Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections, Abnor... |
OMIM:308220 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent bacterial infections, Agammaglobulinemia, Meningitis, Recurrent pneumonia, Recurrent re... |
OMIM:613500 |
Immunodeficiency 34 |
|
Recurrent mycobacterial infections, Severe recurrent varicella |
OMIM:300645 |
Complement Component 7 Deficiency |
|
Recurrent meningococcal disease, Recurrent Neisserial infections |
OMIM:610102 |
Immunodeficiency 30 |
|
Recurrent infections, Recurrent mycobacterial infections |
OMIM:614891 |
Tuftsin Deficiency |
|
Abnormality of the spleen, Recurrent infections |
OMIM:191150 |
Immunodeficiency, Common Variable, 5 |
|
Recurrent bacterial infections, Chronic decreased circulating total IgG, Recurrent respiratory in... |
OMIM:613495 |
Mannose-Binding Lectin Deficiency |
|
Recurrent herpes, Disseminated cryptosporidium infection, Recurrent skin infections, Recurrent me... |
OMIM:614372 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent candida infections |
OMIM:242870 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci |
OMIM:233670 |
Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
Immunodeficiency 35 |
|
Recurrent fungal infections, Recurrent viral infections, Increased circulating IgE level, Recurre... |
OMIM:611521 |
Coxsackievirus B3 Susceptibility |
|
Recurrent viral infections |
OMIM:120050 |
Ciliary Discoordination Due To Random Ciliary Orientation |
|
Recurrent infections |
OMIM:215518 |
Complement Component 8 Deficiency, Type Ii |
|
Meningitis, Recurrent Neisserial infections |
OMIM:613789 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu... |
ORPHA:70592 |
Immunodeficiency, Common Variable, 4 |
|
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent pneumonia, Decreased c... |
OMIM:613494 |
Immunodeficiency 51 |
|
Eczema, Folliculitis, Pustule, Chronic furunculosis, Pneumonia, Recurrent bronchitis, Chronic ora... |
OMIM:613953 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections, Decreased circ... |
OMIM:605258 |
Complement Component 6 Deficiency |
|
Recurrent meningococcal disease |
OMIM:612446 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Recurrent bacterial infections, Agammaglobulinemia, Recurrent bronchitis, Recurrent otitis media,... |
OMIM:613501 |
Immunodeficiency 31B |
|
Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections |
OMIM:613796 |
Acne Inversa, Familial, 3 |
|
Perifolliculitis, Acne inversa, Chronic furunculosis, Recurrent cutaneous abscess formation |
OMIM:613737 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent bacterial infections, Agammaglobulinemia, Recurrent bronchitis, Chronic sinusitis, Recu... |
OMIM:612692 |
Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Recurrent viral infections |
OMIM:310350 |
Immunodeficiency 61 |
|
Recurrent bacterial infections, Agammaglobulinemia, Recurrent otitis media, Arthritis, Recurrent ... |
OMIM:300310 |
Ficolin 3 Deficiency |
|
Recurrent abscess formation, Necrotizing enterocolitis, Recurrent Staphylococcus aureus infection... |
OMIM:613860 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Recurrent bacterial infections, Decreased circulating IgA level, Decreased circulating IgG level,... |
OMIM:608106 |
Immunodeficiency 12 |
|
Recurrent bacterial infections, Recurrent viral infections |
OMIM:615468 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent bacterial infections, Agammaglobulinemia, Chronic sinusitis, Recurrent otitis media, Re... |
OMIM:613502 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent otitis media |
OMIM:616022 |
Immunodeficiency, Common Variable, 3 |
|
Recurrent bacterial infections, Reduced isohemagglutinin level, Decreased circulating IgA level, ... |
OMIM:613493 |
Neutropenia, Severe Congenital, X-Linked |
|
Recurrent bacterial infections |
OMIM:300299 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Recurrent bacterial infections, Decreased circulating IgA level, Impaired memory B cell generatio... |
OMIM:606843 |
Cd8 Deficiency, Familial |
|
Recurrent bacterial infections, Recurrent viral infections, Recurrent respiratory infections, Bro... |
OMIM:608957 |
Immunodeficiency 32A |
|
Lymphadenopathy, Recurrent infections |
OMIM:614893 |
Immune Deficiency Disease |
|
Recurrent bacterial infections, Cholangitis, Recurrent viral infections, Fulminant hepatitis, Dec... |
OMIM:242850 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections |
OMIM:616126 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Recurrent infections, Splenomegaly |
OMIM:606445 |
Complement Factor B Deficiency |
|
Recurrent bacterial infections, Pneumonia, Peritonitis, Meningitis, Recurrent meningococcal disease |
OMIM:615561 |
Hemochromatosis, Neonatal |
|
Increased serum iron, Abnormality of iron homeostasis, Hepatocellular necrosis, Hepatic fibrosis,... |
OMIM:231100 |
Fetal Cytomegalovirus Syndrome |
|
Hepatomegaly, Anemia, Splenomegaly |
ORPHA:294 |
Immunoglobulin Kappa Light Chain Deficiency |
|
Abnormal immunoglobulin level, Recurrent infections |
OMIM:614102 |
Premature Ovarian Failure 5 |
|
Secondary amenorrhea, Streak ovary, Hypoplasia of the ovary, Primary amenorrhea, Premature ovaria... |
OMIM:611548 |
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections |
OMIM:614868 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Coccidioidomycosis, Severe toxoplasmosis, Pneumonia, BCGosis, Lymphadenitis, Salmonella osteomyel... |
ORPHA:319552 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Sinusitis, Recurrent bacterial infections, Agammaglobulinemia, Pneumonia, Bronchiectasis, Recurre... |
OMIM:601495 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Bronchiectasis... |
OMIM:608184 |
Immunodeficiency 84 |
|
Recurrent bacterial infections, B lymphocytopenia, Persistent EBV viremia, Splenomegaly |
OMIM:619437 |
Pentosuria |
|
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration |
ORPHA:2843 |
Immunodeficiency 33 |
|
Increased circulating IgA level, Disseminated nontuberculous mycobacterial infection, Recurrent b... |
OMIM:300636 |
Pediatric Hepatocellular Carcinoma |
|
Elevated alpha-fetoprotein, Hepatomegaly, Hepatic necrosis, Hepatic fibrosis |
ORPHA:33402 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent bacterial infections, Recurrent opportunistic infections, Decreased circulating IgA lev... |
ORPHA:275 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Recurrent respiratory infections, Agammaglobulinemia, Recurrent infections |
OMIM:615214 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent infections |
OMIM:146830 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Atopic dermatitis, Recurrent bacterial infections, Eczema, Recurrent fungal infections, Recurrent... |
OMIM:243700 |
Perrault Syndrome 6 |
|
Secondary amenorrhea, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Irregula... |
OMIM:617565 |
Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Female infertility, Irregular menstruation, Premature ovarian insufficiency |
OMIM:619245 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness |
|
Recurrent Haemophilus influenzae infections, Otitis media, Chronic sinusitis, Recurrent bronchitis |
OMIM:300455 |
Immunodeficiency 27B |
|
Salmonella osteomyelitis, Recurrent mycobacterial infections, Osteomyelitis |
OMIM:615978 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive |
|
Hepatomegaly, Recurrent opportunistic infections, Lymphadenopathy, Failure to thrive secondary to... |
OMIM:608971 |
Bare Lymphocyte Syndrome, Type Ii |
|
Recurrent bacterial infections, Cholangitis, Agammaglobulinemia, Infectious encephalitis, Recurre... |
OMIM:209920 |
Ring Chromosome Y Syndrome |
|
Hypospadias, Unilateral cryptorchidism, Bifid scrotum, Streak ovary, Abnormality of the male geni... |
ORPHA:261529 |
Immunodeficiency 48 |
|
Hepatomegaly, Recurrent candida infections, Splenomegaly |
OMIM:269840 |
Immunodeficiency, Common Variable, 1 |
|
Recurrent bacterial infections, Pneumonia, Bronchiectasis, Decreased circulating IgA level, Impai... |
