| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Pneumonia, Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibod... |
OMIM:247800 |
| Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... |
OMIM:618534 |
| Carbimazole Sensitivity |
|
Drug-induced agranulocytosis |
OMIM:212060 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Decreased specific pneumococcal antibody level, Minimal change glomerulonephritis, Nephrotic synd... |
OMIM:617006 |
| Autoimmune Lymphoproliferative Syndrome |
|
Follicular hyperplasia, Antiphospholipid antibody positivity, Increased circulating IgA level, He... |
OMIM:601859 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Splenomegaly, T... |
OMIM:615513 |
| Lymphoma, Hodgkin, Classic |
|
Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin |
OMIM:236000 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Follicular hyperplasia, Antiphospholipid antibody positivity, Increased circulating IgA level, He... |
OMIM:603909 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Fluctuating splenomegaly, Recurrent otitis media, Autoimmune hemolytic anemia, Lymphadenopathy, N... |
OMIM:619220 |
| Immunodeficiency 25 |
|
Recurrent pneumonia, Increased circulating IgE level, Complete or near-complete absence of specif... |
OMIM:610163 |
| Immunodeficiency, Common Variable, 6 |
|
Decreased specific pneumococcal antibody level, Abnormal T cell count, Mesangial Immune complex d... |
OMIM:613496 |
| Immunodeficiency, Common Variable, 5 |
|
Antinuclear antibody positivity, Abnormal T cell count, Chronic decreased circulating total IgG, ... |
OMIM:613495 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... |
OMIM:615559 |
| Immunodeficiency 24 |
|
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... |
OMIM:615897 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Ane... |
OMIM:615285 |
| Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgG level, Impaired memory B cell generation, Absence of lymph node germina... |
OMIM:606843 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Hematuria, Increased circulating IgA level, Glomerulonephritis, Thrombocytopenia |
OMIM:314000 |
| Eosinophilia, Familial |
|
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia |
OMIM:131400 |
| Systemic Lupus Erythematosus 16 |
|
Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Antinuclear antibody positivity, De... |
OMIM:614420 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Abnormality of humoral immunity, Inflammatory abnormality of the skin, Recurrent pneumonia, Absen... |
ORPHA:277 |
| Neutropenia, Severe Congenital, 10, Autosomal Recessive |
|
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia |
OMIM:620534 |
| Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Leukemia, Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocy... |
OMIM:153600 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Enamel hypomineralization, Iron deficiency anemia, Thrombocytopenia, Neutropenia, Increased mean ... |
ORPHA:494444 |
| Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Herpes simplex encephalitis, Increased circulating IgE level, Recurrent otitis media, Hepatosplen... |
OMIM:618982 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... |
OMIM:202700 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Decreased proportion of memory B cells, Anti-thyroglobulin antibody positivity, Anti-beta-2-Glyco... |
OMIM:618048 |
| Immunodeficiency 86 |
|
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level |
OMIM:619549 |
| Cephalin Lipidosis |
|
Abnormality of the spleen |
OMIM:212800 |
| Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Decreased circulating IgG level, Atopic dermatitis, Cutaneous abscess, Increased circulating IgE ... |
OMIM:618944 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Splenomegaly, Antinuclear antibody ... |
OMIM:619375 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Abnormal proportion of... |
OMIM:212050 |
| Immunoglobulin A Deficiency 2 |
|
Abnormal lymphocyte morphology, Decreased circulating IgA level, Autoimmunity |
OMIM:609529 |
| Immunodeficiency, Common Variable, 11 |
|
Decreased circulating IgG level, Abnormal T cell count, Inflammation of the large intestine, Muco... |
OMIM:615767 |
| Immunodeficiency, Common Variable, 4 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Complete or near-complete absen... |
OMIM:613494 |
| Immunodeficiency With Hyper-Igm, Type 5 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... |
OMIM:608106 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
| Activated Pi3K-Delta Syndrome |
|
Pneumonia, Recurrent tonsillitis, Recurrent otitis media, Autoimmunity, Decreased circulating ant... |
ORPHA:397596 |
| Acute Myelomonocytic Leukemia |
|
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia |
ORPHA:517 |
| Immunodeficiency With Hyper-Igm, Type 2 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... |
OMIM:605258 |
| Immunodeficiency 52 |
|
Recurrent pneumonia, Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulat... |
OMIM:617514 |
| Immunodeficiency 95 |
|
Decreased circulating IgG3 level, Lymphopenia, Recurrent viral pneumonia, Increased circulating I... |
OMIM:619773 |
| Immunodeficiency 27A |
|
Hypoalbuminemia, Pneumonia, Rheumatoid factor positive, Enlarged mesenteric lymph node, Hepatospl... |
OMIM:209950 |
| Undritz Anomaly |
|
Hypersegmentation of neutrophil nuclei |
OMIM:191500 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Pancytopenia, Splenomegaly, Follicular hyperplasia, Hepatomegaly, Lymphocytosis, Neutropenia, Mon... |
OMIM:614470 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Recurrent urinary tract infections, Recurrent otitis media, Decreased CD4:CD8 ratio, Autoimmunity... |
OMIM:618495 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... |
OMIM:616452 |
| Immunodeficiency 18 |
|
Recurrent pneumonia, Reduced natural killer cell count, Recurrent otitis media, Lymphopenia, Abno... |
OMIM:615615 |
| Immunodeficiency 105 |
|
Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina... |
OMIM:619924 |
| Immune Deficiency, Familial Variable |
|
Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:146830 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hepatitis, Systemic lupus erythematosus, Recurrent otitis media, Lymphopenia, Autoimmunity, Splen... |
ORPHA:444463 |
| C1Q Deficiency 1 |
|
Decreased circulating complement factor I concentration, Autoimmunity, Membranoproliferative glom... |
OMIM:613652 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ... |
OMIM:187800 |
| Immunoerythromyeloid Hypoplasia |
|
Erythroid hypoplasia, Decreased circulating IgG level |
OMIM:242880 |
| Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
| Immunodeficiency, Common Variable, 3 |
|
Abnormal T cell count, Chronic decreased circulating total IgG, Recurrent otitis media, Decreased... |
OMIM:613493 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Autoimmunity, Sple... |
OMIM:616005 |
| Immunodeficiency 62 |
|
Decreased circulating IgG level, Decreased proportion of memory B cells, Complete or near-complet... |
OMIM:618459 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... |
OMIM:314050 |
| Gamma-A-Globulin, Defect In Assembly Of |
|
Decreased circulating IgA level |
OMIM:137050 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Increased circulating IgE level, Lymph... |
ORPHA:169154 |
| Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... |
OMIM:619632 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu... |
ORPHA:766 |
| Hemoglobin D Disease |
|
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... |
ORPHA:90039 |
| Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
| Histiocytosis, Familial Lipochrome |
|
Histiocytosis, Increased circulating antibody level |
OMIM:235900 |
| Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes |
|
Decreased circulating IgG level, T lymphocytopenia |
OMIM:242870 |
| Histiocytosis, Progressive Mucinous |
|
Mucinous histiocytosis |
OMIM:142630 |
| Immunodeficiency 10 |
|
Decreased circulating IgG level, Recurrent pneumonia, Recurrent urinary tract infections, Recurre... |
OMIM:612783 |
| Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent pneumonia, Recurrent tonsillitis, Systemic lupus erythematosus, Renal insufficiency, Me... |
OMIM:613779 |
| Immunodeficiency 60 And Autoimmunity |
|
Decreased circulating IgG level, Decreased proportion of memory B cells, Bronchiectasis, Decrease... |
OMIM:618394 |
| Caspase 8 Deficiency |
|
Pneumonia, Decreased circulating IgG level, Eczematoid dermatitis, Decreased circulating IgA leve... |
OMIM:607271 |
| Hepatic Venoocclusive Disease With Immunodeficiency |
|
Decreased circulating IgG level, Abnormality of the liver, Absence of lymph node germinal center |
OMIM:235550 |
| Immunodeficiency 61 |
|
Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased circulating IgG4 level |
OMIM:300310 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration |
ORPHA:231249 |
| Immunodeficiency 32B |
|
Hypoalbuminemia, Impaired oxidative burst, Splenomegaly, Sinusitis, Eosinophilia, Hepatomegaly, M... |
OMIM:226990 |
| Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Atopic dermatitis, Bronchiectasis, Increased circulating IgE level, Colonic eosinophil... |
OMIM:617638 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Enteroviral encephalitis, Increased circulating IgA level, Cirrhosis, Neutropenia, Hepatomegaly, ... |
OMIM:308230 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri... |
OMIM:619271 |
| Immune Thrombocytopenia |
|
Thrombocytopenia |
OMIM:188030 |
| Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Recurren... |
OMIM:619707 |
| Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
| Immunodeficiency, Common Variable, 1 |
|
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Impaired ... |
OMIM:607594 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Decreased circulating IgG level, Inflammation of the large intestine, Eczematoid dermatitis, Chro... |
ORPHA:98813 |
| Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Bone marrow hypocellularity, Leukopenia, Acute myeloid leukemia, Monocytosis, Refractory anemia |
OMIM:616871 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Neutropenia, Reduced natu... |
OMIM:308240 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function |
ORPHA:231393 |
| Schnitzler Syndrome |
|
Leukocytosis, Splenomegaly, Skin rash, Hepatomegaly, Lymphadenopathy, Arthritis, Anemia, Increase... |
ORPHA:37748 |
| Okt4 Epitope Deficiency |
|
Abnormal T cell morphology |
OMIM:613949 |
| Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Bone marrow hypocellularity, Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte mor... |
ORPHA:86841 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm... |
OMIM:615193 |
| Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Impaired T cell func... |
OMIM:240500 |
| Nephrotic Syndrome, Type 7 |
|
Hypoalbuminemia, Thickened glomerular basement membrane, Acute kidney injury, Stage 5 chronic kid... |
OMIM:615008 |
| Severe Combined Immunodeficiency, X-Linked |
|
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level,... |
OMIM:300400 |
| Systemic Lupus Erythematosus |
|
Nephritis, Systemic lupus erythematosus, Leukopenia, Malar rash, Antinuclear antibody positivity,... |
OMIM:152700 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Eczematoid dermatitis, Decreased proportion of CD8-positive T cells, Increased circulating IgE le... |
OMIM:617241 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Decreased circulating total IgM, Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
| C3 Glomerulopathy |
|
Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Paraprot... |
ORPHA:329918 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Giant platelets, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Thrombocy... |
OMIM:155100 |
| Neutropenia-Monocytopenia-Deafness Syndrome |
|
Abnormality of neutrophils, Abnormal macrophage morphology |
ORPHA:2690 |
| Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Agammaglobulinemia,... |
OMIM:613500 |
| Neutropenia, Chronic Familial |
|
Periodontitis, Neutropenia, Increased circulating antibody level |
OMIM:162700 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Cervical l... |
OMIM:618987 |
| Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
| Myeloperoxidase Deficiency |
|
Diminished neutrophil myeloperoxidase activity |
OMIM:254600 |
| Transcobalamin Deficiency |
|
Decreased circulating IgG level, Acute kidney injury, Methylmalonic aciduria, Lymphopenia, Decrea... |
ORPHA:859 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Cutaneous anergy, Pancytopenia, Hypersplenism, Splenomegaly, Decreased helper T cell proportion |
OMIM:183350 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Agammaglobulinemia, Decreased circulating antibody level |
OMIM:616911 |
| Autoimmune Hepatitis |
|
Inflammation of the large intestine, Increased circulating antibody level, Cirrhosis, Glomerulone... |
ORPHA:2137 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... |
OMIM:615631 |
| Giant platelet syndrome with thrombocytopenia |
|
Giant platelets, Thrombocytopenia |
OMIM:137560 |
| Immunodeficiency, Common Variable, 14 |
|
Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve... |
OMIM:617765 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Hepatitis, Eczematoid dermatitis, Increased circulating IgE level, Anti-glutamic acid decarboxyla... |
OMIM:304790 |
| Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia, Recurrent otitis media, B lymphocytopenia |
OMIM:616941 |
| Kimura Disease |
|
Increased circulating IgE level, Eosinophilia, Follicular hyperplasia, Lymphadenopathy |
ORPHA:482 |
| Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
| Mu-Heavy Chain Disease |
|
Nephropathy, Bence Jones Proteinuria, Abnormal B cell count, Splenomegaly, Increased circulating ... |
ORPHA:100024 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy... |
ORPHA:67044 |
| Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,... |
OMIM:620058 |
| Asthma, Short Stature, And Elevated Iga |
|
Increased circulating IgA level |
OMIM:208600 |
| Acute Erythroid Leukemia |
|
Bone marrow hypocellularity, Monoclonal immunoglobulin M proteinemia, Pancytopenia, Leukopenia, E... |
ORPHA:318 |
| Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia |
OMIM:618310 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho... |
OMIM:620282 |
| Immunodeficiency, Common Variable, 7 |
|
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Recurrent urinar... |
OMIM:614699 |
| Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... |
OMIM:613502 |
| Papular Xanthoma |
|
Histiocytosis |
ORPHA:158008 |
| Immunodeficiency 112 |
|
Decreased circulating IgG level, Reduced natural killer cell count, Chronic mucocutaneous candidi... |
OMIM:620449 |
| Combined Immunodeficiency, X-Linked |
|
Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-po... |
OMIM:312863 |
| Agammaglobulinemia 5, Autosomal Dominant |
|
Agammaglobulinemia |
OMIM:613506 |
| Immunodeficiency 88 |
|
Eosinophilia |
OMIM:619630 |
| Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM |
OMIM:610798 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... |
OMIM:612692 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly |
OMIM:607685 |
| Autoimmune Lymphoproliferative Syndrome |
|
Systemic lupus erythematosus, Increased circulating IgE level, Lymphopenia, Hypersplenism, Decrea... |
ORPHA:3261 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... |
OMIM:619824 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly, Antinuclear antibody positivity, Pu... |
OMIM:617388 |
| Immunodeficiency 44 |
|
Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level |
OMIM:616636 |
| Immunodeficiency 53 |
|
Recurrent pneumonia, Recurrent urinary tract infections, Recurrent otitis media, Skin rash, Impai... |
OMIM:617585 |
| Bleeding Disorder, Platelet-Type, 25 |
|
Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Impaired coll... |
OMIM:620486 |
| Immunodeficiency 50 |
|
Eczematoid dermatitis, Recurrent urinary tract infections, Lymphopenia, Neutropenia, Decreased ci... |
OMIM:300988 |
| C3 Glomerulopathy 3 |
|
Thickening of glomerular capillary wall, Stage 5 chronic kidney disease, Renal insufficiency, Mes... |
OMIM:614809 |
| Primary Membranoproliferative Glomerulonephritis |
|
Hypoalbuminemia, Chronic kidney disease, Acute kidney injury, Stage 5 chronic kidney disease, Ren... |
ORPHA:54370 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Increased circulating ferritin concentration, Hepatosplenomegaly, Erythroid hyperplasia, Splenome... |
OMIM:616860 |
| Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Eosinophilia, Myeloproliferative disorder |
OMIM:131440 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
| Nephrotic Syndrome, Type 23 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Steroid-resistant nephroti... |
OMIM:619201 |
| Cernunnos-Xlf Deficiency |
|
Lymphopenia, Autoimmunity, T lymphocytopenia, Thrombocytopenia, B lymphocytopenia, Anemia, Decrea... |
ORPHA:169079 |
| Ichthyosis-Prematurity Syndrome |
|
Eosinophilia |
ORPHA:88621 |
| Immunodeficiency 67 |
|
Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co... |
OMIM:607676 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Pustular rash, Rheumatoid factor positive, Lymphopenia, Leukopenia, Malar rash, Follicular hyperp... |
OMIM:615934 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Osteopenia, Hypocholesterolemia, Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia |
OMIM:610539 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hemophagocytosis, Hepatitis, ... |
OMIM:300635 |
| Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
| Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia |
ORPHA:2582 |
| Juvenile Temporal Arteritis |
|
Eosinophilia, Leukocytosis |
ORPHA:26137 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Absent... |
OMIM:619846 |
| Immunodeficiency 114, Folate-Responsive |
|
Decreased circulating IgG level, Atopic dermatitis, Increased circulating ferritin concentration,... |
OMIM:620603 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Thrombocytosis, Leukocytosis, Recurrent sinusitis, B lymphocytopenia, Monocytosis |
OMIM:619281 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
Pneumonia, Atopic dermatitis, Increased circulating IgE level, Recurrent sinusitis, B lymphocytop... |
ORPHA:217390 |
| Immunodeficiency 102 |
|
Decreased proportion of CD4-positive helper T cells, Hepatomegaly, Recurrent skin infections, Aut... |
OMIM:301082 |
| Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
| Hemoglobin H Disease |
|
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia |
OMIM:613978 |
| Slc35A1-Cdg |
|
Thrombocytopenia, Neutropenia, Giant platelets, Abnormal platelet granules |
ORPHA:238459 |
| Immunodeficiency 8 With Lymphoproliferation |
|
Recurrent otitis media, Lymphopenia, Complete or near-complete absence of specific antibody respo... |
OMIM:615401 |
| Igg4-Related Aortitis |
|
Increased circulating IgE level, Increased circulating IgG4 level, Reduced circulating complement... |
ORPHA:449400 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis |
OMIM:603529 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 3 |
|
Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ... |
OMIM:620430 |
| Cyclic Neutropenia |
|
Recurrent tonsillitis, Periodontitis, Cervical lymphadenopathy, Lymphopenia, Cyclic neutropenia, ... |
ORPHA:2686 |
| Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Mediasti... |
OMIM:619802 |
| Erythroleukemia, Familial, Susceptibility To |
|
Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen... |
OMIM:133180 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Hepatomegaly, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Abnormally low T cell receptor excision circle level, Pneumonia, Panhypogammaglobulinemia, Increa... |
OMIM:602450 |
| Immunoglobulin A Deficiency 1 |
|
Decreased circulating IgA level, Autoimmunity |
OMIM:137100 |
| Iga Pemphigus |
|
Cutaneous abscess, Neutrophilic infiltration of the skin, Pustule, Eosinophilia, Increased circul... |
ORPHA:555905 |
| Idiopathic Non-Lupus Full-House Nephropathy |
|
Acute kidney injury, Reduced circulating complement concentration, Abnormal glomerular mesangium ... |
ORPHA:567544 |
| Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections |
|
Atopic dermatitis, Gastroesophageal reflux, Increased circulating IgE level, Eosinophilic infiltr... |
OMIM:620532 |
| Immunodeficiency 113 With Autoimmunity And Autoinflammation |
|
Minimal change glomerulonephritis, Intraalveolar phospholipid accumulation, Hepatitis, Eczematoid... |
OMIM:620565 |
| Atypical Hemolytic Uremic Syndrome |
|
Decreased circulating complement factor B concentration, Abnormality of complement system, Acute ... |
ORPHA:2134 |
| Nephrotic Syndrome, Type 24 |
|
Focal segmental glomerulosclerosis, Renal cortical hyperechogenicity, Steroid-resistant nephrotic... |
OMIM:619263 |
| Complement Component 4A Deficiency |
|
Decreased circulating complement C4 concentration, Glomerulonephritis, Reduced circulating CH50 a... |
OMIM:614380 |
| Nevoid Hypermelanosis, Linear And Whorled |
|
Eosinophilia |
OMIM:614323 |
| Pulmonary Nodular Lymphoid Hyperplasia |
|
Mediastinal lymphadenopathy, Follicular hyperplasia, Autoimmune antibody positivity, Plasmacytosis |
ORPHA:60026 |
| Immunodeficiency 70 |
|
Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, Recurrent s... |
OMIM:618969 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Decreased circulating IgG level, Reduced natural killer cell count, Recurrent pneumonia, Atopic d... |
OMIM:619752 |
| Myh9-Related Disease |
|
Neutrophil inclusion bodies, Giant platelets, Congenital thrombocytopenia, Increased mean platele... |
ORPHA:182050 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Inflammatory abnormality of the skin, Diarrhea, Increased circulating IgE level, Lymphopenia, Apl... |
OMIM:102700 |
| Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Keratitis, Eczematoid dermatitis, Increased circulating IgE level, Recurrent otitis media, Eosino... |
OMIM:618523 |
| Immunodeficiency 33 |
|
Decreased circulating total IgM, Increased circulating IgA level |
OMIM:300636 |
| Complement Component C1S Deficiency |
|
Hashimoto thyroiditis, Abnormality of complement system, Hepatitis, Systemic lupus erythematosus |
OMIM:613783 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Hepatomegaly, Jaund... |
OMIM:603552 |
| Adult Idiopathic Neutropenia |
|
Lymphopenia, Recurrent aphthous stomatitis, Neutropenia, Monocytosis, Monocytopenia, Increased ci... |
ORPHA:2688 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat... |
OMIM:603902 |
| Thrombocytopenia 2 |
|
Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia |
OMIM:188000 |
| Generalized Eruptive Histiocytosis |
|
Leukemia, Hypereosinophilia, Histiocytosis |
ORPHA:157991 |
| Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat... |
OMIM:611926 |
| Lymphoproliferative Syndrome 3 |
|
Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci... |
OMIM:618261 |
| Malaria |
|
Hyperbilirubinemia, Gait imbalance, Anemia, Thrombocytopenia, Elevated circulating C-reactive pro... |
ORPHA:673 |
| Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag |
|
Monoclonal immunoglobulin M proteinemia |
ORPHA:639 |
| Immunodeficiency 15B |
|
Reduced natural killer cell count, Monocytosis |
OMIM:615592 |
| Hereditary Progressive Mucinous Histiocytosis |
|
Mucinous histiocytosis |
ORPHA:158025 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Bone marrow hypocellularity, Impaired platelet aggregation, Ell... |
OMIM:300835 |
| Pgm3-Cdg |
|
Allergic rhinitis, Abnormal CD4:CD8 ratio, Increased circulating IgE level, Lymphopenia, Esophagi... |
ORPHA:443811 |
| Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Increased LDL cholesterol concentration, Hypertriglyceridemia, Splenomega... |
OMIM:607616 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Decreased CD4:CD8 ... |
OMIM:300853 |
| Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Gait disturbance, Splenomegaly, Ataxia |
