |
OMIM:614323 |
| Juvenile Temporal Arteritis |
|
Eosinophilia, Leukocytosis |
ORPHA:26137 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Increased serum bile acid concentration, Increased total bilirubin, Splenomegaly, Conjugated hype... |
OMIM:619868 |
| Primary Intestinal Lymphangiectasia |
|
Intestinal lymphangiectasia, Anemia, Decreased proportion of CD3-positive T cells, Hypocalcemia, ... |
ORPHA:90362 |
| Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Iron deficiency anemia, Neutropenia in presence of anti-neutropil an... |
OMIM:601859 |
| Cinca Syndrome |
|
Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leukocytosis, Hep... |
OMIM:607115 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Intestinal lymphangiectasia, Anemia, Iron deficiency anemia, Hypoproteinemia, Hypothyroidism, Hyp... |
OMIM:226300 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Genital ulcers, Aplasia of the thymus, B lymphocytopenia, Lymph node hypoplasia, Splenomegaly, Ly... |
OMIM:602450 |
| Autoinflammation With Infantile Enterocolitis |
|
Increased circulating ferritin concentration, Anemia, Elevated circulating C-reactive protein con... |
OMIM:616050 |
| Leishmaniasis |
|
Anemia, Lymphadenopathy, Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, ... |
ORPHA:507 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi... |
ORPHA:169154 |
| Generalized Eruptive Histiocytosis |
|
Hypereosinophilia, Histiocytosis, Leukemia |
ORPHA:157991 |
| Nephrotic Syndrome, Type 7 |
|
Hypoalbuminemia, Thrombocytopenia, Hemolytic anemia |
OMIM:615008 |
| Enterokinase Deficiency |
|
Hypoproteinemia |
OMIM:226200 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Autoimmune hemolytic anemia, Iron deficiency anemia, Lymphadenopathy, Neutropenia in presence of ... |
OMIM:603909 |
| Neutrophilia, Hereditary |
|
Neutrophilia, Splenomegaly |
OMIM:162830 |
| Macrophage Activation Syndrome |
|
Hypertriglyceridemia, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Elevated circ... |
ORPHA:158061 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Eosinophilia, Elevated circulating creatine kinase concentration |
OMIM:253600 |
| Immunodeficiency 7 |
|
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Neutropenia |
OMIM:615387 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Congenital hypothyroidism |
ORPHA:88643 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Abnormal fallopian tube morphology, Hypocalcemia, Pancreatic lymphangiectasis, Hypoproteinemia, H... |
ORPHA:1655 |
| Nephrotic Syndrome, Type 1 |
|
Hypothyroidism, Hypoalbuminemia, Hypoproteinemia, Hyperlipidemia |
OMIM:256300 |
| Eosinophilic Gastroenteritis |
|
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Eosinophilia, Hypoal... |
ORPHA:2070 |
| Johanson-Blizzard Syndrome |
|
Abnormality of the female genitalia, Anemia, Hypospadias, Hypoplasia of penis, Abnormal vagina mo... |
ORPHA:2315 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Hypothyroidism, Hepatosplenomegaly, Hypopituitarism, Hypoalbuminemia, Micro... |
OMIM:619013 |
| Dengue Fever |
|
Thrombocytopenia, Hypoproteinemia, Leukopenia |
ORPHA:99828 |
| Gastritis, Familial Giant Hypertrophic |
|
Hypoproteinemia |
OMIM:137280 |
| Ménétrier Disease |
|
Hypoalbuminemia, Hypoproteinemia, Hypochromic microcytic anemia |
ORPHA:2494 |
| Immunodeficiency 53 |
|
Neutrophilia, Impaired lymphocyte transformation with phytohemagglutinin |
OMIM:617585 |
| Nephrotic Syndrome, Type 2 |
|
Hypoalbuminemia, Hyperlipidemia |
OMIM:600995 |
| Focal Segmental Glomerulosclerosis 1 |
|
Hypoalbuminemia, Hyperlipidemia, Anemia |
OMIM:603278 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Anemia, Lymphadenopathy, Decreased FOXP3-expressing T cell count, Hypothyroidism, Type I diabetes... |
OMIM:304790 |
| Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hypoalbuminemia, Increased circulating creatine kinase MM isoform, Hypermethioninemia |
OMIM:613752 |
| Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
| Reni Syndrome |
|
Hypertriglyceridemia, Hypothyroidism, Hypogonadism, Lymphopenia, Hypoalbuminemia, Cryptorchidism,... |
OMIM:617575 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Anemia, Lymphadenopathy, Hypoproteinemia, Leukocytosis, Elevated circulating creatine kinase conc... |
OMIM:615895 |
| Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia |
OMIM:221400 |
| Immunodeficiency 24 |
|
Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell... |
OMIM:615897 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia |
OMIM:615863 |
| Omenn Syndrome |
|
Anemia, Lymphadenopathy, Thyroiditis, Abnormal lymphocyte morphology, Leukocytosis, Hypothyroidis... |
ORPHA:39041 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hypocalcemia, Hypoproteinemia, Pancreatic lymphangiectasis, Splenomegaly, Pulmonary lymphangiecta... |
OMIM:235255 |
| Diarrhea 13 |
|
Hypoalbuminemia |
OMIM:620357 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Abnormal lymph node mo... |
ORPHA:911 |
| Reticular Dysgenesis |
|
Congenital agranulocytosis, Leukopenia, Hypoplasia of the thymus, Lymphopenia |
OMIM:267500 |
| Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities |
|
Abnormally low T cell receptor excision circle level, Eosinophilia |
OMIM:618092 |
| Roifman Syndrome |
|
Eosinophilia, Hypogonadotropic hypogonadism, Hepatosplenomegaly, Lymphadenopathy |
ORPHA:353298 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Autoimmune hemolytic anemia, Abnormal natural killer cell count, Decreased proportion of CD3-posi... |
ORPHA:331206 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Anemia, Hypothyroidism, Neonatal death, Thrombocytopenia, Decreased circulating T4 concentration,... |
OMIM:608104 |
| Erythroderma, Lethal Congenital |
|
Hypoalbuminemia |
OMIM:227090 |
| Chédiak-Higashi Syndrome |
|
Hypertriglyceridemia, Anemia, Hemophagocytosis, Increased proportion of CD25+ mast cells, Pancyto... |
ORPHA:167 |
| Analbuminemia |
|
Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... |
OMIM:616000 |
| Eosinophilopenia |
|
Decreased eosinophil count |
OMIM:131430 |
| Citrullinemia Type Ii |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Hypopr... |
ORPHA:247585 |
| Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
| Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
| Coenzyme Q10 Deficiency, Primary, 3 |
|
Hypoalbuminemia |
OMIM:614652 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Aplastic anemia, Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia,... |
ORPHA:486 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Delayed puberty, Neutropenia in presence of anti-neutropil antibodie... |