OMIM:607594 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Lymphadenopathy, Recurrent otitis media, Splenomegaly, Recurrent urinary tract infe... |
OMIM:618495 |
Immunodeficiency, Common Variable, 2 |
|
Recurrent bacterial infections, Bronchiectasis, Decreased circulating IgA level, Impaired T cell ... |
OMIM:240500 |
Hemoglobin H Disease |
|
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia |
OMIM:613978 |
Whim Syndrome 1 |
|
Recurrent bacterial infections, Bronchiectasis, Decreased circulating IgG level, Decreased circul... |
OMIM:193670 |
Premature Ovarian Failure 6 |
|
Secondary amenorrhea, Streak ovary, Elevated circulating follicle stimulating hormone level, Fema... |
OMIM:612310 |
Premature Ovarian Failure 18 |
|
Secondary amenorrhea, Irregular menstruation, Decreased antimullerian hormone level, Elevated cir... |
OMIM:619203 |
Premature Ovarian Failure 2A |
|
Secondary amenorrhea, Premature ovarian insufficiency |
OMIM:300511 |
Agammaglobulinemia 8, Autosomal Dominant |
|
Agammaglobulinemia, Recurrent infections, Recurrent otitis media |
OMIM:616941 |
Ovarian Dysgenesis 9 |
|
Decreased antimullerian hormone level, Elevated circulating follicle stimulating hormone level, H... |
OMIM:619665 |
Immunodeficiency 67 |
|
Increased circulating IgE level, Recurrent staphylococcal infections, Recurrent streptococcal inf... |
OMIM:607676 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent bacterial infections, Membranoproliferative glomerulonephritis |
OMIM:613779 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly |
OMIM:183350 |
African Iron Overload |
|
Hepatomegaly, Hepatic fibrosis, Elevated hepatic iron concentration, Hepatocellular carcinoma, Pe... |
ORPHA:139507 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly |
OMIM:206400 |
Premature Ovarian Failure 10 |
|
Elevated circulating follicle stimulating hormone level, Azoospermia, Hypoplasia of the ovary, Pr... |
OMIM:612885 |
Familial Hyperprolactinemia |
|
Menorrhagia, Infertility, Hemorrhagic ovarian cyst, Oligomenorrhea, Amenorrhea, Female hypogonadism |
ORPHA:397685 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Recurrent infections, Splenomegaly, Extramedullary... |
OMIM:615285 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly |
ORPHA:46532 |
Ovarian Dysgenesis 2 |
|
Secondary amenorrhea, Delayed puberty, Abnormality of the uterus, Primary amenorrhea, Premature o... |
OMIM:300510 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Cholangitis, Sepsis, Decreased specific pneumococcal antibody level, Recurrent herpes, Recurrent ... |
ORPHA:183675 |
Immunodeficiency 75 |
|
Decreased proportion of class-switched memory B cells, Lymphadenopathy, Hepatosplenomegaly, Recur... |
OMIM:619126 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Specific Granule Deficiency 1 |
|
Recurrent bacterial infections, Impaired neutrophil bactericidal activity |
OMIM:245480 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Chronic active Epstein-Barr virus infection, Severe varicella zoster infection, Mediastinal lymph... |
OMIM:300853 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Hypoplasia of the ovary, Decreased serum estradiol, Micropenis, Pr... |
OMIM:614841 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Sinusitis, Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Lac... |
ORPHA:572 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Hepatocellular necrosis, Depletion of mitochondrial DNA in liver, Micronodular cirr... |
OMIM:251880 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Abnormality of the ovary, Menorrhagia, Oligomenorrhea, Amenorrhea, Polycystic ovaries, Acne, Abno... |
ORPHA:2795 |
Immunodeficiency 32B |
|
Recurrent respiratory infections, Recurrent infections, Splenomegaly |
OMIM:226990 |
Thymic Aplasia |
|
Sinusitis, Sepsis, Chronic otitis media, Recurrent infections, Recurrent candida infections, Olig... |
ORPHA:83471 |
Griscelli Syndrome, Type 2 |
|
Recurrent bacterial infections, Reduced delayed hypersensitivity |
OMIM:607624 |
Perrault Syndrome 2 |
|
Amenorrhea, Streak ovary |
OMIM:614926 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Testicular dysgenesis, Gonadal dysgenesis with female appearance, male, Abnormal vagina morpholog... |
ORPHA:168563 |
Sea-Blue Histiocyte Disease |
|
Cirrhosis, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly |
OMIM:269600 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Enteroviral hepatitis, Recurrent bacterial infections, Infectious encephalitis, Pyoder... |
OMIM:307200 |
Immunodeficiency, Common Variable, 13 |
|
Recurrent bacterial infections, Decreased circulating antibody level |
OMIM:616873 |
Immunodeficiency 16 |
|
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly |
OMIM:615593 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Recurrent infections, Splenomegaly |
OMIM:616452 |
Encephalopathy Due To Prosaposin Deficiency |
|
Hepatomegaly, Recurrent respiratory infections, Splenomegaly |
ORPHA:139406 |
Immunodeficiency 14A, Autosomal Dominant |
|
Increased proportion of transitional B cells, Decreased proportion of class-switched memory B cel... |
OMIM:615513 |
Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Streak ovary, Hypergonadotropic hypogonadism |
OMIM:241090 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Immunodeficiency, Common Variable, 6 |
|
Recurrent bacterial infections, Decreased specific pneumococcal antibody level, Complete or near-... |
OMIM:613496 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphadenopathy, Hepatitis, Recurrent otitis media, Splenomegaly, Autoimmune thrombocytopenia, Ly... |
ORPHA:444463 |
Trimethylaminuria |
|
Anemia, Recurrent pneumonia, Neutropenia, Splenomegaly |
OMIM:602079 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, ... |
OMIM:619220 |
46,Xx Testicular Disorder Of Sex Development |
|
Male hypogonadism, Decreased testicular size, Ambiguous genitalia, Polycystic ovaries |
ORPHA:393 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypoplasia of the ovary, Decreased serum estradiol, Micropenis, Hypothalamic gonadotropin-releasi... |
OMIM:618841 |
Immunodeficiency 52 |
|
Lymphadenopathy, Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, R... |
OMIM:617514 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion... |
OMIM:603902 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent bacterial infections, Sepsis, Recurrent opportunistic infections, Pneumonia, Recurrent ... |
ORPHA:276 |
Premature Ovarian Failure 2B |
|
Primary amenorrhea, Premature ovarian insufficiency, Delayed puberty |
OMIM:300604 |
Selective Igm Deficiency |
|
Sepsis, Non-infectious meningitis, Severe varicella zoster infection, Recurrent herpes, Fasciitis... |
ORPHA:331235 |
Adult Idiopathic Neutropenia |
|
Recurrent bacterial infections, Helicobacter pylori infection, Recurrent fungal infections, Recur... |
ORPHA:2688 |
Premature Ovarian Failure 1 |
|
Irregular menstruation, Premature ovarian insufficiency, Increased circulating gonadotropin level |
OMIM:311360 |
Wiskott-Aldrich Syndrome 2 |
|
Reduced natural killer cell activity, Eczema, Defective T cell proliferation, Recurrent infections |
OMIM:614493 |
Complement Factor H Deficiency |
|
Recurrent bacterial infections |
OMIM:609814 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Hypogonadism, Abnormality of the ovary, Decreased testicular size |
ORPHA:1875 |
X-Linked Severe Congenital Neutropenia |
|
Recurrent bacterial infections |
ORPHA:86788 |
Obesity Due To Congenital Leptin Deficiency |
|
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... |
ORPHA:66628 |
Cernunnos-Xlf Deficiency |
|
Recurrent bacterial infections, Recurrent viral infections, Decreased circulating antibody level |
ORPHA:169079 |
Premature Ovarian Failure 9 |
|
Amenorrhea, Premature ovarian insufficiency, Increased circulating gonadotropin level |
OMIM:615724 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly, Microcytic anemia, Recurrent tonsillitis |
OMIM:618852 |
Perrault Syndrome 4 |
|
Secondary amenorrhea, Oligomenorrhea, Hypoplasia of the ovary, Increased circulating gonadotropin... |
