Reticular Dysgenesis |
|
Lack of T cell function, Lymphopenia, Hypoplasia of the thymus, Leukopenia, Congenital agranulocy... |
OMIM:267500 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
Immunodeficiency 24 |
|
Decreased circulating IgG level, Lymphopenia, Defective T cell proliferation, Decreased specific ... |
OMIM:615897 |
Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
Decreased circulating IgG level, B lymphocytopenia, T lymphocytopenia |
OMIM:233650 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Decreased circulating IgG level, T lymphocytopenia |
OMIM:242870 |
Immunodeficiency 18 |
|
Defective T cell proliferation, Lymphopenia, Decreased proportion of CD3-positive T cells |
OMIM:615615 |
Lymphoid System Deterioration, Progressive |
|
Decreased circulating total IgM, Abnormal T cell morphology, Lymphopenia, Decreased circulating I... |
OMIM:247630 |
Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Immunodeficiency 105 |
|
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Hepatosplenomegaly... |
OMIM:619924 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
Cernunnos-Xlf Deficiency |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Anemia, ... |
ORPHA:169079 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Pallor, Anemia |
ORPHA:46532 |
Immunodeficiency 40 |
|
Lymphopenia |
OMIM:616433 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Abnormally low T cell receptor excision circle level, Decreased circulating total IgM, Decreased ... |
OMIM:618987 |
Severe Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgA level, Decreased circulating IgG level, Hypoplasia of the thymus, Decre... |
OMIM:300400 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Splenomegaly, Pancytopenia, Decreased helper T cell proportion, Cutaneous anergy, Hypersplenism |
OMIM:183350 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Abnormal platelet function, Anemia, Thrombocytopenia |
ORPHA:231393 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Immunodeficiency 14A, Autosomal Dominant |
|
Splenomegaly, Decreased specific pneumococcal antibody level, T lymphocytopenia, Decreased propor... |
OMIM:615513 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Hypoplasia of the thymus, Decreased proportion of CD8-positive T cells, Decreased proportion of C... |
OMIM:617241 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia, B lymphocytopenia |
OMIM:616941 |
Immunodeficiency 42 |
|
Hypoplasia of the thymus |
OMIM:616622 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:619707 |
Diamond-Blackfan Anemia 19 |
|
Steroid-responsive anemia, Anemia, Erythroid hypoplasia |
OMIM:618312 |
Transcobalamin Deficiency |
|
Decreased circulating IgA level, Neutropenia, Lymphopenia, Decreased circulating IgG level, Methy... |
ORPHA:859 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased circulating IgA level, Splenomegaly, Decreased specific antibody response to polysaccha... |
OMIM:616452 |
Hemoglobin H Disease |
|
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly |
OMIM:613978 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Pallor, Poikilocytosi... |
OMIM:615234 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating total IgM, Absent circulating B cells, Aga... |
OMIM:613500 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre... |
OMIM:603902 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Increased circulating antibody level, Lymphopenia, Glomerulonephritis, Plasmacytosis, Autoimmune ... |
OMIM:247800 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD8-pos... |
OMIM:619824 |
Transient Erythroblastopenia Of Childhood |
|
Anemia, Transient erythroblastopenia |
OMIM:227050 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... |
OMIM:606843 |
Nephronophthisis |
|
Anemia, Abnormality of retinal pigmentation |
ORPHA:655 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Diamond-Blackfan Anemia 17 |
|
Anemia, Hyperpigmentation of the skin |
OMIM:617409 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:612692 |
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia |
|
Anemia, Intrauterine growth retardation |
ORPHA:2802 |
Hemoglobin E Disease |
|
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
Fetal Cytomegalovirus Syndrome |
|
Anemia, Hepatomegaly, Splenomegaly |
ORPHA:294 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Pallor, Poikil... |
OMIM:615631 |
Hb Bart'S Hydrops Fetalis |
|
Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Pallor, Hydrops fetalis, Pericarditis, Polyhydra... |
ORPHA:163596 |
Immunodeficiency 102 |
|
Increased circulating interleukin 6 concentration, Decreased circulating IgA level, Neutropenia i... |
OMIM:301082 |
Immunodeficiency 50 |
|
Decreased circulating antibody level, Lymphopenia, Neutropenia |
OMIM:300988 |
Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Decreased circulating antibody level, B lymphocytopenia, Pancytopenia |
OMIM:616873 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Granulocytopenia, Hemophagocytosis, Hepatosplenomegaly, Reduced natural killer cell activity, Hyp... |
OMIM:608898 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Decreased specific anti-polysaccharide antibody level, Decreased specific antibody response to pr... |
ORPHA:70593 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Decreased helper T cell proportion, T lymphocytopenia |
OMIM:601705 |
Hyperlysinemia, Type I |
|
Anemia, Ectopia lentis |
OMIM:238700 |
Acute Peripheral Arterial Occlusion |
|
Supraventricular tachycardia, Leukocytosis, Absent ankle pulse, Pallor, Myocardial infarction, Ab... |
ORPHA:90064 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Abnormally low T cell receptor excision circle level, T lymphocytopenia |
OMIM:618806 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Abnormal leukocyte morphology, Pallor, Hemolytic anemia, Splenomegaly |
ORPHA:228312 |
Immunodeficiency 25 |
|
Increased circulating IgA level, Eosinophilia, Increased circulating IgG level, T lymphocytopenia... |
OMIM:610163 |
Acquired Idiopathic Sideroblastic Anemia |
|
Anemia of inadequate production, Granulocytopenia, Neutropenia, Hepatomegaly, Leukocytosis, Splen... |
ORPHA:75564 |
Immunodeficiency, Common Variable, 3 |
|
Decreased circulating IgA level, Reduced isohemagglutinin level, Decreased circulating total IgM,... |
OMIM:613493 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Decreased circulating total IgM, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Congenital Toxoplasmosis |
|
Abnormality of retinal pigmentation, Hepatomegaly, Jaundice, Thrombocytopenia, Elevated hepatic t... |
ORPHA:858 |
Cone-Rod Dystrophy 11 |
|
Macular degeneration, Pallor, Cone/cone-rod dystrophy, Macular atrophy, Bull's eye maculopathy |
OMIM:610381 |
Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Neutrophilia, Leukocytosis, Dec... |
OMIM:619281 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Hepatomegaly, Jaundice, Splenomegaly, Pallor, Decreased hemoglobin concentration,... |
OMIM:266200 |
Peripheral Cone Dystrophy |
|
Pallor, Peripheral retinal degeneration, Cone/cone-rod dystrophy, Optic atrophy, Optic disc pallor |
OMIM:609021 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Microphakia, Abnormality of retinal pigmentation, Lens subluxation, Retinal detachment, Cataract |
ORPHA:171844 |
Anterior Segment Dysgenesis 8 |
|