ORPHA:2274 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Ataxia-Pancytopenia Syndrome |
|
Ataxia, Acute myelomonocytic leukemia, Pancytopenia, Dysmetria, Thrombocytopenia, Neutropenia, An... |
OMIM:159550 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
| Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Atopic dermatitis, Decreased proportion of memory B cells, Decreased specific anti-polysaccharide... |
ORPHA:70593 |
| Iron-Refractory Iron Deficiency Anemia |
|
Poikilocytosis, Elevated circulating hepcidin concentration, Hypochromic microcytic anemia, Aniso... |
OMIM:206200 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia |
ORPHA:231401 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... |
OMIM:300908 |
| Chilblain Lupus |
|
Discoid lupus rash, Inflammatory abnormality of the skin, Systemic lupus erythematosus, Chronic m... |
ORPHA:90280 |
| Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Giant platelets, Thrombo... |
OMIM:231200 |
| Nephrotic Syndrome, Type 10 |
|
Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Podo... |
OMIM:615861 |
| Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy |
|
Monoclonal immunoglobulin M proteinemia, Cryoglobulinemia |
ORPHA:209004 |
| Bone Marrow Failure Syndrome 2 |
|
Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia |
OMIM:615715 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased specific anti-polysaccharide anti... |
OMIM:606367 |
| Autoinflammatory-Pancytopenia Syndrome |
|
Cholestatic liver disease, Hepatic fibrosis, Granuloma, Hemophagocytosis, Hepatosplenomegaly, Pan... |
OMIM:619858 |
| Igg4-Related Kidney Disease |
|
Chronic kidney disease, Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Increased... |
ORPHA:449395 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Recurrent otitis media, Agammaglobulinemia, Absent circulating B cells, Neutropenia, Abnormal T c... |
OMIM:613501 |
| Boutonneuse Fever |
|
Cervical lymphadenopathy, Leukopenia, Renal insufficiency, Skin rash, Maculopapular exanthema, Ly... |
ORPHA:83313 |
| Overhydrated Hereditary Stomatocytosis |
|
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... |
ORPHA:3203 |
| Immunodeficiency 48 |
|
Pneumonia, Eczematoid dermatitis, Panhypogammaglobulinemia, Abnormal B cell count, Splenomegaly, ... |
OMIM:269840 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Impaired platelet aggregation, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Incre... |
OMIM:617443 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Abnor... |
ORPHA:331206 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Lymphopenia, Lymph node hypoplasia, Decreased proportion of CD4-positive helper T cells, Abnormal... |
ORPHA:276 |
| Immunodeficiency 85 And Autoimmunity |
|
Decreased proportion of memory B cells, Reduced natural killer cell count, Decreased circulating ... |
OMIM:619510 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Decreased circulating IgG level, Eczematoid dermatitis, Lymphopenia, Decrease... |
OMIM:616100 |
| Sitosterolemia 1 |
|
Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Reticulocytosis, Reduced haptoglobi... |
OMIM:210250 |
| Cinca Syndrome |
|
Hepatosplenomegaly, Leukocytosis, Eosinophilia, Anemia, Lymphadenopathy, Elevated circulating C-r... |
OMIM:607115 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Leukocytosis, Panniculitis, Skin rash, Increased proportion of CD4-positive T cells, Increased ci... |
OMIM:617099 |
| Focal Segmental Glomerulosclerosis 10 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... |
OMIM:256020 |
| Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Nephrotic syndrome, Renal insufficiency, Glomerulonephritis, Glomerular deposits |
ORPHA:69063 |
| Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
| Macrophage Activation Syndrome |
|
Hemophagocytosis, Systemic lupus erythematosus, Elevated circulating alanine aminotransferase con... |
ORPHA:158061 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubin... |
OMIM:613673 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Abnormal natu... |
OMIM:613101 |
| Reticular Dysgenesis |
|
Impaired T cell function, Lack of T cell function, Lymphopenia, Congenital agranulocytosis, Leuko... |
OMIM:267500 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Pneumonia, Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mit... |
ORPHA:169160 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Splenomegaly, Hypertriglyceridemia |
OMIM:619175 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
| Amegakaryocytic Thrombocytopenia, Congenital, 1 |
|
Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia |
OMIM:604498 |
| Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia |
OMIM:619523 |
| Fanconi Anemia, Complementation Group G |
|
Leukemia, Anemia, Neutropenia, Thrombocytopenia |
OMIM:614082 |
| Immunodeficiency 7 |
|
Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia, Hepat... |
OMIM:615387 |
| Focal Segmental Glomerulosclerosis 1 |
|
Hypoalbuminemia, Focal segmental glomerulosclerosis, Hyperechogenic kidneys, Ascites, Stage 5 chr... |
OMIM:603278 |
| Omenn Syndrome |
|
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Lymphadenopathy, Thro... |
OMIM:603554 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Diarrhea, Decreased lymphocyte proliferation in response to an... |
OMIM:619313 |
| Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
| Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
| Refractory Anemia |
|
Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi... |
ORPHA:98826 |
| Benign Cephalic Histiocytosis |
|
Histiocytosis |
ORPHA:157997 |
| Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Atopic dermatitis, Recurrent pneumonia, Cutaneous abscess, Eczematoid dermatitis, Chronic mucocut... |
OMIM:618282 |
| Lymphoproliferative Syndrome 1 |
|
Decreased circulating IgG level, Hemophagocytosis, Increased circulating ferritin concentration, ... |
OMIM:613011 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Hyperbilirubinemia, Reticulocytosis, ... |
OMIM:224120 |
| T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Abnormally low T cell receptor excision circle level, T lymphocytopenia |
OMIM:618806 |
| Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ... |
OMIM:619130 |
| Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impaired collagen-relate... |
OMIM:153670 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke... |
OMIM:619041 |
| Simple Cryoglobulinemia |
|
Nephritis, Monoclonal immunoglobulin M proteinemia, Paraproteinemia, Reduced circulating compleme... |
ORPHA:91139 |
| Immunodeficiency 19 |
|
Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology |
OMIM:615617 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Allergic rhinitis, Atopic dermatitis, Reduced natural killer cell count, Recurrent pneumonia, Cut... |
OMIM:243700 |
| Sea-Blue Histiocyte Disease |
|
Cirrhosis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis |
OMIM:269600 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... |
ORPHA:75564 |
| Nephrotic Syndrome, Type 26 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Steroid-r... |
OMIM:620049 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia, Abn... |
OMIM:615214 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Increased size of the mandible, Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
| Immunodeficiency 23 |
|
Allergic rhinitis, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Rheumatoid factor po... |
OMIM:615816 |
| Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Antinuclear antibody positivity, Lymphade... |
OMIM:618852 |
| Folate Malabsorption, Hereditary |
|
Ataxia, Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia, Athetosis |
OMIM:229050 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Atopic dermatitis, Increased circulating IgE level, Hypereosinophilia, Leukocytosis, Autoimmunity... |
ORPHA:2902 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Decreased circulating IgG level, Bone marrow hypocellularity, Antineutrophil antibody positivity,... |
OMIM:301078 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn... |
OMIM:613092 |
| Myelolymphatic Insufficiency |
|
Leukopenia, Hyposegmentation of neutrophil nuclei |
OMIM:310350 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia |
OMIM:166990 |
| Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... |
ORPHA:2133 |
| Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... |
OMIM:263300 |
| Thymoma |
|
Rheumatoid arthritis, Aplastic anemia, Imbalanced hemoglobin synthesis, Systemic lupus erythemato... |
ORPHA:99867 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, C... |
ORPHA:37042 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hemophagocytosis, Hepatosplenomegaly, Anemia, Reduced natural killer cell activity, Granulocytopenia |
OMIM:608898 |
| Insulin Autoimmune Syndrome |
|
Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody level, Arthralgia/arth... |
ORPHA:411593 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Anemia, Macrothrombocytopenia, Thrombocytopenia |
OMIM:616176 |
| Acquired Partial Lipodystrophy |
|
Autoimmunity, Hepatic steatosis, Proteinuria, Glomerulopathy, Lymphocytosis, Decreased circulatin... |
ORPHA:79087 |
| Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopen... |
OMIM:619644 |
| Genetic Steroid-Resistant Nephrotic Syndrome |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Chronic kidney disease, St... |
ORPHA:656 |
| Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities |
|
Abnormally low T cell receptor excision circle level, Eosinophilia, Unsteady gait |
OMIM:618092 |
| Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly, Hyperlipoproteinemia |
OMIM:118830 |
| Spastic Paraplegia, Sensorineural Deafness, Impaired Intellectual Development, And Progressive Nephropathy |
|
Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus |
OMIM:182690 |
| Erythrocytosis, Familial, 8 |
|
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... |
OMIM:222800 |
| Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Atopic dermatitis, Hepatosplenomegaly, Hepatic cysts, Colonic eosinophilia, Eosinophilia, Membran... |
OMIM:618999 |
| Immunodeficiency 11A |
|
Agammaglobulinemia, Decreased circulating antibody level, Reduced antigen-specific T cell prolife... |
OMIM:615206 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Difficulty walking, Eosinophilia, Elevated circulating creatine kinase concentration |
OMIM:253600 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Galactosemia I |
|
Increased level of galactitol in red blood cells, Aminoaciduria, Galactosuria, Reduced erythrocyt... |
OMIM:230400 |
| Nephrotic Syndrome, Type 9 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:615573 |
| Nephrotic Syndrome, Type 13 |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s... |
OMIM:616893 |
| Focal Segmental Glomerulosclerosis 7 |
|
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria... |
OMIM:616002 |
| Nephrotic Syndrome, Type 18 |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... |
OMIM:618177 |
| Nephrotic Syndrome, Type 19 |
|
Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 3 ch... |
OMIM:618178 |
| Nephrotic Syndrome, Type 20 |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... |
OMIM:301028 |
| Hyper-Igd Syndrome |
|
Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Skin rash, Elevated urine mevaloni... |
OMIM:260920 |
| Pelger-Huet Anomaly |
|
Giant platelets, Hyposegmentation of neutrophil nuclei, Thrombocytopenia, Neutropenia, Abnormalit... |
OMIM:169400 |
| Immunodeficiency 75 With Lymphoproliferation |
|
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Follicular hyperplasia... |
OMIM:619126 |
| Alpha-Heavy Chain Disease |
|
Ascites, Splenomegaly, Dysgammaglobulinemia, Hepatomegaly, Lymphadenopathy, Anemia |
ORPHA:100025 |
| Focal Segmental Glomerulosclerosis 8 |
|
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease |
OMIM:616032 |
| Immunodeficiency 43 |
|
Decreased circulating IgG level, Reduced natural killer cell count, Decreased specific antibody r... |
OMIM:241600 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Elevated circulating creatinine concentration, Pancytopenia, Hepatic steatosis, Increased blood u... |
OMIM:617872 |
| Diamond-Blackfan Anemia 19 |
|
Anemia, Erythroid hypoplasia, Steroid-responsive anemia |
OMIM:618312 |
| Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Abnormal circulating lipid concentration, Hepatic steatosis, Proteinuria, Hematuria, Membranoprol... |
OMIM:608709 |
| Preeclampsia/Eclampsia 1 |
|
Thrombocytopenia |
OMIM:189800 |
| Rh-Null, Amorph Type |
|
Stomatocytosis, Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Hemolytic anemia |
OMIM:617970 |
| Nephrotic Syndrome, Type 17 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:618176 |
| Peeling Skin Syndrome 1 |
|
Increased circulating IgE level, Eosinophilia, Erythroderma |
OMIM:270300 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmunity, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropi... |
ORPHA:231154 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:300861 |
| Nephronophthisis 13 |
|
Renal hypoplasia, Nephronophthisis, Stage 5 chronic kidney disease, Intrahepatic bile duct dilata... |
OMIM:614377 |
| Immunodeficiency With Hyper-Igm, Type 4 |
|
Absence of lymph node germinal center, Osteomyelitis, Autoimmune hemolytic anemia, Impaired Ig cl... |
OMIM:608184 |
| Reticuloendotheliosis, X-Linked |
|
Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy |
OMIM:312500 |
| Bilateral Striopallidodentate Calcinosis |
|
Hepatomegaly, Abnormality of the liver, Thrombocytopenia |
ORPHA:1980 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Cholestatic liver disease, Inflammation of the large intestine, Granuloma, Cholestasis, Interface... |
ORPHA:562639 |
| Immunodeficiency 92 |
|
Pneumonia, Decreased circulating IgG level, Partial absence of specific antibody response to teta... |
OMIM:619652 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Intrahepatic cholestasis, Giant cell hepatitis, Rickets, Hypocholesterolemia, Splenomegaly, Hepat... |
OMIM:607765 |
| Nephrotic Syndrome, Type 16 |
|
Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria |
OMIM:617783 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Abnormality of humoral immunity, Abnormal CD4:CD8 ratio, Pancytopenia, Decreased proportion of CD... |
ORPHA:572 |
| Immunodeficiency 21 |
|
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... |
OMIM:614172 |
| Focal Segmental Glomerulosclerosis 2 |
|
Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Prote... |
OMIM:603965 |
| Immunodeficiency 22 |
|
Decreased circulating IgG level, Diarrhea, Protracted diarrhea, Decreased circulating IgA level, ... |
OMIM:615758 |
| Cystic Echinococcosis |
|
Cholestatic liver disease, Peritoneal abscess, Elevated gamma-glutamyltransferase level, Elevated... |
ORPHA:400 |
| Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
| Familial Mediterranean Fever |
|
Renal amyloidosis, Diarrhea, Erysipelas, Vomiting, Stage 5 chronic kidney disease, Leukocytosis, ... |
OMIM:249100 |
| Focal Segmental Glomerulosclerosis 9 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome |
OMIM:616220 |
| Systemic Lupus Erythematosus 17 |
|
Myelitis, Anti-aquaporin 4 antibody positivity, Systemic lupus erythematosus, Lymphopenia, Leukop... |
OMIM:301080 |
| Immunodeficiency 69 |
|
Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Pancytopenia,... |
OMIM:618963 |
| Immunodeficiency 57 With Autoinflammation |
|
Inflammation of the large intestine, Partial absence of specific antibody response to tetanus vac... |
OMIM:618108 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Acute kidney injury, Stage... |
ORPHA:567548 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Panhypogammaglobulinemia, Otitis media, Purulent rhinitis, Arthritis, B lymphocytopeni... |
OMIM:601457 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
Decreased circulating IgG level, Panuveitis, Osteomyelitis, Hepatosplenomegaly, Panniculitis, Com... |
OMIM:301081 |
| Immunodeficiency 51 |
|
Pneumonia, Folliculitis, Cutaneous abscess, Eczematoid dermatitis, Chronic mucocutaneous candidia... |
OMIM:613953 |
| Hyperbilirubinemia, Shunt, Primary |
|
Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Anemia of inadequate production, Reticul... |
OMIM:237800 |
| Idiopathic Pulmonary Hemosiderosis |
|
Antineutrophil antibody positivity, Hepatosplenomegaly, Cardiomegaly, Antinuclear antibody positi... |
ORPHA:99931 |
| Bacterial Toxic-Shock Syndrome |
|
Diarrhea, Abscess, Glomerulonephritis, Recurrent skin infections, Osteomyelitis, Renal insufficie... |
ORPHA:36234 |
| Amegakaryocytic Thrombocytopenia, Congenital, 2 |
|
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia... |
OMIM:620481 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Inflammation of the large intestine, Psoriasiform dermatitis, Hepatomegaly, Autoimmune thrombocyt... |
ORPHA:436159 |
| Aicardi-Goutieres Syndrome 6 |
|
Splenomegaly, Loss of ambulation, Thrombocytopenia, Hepatomegaly, Hemolytic anemia |
OMIM:615010 |
| Trimethylaminuria |
|
Anemia, Splenomegaly, Neutropenia |
OMIM:602079 |
| Immunodeficiency 76 |
|
Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia |
OMIM:619164 |
| Ataxia-Pancytopenia Syndrome |
|
Ataxia, Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly... |
ORPHA:2585 |
| Gray Platelet Syndrome |
|
Abnormality of thrombocytes, Splenomegaly, Thrombocytopenia |
ORPHA:721 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Recurrent ... |
OMIM:618986 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... |
OMIM:612926 |
| Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Hepatomegaly, Anemia, Jaundice |
OMIM:613977 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hypomagnesemia, Pancytopenia, Leukopenia, Hyperuricemia, Hyponatremia, Increased blood urea nitro... |
OMIM:613845 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased circulating IgG level, Crohn's disease, Agammaglobulinemia, Absent circulating B cells,... |
OMIM:619705 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Gout, Renal cyst, Neutro... |
OMIM:617056 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Abnormality of thrombocytes, Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepato... |
OMIM:612840 |
| Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
| Multiple Myeloma |
|
Nephropathy, Nephrotic syndrome, Acute kidney injury, Splenomegaly, Abnormality of the bladder, I... |
ORPHA:29073 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutropenia, Monocytosis, Leu... |
ORPHA:486 |
| Myeloproliferative Syndrome, Transient |
|
Leukocytosis, Transient myeloproliferative syndrome |
OMIM:159595 |
| Fusariosis |
|
Pneumonia, Granuloma, Brain abscess, Keratitis, Fasciitis, Abnormality of the spleen, Lymphopenia... |
ORPHA:228119 |
| X-Linked Agammaglobulinemia |
|
Recurrent pneumonia, Hepatitis, Conjunctivitis, Osteomyelitis, Autoimmunity, Hypocalcemia, Skin r... |
ORPHA:47 |
| Primary Biliary Cholangitis |
|
Elevated gamma-glutamyltransferase level, Elevated circulating alkaline phosphatase concentration... |
ORPHA:186 |
| Thrombocytopenia 9 |
|
Abnormal platelet aggregation, Thrombocytopenia |
OMIM:620478 |
| Focal Segmental Glomerulosclerosis 6 |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Hematuria, Nephr... |
OMIM:614131 |
| Immunodeficiency 96 |
|
Decreased circulating IgG level, Multicystic kidney dysplasia, Increased mean corpuscular volume,... |
OMIM:619774 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypocholesterolemia, Acanthocytosis, Retinal degeneratio... |
OMIM:615558 |
| Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Decreased circulating IgG level, Decreased circulating IgA level, Autoimmunity, Recurrent aphthou... |
ORPHA:275 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... |
OMIM:612924 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Increased circulating iron concentration, Increased mean corpuscular volume, Increased total iron... |
ORPHA:98870 |
| Immunodeficiency 15A |
|
Decreased proportion of CD8-positive T cells, Decreased proportion of memory B cells, Decreased p... |
OMIM:618204 |
| Immunodeficiency, Common Variable, 13 |
|
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, B lymphocytopenia |
OMIM:616873 |
| Microscopic Polyangiitis |
|
Uveitis, Oliguria, Diarrhea, Gastrointestinal hemorrhage, Autoimmunity, Renal insufficiency, Epis... |
ORPHA:727 |
| Lysinuric Protein Intolerance |
|
Abnormality of humoral immunity, Hemophagocytosis, Increased LDL cholesterol concentration, Hepat... |
ORPHA:470 |
| Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Decreased circulating IgG level, Recurrent urinary tract infections, Lymphopenia, Leukopenia, Spl... |
OMIM:620210 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation |
OMIM:124900 |
| Eosinophilic Gastroenteritis |
|
Hypoalbuminemia, Ascites, Leukocytosis, Eosinophilia, Anemia, Elevated circulating C-reactive pro... |
ORPHA:2070 |
| Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Nephritis, Reduced circulating complement concentration, Autoimmunity, Arthritis |
OMIM:216950 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
| Shigellosis |
|
Microangiopathic hemolytic anemia, Urethritis, Cholestasis, Abscess, Bloody mucoid diarrhea, Acut... |
ORPHA:810 |
| Fetal Parvovirus Syndrome |
|
Anemia, Ascites, Thrombocytopenia |
ORPHA:295 |
| Cyclic Neutropenia |
|
Cyclic neutropenia |
OMIM:162800 |
| Eosinophilopenia |
|
Decreased eosinophil count |
OMIM:131430 |
| Deafness, Neural, With Atypical Atopic Dermatitis |
|
Increased circulating IgE level, Late onset atopic dermatitis |
OMIM:221700 |
| Focal Segmental Glomerulosclerosis 4, Susceptibility To |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease |
OMIM:612551 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... |
ORPHA:251380 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Pneumonia, Decreased circulating IgG level, Decreased circulating IgA level, B lymphocytopenia, D... |
OMIM:614069 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Hypoalbuminemia, Bone marrow hypocellularity, Focal segmental glomerulosclerosis, Nephritis, Recu... |
OMIM:617303 |
| Whim Syndrome 1 |
|
Decreased circulating IgG level, Decreased circulating antibody level, Bronchiectasis, Neutropenia |
OMIM:193670 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Decreased circulating iron concentration, Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, ... |
OMIM:616959 |
| Immunodeficiency 46 |
|
Conjunctivitis, Neutropenia, Anemia, Intermittent thrombocytopenia, Decreased circulating antibod... |
OMIM:616740 |
| Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,... |
OMIM:310468 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Anemia, Chronic neutropenia, Thrombocytopenia |
OMIM:619302 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... |
OMIM:612925 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Splenomegaly, Hyperammonemia, Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia, ... |
ORPHA:79312 |
| Nephrotic Syndrome, Type 15 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Steroid-resistant... |
OMIM:617609 |
| Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... |
ORPHA:521 |
| Immunodeficiency 49 |
|
Abnormally low T cell receptor excision circle level, Natal tooth, Lymphopenia, Micrognathia, Eos... |
OMIM:617237 |
| Reni Syndrome |
|
Hypoalbuminemia, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Lympho... |
OMIM:617575 |
| Focal Segmental Glomerulosclerosis 5 |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Microscopic hema... |
OMIM:613237 |
| Diffuse Alveolar Hemorrhage |
|
Antineutrophil antibody positivity, Elevated circulating creatinine concentration, Autoimmunity, ... |
ORPHA:90060 |
| Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Decreased circulating total IgM |
OMIM:615139 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia |
OMIM:616738 |
| Immunodeficiency 115 With Autoinflammation |
|
Decreased circulating IgG level, Eczematoid dermatitis, Intestinal lymphangiectasia, Superficial ... |