OMIM:615952 |
| Immunodeficiency 11B With Atopic Dermatitis |
|
Eosinophilia |
OMIM:617638 |
| Immunodeficiency 50 |
|
Neutropenia, Lymphopenia |
OMIM:300988 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Hypertriglyceridemia, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Pancytopenia,... |
ORPHA:158048 |
| Immunodeficiency 52 |
|
Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B ... |
OMIM:617514 |
| Congenital Analbuminemia |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Increased alpha-globulin, Hypercholesterolemia |
ORPHA:86816 |
| Congenital Disorder Of Glycosylation, Type Ij |
|
Hypoproteinemia, Cryptorchidism |
OMIM:608093 |
| Nephrotic Syndrome, Type 22 |
|
Hypoproteinemia |
OMIM:619155 |
| Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Decreased proporti... |
OMIM:617237 |
| Wells Syndrome |
|
Eosinophilia |
ORPHA:901 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Hypertriglyceridemia, Anemia, Hemophagocytosis, Lymphadenopathy, Thrombocytopenia, Splenomegaly, ... |
ORPHA:540 |
| Roifman Syndrome |
|
Eosinophilia, Splenomegaly, Lymphadenopathy |
OMIM:616651 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased proportion of CD3-positive T cells, Eosinophilia, Hepatosplenomegaly, Lymphopenia |
ORPHA:169160 |
| Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr... |
OMIM:619924 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Delayed puberty, Absence of secondary sex characteristics, Ambiguous genitalia, male, Precocious ... |
ORPHA:90793 |
| Refractory Anemia With Excess Blasts |
|
Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal circulating protein ... |
ORPHA:86839 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration, Thyroiditis, ... |
OMIM:617388 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hypertriglyceridemia, Anemia, Hemophagocytosis, Lymphadenopathy, Thrombocytopenia, Splenomegaly, ... |
OMIM:603552 |
| Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Hypothyroidism, Eosinophilia, Hepatosplenomegaly |
OMIM:618999 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope... |
ORPHA:444463 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic leukemia, Chron... |
ORPHA:98849 |
| Wolcott-Rallison Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Iron deficiency anemia, Lymphocytosis, Hyperbilirub... |
ORPHA:1667 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hypoalbuminemia, Microcytic anemia |
OMIM:618805 |
| Hemochromatosis, Type 3 |
|
Anemia, Increased circulating iron concentration, Lymphopenia, Elevated transferrin saturation, I... |
OMIM:604250 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Hypereosinophilia, Leukocytosis, Elevated circulating C-reactive protein concentration |
ORPHA:2902 |
| Alg6-Cdg |
|
Hypoalbuminemia, Decreased LDL cholesterol concentration, Increased circulating androgen concentr... |
ORPHA:79320 |
| Hepatoportal Sclerosis |
|
Anemia, Hyperbilirubinemia, Thrombocytopenia, Leukopenia, Splenomegaly, Hypoalbuminemia, Hyperspl... |
ORPHA:64743 |
| Galloway-Mowat Syndrome 6 |
|
Hypothyroidism, Hypoalbuminemia, Decreased response to growth hormone stimulation test |
OMIM:618347 |
| Congenital Enterovirus Infection |
|
Anemia, Abnormal macrophage morphology, Leukocytosis, Hyperammonemia, Leukopenia, Thrombocytopeni... |
ORPHA:292 |
| Esophagitis, Eosinophilic, 1 |
|
Eosinophilia |
OMIM:610247 |
| Esophagitis, Eosinophilic, 2 |
|
Eosinophilia |
OMIM:613412 |
| Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Eosinophilia |
OMIM:618523 |
| Primary Membranoproliferative Glomerulonephritis |
|
Hypoalbuminemia |
ORPHA:54370 |
| Immunodeficiency 76 |
|
Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia |
OMIM:619164 |
| Eosinophilic Fasciitis |
|
Eosinophilia, Abnormal eosinophil morphology |
ORPHA:3165 |
| Chylomicron Retention Disease |
|
Hypoalbuminemia, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia |
OMIM:246700 |
| Hyperaldosteronism, Familial, Type I |
|
Adrenal hyperplasia, Decreased circulating renin level, Adrenogenital syndrome, Hyperaldosteronism |
OMIM:103900 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Liver abscess, Anemia, Abnormal lymph node morphology, Elevated circulating C-reactive protein co... |
ORPHA:54251 |
| Eosinophil Peroxidase Deficiency |
|
Eosinophil nuclear hypersegmentation |
OMIM:261500 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased pr... |
OMIM:619846 |
| Congenital Lethal Erythroderma |
|
Hypoalbuminemia |
ORPHA:1954 |
| Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Eosinophilia, T lymphocytopenia |
OMIM:610163 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Anemia, Increased mean corpuscular volume, Sideroblastic anemia, Thrombocytopenia, Hypoalbuminemi... |
OMIM:617021 |
| Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Hypoparathyroidism, Macrocytic anemia, Hyperuricemia, Decreased circulating AC... |
ORPHA:199299 |
| Specific Granule Deficiency 1 |
|
Abnormal neutrophil count, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bactericida... |
OMIM:245480 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Increased circulating androstenedione concentration, Ambiguous genitalia, male, Clitoral hypertro... |
ORPHA:90791 |
| Pgm3-Cdg |
|
Decreased proportion of CD3-positive T cells, Neutropenia in presence of anti-neutropil antibodie... |
ORPHA:443811 |
| Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Increased circulating ACTH level, Ambiguous genitalia, Congenital adrenal hyperplasia |
OMIM:613571 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Autoimmune hemolytic anemia, Iron deficiency anemia, Lymphadenopathy, Reduced proportion of CD4-n... |
ORPHA:37042 |
| Cyclic Neutropenia |
|
Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Lymphopenia, Tooth abscess, Thrombocyto... |
ORPHA:2686 |
| Galloway-Mowat Syndrome 8 |
|
Hypoalbuminemia |
OMIM:618349 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hypoalbuminemia, Abnormal circulating polysaccharide concentration, Abnormal circulating protein ... |
ORPHA:103910 |
| Fibronectin Glomerulopathy |
|
Hypoalbuminemia |
ORPHA:84090 |
| Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyperkalemia, Premature pubarche, Penoscrotal hypospadias, Hypospadias, Perineal hypospadias, Inc... |
OMIM:201810 |
| Immunodeficiency 21 |
|
Aplastic anemia, Cervical intraepithelial neoplasia, Anemia, Neutropenia, B lymphocytopenia, Lymp... |
OMIM:614172 |
| Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections |
|
Eosinophilia |
OMIM:620532 |
| Cystic Echinococcosis |
|
Splenic cyst, Hyperbilirubinemia, Peritoneal abscess, Abnormality of the testis size, Ovarian cys... |