Microphakia, Ectopia pupillae, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the iris, Ca... |
OMIM:617319 |
Immunodeficiency 70 |
|
Decreased circulating total IgA, Decreased circulating total IgM, B lymphocytopenia, Decreased ci... |
OMIM:618969 |
Immunodeficiency 84 |
|
Perianal abscess, B lymphocytopenia, Splenomegaly |
OMIM:619437 |
Retinohepatoendocrinologic Syndrome |
|
Pallor, Degenerative liver disease, Cone dystrophy, Optic disc pallor, Abnormality of skin pigmen... |
OMIM:268040 |
Immunodeficiency 44 |
|
Decreased circulating total IgM, Decreased circulating IgA level, Lymphopenia, Abnormal circulati... |
OMIM:616636 |
Retinitis Pigmentosa 27 |
|
Rod-cone dystrophy, Pallor, Chorioretinal atrophy, Macular edema, Peripapillary chorioretinal atr... |
OMIM:613750 |
Mu-Heavy Chain Disease |
|
Increased circulating antibody level, Bence Jones Proteinuria, Splenomegaly, Nephropathy, Abnorma... |
ORPHA:100024 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Megaloblastic anemia, Pallor, Paroxysmal atrial tachycardia, Retinal dystrophy, Optic atrophy, Th... |
ORPHA:49827 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Hypereosinophilia, Abnormal n... |
OMIM:212050 |
Immunodeficiency 95 |
|
Decreased circulating IgG3 level, Lymphopenia, Increased circulating IgG3 level |
OMIM:619773 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:613502 |
Congenital Rubella Syndrome |
|
Corneal opacity, Abnormality of retinal pigmentation, Hepatomegaly, Jaundice, Splenomegaly, Aplas... |
ORPHA:290 |
Acute Myelomonocytic Leukemia |
|
Leukocytosis, Pallor, Eosinophilia, Anemia, Thrombocytopenia |
ORPHA:517 |
Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells... |
OMIM:312863 |
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Increased circulating interleukin 6 concentration, Decreased circulating IgG level, Decreased cir... |
OMIM:618944 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
X-Linked Sideroblastic Anemia |
|
Splenomegaly, Pallor, Elevated hepatic transaminase, Hyperpigmentation of the skin, Anemia |
ORPHA:75563 |
Immunodeficiency 15A |
|
Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of CD4-posi... |
OMIM:618204 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:300448 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lack of T cell function, Lymphopenia, B lymphocytopenia, Abnormality of humoral immunity, T lymph... |
ORPHA:277 |
Immunoglobulin A Deficiency 2 |
|
Decreased circulating IgA level, Abnormal lymphocyte morphology |
OMIM:609529 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Increased circulating antibody level, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neu... |
OMIM:615285 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Decreased circulat... |
OMIM:619510 |
Retinitis Pigmentosa 42 |
|
Pallor, Rod-cone dystrophy |
OMIM:612943 |
Immunodeficiency, Common Variable, 14 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:617765 |
Immunodeficiency 76 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Splenomegaly |
OMIM:619164 |
Beta-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Pal... |
ORPHA:848 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Panhypogammaglobulinemia, B lymphocytopenia, T lymphocytopenia |
OMIM:601457 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Decreased lymphocyte proliferation in response to anti-CD3, Hypoplasia of the thymus, B lymphocyt... |
OMIM:619313 |
Immunodeficiency 57 With Autoinflammation |
|
B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Perianal abscess, Par... |
OMIM:618108 |
Oculoauricular Syndrome |
|
Microphakia, Rod-cone dystrophy, Retinal coloboma, Morning glory anomaly, Macular hypoplasia, Ret... |
OMIM:612109 |
Microspherophakia-Metaphyseal Dysplasia |
|
Microspherophakia, Retinal detachment, Lens subluxation, Lens coloboma |
OMIM:157151 |
Immunodeficiency, Common Variable, 1 |
|
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... |
OMIM:607594 |
Caspase 8 Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level, Reduced CD95-induced lymphocyte... |
OMIM:607271 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Increased circulating antibody level, Decreased lymphocyte proliferation in response to mitogen, ... |
ORPHA:169154 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Lymphopenia, Absent specific antibody response, Autoimmune thrombocytopenia, Decreased proportion... |
OMIM:619846 |
Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Reticulocytosis, Anemia |
OMIM:613977 |
Immunodeficiency 64 |
|
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgG level, Incre... |
OMIM:618534 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Hypochromia, Decreased mean corpuscular volume, Anemia, Abnormality of the liver |
OMIM:206100 |
Fetal Parvovirus Syndrome |
|
Hypertrophic cardiomyopathy, Hydrops fetalis, Thrombocytopenia, Anemia, Ascites, Intrauterine gro... |
ORPHA:295 |
Retinitis Pigmentosa 60 |
|
Pallor, Rod-cone dystrophy |
OMIM:613983 |
Breath-Holding Spells |
|
Pallor, Iron deficiency anemia |
OMIM:607578 |
Immunodeficiency 13 |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Neutropenia |
OMIM:610798 |
Immunodeficiency 72 With Autoinflammation |
|
Hepatosplenomegaly, Increased circulating IgG level, Increased B cell count, Increased circulatin... |
OMIM:618982 |
Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Thrombocytopenia, Defective T cell proliferation, R... |
OMIM:614493 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Decreased mean corpuscular volume, Photoreceptor layer loss on macular OCT, Pallor, Anisocytosis,... |
OMIM:616959 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased circulating IgG level, Decreased circulating total IgM, B lymphocytopenia, Decreased pr... |
OMIM:619705 |
Retinitis Pigmentosa 70 |
|
Pallor, Optic disc pallor, Retinal degeneration, Rod-cone dystrophy |
OMIM:615922 |
Omenn Syndrome |
|
Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B lymphocytopenia... |
OMIM:603554 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Abnormal fundus autofluorescence imaging, Subretinal deposits, Yellow/white lesions of the macula... |
ORPHA:59181 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... |
ORPHA:231154 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Increased circulating antibody level, Acute monocytic leukemia, Eosinophilia, Monocytosis, Congen... |
OMIM:202700 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia |
ORPHA:231401 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:611926 |
Familial Drusen |
|
Perifoveal ring of hyperautofluorescence, Granular macular appearance, Abnormality of retinal pig... |
ORPHA:75376 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Megaloblastic anemia, Hepatomegaly, Pallor, Pancytopenia, Thrombocytopenia, Jaundice |
OMIM:613839 |
Retinitis Pigmentosa 36 |
|
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... |
OMIM:610599 |
Central Areolar Choroidal Dystrophy |
|
Perifoveal ring of hyperautofluorescence, Full-thickness macular hole, Absent retinal pigment epi... |
ORPHA:75377 |
Choroideremia |
|
Granular macular appearance, Choroideremia, Retinal pigment epithelial mottling, Chorioretinal at... |
OMIM:303100 |
Choroidal Dystrophy, Central Areolar, 1 |
|
Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy |
OMIM:215500 |
Zika Virus Disease |
|
Miscarriage, Lens subluxation, Conjunctivitis, Absent foveal reflex, Retinal pigment epithelial m... |