OMIM:615300 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Recurrent bacterial infections, Increased circulating IgA level, Reduced natural killer cell acti... |
OMIM:300291 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Hepatocellular necrosis, Elevated circulating creatine kinase concentration, Hypera... |
OMIM:201475 |
Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Hypoplasia of the ovary, Premature ovarian insufficiency |
OMIM:609993 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Splenomegaly |
OMIM:619175 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Eczematoid dermatitis, Recurrent E. coli infections, Lymphadenitis, Discoid lupus rash, Osteomyel... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Eczematoid dermatitis, Recurrent E. coli infections, Lymphadenitis, Discoid lupus rash, Osteomyel... |
OMIM:233710 |
Ovarian Fibrothecoma |
|
Abnormality of the endometrium, Abnormality of the ovary, Increased serum testosterone level, Per... |
ORPHA:314478 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... |
ORPHA:179494 |
Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
Complement Factor I Deficiency |
|
Sinusitis, Recurrent otitis media, Pyelonephritis, Arthritis, Recurrent urinary tract infections,... |
OMIM:610984 |
Hyperbilirubinemia, Shunt, Primary |
|
Hepatomegaly, Erythroid hyperplasia, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequat... |
OMIM:237800 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Recurrent bacterial infections, Sepsis, Stomatitis, Decreased circulating IgA level, Impaired mem... |
OMIM:308230 |
Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro... |
OMIM:133180 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Eczematoid dermatitis, Recurrent sinopulmonary infections, Recurrent fungal infections, Chronic m... |
OMIM:147060 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Sepsis, Severe varicella zoster infection, Ascites, Lymphadenopathy, Recurrent infe... |
OMIM:615122 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Red Cell Phospholipid Defect With Hemolysis |
|
Reticulocytosis, Intermittent jaundice, Splenomegaly |
OMIM:179700 |
Immunodeficiency 76 |
|
B lymphocytopenia, Lymphadenopathy, Splenomegaly, Recurrent pneumonia, Lymphopenia, Recurrent bro... |
OMIM:619164 |
Gonadoblastoma |
|
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal dysgenesis with female appearance, male... |
ORPHA:206484 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Neutropenia, Monocytosis, Leukemia, Recurrent infections, Splenomegaly, Autoimmune ... |
OMIM:614470 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Hepatic necrosis, Abnormal circulating acetylcarnitine concentration, Mildly elevated creatine ki... |
ORPHA:71212 |
Granulomatous Disease, Chronic, X-Linked |
|
Eczematoid dermatitis, Recurrent E. coli infections, Lymphadenitis, Discoid lupus rash, Osteomyel... |
OMIM:306400 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Eczematoid dermatitis, Recurrent E. coli infections, Lymphadenitis, Discoid lupus rash, Osteomyel... |
OMIM:233690 |
Immunodeficiency 69 |
|
Thrombocytosis, Leukocytosis, BCGosis, Anemia, Splenomegaly, Hepatosplenomegaly, Pancytopenia |
OMIM:618963 |
Premature Ovarian Failure 3 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus |
OMIM:608996 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Increased female libido, Secondary amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Absenc... |
ORPHA:432 |
46,Xy Sex Reversal 7 |
|
Gonadal dysgenesis, male, Sex reversal, Streak ovary, Gonadoblastoma, Hypoplasia of the fallopian... |
OMIM:233420 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypospadias, Adrenal insufficiency, Elevated circulating follicle stimulating hormone level, Urog... |
ORPHA:251510 |
Premature Ovarian Failure 8 |
|
Ovarian neoplasm, Primary amenorrhea, Premature ovarian insufficiency, Increased circulating gona... |
OMIM:615723 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatic steatosis, Hepatomegaly, Hepatic fibrosis, Splenomegaly |
OMIM:614480 |
46,Xx Gonadal Dysgenesis |
|
Secondary amenorrhea, Streak ovary, Aplasia/hypoplasia of the uterus, Increased circulating gonad... |
ORPHA:243 |
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Premature ovarian insufficiency |
ORPHA:75325 |
Complement Component 5 Deficiency |
|
Recurrent meningococcal disease, Generalized seborrheic dermatitis |
OMIM:609536 |
Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Splenomegaly |
OMIM:615947 |
Hemoglobin D Disease |
|
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... |
ORPHA:90039 |
Premature Ovarian Failure 7 |
|
Secondary amenorrhea, Elevated circulating follicle stimulating hormone level, Clitoral hypertrop... |
OMIM:612964 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Recurrent oppo... |
ORPHA:911 |
Immunodeficiency 36 |
|
Recurrent bacterial infections, Recurrent respiratory infections, Decreased circulating antibody ... |
OMIM:616005 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... |
ORPHA:52901 |
Carcinoid Syndrome |
|
Elevated hepatic transaminase, Hepatic necrosis, Abnormal B-type natriuretic peptide level |
ORPHA:100093 |
Tyrosinemia Type 1 |
|
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly |
ORPHA:882 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Recurrent bacterial infections, Increased circulating antibody level |
OMIM:202700 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome |
|
Hypospadias, Abnormal vagina morphology, Streak ovary, Gonadoblastoma, Abnormality of the uterus,... |
OMIM:194072 |
Frasier Syndrome |
|
Gonadal dysgenesis with female appearance, male, Streak ovary, Gonadoblastoma, Increased circulat... |
ORPHA:347 |
Niemann-Pick Disease, Type B |
|
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Recurrent respiratory infections, Sea-blue hi... |
OMIM:607616 |
Premature Ovarian Failure 16 |
|
Reduced antral follicle count, Decreased serum estradiol, Elevated circulating follicle stimulati... |
OMIM:618723 |
Ovarian Fibroma |
|
Abnormality of the ovary, Gonadal calcification, Ovarian fibroma, Peritonitis |
ORPHA:314473 |
Leydig Cell Hypoplasia |
|
Hypospadias, Secondary amenorrhea, Aplasia of the uterus, Abnormal external genitalia, Micropenis... |
ORPHA:755 |
Portal Hypertension, Noncirrhotic, 1 |
|
Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:617068 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatic steatosis, Fulminant hepatic failure, Hepatic necrosis |
OMIM:231530 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Recurrent bacterial infections, Lymphadenitis, Decreased circulating IgA level, Decreased circula... |
ORPHA:331206 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased B cell count, Hepatomegaly, Decreased proportion of class-switched memory B cells, Medi... |
OMIM:615559 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypogonadotropic hypogonadism, Hypoplasia of the ovary, Secondary growth hormone deficiency, Abse... |
ORPHA:2235 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Recurrent bacterial infections, Sepsis, Pneumonia, Chronic otitis media, Recurrent fungal infecti... |
ORPHA:169090 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Recurrent bacterial infections, Leukocytosis, Hepatomegaly, Sepsis, Anemia, Abnormality of the ly... |
OMIM:612840 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Anemia of inadequate production, Cholelithiasis, Splenomegaly, Reticulocytosis, Jaundice |
OMIM:224100 |
Satoyoshi Syndrome |
|
Abnormality of the ovary, Amenorrhea, Hypoplasia of the ovary, Abnormality of the uterus, Nephrog... |
ORPHA:3130 |
Mast Cell Sarcoma |
|
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Mastocytosis |
ORPHA:66661 |
Rothmund-Thomson Syndrome, Type 1 |
|
Hypothyroidism, Recurrent otitis media, Male hypogonadism, Premature ovarian insufficiency |
OMIM:618625 |
Leukocyte Adhesion Deficiency, Type I |
|
Recurrent bacterial infections, Osteomyelitis, Periodontitis, Recurrent staphylococcal infections... |