OMIM:620632 |
| Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Mesangial hypercellularity, Antinuclear antibody positivity, Arthritis, Elevated circulating C-re... |
OMIM:616414 |
| Nephrotic Syndrome, Type 2 |
|
Hypoalbuminemia, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Hyperlipidem... |
OMIM:600995 |
| Insulin-Resistance Syndrome Type B |
|
Systemic lupus erythematosus, Increased circulating IgA level, Hypotriglyceridemia, Enlarged poly... |
ORPHA:2298 |
| Ige Responsiveness, Atopic |
|
Increased circulating IgE level, Allergic rhinitis, Eczematoid dermatitis |
OMIM:147050 |
| Omenn Syndrome |
|
Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Hepatomegaly, Eosinophilia, Lymphaden... |
ORPHA:39041 |
| Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Focal segmental glomerulosclerosis, Proteinuria, Hematuria, Renal insufficiency |
OMIM:607832 |
| Wiskott-Aldrich Syndrome 2 |
|
Eczematoid dermatitis, Decreased proportion of CD8-positive T cells, Defective T cell proliferati... |
OMIM:614493 |
| Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
| Transient Erythroblastopenia Of Childhood |
|
Anemia, Transient erythroblastopenia |
OMIM:227050 |
| Rosaï-Dorfman Disease |
|
Anemia, Dysgammaglobulinemia, Lymphadenopathy |
ORPHA:158014 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Leukopenia, Hyperammonemia, Macrocytic anemia, Hepatomegaly, Pancreatitis, Thrombocytopenia, Atax... |
ORPHA:27 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruction, Per... |
ORPHA:343 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Pneumonia, Reduced natural killer cell count, Decreased circulating IgA level, T lymphocytopenia,... |
OMIM:242860 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hyperammonemia, Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia, Choreoathetosis |
ORPHA:289916 |
| Immunodeficiency 104 |
|
Pneumonia, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Recurrent otitis media, Sple... |
OMIM:608971 |
| Thrombocytopenia 5 |
|
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... |
OMIM:616216 |
| Familial Mediterranean Fever, Autosomal Dominant |
|
Renal amyloidosis, Erysipelas, Renal insufficiency, Proteinuria, Peritonitis |
OMIM:134610 |
| Q Fever |
|
Hepatosplenomegaly, Increased circulating antibody level, Lupus anticoagulant, Antiphospholipid a... |
ORPHA:781 |
| Rh Deficiency Syndrome |
|
Stomatocytosis, Hepatosplenomegaly, Hyperbilirubinemia, Reticulocytosis, Reduced haptoglobin leve... |
ORPHA:71275 |
| Roch-Leri Mesosomatous Lipomatosis |
|
Thrombocytopenia |
ORPHA:529 |
| Primary Myelofibrosis |
|
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Portal hypertension... |
ORPHA:824 |
| Wiskott-Aldrich Syndrome |
|
Nephropathy, Inflammation of the large intestine, Diarrhea, Decreased proportion of CD8-positive ... |
OMIM:301000 |
| Schimke Immuno-Osseous Dysplasia |
|
Nephropathy, Bone marrow hypocellularity, Minimal change glomerulonephritis, Focal segmental glom... |
ORPHA:1830 |
| Lymphangiectasia, Intestinal |
|
Decreased circulating IgG level, Lymphopenia, Intestinal lymphangiectasia |
OMIM:152800 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Decreased urinary urate, Im... |
OMIM:613179 |
| Specific Granule Deficiency 1 |
|
Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent neutrophil lactoferrin,... |
OMIM:245480 |
| Peroxisome Biogenesis Disorder 3B |
|
Elevated circulating phytanic acid concentration, Hypocholesterolemia, Hepatomegaly, Rod-cone dys... |
OMIM:266510 |
| Fanconi Anemia, Complementation Group V |
|
Bone marrow hypocellularity, Thrombocytopenia, Neutropenia, Anemia, Elevated circulating alpha-fe... |
OMIM:617243 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto... |
OMIM:614700 |
| Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Ataxia, Howell-Jolly bodies, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyperplasia, Dy... |
OMIM:301310 |
| Drug-Induced Lupus Erythematosus |
|
Elevated circulating creatine kinase concentration, Anemia, Increased blood urea nitrogen, Thromb... |
ORPHA:231111 |
| Nephrotic Syndrome, Type 6 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... |
OMIM:614196 |
| Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Proteinuria, Hematuria, Membranoproliferative glomerulonephritis, Nephrotic syndrome, Decreased c... |
OMIM:613913 |
| Leishmaniasis |
|
Pancytopenia, Leukopenia, Abnormal macrophage morphology, Splenomegaly, Increased circulating ant... |
ORPHA:507 |
| Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Enterocolitis, Mesangial hypercellularity |
OMIM:620425 |
| Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hyperleucinemia, Hyperammonemia, Hypervalinemia, Increased blood urea nitrogen, Hyperisoleucinemia |
OMIM:620085 |
| Netherton Syndrome |
|
Allergic rhinitis, Decreased circulating IgG level, Eczematoid dermatitis, Increased circulating ... |
OMIM:256500 |
| Wells Syndrome |
|
Eosinophilia |
ORPHA:901 |
| Immunodeficiency 35 |
|
Increased circulating IgE level |
OMIM:611521 |
| Griscelli Syndrome |
|
Bone marrow hypocellularity, Hepatitis, Abnormal circulating lipid concentration, Ascites, Leukop... |
ORPHA:381 |
| Spastic Paraplegia And Evans Syndrome |
|
Autoimmune thrombocytopenia, Coombs-positive hemolytic anemia |
OMIM:601608 |
| Palmoplantar Keratoderma, Epidermolytic, 1 |
|
Increased circulating IgE level |
OMIM:144200 |
| Thrombocytopenia 1 |
|
Decreased mean platelet volume, Eczematoid dermatitis, Increased circulating IgE level, Increased... |
OMIM:313900 |
| Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hypoalbuminemia, Portal fibrosis, Increased total bilirubin, Splenomegaly, Increased serum bile a... |
OMIM:619868 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Lymphadenitis, Abnormal lymph node morphology, Decreased proportion of CD8-positive T cells, Hepa... |
ORPHA:911 |
| Postinfectious Vasculitis |
|
Abnormality of humoral immunity, Inflammatory abnormality of the skin, Increased circulating anti... |
ORPHA:48435 |
| Igg4-Related Submandibular Gland Disease |
|
Abnormal pancreas morphology, Increased circulating IgE level, Increased circulating IgG4 level, ... |
ORPHA:449432 |
| Nephrotic Syndrome, Type 4 |
|
Focal segmental glomerulosclerosis, Renal insufficiency, Nephroblastoma, Diffuse mesangial sclero... |
OMIM:256370 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Elevated circula... |
OMIM:614455 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Exocrine pancreatic insufficiency, Hepatosplenomegaly, Autoimmune hemolytic anemia, Eosinophilia,... |
OMIM:615952 |
| Oculorenocerebellar Syndrome |
|
Nephropathy, Glomerular sclerosis |
OMIM:257970 |
| Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Decreased circulating IgA level, Interstitial pneumonitis, Enterocolitis, Decreased proportion of... |
OMIM:614878 |
| Coccidioidomycosis |
|
Abnormality of the spleen, Morbilliform rash, Abscess, Abnormality of the kidney, Erythema nodosu... |
ORPHA:228123 |
| Aicardi-Goutieres Syndrome 3 |
|
Hepatosplenomegaly, Thrombocytopenia |
OMIM:610329 |
| Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay |
|
Platelet anisocytosis, Mandibular prognathia, Thrombocytopenia, Increased mean platelet volume |
OMIM:620475 |
| Agammaglobulinemia, X-Linked |
|
Recurrent otitis media, Lymph node hypoplasia, Prostatitis, Neutropenia, Epididymitis, Pyoderma, ... |
OMIM:300755 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Micrognathia, Retrognathia, Anisocytosis |
OMIM:604273 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Acute kidney injury, Diarrhea, Vomiting, Anuria, Microangiopathic hemolytic anemia, Bloody diarrh... |
ORPHA:90038 |
| Bone Marrow Failure Syndrome 4 |
|
Bone marrow hypocellularity, Eczematoid dermatitis, Leukopenia, Thrombocytopenia, Anemia, Decreas... |
OMIM:618116 |
| Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
| Alport Syndrome 3B, Autosomal Recessive |
|
Thin glomerular basement membrane, Stage 5 chronic kidney disease, Renal insufficiency, Proteinur... |
OMIM:620536 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... |
ORPHA:98849 |
| Immunodeficiency 16 |
|
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly |
OMIM:615593 |
| Galloway-Mowat Syndrome 8 |
|
Hypoalbuminemia, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Hematuria, P... |
OMIM:618349 |
| Hereditary Folate Malabsorption |
|
Eosinophilia, Pancytopenia, Megaloblastic anemia, Thrombocytopenia |
ORPHA:90045 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Abnormal circulating IgG level, Dysgammaglobulinemia, Increased circulating IgA level, Reduced na... |
OMIM:300291 |
| Whim Syndrome 2 |
|
Chronic neutropenia |
OMIM:619407 |
| Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Portal hypertension, Splenomegaly, Cholecystitis, Intestinal obstruc... |
ORPHA:131 |
| X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
| Apolipoprotein C-Ii Deficiency |
|
Increased circulating chylomicron concentration, Splenomegaly, Hypercholesterolemia, Decreased ci... |
OMIM:207750 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
| Sodium-Dependent Multivitamin Transporter Deficiency |
|
Decreased circulating IgG level |
OMIM:618973 |
| Tularemia |
|
Pneumonia, Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Abnormal nasopharyngeal ad... |
ORPHA:3392 |
| Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Uveitis, Diarrhea, Vomiting, Erysipelas, Fasciitis, Leukocytosis, Splenomegaly, Skin rash, Orchit... |
ORPHA:32960 |
| Necrotizing Enterocolitis |
|
Diarrhea, Vomiting, Leukocytosis, Peritonitis, Thrombocytopenia, Neutropenia, Bloody diarrhea |
ORPHA:391673 |
| Nephrotic Syndrome, Type 12 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:616892 |
| Von Willebrand Disease, Platelet-Type |
|
Intermittent thrombocytopenia |
OMIM:177820 |
| Angiostrongyliasis |
|
Hypereosinophilia, Increased circulating specific IgE antibody, Increased circulating IgA level, ... |
ORPHA:74 |
| Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Macrothrombocytopenia, Impaired platelet aggregation |
OMIM:613112 |
| Brucellosis |
|
Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Glomerulonephritis, Hepatome... |
ORPHA:1304 |
| Listeriosis |
|
Arteritis, Diarrhea, Abscess, Pustule, Jaundice, Endocarditis, Acute kidney injury, Osteomyelitis... |
ORPHA:533 |
| Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Decreased circulating antibody level |
ORPHA:2572 |
| Al Amyloidosis |
|
Hypoalbuminemia, Howell-Jolly bodies, Abnormality of the liver, Renal insufficiency, Increased ci... |
ORPHA:85443 |
| Trichothiodystrophy 3, Photosensitive |
|
Lymphopenia, Increased circulating IgA level, Abdominal adhesions, Neutropenia |
OMIM:616395 |
| Platelet Signal Processing Defect |
|
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... |
OMIM:173590 |
| Microsporidiosis |
|
Lymphadenitis, Urethritis, Abnormality of the spleen, Abnormality of the urinary system physiolog... |
ORPHA:2552 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Reduced natural killer cell count, Hemophagocytosis, Increased circulating ferritin concentration... |
ORPHA:158057 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Recurrent pneumonia, Eczematoid dermatitis, Hypersegmentation of neutrophil nuclei, Lymphopenia, ... |
OMIM:617780 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Reticulocytosis... |
OMIM:274150 |
| Urachal Cyst |
|
Leukocytosis, Abscess, Hematuria, Peritonitis, Urachus fistula, Dysuria, Pyuria |
ORPHA:488 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Thymoma, Aplasia/Hypoplasia of... |
ORPHA:227990 |
| Masp2 Deficiency |
|
Reduced circulating complement concentration, Recurrent pneumonia, Ulcerative colitis, Systemic l... |
OMIM:613791 |
| Aspergillosis |
|
Pneumonia, Keratitis, Hepatitis, Increased circulating IgE level, Osteomyelitis, Infectious encep... |
ORPHA:1163 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Thrombocytopenia, Hyperkalemia, Microangiopathic hemolytic anemia |
OMIM:141000 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Hyperbilirubinemia, Reticulocytosis, Intermittent jaundice |
OMIM:179700 |
| Chylomicron Retention Disease |
|
Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Decreased LDL cholesterol concentratio... |
OMIM:246700 |
| Prolidase Deficiency |
|
Recurrent pneumonia, Eczematoid dermatitis, Systemic lupus erythematosus, Splenomegaly, Increased... |
OMIM:170100 |
| Esophagitis, Eosinophilic, 2 |
|
Eosinophilia |
OMIM:613412 |
| Esophagitis, Eosinophilic, 1 |
|
Eosinophilia |
OMIM:610247 |
| Bone Marrow Failure Syndrome 6 |
|
Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp... |
OMIM:618849 |
| Heme Oxygenase 1 Deficiency |
|
Nephritis, Increased circulating interleukin 6 concentration, Increased circulating ferritin conc... |
OMIM:614034 |
| Autosomal Agammaglobulinemia |
|
Bronchiectasis, Hepatitis, Osteomyelitis, Skin rash, Agammaglobulinemia, Sinusitis, Neutropenia, ... |
ORPHA:33110 |
| Transaldolase Deficiency |
|
Hepatosplenomegaly, Abnormal circulating glutamine concentration, Increased serum bile acid conce... |
ORPHA:101028 |
| Familial Mediterranean Fever |
|
Nephropathy, Nephrocalcinosis, Diarrhea, Erysipelas, Leukocytosis, Splenomegaly, Skin rash, Orchi... |
ORPHA:342 |
| Coenzyme Q10 Deficiency, Primary, 6 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:614650 |
| Complement Factor B Deficiency |
|
Pneumonia, Decreased circulating complement factor B concentration, Peritonitis |
OMIM:615561 |
| Lymphoproliferative Syndrome 2 |
|
Decreased lymphocyte proliferation in response to mitogen, Recurrent pneumonia, Aplastic anemia, ... |
OMIM:615122 |
| Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Hepatic steatosis, Splenomegaly, Hypertriglyceridemia, Hepatomegaly |
OMIM:614480 |
| Beta-Thalassemia |
|
Cholelithiasis, Hepatitis, Microcytic anemia, Abnormal hemoglobin, Splenomegaly, Hepatomegaly, Th... |
ORPHA:848 |
| Immunodeficiency 81 |
|
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Skin rash, Abs... |
OMIM:619374 |
| Forsythe-Wakeling Syndrome |
|
Thrombocytopenia |
OMIM:613606 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Atrophic gastritis, Recurrent pneumonia, Recurrent skin infections, Autoimmune hemolytic anemia, ... |
OMIM:616576 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Hyperlipidemia,... |
OMIM:235400 |
| Immunodeficiency 13 |
|
Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp... |
OMIM:615518 |
| Schimke Immunoosseous Dysplasia |
|
Focal segmental glomerulosclerosis, Lymphopenia, Pancytopenia, Abnormal T cell morphology, Renal ... |
OMIM:242900 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Lymphadenopathy, Neutropenia, B lymphocytopenia, I... |
OMIM:150550 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Recur... |
ORPHA:35078 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Impaired renal uric acid clearance, Renal hypoplasia, Tubular basement membrane disintegration, D... |
OMIM:174000 |
| Eosinophil Peroxidase Deficiency |
|
Eosinophil nuclear hypersegmentation |
OMIM:261500 |
| Dominant Beta-Thalassemia |
|
Hepatic fibrosis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F... |
ORPHA:231226 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level |
ORPHA:2643 |
| Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
| Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Neutropenia, Megaloblastic anemia, Thrombocytopenia |
OMIM:598500 |
| Glut1 Deficiency Syndrome 2 |
|
Splenomegaly, Reticulocytosis, Reduced haptoglobin level, Ataxia, Hemolytic anemia, Choreoathetosis |
OMIM:612126 |
| Primary Sjögren Syndrome |
|
Arteritis, Lymphopenia, Chronic hepatitis, Decreased proportion of CD4-positive helper T cells, I... |
ORPHA:289390 |
| Aicardi-Goutieres Syndrome 9 |
|
Thickened glomerular basement membrane, Hepatosplenomegaly, Hepatic steatosis, Chilblains, Glomer... |
OMIM:619487 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis |
OMIM:617441 |
| Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly, 3-Methylglutaconic aciduria |
OMIM:619813 |
| Tn Polyagglutination Syndrome |
|
Abnormal erythrocyte morphology, Autoimmunity |
OMIM:300622 |
| Erythrocytosis, Familial, 1 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red... |
OMIM:133100 |
| Spherocytosis, Type 5 |
|
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... |
OMIM:612690 |
| Hepatitis Delta |
|
Hepatic failure, Hepatitis, Elevated circulating aspartate aminotransferase concentration, Cirrho... |
ORPHA:402823 |
| Alpha-Thalassemia |
|
Cholelithiasis, Extramedullary hematopoiesis, Hyperplasia of the maxilla, Microcytic anemia, Hemo... |
ORPHA:846 |
| Tempi Syndrome |
|
Polycythemia, Ascites, Increased hematocrit, Abnormality of the kidney, Increased circulating IgG... |
ORPHA:284227 |
| Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Neutropenia, Ataxia |
OMIM:266130 |
| Bleeding Disorder, Platelet-Type, 22 |
|
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... |
OMIM:618462 |
| Pancreatic Lipase Deficiency |
|
Steatorrhea, Hypocholesterolemia |
OMIM:614338 |
| Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Decreased circulating IgA level, Proteinuria, Macronodular cirrhosis, Mucopolysacchariduria, Abno... |
OMIM:215250 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Cholestasis, Hyperbilirubinemia, Splenomegaly, Increased serum bile acid concentration, Proteinur... |
OMIM:620010 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos... |
OMIM:308990 |
| Fanconi Anemia, Complementation Group T |
|
Bone marrow hypocellularity, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia |
OMIM:616435 |
| Adult-Onset Still Disease |
|
Bone marrow hypocellularity, Elevated circulating hepatic transaminase concentration, Hepatitis, ... |
ORPHA:829 |
| Mantle Cell Lymphoma |
|
Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
| Erythrocytosis, Familial, 4 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:611783 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Focal segmental glomerulosclerosis, Hepatic failure, Pancytopenia, Elevated circulating creatine ... |
OMIM:607426 |
| Agammaglobulinemia 9, Autosomal Recessive |
|
Eczematoid dermatitis, Agammaglobulinemia, Seborrheic dermatitis, Absent circulating B cells, Thr... |
OMIM:619693 |
| Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia |
OMIM:206400 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Anemia, Hepatomegaly, Splenomegaly, Thrombocytopenia |
OMIM:615085 |
| Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Neutropenia |
OMIM:616022 |
| Eosinophilic Fasciitis |
|
Eosinophilia, Abnormal eosinophil morphology |
ORPHA:3165 |
| Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1 |
|
Focal segmental glomerulosclerosis, Bone marrow hypocellularity, Enterocolitis, Nephrotic syndrom... |
OMIM:301108 |
| Erythrocytosis, Familial, 5 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617907 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... |
ORPHA:79506 |
| Zika Virus Disease |
|
Myelitis, Skin rash, Maculopapular exanthema, Infectious encephalitis, Arthritis, Thrombocytopeni... |
ORPHA:448237 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Thymoma, Aplasia/Hypoplasia of... |
ORPHA:227982 |
| Reticular Dysgenesis |
|
Aplasia/Hypoplasia of the thymus, Leukopenia, Skin rash, Anemia, Abnormality of neutrophils, Decr... |
ORPHA:33355 |
| Systemic Lupus Erythematosus |
|
Discoid lupus rash, Cheilitis, Antineutrophil antibody positivity, Anti-La/SS-B antibody positivi... |
ORPHA:536 |
| Autoinflammation With Infantile Enterocolitis |
|
Hypoalbuminemia, Reduced natural killer cell count, Increased circulating ferritin concentration,... |
OMIM:616050 |
| Immunodeficiency, Common Variable, 10 |
|
Decreased circulating IgG level, Recurrent pneumonia, Anti-thyroglobulin antibody positivity, Rec... |
OMIM:615577 |
| Pediatric Systemic Lupus Erythematosus |
|
Microangiopathic hemolytic anemia, Systemic lupus erythematosus, Lymphopenia, Dark urine, Hematur... |
ORPHA:93552 |
| Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Hypochromic anemia, Increased circulating IgE level, Leukocytosis, Pancolitis, Decreased T cell a... |
OMIM:618213 |
| Mhc Class Ii Deficiency 1 |
|
Cutaneous anergy, Chronic mucocutaneous candidiasis, Panhypogammaglobulinemia, Recurrent urinary ... |
OMIM:209920 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Rheumatoid arthritis, Systemic lupus erythematosus, Psoriasiform dermatitis, Hematuria, Elevated ... |
ORPHA:49041 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Renal ... |
ORPHA:139402 |
| Zygomycosis |
|
Diarrhea, Pustule, Acute infectious pneumonia, Neutropenia, Endocarditis, Gastrointestinal hemorr... |
ORPHA:73263 |
| Griscelli Syndrome, Type 2 |
|
Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis |
OMIM:607624 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Increased circulating IgG4 level, Autoimmunity, Cytoplasmic antineutrophil antibody positivity, M... |
ORPHA:79078 |
| Beta-Thalassemia Intermedia |
|
Cholelithiasis, Proximal tubulopathy, Extramedullary hematopoiesis, Persistence of hemoglobin F, ... |
ORPHA:231222 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Lymphopenia, Autoimmunity, Interface hepatitis, Autoimmune hemolytic anemia, Leukocytosis, Psoria... |
OMIM:243150 |
| Isolated Agammaglobulinemia |
|
Abnormal lymphocyte morphology, Abnormality of the lymphatic system, Abnormality of the tonsils, ... |
ORPHA:229717 |
| Nephrotic Syndrome, Type 22 |
|
Thickened glomerular basement membrane, Stage 5 chronic kidney disease, Podocyte foot process eff... |
OMIM:619155 |
| Sneddon Syndrome |
|
Decreased circulating total IgM, Antiphospholipid antibody positivity, Lymphopenia |
OMIM:182410 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Hemophagocytosis, Erythroderma, Neutropenia, Hepatomegaly, Reduced natural killer cell activity, ... |
ORPHA:540 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Pneumonia, Cutaneous anergy, Absent natural killer cells, Decreased lymphocyte proliferation in r... |
OMIM:600802 |
| Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Recurrent pneumonia, Vomiting, Secretory diarrhea, Increased circulating IgE level, Pustule |
OMIM:616069 |
| Galloway-Mowat Syndrome 2, X-Linked |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... |
OMIM:301006 |
| Cryoglobulinemic Vasculitis |
|
Viral hepatitis, Abnormality of the liver, Renal insufficiency, Splenomegaly, Hematuria, Proteinu... |
ORPHA:91138 |
| Autoinflammatory Disease, Systemic, With Vasculitis |
|
Elevated gamma-glutamyltransferase level, Cholestasis, Hepatosplenomegaly, Abnormal circulating I... |
OMIM:620376 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Malar flattening, Elevated circulating creatine kinase concentration, Amelogenesis imperfecta, Th... |
OMIM:614727 |
| Nephrotic Syndrome, Type 3 |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangia... |
OMIM:610725 |
| Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature |
|
Retrognathia, Elevated circulating creatinine concentration, Lymphopenia, Leukopenia, Reduced hap... |
OMIM:301110 |
| Primary Peritoneal Carcinoma |
|
Peritonitis, Constipation |
ORPHA:168829 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Erythroid hypoplasia, Hypoplasia of th... |
OMIM:612541 |
| Glycogen Storage Disease Ixa1 |
|
Splenomegaly, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegaly |
OMIM:306000 |
| Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Neutropenia |
ORPHA:90023 |
| Bleeding Disorder, Platelet-Type, 20 |
|
Thrombocytopenia |
OMIM:616913 |
| Von Willebrand Disease, Type 2 |
|
Thrombocytopenia |
OMIM:613554 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Hypoalbuminemia, Increased mean corpuscular volume, Extramedullary hematopoiesis, Ascites, Sidero... |
OMIM:617021 |
| Nephrotic Syndrome, Type 11 |
|
Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, IgA depos... |
OMIM:616730 |
| Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome |
|
Chronic kidney disease, Glomerulonephritis |