ORPHA:448237 |
Autoimmune Lymphoproliferative Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos... |
OMIM:601859 |
Immunodeficiency 81 |
|
Impaired collagen-induced platelet aggregation, Abnormally low T cell receptor excision circle le... |
OMIM:619374 |
Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Bone ma... |
OMIM:618849 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly,... |
ORPHA:231222 |
Alpha-Thalassemia |
|
Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, Hypersplenism |
ORPHA:846 |
Primary Myelofibrosis |
|
Petechiae, Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Pallor, Hepato... |
ORPHA:824 |
Immunodeficiency 36 |
|
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Splenomegaly, B ly... |
OMIM:616005 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Hypochromic anemia, Pallor, Pappenheimer bodies, Microcytic anemia, Sideroblastic anemia, Erythro... |
OMIM:600462 |
Optic Atrophy 9 |
|
Optic atrophy, Pallor |
OMIM:616289 |
Immunodeficiency 104 |
|
T lymphocytopenia, Splenomegaly |
OMIM:608971 |
Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Pigmentary retinopathy, Neutropenia |
OMIM:266130 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Pallor, Myeloproliferative disorder, Intracranial hemor... |
ORPHA:3226 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Decreased lymphocyte proliferation in response to anti-CD3, Neutropenia, Lymphopenia, Decreased c... |
OMIM:618986 |
Persistent Placoid Maculopathy |
|
Abnormal macular morphology, Choroidal neovascularization, Retinal pigment epithelial mottling, H... |
ORPHA:97341 |
Evans Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Petechiae, Jaundice, Pallor, Autoimmune thr... |
ORPHA:1959 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Anemia, Hepatosplenomegaly, Cataract, Neonatal death |
OMIM:273680 |
Microspherophakia With Hernia |
|
Microspherophakia, Superior lens subluxation, Retinal detachment |
OMIM:157150 |
Congenital Primary Aphakia |
|
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Microphthalmia,... |
ORPHA:83461 |
Leber Congenital Amaurosis 13 |
|
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... |
OMIM:612712 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb... |
OMIM:619220 |
Immunodeficiency, Common Variable, 7 |
|
Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin... |
OMIM:614699 |
Anemia, Sideroblastic, 1 |
|
Anemia of inadequate production, Anemic pallor, Hypochromic microcytic anemia, Macrocytic anemia,... |
OMIM:300751 |
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Microspherophakia, Megalocornea, Iridodonesis, Deep anterior chamber, Ectopia lentis |
OMIM:251750 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Pigmentary retinopathy, Hepatomegaly, Cardiomyopathy |
OMIM:609016 |
Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... |
OMIM:610629 |
Leishmaniasis |
|
Hepatomegaly, Splenomegaly, Pallor, Leukopenia, Abnormal macrophage morphology, Elevated hepatic ... |
ORPHA:507 |
Nanophthalmos |
|
Abnormality of retinal pigmentation, Abnormal choroid morphology, Microphthalmia |
ORPHA:35612 |
Spondylo-Ocular Syndrome |
|
Retinal detachment, Aplasia/Hypoplasia of the lens, Iris hypopigmentation, Cataract, Microphthalmia |
ORPHA:85194 |
Auditory Neuropathy And Optic Atrophy |
|
Optic atrophy, Pallor, Rod-cone dystrophy |
OMIM:617717 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Lymphopeni... |
OMIM:619802 |
Cofs Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy, Cataract, Death in infancy, Microphthalmia, I... |
ORPHA:1466 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Pallor, Increased red cell hemolysis by shear stress,... |
OMIM:194380 |
Immunodeficiency 96 |
|
Increased mean corpuscular volume, Decreased circulating IgA level, Increased proportion of gamma... |
OMIM:619774 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Melena, Pallor, Anisocytosis, Poikilocytosis, Elevated hepatic... |
ORPHA:98870 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Decreased circulating IgA level, Decreased lymphocyte proliferation in res... |
ORPHA:331206 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Pallor, Hypopigmentation of the skin, Hypopigmentation of hair, Abnormal retinal morphology, Albi... |
ORPHA:2786 |
Microphthalmia, Isolated 5 |
|
Foveoschisis, Abnormal foveal morphology, Cystoid macular edema, Rod-cone dystrophy, Optic disc d... |
OMIM:611040 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Abnormality of retinal pigmentation, Microphthalmia, Retinal detachment, Retinal dystrophy, Optic... |
OMIM:251270 |
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive |
|
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... |
OMIM:206000 |
Hereditary Spherocytosis |
|
Cholelithiasis, Hepatomegaly, Spherocytosis, Splenomegaly, Extramedullary hematopoiesis, Anemia, ... |
ORPHA:822 |
X-Linked Retinal Dysplasia |
|
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Retinal dysplasia |
ORPHA:1852 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Lymphopenia, Aplasia of the thymus, Abnormally low T cell receptor excision circle level, Hepatos... |
OMIM:242700 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation, Microphthalmia |
ORPHA:1574 |
Immunodeficiency 92 |
|
Decreased circulating IgA level, Abnormal B cell proliferation, Decreased circulating IgG level, ... |
OMIM:619652 |
Autoimmune Hemolytic Anemia |
|
Abnormal leukocyte morphology, Splenomegaly, Pallor, Arrhythmia, Hemolytic anemia, Congestive hea... |
ORPHA:98375 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased specific anti-polysaccharide antibody level, Splenomegaly, Autoimmune thrombocytopenia,... |
OMIM:300853 |
Hydrops Fetalis, Nonimmune |
|
Anemia, Hydrops fetalis, Nonimmune hydrops fetalis, Congestive heart failure |
OMIM:236750 |
Liberfarb Syndrome |
|
Retinal pigment epithelial mottling, Optic disc pallor, Retinal degeneration, Bone spicule pigmen... |
OMIM:618889 |
Leber Congenital Amaurosis 14 |
|
Pallor, Optic disc pallor, Rod-cone dystrophy, Retinal dystrophy |
OMIM:613341 |
Polycythemia Vera |
|
Budd-Chiari syndrome, Increased hematocrit, Leukocytosis, Splenomegaly, Cerebral hemorrhage, Cere... |
OMIM:263300 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Anemia, Sideroblastic anemia |
OMIM:205950 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Neutropenia in presence of anti-neutropil antibodies, Nephrotic syndrome, Coombs-positive hemolyt... |
OMIM:603909 |
Retinitis Pigmentosa 73 |
|
Pallor, Retinal atrophy, Rod-cone dystrophy |
OMIM:616544 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Decreased lymphocyte proliferation in response to anti-CD3, Lymphopenia, T lymphocytopenia, Panhy... |
OMIM:600802 |
Refractory Anemia With Excess Blasts |
|
Anemia of inadequate production, Leukocytosis, Palpitations, Anemic pallor, Abnormal mean corpusc... |
ORPHA:86839 |
Waldenström Macroglobulinemia |
|
Hepatomegaly, Abnormal retinal vascular morphology, Splenomegaly, Pallor, Normocytic anemia, Reti... |
ORPHA:33226 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Beta-Thalassemia |
|
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio |
OMIM:613985 |
Dominant Beta-Thalassemia |
|
Decreased mean corpuscular volume, Anisocytosis, Skin ulcer, Jaundice, Splenomegaly, Extramedulla... |
ORPHA:231226 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Increased circulating antibody level, Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thromb... |