OMIM:116920 |
Sandhoff Disease |
|
Hepatomegaly, Recurrent respiratory infections, Splenomegaly |
ORPHA:796 |
Purine Nucleoside Phosphorylase Deficiency |
|
Sinusitis, Recurrent bacterial infections, Recurrent opportunistic infections, Pneumonia, Impaire... |
OMIM:613179 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Lymphadenopathy, Chronic oral candidiasis... |
OMIM:150550 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Hyperammonemia, Decreased liver... |
ORPHA:26791 |
46,Xy Complete Gonadal Dysgenesis |
|
Testicular dysgenesis, Hypogonadotropic hypogonadism, Polycystic ovaries, Male pseudohermaphroditism |
ORPHA:242 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Recurrent bacterial infections, Psoriasiform dermatitis, Eczema, Severe varicella zoster infectio... |
OMIM:606367 |
Felty Syndrome |
|
Neutropenia, Splenomegaly |
OMIM:134750 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Lymphadenopathy, Anemia, Splenomegaly, Hepatosplenomegaly, Recurrent upper respiratory tract infe... |
OMIM:613101 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly |
ORPHA:228312 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Reticulocytosis, Anemia of inadequate ... |
OMIM:613673 |
Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis |
OMIM:271500 |
Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly |
OMIM:607685 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Pneumonia, Rec... |
ORPHA:486 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
B lymphocytopenia, Sepsis, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T ... |
ORPHA:231154 |
Leigh Syndrome |
|
Hepatocellular necrosis |
OMIM:256000 |
Immunodeficiency, Common Variable, 7 |
|
Recurrent urinary tract infections, Recurrent respiratory infections, Recurrent infections, Splen... |
OMIM:614699 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Testicular microlithiasis, Secondary amenorrhea, Abnormality of the Leydig cells, Androgen insuff... |
OMIM:228300 |
46,Xx Ovotesticular Disorder Of Sex Development |
|
Hypospadias, True hermaphroditism, Bifid scrotum, Abnormal morphology of female internal genitali... |
ORPHA:2138 |
Omenn Syndrome |
|
Recurrent bacterial infections, Hepatomegaly, B lymphocytopenia, Lymphadenopathy, Recurrent funga... |
OMIM:603554 |
Follicular Lymphoma |
|
Mediastinal lymphadenopathy, Lymphadenopathy, Abnormality of the peritoneum, Splenomegaly, Mening... |
ORPHA:545 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hepatomegaly, Splenomegaly |
OMIM:618541 |
Immunodeficiency 64 |
|
Abnormal CD4:CD8 ratio, Mediastinal lymphadenopathy, Lymphadenopathy, Recurrent infections, Recur... |
OMIM:618534 |
Pfapa Syndrome |
|
Hepatomegaly, Infectious encephalitis, Lymphadenopathy, Splenomegaly, Recurrent pharyngitis |
ORPHA:42642 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hepatic steatosis, Elevated circulating glutaric acid concentration, Hepatic peripo... |
OMIM:231680 |
Retinal Dystrophy With Or Without Extraocular Anomalies |
|
Secondary amenorrhea, Goiter, Premature ovarian insufficiency |
OMIM:617175 |
Alpha-Thalassemia |
|
Anemia, Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemo... |
ORPHA:846 |
Müllerian Aplasia And Hyperandrogenism |
|
Abnormality of the ovary, Abnormal vagina morphology, Increased serum testosterone level, Acne, P... |
ORPHA:247768 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Recurrent bacterial infections |
OMIM:610738 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Neutropenia, Infectious encephalitis, Lymphadenopathy, Fulminant hepatitis, Splenom... |
OMIM:308240 |
Hepatocellular Carcinoma |
|
Hepatomegaly, Hyponatremia, Hypercalcemia, Hemobilia, Hypokalemia, Hepatic necrosis, Hyperbilirub... |
ORPHA:88673 |
Pgm3-Cdg |
|
Sepsis, Eczema, Chronic otitis media, Recurrent infections, Reduced antigen-specific T cell proli... |
ORPHA:443811 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Hypochromia, Anemia, Splenomegaly, Poikilocytosis, Decreased mean corpuscular volume |
OMIM:615234 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Hepatitis, Recurrent infections, Splenomegaly, Pancytopenia, Recurrent respiratory ... |
OMIM:300635 |
Cryohydrocytosis |
|
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Splenomegaly |
OMIM:185020 |
Spherocytosis, Type 5 |
|
Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice |
OMIM:612690 |
Premature Ovarian Failure 17 |
|
Decreased antimullerian hormone level, Elevated circulating follicle stimulating hormone level, D... |
OMIM:619146 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Decreased proportion of class-switched memory B cells, Decreased proportion of marg... |
OMIM:619375 |
Tetragametic Chimerism |
|
Gonadal dysgenesis with female appearance, male, Abnormality of the ovary, True hermaphroditism, ... |
ORPHA:199310 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal macrophage morphology, ... |
ORPHA:2585 |
Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Ascites, Hepatocellular carcinoma, Recurrent infections, Nodular regenerative hyper... |
OMIM:619463 |
Gaucher Disease Type 2 |
|
Hepatomegaly, Recurrent respiratory infections, Splenomegaly |
ORPHA:77260 |
Immunodeficiency 21 |
|
Recurrent fungal infections, Recurrent viral infections, Recurrent mycobacterium avium complex in... |
OMIM:614172 |
Galactose Epimerase Deficiency |
|
Jaundice, Hepatomegaly, Splenomegaly |
ORPHA:79238 |
Neonatal Severe Primary Hyperparathyroidism |
|
Hepatomegaly, Splenomegaly |
ORPHA:417 |
Diethylstilbestrol Syndrome |
|
Hypospadias, Testicular dysgenesis, Decreased fertility in females, Abnormal reproductive system ... |
ORPHA:1916 |
Aromatase Deficiency |
|
Female pseudohermaphroditism, Primary amenorrhea, Ovarian cyst, Hypergonadotropic hypogonadism |
OMIM:613546 |
Galactosemia Iii |
|
Jaundice, Hepatomegaly, Splenomegaly |
OMIM:230350 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Infertility, Streak ovary, Aplasia/hypoplasia of the uterus, Absence of secondary sex characteris... |
ORPHA:2232 |
Thrombocythemia 1 |
|
Thrombocytosis, Splenomegaly |
OMIM:187950 |
X-Linked Lymphoproliferative Disease |
|
Decreased circulating IgA level, Increased circulating IgA level, Decreased circulating IgG level... |
ORPHA:2442 |
Specific Granule Deficiency 2 |
|
Recurrent bacterial infections, Sepsis, Recurrent otitis media, Recurrent pneumonia |
OMIM:617475 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocyto... |
OMIM:603552 |
Macrocephaly/Autism Syndrome |
|
Hepatomegaly, Recurrent infections, Lymphopenia, Splenomegaly |
OMIM:605309 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Jaundice, Anisocytosis, Poikilocytosis... |
OMIM:615631 |
Nephronophthisis 19 |
|
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Splenomegaly, Cholestasis |
OMIM:616217 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Anemia, Splenomegaly |
ORPHA:100024 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:86893 |
Immunodeficiency 23 |
|
Eczema, Allergic rhinitis, Severe varicella zoster infection, Bronchiectasis, Increased circulati... |
OMIM:615816 |
Erythrocytosis, Familial, 8 |
|
Normocytic anemia, Polycythemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocyti... |
OMIM:222800 |
Leukocyte Adhesion Deficiency |
|
Sinusitis, Sepsis, Recurrent aphthous stomatitis, Recurrent staphylococcal infections, Impaired p... |
ORPHA:2968 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly |
OMIM:617441 |
Acquired Idiopathic Sideroblastic Anemia |
|
Leukocytosis, Hepatomegaly, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythro... |
ORPHA:75564 |
Idiopathic Bronchiectasis |
|
Recurrent Haemophilus influenzae infections, Recurrent lower respiratory tract infections, Acute ... |
ORPHA:60033 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Sinusitis, Recurrent bacterial infections, Pneumonia, Decreased circulating IgA level, Recurrent ... |
OMIM:102700 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Erythroid hyperplasia, Anemia, Sp... |
OMIM:616860 |