ORPHA:400 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Increased circulating androstenedione concentration, Precocious puberty in males, Clitoral hypert... |
OMIM:202010 |
| Burkitt Lymphoma |
|
Abnormal lymph node morphology, Hyperuricemia, Abnormality of the ovary, Decreased proportion of ... |
ORPHA:543 |
| Acute Generalized Exanthematous Pustulosis |
|
Lymphadenopathy, Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia |
ORPHA:293173 |
| Avian Influenza |
|
Elevated circulating C-reactive protein concentration, Elevated circulating creatine kinase conce... |
ORPHA:454836 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypocalcemia, Hypoproteinemia, Elevated circulating creatine kinase concentration, Hyperammonemia... |
ORPHA:26793 |
| Lipoid Congenital Adrenal Hyperplasia |
|
Hypospadias, Adrenogenital syndrome, Congenital adrenal hyperplasia |
OMIM:201710 |
| Generalized Pustular Psoriasis |
|
Elevated circulating C-reactive protein concentration, Hypocalcemia, Leukocytosis, Hyponatremia, ... |
ORPHA:247353 |
| 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, Adren... |
OMIM:102700 |
| Pancreatic insufficiency, combined exocrine |
|
Hypoproteinemia |
OMIM:260450 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... |
ORPHA:247598 |
| Amed Syndrome, Digenic |
|
Anemia, Acute myeloid leukemia, Adrenal hypoplasia, Bone marrow hypocellularity, Thrombocytopenia... |
OMIM:619151 |
| Peeling Skin Syndrome 1 |
|
Eosinophilia |
OMIM:270300 |
| Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocytopenia, Monocyt... |
OMIM:614470 |
| Amegakaryocytic Thrombocytopenia, Congenital, 2 |
|
Aplastic anemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Elevated ci... |
OMIM:620481 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Lymphocytosis, Eosinophilia, Thyroiditis, Lymphadenopathy |
ORPHA:139402 |
| Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Hypoalbuminemia, Hypocholesterolemia, Splenomegaly |
OMIM:608776 |
| Autoimmune Lymphoproliferative Syndrome |
|
Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity, Splenomegaly, Lymphopenia, Thyroid c... |
ORPHA:3261 |
| Igg4-Related Aortitis |
|
Hypereosinophilia, Elevated circulating C-reactive protein concentration |
ORPHA:449400 |
| Insulin-Resistance Syndrome Type B |
|
Abnormal circulating lipid concentration, Hyperinsulinemia, Abnormal salivary gland morphology, I... |
ORPHA:2298 |
| Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Abnormal lymphocyte count, Abnormal B cell count, L... |
OMIM:615615 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Leukopenia, Splenomegaly, Hypoalbuminemia,... |
OMIM:617303 |
| Alg1-Cdg |
|
Hypoalbuminemia |
ORPHA:79327 |
| Mpi-Cdg |
|
Hypothyroidism, Hypoalbuminemia, Hyperinsulinemic hypoglycemia |
ORPHA:79319 |
| Lymphatic Filariasis |
|
Lymphangiectasis, Lymphadenopathy, Abnormality of the lymphatic system, Lymphadenitis, Abnormal s... |
ORPHA:2035 |
| Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Eosinophilia, Cutaneous abscess, Sterile abscess |
OMIM:618282 |
| O'Sullivan-Mcleod Syndrome |
|
Eosinophilia |
ORPHA:99965 |
| Idiopathic Acute Eosinophilic Pneumonia |
|
Abnormal eosinophil morphology |
ORPHA:724 |
| 46,Xy Sex Reversal 11 |
|
Decreased cirrculating antimullerian hormone circulation, Gonadal dysgenesis with female appearan... |
OMIM:273250 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Hypoalbuminemia, Lymphangiectasis, Hyperinsulinemic hypoglycemia |
OMIM:602579 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Increased total bilirubin, Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia |
OMIM:618528 |
| Hereditary Folate Malabsorption |
|
Eosinophilia, Megaloblastic anemia, Thrombocytopenia, Pancytopenia |
ORPHA:90045 |
| Familial Hyperaldosteronism Type Ii |
|
Hypokalemia, Abnormal circulating renin, Secretory adrenocortical adenoma, Adrenal hyperplasia, G... |
ORPHA:404 |
| Familial Hyperaldosteronism Type I |
|
Dexamethasone-suppressible primary hyperaldosteronism, Hypokalemia, Abnormal circulating renin, S... |
ORPHA:403 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Lung abscess, Liver abscess, Anemia, Leukocytosis, Hypoalbuminemia |
ORPHA:67 |
| Immunodeficiency 23 |
|
Lymphopenia, Eosinophilia, Abscess, Hemolytic anemia, Neutropenia |
OMIM:615816 |
| Ataxia-Oculomotor Apraxia 4 |
|
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
| Aspergillosis |
|
Eosinophilia, Neutropenia |
ORPHA:1163 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Pancytopenia, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Leukopenia, Hepatosplenomegaly... |
OMIM:618986 |
| Acute Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia, Hemolytic anemia |
ORPHA:529799 |
| Chronic Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia, Hemolytic anemia |
ORPHA:529808 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Plasmacytosis, Lymphopenia |
OMIM:247800 |
| Leydig Cell Hypoplasia |
|
Absence of secondary sex characteristics, Testicular gonadoblastoma, Increased circulating gonado... |
ORPHA:755 |
| Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Ambiguous genitalia, Adrenogenital syndrome, Male pseudohermaphroditism |
OMIM:202110 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Increased serum bile acid concentration, Hypoalbuminemia, Decreased circulating ceruloplasmin con... |
OMIM:242150 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Eosinophilia, Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell co... |
OMIM:243700 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyperkalemia, Female external genitalia in individual with 46,XY karyotype, Abnormal female exter... |
ORPHA:90790 |
| Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Adrenogenital syndrome, Elevated circulating 21-deoxycortisol concentration,... |
OMIM:201910 |
| Liver Disease, Severe Congenital |
|
Anemia, Hypospadias, Lymphocytosis, Hyperbilirubinemia, Hypocalcemia, Hypoproteinemia, Hyperalani... |
OMIM:619991 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Monocytosis, Neutropenia |
OMIM:613107 |
| Bacterial Toxic-Shock Syndrome |
|
Hypocalcemia, Increased circulating myelocyte count, Elevated circulating creatine kinase concent... |
ORPHA:36234 |
| 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 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Hypouricemia, Neutropenia in presence of anti-neutropil antibodies, ... |
OMIM:613179 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
B lymphocytopenia, T lymphocytopenia, Absence of lymph node germinal center, Lymphopenia, Absent ... |
ORPHA:277 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hypoalbuminemia, Hepatosplenomegaly |