OMIM:614470 |
Anterior Segment Dysgenesis 2 |
|
Congenital aphakia, Corneal opacity, Microcornea, Coloboma, Peters anomaly, Cataract, Microphthal... |
OMIM:610256 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Retinopathy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal dystrophy, Ret... |
OMIM:180210 |
Beta-Thalassemia Major |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly, Anisopoikilocyt... |
ORPHA:231214 |
Bardet-Biedl Syndrome 13 |
|
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy |
OMIM:615990 |
Bothnia Retinal Dystrophy |
|
Increased OCT-measured foveal thickness, Retinal degeneration, Macular degeneration, Abnormal fov... |
ORPHA:85128 |
Bietti Crystalline Dystrophy |
|
Subretinal deposits, Cystoid macular edema, Retinal pigment epithelial mottling, Retinal thinning... |
ORPHA:41751 |
Retinitis Pigmentosa 39 |
|
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy |
OMIM:613809 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Agammaglobulinemia, Absent circulating B cells, Thrombocytopenia |
OMIM:619693 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Increased circulating IgE level, B lymphocytopenia, T lymphocytopenia |
ORPHA:217390 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Lymphopenia, Aplasia of the thymus, Splenomegaly, Abnormally low T cell receptor excision circle ... |
OMIM:602450 |
Senior-Loken Syndrome |
|
Abnormality of retinal pigmentation, Retinal dystrophy, Congenital hepatic fibrosis, Cataract, Hy... |
ORPHA:3156 |
Cone-Rod Dystrophy 16 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Optic disc pal... |
OMIM:614500 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Bilateral microphthalmos, Optic disc hypoplasia, Hypoplasia of the fovea, Coloboma |
OMIM:613703 |
Reticuloendotheliosis, X-Linked |
|
Anemia, Hepatosplenomegaly, Jaundice |
OMIM:312500 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Decreased circulating IgG level, Decreased circulating total IgM, Hepatosplenomegaly, B lymphocyt... |
OMIM:301081 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased circulating IgA level, Abnormal circulating IgM level, Increased circulating IgG level,... |
OMIM:618048 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased circulating antibody level, Nephrotic syndrome, Absent isohemagglutinin level, Splenome... |
OMIM:615559 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Decreased mean corpuscular volume, Pallor, Hepatosplenomegaly, Anisopoikilocytosis, Elevated hepa... |
ORPHA:300298 |
Congenital Atransferrinemia |
|
Anemia, Abnormality of the pancreas |
ORPHA:1195 |
Central Retinal Vein Occlusion |
|
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati... |
ORPHA:411527 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Splenomegaly, Heinz bodies, Anisocytosis, Pallor, Poikilocytosis, Fava bean-induced... |
OMIM:300908 |
Optic Atrophy 1 |
|
Optic atrophy, Pallor |
OMIM:165500 |
Cleft Lip-Retinopathy Syndrome |
|
Retinopathy, Abnormality of retinal pigmentation |
ORPHA:1995 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Splenomegaly, Anemia, Anisocytosis, Hydrops fetalis, Poikilocytosis, Congenital hemolytic anemia,... |
ORPHA:766 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
Lymphopenia, T lymphocytopenia |
OMIM:618309 |
Dermatitis, Atopic |
|
Pallor, Dry skin, Facial erythema, Keratoconus, Cataract, Conjunctivitis |
OMIM:603165 |
Immunodeficiency 68 |
|
Abscess, Abnormal natural killer cell count, B lymphocytopenia, T lymphocytopenia |
OMIM:612260 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Lymphopenia, ... |
ORPHA:35078 |
Pearson Marrow-Pancreas Syndrome |
|
Hypoplastic anemia, Exocrine pancreatic insufficiency, Neutropenia, Sideroblastic anemia, Hepatom... |
OMIM:557000 |
Transaldolase Deficiency |
|
Telangiectasia, Cirrhosis, Hepatosplenomegaly, Hydrops fetalis, Edema, Premature skin wrinkling, ... |
ORPHA:101028 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Decreased mean corpuscular volume, Pallor, Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:611590 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Cataract, Aplasia/Hypoplasia of the lens |
ORPHA:1381 |
Hemochromatosis, Type 2B |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Hyperpigmentation of the sk... |
OMIM:613313 |
Retinitis Pigmentosa 51 |
|
Macular degeneration, Rod-cone dystrophy, Pallor, Attenuation of retinal blood vessels, Bone spic... |
OMIM:613464 |
Trimethylaminuria |
|
Splenomegaly, Tachycardia, Neutropenia, Hypertension, Anemia |
OMIM:602079 |
Immunodeficiency 60 And Autoimmunity |
|
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased basophi... |
OMIM:618394 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Neutropenia i... |
ORPHA:572 |
Retinitis Pigmentosa 9 |
|
Rod-cone dystrophy, Macular edema, Cataract, Macular atrophy, Bone spicule pigmentation of the re... |
OMIM:180104 |
Hyperreflexia |
|
Abnormality of retinal pigmentation |
OMIM:145290 |
Elliptocytosis 1 |
|
Splenomegaly, Pallor, Hemolytic anemia, Elliptocytosis, Jaundice |
OMIM:611804 |
Imerslund-Gräsbeck Syndrome |
|
Megaloblastic anemia, Neutropenia, Pallor, Tachycardia, Anisopoikilocytosis, Macrocytic anemia, T... |
ORPHA:35858 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Pallor, Tachycardia, Autoimmune hemolytic anemia, Congestive heart failure |
ORPHA:90037 |
Microcephaly-Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Intrauterine growth retardation, Abnormality of retinal pigmentation |
ORPHA:2515 |
Sjögren-Larsson Syndrome |
|
Abnormality of retinal pigmentation, Macular degeneration, Retinopathy, Erythema, Dry skin, Gener... |
ORPHA:816 |
X-Linked Lymphoproliferative Disease |
|
Hemophagocytosis, Aplastic anemia, B lymphocytopenia, Increased proportion of CD25+ mast cells, P... |
ORPHA:2442 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Optic atrophy, Optic disc pallor, Hypertrophic cardiomyopathy, Pallor |
OMIM:612989 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Decreased circulating IgA level, Lymphopenia, Diffuse mesangial sclerosis, Splenomegaly, Aplasia ... |
OMIM:102700 |
Sickle Cell Anemia |
|
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... |
ORPHA:232 |
Blue Cone Monochromatism |
|
Abnormality of retinal pigmentation, Corneal dystrophy |
ORPHA:16 |
Leber Congenital Amaurosis 2 |
|
Absent foveal reflex, Attenuation of retinal blood vessels, Pigmentary retinopathy, Fundus atroph... |
OMIM:204100 |
Cold Agglutinin Disease |
|
Hemolytic anemia, Pallor, Hepatomegaly, Splenomegaly |
ORPHA:56425 |
Histiocytoid Cardiomyopathy |
|
Congenital aphakia, Corneal opacity, Wolff-Parkinson-White syndrome, Pulmonary edema, Supraventri... |
ORPHA:137675 |
Retinitis Pigmentosa 81 |
|
Pallor |
OMIM:617871 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Anemia, Dilated cardiomyopathy |
OMIM:611283 |
Leber Congenital Amaurosis 1 |
|
Hepatomegaly, Attenuation of retinal blood vessels, Pigmentary retinopathy, Optic disc drusen, Fu... |
OMIM:204000 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Jaundice, Hemophagocytosis, Splenomegaly, Edema, Neutropenia, Anemia, Thrombocytope... |
OMIM:603552 |
Erythrocytosis, Familial, 1 |
|
Cerebral hemorrhage, Increased hematocrit, Splenomegaly, Increased red blood cell mass, Myocardia... |
OMIM:133100 |
Achromatopsia |
|