ORPHA:2172 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypoalbuminemia, Ataxia, Hemophagocytosis, Increased circulating ferritin concentration, Increase... |
OMIM:267700 |
| Gaucher Disease, Type Iii |
|
Pancytopenia, Splenomegaly, Thrombocytopenia, Ataxia, Hepatomegaly |
OMIM:231000 |
| Panniculitis-Induced Localized Lipodystrophy |
|
Abnormal immunoglobulin level, Inflammatory abnormality of the skin, Antinuclear antibody positivity |
ORPHA:90159 |
| Erythrocytosis, Familial, 3 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass |
OMIM:609820 |
| Immunodeficiency 9 |
|
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Recurrent aphthous... |
OMIM:612782 |
| Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Neutropenia |
ORPHA:70592 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Acute pancreatitis, Recurrent pneumonia, Recurrent tonsillitis, Granuloma, Lymphadenitis, Eczemat... |
OMIM:618935 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Lymphopenia, Hemolytic anemia, Thrombocytopenia |
OMIM:616744 |
| Lead Poisoning |
|
Chronic kidney disease, Abnormality of humoral immunity, Vomiting, Imbalanced hemoglobin synthesi... |
ORPHA:330015 |
| Roifman Syndrome |
|
Hepatomegaly, Eosinophilia, Splenomegaly, Lymphadenopathy |
OMIM:616651 |
| Thyrocerebrorenal Syndrome |
|
Nonprogressive cerebellar ataxia, Thrombocytopenia |
ORPHA:3327 |
| Sea-Blue Histiocytosis |
|
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy |
ORPHA:158029 |
| Idiopathic Acute Eosinophilic Pneumonia |
|
Abnormal eosinophil morphology |
ORPHA:724 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Hyperbili... |
OMIM:616689 |
| Thrombocytopenia 3 |
|
Decreased mean platelet volume, Thrombocytopenia |
OMIM:273900 |
| Immunodeficiency 37 |
|
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Colitis, Decreased circu... |
OMIM:616098 |
| Phosphoglycerate Dehydrogenase Deficiency |
|
Megaloblastic anemia, Thrombocytopenia |
OMIM:601815 |
| Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:619324 |
| Babesiosis |
|
Leukopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly, Jaundice, Hemolytic anemia |
ORPHA:108 |
| Diffuse Neonatal Hemangiomatosis |
|
Ascites, Hepatomegaly, Thrombocytopenia, Anemia, Hypercalcemia |
ORPHA:2123 |
| Transcobalamin Ii Deficiency |
|
Decreased circulating IgG level, Methylmalonic aciduria, Decreased circulating IgA level, Pancyto... |
OMIM:275350 |
| Legionnaires Disease |
|
Bone marrow hypocellularity, Hepatitis, Lymphopenia, Renal insufficiency, Splenomegaly, Infectiou... |
ORPHA:549 |
| Ebola Hemorrhagic Fever |
|
Hepatitis, Lymphopenia, Leukopenia, Increased circulating antibody level, Thrombocytopenia, Macul... |
ORPHA:319218 |
| Storage Pool Platelet Disease |
|
Decreased mean platelet volume, Acute leukemia |
OMIM:185050 |
| Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Decreased circulating antibody level, Leukocytosis, Splenomegaly |
OMIM:618042 |
| Amed Syndrome, Digenic |
|
Bone marrow hypocellularity, Leukopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia |
OMIM:619151 |
| Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Antineutrophil antibody positivity, Hepatitis, Acute hepatic failure, Hepatosplenomegaly, Pancyto... |
ORPHA:228426 |
| Hemochromatosis, Type 3 |
|
Increased circulating iron concentration, Increased circulating ferritin concentration, Lymphopen... |
OMIM:604250 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Cholestatic liver disease, Increased LDL cholesterol concentration, Hepatosplenomegaly, Splenomeg... |
OMIM:616828 |
| Orotic Aciduria |
|
Folate-unresponsive megaloblastic anemia, Anisocytosis, Hypochromia, Poikilocytosis, Pyrimidine-r... |
OMIM:258900 |
| Thrombocytopenia, Paris-Trousseau Type |
|
Micrognathia, Thrombocytopenia |
OMIM:188025 |
| Hepatocellular Carcinoma |
|
Micronodular cirrhosis, Subacute progressive viral hepatitis, Hepatocellular carcinoma |
OMIM:114550 |
| Membranoproliferative Glomerulonephritis, X-Linked |
|
Membranoproliferative glomerulonephritis |
OMIM:305800 |
| Porphyria Cutanea Tarda |
|
Portal inflammation, Systemic lupus erythematosus, Hepatic steatosis, Decreased circulating hepci... |
ORPHA:101330 |
| Amyloidosis, Hereditary Systemic 2 |
|
Nephropathy, Renal amyloidosis, Cholestasis, Splenomegaly, Skin rash, Proteinuria, Hematuria, Hep... |
OMIM:105200 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Anemia, Craniofacial hyperostosis, Splenomegaly |
ORPHA:1802 |
| Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
Lymphopenia, T lymphocytopenia |
OMIM:618309 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Bone marrow hypocellularity, Leukopenia, Refractory anemia, Thrombocytopenia |
OMIM:231095 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Eczematoid dermatitis, Recu... |
ORPHA:83471 |
| Complement Factor I Deficiency |
|
Decreased circulating complement factor B concentration, Recurrent urinary tract infections, Recu... |
OMIM:610984 |
| Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hepatitis, Decreased circulating IgA level, Pancytopenia, Hypersplenism, Portal hypertension, Spl... |
OMIM:613385 |
| Erythrocytosis, Familial, 7 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617981 |
| Erythrocytosis, Familial, 6 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617980 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Lymphopenia, Splenomegaly, Skin rash, Increased circulating antibody level, Myositis, Hepatomegal... |
OMIM:617591 |
| Subcorneal Pustular Dermatosis |
|
Rheumatoid arthritis, Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody ... |
ORPHA:48377 |
| Papa Syndrome |
|
Crohn's disease, Proteinuria, Increased inflammatory response, Increased circulating antibody lev... |
ORPHA:69126 |
| Roifman Syndrome |
|
Eosinophilia, Hepatosplenomegaly, Lymphadenopathy |
ORPHA:353298 |
| Cryptococcosis |
|
Pneumonia, Vomiting, Systemic lupus erythematosus, Osteomyelitis, Autoimmunity, Peritonitis, Pros... |
ORPHA:1546 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Pneumonia, Abnormal T cell count, Panhypogammaglobulinemia, Recurrent otitis media, Pyoderma, Rec... |
OMIM:307200 |
| Dietary Iron Overload Disease |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per... |
ORPHA:139507 |
| Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Increased circulating IgE level |
ORPHA:89843 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Increased circulating IgE level, Eczematoid dermatitis, Thyroiditis |
OMIM:618985 |
| Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy |
ORPHA:66661 |
| Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Increased circulating IgE level |
ORPHA:1858 |
| Inflammatory Pseudotumor Of The Liver |
|
Biliary tract abnormality, Increased hepatitis B virus antibody level, Neoplasm of the liver, Cir... |
ORPHA:90003 |
| Leukocyte Adhesion Deficiency |
|
Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Glome... |
ORPHA:2968 |
| Thrombotic Thrombocytopenic Purpura |
|
Decreased serum creatinine, Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia |
ORPHA:54057 |
| Nephrotic Syndrome, Type 1 |
|
Hypoalbuminemia, Hyperlipidemia, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria,... |
OMIM:256300 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I... |
ORPHA:79303 |
| Primary Sclerosing Cholangitis |
|
Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho... |
ORPHA:171 |
| Proteinuria, Chronic Benign |
|
Proteinuria, Albuminuria, Renal insufficiency |
OMIM:618884 |
| Moyamoya Disease With Early-Onset Achalasia |
|
Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
| Hereditary Spherocytosis |
|
Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration... |
ORPHA:822 |
| Imerslund-Grasbeck Syndrome 2 |
|
Moderate albuminuria, Recurrent urinary tract infections, Renal insufficiency, Proteinuria, Megal... |
OMIM:618882 |
| Non-Involuting Congenital Hemangioma |
|
Hepatic hemangioma, Thrombocytopenia |
ORPHA:141179 |
| Hermansky-Pudlak Syndrome 9 |
|
Leukopenia, Abnormal platelet aggregation, Thrombocytopenia |
OMIM:614171 |
| Congenital Toxoplasmosis |
|
Ascites, Cardiomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Anemia, Jaundice |
ORPHA:858 |
| Aicardi-Goutieres Syndrome 4 |
|
Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly |
OMIM:610333 |
| Galloway-Mowat Syndrome 5 |
|
Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 5 ch... |
OMIM:617731 |
| Congenital Disorder Of Glycosylation, Type Iir |
|
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ... |
OMIM:301045 |
| Avian Influenza |
|
Hypoalbuminemia, Pneumonia, Acute kidney injury, Myelitis, Increased circulating lactate dehydrog... |
ORPHA:454836 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Elevated circula... |
OMIM:613812 |
| Galloway-Mowat Syndrome 6 |
|
Hypoalbuminemia, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria |
OMIM:618347 |
| Relapsing Fever |
|
Increased total bilirubin, Elevated circulating creatinine concentration, Leukopenia, Leukocytosi... |
ORPHA:91547 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Increased circula... |
OMIM:194380 |
| Immunoneurologic Disorder, X-Linked |
|
Functional abnormality of the bladder, Decreased circulating IgG2 level |
OMIM:300076 |
| Idiopathic Aplastic Anemia |
|
Bone marrow hypocellularity, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia |
ORPHA:88 |
| Tyrosinemia, Type I |
|
Acute hepatic failure, Cirrhosis, Glomerular sclerosis, Hepatomegaly, Ascites, Renal insufficienc... |
OMIM:276700 |
| Selective Igm Deficiency |
|
Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Systemic lupus erythematosus, Decreased p... |
ORPHA:331235 |
| Felty Syndrome |
|
Bone marrow hypocellularity, Recurrent pneumonia, Recurrent urinary tract infections, Abnormal ly... |
ORPHA:47612 |
| Lipoprotein Glomerulopathy |
|
Proteinuria, Glomerulopathy, Renal insufficiency, Mesangial hypercellularity |
OMIM:611771 |
| O'Sullivan-Mcleod Syndrome |
|
Eosinophilia |
ORPHA:99965 |
| Alpha-1-Antitrypsin Deficiency |
|
Hepatic failure, Hepatitis, Cholestasis, Jaundice, Cirrhosis, Perinuclear antineutrophil antibody... |
ORPHA:60 |
| Hepatoportal Sclerosis |
|
Hypoalbuminemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Abnormality of t... |
ORPHA:64743 |
| Thrombocythemia 1 |
|
Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce... |
OMIM:187950 |
| Progressive Familial Intrahepatic Cholestasis |
|
Cholestasis, Splenomegaly, Hypocalcemia, Hepatomegaly, Jaundice, Reduced bone mineral density |
ORPHA:172 |
| Myelofibrosis |
|
Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di... |
OMIM:254450 |
| Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency |
|
Eczematoid dermatitis, Increased circulating IgE level, Osteomyelitis, Skin rash, Eosinophilia, C... |
ORPHA:2314 |
| Pauci-Immune Glomerulonephritis |
|
Acute kidney injury, Arteritis, Decreased glomerular filtration rate, Renal insufficiency, Cytopl... |
ORPHA:93126 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Eczematoid dermatitis,... |
OMIM:242700 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Splenomegaly, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Anemia |
OMIM:611490 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Mandibular osteomyelitis, Extramedullary hematopoiesis, Osteomyelitis, Hepatosplenomegaly, Pancyt... |
OMIM:259710 |
| Immune Dysregulation, Autoimmunity, And Autoinflammation |
|
Increased circulating interleukin 8 concentration, Cervical lymphadenopathy, Inguinal lymphadenop... |
OMIM:620514 |
| Splenoportal Vascular Anomalies |
|
Hepatic fibrosis, Ascites, Splenomegaly, Hyperammonemia, Cirrhosis, Anomalous splenoportal venous... |
OMIM:271500 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Increased circulating IgG level, Leukocytosis |
ORPHA:206594 |
| Peritoneal Cystic Mesothelioma |
|
Peritonitis, Constipation |
ORPHA:168816 |
| Primary Intestinal Lymphangiectasia |
|
Hypoalbuminemia, Decreased circulating IgG level, Peritoneal effusion, Hypomagnesemia, Intestinal... |
ORPHA:90362 |
| Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Macrocytic anemia |
OMIM:612527 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... |
OMIM:300946 |
| Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Bone marrow hypocellularity, Abnormality of the hepatic vasculature, Nodular regenerative hyperpl... |
ORPHA:210136 |
| Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Giant platelets, Decreas... |
ORPHA:274 |
| Thrombocytopenia 10 |
|
Decreased mean platelet volume, Thrombocytopenia |
OMIM:620484 |
| Complement Component 4B Deficiency |
|
Decreased circulating complement C4b concentration, Recurrent pneumonia, Recurrent otitis media, ... |
OMIM:614379 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatocellular necrosis, Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocytosis, Aniso... |
OMIM:618278 |
| Aapoaiv Amyloidosis |
|
Chronic kidney disease, Renal amyloidosis, Paraproteinemia, Elevated circulating creatinine conce... |
ORPHA:439232 |
| Wilson Disease |
|
Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Acute ... |
ORPHA:905 |
| Anti-Glomerular Basement Membrane Disease |
|
Autoimmunity, Renal insufficiency, Proteinuria, Hematuria, Glomerulopathy, Arthritis, Anemia |
ORPHA:375 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Ataxia, Decreased platelet glycoprotein Ib, Thrombocytopenia, Neutropenia, Macrothrombocytopenia |
OMIM:603585 |
| Specific Granule Deficiency 2 |
|
Absent neutrophil specific granules, Amelogenesis imperfecta, Thrombocytopenia, Neutropenia, Anemia |
OMIM:617475 |
| Lymphatic Filariasis |
|
Urethral obstruction, Lymphadenitis, Hypereosinophilia, Abnormality of the lymphatic system, Hema... |
ORPHA:2035 |
| Thyrocerebroretinal Syndrome |
|
Thrombocytopenia, Ataxia |
OMIM:274240 |
| Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... |
OMIM:610629 |
| Tafro Syndrome |
|
Ascites, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy, T... |
ORPHA:457077 |
| Cholestasis-Lymphedema Syndrome |
|
Hyperlipidemia, Splenomegaly, Neonatal cholestatic liver disease, Cirrhosis, Hepatomegaly, Jaundi... |
OMIM:214900 |
| Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Hypocholesterolemia, Decreased LDL cholesterol concentration, Decreased HDL cholesterol concentra... |
OMIM:616834 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Decreased circulating total IgG, Pustular rash, Recurrent otitis media, Follicular hyperplasia, E... |
OMIM:619381 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Ataxia, Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Abnormal T ... |
ORPHA:158048 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Allergic rhinitis, Rheumatoid arthritis, Systemic lupus erythematosus, Recurrent otitis media, Ps... |
ORPHA:183675 |
| Glycogen Storage Disease Ib |
|
Focal segmental glomerulosclerosis, Inflammation of the large intestine, Elevated circulating hep... |
OMIM:232220 |
| Cholesteryl Ester Storage Disease |
|
Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegaly, Jaundice |
ORPHA:75234 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo... |
ORPHA:3226 |
| Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
| Takenouchi-Kosaki Syndrome |
|
Ataxia, Dental malocclusion, Thrombocytopenia, Increased mean platelet volume |
OMIM:616737 |
| Rift Valley Fever |
|
Elevated circulating hepatic transaminase concentration, Hepatitis, Skin rash, Infectious encepha... |
ORPHA:319251 |
| Glutamate Formiminotransferase Deficiency |
|
Positive ferric chloride test, Megaloblastic anemia, Hypersegmentation of neutrophil nuclei |
OMIM:229100 |
| Malignant Peritoneal Mesothelioma |
|
Peritonitis, Ileus |
ORPHA:168811 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatosplenomegaly, Splenomegaly, Hypocalcemia, Hepatic steatosis, Hypercholesterolemia, Hypertri... |
OMIM:612526 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... |
ORPHA:730 |
| Atelis Syndrome 1 |
|
Anemia, Leukopenia, Carious teeth, Thrombocytopenia |
OMIM:620184 |
| Gamma-Heavy Chain Disease |
|
Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Hepatomegaly, Lymphade... |
ORPHA:100026 |
| Mirage Syndrome |
|
Hypospadias, Gastroesophageal reflux, Microphallus, Aspiration pneumonia, Recurrent urinary tract... |
OMIM:617053 |
| Refractory Anemia With Excess Blasts |
|
Abnormal mean corpuscular volume, Bone marrow hypocellularity, Leukocytosis, Anemia of inadequate... |
ORPHA:86839 |
| Pyoderma Gangrenosum |
|
Inflammation of the large intestine, Rheumatoid arthritis, Increased circulating antibody level, ... |
ORPHA:48104 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hypoalbuminemia, Chronic kidney disease, Minimal change glomerulonephritis, Focal segmental glome... |
ORPHA:567546 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Decreased HDL cholesterol concentration, Renal insufficiency, Proteinuria, Hypertriglyceridemia, ... |
OMIM:245900 |
| Dehydrated Hereditary Stomatocytosis |
|
Neonatal hyperbilirubinemia, Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Inc... |
ORPHA:3202 |
| Cholesteryl Ester Storage Disease |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Periportal fibrosis, Increased hepatic echogenicity,... |
OMIM:278000 |
| Indolent Systemic Mastocytosis |
|
Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Skin rash, Lymphadenopathy,... |
ORPHA:98848 |
| Glomerulopathy With Fibronectin Deposits 2 |
|
Glomerulomegaly, Glomerular deposits, Glomerular fibronectin deposits, Stage 5 chronic kidney dis... |
OMIM:601894 |
| Rapidly Involuting Congenital Hemangioma |
|
Hepatic hemangioma, Thrombocytopenia |
ORPHA:141184 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice |
OMIM:224100 |
| Ovarian Fibroma |
|
Peritonitis, Mesenteric cyst |
ORPHA:314473 |
| Trichohepatoenteric Syndrome 1 |
|
Hypoalbuminemia, Hypermethioninemia, Increased circulating iron concentration, Hepatic fibrosis, ... |
OMIM:222470 |
| Netherton Syndrome |
|
Aminoaciduria, Eczematoid dermatitis, Increased circulating IgE level, Skin rash, Hydronephrosis,... |
ORPHA:634 |
| Galloway-Mowat Syndrome 7 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, IgA deposition in the glom... |
OMIM:618348 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Inflammatory abnormality of the skin, Functional abnormality of the bladder, Hepatitis, Eczematoi... |
ORPHA:391487 |
| Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
| Acute Generalized Exanthematous Pustulosis |
|
Cholestasis, Leukocytosis, Eosinophilia, Lymphadenopathy, Neutropenia, Neutrophilia |
ORPHA:293173 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Hypoalbuminemia, Decreased circulating IgG level, Bone marrow hypocellularity, Conjunctivitis, He... |
ORPHA:505248 |
| Congenital Enterovirus Infection |
|
Hypoalbuminemia, Fetal ascites, Hepatic failure, Hepatitis, Cholestasis, Leukopenia, Leukocytosis... |
ORPHA:292 |
| Hb Bart'S Hydrops Fetalis |
|
Anemia, Hepatomegaly, Splenomegaly, Abnormal hemoglobin |
ORPHA:163596 |
| Erythema Elevatum Diutinum |
|
Skin rash, Increased circulating antibody level |
ORPHA:90000 |
| Immunodeficiency 17 |
|
Abnormal B cell morphology, Eczematoid dermatitis, Chronic decreased circulating IgG2, Recurrent ... |
OMIM:615607 |
| Aregenerative Anemia |
|
Bone marrow hypocellularity, Pancytopenia, Decreased proportion of CD4-positive helper T cells, A... |
ORPHA:101096 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Normocytic anemia, Nodular regenerative hyperplasia of liver, Abnormality of the hepatic vasculat... |
ORPHA:247691 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hypoalbuminemia, Ataxia, Hemophagocytosis, Increased total bilirubin, Increased circulating ferri... |
OMIM:603553 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Increased mean corpuscular volume, Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Ataxia, ... |
OMIM:613839 |
| Syndromic Diarrhea |
|
Hepatic fibrosis, Lymphopenia, Abnormality of the liver, Splenomegaly, Hypoplasia of the thymus, ... |
ORPHA:84064 |
| Stormorken Syndrome |
|
Howell-Jolly bodies, Hematuria, Thrombocytopenia, Anemia, Asplenia, Hypoplastic spleen |
OMIM:185070 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia, Neutropenia, Ataxia |
OMIM:616949 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Cholecystit... |
OMIM:235700 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Giant platelets, Micrognathia, Left ventricular hypertrophy, Thrombocytopenia, Anemia |
OMIM:611209 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased circulating IgA level, Decreased circulating antibody level, Recurrent skin infections |
OMIM:617744 |
| Hemochromatosis, Type 2B |
|
Hepatic fibrosis, Increased circulating iron concentration, Increased circulating ferritin concen... |
OMIM:613313 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Cholestatic liver disease, Giant cell hepatitis, Nephropathy, Aminoaciduria, Nephrocalcinosis, El... |
OMIM:208085 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent pneumonia, Rectal abscess, Panhypogammaglobulinemia, Recurrent otitis media, Recurrent ... |
OMIM:601495 |
| Immunoglobulin Kappa Light Chain Deficiency |
|
Absent circulating immunoglobulin kappa chain |
OMIM:614102 |
| X-Linked Immunoneurologic Disorder |
|
Functional abnormality of the bladder, Decreased circulating IgG2 level |
ORPHA:2571 |
| Aggressive Systemic Mastocytosis |
|
Ascites, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of C... |
ORPHA:98850 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Elevated circulating propionylcarnitine concentration, Micrognathia, Hypomethioninemia, Hyperhomo... |
OMIM:614857 |
| Sézary Syndrome |
|
Abnormal lymphocyte morphology, Splenomegaly, Abnormal immunoglobulin level, Erythroderma, Lympha... |
ORPHA:3162 |
| Harderoporphyria |
|
Neonatal hyperbilirubinemia, Increased circulating ferritin concentration, Increased urinary porp... |
OMIM:618892 |
| Immunodeficiency 68 |
|
Abnormal natural killer cell count, T lymphocytopenia, Abscess, B lymphocytopenia |
OMIM:612260 |
| Good Syndrome |
|
Thymoma, Aplasia/Hypoplasia of the thymus, Recurrent urinary tract infections, Recurrent skin inf... |
ORPHA:169105 |
| Actinic Prurigo |
|
Pyoderma, Cheilitis, Glomerulonephritis |
OMIM:174770 |
| Senior-Loken Syndrome 8 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Intrahepatic bile duct dilatation, Hepatic cyst... |
OMIM:616307 |
| Fetal Cytomegalovirus Syndrome |
|
Hepatitis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Jaundice, Conjugated hyperbiliru... |
ORPHA:294 |
| Isovaleric Acidemia |
|
Bone marrow hypocellularity, Pancytopenia, Leukopenia, Thrombocytopenia |
OMIM:243500 |
| Neuronal Intestinal Pseudoobstruction |
|
Decreased circulating antibody level |
ORPHA:99811 |
| Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Abnormal paranasal sinus morphology, Lymphopenia, Hypoproteinemia, Intestinal lymphangiectasia |
OMIM:207731 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Decreased mean platelet volume, Cervical lymphadenopathy, Lymphocytosis, Lymphadenopathy, Thrombo... |
OMIM:617718 |
| Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria, Hepatomegaly, Glomerulonephritis, ... |
OMIM:614376 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Increased circulating ferritin concentration, Sideroblastic anemia, Splenomegaly, Hepatomegaly, E... |
OMIM:615234 |
| Gaucher Disease Type 1 |
|
Hepatosplenomegaly, Pancytopenia, Hypersplenism, Increased circulating antibody level, Hematuria,... |
ORPHA:77259 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Hypoalbuminemia, Nephropathy, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuri... |
OMIM:254900 |
| Alport Syndrome |
|
Focal segmental glomerulosclerosis, Nephritis, Thickened glomerular basement membrane, Glomerular... |
ORPHA:63 |
| Braddock-Carey Syndrome 2 |
|
Retrognathia, Thrombocytopenia |
OMIM:619981 |
| Letterer-Siwe Disease |
|
Hepatosplenomegaly, Neutropenia, Thrombocytopenia, Anemia, Jaundice |
OMIM:246400 |
| Immunodeficiency 20 |
|
Reduced natural killer cell activity, Recurrent otitis media, Reduced natural killer cell count, ... |
OMIM:615707 |
| Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Proteinuria, Glomerular sclerosis, Glomerulonephritis, Nephrotic syndrome, Hypospadias |