Postinfectious Vasculitis |
|
Severe varicella zoster infection, Recurrent candida infections, Inflammatory abnormality of the ... |
ORPHA:48435 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Hypospadias, Bifid scrotum, Ambiguous genitalia, female, Urogenital sinus anomaly, Ambiguous geni... |
ORPHA:1772 |
Whim Syndrome |
|
Sinusitis, Sepsis, Recurrent bacterial infections, Pneumonia, Bronchiectasis, Lymphadenitis, Decr... |
ORPHA:51636 |
Gray Platelet Syndrome |
|
Thrombocytopenia, Splenomegaly |
ORPHA:721 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormal... |
ORPHA:79301 |
Immunodeficiency 54 |
|
Hepatomegaly, Lymphadenopathy, Recurrent viral infections, Splenomegaly, Reduced natural killer c... |
OMIM:609981 |
Spondylometaphyseal Dysplasia, Axial |
|
Recurrent pneumonia, Splenomegaly |
OMIM:602271 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Erythroid hyperplasia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, Prolonged neo... |
OMIM:224120 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Ascites, Lymphadenopathy, Anemia, Splenomegaly |
ORPHA:100025 |
Caspase 8 Deficiency |
|
Recurrent herpes, Lymphadenopathy, Recurrent sinopulmonary infections, Splenomegaly, Decreased CD... |
OMIM:607271 |
Poikiloderma With Neutropenia |
|
Neutropenia, Recurrent otitis media, Splenomegaly, Recurrent pneumonia, Recurrent sinusitis |
OMIM:604173 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin |
ORPHA:231401 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia, Jaundice |
OMIM:185000 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegal... |
OMIM:616689 |
Immunodeficiency 10 |
|
Recurrent bacterial infections, Recurrent infections |
OMIM:612783 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Hypospadias, Increased circulating progesterone, Aplasia of the uterus, Bifid scrotum, Elevated c... |
ORPHA:90793 |
Ghosal Hematodiaphyseal Dysplasia |
|
Anemia, Splenomegaly |
ORPHA:1802 |
Elliptocytosis 1 |
|
Jaundice, Hemolytic anemia, Elliptocytosis, Splenomegaly |
OMIM:611804 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Pancytopenia, Splenomegaly |
OMIM:614979 |
Functioning Gonadotropic Adenoma |
|
Oligospermia, Abnormal prolactin level, Increased serum testosterone level, Abnormality of the me... |
ORPHA:91348 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Anemia, Splenomegaly, Hypersplenism, Thrombocytopenia |
OMIM:610539 |
Spherocytosis, Type 4 |
|
Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice |
OMIM:612653 |
Hemoglobin E Disease |
|
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... |
ORPHA:2133 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Cholestasis, Biliary cirrhosis, Portal hypertension, Scler... |
OMIM:617394 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hepatic fibrosis, Splenomegaly, Cholestasis, Hepatic bridging fibrosis, Jaundice |
OMIM:619658 |
Hemochromatosis, Type 2B |
|
Hepatomegaly, Hepatic fibrosis, Anemia, Splenomegaly, Cirrhosis |
OMIM:613313 |
Bardet-Biedl Syndrome |
|
Hypogonadism, Cryptorchidism, Hypoplasia of penis, Hypoplasia of the ovary |
ORPHA:110 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Anemia, Splenomegaly, Anisoc... |
ORPHA:766 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocytic hemolytic an... |
OMIM:235700 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Jaundice |
OMIM:214900 |
Babesiosis |
|
Hepatomegaly, Leukopenia, Recurrent infections, Splenomegaly, Recurrent pharyngitis, Thrombocytop... |
ORPHA:108 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Hepatic fibrosis, Splenomegaly |
OMIM:616719 |
Hypocomplementemic Urticarial Vasculitis |
|
Recurrent bacterial infections, Episcleritis, Arthritis, Meningitis, Uveitis, Inflammatory abnorm... |
ORPHA:36412 |
Progressive Familial Intrahepatic Cholestasis |
|
Jaundice, Hepatomegaly, Cholestasis, Splenomegaly |
ORPHA:172 |
Spherocytosis, Type 1 |
|
Cholelithiasis, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice |
OMIM:182900 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Lymphadenopathy, Lymphadenitis, Recurrent infections, Onychomycosis, Splenomegaly, Hepatosplenome... |
OMIM:618935 |
Amyloidosis, Familial Visceral |
|
Hepatomegaly, Cholestasis, Splenomegaly |
OMIM:105200 |
Spherocytosis, Type 2 |
|
Acanthocytosis, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice |
OMIM:616649 |
Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... |
ORPHA:3203 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Iron deficiency anemia, Splenomegaly, Portal hyp... |
OMIM:616278 |
Hodgkin Lymphoma |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:98293 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
Recurrent bacterial infections, Psoriasiform dermatitis, Recurrent aspiration pneumonia, Decrease... |
ORPHA:221139 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Sepsis, Lymphadenopathy, Recurrent lower respiratory tract infections, Splenomegaly... |
OMIM:616100 |
Felty Syndrome |
|
Hepatomegaly, Sepsis, Neutropenia, Lymphadenopathy, Abnormal lymphocyte morphology, Bone marrow h... |
ORPHA:47612 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Increased serum testosterone level, Premature adrenarche, Ambiguous genitalia, female, Isosexual ... |
ORPHA:90795 |
Vici Syndrome |
|
Recurrent bacterial infections, Recurrent fungal infections, Cutaneous anergy, Decreased circulat... |
OMIM:242840 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Leukopenia, Lymphadenopathy, Anemia, Recurrent infections, Splenomegaly, Autoimmune... |
OMIM:613011 |
Fish-Eye Disease |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:79292 |
Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly |
OMIM:615085 |
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypospadias, Elevated circulating follicle stimulating hormone level, Ambiguous genitalia, male, ... |
ORPHA:90796 |
Acute Liver Failure |
|
Hepatocellular necrosis, Hepatitis, Hepatic necrosis, Hyperammonemia, Elevated hepatic transamina... |
ORPHA:90062 |
Non-Functioning Pituitary Adenoma |
|
Adrenal insufficiency, Increased serum testosterone level, Abnormality of the menstrual cycle, De... |
ORPHA:91349 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Hepatomegaly, Portal fibrosis, Bile duct proliferation, Splenomegaly, Cirrhosis, Intrahepatic cho... |
OMIM:602347 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Cholestatic liver disease, Hepatosplenomegaly, Prolonged n... |
OMIM:616828 |
Prolactinoma |
|
Abnormality of the menstrual cycle, Decreased female libido, Abnormality of the pituitary gland, ... |
ORPHA:2965 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Recurrent infection of the gastrointestinal tract, Hepatomegaly, Splenomegaly, Cirrhosis, Recurre... |
OMIM:613489 |
Chronic Myeloid Leukemia |
|
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... |
ORPHA:521 |
Hepatoportal Sclerosis |
|
Hepatocellular carcinoma, Ascites, Leukopenia, Anemia, Recurrent infections, Nodular regenerative... |
ORPHA:64743 |
Immunodeficiency 27A |
|
Leukocytosis, Enlarged mesenteric lymph node, Thrombocytosis, Lymphadenopathy, Anemia, Splenomega... |
OMIM:209950 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... |
OMIM:619313 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Chronic active hepatitis, Hypoparathyroidism, Adrenal insufficiency, Decreased circulating aldost... |
OMIM:240300 |
Woodhouse-Sakati Syndrome |
|
Streak ovary, Insulin-resistant diabetes mellitus, Hypoplasia of the fallopian tube, Decreased se... |
ORPHA:3464 |
Osteopetrosis, Autosomal Recessive 4 |
|
Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Thrombocytopenia |
OMIM:611490 |
Dysplastic Cortical Hyperostosis |
|
Hepatomegaly, Splenomegaly |
ORPHA:2204 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, F... |
OMIM:601859 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Splenomegaly |
OMIM:612526 |
X-Linked Sideroblastic Anemia |
|
Anemia, Splenomegaly |
ORPHA:75563 |
Cholesteryl Ester Storage Disease |
|
Cirrhosis, Hepatomegaly, Jaundice, Splenomegaly |