Absent foveal reflex, Abnormal macular morphology, Retinal pigment epithelial mottling, Attenuati... |
ORPHA:49382 |
Retinitis Pigmentosa 32 |
|
Photoreceptor layer loss on macular OCT, Retinal degeneration, Attenuation of retinal blood vesse... |
OMIM:609913 |
Night Blindness, Congenital Stationary, Autosomal Dominant 1 |
|
Bone spicule pigmentation of the retina, Congenital stationary night blindness |
OMIM:610445 |
Retinitis Pigmentosa 37 |
|
Cystoid macular degeneration, Cataract, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:611131 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Decreased specific anti-polysaccharide antibody level, Decreased lymphocyte proliferation in resp... |
OMIM:606367 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Cirrhosis, Arrhythmia, Hyperpigmentation of the skin, Cataract, Anemia, Hepatic ste... |
OMIM:606069 |
Grouped Pigmentation Of The Retina |
|
Abnormality of retinal pigmentation |
OMIM:233800 |
Ataxia-Tapetoretinal Degeneration Syndrome |
|
Pigmentary retinopathy, Rod-cone dystrophy |
ORPHA:1178 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD... |
OMIM:150550 |
Leber Congenital Amaurosis 8 |
|
Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopathy, Choriocapilla... |
OMIM:613835 |
American Trypanosomiasis |
|
Hepatomegaly, Splenomegaly, Pallor, Arrhythmia, Myocarditis, Edema, Periorbital edema, Cardiomyop... |
ORPHA:3386 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Hepatomegaly, Rod-cone dystrophy, Pigmentary retinopathy, Optic atrophy, Diffuse hepatic steatosi... |
OMIM:264470 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Circulating nucleated red blood cells, Anemia of inadequate production, Splenomegaly, Anemia, Ani... |
OMIM:613673 |
Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Retinal pigment epithelial mottling, Retinopathy, Rod-cone dystrophy |
OMIM:551500 |
Retinitis Pigmentosa 40 |
|
Bone spicule pigmentation of the retina, Cataract, Attenuation of retinal blood vessels, Rod-cone... |
OMIM:613801 |
Leber Congenital Amaurosis 9 |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, Attenuation of reti... |
OMIM:608553 |
Homocarnosinosis |
|
Abnormality of retinal pigmentation, Abnormality of skin pigmentation |
OMIM:236130 |
Leigh Syndrome With Leukodystrophy |
|
Optic atrophy, Anemia, Hypertrophic cardiomyopathy, Pigmentary retinopathy |
ORPHA:255241 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Lymphopenia, Leukocytosis, Hypoplasia of the thymus, Thrombocytosis, Impaired lymphocyte transfor... |
OMIM:243150 |
Mulibrey Nanism |
|
Hepatomegaly, Hydrops fetalis, Pigmentary retinopathy, Astigmatism, Iris coloboma, Corneal dystro... |
OMIM:253250 |
Retinitis Pigmentosa 11 |
|
Perifoveal ring of hyperautofluorescence, Macular degeneration, Rod-cone dystrophy, Macular edema... |
OMIM:600138 |
Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Hydrops fetalis, Thrombocytopenia, Polyhydramnios, Patent ductus arteriosus, Anemia... |
ORPHA:2123 |
Tempi Syndrome |
|
Increased hematocrit, Polycythemia, Intracranial hemorrhage, Facial erythema, Telangiectasia, Tra... |
ORPHA:284227 |
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:2246 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Cutis laxa, Dry skin, Coloboma, Optic atrophy, Elevated hepatic transaminase, Microcytic anemia, ... |
OMIM:612379 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Optic atrophy, Retinopathy, Pigmentary retinopathy |
OMIM:610951 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Splenomegaly, Pallor, Tachycardia, Chronic lymphatic leukemia, Autoimmune hemolytic anemia, Jaund... |
ORPHA:90033 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Abnormal macular morphology, Bone-marrow foam... |
OMIM:607616 |
Stargardt Disease |
|
Yellow/white lesions of the macula, Abnormal foveal morphology, Macular degeneration, Retinal pig... |
ORPHA:827 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Pallor, Hepatosplenomegaly, Heart murmur, Iron deficiency anemia, Diffuse alveolar ... |
ORPHA:99931 |
Transcobalamin Ii Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level, Methylmalonic aciduria, Decreas... |
OMIM:275350 |
Fanconi Anemia, Complementation Group G |
|
Neutropenia, Multiple cafe-au-lait spots, Microphthalmia, Anemia, Thrombocytopenia, Leukemia |
OMIM:614082 |
Kniest Dysplasia |
|
Degenerative vitreoretinopathy, Lens luxation, Rhegmatogenous retinal detachment, Retinal detachm... |
ORPHA:485 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Decreased circulating IgG level, Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytope... |
OMIM:301078 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia, Leukemia, Acute myeloid leukemia, Erythroid... |
OMIM:133180 |
Weill-Marchesani Syndrome 3 |
|
Microspherophakia, Aortic valve stenosis, Shallow anterior chamber, Pulmonic stenosis, Ectopia le... |
OMIM:614819 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Pallor, Death in childhood, Anemia, Hepatomegaly |
OMIM:246450 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Decreased circulating IgA level, Nephrotic syndrome, Mucopolysacchariduria, Proteinuria, Abnormal... |
OMIM:215250 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Diffuse pancreatic islet hyperplasia, Pallor, Palpitations, Tachycardia, Syncope, F... |
ORPHA:276575 |
Retinitis Pigmentosa 30 |
|
Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Optic atrophy, B... |
OMIM:607921 |
Ataxia-Telangiectasia |
|
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Hypoplasia of the ... |
OMIM:208900 |
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2579 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Diffuse pancreatic islet hyperplasia, Pallor, Palpitations, Tachycardia, Syncope, H... |
ORPHA:276556 |
Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 27 concentration, Increased circulating IgA level, Reduced circul... |
OMIM:619632 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Hepatomegaly, Myeloproli... |
ORPHA:98849 |
Sepsis In Premature Infants |
|
Decreased liver function, Petechiae, Hepatomegaly, Leukocytosis, Splenomegaly, Pallor, Tachycardi... |
ORPHA:90051 |
Srd5A3-Cdg |
|
Spotty hyperpigmentation, Rod-cone dystrophy, Coloboma, Optic atrophy, Elevated hepatic transamin... |
ORPHA:324737 |
Retinitis Pigmentosa 33 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... |
OMIM:610359 |
Retinitis Pigmentosa 4 |
|
Cataract, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:613731 |
Leukodystrophy, Hypomyelinating, 24 |
|
B lymphocytopenia |
OMIM:619851 |
Oliver-Mcfarlane Syndrome |
|
Pigmentary retinopathy, Central heterochromia, Retinal degeneration |
OMIM:275400 |
Retinitis Pigmentosa 69 |
|
Abnormality of retinal pigmentation, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:615780 |
Lymphoproliferative Syndrome 1 |
|
Decreased circulating IgG level, Splenomegaly, Leukopenia, Autoimmune thrombocytopenia, Decreased... |
OMIM:613011 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Decreased liver function, Hepatomegaly, Oligohydramnios, Neonatal death, Cholestasis, Thrombocyto... |
OMIM:608104 |
Nail-Patella Syndrome |
|
Microphakia, Microcornea, Keratoconus, Cataract, Lester's sign, Antecubital pterygium |
OMIM:161200 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Diffuse pancreatic islet hyperplasia, Pallor, Palpitations, Tachycardia, Syncope, H... |
ORPHA:276580 |