OMIM:619428 |
| Glomerulopathy With Fibronectin Deposits 1 |
|
Nephropathy, Glomerular fibronectin deposits, Stage 5 chronic kidney disease, Renal insufficiency... |
OMIM:137950 |
| Cryohydrocytosis |
|
Pseudohyperkalemia, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia |
OMIM:185020 |
| Tyrosinemia Type 1 |
|
Generalized aminoaciduria, Acute hepatic failure, Splenomegaly, Hepatomegaly, Hepatocellular carc... |
ORPHA:882 |
| Pseudo-Torch Syndrome 3 |
|
Lymphadenitis, Increased circulating ferritin concentration, Leukocytosis, Cardiomegaly, Congenit... |
OMIM:618886 |
| Galactosemia Iii |
|
Aminoaciduria, Galactosuria, Splenomegaly, Hepatomegaly, Jaundice, Hypergalactosemia |
OMIM:230350 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Increased circulating interleukin 8 concentration, Microcytic anemia, Recurrent otitis media, Inc... |
OMIM:256040 |
| Sickle Cell Anemia |
|
Splenic infarction, Cholelithiasis, Hypochromic anemia, Increased mean corpuscular volume, Pigmen... |
ORPHA:232 |
| Preeclampsia |
|
Chronic kidney disease, Abnormality of the hepatic vasculature, Acute kidney injury, Elevated cir... |
ORPHA:275555 |
| Asplenia, Isolated Congenital |
|
Howell-Jolly bodies, Asplenia, Thrombocytosis |
OMIM:271400 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Nodular regenerative hyperplasia of liver, Ascites, Portal hypertension, Splenomegaly, Thrombocyt... |
OMIM:619463 |
| Hypotrichosis Simplex Of The Scalp |
|
Increased circulating IgE level, Allergic rhinitis, Atopic dermatitis |
ORPHA:90368 |
| Nijmegen Breakage Syndrome-Like Disorder |
|
Decreased circulating antibody level |
OMIM:613078 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Aminoaciduria, Nephrocalcinosis, Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochrom... |
OMIM:616084 |
| Noonan Syndrome 12 |
|
Lymphopenia, Thrombocytopenia |
OMIM:618624 |
| Myasthenia Gravis |
|
Rheumatoid arthritis, Hepatitis, Glycosuria, Systemic lupus erythematosus, Anti-acetylcholine rec... |
ORPHA:589 |
| Chylomicron Retention Disease |
|
Hypocholesterolemia, Acanthocytosis, Hepatic steatosis, Retinopathy, Steatorrhea, Increased hepat... |
ORPHA:71 |
| Riddle Syndrome |
|
Decreased circulating IgG level |
OMIM:611943 |
| Ziegler-Huang Syndrome |
|
Bone marrow hypocellularity, Neutropenia, Macrocytic anemia, Persistence of hemoglobin F |
OMIM:620501 |
| Hyperprolinemia Type 1 |
|
Hyperprolinemia, Nephropathy, Prolinuria, Proteinuria |
ORPHA:419 |
| Diamond-Blackfan Anemia 8 |
|
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia |
OMIM:612563 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Lymphopenia, P... |
OMIM:619767 |
| Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Increased circulating IgE level, Blepharitis, Erythroderma, Pustule |
OMIM:614328 |
| Spherocytosis, Type 4 |
|
Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia |
OMIM:612653 |
| Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Exocrine pancreatic insufficiency, Abnormal immunoglobulin level, Neutropenia, Steatorrhea |
OMIM:618752 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Abnormal lymph node morphology, Abnormality of the lymphatic system, Anemia, Neutr... |
ORPHA:54251 |
| Cholestasis-Lymphedema Syndrome |
|
Hyperlipidemia, Splenomegaly, Portal hypertension, Abnormality of the lymphatic system, Biliary t... |
ORPHA:1414 |
| Chediak-Higashi Syndrome |
|
Ataxia, Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Hepatomegaly, Gait... |
OMIM:214500 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Hypoalbuminemia, Ascites, Hypocholesterolemia, Splenomegaly, Hepatomegaly |
OMIM:608776 |
| Alveolar Echinococcosis |
|
Biliary cirrhosis, Cutaneous abscess, Abnormal mesentery morphology, Portal hypertension, Hepatic... |
ORPHA:284 |
| Cockayne Syndrome Type 1 |
|
Difficulty walking, Hypoplasia of the primary teeth, Delayed eruption of primary teeth, Hepatomeg... |
ORPHA:90321 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Abnormal dental enamel morphology, Episodic hemolytic anemia, Increased blood urea nitrogen, Hype... |
ORPHA:251004 |
| Lassa Fever |
|
Conjunctivitis, Jaundice, Increased circulating IgM level, Oliguria |
ORPHA:99824 |
| X-Linked Sideroblastic Anemia |
|
Anemia, Abnormality of iron homeostasis, Splenomegaly |
ORPHA:75563 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Hypoplastic spleen, Dysphagia |
ORPHA:89844 |
| Imerslund-Gräsbeck Syndrome |
|
Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocytosis, Macro... |
ORPHA:35858 |
| Methylmalonic Aciduria, Cblb Type |
|
Elevated circulating propionylcarnitine concentration, Pancytopenia, Hyperglycinemia, Elevated ci... |
OMIM:251110 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia, Anterior open-bite malocclusion, Leukocytosis, Thrombocytopenia |
ORPHA:83601 |
| Rhabdoid Tumor |
|
Neoplasm of the liver, Lymphadenopathy, Thrombocytopenia, Anemia, Hypercalcemia |
ORPHA:69077 |
| Urban-Rogers-Meyer Syndrome |
|
Increased circulating IgE level, Abnormality of the ureter, Hypoplasia of penis |
ORPHA:3409 |
| T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Splenomegaly, Hyper... |
OMIM:618398 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Reticulocytosis, S... |
OMIM:266200 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Thrombocytopenia |
ORPHA:67048 |
| Igg4-Related Ophthalmic Disease |
|
Keratitis, Increased circulating IgE level, Increased circulating IgG4 level, Orchitis, Antinucle... |
ORPHA:449563 |
| Spherocytosis, Type 2 |
|
Hyperbilirubinemia, Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol... |
OMIM:616649 |
| Squalene Synthase Deficiency |
|
Bilateral cryptorchidism, Elbow flexion contracture, Hypocholesterolemia, Knee flexion contractur... |
OMIM:618156 |
| Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Acanthocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Poikilocytosis |
OMIM:300367 |
| Hypocomplementemic Urticarial Vasculitis |
|
Ascites, Reduced circulating complement concentration, Autoimmunity, Renal insufficiency, Splenom... |
ORPHA:36412 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Pneumonia, Reduction of neutrophil motility, Periodontitis, Recurrent otitis media, Neutrophilia |
OMIM:266265 |
| Multicentric Reticulohistiocytosis |
|
Histiocytosis |
ORPHA:139436 |
| Immunodeficiency 47 |
|
Hepatic bridging fibrosis, Decreased circulating total IgG, Chronic decreased circulating total I... |
OMIM:300972 |
| Renal Failure, Progressive, With Hypertension |
|
Nephritis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal i... |
OMIM:161900 |
| Igg4-Related Thyroid Disease |
|
Anti-thyroglobulin antibody positivity, Increased circulating IgG4 level, Autoimmunity, Sclerosin... |
ORPHA:64744 |
| Mevalonic Aciduria |
|
Fluctuating splenomegaly, Morbilliform rash, Hepatosplenomegaly, Leukocytosis, Skin rash, Elevate... |
OMIM:610377 |
| Nephronophthisis 19 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Nephronophthisis, Hyperechogenic kidn... |
OMIM:616217 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Recur... |
ORPHA:508533 |
| Galloway-Mowat Syndrome 4 |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Congenital nephrotic syndrome... |
OMIM:617730 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Abnormal B cell morphology, Recurrent otitis media, Agammaglobulinemia, Decreased circulating ant... |
OMIM:616910 |
| Unclassified Myelodysplastic Syndrome |
|
Acute myeloid leukemia, Bone marrow hypocellularity, Autoimmunity, Leukocytosis |
ORPHA:98827 |
| Neonatal Lupus Erythematosus |
|
Aplastic anemia, Pancytopenia, Abnormality of the liver, Splenomegaly, Hepatomegaly, Neutropenia,... |
ORPHA:398124 |
| Tufted Angioma |
|
Anemia, Thrombocytopenia |
ORPHA:1063 |
| Common Variable Immunodeficiency |
|
Pneumonia, Bronchiectasis, Lymphopenia, Abnormality of the liver, Decreased circulating antibody ... |
ORPHA:1572 |
| Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Anemia, Leukocytosis, Ulcerative colitis |
OMIM:619398 |
| Systemic Sclerosis |
|
Chronic kidney disease, Acute kidney injury, Anti-centromere antibody positivity, Osteomyelitis, ... |
ORPHA:90291 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Thrombocytopenia, Thiamine-responsive megaloblastic anemia, Ataxia |
OMIM:249270 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatic fibrosis, Portal fibrosis, Increased total iron binding capacity, Hyperbilirubinemia, Por... |
OMIM:616278 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 9 |
|
Leukemia, Leukopenia |
OMIM:620400 |
| Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease |
OMIM:614199 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Nephropathy, Aminoaciduria, Nephrocalcinosis, Giant cell hepatitis, Cholestatic liver disease, Gl... |
OMIM:613404 |
| Hyperlipoproteinemia, Type Id |
|
Increased circulating chylomicron concentration, Decreased HDL cholesterol concentration, Splenom... |
OMIM:615947 |
| Congenital Erythropoietic Porphyria |
|
Erythrodontia, Leukopenia, Erythroid hyperplasia, Abnormal circulating porphyrin concentration, R... |
ORPHA:79277 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Decreased proportion of memory B cells, Hepatosplenomegaly, Pancytopenia, Abnormal circulating in... |
ORPHA:79124 |
| C1Q Deficiency 2 |
|
Discoid lupus rash, Recurrent otitis media, Malar rash, Chilblains, Anti-Sm antibody positivity, ... |
OMIM:620321 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Hyperlipoproteinemia, Type I |
|
Lactescent serum, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipid... |
OMIM:238600 |
| Spherocytosis, Type 1 |
|
Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol... |
OMIM:182900 |
| Ciliary Dyskinesia, Primary, 29 |
|
Decreased circulating antibody level |
OMIM:615872 |
| Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Pneumonia, Atopic dermatitis, Hepatitis, Increased circulating ferritin conce... |
OMIM:615846 |
| Beta-Thalassemia Major |
|
Hepatic fibrosis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F... |
ORPHA:231214 |
| Propionic Acidemia |
|
Pancytopenia, Hyperglycinemia, Hyperammonemia, Hepatomegaly, Pancreatitis, Neutropenia, Thrombocy... |
OMIM:606054 |
| Stuve-Wiedemann Syndrome 2 |
|
Thrombocytopenia |
OMIM:619751 |
| Immunodeficiency 56 |
|
Recurrent pneumonia, Hepatic failure, Panhypogammaglobulinemia, Recurrent otitis media, Recurrent... |
OMIM:615207 |
| Interstitial Lung Disease 2 |
|
Cirrhosis, Increased circulating antibody level |
OMIM:178500 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Leukopenia, Hyperglycinemia, Hyperammonemia, Pancreatitis, Neutropenia, Thrombocytopenia, Hepatom... |
OMIM:251000 |
| Encephalopathy Due To Prosaposin Deficiency |
|
Hepatomegaly, Splenomegaly |
ORPHA:139406 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Anemia, Lymphopenia, Portal hypertension, Thrombocytopenia |
OMIM:620365 |
| Platelet Disorder, Undefined |
|
Thrombocytopenia, Impaired platelet aggregation |
OMIM:173420 |
| Cog4-Cdg |
|
Hepatosplenomegaly, Cirrhosis, Hypercholesterolemia, Thrombocytopenia, Ataxia |
ORPHA:263501 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Extramedullary hematopoiesis, Ascites, Pancytopenia, Hepatosplenomegaly, Hyperbilirubinemia, Hypo... |
OMIM:259720 |
| Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Hepatitis, Macrocytic anemia, Hyperuricemia, Hyponatremia, Eosinophilia, Hyper... |
ORPHA:199299 |
| Megaloblastic Anemia, Folate-Responsive |
|
Hypersegmentation of neutrophil nuclei, Increased circulating ferritin concentration, Folate-resp... |
OMIM:601775 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Broad-based gait, Retrognathia, Persistence of hemoglobin F, Micrognathia, Limb ataxia, Truncal a... |
OMIM:617101 |
| Ovarian Fibrothecoma |
|
Peritonitis |
ORPHA:314478 |
| Essential Thrombocythemia |
|
Acute leukemia, Abnormality of thrombocytes, Leukocytosis, Splenomegaly, Abnormal platelet morpho... |
ORPHA:3318 |
| Diamond-Blackfan Anemia 5 |
|
Erythroid hypoplasia, Leukopenia, Reticulocytopenia, Macrocytic anemia |
OMIM:612528 |
| Yellow Fever |
|
Acute kidney injury, Pancreatic hyperplasia, Anuria, Elevated circulating creatinine concentratio... |
ORPHA:99829 |
| Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphopenia, Decreased circulating antibody level |
ORPHA:1116 |
| Galactose Epimerase Deficiency |
|
Aminoaciduria, Hepatomegaly, Jaundice, Splenomegaly |
ORPHA:79238 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Optic atrophy, Pigmentary retinopathy, Hypocholesterolemia, Abnormal erythrocyte morphology, Acan... |
ORPHA:96180 |
| Waldenström Macroglobulinemia |
|
Normocytic anemia, Monoclonal immunoglobulin M proteinemia, Renal insufficiency, Splenomegaly, He... |
ORPHA:33226 |
| Congenital Disorder Of Glycosylation, Type Iih |
|
Elevated serum transaminases during infections, Elevated circulating aspartate aminotransferase c... |
OMIM:611182 |
| Gray Platelet Syndrome |
|
Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Splenomegaly, ... |
OMIM:139090 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level, Splenomega... |
OMIM:612301 |
| Alport Syndrome 3A, Autosomal Dominant |
|
Thickened glomerular basement membrane, Nephritis, Nephrocalcinosis, Glomerular basement membrane... |
OMIM:104200 |
| Frasier Syndrome |
|
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease |
OMIM:136680 |
| Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Lymphopenia, Eosinophilia, Hepatic cysts |
OMIM:617425 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Cholestasis, Portal hypertension, Splenic cys... |
OMIM:610199 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Anemia, Sideroblastic anemia, Decreased mean corpuscular volume, Hypochromia |
OMIM:205950 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Hypouricemia, Ataxia, Lymphopenia, Autoimmune hemolytic anemia, Abnormal T cell morphology, Decre... |
ORPHA:760 |
| Hereditary Orotic Aciduria |
|
Aminoaciduria, Impaired T cell function, Oroticaciduria, Abnormality of the ureter, Splenomegaly,... |
ORPHA:30 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Megaloblastic anemia, Thrombocytopenia |
ORPHA:49827 |
| Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Hepatomegaly, Fetal ascites, Splenomegaly |
OMIM:619462 |
| Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Elevated circulating gamma-aminobutyric acid concent... |
OMIM:619658 |
| Nocardiosis |
|
Pneumonia, Vomiting, Lymphadenitis, Brain abscess, Cutaneous abscess, Keratitis, Osteomyelitis, I... |
ORPHA:31204 |
| Spondyloenchondrodysplasia |
|
Chronic kidney disease, Pneumonia, Granuloma, Hepatitis, Systemic lupus erythematosus, Anti-dsDNA... |
ORPHA:1855 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... |
OMIM:608203 |
| Tick-Borne Encephalitis |
|
Myelitis, Elevated circulating hepatic transaminase concentration, Leukopenia, Abnormal circulati... |
ORPHA:297 |
| Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulopathy, Anemia, Hypercalcemia |
ORPHA:2668 |
| Iga Nephropathy, Susceptibility To, 2 |
|
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria |
OMIM:613944 |
| Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, No... |
OMIM:613470 |
| Congenital Rubella Syndrome |
|
Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Jaundice |
ORPHA:290 |
| Interstitial Nephritis, Karyomegalic |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:614817 |
| Griscelli Syndrome Type 2 |
|
Hemophagocytosis, Pancytopenia, Hyperlipidemia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepat... |
ORPHA:79477 |
| Congenital Syphilis |
|
Pneumonia, Keratitis, Extramedullary hematopoiesis, Hepatosplenomegaly, Prolonged neonatal jaundi... |
ORPHA:499009 |
| Glycogen Storage Disease Ixb |
|
Hepatomegaly, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content |
OMIM:261750 |
| Gaucher Disease |
|
Pancytopenia, Increased circulating antibody level, Hematuria, Cirrhosis, Polyclonal elevation of... |
ORPHA:355 |
| Majeed Syndrome |
|
Acne, Inflammatory abnormality of the skin, Osteomyelitis, Leukocytosis, Splenomegaly, Synovitis,... |
ORPHA:77297 |
| Loeffler Endocarditis |
|
Eosinophilia, Left ventricular hypertrophy |
ORPHA:75566 |
| Cold Agglutinin Disease |
|
Abnormal urinary color, Autoimmunity, Splenomegaly, Lymphadenopathy, Hepatomegaly, Hemolytic anemia |
ORPHA:56425 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Splenomegaly, Amelogenesis imperfecta, Lymphadenopathy, Thrombocytopenia, Hypocalcification of de... |
ORPHA:169090 |
| Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Bone marrow hypocellularity, Leukopenia, Decreased circulating antibody level, Colitis |
OMIM:615190 |
| Hemorrhagic Fever-Renal Syndrome |
|
Chronic kidney disease, Pneumonia, Acute kidney injury, Oliguria, Hyperphosphatemia, Anuria, Elev... |
ORPHA:340 |
| Moyamoya Disease 6 With Or Without Achalasia |
|
Thrombocytopenia |
OMIM:615750 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Decreased circulating iron concentration, Pancytopenia, Leukopenia, Erythroid hyperplasia, Reticu... |
ORPHA:447 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Increased RBC distribution width, Absence of alpha granules, Thrombocytopenia, Macrothrombocytope... |
OMIM:187900 |
| Familial Cold Autoinflammatory Syndrome 2 |
|
Recurrent aphthous stomatitis, Leukocytosis, Splenomegaly, Skin rash, Lymphadenopathy, Erythema n... |
OMIM:611762 |
| Graft Versus Host Disease |
|
Pneumonia, Inflammatory abnormality of the skin, Elevated circulating hepatic transaminase concen... |
ORPHA:39812 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Unilateral renal agenesis, Reduced natural killer cell count, Decreased lymphocyte proliferation ... |
ORPHA:221139 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Unilateral renal agenesis, Inflammation of the large intestine, Proximal tubulopathy, Decreased s... |
OMIM:614576 |
| Imerslund-Grasbeck Syndrome 1 |
|
Proteinuria, Microscopic hematuria, Megaloblastic anemia |
OMIM:261100 |
| Epilepsy-Telangiectasia Syndrome |
|
Decreased circulating IgA level, Decreased circulating antibody level |
ORPHA:1951 |
| Neuraminidase Deficiency |
|
Urinary excretion of sialylated oligosaccharides, Ascites, Increased urinary O-linked sialopeptid... |
OMIM:256550 |
| Erythrocytosis, Familial, 2 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass |
OMIM:263400 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Bone marrow hypocellularity, Carious teeth, Increased mean corpuscular volume, Aplastic anemia, L... |
OMIM:127550 |
| Fetal Gaucher Disease |
|
Abnormality of the spleen, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly |
ORPHA:85212 |
| Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology |
ORPHA:1164 |
| Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Neutropenia |
OMIM:610738 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia |
OMIM:614520 |
| Aicardi-Goutieres Syndrome 5 |
|
Thrombocytopenia |
OMIM:612952 |
| Isolated Sedoheptulokinase Deficiency |
|
Cholestatic liver disease, Hepatitis, Cholestasis, Renal insufficiency, Portal hypertension, Abno... |
ORPHA:440713 |
| Idiopathic Hypereosinophilic Syndrome |
|
Portal fibrosis, Cervical lymphadenopathy, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Sple... |
ORPHA:3260 |
| Methylmalonic Aciduria, Cbla Type |
|
Pancytopenia, Hyperglycinemia, Hyperammonemia, Hepatomegaly, Neutropenia, Thrombocytopenia, Anemi... |
OMIM:251100 |
| Liver Disease, Severe Congenital |
|
Diarrhea, Portal inflammation, Recurrent otitis media, Hepatic steatosis, Abnormal hepatic echoge... |
OMIM:619991 |
| Neonatal Severe Primary Hyperparathyroidism |
|
Hepatomegaly, Splenomegaly, Aminoaciduria |
ORPHA:417 |
| Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Recurrent pneumonia, Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy, Decreased circulatin... |
OMIM:619750 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Hepatic fibrosis, Re... |
OMIM:620005 |
| Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Hyperammonemia |
ORPHA:664 |
| Disabling Pansclerotic Morphea Of Childhood |
|
Elevated circulating C-reactive protein concentration, Lymphopenia, Neutropenia |
OMIM:620443 |
| Crimean-Congo Hemorrhagic Fever |
|
Morbilliform rash, Pancytopenia, Hematuria, Erythema nodosum, Neutrophilia, Hepatomegaly, Jaundic... |
ORPHA:99827 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8 |
|
Nodular regenerative hyperplasia of liver, Increased mean corpuscular volume, Portal hypertension... |
OMIM:620367 |
| Tangier Disease |
|
Hypocholesterolemia, Hepatosplenomegaly, Chronic noninfectious lymphadenopathy, Left ventricular ... |
ORPHA:31150 |
| Melioidosis |
|
Pneumonia, Brain abscess, Foot osteomyelitis, Hepatitis, Cutaneous abscess, Parotitis, Abnormalit... |
ORPHA:31202 |
| Coproporphyria, Hereditary |
|
Elevated urinary coproporphyrin level, Elevated urinary delta-aminolevulinic acid, Increased urin... |
OMIM:121300 |
| Rasmussen Subacute Encephalitis |
|
Anti-dsDNA antibody positivity, Autoimmunity, Antinuclear antibody positivity, Decreased circulat... |
ORPHA:1929 |
| Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities |
|
Inability to walk, Thrombocytopenia |
OMIM:616577 |
| Ataxia-Telangiectasia |
|
Decreased circulating IgG level, Defective B cell differentiation, Lymphopenia, Decreased circula... |
OMIM:208900 |
| Holocarboxylase Synthetase Deficiency |
|
Hyperammonemia, Thrombocytopenia, Ataxia |
ORPHA:79242 |
| Gracile Bone Dysplasia |
|
Micropenis, Asplenia, Hypoplastic spleen |
OMIM:602361 |
| Dengue Fever |
|
Ascites, Leukopenia, Thrombocytopenia, Hepatomegaly, Hypoproteinemia |
ORPHA:99828 |
| Secondary Intestinal Lymphangiectasia |
|
Hypoalbuminemia, Decreased circulating IgG1 level, Reduced circulating transferrin concentration,... |
ORPHA:90363 |
| Immunodeficiency 40 |
|
Focal active colitis, Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Inters... |
OMIM:616433 |
| Abetalipoproteinemia |
|
Hypoalbuminemia, Osteopenia, Hepatic fibrosis, Hypotriglyceridemia, Hypopigmentation of the fundu... |
ORPHA:14 |
| Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Reticulocyto... |
OMIM:185000 |
| Glycogen Storage Disease Ic |
|
Focal segmental glomerulosclerosis, Inflammation of the large intestine, Cyclic neutropenia, Decr... |
OMIM:232240 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Anemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
ORPHA:230 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Carious teeth, Pancytopenia, Splenomegaly, Hypocalcemia, Hepatomegaly, Thrombocytopenia, Calvaria... |
OMIM:259700 |
| Alpha-1-Antitrypsin Deficiency |
|
Cirrhosis, Reduced circulating alpha-1-antitrypsin concentration, Splenomegaly, Hepatocellular ca... |
OMIM:613490 |
| Iga Nephropathy, Susceptibility To, 3 |
|
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Mesangial hypercellularity, Pro... |
OMIM:616818 |
| Lcat Deficiency |
|
Acute kidney injury, Decreased HDL cholesterol concentration, Decreased glomerular filtration rat... |
ORPHA:650 |
| Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hepatomegaly, Hypocholesterolemia, Hydrocele testis |
OMIM:618810 |
| Stormorken-Sjaastad-Langslet Syndrome |
|
Anemia, Asplenia |
ORPHA:3204 |
| Combined Oxidative Phosphorylation Deficiency 24 |
|
Focal segmental glomerulosclerosis, Elevated circulating creatine kinase concentration |
OMIM:616239 |
| Hemochromatosis, Type 2A |
|
Increased circulating iron concentration, Increased circulating ferritin concentration, Splenomeg... |
OMIM:602390 |
| Hepatitis, Fulminant Viral, Susceptibility To |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hashimoto thyroiditis, ... |
OMIM:618549 |
| Nail-Patella-Like Renal Disease |
|
Proteinuria, Glomerulopathy, Renal insufficiency, Microscopic hematuria |
ORPHA:2613 |
| Frasier Syndrome |
|
Focal segmental glomerulosclerosis, Renal insufficiency, Nephroblastoma, Proteinuria, Glomerulopa... |
ORPHA:347 |
| Acute Promyelocytic Leukemia |
|
Pancytopenia, Leukopenia, Leukocytosis, Lymphadenopathy, Neutropenia, Thrombocytopenia, Anemia |
ORPHA:520 |
| Spondylometaphyseal Dysplasia, Axial |