ORPHA:367 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration, Elevat... |
ORPHA:64753 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Abnormal circulating homocysteine concentration, Abnormal circulating methionine concentration, H... |
ORPHA:88618 |
| Multiple Myeloma |
|
Anemia, Lymphadenopathy, Hypercalcemia, Splenomegaly, Hyperproteinemia, Elevated circulating crea... |
ORPHA:29073 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hyperbilirubinemia, Thrombocytopenia, Splenomegaly, Elevated circulating alpha-fetoprotein concen... |
OMIM:251880 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Bone marrow hypo... |
OMIM:619041 |
| Fanconi Anemia, Complementation Group V |
|
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Elevated circulating alpha-fetoprotein con... |
OMIM:617243 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermittent thrombocytopenia, Splenomegaly, Abs... |
OMIM:150550 |
| Disabling Pansclerotic Morphea Of Childhood |
|
Neutropenia, Elevated circulating C-reactive protein concentration, Lymphopenia |
OMIM:620443 |
| Aicardi-Goutieres Syndrome 9 |
|
Anemia, Hypothyroidism, Hepatosplenomegaly, Hypoalbuminemia, Micropenis, Hemolytic anemia |
OMIM:619487 |
| Maternal Uniparental Disomy Of Chromosome 6 |
|
Clitoral hypertrophy, Increased serum testosterone level, Hydrocele testis, Thrombocytopenia, Con... |
ORPHA:96181 |
| Nephrotic Syndrome, Type 11 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:616730 |
| Igg4-Related Pachymeningitis |
|
Eosinophilia, Parotitis, Lymphadenitis, Elevated circulating C-reactive protein concentration |
ORPHA:449427 |
| Gaisböck Syndrome |
|
Hypertriglyceridemia, Increased red blood cell count, Elevated plasma cell count, Increased mean ... |
ORPHA:90041 |
| Nephrotic Syndrome, Type 8 |
|
Hypoalbuminemia |
OMIM:615244 |
| Igg4-Related Submandibular Gland Disease |
|
Enlarged lacrimal glands, Abnormal salivary gland morphology, Prostatitis, Lymphadenopathy, Abnor... |
ORPHA:449432 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... |
ORPHA:567548 |
| Cernunnos-Xlf Deficiency |
|
Anemia, B lymphocytopenia, T lymphocytopenia, Thrombocytopenia, Lymphopenia |
ORPHA:169079 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Delayed puberty, Absence of secondary sex characteristics, Ambiguous genitalia, male, Clitoral hy... |
ORPHA:289548 |
| Hyperaldosteronism, Familial, Type Iii |
|
Adrenal hyperplasia, Decreased circulating renin level, Hyperaldosteronism, Hypokalemia |
OMIM:613677 |
| Ziegler-Huang Syndrome |
|
Macrocytic anemia, Anterior pituitary hypoplasia, Persistence of hemoglobin F, Bone marrow hypoce... |
OMIM:620501 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Hypertriglyceridemia, Increased circulating ferritin concentration, Impaired lymphocyte transform... |
OMIM:619313 |
| Complete Androgen Insensitivity Syndrome |
|
Delayed puberty, Blind vagina, Increased circulating antimullerian hormone concentration, Abnorma... |
ORPHA:99429 |
| Transcobalamin Deficiency |
|
Neutropenia, Lymphopenia, Thrombocytopenia, Pancytopenia |
ORPHA:859 |
| Loeffler Endocarditis |
|
Eosinophilia |
ORPHA:75566 |
| Bone Marrow Failure Syndrome 6 |
|
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Hypothyroidism, Bone marr... |
OMIM:618849 |
| Alveolar Echinococcosis |
|
Abnormal adrenal morphology, Liver abscess, Anemia, Abnormal spleen morphology, Eosinophilia, Cut... |
ORPHA:284 |
| Autoimmune Polyendocrinopathy Type 1 |
|
Abnormal circulating calcium-phosphate regulating hormone concentration, Hypoparathyroidism, Adre... |
ORPHA:3453 |
| Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Eosinophilia, Lymphopenia |
OMIM:617425 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Delayed puberty, Absence of secondary sex characteristics, Ambiguous genitalia, male, Clitoral hy... |
ORPHA:168558 |
| Alg12-Cdg |
|
Hypospadias, B lymphocytopenia, Hyponatremia, Thrombocytopenia, Decreased serum insulin-like grow... |
ORPHA:79324 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypertriglyceridemia, Elevated circulating thyroid-stimulating hormone concentration, Hypocalcemi... |
OMIM:618183 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Hyperhomocystinemia, Meg... |
OMIM:617780 |
| Marburg Hemorrhagic Fever |
|
Lymphadenopathy, Hypokalemia, Neutrophilia in presence of infection, Abnormal lymphocyte morpholo... |
ORPHA:99826 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Anoperineal fistu... |
OMIM:619381 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Pericardial lymphangiectasia, Intestinal lymphangiectasia, Pleural lymphangiectasia, Pulmonary ly... |
OMIM:235510 |
| 46,Xy Sex Reversal 3 |
|
Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la... |
OMIM:612965 |
| Netherton Syndrome |
|
Hypereosinophilia |
OMIM:256500 |
| Liver Failure, Infantile, Transient |
|
Hypoalbuminemia, Hyperbilirubinemia |
OMIM:613070 |
| Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Adrenal hyperplasia, Increased circulating cortisol level |
OMIM:614190 |
| Immunodeficiency 114, Folate-Responsive |
|
Hypertriglyceridemia, Megaloblastic anemia, Thrombocytopenia, Splenomegaly, Lymphopenia, Increase... |
OMIM:620603 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Hypergonadotropic hypogonadism, Hypothyroidism, Hypoalbuminemia, Hypocholesterolemia, Thrombocytosis |
OMIM:212065 |
| Immunodeficiency 89 And Autoimmunity |
|
Hypochromic microcytic anemia, Elevated circulating C-reactive protein concentration, Decreased e... |
OMIM:619632 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Delayed puberty, Anemia, Decreased circulating carnitine concentration, Decreased circulating iro... |
ORPHA:89842 |
| Trichohepatoenteric Syndrome 1 |
|
Abnormality of iron homeostasis, Hypospadias, Hypergalactosemia, Increased mean platelet volume, ... |
OMIM:222470 |
| Immunodeficiency 13 |
|
B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lympho... |
OMIM:615518 |
| Genetic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia |
ORPHA:656 |
| Iga Pemphigus |
|
Eosinophilia, Cutaneous abscess |
ORPHA:555905 |
| Secondary Intestinal Lymphangiectasia |
|
Decreased circulating prealbumin concentration, Secondary hyperaldosteronism, Lymphopenia, Reduce... |
ORPHA:90363 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Hypoplasia ... |
ORPHA:168563 |
| Igg4-Related Ophthalmic Disease |
|
Enlarged lacrimal glands, Prostatitis, Abnormality of the anterior pituitary, Lymphadenopathy, El... |
ORPHA:449563 |
| Coccidioidomycosis |
|
Abnormality of the female genitalia, Mediastinal lymphadenopathy, Lymphadenopathy, Abnormality of... |