Letterer-Siwe Disease |
|
Pallor, Hepatosplenomegaly, Neutropenia, Anemia, Thrombocytopenia, Jaundice |
OMIM:246400 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased proportion of naive T cells, Decreased circulating IgA level, Decreased lymphocyte prol... |
ORPHA:276 |
Alg8-Cdg |
|
Cutis laxa, Retinopathy, Hydrops fetalis, Thrombocytopenia, Optic atrophy, Elevated hepatic trans... |
ORPHA:79325 |
Retinitis Pigmentosa 76 |
|
Cystoid macular edema, Retinal thinning, Bone spicule pigmentation of the retina, Hyperautofluore... |
OMIM:617123 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Splenomegaly, Decr... |
OMIM:616100 |
Immunodeficiency, Common Variable, 4 |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:613494 |
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Decreased circulat... |
OMIM:619752 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Increased circulating antibody level, Decreased lymphocyte proliferation in response to mitogen, ... |
ORPHA:169160 |
Immunodeficiency 27A |
|
Histiocytosis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Increased circulating IgG level, T... |
OMIM:209950 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hepatosplenomegaly, T lymphocytopenia, Pancytopenia, Panhypogammaglobulinemia, Urinary retention,... |
ORPHA:79124 |
Hemochromatosis, Type 3 |
|
Lymphopenia, Cirrhosis, Elevated hepatic transaminase, Purpura, Hyperpigmentation of the skin, Ne... |
OMIM:604250 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Decreased circulating IgA level, Impaired Ig class switch recombination, Decreased circulating Ig... |
OMIM:608106 |
Autosomal Erythropoietic Protoporphyria |
|
Cholelithiasis, Decreased liver function, Cirrhosis, Erythema, Microcytic anemia, Edema |
ORPHA:79278 |
Osteopetrosis, Autosomal Recessive 4 |
|
Petechiae, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Optic atrophy, Optic ... |
OMIM:611490 |
Retinitis Pigmentosa 47 |
|
Chorioretinal atrophy, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:613758 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia, Microcornea, Coloboma |
OMIM:251505 |
Pgm3-Cdg |
|
Abnormal proportion of CD8-positive T cells, Lymphopenia, Neutropenia in presence of anti-neutrop... |
ORPHA:443811 |
Reticular Dystrophy Of Retinal Pigment Epithelium |
|
Abnormality of retinal pigmentation, Pigmentary retinopathy |
OMIM:179840 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Retinal pigment epithelial mottling, Optic disc pallor |
OMIM:619389 |
Immunodeficiency 17 |
|
T lymphocytopenia, Decreased proportion of CD8-positive T cells, Abnormal B cell morphology, Chro... |
OMIM:615607 |
Blepharoptosis-Myopia-Ectopia Lentis Syndrome |
|
Iris coloboma, Palpebral edema, Ectopia lentis, Abnormality of retinal pigmentation |
ORPHA:1259 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Pancreatitis, Hepatomegaly, Dehydration, Leukopenia, Macrocytic anemia, Optic atrophy, Anemia, Th... |
ORPHA:27 |
Focal Segmental Glomerulosclerosis 1 |
|
Hypertension, Anemia, Edema |
OMIM:603278 |
Retinitis Pigmentosa 90 |
|
Cystoid macular edema, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, ... |
OMIM:619007 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Coloboma, Developmental cataract, Ocular anterior segment dysgenesis, Microphthalmia, Retinal dys... |
ORPHA:324416 |
Dehydrated Hereditary Stomatocytosis |
|
Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem... |
ORPHA:3202 |
Cone-Rod Dystrophy 8 |
|
Abnormality of retinal pigmentation, Retinal arteriolar constriction, Macular degeneration, Pallo... |
OMIM:605549 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Lipid accumulation in hepatocytes, Hepatomegaly, Jaundice, Leukocytosis, Pallor, Dehydration, Leu... |
ORPHA:20 |
Progressive Cone Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1871 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia |
ORPHA:2643 |
Refsum Disease |
|
Abnormality of retinal pigmentation, Splenomegaly, Retinopathy, Dry skin, Cataract, Microphthalmi... |
ORPHA:773 |
Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Abnormal left ventricular function, Hypertensive retinopathy, Pancreati... |
ORPHA:892 |
Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Pigmentary retinopathy |
OMIM:617613 |
Non-Functioning Paraganglioma |
|
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... |
ORPHA:94080 |
Bleeding Disorder, Platelet-Type, 19 |
|
Anemia, Epistaxis, Macrothrombocytopenia |
OMIM:616176 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Autoimmune hemolytic anemia, Decreased CD4:CD8 ratio, Increased circulating IgG level, Splenomegaly |
OMIM:618495 |
Wolfram Syndrome 1 |
|
Megaloblastic anemia, Pigmentary retinopathy, Thrombocytopenia, Optic atrophy, Cataract, Siderobl... |
OMIM:222300 |
Retinitis Pigmentosa 54 |
|
Bone spicule pigmentation of the retina, Fundus atrophy, Attenuation of retinal blood vessels, Ro... |
OMIM:613428 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Tachycardia, Pallor |
ORPHA:90036 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Anisocytosis, Hepatos... |
OMIM:616860 |
Fanconi Anemia, Complementation Group I |
|
Neutropenia, Pallor, Optic nerve hypoplasia, Astigmatism, Microphthalmia, Cafe-au-lait spot, Intr... |
OMIM:609053 |
Diamond-Blackfan Anemia 16 |
|
Pulmonic stenosis, Anemia |
OMIM:617408 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Pancreatitis, Hepatomegaly, Splenomegaly, Dehydration, Optic atrophy, Neutropenia, Anemia, Thromb... |
ORPHA:79312 |
Congenital Stationary Night Blindness |
|
Congenital stationary night blindness with normal fundus, Abnormality of retinal pigmentation, Re... |
ORPHA:215 |
Sea-Blue Histiocytosis |
|
Sea-blue histiocytosis, Petechiae, Hepatomegaly, Splenomegaly, Hypopigmentation of the skin, Reti... |
ORPHA:158029 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Decreased liver function, Nonimmune hydrops fetalis, Neonatal death, Death in infancy, Anemia, Hy... |
OMIM:618835 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Decreased liver function, Nonimmune hydrops fetalis, Neonatal death, Death in infancy, Anemia, In... |
OMIM:618839 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Aminoaciduria, Splenomegaly, Hypochromic microcytic anemia, Schistocytosis, B lymphocytopenia, De... |
OMIM:616084 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Abnormality of the liver, Cataract, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:614307 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Pallor, Palpitations, Tachycardia, Syncope |
ORPHA:324575 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pallor, Tachycardia, Pancreatic islet-cell hyperplasia |
ORPHA:276608 |
Otodental Syndrome |
|
Retinal coloboma, Microcornea, Iris coloboma, Cataract, Microphthalmia, Lens coloboma |
ORPHA:2791 |
Retinitis Pigmentosa |
|
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Optic atrophy, Keratoc... |
ORPHA:791 |
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy |
|
Pigmentary retinopathy |
OMIM:619090 |
Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
Eosinophilia, Familial |
|
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis |
OMIM:131400 |
Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Splenomegaly, Optic atrophy, Anemia, Thrombocytopenia |
OMIM:615085 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Decreased circulating IgA level, Reduced natural killer cell count, Increased circulating IgM lev... |