|
Optic atrophy, Splenomegaly, Retinal degeneration, Cone/cone-rod dystrophy, Rod-cone dystrophy |
OMIM:602271 |
| Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Osteopenia, Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate production, Hep... |
OMIM:612714 |
| Gaucher Disease, Type I |
|
Pancytopenia, Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia |
OMIM:230800 |
| Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Retrognathia, Persistence of hemoglobin F, Micrognathia, Macro... |
OMIM:612561 |
| Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Nephropathy, Proteinuria |
ORPHA:2820 |
| Osteopetrosis, Autosomal Recessive 3 |
|
Anemia, Hepatosplenomegaly, Distal renal tubular acidosis, Extramedullary hematopoiesis |
OMIM:259730 |
| Alg12-Cdg |
|
Hypoalbuminemia, Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Ab... |
ORPHA:79324 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia, Athetosis |
ORPHA:621 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Osteopenia, Cholelithiasis, Rickets, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episo... |
OMIM:211600 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Hepatomegaly, Increased bone mineral density, Abnormal cortical bone morphology, Splenomegaly |
ORPHA:2204 |
| Immunodeficiency 42 |
|
Recurrent aphthous stomatitis, Splenomegaly, Hypoplasia of the thymus, Recurrent cutaneous fungal... |
OMIM:616622 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Anemia, Hepatosplenomegaly |
OMIM:273680 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Dental malocclusion, Abnormality of the lymphatic system, Thrombocytopenia, Increased mean platel... |
ORPHA:487796 |
| Dent Disease |
|
Renal hypophosphatemia, Renal phosphate wasting, Chronic kidney disease, Focal segmental glomerul... |
ORPHA:1652 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Hypoalbuminemia, Cholestasis, Elevated circulating creatinine concentration, Ascites, Hepatomegal... |
OMIM:608104 |
| Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Ascites, Abnormality of the ureter, Splenomegaly, Renal hypoplasia/aplasia, Anemia, Hypoplasia of... |
ORPHA:1046 |
| Glycogen Storage Disease Ia |
|
Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Decr... |
OMIM:232200 |
| Hematuria, Benign Familial, 2 |
|
Proteinuria, Abnormal glomerular basement membrane morphology, Microscopic hematuria |
OMIM:620320 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:86893 |
| Igg4-Related Pachymeningitis |
|
Nephritis, Lymphadenitis, Parotitis, Increased circulating IgG4 level, Reduced circulating comple... |
ORPHA:449427 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Bone marrow hypocellularity, Delayed eruption of teeth, Lymphopenia, Leukopenia, Reticulocytopeni... |
ORPHA:508542 |
| Beemer-Ertbruggen Syndrome |
|
Micrognathia, Thrombocytopenia |
ORPHA:1237 |
| Macrocephaly/Autism Syndrome |
|
Recurrent otitis media, Lymphopenia, Penile freckling, Splenomegaly, Hepatomegaly, Decreased circ... |
OMIM:605309 |
| Hoyeraal-Hreidarsson Syndrome |
|
Bone marrow hypocellularity, Abnormal leukocyte morphology, Thrombocytopenia, Ataxia, Anemia |
ORPHA:3322 |
| Pearson Syndrome |
|
Pancytopenia, Hepatic steatosis, Neutropenia, Hepatomegaly, Dysphagia, Hypoplastic spleen, Abnorm... |
ORPHA:699 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Bone marrow hypocellularity, Pancytopenia, Cirrhosis, Thrombocytopenia |
OMIM:613987 |
| Catastrophic Antiphospholipid Syndrome |
|
Anticardiolipin IgG antibody positivity, Microangiopathic hemolytic anemia, Systemic lupus erythe... |
ORPHA:464343 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Increased HbA2 hemoglobin, Broad-based gait, Decreased mean corpuscular volume |
OMIM:616943 |
| Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
| Stt3B-Cdg |
|
Thrombocytopenia |
ORPHA:370924 |
| Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia |
|
Transient hypogammaglobulinemia of infancy |
OMIM:251240 |
| Wilson Disease |
|
Hypouricemia, Acute hepatic failure, Hyperbilirubinemia, Hepatic steatosis, Cirrhosis, Elevated c... |
OMIM:277900 |
| Fish-Eye Disease |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly, Decreased HDL cholesterol concentration |
ORPHA:79292 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Recurrent pneumonia, Recurrent otitis media, Abnormal lymphocyte morphology, Psoriasiform dermati... |
ORPHA:293978 |
| Congenital Disorder Of Glycosylation, Type It |
|
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepatitis, Rec... |
OMIM:614921 |
| Hypermanganesemia With Dystonia 1 |
|
Polycythemia, Increased total iron binding capacity, Cirrhosis, Hypermanganesemia, Steppage gait,... |
OMIM:613280 |
| Quebec Platelet Disorder |
|
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation |
OMIM:601709 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Anemia, Nephropathy, Nephrotic syndrome, Proteinuria |
ORPHA:1192 |
| Caffey Disease |
|
Increased circulating antibody level |
ORPHA:1310 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Hyperparathyroidism, Cortical sclerosis, Pathologic fracture, Elevated circulating creatinine con... |
OMIM:620366 |
| Potocki-Lupski Syndrome |
|
Hypocholesterolemia |
OMIM:610883 |
| Ciliary Dyskinesia, Primary, 53 |
|
Recurrent pneumonia, Abdominal situs inversus, Polysplenia, Chronic sinusitis, Hypoplastic spleen |
OMIM:620642 |
| Hermansky-Pudlak Syndrome 2 |
|
Reduced natural killer cell count, Carious teeth, Enlarged platelet dense granules, Hepatosplenom... |
OMIM:608233 |
| Portal Hypertension, Noncirrhotic, 1 |
|
Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:617068 |
| Classic Mycosis Fungoides |
|
Eczematoid dermatitis, Abnormal lymphocyte morphology, Splenomegaly, Skin rash, Lymphadenopathy, ... |
ORPHA:2584 |
| Xq28 (MECP2) duplication |
|
Decreased circulating IgA level, Functional abnormality of the bladder |
DECIPHER:45 |
| Chronic Intestinal Pseudoobstruction |
|
Abnormal platelet morphology |
ORPHA:2978 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Thrombocytopenia |
OMIM:615597 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Recurrent otitis media, Asplenia |
OMIM:618948 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Recurrent otitis media, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Lupus anticoagulant, Eryth... |
OMIM:615688 |
| Pneumocystosis |
|
Interstitial pneumonitis, Increased circulating antibody level, Acute infectious pneumonia, Abnor... |
ORPHA:723 |
| Orthostatic Hypotension 1 |
|
Hypomagnesemia, Joint hypermobility, Increased blood urea nitrogen, Elevated circulating dihydrox... |
OMIM:223360 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Renal cortical hyperechogenicity, Anuria, Megacystis, Pyelonephritis, Peritonitis, Fetal megacystis |
OMIM:619351 |
| Transaldolase Deficiency |
|
Hepatic fibrosis, Micronodular cirrhosis, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Hepatom... |
OMIM:606003 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Nephropathy, Abnormal urinary electrolyte concentration, Abnormal lymph node morphology, Elevated... |
ORPHA:85450 |
| Classic Hodgkin Lymphoma |
|
Bone marrow hypocellularity, Skin rash, Splenomegaly, Lymphadenopathy, Hepatomegaly |
ORPHA:391 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Cystathioninemia, Elevated circulating propionylcarnitine concentration, Pancytopenia, Hepatomega... |
OMIM:277380 |
| Castleman Disease |
|
Increased circulating interleukin 6 concentration, Ureteral obstruction, Renal insufficiency, Fol... |
ORPHA:160 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Eosinophilia, Gait disturbance, Sinusitis |
ORPHA:183 |
| Fibronectin Glomerulopathy |
|
Hypoalbuminemia, Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, Glom... |
ORPHA:84090 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Neonatal cholestatic liver disease, Splenomegaly, Biliary tract abnormality, Jaundice, Cirrhosis,... |
ORPHA:79301 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Decreased liver function, Acute hepatitis, Hyperornithinemia, Hyperammonemia, Hepatomegaly, Homoc... |
OMIM:238970 |
| Ataxia-Telangiectasia |
|
Lymphopenia, Decreased circulating antibody level, Aplasia/Hypoplasia of the thymus |
ORPHA:100 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Retrognathia, Microcytic anemia, Micrognathia, Malar flattening |
ORPHA:98791 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypoalbuminemia, Increased circulating IgE level, Psoriasiform dermatitis, Eosinophilic infiltrat... |
OMIM:615508 |
| Hyperlipidemia, Familial Combined, 3 |
|
Increased LDL cholesterol concentration, Xanthelasma, Hyperlipidemia, Increased VLDL cholesterol ... |
OMIM:144250 |
| Infantile Sialic Acid Storage Disease |
|
Osteopenia, Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes, Conjugated... |
OMIM:269920 |
| Follicular Lymphoma |
|
Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology, Lymphadenopathy |
ORPHA:545 |
| Lambert Syndrome |
|
Cholestasis, Intrahepatic biliary atresia, Jaundice, Decreased circulating antibody level, Hyposp... |
ORPHA:1296 |
| Diamond-Blackfan Anemia 12 |
|
Reticulocytopenia, Normochromic anemia, Macrocytic anemia, Elevated red cell adenosine deaminase ... |
OMIM:615550 |
| Systemic-Onset Juvenile Idiopathic Arthritis |
|
Autoimmunity, Splenomegaly, Skin rash, Hepatomegaly, Lymphadenopathy, Arthritis, Elevated circula... |
ORPHA:85414 |
| Sclerosing Cholangitis, Neonatal |
|
Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Hepatic failure, Portal fibr... |
OMIM:617394 |
| Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Peritonitis, Arteritis, Abnormality of the lower urinary tract |
ORPHA:679 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Aminoaciduria, Prolonged neonatal jaundice, Hydronephrosis, Albuminuria, Hepatomegaly, Elevated c... |
OMIM:214100 |
| Iga Nephropathy, Susceptibility To, 1 |
|
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria |
OMIM:161950 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1 |
|
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Cirrhosis, Myeloid leukemia, Anemia, ... |
OMIM:614742 |
| Nephrotic Syndrome, Type 21 |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome... |
OMIM:618594 |
| Overlap Myositis |
|
Rheumatoid arthritis, Abnormal circulating lipid concentration, Systemic lupus erythematosus, Leu... |
ORPHA:206572 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Hypoalbuminemia, Decreased circulating IgG level, Hepatic fibrosis, Proximal tubulopathy, Elevate... |
OMIM:212065 |
| Kasabach-Merritt Phenomenon |
|
Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Abnormal lymphatic vessel morphol... |
ORPHA:2330 |
| Galloway-Mowat Syndrome 3 |
|
Hypoalbuminemia, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangial sclerosis, Glomer... |
OMIM:617729 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Chronic kidney disease, Renal insufficiency, Abnormal renal glomerulus morphology, Membranoprolif... |
OMIM:137940 |
| Vexas Syndrome |
|
Inflammatory abnormality of the skin, Arteritis, Neutrophilic infiltration of the skin, Macrocyti... |
OMIM:301054 |
| Icf Syndrome |
|
Anemia, Lymphopenia, Abnormality of neutrophils, Micrognathia |
ORPHA:2268 |
| Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Spherocytosis, Splenomegaly |
ORPHA:66518 |
| Immune Thrombocytopenia |
|
Hematuria, Thrombocytopenia, Anti-platelet antigen antibody positivity |
ORPHA:3002 |
| Japanese Encephalitis |
|
Infectious encephalitis, Hyponatremia, Increased circulating antibody level, Neutrophilia, Increa... |
ORPHA:79139 |
| Goodpasture Syndrome |
|
Glomerular crescent formation, Erythrocyte cylindruria, Anti-glomerular basement membrane-antibod... |
OMIM:233450 |
| Osteopetrosis, Autosomal Dominant 3 |
|
Anemia, Hepatomegaly, Splenomegaly |
OMIM:618107 |
| Pfapa Syndrome |
|
Splenomegaly, Infectious encephalitis, Lymphadenopathy, Arthritis, Hepatomegaly |
ORPHA:42642 |
| Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome |
|
Thrombocytopenia, Hypochromic microcytic anemia, Increased circulating ferritin concentration |
ORPHA:3240 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Moderate albuminuria, Increased hepatic echogenicity, Microcytic anemia, Recurrent otitis media, ... |
OMIM:619525 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Ataxia, Leukopenia, Micrognathia, Hepatic steatosis, Trismus, Thrombocytopenia, Neutropenia, Chor... |
OMIM:616271 |
| Bile Acid Synthesis Defect, Congenital, 4 |
|
Intrahepatic cholestasis, Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic tra... |
OMIM:214950 |
| Free Sialic Acid Storage Disease |
|
Ascites, Splenomegaly, Proteinuria, Hepatomegaly, Nephrotic syndrome |
ORPHA:834 |
| Shwachman-Diamond Syndrome |
|
Carious teeth, Aplastic anemia, Pancytopenia, Increased serum bile acid concentration, Impaired n... |
ORPHA:811 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Bone marrow hypocellularity, Hepatic fibrosis, Aplastic anemia, Pancytopenia, Leukopenia, Thrombo... |
OMIM:613989 |
| Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Recurrent pneumonia, Diarrhea, Gastroesophageal reflux, Cutaneous abscess, Eczematoid dermatitis,... |
OMIM:147060 |
| Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Hepatitis |
ORPHA:363523 |
| Mogs-Cdg |
|
Decreased circulating IgG level, Decreased circulating IgA level, Hepatosplenomegaly, Cardiomegal... |
ORPHA:79330 |
| Tangier Disease |
|
Splenomegaly, Hypertriglyceridemia, Elevated circulating apolipoprotein A-II concentration, Left ... |
OMIM:205400 |
| Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Renal hypoplasia, Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocal... |
OMIM:611555 |
| Wolman Disease |
|
Hepatomegaly, Splenomegaly |
OMIM:620151 |
| Gaucher Disease Type 3 |
|
Pancytopenia, Splenomegaly, Increased circulating antibody level, Hematuria, Proteinuria, Anemia,... |
ORPHA:77261 |
| Chédiak-Higashi Syndrome |
|
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Ataxia, Jaundice, Hypoproteinemi... |
ORPHA:167 |
| Cohen Syndrome |
|
Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxilla, Leukopenia, Microg... |
OMIM:216550 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Ataxia, Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Leukopenia, Macrocytic anemia... |
OMIM:613990 |
| Autoimmune Polyendocrine Syndrome, Type Ii |
|
Thymoma, Hepatitis, Chronic mucocutaneous candidiasis, Exocrine pancreatic insufficiency, Keratoc... |
OMIM:269200 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Increased circulating antibody level, Scleritis, Elevated circulating C-reactive protein concentr... |
ORPHA:91500 |
| Shwachman-Diamond Syndrome 1 |
|
Persistence of hemoglobin F, Exocrine pancreatic insufficiency, Pancytopenia, Hepatomegaly, Acute... |
OMIM:260400 |
| Galloway-Mowat Syndrome 9 |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis |
OMIM:619603 |
| Burkitt Lymphoma |
|
Abnormal lymph node morphology, Abnormality of the spleen, Abnormality of the liver, Decreased pr... |
ORPHA:543 |
| Glycogen Storage Disease Vii |
|
Cholelithiasis, Increased total bilirubin, Reduced erythrocyte 2,3-diphosphoglycerate concentrati... |
OMIM:232800 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Abnormal urinary color, Systemic lupus erythematosus, Autoimmunity, Splenomegaly, Autoimmune hemo... |
ORPHA:90033 |
| Bile Acid Synthesis Defect, Congenital, 2 |
|
Intrahepatic cholestasis, Hyperbilirubinemia, Splenomegaly, Hepatomegaly, Steatorrhea, Jaundice |
OMIM:235555 |
| Wolman Disease |
|
Ascites, Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells |
ORPHA:75233 |
| Wolfram Syndrome 1 |
|
Sideroblastic anemia, Megaloblastic anemia, Thrombocytopenia, Ataxia |
OMIM:222300 |
| Bone Marrow Failure Syndrome 3 |
|
Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Persistence of h... |
OMIM:617052 |
| Sengers Syndrome |
|
Thrombocytopenia |
OMIM:212350 |
| Alopecia Antibody Deficiency |
|
Decreased circulating antibody level |
ORPHA:1006 |
| Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Abnormality of the urinary system, Abnormality of the urethra, Ureterocele, Aplasia of the bladde... |
ORPHA:158684 |
| Hereditary Elliptocytosis |
|
Neonatal hyperbilirubinemia, Stomatocytosis, Cholelithiasis, Hyperbilirubinemia, Abnormal erythro... |
ORPHA:288 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Proteinuria, G... |
ORPHA:276621 |
| Acute Radiation Syndrome |
|
Lymphopenia, Granulocytopenia, Thrombocytopenia |
ORPHA:454831 |
| Glycogen Storage Disease Ixc |
|
Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hypertriglyceridemia, Hepatomegaly, ... |
OMIM:613027 |
| X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Decreased circulating antibody level |
ORPHA:85317 |
| Smith-Kingsmore Syndrome |
|
Decreased circulating IgA level, Thrombocytopenia |
OMIM:616638 |
| Dyskeratosis Congenita, Digenic |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:620040 |
| Elliptocytosis 1 |
|
Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis |
OMIM:611804 |
| Mucopolysaccharidosis Type 7 |
|
Ascites, Splenomegaly, Mucopolysacchariduria, Hepatitis |
ORPHA:584 |
| Farber Lipogranulomatosis |
|
Osteolysis involving bones of the feet, Cherry red spot of the macula, Splenomegaly, Lipogranulom... |
OMIM:228000 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Abnormal urinary color, Splenomegaly, Increased total bilirubin |
ORPHA:90037 |
| Bone Marrow Failure Syndrome 5 |
|
Erythroid hypoplasia, Pure red cell aplasia, Anemia, Decreased circulating antibody level |
OMIM:618165 |
| Von Willebrand Disease, Type 3 |
|
Thrombocytopenia, Impaired platelet aggregation |
OMIM:277480 |
| Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Impaired collagen-induced platelet aggregation, Acute monocytic leukemia, Impaired arachidonic ac... |
OMIM:601399 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatic fibrosis, Portal fibrosis, Hyperlipidemia, Increased hepatic glycogen content, Proteinuri... |
ORPHA:369 |
| Mccune-Albright Syndrome |
|
Renal phosphate wasting, Bone marrow hypocellularity, Hepatitis, Cholestasis, Pancytopenia, Hyper... |
ORPHA:562 |
| Bloom Syndrome |
|
Pneumonia, Decreased circulating IgG level, Cheilitis, Recurrent tonsillitis, Recurrent urinary t... |
ORPHA:125 |
| Sialidosis Type 2 |
|
Abnormal macular morphology, Ascites, Splenomegaly, Hepatomegaly, Osteoporosis, Flexion contracture |
ORPHA:87876 |
| Phosphoglycerate Kinase 1 Deficiency |
|
Exercise-induced myoglobinuria, Erythroid hyperplasia, Renal insufficiency, Reticulocytosis, Hemo... |
OMIM:300653 |
| Adult-Onset Nemaline Myopathy |
|
Paraproteinemia |
ORPHA:171442 |
| Microphthalmia, Syndromic 9 |
|
Renal hypoplasia, Multilobulated spleen, Horseshoe kidney, Hydronephrosis, Hypoplastic spleen, Pe... |
OMIM:601186 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Dysmetria, Athetosis, Thrombocytopenia, Ataxia |
OMIM:617710 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Periportal fibrosis, Micronodular cirrh... |
OMIM:251880 |
| Lysinuric Protein Intolerance |
|
Hemophagocytosis, Increased circulating ferritin concentration, Leukopenia, Hyperammonemia, Splen... |
OMIM:222700 |
| Blue Rubber Bleb Nevus |
|
Abnormality of the liver, Iron deficiency anemia, Thrombocytopenia |
OMIM:112200 |
| Recon Progeroid Syndrome |
|
Anemia, Delayed eruption of permanent teeth, Thrombocytopenia, Prominence of the premaxilla |
OMIM:620370 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Hepatosplenomegaly, Micrognathia, Leukocytosis, Malar flattening, Eosinophilia, Thrombocytopenia,... |
OMIM:274000 |
| Thrombocytopenia 6 |
|
Thrombocytopenia |
OMIM:616937 |
| Acquired Purpura Fulminans |
|
Elevated circulating C-reactive protein concentration, Thrombocytopenia |
ORPHA:49566 |
| Acute Panmyelosis With Myelofibrosis |
|
Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye... |
ORPHA:86843 |
| Myotonic Dystrophy 2 |
|
Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:602668 |
| Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Pancytopenia, Splenomegaly |
OMIM:614979 |
| Neuroblastoma |
|
Increased circulating ferritin concentration, Antalgic gait, Lymphadenopathy, Thrombocytopenia, A... |
ORPHA:635 |
| Immunodeficiency 54 |
|
Hepatomegaly, Reduced natural killer cell count, Splenomegaly, Lymphadenopathy |
OMIM:609981 |
| Pseudo-Torch Syndrome 1 |
|
Microretrognathia, Splenomegaly, Thrombocytopenia, Hepatomegaly, Jaundice |
OMIM:251290 |
| Sickle Cell Disease |
|
Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg... |
OMIM:603903 |
| Immunodeficiency 31C |
|
Eczematoid dermatitis, Decreased lymphocyte proliferation in response to anti-CD3, Chronic mucocu... |
OMIM:614162 |
| Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Intrahepatic cholestasis, Portal fibrosis, Portal inflammation, Ascites, Splenomegaly, Increased ... |
OMIM:602347 |
| Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Anemia, Hepatomegaly, Splenomegaly |
OMIM:620296 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Hyperbilirubinemia, Renal insufficiency, Reticulocytosis, Myoglobinuria, Hemolytic anemia, Decrea... |
ORPHA:713 |
| Renal Hypoplasia, Bilateral |
|
Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Decreas... |
ORPHA:97362 |
| Celiac Disease, Susceptibility To, 1 |
|
Elevated circulating hepatic transaminase concentration, Eczematoid dermatitis, Decreased circula... |
OMIM:212750 |
| Alg8-Cdg |
|
Ascites, Hyponatremia, Thrombocytopenia, Ataxia, Anemia |
ORPHA:79325 |
| Caroli Syndrome |
|
Intrahepatic cholestasis, Hypersplenism, Hyperbilirubinemia, Leukopenia, Leukocytosis, Congenital... |
ORPHA:480520 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Lymphopenia, Recurrent sinusitis, Autoimmune hemolytic anemia, Neutropenia |
OMIM:614868 |
| Sepsis In Premature Infants |
|
Oliguria, Increased circulating interleukin 6 concentration, Leukocytosis, Splenomegaly, Reversib... |
ORPHA:90051 |
| Immunodeficiency 32A |
|
Lymphadenitis, Granuloma, Lymphadenopathy |
OMIM:614893 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Decreased circulati... |
OMIM:613327 |
| Gaucher Disease, Type Ii |
|
Splenomegaly, Hepatomegaly, Trismus, Thrombocytopenia, Anemia |
OMIM:230900 |
| 3-Methylglutaconic Aciduria, Type Viia |
|
Anemia, Neutropenia, Anisopoikilocytosis |
OMIM:619835 |
| Glycogen Storage Disease Xii |
|
Normocytic anemia, Cholelithiasis, Hyperbilirubinemia, Cholecystitis, Reduced haptoglobin level, ... |
OMIM:611881 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp... |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp... |
OMIM:233710 |
| Congenital Disorder Of Glycosylation, Type Ie |
|
Ankle flexion contracture, Optic atrophy, Abnormal macular morphology, Splenomegaly, Knee flexion... |
OMIM:608799 |
| Nijmegen Breakage Syndrome |
|
Recurrent pneumonia, Recurrent urinary tract infections, Recurrent otitis media, Autoimmune hemol... |
OMIM:251260 |
| Coenzyme Q10 Deficiency, Primary, 3 |
|
Hypoalbuminemia, Proteinuria, Nephrotic syndrome |
OMIM:614652 |
| Kawasaki Disease |
|
Hypoalbuminemia, Hepatitis, Sterile pyuria, Conjunctivitis, Cervical lymphadenopathy, Leukocytosi... |
ORPHA:2331 |
| Congenital Bile Acid Synthesis Defect Type 4 |
|
Cholestatic liver disease, Giant cell hepatitis, Cholelithiasis, Elevated circulating hepatic tra... |
ORPHA:79095 |
| Incontinentia Pigmenti |
|
Eosinophilia, Leukocytosis, Delayed eruption of teeth |
OMIM:308300 |
| Incontinentia Pigmenti |
|
Abnormal dental enamel morphology, Eosinophilia, Gait disturbance, Delayed eruption of teeth |
ORPHA:464 |
| Laterality Defects, Autosomal Dominant |
|
Asplenia |
OMIM:601086 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Aplastic anemia, Congenital thrombocytopenia, Amegakaryocytic thrombocytopenia |
OMIM:605432 |
| Wiskott-Aldrich Syndrome |
|
Nephropathy, Abnormal eosinophil morphology, Acute leukemia, Inflammation of the large intestine,... |
ORPHA:906 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Atrophic gastritis, Nephrocalcinosis, Cholelithiasis, Chronic mucocutaneous candidiasis, Keratoco... |
OMIM:240300 |
| Gaucher Disease, Perinatal Lethal |