ORPHA:228123 |
| Idiopathic Hypereosinophilic Syndrome |
|
Anemia, Generalized lymphadenopathy, Myeloproliferative disorder, Leukocytosis, Neutrophilia, Hep... |
ORPHA:3260 |
| Al Amyloidosis |
|
Abnormal salivary gland morphology, Anemia, Increased circulating NT-proBNP concentration, Howell... |
ORPHA:85443 |
| Testicular Regression Syndrome |
|
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... |
ORPHA:983 |
| Partial Androgen Insensitivity Syndrome |
|
Blind vagina, Increased circulating antimullerian hormone concentration, Clitoral hypertrophy, In... |
ORPHA:90797 |
| Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Anemia, Hypotriglyceridemia, Hyperbilirubinemia, Abnorma... |
ORPHA:14 |
| Familial Hyperaldosteronism Type Iii |
|
Adrenal hyperplasia, Abnormal circulating renin, Hypokalemia, Glucocortocoid-insensitive primary ... |
ORPHA:251274 |
| Phoar2-Enteropathy Syndrome |
|
Hypoalbuminemia |
OMIM:614441 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Acute leukemia, Abnormal neutrophil count, Lymphadenopathy, Myeloproliferative disorder, Leukocyt... |
ORPHA:3226 |
| Ataxia-Telangiectasia |
|
Delayed puberty, Abnormal testis morphology, Type II diabetes mellitus, Lymphopenia, Aplasia/Hypo... |
ORPHA:100 |
| Primary Unilateral Adrenal Hyperplasia |
|
Adrenal hyperplasia, Decreased circulating renin level, Hypokalemia, Glucocortocoid-insensitive p... |
ORPHA:231580 |
| Igg4-Related Kidney Disease |
|
Prostatitis, Abnormality of the anterior pituitary, Lymphadenopathy, Elevated circulating C-react... |
ORPHA:449395 |
| Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency |
|
Eosinophilia |
ORPHA:2314 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Adrenal hyperplasia, ... |
OMIM:219080 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Abnormal circulating testosterone concentration, Ambiguous genitalia, Hypokalemia, Increased urin... |
ORPHA:786 |
| Juvenile Polyposis Syndrome |
|
Hypoalbuminemia, Anemia, Hypokalemia |
OMIM:174900 |
| Immunodeficiency 91 And Hyperinflammation |
|
Hemophagocytosis, Elevated circulating C-reactive protein concentration, Lymphadenopathy, Neutrop... |
OMIM:619644 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Monocytosis, B lymphocytopenia, Leukocytosis, Neutrophilia, Thrombocytosis |
OMIM:619281 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Hypoalbuminemia, Thrombocytopenia, Normochromic anemia |
OMIM:254900 |
| Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology |
ORPHA:1164 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Leukopenia, Hepatosplenomegaly, Hypoalbumi... |
ORPHA:505248 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Autoimmune hemolytic anemia, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, Bone marrow hy... |
OMIM:301078 |
| Mirage Syndrome |
|
Hyperkalemia, Anemia, Hypospadias, Adrenal hypoplasia, Hypergonadotropic hypogonadism, Decreased ... |
OMIM:617053 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Decreased proportion of CD8-positive T cells, T lymphocytopenia, Decreased proportion of CD4-posi... |
ORPHA:508533 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hyperammonemia, Hypoalbuminemia, Conjugated hyperbilirubinemia, Decreased serum zinc |
OMIM:617093 |
| Wiskott-Aldrich Syndrome |
|
Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Decrease... |
OMIM:301000 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Lymphadenopathy, Elevated circulating C-reactive protein concentration, Increased proportion of C... |
OMIM:617099 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Hypoalbuminemia, Neonatal death, Elevated circulating creatine kinase concentration |
OMIM:619055 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Delayed puberty, Abnormal female external genitalia morphology, Abnormal ovarian morphology, Abno... |
ORPHA:95699 |
| Angiostrongyliasis |
|
Hypereosinophilia |
ORPHA:74 |
| Sarcoidosis |
|
Enlarged lacrimal glands, Abnormality of the adrenal glands, Anemia, Lymphadenopathy, Abnormal ly... |
ORPHA:797 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypoalbuminemia, Hyperalaninemia, Bile duct proliferation |
OMIM:618329 |
| Hydatidiform Mole |
|
Anemia, Hyperthyroidism, Enlarged uterus |
ORPHA:99927 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Reduced circulating growth hormone concentration, Hypernatremia, Hypoalbuminemia |
OMIM:615508 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Eosinophilia |
ORPHA:183 |
| Relapsing Fever |
|
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Increased total bili... |
ORPHA:91547 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Lymphadenitis, Granuloma, Hepatosplenom... |
OMIM:618935 |
| Incontinentia Pigmenti |
|
Breast hypoplasia, Breast aplasia, Hypoplastic nipples, Leukocytosis, Eosinophilia, Supernumerary... |
OMIM:308300 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Delayed puberty, Hypoplasia of the ovary, Decreased circulating gonadotropin concentration, Decre... |
OMIM:614841 |
| Primary Biliary Cholangitis |
|
Abnormal circulating lipid concentration, Splenomegaly, Conjugated hyperbilirubinemia, Abnormalit... |
ORPHA:186 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Genital ulcers, Thrombocytopenia, Hemolytic anemia, Lymphopenia |
OMIM:616744 |
| Wilson Disease |
|
Anemia, Decreased circulating ceruloplasmin concentration, Hypoparathyroidism, Hypouricemia, Hype... |
OMIM:277900 |
| Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Adrenal hyperplasia, Diabetes mellitus, Primary hypercortisolism, Increased circulating cortisol ... |
OMIM:615830 |
| Adult Idiopathic Neutropenia |
|
Monocytopenia, Monocytosis, Neutropenia, Lymphopenia |
ORPHA:2688 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Adrenal hyperplasia, Abnormal circulating renin, Hyperaldosteronism, Hypokalemia |
ORPHA:369929 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr... |
OMIM:616005 |
| 46,Xx Ovotesticular Difference Of Sex Development |
|
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... |
ORPHA:2138 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Anemia, Aplasia of the uterus, Leukocytosis, Thrombocytopenia, Hepatosplenomegaly, Eosinophilia, ... |
OMIM:274000 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hypoalbuminemia, Hyperlipidemia, Hydrocele testis |
ORPHA:567546 |
| Ovarian Dysgenesis 7 |
|
Delayed puberty, Elevated circulating follicle stimulating hormone level, Elevated circulating lu... |
OMIM:618117 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Macrocytic anemia, Rectal abscess, Reduction of neutrophil motility, Leukocytosis, Neutrophilia, ... |