OMIM:242860 |
Progressive Bifocal Chorioretinal Atrophy |
|
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy |
ORPHA:75373 |
Autosomal Dominant Keratitis |
|
Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Opacification of the corneal stro... |
ORPHA:2334 |
Leber Congenital Amaurosis |
|
Keratoconus, Cataract, Abnormal optic disc morphology, Abnormality of retinal pigmentation |
ORPHA:65 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Increased circulating IgA level... |
OMIM:308230 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Anemia, Anemic pallor, Edema, Hematochezia |
ORPHA:329971 |
Fumarase Deficiency |
|
Hepatic failure, Polycythemia, Pallor, Cholestasis, Optic atrophy |
OMIM:606812 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia, Hypospadias, Micropenis |
OMIM:250790 |
Protoporphyria, Erythropoietic, 1 |
|
Cholelithiasis, Hepatic failure, Erythema, Hemolytic anemia, Edema |
OMIM:177000 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Decreased circulating IgA level, Decreased proportion of class-switched memory B cells, Decreased... |
OMIM:614878 |
Vitreoretinochoroidopathy |
|
Vitreous hemorrhage, Retinal arteriolar constriction, Retinal detachment, Retinal neovascularizat... |
OMIM:193220 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Hepatomegaly, Jaundice, Death in childhood, Hypoplasia of the thymus, Palpebral edema, Opacificat... |
OMIM:214110 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
Agammaglobulinemia, X-Linked |
|
Decreased circulating IgA level, Decreased circulating IgG level, Complete or near-complete absen... |
OMIM:300755 |
Senior-Loken Syndrome 8 |
|
Intrahepatic bile duct dilatation, Rod-cone dystrophy, Pallor, Retinal dystrophy, Hepatic cysts, ... |
OMIM:616307 |
Retinal Venous Beading |
|
Saccular conjunctival dilatations, Vitreous hemorrhage, Retinal neovascularization, Edema, Neutro... |
OMIM:180080 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgA level, Decreased circulating IgG level |
OMIM:146830 |
Retinitis Pigmentosa 7 |
|
Chorioretinal atrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Rod-cone dys... |
OMIM:608133 |
Klippel-Trénaunay Syndrome |
|
Hepatomegaly, Hydrops fetalis, Pulmonary embolism, Microcytic anemia, Patent ductus arteriosus, E... |
ORPHA:90308 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Granular macular appearance, Abnormality of retinal pigmentation, Retinal degeneration, Bone spic... |
ORPHA:364055 |
Anti-Glomerular Basement Membrane Disease |
|
Purpura, Anemia, Retinal detachment, Vasculitis |
ORPHA:375 |
Agammaglobulinemia 1, Autosomal Recessive |
|
B lymphocytopenia, Panhypogammaglobulinemia, Decreased circulating antibody level, Rectal abscess... |
OMIM:601495 |
Retinitis Pigmentosa 88 |
|
Cystoid macular edema, Macular degeneration, Attenuation of retinal blood vessels, Optic disc pal... |
OMIM:618826 |
Retinopathy, Pericentral Pigmentary, Autosomal Recessive |
|
Pigmentary retinopathy, Astigmatism |
OMIM:268060 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Lymphopenia, Cryptorchidism, Splenomegaly, Hypoplasia of the thymus, Monocytosis, Hepatosplenomeg... |
OMIM:612541 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Decreased circulating IgA level, Impaired Ig class switch recombination, Decreased circulating Ig... |
OMIM:605258 |
Retinitis Pigmentosa 61 |
|
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy |
OMIM:614180 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia |
OMIM:251190 |
Idiopathic Hypereosinophilic Syndrome |
|
Supraventricular arrhythmia, Pancreatitis, Neutrophilia, Vasculitis in the skin, Portal fibrosis,... |
ORPHA:3260 |
Rh Deficiency Syndrome |
|
Hypochromia, Miscarriage, Jaundice, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Tachycardia,... |
ORPHA:71275 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Eosinophilia, Decreased circulating total IgM, Increased circulating IgG level, Decreased proport... |
OMIM:243700 |
Retinitis Pigmentosa 2 |
|
Rod-cone dystrophy, Pigmentary retinopathy, Fundus atrophy, Cataract, Chorioretinal degeneration,... |
OMIM:312600 |
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s... |
ORPHA:506353 |
Aregenerative Anemia |
|
Abnormal proportion of CD8-positive T cells, Neutropenia, Pallor, Erythroid hypoplasia, Decreased... |
ORPHA:101096 |
Cone-Rod Dystrophy, X-Linked, 1 |
|
Retinal pigment epithelial mottling, Hypoautofluorescent macular lesion, Retinal pigment epitheli... |
OMIM:304020 |
Retinitis Pigmentosa 86 |
|
Cystoid macular edema, Bone spicule pigmentation of the retina, Nummular pigmentation of the fund... |
OMIM:618613 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Leukocytosis, Pallor, Dehydration, Hypotension, Thrombocytosis, Edema, Hypertension |
ORPHA:134 |
Thrombocytopenia 5 |
|
Petechiae, Neutropenia, Anemia, Thrombocytopenia, Epistaxis |
OMIM:616216 |
Erythrocytosis, Familial, 2 |
|
Increased hematocrit, Cerebral hemorrhage, Hypotension, Increased red blood cell mass, Increased ... |
OMIM:263400 |
Transaldolase Deficiency |
|
Telangiectasia, Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Splenomegaly, Cir... |
OMIM:606003 |
Hepatoportal Sclerosis |
|
Abnormal liver parenchyma morphology, Intrahepatic portal vein sclerosis, Abnormality of the hepa... |
ORPHA:64743 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Dry skin |
ORPHA:3085 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Hepatomegaly, Jaundice, Splenomegaly, Hepatosplenomegaly, Palpebral edema, Opacification of the c... |
OMIM:614866 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Anemia, Dehydration, Hepatomegaly |
ORPHA:28 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Decreased specific anti-polysaccharide antibody level, Lymphopenia, Increased circulating IgA lev... |
OMIM:600903 |
Hereditary Folate Malabsorption |
|
Megaloblastic anemia, Pallor, Eosinophilia, Pancytopenia, Thrombocytopenia |
ORPHA:90045 |
Macrophthalmia, Colobomatous, With Microcornea |
|
Macular atrophy, Microcornea, Coloboma |
OMIM:602499 |
Primary Lateral Sclerosis, Juvenile |
|
Pallor |
OMIM:606353 |
Morning Glory Disc Anomaly |
|
Abnormality of retinal pigmentation, Cataract, Retinal detachment, Optic disc coloboma |
ORPHA:35737 |
Neonatal Lupus Erythematosus |
|
Abnormality of the liver, Neutropenia, Hepatomegaly, Splenomegaly, Hepatic failure, Aplastic anem... |
ORPHA:398124 |
Retinitis Pigmentosa 19 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... |
OMIM:601718 |
Gaucher Disease, Type I |
|
Aortic valve stenosis, Hepatomegaly, Splenomegaly, Mitral regurgitation, Macular atrophy, Pulmona... |
OMIM:230800 |
Cone Rod Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1872 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatomegaly, Chorioretinal atrophy, Hepatosplenomegaly, Hepatic steatosis, Dry skin, Pericarditi... |
OMIM:619487 |
Neonatal Adrenoleukodystrophy |
|
Optic atrophy, Abnormality of retinal pigmentation, Cataract, Abnormality of the liver |
ORPHA:44 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Heterochromia iridis |
ORPHA:1390 |
Bleeding Disorder, Platelet-Type, 16 |
|
Petechiae, Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Anemia, Thrombocytopenia |
OMIM:187800 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Petechiae, Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenome... |