|
Retrognathia, Ascites, Hepatosplenomegaly, Micrognathia, Akinesia, Splenomegaly, Cardiomegaly, He... |
OMIM:608013 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:607143 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Decreased proportion of memory B cells, Reduced natural killer cell count, Inflammation of the la... |
OMIM:301074 |
| Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Thrombocytopenia, ... |
OMIM:617941 |
| Pearson Marrow-Pancreas Syndrome |
|
Exocrine pancreatic insufficiency, Sideroblastic anemia, Pancytopenia, Hyperbilirubinemia, Hepato... |
OMIM:557000 |
| Mucoepithelial Dysplasia, Hereditary |
|
Eosinophilia |
OMIM:158310 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Intestinal lymphangiectasia, Ascites, Hepatomegaly, Iron deficiency anemia, Thrombocytosis, Anemi... |
OMIM:226300 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Elevated gamma-glutamyltransferase level, Increased urinary glycerol, Cholestasis, Increased LDL ... |
ORPHA:247598 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Chronic kidney disease, Renal amyloidosis, Abnormal circulating selenium concentration, IgA depos... |
ORPHA:79408 |
| Pediatric-Onset Graves Disease |
|
Keratitis, Autoimmunity, Episcleritis, Splenomegaly, Anti-thyroid peroxidase antibody positivity,... |
ORPHA:525731 |
| Wolcott-Rallison Syndrome |
|
Hypoalbuminemia, Ascites, Exocrine pancreatic insufficiency, Abnormality of the liver, Hyperbilir... |
ORPHA:1667 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of primary teeth, Increased size of nasopharyngeal adenoids, Persistence of hemoglobin F |
OMIM:619769 |
| Von Willebrand Disease |
|
Microcytic anemia, Abnormal platelet function, Abnormality of thrombocytes, Thrombocytopenia |
ORPHA:903 |
| Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia |
OMIM:600901 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp... |
OMIM:233690 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Proteinuria, G... |
ORPHA:29072 |
| Simpson-Golabi-Behmel Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Polysplenia, Increased circulating IgE level, Splenome... |
ORPHA:373 |
| Alport Syndrome 1, X-Linked |
|
Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Stag... |
OMIM:301050 |
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly, Conjugate... |
OMIM:601847 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Increased hepatic glycogen content, Copper accumulation in liver, Thrombocytopenia, Elevated hepa... |
OMIM:614946 |
| Paroxysmal Cold Hemoglobinuria |
|
Hemoglobinuria, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Abnormal urinary c... |
ORPHA:90035 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Elevated circulating creatinine concentration, Glomerular sclerosis, Increased blood urea nitroge... |
OMIM:223900 |
| Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
Abnormal natural killer cell morphology, Recurrent aphthous stomatitis, B lymphocytopenia, Microp... |
OMIM:615966 |
| Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Bone marrow hypocellularity, Reduced natural killer cell count, Inflammation of the large intesti... |
OMIM:620133 |
| Hermansky-Pudlak Syndrome 5 |
|
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Thrombocytopenia |
OMIM:614074 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ... |
ORPHA:99901 |
| Gitelman Syndrome |
|
Focal segmental glomerulosclerosis, Hypermagnesemia, Enuresis, Hypomagnesemia, Gout, Hypocalcemia... |
ORPHA:358 |
| Acute Monoblastic/Monocytic Leukemia |
|
Hypochromic anemia, Oliguria, Acute monocytic leukemia, Cervical lymphadenopathy, Leukocytosis, L... |
ORPHA:514 |
| Cinca Syndrome |
|
Abnormality of thrombocytes, Leukocytosis, Splenomegaly, Hepatomegaly, Anemia, Inflammatory abnor... |
ORPHA:1451 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Thrombocytopenia, Cholelithiasis, Normochromic anemia, Elevated circulating creatine kinase conce... |
OMIM:618775 |
| Coach Syndrome 3 |
|
Portal fibrosis, Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Renal int... |
OMIM:619113 |
| Liver Failure, Infantile, Transient |
|
Decreased circulating IgG level, Dicarboxylic aciduria, 3-hydroxydicarboxylic aciduria, Microvesi... |
OMIM:613070 |
| Barth Syndrome |
|
Elevated monolysocardiolipin/cardiolipin ratio, Cyclic neutropenia, Gait disturbance, Hypochromic... |
OMIM:302060 |
| Hemochromatosis, Type 1 |
|
Increased circulating iron concentration, Increased circulating ferritin concentration, Ascites, ... |
OMIM:235200 |
| Caroli Disease |
|
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Elevated gamma-glu... |
ORPHA:53035 |
| 46,Xy Sex Reversal 4 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Distal symphalangism |
OMIM:154230 |
| Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Increased circulating antibody level |
OMIM:114065 |
| Braddock-Carey Syndrome 1 |
|
Enamel hypoplasia, Thrombocytopenia |
OMIM:619980 |
| Muckle-Wells Syndrome |
|
Nephropathy, Renal amyloidosis, Conjunctivitis, Recurrent aphthous stomatitis, Episcleritis, Sple... |
ORPHA:575 |
| Immunodeficiency 59 And Hypoglycemia |
|
Arteritis, Acne inversa, Herpes simplex encephalitis, Recurrent aphthous stomatitis, Recurrent sk... |
OMIM:233600 |
| Kaposiform Lymphangiomatosis |
|
Hepatosplenomegaly, Splenomegaly, Lymphangioma, Abnormality of the lymphatic system, Abnormal lym... |
ORPHA:464329 |
| Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Ketonuria, Microcytic anemia, 3-Methylglutaconic aciduria, Elevated circulating creatine kinase c... |
OMIM:251900 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Cholestasis, Cirrhosis, Hepatomegaly, Polycystic kidney dysplasia, Renal dysplasia, Bile duct pro... |
OMIM:208540 |
| Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Splenomegaly, Autoimmune hemolytic anemia, Myositis, Lymphadenopathy, Hepatomegaly, Panniculitis |
OMIM:619183 |
| Galloway-Mowat Syndrome 1 |
|
Hypoalbuminemia, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria, Diffuse me... |
OMIM:251300 |
| Hypoglossia With Situs Inversus |
|
Asplenia, Polysplenia |
OMIM:612776 |
| Psoriasis 14, Pustular |
|
Elevated circulating C-reactive protein concentration, Cholangitis, Leukocytosis, Neutrophilia |
OMIM:614204 |
| Bloom Syndrome |
|
Decreased circulating IgG level, Leukemia, Decreased circulating IgA level, Malar rash, Azoosperm... |
OMIM:210900 |
| Uremic Pruritus |
|
Renal hypophosphatemia, Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
| Herpes Simplex Virus Encephalitis |
|
Elevated circulating C-reactive protein concentration, Hyponatremia, Leukocytosis, Neutrophilia |
ORPHA:1930 |
| Lig4 Syndrome |
|
Pancytopenia, Acute lymphoblastic leukemia, Chronic sinusitis, Thrombocytopenia |
OMIM:606593 |
| Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia |
OMIM:227650 |
| Trichohepatoenteric Syndrome 2 |
|
Hepatomegaly, Colitis, Cirrhosis, Chronic hepatitis |
OMIM:614602 |
| Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Stomatocytosis, Inability to walk, Splenomegaly, Conjugated hyperbilirubinemia, Ataxia, Hepatomeg... |
OMIM:608885 |
| Fgfr2-Related Bent Bone Dysplasia |
|
Hepatosplenomegaly, Extramedullary hematopoiesis |
ORPHA:313855 |
| Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Diarrhea, Vomiting, Abnormality of the spleen, Abnormality of the li... |
ORPHA:79456 |
| Sweet Syndrome |
|
Abnormal circulating interleukin concentration, Inflammation of the large intestine, Increased ci... |
ORPHA:3243 |
| Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Bone marrow hypocellularity, Hepatic fibrosis, Carious teeth, Aplastic anemia, Pancytopenia, Thro... |
OMIM:224230 |
| Alagille Syndrome 1 |
|
Focal segmental glomerulosclerosis, Duplicated collecting system, Renal hypoplasia, Hepatic failu... |
OMIM:118450 |
| Cryptogenic Organizing Pneumonia |
|
Elevated circulating C-reactive protein concentration, Leukocytosis, Neutrophilia |
ORPHA:1302 |
| Kikuchi-Fujimoto Disease |
|
Ataxia, Abnormal lymph node morphology, Cervical lymphadenopathy, Leukopenia, Splenomegaly, Hepat... |
ORPHA:50918 |
| Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Acute kidney injury, Myoglobinuria, Hyperkalemia, Hemolytic anemia, Elevated creatine kinase afte... |
ORPHA:57 |
| Congenital Disorder Of Glycosylation, Type Iib |
|
Elevated circulating aspartate aminotransferase concentration, Decreased circulating IgA level, R... |
OMIM:606056 |
| Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta... |
OMIM:619849 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Hyperechogenic kidne... |
OMIM:263200 |
| Meier-Gorlin Syndrome 7 |
|
Vesicoureteral reflux, Urethral stricture, Meconium peritonitis, Micropenis, Hypospadias |
OMIM:617063 |
| Joubert Syndrome 33 |
|
Splenomegaly, Cone/cone-rod dystrophy |
OMIM:617767 |
| Porphyria, Congenital Erythropoietic |
|
Cholelithiasis, Elevated circulating uroporphyrin concentration, Erythrodontia, Splenomegaly, Hep... |
OMIM:263700 |
| Riddle Syndrome |
|
Pneumonia, Decreased circulating IgG level, Enuresis nocturna, Recurrent pneumonia, Decreased cir... |
ORPHA:420741 |
| Ivic Syndrome |
|
Leukocytosis, Thrombocytopenia |
ORPHA:2307 |
| Mesangial sclerosis, diffuse renal, with ocular abnormalities |
|
Nephrotic syndrome, Diffuse mesangial sclerosis, Renal insufficiency |
OMIM:249660 |
| Cednik Syndrome |
|
Proteinuria, Nephrotic syndrome |
ORPHA:66631 |
| Gaisböck Syndrome |
|
Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Increased he... |
ORPHA:90041 |
| Poems Syndrome |
|
Visceromegaly, Polycythemia, Ascites, Splenomegaly, Increased circulating antibody level, Lymphad... |
ORPHA:2905 |
| Snakebite Envenomation |
|
Hyponatremia, Thrombocytopenia |
ORPHA:449285 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Periostitis, Osteomyelitis, Splenomegaly, Hepatomegaly, Neutrophilia, Elevated circul... |
OMIM:612852 |
| Dent Disease 2 |
|
Aminoaciduria, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weig... |
OMIM:300555 |
| Diamond-Blackfan Anemia |
|
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... |
ORPHA:124 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Nephropathy, Homocystinuria, Acute kidney injury, Cystathioninemia, Methylmalonic aciduria, Cysta... |
OMIM:277400 |
| Nephrotic Syndrome, Type 8 |
|
Hypoalbuminemia, Chronic kidney disease, Thin glomerular basement membrane, Stage 5 chronic kidne... |
OMIM:615244 |
| Denys-Drash Syndrome |
|
Nephropathy, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephroblastoma, ... |
OMIM:194080 |
| Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To |
|
Hemoglobinuria, Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis |
OMIM:266120 |
| Hereditary Renal Hypouricemia |
|
Hypouricemia, Increased blood urea nitrogen |
ORPHA:94088 |
| Whim Syndrome |
|
Pneumonia, Recurrent pneumonia, Lymphadenitis, Parotitis, Abnormal neutrophil morphology, Lymphop... |
ORPHA:51636 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Peritoneal abscess, Hepatitis, Psoriasiform dermatitis, Autoimmunity, Autoimmune hemolytic anemia... |
ORPHA:436252 |
| Mixed Connective Tissue Disease |
|
Nephropathy, Mediastinal lymphadenopathy, Leukopenia, Autoimmunity, Splenomegaly, Skin rash, Myos... |
ORPHA:809 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Abnormal blood inorganic cation concentration, Polycythemia, Micronodular cirrhosis, Increased to... |
ORPHA:309854 |
| Aicardi-Goutieres Syndrome 1 |
|
Inability to walk, Splenomegaly, Hepatomegaly, Thrombocytopenia, Prolonged neonatal jaundice |
OMIM:225750 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Acute hepatic steatosis, Hepatitis, Cholestasis, Hepatic steatosis, Cholesterol gallstones, Macro... |
ORPHA:209902 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Prot... |
OMIM:619127 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Splenomegaly, Macrocytic anemia, Hyperprolinemia, Hyperalaninemia, Increased serum pyruvate |
OMIM:619046 |
| Melas |
|
Nephropathy, Focal segmental glomerulosclerosis, Proximal tubulopathy, Proteinuria, Recurrent pan... |
ORPHA:550 |
| Sarcoidosis |
|
Abnormal lymph node morphology, Hypercalcemia, Leukopenia, Portal hypertension, Increased T cell ... |
ORPHA:797 |
| Aa Amyloidosis |
|
Chronic kidney disease, Nephropathy, Acute kidney injury, Renal amyloidosis, Cholestasis, Protein... |
ORPHA:85445 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Cholelithiasis, Severe B lymphocytopenia, Pancreatic hypoplasia, Eczematoid dermatitis, Superfici... |
ORPHA:83617 |
| Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
| Holocarboxylase Synthetase Deficiency |
|
Hyperammonemia, Thrombocytopenia |
OMIM:253270 |
| Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
| Leukodystrophy, Hypomyelinating, 24 |
|
B lymphocytopenia |
OMIM:619851 |
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Thrombocytopenia, Microvesicular hepatic steatosis |
OMIM:611126 |
| Hurler-Scheie Syndrome |
|
Hepatomegaly, Rhinitis, Abnormality of the tonsils, Splenomegaly |
ORPHA:93476 |
| Niemann-Pick Disease, Type A |
|
Sea-blue histiocytosis, Microcytic anemia, Ascites, Splenomegaly, Hepatomegaly, Lymphadenopathy, ... |
OMIM:257200 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Hypernatriuria, Decreased glomerular filtration rate, Reduced renal corticomedu... |
OMIM:602522 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Lymphopenia, Anemia, Abnormality of the pancreas |
ORPHA:935 |
| Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Anticardiolipin IgG antibody positivity, Cholestasis, Lymphopenia, Decreased ... |
OMIM:619573 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Aminoaciduria, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Proteinuria, Anemia, Ren... |
ORPHA:436271 |
| Leptospirosis |
|
Acute kidney injury, Uveitis, Hepatitis, Skin rash, Elevated serum transaminases during infection... |
ORPHA:509 |
| Encephalitis Lethargica |
|
Urinary incontinence, Autoimmunity, Increased circulating antibody level |
ORPHA:83600 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Retrognathia, Leukopenia, Elevated circulating creatine kinase concentration, Thrombocytopenia, H... |
OMIM:301056 |
| Acquired Generalized Lipodystrophy |
|
Abnormality of complement system, Abnormal circulating lipid concentration, Autoimmunity, Hepatic... |
ORPHA:79086 |
| Lujo Hemorrhagic Fever |
|
Oliguria, Increased circulating lactate dehydrogenase concentration, Elevated circulating hepatic... |
ORPHA:319213 |
| Chronic Mucocutaneous Candidiasis |
|
Hepatitis, Recurrent urinary tract infections, Skin rash, Hematuria, Cheilitis |
ORPHA:1334 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Inability to walk, High nonceruloplasmin-bound serum copper, Retrognathia, Thrombocytopenia |
ORPHA:457351 |
| Lichen Planopilaris |
|
Hepatitis |
ORPHA:525 |
| Cryoglobulinemia, Familial Mixed |
|
Chronic kidney disease, Elevated circulating creatinine concentration, Cryoglobulinemia, Proteinu... |
OMIM:123550 |
| Fanconi Anemia, Complementation Group C |
|
Bone marrow hypocellularity, Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopen... |
OMIM:227645 |
| Marburg Hemorrhagic Fever |
|
Neutrophilia in presence of infection, Lymphopenia, Increased circulating antibody level, Jaundic... |
ORPHA:99826 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatic fibrosis, Inflammation of the large intestine, Elevated circulating hepatic transaminase ... |
OMIM:615895 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Hepatic cysts, Hepatomeg... |
OMIM:615415 |
| Cocaine Intoxication |
|
Acute kidney injury, Increased circulating lactate dehydrogenase concentration, Elevated circulat... |
ORPHA:90068 |
| Alstrom Syndrome |
|
Nephritis, Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Chronic ... |
OMIM:203800 |
| Congenital Isolated Acth Deficiency |
|
Prolonged neonatal jaundice, Hepatitis |
ORPHA:199296 |
| Relapsing Polychondritis |
|
Uveitis, Keratitis, Hepatitis, Recurrent aphthous stomatitis, Chondritis, Renal insufficiency, Ep... |
ORPHA:728 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Abnormal penis morphology, Pneumonia, Acute kidney injury, Inflammatory abnormality of the skin, ... |
ORPHA:95455 |
| Pseudo-Torch Syndrome 2 |
|
Hepatomegaly, Ascites, Thrombocytopenia |
OMIM:617397 |
| Maternal Uniparental Disomy Of Chromosome 6 |
|
Thrombocytopenia |
ORPHA:96181 |
| Nail-Patella Syndrome |
|
Renal insufficiency, Hematuria, Proteinuria, Glomerulonephritis, Nephrotic syndrome |
OMIM:161200 |
| Adams-Oliver Syndrome 6 |
|
Hepatic fibrosis, Renal hypoplasia, Portal hypertension, Splenomegaly |
OMIM:616589 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Proximal tubulopathy, Organic aciduria, Hypomagnesemia, Stage 3 chronic kidney disease, Medullary... |
OMIM:619743 |
| Granulomatous Disease, Chronic, X-Linked |
|
Discoid lupus rash, Recurrent pneumonia, Granuloma, Lymphadenitis, Eczematoid dermatitis, Ascites... |
OMIM:306400 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Moderate albuminuria, Ketonuria, Glycosuria, Pancreatic hypoplasia, Renal tubular dysfunction, Ab... |
ORPHA:99885 |
| American Trypanosomiasis |
|
Skin rash, Splenomegaly, Infectious encephalitis, Lymphadenopathy, Myocarditis, Hepatomegaly, Aut... |
ORPHA:3386 |
| Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Decreased circulating IgA level, Hypospadias |
ORPHA:457485 |
| Vici Syndrome |
|
Decreased circulating IgG level, Renal tubular acidosis, Decreased circulating IgG2 level, Ureter... |
ORPHA:1493 |
| Fanconi Anemia, Complementation Group F |
|
Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia |
OMIM:603467 |
| Spastic Paraplegia 16, X-Linked |
|
Shuffling gait, Hypoplasia of the maxilla |
OMIM:300266 |
| Diamond-Blackfan Anemia 21 |
|
Erythroid hypoplasia, Anemia, Micrognathia, Thrombocytopenia |
OMIM:620072 |
| Renal Hypoplasia |
|
Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec... |
ORPHA:93101 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatic fibrosis, Portal fibrosis, Cholestasis, Hepatic steatosis, Splenomegaly, Elevated circula... |
ORPHA:264580 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatic fibrosis, Splenomegaly, Polycystic ovaries, Elevated circulating creatine kinase concentr... |
ORPHA:79240 |
| Sarcoidosis, Susceptibility To, 1 |
|
Inflammation of the large intestine, Pancytopenia, Abnormality of T cell physiology, Splenomegaly... |
OMIM:181000 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Aminoaciduria, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Proteinuria, Anemia, Ren... |
OMIM:220110 |
| Immunodeficiency 55 |
|
Lymphopenia, Absent natural killer cells, Lymphadenopathy, Neutropenia |
OMIM:617827 |
| Nephronophthisis 3 |
|
Hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinu... |
OMIM:604387 |
| Congenital Nephrotic Syndrome, Finnish Type |
|
Proteinuria, Elevated amniotic fluid alpha-fetoprotein, Nephrotic syndrome, Abnormal renal tubule... |
ORPHA:839 |
| Trichinellosis |
|
Increased circulating IgE level, Skin rash, Nausea, Conjunctivitis, Dysphagia |
ORPHA:863 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Chronic kidney disease, Acute kidney injury, Oliguria, Urinary retention, Recurrent urinary tract... |
ORPHA:976 |
| Staphylococcal Necrotizing Pneumonia |
|
Elevated circulating C-reactive protein concentration, Leukopenia, Leukocytosis, Neutrophilia |
ORPHA:36238 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Bone marrow hypocellularity, Retrognathia, Pancytopenia, Leukopenia, Micrognathia, Hypocalcemia, ... |
ORPHA:2785 |
| Ogden Syndrome |
|
Polycythemia, Eczematoid dermatitis, Recurrent otitis media, Hyperbilirubinemia, Microvesicular h... |
OMIM:300855 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Elevated circulating acylcarnitine concentration, Red-brown urine, Stage 5 chronic kidney disease... |
ORPHA:228302 |
| Infantile Liver Failure Syndrome 3 |
|
Hepatic bridging fibrosis, Cholestasis, Splenomegaly, Hepatic steatosis, Hyperammonemia, Hepatome... |
OMIM:618641 |
| Abcd Syndrome |
|
Polycythemia |
OMIM:600501 |
| Fanconi-Bickel Syndrome |
|
Hypouricemia, Intrahepatic cholestasis, Generalized aminoaciduria, Ketonuria, Beta 2-microglobuli... |
OMIM:227810 |
| Dyskeratosis Congenita |
|
Bone marrow hypocellularity, Hypoplasia of the maxilla, Carious teeth, Splenomegaly, Taurodontia,... |
ORPHA:1775 |
| Myopathy With Lactic Acidosis, Hereditary |
|
Sideroblastic anemia, Leukopenia, Elevated circulating creatine kinase concentration, Myoglobinur... |
OMIM:255125 |
| Lathosterolosis |
|
Intrahepatic cholestasis, Micrognathia, Abnormal platelet morphology, Thrombocytopenia, Anisopoik... |
ORPHA:46059 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Inability to walk, Hypoplasia of the maxilla, Micrognathia |
OMIM:166300 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Pneumonia, Rheumatoid arthritis, Systemic lupus erythematosus, Recurrent otitis media, Lymphopeni... |
OMIM:607944 |
| Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies |
|
Retrognathia, Lymphopenia, Pancytopenia, Leukopenia, Micrognathia, Thrombocytopenia, Anemia, Hypo... |
OMIM:620654 |
| Diamond-Blackfan Anemia 1 |
|
Increased mean corpuscular volume, Retrognathia, Persistence of hemoglobin F, Elevated red cell a... |
OMIM:105650 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Splenomegaly, Impaired T cell function |
OMIM:201100 |
| Adams-Oliver Syndrome |
|
Ascites, Leukopenia, Portal hypertension, Congenital hepatic fibrosis, Cirrhosis, Thrombocytopenia |
ORPHA:974 |
| Parenteral Nutrition-Associated Cholestasis |
|
Hepatic fibrosis, Cholelithiasis, Hyperlipidemia, Splenomegaly, Hepatic steatosis, Portal hyperte... |
ORPHA:567983 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Broad-based gait, Abnormal circulating lipid concentration, Lymphopenia, Dysmetria, Gait disturba... |
OMIM:616541 |
| Kagami-Ogata Syndrome |
|
Hypoplasia of the maxilla, Retrognathia, Micrognathia, Splenomegaly, Hepatomegaly |
OMIM:608149 |
| Desmoplastic Small Round Cell Tumor |
|
Ascites, Hepatomegaly, Lymphadenopathy, Abnormal peritoneum morphology, Anemia, Mediastinal lymph... |
ORPHA:83469 |
| Nodular Non-Suppurative Panniculitis |
|
Autoimmunity, Splenomegaly, Inflammatory abnormality of the eye, Hepatomegaly, Panniculitis |
ORPHA:33577 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Erythroid hyperplasia, Elevated hepatic iron concentration, Hypochromia, Anemia, Decreased mean c... |
OMIM:206100 |
| Nephronophthisis 9 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Polyuria, Anemia, Renal cortical microcysts |
OMIM:613824 |
| Tarp Syndrome |
|
Horseshoe kidney, Hydronephrosis, Extramedullary hematopoiesis |
ORPHA:2886 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Increased circulating 18-hydroxycortisone level, Hyponatremia, Increased circulating corticostero... |
OMIM:610600 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Ataxia, Cholelithiasis, Abnormal circulating lipid concentration, Increased LDL cholesterol conce... |
ORPHA:77293 |
| Fanconi Renotubular Syndrome 5 |
|
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Hypophosphatemic rickets, Proteinuria,... |
OMIM:618913 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Abnormal circulating chemokine concentration, Pneumonia, Acute kidney injury, Oliguria, Septic ar... |
ORPHA:544482 |
| Senior-Boichis Syndrome |
|
Chronic kidney disease, Abnormal urinary electrolyte concentration, Cholestasis, Hepatosplenomega... |
ORPHA:84081 |
| Reynolds Syndrome |
|
Biliary cirrhosis, Anti-centromere antibody positivity, Elevated circulating hepatic transaminase... |
OMIM:613471 |
| Fanconi Renotubular Syndrome 2 |
|
Renal phosphate wasting, Generalized aminoaciduria, Proximal tubulopathy, Glycosuria, Decreased g... |
OMIM:613388 |
| Scrub Typhus |
|
Renal insufficiency, Skin rash, Splenomegaly, Infectious encephalitis, Lymphadenopathy, Myocardit... |
ORPHA:83317 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hepatitis, Decreased li... |
ORPHA:415 |
| Hypouricemia, Renal, 1 |
|
Hypouricemia, Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Elevated circulati... |
OMIM:220150 |