ORPHA:75234 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Secondary amenorrhea, Lacrimal gland aplasia, Oligomenorrhea, Streak ovary, Elevated circulating ... |
ORPHA:572333 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Leukocytosis, Hepatomegaly, Acute leukemia, Lymphadenopathy, Bone marrow hypocellularity, Splenom... |
ORPHA:3226 |
Hypoplasminogenemia |
|
Periodontitis, Abnormality of the ovary, Abnormal fallopian tube morphology, Cervicitis |
ORPHA:722 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Decreased platelet glycoprotein Ib, Recurrent bacterial infections |
OMIM:603585 |
Indolent Systemic Mastocytosis |
|
Hepatomegaly, Lymphadenopathy, Abnormal mast cell morphology, Splenomegaly, Increased proportion ... |
ORPHA:98848 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Acholic stools, Biliary tract abnormality, Abnormality of the lymphatic system, Spl... |
ORPHA:1414 |
Hemophagocytic Syndrome Associated With An Infection |
|
Hepatomegaly, Chronic active Epstein-Barr virus infection, Neutropenia, Anemia, Splenomegaly, Sev... |
ORPHA:158048 |
Hermansky-Pudlak Syndrome 2 |
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Recurrent bacterial infections, Reduced natural killer cell activity, Chronic oral candidiasis, R... |
OMIM:608233 |
Polycythemia Vera |
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Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... |
OMIM:263300 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
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Pigment gallstones, Cholelithiasis, Splenomegaly, Impaired neutrophil bactericidal activity, Nons... |
OMIM:613470 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
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Spherocytosis, Splenomegaly |
ORPHA:66518 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
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Reticulocytosis, Thrombocytopenia, Hemolytic anemia, Splenomegaly |
OMIM:314050 |
Schnitzler Syndrome |
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Leukocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly |
ORPHA:37748 |
Ornithine Transcarbamylase Deficiency |
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Splenomegaly |
ORPHA:664 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
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Hepatomegaly, Hepatocellular necrosis |
OMIM:618278 |
Sea-Blue Histiocytosis |
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Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis |
ORPHA:158029 |
Solute carrier family 4 (anion exchanger), member 1 |
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Hemolytic anemia, Acanthocytosis, Stomatocytosis, Splenomegaly, Jaundice, Reticulocytosis, Sphero... |
OMIM:109270 |
Gamma-Heavy Chain Disease |
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Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Autoimmune t... |
ORPHA:100026 |
Harderoporphyria |
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Hepatomegaly, Splenomegaly, Reticulocytosis, Prolonged neonatal jaundice, Hemolytic anemia |
OMIM:618892 |
Sickle Cell Anemia |
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Recurrent bacterial infections, Leukocytosis, Hepatomegaly, Cardiomegaly, Cholelithiasis, Splenom... |
OMIM:603903 |
Burkitt Lymphoma |
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Abnormality of the ovary |
ORPHA:543 |
Pyruvate Kinase Deficiency Of Red Cells |
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Cholelithiasis, Splenomegaly, Chronic hemolytic anemia, Cholecystitis, Reticulocytosis, Jaundice |
OMIM:266200 |
Beta-Thalassemia |
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Hepatomegaly, Hepatitis, Abnormal hemoglobin, Anemia, Cholelithiasis, Splenomegaly, Microcytic an... |
ORPHA:848 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
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Increased circulating progesterone, Aplasia of the uterus, Increased serum testosterone level, Fu... |
ORPHA:90794 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
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Hepatomegaly, Recurrent candida infections, Splenomegaly |
OMIM:201100 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
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Acute lymphoblastic leukemia, Neutropenia, Hepatocellular carcinoma, Anemia, Splenomegaly, Acute ... |
ORPHA:158057 |
Cold Agglutinin Disease |
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Lymphadenopathy, Hepatomegaly, Hemolytic anemia, Splenomegaly |
ORPHA:56425 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
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Hepatomegaly, Splenomegaly, Cholestasis, Portal hypertension, Jaundice |
ORPHA:59303 |
Chronic Granulomatous Disease |
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Hepatomegaly, Sepsis, Mediastinal lymphadenopathy, Splenomegaly, Meningitis, Recurrent respirator... |
ORPHA:379 |
Griscelli Syndrome Type 2 |
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Hepatomegaly, Neutropenia, Lymphadenopathy, Splenomegaly, Pancytopenia, Hemophagocytosis, Jaundice |
ORPHA:79477 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
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Hepatomegaly, Increased red cell hemolysis by shear stress, Hepatitis, Cholelithiasis, Splenomega... |
OMIM:194380 |
Primary Myelofibrosis |
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Leukocytosis, Hepatomegaly, Thrombocytosis, Lymphadenopathy, Anemia, Splenomegaly, Hepatosplenome... |
ORPHA:824 |
Bile Acid Synthesis Defect, Congenital, 3 |
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Hepatomegaly, Acholic stools, Hepatitis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis, Jaundice |
OMIM:613812 |
Osteopetrosis, Autosomal Dominant 3 |
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Hepatomegaly, Anemia, Splenomegaly |
OMIM:618107 |
Adult-Onset Still Disease |
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Leukocytosis, Hepatomegaly, Hepatitis, Bone marrow hypocellularity, Splenomegaly, Neutrophilia, G... |
ORPHA:829 |
Hb Bart'S Hydrops Fetalis |
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Hepatomegaly, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
Chédiak-Higashi Syndrome |
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Recurrent bacterial infections, Abnormal platelet function, Recurrent infections, Periodontitis, ... |
ORPHA:167 |
Immunodeficiency 60 And Autoimmunity |
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Recurrent sinopulmonary infections, Splenomegaly, Decreased basophil count, Decreased proportion ... |
OMIM:618394 |
Erythrocytosis, Familial, 1 |
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Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly |
OMIM:133100 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
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Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Cirrhosis, Intrahepatic cholestasis, Interm... |
OMIM:601847 |
Leishmaniasis |
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Hepatomegaly, Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Abnormal macrophage morphology, ... |
ORPHA:507 |
Primary Ciliary Dyskinesia |
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Bronchiectasis, Chronic otitis media, Chronic rhinitis, Recurrent sinopulmonary infections, Chron... |
ORPHA:244 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
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Chronic neutropenia, B lymphocytopenia, Sepsis, Decreased proportion of class-switched memory B c... |
OMIM:614700 |
Myelofibrosis |
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Myeloproliferative disorder, Splenomegaly |
OMIM:254450 |
Chromomycosis |
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Keratoconjunctivitis sicca, Recurrent bacterial infections, Keratitis |
ORPHA:182 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