OMIM:612840 |
Plummer-Vinson Syndrome |
|
Pallor, Hypochromic microcytic anemia, Iron deficiency anemia |
ORPHA:54028 |
Immunodeficiency 69 |
|
Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, Anemia |
OMIM:618963 |
Kearns-Sayre Syndrome |
|
Third degree atrioventricular block, Abnormality of retinal pigmentation |
ORPHA:480 |
Chédiak-Higashi Syndrome |
|
Hemophagocytosis, Increased proportion of CD25+ mast cells, Pancytopenia, Large clumps of pigment... |
ORPHA:167 |
Erythrocytosis, Familial, 4 |
|
Polycythemia, Increased hemoglobin, Increased hematocrit |
OMIM:611783 |
Idiopathic Aplastic Anemia |
|
Retinal hemorrhage, Pancytopenia, Ecchymosis, Neutropenia, Anemia, Thrombocytopenia, Epistaxis, R... |
ORPHA:88 |
Incontinentia Pigmenti |
|
Keratitis, Leukocytosis, Retinal vascular proliferation, Pallor, Eosinophilia, Retinal detachment... |
OMIM:308300 |
Myoclonus, Intractable, Neonatal |
|
Pallor |
OMIM:617235 |
Choroideremia |
|
Abnormality of retinal pigmentation |
ORPHA:180 |
Erythrocytosis, Familial, 5 |
|
Polycythemia, Increased hemoglobin, Increased hematocrit |
OMIM:617907 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Anemia of inadequate production, Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly, Anisocy... |
OMIM:224120 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased circula... |
OMIM:614700 |
Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit |
OMIM:609820 |
Ramon Syndrome |
|
Abnormal anterior chamber morphology, Telangiectasia of the skin, Abnormality of retinal pigmenta... |
ORPHA:3019 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Decreased liver function, Hepatomegaly, Death in childhood, Pigmentary retinopathy, Optic atrophy... |
OMIM:220110 |
Blackfan-Diamond Anemia |
|
Increased mean corpuscular volume, Neutropenia, Persistence of hemoglobin F, Pallor, Leukopenia, ... |
ORPHA:124 |
Retinopathy, Pigmentary, And Mental Retardation |
|
Cataract, Pigmentary retinopathy |
OMIM:268050 |
Sneddon Syndrome |
|
Decreased circulating total IgM, Lymphopenia |
OMIM:182410 |
Spontaneous Periodic Hypothermia |
|
Pallor, Arrhythmia |
ORPHA:29822 |
Cinca Syndrome |
|
Leukocytosis, Papilledema, Eosinophilia, Hepatosplenomegaly, Lymphedema, Anemia |
OMIM:607115 |
Eem Syndrome |
|
Macular dystrophy, Abnormality of retinal pigmentation, Retinopathy |
ORPHA:1897 |
Pigmented Paravenous Chorioretinal Atrophy |
|
Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy |
OMIM:172870 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Coloboma, Peters anomaly, Iris coloboma, Ocular anterior segment dysgenesis, Microphthalmia |
OMIM:610023 |
Peripartum Cardiomyopathy |
|
Myocarditis, Heart murmur, Pedal edema, Reduced left ventricular ejection fraction, Left bundle b... |
ORPHA:563 |
Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Partial absence o... |
OMIM:240500 |
Retinitis Pigmentosa 56 |
|
Nuclear cataract, Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopath... |
OMIM:613581 |
Aceruloplasminemia |
|
Abnormality of retinal pigmentation, Abnormal pancreas morphology, Retinal degeneration, Macular ... |
ORPHA:48818 |
Acute Erythroid Leukemia |
|
Pancytopenia, Leukopenia, Anemia, Erythroid hypoplasia |
ORPHA:318 |
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement |
|
Macular coloboma, Abnormality of retinal pigmentation, Chorioretinal coloboma |
ORPHA:2196 |
Lymphatic Malformation 7 |
|
Pulmonary edema, Facial edema, Nonimmune hydrops fetalis, Lymphedema, Edema, Anemia, Pericardial ... |
OMIM:617300 |
Wilson Disease |
|
Joint swelling, Hepatomegaly, Acute hepatitis, Splenomegaly, Acute hepatic failure, Cirrhosis, He... |
ORPHA:905 |
Retinitis Pigmentosa 83 |
|
Cystoid macular edema, Rod-cone dystrophy, Attenuation of retinal blood vessels, Asteroid hyalosi... |
OMIM:618173 |
Lysosomal Acid Lipase Deficiency |
|
Hepatomegaly, Periportal fibrosis, Splenomegaly, Hepatic failure, Cirrhosis, Hepatosplenomegaly, ... |
OMIM:278000 |
Usher Syndrome, Type Iv |
|
Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, Retinal atrophy, Re... |
OMIM:618144 |
Duodenal Neuroendocrine Tumor |
|
Melena, Increased hematocrit, Hematemesis, Hepatic failure, Tricuspid stenosis, Pulmonic stenosis... |
ORPHA:100076 |
Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
Retinitis Pigmentosa 17 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:600852 |
Spinocerebellar Ataxia 7 |
|
Optic atrophy, Pigmentary retinopathy, Macular degeneration |
OMIM:164500 |
Aplasia Cutis-Myopia Syndrome |
|
Skin ulcer, Abnormality of retinal pigmentation |
ORPHA:1117 |
Retinitis Punctata Albescens |
|
Absent foveal reflex, Cystoid macular edema, Abnormality of fundus pigmentation, Retinal pigment ... |
ORPHA:52427 |
Congenital Enterovirus Infection |
|
Leukocytosis, Hepatic failure, Leukopenia, Hydrops fetalis, Myocarditis, Abnormal macrophage morp... |
ORPHA:292 |
Coach Syndrome 2 |
|
Congenital hepatic fibrosis, Coloboma, Elevated hepatic transaminase, Hepatic fibrosis, Hypertens... |
OMIM:619111 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Abnormality of retinal pigmentation, Hepatomegaly, Cholestatic liver disease, Retinopathy, Chorio... |
ORPHA:5 |
Retinitis Pigmentosa 6 |
|
Chorioretinal degeneration, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:312612 |
Joubert Syndrome 22 |
|
Microphthalmia, Intrauterine growth retardation, Retinal dysplasia, Coloboma |
OMIM:615665 |
Diabetes And Deafness, Maternally Inherited |
|
Pigmentary retinopathy, Cardiomyopathy, Retinal degeneration |
OMIM:520000 |
Senior-Loken Syndrome 4 |
|
Anemia, Rod-cone dystrophy |
OMIM:606996 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Decreased liver function, Hepatomegaly, Pigmentary retinopathy, Optic atrophy, Diffuse hepatic st... |
ORPHA:436271 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro... |
OMIM:608203 |
Cyclic Vomiting Syndrome |
|
Pallor, Cardiomyopathy |
OMIM:500007 |
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2743 |
Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Photoreceptor layer loss on macular OCT, Retinal pigment epithelial mottling, Peripheral retinal ... |
OMIM:145350 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Subcapsular cataract, Rod-cone dystrophy, Dry skin, Pigmentary retinopathy, Elevated hepatic tran... |
OMIM:268020 |
Neurocutaneous Melanocytosis |
|
Abnormality of retinal pigmentation, Intracranial hemorrhage, Numerous congenital melanocytic nev... |
ORPHA:2481 |
Erythrocytosis, Familial, 6 |
|
Polycythemia, Increased hemoglobin, Increased hematocrit |
OMIM:617980 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Abnormality of retinal pigmentation, Microphthalmia, Chylothorax, Retinopathy, Retinal detachment... |
ORPHA:2526 |
Anemia, Sideroblastic, 5 |
|
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia |
OMIM:619523 |
Fanconi Anemia, Complementation Group E |
|
Microphthalmia, Anemic pallor, Thrombocytopenia, Pancytopenia, Hyperpigmentation of the skin, Neu... |
OMIM:600901 |
Bornholm Eye Disease |
|
Optic nerve hypoplasia, Abnormality of retinal pigmentation, Astigmatism |
OMIM:300843 |
Retinitis Pigmentosa 28 |
|
Bone spicule pigmentation of the retina, Optic disc pallor, Rod-cone dystrophy |
OMIM:606068 |
Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Ocular albinism, Hypopigmentation of the skin, Hypopigmentat... |
ORPHA:79435 |
Fanconi Anemia, Complementation Group C |
|