OMIM:608203 |
| Mucoepithelial Dysplasia, Hereditary |
|
Eosinophilia |
OMIM:158310 |
| Ovarian Dysgenesis 6 |
|
Absence of pubertal development, Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:618078 |
| Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature |
|
Anemia, Reduced haptoglobin level, Schistocytosis, Leukopenia, Thrombocytopenia, Lymphopenia, Ele... |
OMIM:301110 |
| Juvenile Polyposis Syndrome |
|
Neoplasm of the pancreas, Anemia, Hypoproteinemia, Rectocele, Brain abscess |
ORPHA:2929 |
| Adult-Onset Still Disease |
|
Abnormal circulating lipid concentration, Anemia, Generalized lymphadenopathy, Elevated circulati... |
ORPHA:829 |
| Premature Ovarian Failure 7 |
|
Gonadal dysgenesis, Clitoral hypertrophy, Elevated circulating follicle stimulating hormone level... |
OMIM:612964 |
| Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
| Ovarian Dysgenesis 9 |
|
Delayed puberty, Decreased cirrculating antimullerian hormone circulation, Hypoplasia of the ovar... |
OMIM:619665 |
| Kawasaki Disease |
|
Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemia, Thrombocyto... |
ORPHA:2331 |
| Juvenile Polyposis Of Infancy |
|
Hypoalbuminemia, Refractory anemia, Anemia, Freckled genitalia |
ORPHA:79076 |
| Smith-Lemli-Opitz Syndrome |
|
Ambiguous genitalia, Hypospadias, Penoscrotal hypospadias, Bifid scrotum, Bicornuate uterus, Elev... |
OMIM:270400 |
| Incontinentia Pigmenti |
|
Eosinophilia, Supernumerary nipple |
ORPHA:464 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Reduction of neutrophil motility, Neutrophilia |
OMIM:266265 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Hyperlipidemia, Prima... |
ORPHA:189427 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Hyperbilirubinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethio... |
OMIM:617156 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Anemia, Pancytopenia, Hypocalcemia, Unconjugated hyperbilirubinemia, Bile duct proliferation, Sma... |
OMIM:613658 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypoplasia of the uterus, Azoospermia, Decreased circulating follicle stimulating hormone concent... |
OMIM:614837 |
| Primary Sclerosing Cholangitis |
|
Cholelithiasis, Thyroiditis, Hepatosplenomegaly, Splenomegaly, Neoplasm of the gallbladder, Hypoa... |
ORPHA:171 |
| Pierson Syndrome |
|
Hypoproteinemia |
OMIM:609049 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, T lymphocytopenia, Hepatosplenomegaly, Lymphopenia, Abnormally low T cell ... |
OMIM:242700 |
| Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Neutrophilia, Leukocytosis, Elevated circulating C-reactive protein concentration |
ORPHA:1930 |
| Xfe Progeroid Syndrome |
|
Hypoalbuminemia |
OMIM:610965 |
| Staphylococcal Necrotizing Pneumonia |
|
Elevated circulating C-reactive protein concentration, Leukocytosis, Increased circulating procal... |
ORPHA:36238 |
| Cryptogenic Organizing Pneumonia |
|
Neutrophilia, Leukocytosis, Elevated circulating C-reactive protein concentration |
ORPHA:1302 |
| Galloway-Mowat Syndrome 3 |
|
Hypoalbuminemia |
OMIM:617729 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Hypoalbuminemia, Anemia |
ORPHA:79396 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Abnormal female external genitalia morphology, Aplasia of the upper vagina, Aplasia of the vagina... |
OMIM:277000 |
| Agammaglobulinemia, X-Linked |
|
Prostatitis, Anemia, B lymphocytopenia, T lymphocytopenia, Lymph node hypoplasia, Epididymitis, N... |
OMIM:300755 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Anemia, Elevated circulating C-reactive protein concentration, Paratracheal lymphadenopathy, Leuk... |
OMIM:615934 |
| Ovarian Dysgenesis 2 |
|
Delayed puberty, Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:300510 |
| Psoriasis 14, Pustular |
|
Neutrophilia, Leukocytosis, Elevated circulating C-reactive protein concentration |
OMIM:614204 |
| Diethylstilbestrol Syndrome |
|
Hypoplasia of the uterus, Hypospadias, Abnormal testis morphology, Vaginal neoplasm, Abnormality ... |
ORPHA:1916 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACTH co... |
OMIM:615954 |
| Ovarian Dysgenesis 5 |
|
Decreased serum estradiol, Hypoplasia of the uterus, Elevated circulating follicle stimulating ho... |
OMIM:617690 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Pheochromocytoma, Adrenal hyperplasia, Pulmonary carcinoid tumor, Lymphopenia, Medullary thyroid ... |
ORPHA:99889 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Increased circulating androstenedione concentration, Clitoral hypertrophy, Precocious puberty in ... |
ORPHA:90794 |
| Immunodeficiency 85 And Autoimmunity |
|
T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr... |
OMIM:619510 |
| Mullerian Aplasia And Hyperandrogenism |
|
Increased circulating androstenedione concentration, Aplasia of the vagina, Increased circulating... |
OMIM:158330 |
| Galloway-Mowat Syndrome 1 |
|
Hypoalbuminemia |
OMIM:251300 |
| Perrault Syndrome 3 |
|
Hypergonadotropic hypogonadism, Elevated circulating follicle stimulating hormone level, Elevated... |
OMIM:614129 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Lymphopenia, P... |
OMIM:619767 |
| Testicular Agenesis |
|
Hypoplasia of the uterus, Abnormal vas deferens morphology, Absent external genitalia, Urogenital... |
ORPHA:325124 |
| Cushing Disease |
|
Decreased eosinophil count, Increased urinary cortisol level, Leukocytosis, Adrenal hyperplasia, ... |
ORPHA:96253 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Abnormal T cell morphology, Autoimmune hemolytic anemia, Decreased proportion of CD3-positive T c... |
ORPHA:760 |
| 46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Ovotestis, Sex reversal, Hypospadias, Adrenal gland agenesis |
OMIM:611812 |
| Premature Ovarian Failure 18 |
|
Decreased cirrculating antimullerian hormone circulation, Hypoplasia of the ovary, Elevated circu... |
OMIM:619203 |
| Hydrolethalus Syndrome 1 |
|
Stillbirth, Adrenal gland dysgenesis, Hypospadias, Abnormal vagina morphology, Accessory spleen, ... |
OMIM:236680 |
| Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
Lymphopenia, T lymphocytopenia |
OMIM:618309 |
| Immunodeficiency 55 |
|
Absent natural killer cells, Neutropenia, Lymphadenopathy, Lymphopenia |
OMIM:617827 |
| Tetraamelia Syndrome 1 |
|
Absent external genitalia, Hypoplasia of the fallopian tube, Asplenia, Vaginal atresia, Adrenal g... |
OMIM:273395 |
| Ataxia-Telangiectasia |
|
Delayed puberty, Abnormal spermatogenesis, Hypoplasia of the thymus, T lymphocytopenia, Female hy... |
OMIM:208900 |
| Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... |