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Recurrent bacterial infections, Hepatomegaly, Sepsis, Neutropenia, Leukopenia, Monocytosis, Hypop... |
OMIM:612541 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
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Increased B cell count, Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-be... |
OMIM:603909 |
Glycogen Storage Disease Xii |
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Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocytic hemolytic an... |
OMIM:611881 |
Ataxia-Telangiectasia |
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Sinusitis, Bronchiectasis, Decreased circulating IgA level, Defective B cell differentiation, Dec... |
OMIM:208900 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
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Hepatomegaly, Anemia, Splenomegaly, Jaundice, Exocrine pancreatic insufficiency, Anemia of inadeq... |
OMIM:612714 |
Wolman Disease |
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Hepatomegaly, Ascites, Bone-marrow foam cells, Anemia, Splenomegaly |
ORPHA:75233 |
Omenn Syndrome |
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Leukocytosis, Hepatomegaly, Sepsis, Lymphadenopathy, Abnormal lymphocyte morphology, Anemia, Sple... |
ORPHA:39041 |
Lysosomal Acid Lipase Deficiency |
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Hepatomegaly, Increased hepatic echogenicity, Hepatic fibrosis, Leukopenia, Bone-marrow foam cell... |
OMIM:278000 |
Griscelli Syndrome |
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Hepatomegaly, Ascites, Leukopenia, Lymphadenopathy, Hepatitis, Bone marrow hypocellularity, Splen... |
ORPHA:381 |
Leopard Syndrome 1 |
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Hypospadias, Hypoplasia of the ovary, Aplasia of the ovary, Micropenis, Cryptorchidism, Delayed m... |
OMIM:151100 |
Niemann-Pick Disease, Type A |
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Hepatomegaly, Ascites, Lymphadenopathy, Bone-marrow foam cells, Splenomegaly, Microcytic anemia, ... |
OMIM:257200 |
Mucopolysaccharidosis, Type Iiia |
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Hepatomegaly, Recurrent upper respiratory tract infections, Splenomegaly |
OMIM:252900 |
Chediak-Higashi Syndrome |
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Recurrent infections, Periodontitis, Impaired neutrophil bactericidal activity, Recurrent bacteri... |
OMIM:214500 |
Mirage Syndrome |
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Recurrent urinary tract infections, Sepsis, Recurrent bacterial infections, Aspiration pneumonia |
OMIM:617053 |
Glycogen Storage Disease Ixc |
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Hepatomegaly, Increased hepatic glycogen content, Bile duct proliferation, Splenomegaly, Cirrhosis |
OMIM:613027 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
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Hepatomegaly, Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jau... |
OMIM:211600 |
Mucopolysaccharidosis, Type Iiib |
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Hepatomegaly, Recurrent upper respiratory tract infections, Cardiomegaly, Splenomegaly |
OMIM:252920 |
Prolidase Deficiency |
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Hepatomegaly, Anemia, Recurrent infections, Splenomegaly, Recurrent pneumonia, Prolonged neonatal... |
OMIM:170100 |
Bile Acid Synthesis Defect, Congenital, 2 |
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Intrahepatic cholestasis, Hepatomegaly, Jaundice, Splenomegaly |
OMIM:235555 |
Immunodeficiency 47 |
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Recurrent bacterial infections, Decreased circulating total IgA, Decreased circulating total IgG,... |
OMIM:300972 |
Budd-Chiari Syndrome |
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Hepatomegaly, Ascites, Peritonitis, Splenomegaly, Cirrhosis, Cholecystitis, Portal hypertension, ... |
ORPHA:131 |
Systemic-Onset Juvenile Idiopathic Arthritis |
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Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:85414 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
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Leukocytosis, Heinz bodies, Splenomegaly, Fava bean-induced hemolytic anemia, Anisocytosis, Poiki... |
OMIM:300908 |
Lissencephaly Syndrome, Norman-Roberts Type |
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Hypoplastic spleen |
ORPHA:89844 |
Shwachman-Diamond Syndrome |
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Sinusitis, Sepsis, Eczema, Recurrent bacterial infections, Pneumonia, Recurrent viral infections,... |
ORPHA:811 |
Genitourinary And/Or Brain Malformation Syndrome |
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Hypospadias, Streak ovary, Chordee, Uterus didelphys, Urogenital sinus anomaly, Clitoral hypertro... |
OMIM:618820 |
Hurler-Scheie Syndrome |
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Hepatomegaly, Recurrent respiratory infections, Splenomegaly |
OMIM:607015 |
Bile Acid Synthesis Defect, Congenital, 1 |
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Hepatomegaly, Giant cell hepatitis, Acholic stools, Splenomegaly, Cirrhosis, Intrahepatic cholest... |
OMIM:607765 |
Beta-Thalassemia Intermedia |
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Leukocytosis, Hepatomegaly, Elevated hepatic iron concentration, Hepatocellular carcinoma, Erythr... |
ORPHA:231222 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
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Pancytopenia, Hemophagocytosis, Anemia, Splenomegaly |
OMIM:618398 |
Mannosidosis, Alpha B, Lysosomal |
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Recurrent bacterial infections, Decreased circulating antibody level |
OMIM:248500 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
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Lymphadenopathy, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly |
OMIM:619183 |
Drug-Induced Autoimmune Hemolytic Anemia |
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Autoimmune hemolytic anemia, Splenomegaly |
ORPHA:90037 |
Kenny-Caffey Syndrome, Type 1 |
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Recurrent bacterial infections |
OMIM:244460 |
Dehydrated Hereditary Stomatocytosis |
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Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... |
ORPHA:3202 |
Acute Panmyelosis With Myelofibrosis |
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Acute myelomonocytic leukemia, Bone marrow hypocellularity, Splenomegaly, Acute myeloid leukemia,... |
ORPHA:86843 |
Hyper-Igd Syndrome |
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Leukocytosis, Lymphadenopathy, Lymphadenitis, Chronic oral candidiasis, Recurrent infections, Spl... |
OMIM:260920 |
Hereditary Elliptocytosis |
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Congenital hemolytic anemia, Stomatocytosis, Cholelithiasis, Splenomegaly, Jaundice, Poikilocytos... |
ORPHA:288 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
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Recurrent bacterial infections |
OMIM:241410 |
Bardet-Biedl Syndrome 1 |
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Abnormality of the ovary, Hypogonadism, Vaginal atresia, Micropenis, Nephrogenic diabetes insipid... |
OMIM:209900 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
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Oligospermia, Hypospadias, Adrenal hyperplasia, Increased circulating progesterone, Fused labia m... |
ORPHA:95699 |
Glycogen Storage Disease Ib |
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Recurrent bacterial infections, Gout, Pancreatitis |
OMIM:232220 |
Infantile Liver Failure Syndrome 3 |
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Hepatomegaly, Splenomegaly, Hepatic steatosis, Cholestasis, Hepatic bridging fibrosis, Jaundice |
OMIM:618641 |
Macrophage Activation Syndrome |
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Hepatomegaly, Neutropenia, Lymphadenopathy, Hepatitis, Anemia, Splenomegaly, Thrombocytopenia, He... |
ORPHA:158061 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
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Hepatomegaly, Lymphadenopathy, Anemia, Recurrent infections, Splenomegaly, Lymphopenia, Thrombocy... |
OMIM:617591 |
Dominant Beta-Thalassemia |
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Chronic infection, Hepatic fibrosis, Hypochromic microcytic anemia, Hepatocellular carcinoma, Spl... |
ORPHA:231226 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
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Hepatomegaly, Infectious encephalitis, Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Meningi... |
OMIM:603553 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
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Hepatomegaly, Pancreatic hypoplasia, Hepatic fibrosis, Pancreatic cysts, Splenic cyst, Hepatitis,... |
OMIM:610199 |
Beta-Thalassemia Major |
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Hepatomegaly, Chronic infection, Anisopoikilocytosis, Hepatic fibrosis, Hypochromic microcytic an... |
ORPHA:231214 |
Caroli Disease |
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Cholangitis, Leukocytosis, Hepatomegaly, Cholangiocarcinoma, Hepatic fibrosis, Ascites, Cholelith... |
ORPHA:53035 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
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Hepatomegaly, Pancreatic cysts, Hepatic cysts, Splenomegaly, Portal hypertension, Periportal fibr... |
OMIM:263200 |
Alg9-Cdg |
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Bicornuate uterus, Hypoplastic nipples, Hypoplasia of the ovary |
ORPHA:79328 |
Apolipoprotein C-Ii Deficiency |
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Hepatomegaly, Pancreatitis, Splenomegaly |
OMIM:207750 |
Sitosterolemia 1 |
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Stomatocytosis, Episodic hemolytic anemia, Splenomegaly, Abnormality of the liver, Giant platelet... |
OMIM:210250 |
Gaucher Disease, Type I |
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Hepatomegaly, Anemia, Splenomegaly, Hypersplenism, Pancytopenia, Thrombocytopenia |
OMIM:230800 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
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Stomatocytosis, Hemolytic anemia, Increased mean platelet volume, Splenomegaly |
OMIM:153670 |
Gracile Bone Dysplasia |
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Hypoplastic spleen, Asplenia |
OMIM:602361 |
Autoimmune Hemolytic Anemia, Warm Type |
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Jaundice, Chronic lymphatic leukemia, Autoimmune hemolytic anemia, Splenomegaly |
ORPHA:90033 |
Hereditary Spherocytosis |
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Hepatomegaly, Anemia, Cholelithiasis, Splenomegaly, Extramedullary hematopoiesis, Increased mean ... |
ORPHA:822 |
Hereditary Orotic Aciduria |
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Recurrent respiratory infections, Anemia, Splenomegaly |
ORPHA:30 |
Woodhouse-Sakati Syndrome |
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Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Hypoplasia of the fa... |
OMIM:241080 |
Common Variable Immunodeficiency |
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Recurrent bronchitis, Lymphadenopathy, Splenomegaly, Abnormality of the liver, Autoimmune thrombo... |
ORPHA:1572 |
Infantile Systemic Hyalinosis |
|
Recurrent bacterial infections |
ORPHA:2176 |
Immunodeficiency 87 And Autoimmunity |
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Recurrent bacterial infections, Sepsis, Recurrent fungal infections, Recurrent viral infections, ... |
OMIM:619573 |
Glycogen Storage Disease Ii |
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Hepatomegaly, Recurrent respiratory infections, Cardiomegaly, Splenomegaly |
OMIM:232300 |
Triosephosphate Isomerase Deficiency |
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Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Chronic hemolytic anemia, C... |
OMIM:615512 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
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Recurrent bacterial infections, Inflammation of the large intestine, Gout, Pancreatitis, Periodon... |
ORPHA:79259 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
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Leukocytosis, Hepatomegaly, Thrombocytosis, Leukopenia, Lymphadenopathy, Recurrent otitis media, ... |
OMIM:615688 |
Gray Platelet Syndrome |
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Thrombocytopenia, Abnormal number of alpha granules, Splenomegaly |
OMIM:139090 |
Atrial Septal Defect, Coronary Sinus Type |
|
Recurrent bacterial infections, Pneumonia |
ORPHA:99104 |
Hyperlipoproteinemia, Type I |
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Jaundice, Hepatosplenomegaly, Pancreatitis, Splenomegaly |
OMIM:238600 |
Schinzel-Giedion Syndrome |
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Hypospadias, Central hypothyroidism, Streak ovary, Annular pancreas, Micropenis, Recurrent pneumonia |
ORPHA:798 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
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Recurrent bacterial infections, Eczema, Episcleritis, Cheilitis, Recurrent infections, Keratitis,... |
ORPHA:2273 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
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Micropenis, Decreased testicular size, Hypoplasia of the ovary |
OMIM:619321 |
Parenteral Nutrition-Associated Cholestasis |
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Hepatomegaly, Hepatic fibrosis, Cholelithiasis, Splenomegaly, Biliary hyperplasia, Cirrhosis, Hep... |
ORPHA:567983 |
Autosomal Recessive Polycystic Kidney Disease |
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Abnormality of the intrahepatic bile duct, Cholangitis, Cholangiocarcinoma, Hepatic fibrosis, Pan... |
ORPHA:731 |
Lysinuric Protein Intolerance |
|
Recurrent bacterial infections, Tubulointerstitial nephritis, Membranous nephropathy, Decreased c... |
ORPHA:470 |
Pearson Syndrome |
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Hepatomegaly, Neutropenia, Thrombocytopenia, Macronodular cirrhosis, Bone marrow hypocellularity,... |
ORPHA:699 |
Turner Syndrome |
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Abnormality of the ovary, Secondary amenorrhea, Inflammation of the large intestine, Type II diab... |
ORPHA:881 |
Mosaic Monosomy X |
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Abnormality of the ovary, Secondary amenorrhea, Inflammation of the large intestine, Type II diab... |
ORPHA:99228 |
Monosomy X |
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Abnormality of the ovary, Secondary amenorrhea, Inflammation of the large intestine, Type II diab... |
ORPHA:99226 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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Abnormality of the ovary, Secondary amenorrhea, Inflammation of the large intestine, Type II diab... |
ORPHA:99413 |
Isolated Biliary Atresia |
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Hepatomegaly, Acholic stools, Atretic gallbladder, Bile duct proliferation, Splenomegaly, Cirrhos... |
ORPHA:30391 |
Gaucher Disease, Type Iiic |
|
Pancytopenia, Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:231005 |
Atrial Septal Defect, Ostium Secundum Type |
|
Recurrent bacterial infections, Pneumonia |
ORPHA:99103 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyperkalemia, Hyponatremia, Increased circulating interleukin 6, Pancreatitis, Abnormality of che... |
ORPHA:544482 |
Microphthalmia, Syndromic 9 |
|
Hypoplastic spleen, Multilobulated spleen |
OMIM:601186 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Recurrent aspiration pneumonia, Fasciitis, Septic arthritis, Osteomyelitis, Recurrent Staphylococ... |
ORPHA:642 |
Nasopharyngeal Carcinoma, Susceptibility To, 3 |
|
|
OMIM:617075 |