OMIM:614842 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Poikilocytosis, Bone marrow hypocellularity, Elliptocytosis, Anisocytosis, Thr... |
OMIM:300835 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytopenia |
OMIM:616100 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Anemia, Thrombocytopenia, Lymphopenia, Type I diabetes mellitus, Cryptorchidism |
OMIM:620365 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypocalcemic seizures, Hypoparathyroidism, Hypocalcemia, Aplasia of the uterus, Uterus didelphys,... |
ORPHA:2237 |
| Immunodeficiency 113 With Autoimmunity And Autoinflammation |
|
Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration, Intraalveolar... |
OMIM:620565 |
| 46,Xy Sex Reversal 4 |
|
Gonadal dysgenesis, Hypoplastic labia majora, Hypergonadotropic hypogonadism, Increased blood ure... |
OMIM:154230 |
| Premature Ovarian Failure 6 |
|
Streak ovary, Elevated circulating follicle stimulating hormone level, Elevated circulating lutei... |
OMIM:612310 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Neutrophilia, Abscess, Splenomegaly, Elevated circulating C-reactive protein concentration |
OMIM:612852 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Reduced natural killer cell count, Neutropenia, Cutaneous abscess, Lymphopenia |
OMIM:619752 |
| 46,Xy Sex Reversal 7 |
|
Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, G... |
OMIM:233420 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hypertriglyceridemia, Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Lymphopenia |
OMIM:617591 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent peripheral lymph nodes in pres... |
OMIM:600802 |
| Wiskott-Aldrich Syndrome |
|
Acute leukemia, Anemia, Abnormal eosinophil morphology, Hypoplasia of the thymus, Abnormal platel... |
ORPHA:906 |
| 46,Xx Sex Reversal 2 |
|
Hypoplasia of the uterus, Ovotestis, Azoospermia, Bifid scrotum, True hermaphroditism, Elevated c... |
OMIM:278850 |
| Leptospirosis |
|
Thrombocytopenia, Lymphadenopathy, Hyperproteinemia |
ORPHA:509 |
| Satoyoshi Syndrome |
|
Mildly elevated creatine kinase, Hypoplasia of the uterus |
OMIM:600705 |
| Tropical Endomyocardial Fibrosis |
|
Eosinophilia, Hypoalbuminemia, Splenomegaly |
ORPHA:75565 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Delayed puberty, Absence of secondary sex characteristics, Breast hypoplasia, Male hypogonadism, ... |
ORPHA:432 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Delayed puberty, Absence of secondary sex characteristics, Ambiguous genitalia, male, Abnormal se... |
ORPHA:90796 |
| Premature Ovarian Failure 13 |
|
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level |
OMIM:617442 |
| Renal And Mullerian Duct Hypoplasia |
|
Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis |
OMIM:266810 |
| Familial Mediterranean Fever |
|
Elevated circulating C-reactive protein concentration, Leukocytosis, Neutrophilia, Splenomegaly, ... |
OMIM:249100 |
| Cowden Syndrome 1 |
|
Thyroiditis, Hypothyroidism, Varicocele, Ovarian cyst, Thyroid adenoma, Hyperthyroidism, Lymphope... |
OMIM:158350 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Pancytopenia, Leu... |
OMIM:615688 |
| Satoyoshi Syndrome |
|
Hypoplasia of the ovary, Abnormality of the ovary, Nephrogenic diabetes insipidus, Abnormality of... |
ORPHA:3130 |
| Perrault Syndrome 6 |
|
Streak ovary, Hypoplasia of the uterus |
OMIM:617565 |
| Immunodeficiency 9 |
|
Hypoplasia of the thymus, Abnormal natural killer cell count, Lymphopenia |
OMIM:612782 |
| Estrogen Resistance |
|
Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Breast aplasia, Incre... |
OMIM:615363 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Perianal abscess, Anemia, Erythroid hypoplasia, Hypoplasia of the thymus, Cryptorchidism, Leukope... |
OMIM:612541 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Rectovaginal fistula, B lymphocytopen... |
ORPHA:35078 |
| Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus |
OMIM:608996 |
| Perrault Syndrome 4 |
|
Hypoplasia of the ovary, Bicornuate uterus, Decreased serum estradiol, Increased circulating gona... |
OMIM:615300 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Leukocyt... |
OMIM:243150 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Diabetes insipidus, Hyperbilirubinemia, Anterior pituitary hypoplasia, Bile duct proliferation, N... |
OMIM:619534 |
| Estrogen Resistance Syndrome |
|
Absence of secondary sex characteristics, Breast hypoplasia, Hyperinsulinemia, Abnormal circulati... |
ORPHA:785 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Hypoparathyroidism, Aplasia of the vagina, Aplasia of the uterus, Uterus didelphys, Septate vagina |
OMIM:146255 |
| Whim Syndrome |
|
Parotitis, Lymphadenitis, Abnormal neutrophil morphology, Cervix cancer, Lymphopenia, Neutropenia |
ORPHA:51636 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Anemia, B lymphocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Leukopenia, Thrombocyt... |
ORPHA:508542 |
| Meige Disease |
|
Absence of lymph node germinal center, Lymph node hypoplasia |
ORPHA:90186 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Hypoplasia of the uterus, Bicornuate uterus, Azoospermia |
OMIM:601076 |
| Müllerian Aplasia And Hyperandrogenism |
|
Hypoplasia of the uterus, Increased serum testosterone level, Abnormality of the ovary, Abnormal ... |
ORPHA:247768 |
| Hyper-Igd Syndrome |
|
Lymphadenopathy, Leukocytosis, Lymphadenitis, Neutrophilia, Hepatosplenomegaly, Splenomegaly |
OMIM:260920 |
| Lumbar Syndrome |
|
Hypospadias, Bifid scrotum, Bifid uterus, Ambiguous genitalia, Cryptorchidism, Micropenis, Hypopl... |
ORPHA:83628 |
| Sweet Syndrome |
|
Anemia, Acute myeloid leukemia, Elevated circulating C-reactive protein concentration, Chronic ly... |
ORPHA:3243 |
| Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Recurrent cutaneous abscess formation, Eosinophilia, Cutaneous abscess |
OMIM:147060 |
| Woodhouse-Sakati Syndrome |
|
Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Hypopla... |
ORPHA:3464 |
| Seckel Syndrome 7 |
|
Central hypothyroidism, Hypoplasia of the uterus |
OMIM:614851 |
| Immunodeficiency 31C |
|
Autoimmune hemolytic anemia, Delayed puberty, Impaired lymphocyte transformation with phytohemagg... |
OMIM:614162 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Endometriosis, Aplasia of the uterus, Ectopic ovary, Hypoplasia of the vagina, Aplasia of the ovary |
ORPHA:3109 |
| Woodhouse-Sakati Syndrome |
|
Elevated circulating thyroid-stimulating hormone concentration, Hypoplasia of the uterus, Hyperli... |
OMIM:241080 |
| Microphthalmia, Syndromic 9 |
|
Multilobulated spleen, Bicornuate uterus, Hypoplastic spleen, Neonatal death, Cryptorchidism, Hyp... |
OMIM:601186 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia of the uterus, Thrombocytopenia |
ORPHA:3320 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Autoimmune hemolytic anemia, Delayed puberty, Abnormality of the endocrine system, Primary hypoth... |
ORPHA:391487 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Anemia, Increased mean corpuscular volume, Bone marrow hypocellularity, Leukopen... |
OMIM:127550 |
| Common Variable Immunodeficiency |
|
Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytopenia, Hemolytic anemia |
ORPHA:1572 |
| Pmm2-Cdg |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperplastic labia majora, Hyperi... |
ORPHA:79318 |
| Immunodeficiency 87 And Autoimmunity |
|
Autoimmune hemolytic anemia, Hypertriglyceridemia, Hypokalemia, Elevated circulating C-reactive p... |
OMIM:619573 |
| Pneumocystosis |
|
Abnormal neutrophil count |
ORPHA:723 |
| Viss Syndrome |
|
Hypothyroidism, Hypereosinophilia |
OMIM:619472 |
| Doors Syndrome |
|
Adrenal hyperplasia, Ambiguous genitalia, Thrombocytosis, Congenital hypothyroidism |
ORPHA:79500 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Decreased circulating androstenedione concentration, Clitoral hypertrophy, Decreased circulating ... |
OMIM:201750 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Hypoalbuminemia |
OMIM:614748 |
| Fanconi Anemia, Complementation Group L |
|
Bone marrow hypocellularity, Aplasia of the uterus, Anemia, Micropenis |
OMIM:614083 |
| Myoectodermal Gonadal Dysgenesis Syndrome |
|
Gonadal dysgenesis, Accessory spleen, Clitoral hypoplasia, Elevated circulating follicle stimulat... |
OMIM:618419 |
| Oeis Complex |
|
Epispadias, Ambiguous genitalia, male, Rectovaginal fistula, Vesicovaginal fistula, Labial hypopl... |
OMIM:258040 |
| Renal Cysts And Diabetes Syndrome |
|
Maturity-onset diabetes of the young, Hypospadias, Hyperuricemia, Pancreatic hypoplasia, Bicornua... |
OMIM:137920 |
| Crimean-Congo Hemorrhagic Fever |
|
Lymphadenopathy, Pancytopenia, Parotitis, Inappropriate antidiuretic hormone secretion, Leukocyto... |
ORPHA:99827 |
| Townes-Brocks Syndrome 2 |
|
Bifid uterus, Hypospadias, Rectovaginal fistula |
OMIM:617466 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Hypoplasia of the uterus, Vaginal atresia |
OMIM:617914 |
| Meckel Syndrome 12 |
|
Hypoplasia of the uterus, Vaginal atresia |
OMIM:616258 |
| Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Delayed puberty, Decreased response to growth hormone stimulation test, Hypoplasia of the uterus |
OMIM:615866 |
| Acromesomelic Dysplasia 3 |
|
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Elevated circu... |
OMIM:609441 |
| Cardiac-Urogenital Syndrome |
|
Penoscrotal hypospadias, Accessory spleen, Aplasia of the uterus, Bifid scrotum, Unilateral crypt... |
OMIM:618280 |
| Meckel Syndrome 14 |
|
Ambiguous genitalia, Aplasia of the uterus |
OMIM:619879 |
| Reynolds Syndrome |
|
Hyperbilirubinemia, Calcinosis, Splenomegaly, Lymphopenia |
OMIM:613471 |
| Popliteal Pterygium Syndrome |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... |
OMIM:119500 |
| Pontocerebellar Hypoplasia Type 7 |
|
Gonadal dysgenesis, Clitoral hypertrophy, Abnormal scrotal rugation, Aplasia of the uterus, Micro... |
ORPHA:284339 |
| Limb-Mammary Syndrome |
|
Breast aplasia, Hypoplastic nipples, Aplasia of the uterus, Absent nipple, Bilateral breast hypop... |
ORPHA:69085 |
| Chromosome 17Q12 Deletion Syndrome |
|
Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus, Ovarian cyst, Cryptorchidism |
OMIM:614527 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Aplasia of the uterus, Absent external genitalia, Aplasia of the vagina |
OMIM:271520 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Bifid uterus, Supernumerary nipple, Abnormal reproductive system morphology |
ORPHA:1521 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
| Dermatomyositis |
|
Abnormal eosinophil morphology, Elevated circulating creatine kinase concentration |
ORPHA:221 |
| Phocomelia, Schinzel Type |
|
Cryptorchidism, Aplasia of the uterus, Hypoplasia of penis |
ORPHA:2879 |
| Yellow Fever |
|
Hyperbilirubinemia, Elevated circulating creatine kinase concentration, Leukocytosis, Neutrophili... |
ORPHA:99829 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Aplasia of the uterus, Aplasia of the vagina |
ORPHA:457284 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Clitoral hypertrophy, Hypospadias, Ovotestis, Chordee, Micropenis, Hypoplasia of the uterus |
OMIM:309801 |
| Wolf-Hirschhorn Syndrome |
|
Hypospadias, Accessory spleen, Aplasia of the uterus, Precocious puberty, Cryptorchidism |
OMIM:194190 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Anemia, Uterine rupture, Cervical insufficiency, Uterine prolapse, Cystocele, Cryptorchidism |
OMIM:130050 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Increased circulating gonadotropin level, Hypoplasia of the uterus |
OMIM:110100 |
| Exstrophy-Epispadias Complex |
|
Penoscrotal transposition, Epispadias, Bifid penis, Bifid scrotum, Absent penis, Bifid uterus, Cy... |
ORPHA:322 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Lacrimal gland aplasia, Decreased circulating progesterone, Lacrimal gland hypoplasia, Hypergonad... |
ORPHA:572333 |
| Neu-Laxova Syndrome 1 |
|
Stillbirth, Neonatal death, Bifid uterus, Cryptorchidism |
OMIM:256520 |
| Okamoto Syndrome |
|
Bifid uterus, Splenomegaly |
ORPHA:2729 |
| Coffin-Siris Syndrome 1 |
|
Clitoral hypertrophy, Cryptorchidism, Aplasia of the uterus, Hypospadias |
OMIM:135900 |
| Townes-Brocks Syndrome 1 |
|
Hypospadias, Rectovaginal fistula, Bifid scrotum, Rectoperineal fistula, Hypothyroidism, Bifid ut... |
OMIM:107480 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Hypospadias, Anteriorly displaced genitalia, Hypoplastic nipples, Aplasia of the uterus, Small sc... |
OMIM:276820 |
| Vascular Ehlers-Danlos Syndrome |
|
Hypospadias, Hypokalemia, Uterine rupture, Uterine prolapse, Cystocele, Cryptorchidism |
ORPHA:286 |
| Norrie Disease |
|
Delayed puberty, Diabetes mellitus, Uterine rupture, Cryptorchidism |
ORPHA:649 |
| Pallister-Killian Syndrome |
|
Stillbirth, Aplasia of the upper vagina, Hypospadias, Labial hypoplasia, Aplasia of the uterus, S... |
OMIM:601803 |
| Peters Plus Syndrome |
|
Hypospadias, Anterior hypopituitarism, Clitoral hypoplasia, Congenital hypothyroidism, Cryptorchi... |
ORPHA:709 |
| Loeys-Dietz Syndrome |
|
Uterine rupture |
ORPHA:60030 |
| Peters-Plus Syndrome |
|
Bilobate gallbladder, Hypospadias, Clitoral hypoplasia, Hypoplasia of the vagina, Cryptorchidism,... |
OMIM:261540 |