| Neuroleptic Malignant Syndrome |
|
Acute kidney injury, Hyperphosphatemia, Hypomagnesemia, Aspiration pneumonia, Leukocytosis, Hypoc... |
ORPHA:94093 |
| Polycythemia Vera |
|
Acute leukemia, Polycythemia, Leukocytosis, Splenomegaly, Portal hypertension, Portal vein thromb... |
ORPHA:729 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Cholestasis, Hypersplenism, Hepatosplenomegaly, Congenital hepatic fibrosis, Increased serum bile... |
ORPHA:731 |
| Osteootohepatoenteric Syndrome |
|
Hepatic fibrosis, Portal fibrosis, Cholestasis, Increased serum bile acid concentration, Hypokale... |
OMIM:619377 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Inflammation of the large intestine, Periodontitis, Hepatic steatosis, Tubulointerstitial fibrosi... |
ORPHA:79259 |
| Alagille Syndrome 2 |
|
Cholestatic liver disease, Renal hypoplasia, Cholestasis, Renal insufficiency, Renal tubular acid... |
OMIM:610205 |
| Hyperparathyroidism, Neonatal Severe |
|
Aminoaciduria, Splenomegaly, Hyperphosphaturia, Anemia, Hypophosphatemia, Hypercalciuria, Polyuri... |
OMIM:239200 |
| Atelis Syndrome 2 |
|
Anemia, Dysmetria, Micrognathia, Thrombocytopenia |
OMIM:620185 |
| Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Cholestasis, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice |
ORPHA:59303 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Delayed eruption of teeth, Micronodular cirrhosis, Ascites, Splenomegaly, Thrombocytopenia, Ataxi... |
OMIM:301072 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypouricemia, Aminoaciduria, Nephrocalcinosis, Glycosuria, Hyperphosphaturia, Proteinuria, Hypoph... |
OMIM:616026 |
| Dubowitz Syndrome |
|
Decreased circulating IgG level, Aplastic anemia, Eczematoid dermatitis, Hypocholesterolemia, Dec... |
OMIM:223370 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Hepatic steatosis, Splenomegaly, Polycystic ovaries, Hyperuricemia, Cirrhosis, Pancreatitis, Hype... |
ORPHA:79083 |
| 16Q24.3 Microdeletion Syndrome |
|
Micrognathia, Increased mean corpuscular volume, Thrombocytopenia |
ORPHA:261250 |
| Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Renal insufficiency, Hyperalaninemia, Hypochromic microcytic anemia, Anemia, Increased serum pyru... |
OMIM:619147 |
| Cystinosis |
|
Nephropathy, Aminoaciduria, Portal hypertension, Renal insufficiency, Renal tubular dysfunction, ... |
ORPHA:213 |
| Fanconi Anemia, Complementation Group D2 |
|
Bone marrow hypocellularity, Duplicated collecting system, Annular pancreas, Renal agenesis, Hors... |
OMIM:227646 |
| Chronic Granulomatous Disease |
|
Eczematoid dermatitis, Splenomegaly, Otitis media, Inflammatory abnormality of the eye, Sinusitis... |
ORPHA:379 |
| Maternal Uniparental Disomy Of Chromosome 1 |
|
Panhypogammaglobulinemia |
ORPHA:251009 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Difficulty walking, Dysmetria, Thrombocytopenia, Ataxia, Athetosis |
ORPHA:572798 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Increased circulating ferritin concentration, Joint stiffness, Portal hypertension, Splenomegaly,... |
ORPHA:465508 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Ataxia, Elevated circulating palmitoleylcarnitine concentration, Hyperammonemia, Hypomethioninemi... |
ORPHA:79282 |
| Hellp Syndrome |
|
Decreased mean corpuscular hemoglobin concentration, Thrombocytopenia, Hemolytic anemia, Microang... |
ORPHA:244242 |
| Vici Syndrome |
|
Decreased circulating IgG level, Cutaneous anergy, Chronic mucocutaneous candidiasis, Lymphopenia... |
OMIM:242840 |
| Alport Syndrome 2, Autosomal Recessive |
|
Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Stag... |
OMIM:203780 |
| Fabry Disease |
|
Lipiduria, Renal insufficiency, Proteinuria, Left ventricular hypertrophy, Anemia, Urinary mulber... |
OMIM:301500 |
| Noonan Syndrome 4 |
|
Dental malocclusion, Thrombocytopenia |
OMIM:610733 |
| Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Neonatal alloimmune thrombocytopenia |
ORPHA:853 |
| Fanconi Anemia, Complementation Group R |
|
Anemia, Bone marrow hypocellularity, Pelvic kidney |
OMIM:617244 |
| Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Chronic sinusitis, Chronic rhinitis, Asplenia, Chronic otitis media, Bronchiectasis |
OMIM:244400 |
| Cartilage-Hair Hypoplasia |
|
Lymphopenia, Macrocytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Conge... |
OMIM:250250 |
| X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Hypoplasia of the maxilla, Mandibular prognathia |
ORPHA:93950 |
| Fanconi Renotubular Syndrome 1 |
|
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphatur... |
OMIM:134600 |
| Wolfram Syndrome 2 |
|
Decreased circulating antibody level, Impaired collagen-induced platelet aggregation |
OMIM:604928 |
| Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hypoplasia of the maxilla, Retrognathia, Micrognathia, Malar flattening, Hyponatremia, Mandibular... |
OMIM:620157 |
| Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Lymphopenia |
ORPHA:391307 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Abnormality of complement system, Splenomegaly, Hepatic steatosis, Glomerulopathy, Pancreatitis, ... |
ORPHA:2348 |
| Isolated Biliary Atresia |
|
Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating hepatic trans... |
ORPHA:30391 |
| Pycnodysostosis |
|
Hypoplasia of the maxilla, Carious teeth, Dental malocclusion, Hepatosplenomegaly, Micrognathia, ... |
ORPHA:763 |
| Farber Disease |
|
Hepatic fibrosis, Ascites, Hepatosplenomegaly, Lymphadenopathy, Thrombocytopenia, Intrahepatic ch... |
ORPHA:333 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating acylcarnitine concentration, Red-brown urine, Dicarboxylic aciduria, Decreas... |
ORPHA:228308 |
| Paroxysmal Nocturnal Hemoglobinuria 2 |
|
Hemolytic anemia, Paroxysmal nocturnal hemoglobinuria |
OMIM:615399 |
| Granulomatosis With Polyangiitis |
|
Hydronephrosis, Ureteral stenosis, Autoimmunity, Renal insufficiency, Otitis media, Skin rash, He... |
ORPHA:900 |
| Ring Chromosome 21 Syndrome |
|
Decreased circulating antibody level |
ORPHA:1445 |
| Acute Disseminated Encephalomyelitis |
|
Myelitis, Herpes simplex encephalitis, Optic neuritis, Anti-myelin oligodendrocyte glycoprotein a... |
ORPHA:83597 |
| Generalized Pustular Psoriasis |
|
Hypoalbuminemia, Lymphopenia, Leukocytosis, Hypocalcemia, Hyponatremia, Elevated circulating C-re... |
ORPHA:247353 |
| Dent Disease 1 |
|
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Nephrocalcinosis, Proximal tubulo... |
OMIM:300009 |
| Revesz Syndrome |
|
Bone marrow hypocellularity, Broad-based gait, Aplastic anemia, Macrocytic anemia, Neutropenia, A... |
OMIM:268130 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Nephrocalcinosis, Abnormality of the urinary system, Decreased circulating IgA level, Low alkalin... |
ORPHA:369837 |
| Acute Liver Failure |
|
Acute kidney injury, Elevated circulating hepatic transaminase concentration, Hepatitis, Hepatoce... |
ORPHA:90062 |
| Glycogen Storage Disease Xi |
|
Myoglobinuria, Increased serum pyruvate, Renal insufficiency, Elevated circulating creatine kinas... |
OMIM:612933 |
| Sarcoidosis, Susceptibility To, 2 |
|
Splenomegaly, Erythema nodosum, Hepatomegaly, Mediastinal lymphadenopathy, Bronchiectasis, Uveitis |
OMIM:612387 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Elevated circulating acylcarnitine concentration, Red-brown urine, Decreased plasma free carnitin... |
ORPHA:157 |
| Hennekam Syndrome |
|
Erysipelas, Horseshoe kidney, Lymphopenia, Ascites, Splenomegaly, Lymphangioma, Lymphadenopathy, ... |
ORPHA:2136 |
| Split-Hand/Foot Malformation 3 |
|
Hypoplasia of the maxilla, Microretrognathia |
OMIM:246560 |
| Cirrhosis, Familial |
|
Increased level of L-fucose in urine, Biliary cirrhosis, Micronodular cirrhosis, Ascites, Cirrhos... |
OMIM:215600 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Decreased circulating total IgM |
OMIM:618162 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Hepatomegaly, Micrognathia, Decreased hemoglobin concentration, Thrombocytopenia |
OMIM:619005 |
| Distal Renal Tubular Acidosis |
|
Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria, Decrease... |
ORPHA:18 |
| Cowden Syndrome 1 |
|
Lymphopenia, Hypoplasia of the maxilla, Micrognathia |
OMIM:158350 |
| Cystinosis, Nephropathic |
|
Decreased circulating carnitine concentration, Hematuria, Hypophosphatemia, Hepatomegaly, Aminoac... |
OMIM:219800 |
| Primary Ciliary Dyskinesia |
|
Polysplenia, Recurrent otitis media, Chronic sinusitis, Chronic rhinitis, Asplenia, Chronic otiti... |
ORPHA:244 |
| Renal Dysplasia |
|
Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure... |
ORPHA:93108 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed epiphyseal ossification, Hypochromic anemia, Rickets, Osteomalacia, Leukocytosis, Hypocal... |
ORPHA:289157 |
| Congenital Pulmonary Lymphangiectasia |
|
Hepatomegaly, Splenomegaly, Ascites |
ORPHA:2414 |
| Down Syndrome |
|
Polycythemia, Acute megakaryocytic leukemia, Abnormality of the lymphatic system, Gait disturbanc... |
ORPHA:870 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Micrognathia, Thrombocytopenia |
ORPHA:3320 |
| Distal 16P11.2 Microdeletion Syndrome |
|
Chronic kidney disease, Renal agenesis, Vesicoureteral reflux, Hyperuricemia, Proteinuria, Abnorm... |
ORPHA:261222 |
| Kaufman Oculocerebrofacial Syndrome |
|
Hypocholesterolemia, Optic disc pallor |
OMIM:244450 |
| Bcard Syndrome |
|
Malar flattening, Thrombocytopenia |
OMIM:612394 |
| Autosomal Recessive Distal Osteolysis Syndrome |
|
Hypoplasia of the maxilla |
ORPHA:2776 |
| Onychotrichodysplasia And Neutropenia |
|
Chronic irritative conjunctivitis, Lymphocytosis, Chronic neutropenia, Neutropenia |
OMIM:258360 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Hypoalbuminemia, Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Renal ... |
OMIM:614748 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Periportal fibrosis, Decreased circulating carnitine concentration, Hepatocellular necrosis, Dica... |
OMIM:201475 |
| Fanconi Anemia, Complementation Group B |
|
Aplastic anemia, Thrombocytopenia |
OMIM:300514 |
| Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level |
OMIM:620126 |
| Toxic Epidermal Necrolysis |
|
Anemia, Thrombocytopenia, Pancreatitis, Neutropenia |
ORPHA:537 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Glycosuria, Hypophosphatemic rickets, Pancreatic islet-cell hyperplasia, Increased hepatic glycog... |
ORPHA:263455 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Reduced blood urea nitrogen, Decreased serum creatinine, Decreased circulating reni... |
OMIM:300539 |
| Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Hemolytic anemia, Paroxysmal nocturnal hemoglobinuria |
OMIM:612300 |
| Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Nephronophthisis, Stage 5 chronic kidney disease, Renal... |
OMIM:256100 |
| Hypomagnesemia 3, Renal |
|
Chronic kidney disease, Hyperphosphatemia, Hematuria, Macroscopic hematuria, Abnormal circulating... |
OMIM:248250 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Hepatosplenomegaly, Reticulocytopenia, Dysplastic erythropoesis, Elevated hepatic iron concentrat... |
ORPHA:300298 |
| Myoglobinuria, Autosomal Dominant |
|
Acute kidney injury, Myoglobinuria, Elevated circulating creatine kinase concentration |
OMIM:160010 |
| Fanconi Renotubular Syndrome 3 |
|
Aminoaciduria, Glycosuria, Elevated circulating creatinine concentration, Low-molecular-weight pr... |
OMIM:615605 |
| Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Hypoplasia of the maxilla, Mandibular prognathia |
ORPHA:397973 |
| Glycogen Storage Disease X |
|
Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinase concentration |
OMIM:261670 |
| Ivic Syndrome |
|
Leukocytosis, Thrombocytopenia |
OMIM:147750 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level |
OMIM:620125 |
| Maxillonasal Dysplasia |
|
Hypoplasia of the maxilla, Mandibular prognathia |
ORPHA:1248 |
| Dental Anomalies And Short Stature |
|
Hypoplasia of the maxilla, Mandibular prognathia, Amelogenesis imperfecta |
OMIM:601216 |
| Galloway-Mowat Syndrome 10 |
|
Proteinuria, Stage 5 chronic kidney disease, Podocyte foot process effacement, Diffuse mesangial ... |
OMIM:619609 |
| Meige Disease |
|
Recurrent bacterial skin infections, Lymph node hypoplasia, Recurrent skin infections, Absence of... |
ORPHA:90186 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated circulating acylcarnitine concentration, Red-brown urine, Decreased plasma free carnitin... |
ORPHA:228305 |
| Stevens-Johnson Syndrome |
|
Anemia, Abnormality of neutrophils, Pancreatitis, Thrombocytopenia |
ORPHA:36426 |
| Poikiloderma With Neutropenia |
|
Recurrent pneumonia, Recurrent otitis media, Leukopenia, Splenomegaly, Recurrent sinusitis, Eleva... |
OMIM:604173 |
| Arima Syndrome |
|
Hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease, Hepatic steatosis, Renal sodi... |
OMIM:243910 |
| Mcleod Syndrome |
|
Acanthocytosis, Splenomegaly, Reduced haptoglobin level, Elevated circulating creatine kinase con... |
OMIM:300842 |
| Neutral Lipid Storage Disease With Myopathy |
|
Chronic pancreatitis, Splenomegaly, Hepatic steatosis, Elevated circulating creatine kinase conce... |
OMIM:610717 |
| Cohen Syndrome |
|
Hypoplasia of the maxilla, Micrognathia, Hypoplasia of the zygomatic bone, Neutropenia |
ORPHA:193 |
| Congenital Analbuminemia |
|
Hypoalbuminemia, Hyperlipidemia, Increased circulating antibody level, Hypercholesterolemia, Hypo... |
ORPHA:86816 |
| Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Cholelithiasis, Splenomegaly, Macrocytic anemia, Cholecystitis, Prolonged neon... |
OMIM:615512 |
| Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hypoplasia of the maxilla |
OMIM:618302 |
| 20P12.3 Microdeletion Syndrome |
|
Hypoplasia of the maxilla, Malar flattening |
ORPHA:261295 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Cholestatic liver disease, Polysplenia, Exocrine pancreatic insufficiency, Sple... |
OMIM:619418 |
| Papillorenal Syndrome |
|
Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Elevate... |
OMIM:120330 |
| Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria, Dark urine, Elevated... |
ORPHA:368 |
| Nephronophthisis 4 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubulointerstitia... |
OMIM:606966 |
| Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Hypoplasia of the maxilla |
OMIM:156510 |
| Nk-Cell Enteropathy |
|
Hematochezia, Diarrhea, Gastroesophageal reflux, Increased T cell count, Constipation |
ORPHA:263665 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Ataxia |
OMIM:612199 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency |
|
Myoglobinuria, Increased serum pyruvate, Renal insufficiency, Elevated circulating creatine kinas... |
ORPHA:2364 |
| Tropical Endomyocardial Fibrosis |
|
Hypoalbuminemia, Ascites, Splenomegaly, Cardiomegaly, Eosinophilia, Hepatomegaly |
ORPHA:75565 |
| Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Hip osteoarthritis, Hepatosplenomegaly, Synovitis, Knee osteoarthritis, Antinuclear antibody posi... |
ORPHA:85408 |
| Viss Syndrome |
|
Atopic dermatitis, Gastroesophageal reflux, Eczematoid dermatitis, Increased circulating IgE leve... |
OMIM:619472 |
| Leukocyte Adhesion Deficiency Type Ii |
|
Ataxia, Microcytic anemia, Leukocytosis, Hepatomegaly, Impaired tandem gait, Neutrophilia, Anemia... |
ORPHA:99843 |
| Oligomeganephronia |
|
Unilateral renal agenesis, Abnormal nephron morphology, Glomerulomegaly, Bilateral renal hypoplas... |
ORPHA:2260 |
| Juvenile Nephropathic Cystinosis |
|
Hypouricemia, Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Proximal tubulopath... |
ORPHA:411634 |
| Scleromyxedema |
|
Paraproteinemia, Abnormality of the kidney, Elevated circulating creatine kinase concentration |
ORPHA:167635 |
| Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Acute kidney injury, Hyperkalemia, Myoglobinuria, Elevated circulating creatine kinase concentration |
OMIM:268200 |
| Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulopathy, Elliptocytosis, Microscopic hematuria |
ORPHA:86818 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Inability to walk, Hypoplasia of the maxilla |
OMIM:218000 |
| Dyskeratosis Congenita, X-Linked |
|
Bone marrow hypocellularity, Carious teeth, Pancytopenia, Leukopenia, Acute myeloid leukemia, Cir... |
OMIM:305000 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Hydronephrosis, Moderate albuminuria, Periodontitis |
OMIM:619269 |
| Mgat2-Cdg |
|
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Impai... |
ORPHA:79329 |
| Carpenter Syndrome 1 |
|
Hypoplasia of the maxilla, Polysplenia, Persistence of primary teeth, Micrognathia, Malar flattening |
OMIM:201000 |
| Glycogen Storage Disease V |
|
Myoglobinuria, Dark urine, Hyperuricemia, Elevated circulating creatine kinase concentration |
OMIM:232600 |
| Hardikar Syndrome |
|
Portal inflammation, Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, Hypersplenism, Cirrhosi... |
OMIM:301068 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Hypoplasia of the maxilla, Mandibular prognathia |
OMIM:300676 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 15 |
|
Hypoplasia of the maxilla |
OMIM:618737 |
| Say-Barber-Miller Syndrome |
|
Decreased circulating IgG level, Eczematoid dermatitis, Panniculitis, Transient hypogammaglobulin... |
ORPHA:3132 |
| Trichothiodystrophy 5, Nonphotosensitive |
|
Micropenis, Chronic decreased circulating IgG1 |
OMIM:300953 |
| Smith-Lemli-Opitz Syndrome |
|
Hypoalbuminemia, Cholestatic liver disease, Hypocholesterolemia, Epiphyseal stippling, Elevated c... |
OMIM:270400 |
| Craniofacial-Deafness-Hand Syndrome |
|
Hypoplasia of the maxilla |
ORPHA:1529 |
| Malan Syndrome |
|
Advanced eruption of teeth, Mandibular prognathia, Retrognathia, Hyperplasia of the premaxilla |
OMIM:614753 |
| Spondylospinal Thoracic Dysostosis |
|
Hypoplasia of the maxilla, Micrognathia |
OMIM:601809 |
| Interstitial Cystitis |
|
Functional abnormality of the bladder, Abnormality of the urethra, Abnormality of tumor necrosis ... |
ORPHA:37202 |
| Denys-Drash Syndrome |
|
Nephropathy, Proteinuria, Nephrotic syndrome, Nephroblastoma |
ORPHA:220 |
| Renal Cysts And Diabetes Syndrome |
|
Unilateral renal agenesis, Renal hypoplasia, Pancreatic hypoplasia, Glycosuria, Exocrine pancreat... |
OMIM:137920 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
HbH hemoglobin, Malar flattening, Absent frontal sinuses, Hypochromic microcytic anemia, Reduced ... |
OMIM:301040 |
| 21Q22.11Q22.12 Microdeletion Syndrome |
|
Anemia, Thrombocytopenia |
ORPHA:261323 |
| Immunodeficiency 12 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, Absent isohem... |
OMIM:615468 |
| X-Linked Intellectual Disability, Porteous Type |
|
Hypoplasia of the maxilla, Mandibular prognathia |
ORPHA:93945 |
| Proteus-Like Syndrome |
|
Thymus hyperplasia, Abnormality of the parathyroid gland, Hyperostosis, Splenomegaly, Polycystic ... |
ORPHA:2969 |
| Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Hypoplasia of the maxilla |
ORPHA:85279 |
| Genetic Recurrent Myoglobinuria |
|
Acute kidney injury, Oliguria, Hyperphosphatemia, Exercise-induced myoglobinuria, Dark urine, Ren... |
ORPHA:99845 |
| Scheie Syndrome |
|
Hepatomegaly, Rhinitis, Mucopolysacchariduria, Splenomegaly |
ORPHA:93474 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria, Predominantly dermal... |
ORPHA:284426 |
| Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Short mandibular condyles, Hypoplasia of the maxilla |
OMIM:264270 |
| Malakoplakia |
|
Inflammatory abnormality of the skin, Urinary bladder inflammation, Urinary hesitancy, Follicular... |
ORPHA:556 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Jaundice, Moderate albuminuria |
OMIM:614231 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Hepatic fibrosis, Cholelithiasis, Broad-based gait, Abnormality of the spleen, Hepatosplenomegaly... |
ORPHA:2072 |
| Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Difficulty walking, Hypoplasia of the maxilla, Inability to walk, Ataxia |
ORPHA:481152 |
| Biotinidase Deficiency |
|
Hepatomegaly, Splenomegaly, Optic atrophy, Hyperammonemia |
OMIM:253260 |
| Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Renal phosphate wasting, Chronic kidney disease, Decreased circulating carnitine co... |
ORPHA:3337 |
| Renal Nutcracker Syndrome |
|
Renal artery stenosis, Hematuria, Proteinuria, Anemia, Microscopic hematuria |
ORPHA:71273 |
| Mandibulofacial Dysostosis With Alopecia |
|
Hypoplasia of the maxilla, Micrognathia, Trismus, Delayed eruption of primary teeth |
OMIM:616367 |
| Dubowitz Syndrome |
|
Delayed eruption of teeth, Micrognathia, Thrombocytopenia, Anemia, Abnormality of neutrophils, Ac... |
ORPHA:235 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal phosphate wasting, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-mole... |
OMIM:300554 |
| Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones |
|
Hypoplasia of the maxilla |
OMIM:608154 |
| Frontonasal Dysplasia 1 |
|
Hypoplasia of the maxilla, Hypoplastic frontal sinuses |
OMIM:136760 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Elevated circulating long chain fatty acid concentration, Cholelithiasis, Hyperbilirubinemia, Pro... |
OMIM:614886 |
| Ddost-Cdg |
|
Nephrotic range proteinuria, Hepatic steatosis |
ORPHA:300536 |
| Wild Type Attr Amyloidosis |
|
Nephropathy, Renal insufficiency, Proteinuria, Hepatomegaly, Nephrotic syndrome |
ORPHA:330001 |
| Agel Amyloidosis |
|
Proteinuria, Stage 5 chronic kidney disease, Abnormal spleen morphology, Keratoconjunctivitis sicca |
ORPHA:85448 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Ascites, Abnormality of the liver, Hyperbilirubinemia, Thrombocytopenia |
ORPHA:464321 |
| Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Thrombocytopenia, Hyperglycinemia, Hypernatremia |
OMIM:620423 |
| Sjogren Syndrome |
|
Tubulointerstitial nephritis, Rheumatoid arthritis, Autoimmunity, Keratoconjunctivitis sicca |
OMIM:270150 |
| Jackson-Weiss Syndrome |
|
Hypoplasia of the maxilla, Mandibular prognathia |
ORPHA:1540 |
| Mosaic Trisomy 9 |
|
Horseshoe kidney, Hydronephrosis, Multiple renal cysts, Asplenia, Hypoplasia of penis, Renal dysp... |
ORPHA:99776 |
| Stickler Syndrome Type 1 |
|
Hypoplasia of the maxilla |
ORPHA:90653 |
| Nijmegen Breakage Syndrome |
|
Acute leukemia, Retrognathia, Autoimmune hemolytic anemia, Thrombocytopenia, Hemolytic anemia |
ORPHA:647 |
| Distal Xq28 Microduplication Syndrome |
|
Hypoplasia of the maxilla, Neonatal hyperbilirubinemia, Tip-toe gait |
ORPHA:293939 |
| Nephronophthisis 11 |
|
Hepatic fibrosis, Nephronophthisis, Tubular basement membrane disintegration, Stage 5 chronic kid... |
OMIM:613550 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hypoplasia of the maxilla, Malar flattening |
ORPHA:93262 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Hematuria, Proteinuria, Tubulointerstitial nephritis |
OMIM:616901 |
| Angelman Syndrome |
|
Hypoplasia of the maxilla, Broad-based gait, Progressive gait ataxia, Ataxia, Mandibular prognathia |
OMIM:105830 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Lymphopenia, Micrognathia, Dysmetria, Ataxia |
OMIM:619708 |
| Monosomy 18Q |
|
Micropenis, Decreased circulating IgA level |
ORPHA:1600 |
| Dislocation Of The Hip-Dysmorphism Syndrome |
|
Malar flattening, Prominence of the premaxilla |
ORPHA:2412 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hyperbilirubinemia, Absent gallbladder, Hypocalcemia, Thrombocytopenia, Anemia |
ORPHA:163979 |
| Aarskog-Scott Syndrome |
|
Hypoplasia of the maxilla, Delayed eruption of teeth |
ORPHA:915 |
| Lujan-Fryns Syndrome |
|
Hypoplasia of the maxilla, Micrognathia |
ORPHA:776 |
| Fibular Hemimelia |
|
Difficulty walking, Thrombocytopenia |
ORPHA:93323 |
| Okur-Chung Neurodevelopmental Syndrome |
|
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ... |
OMIM:617062 |
| Niemann-Pick Disease, Type C1 |
|
Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Prolonged neonatal jaundice, Hepatomegaly, B... |
OMIM:257220 |
| Rat-Bite Fever |
|
Septic arthritis, Lymphadenitis, Parotitis, Morbilliform rash, Abdominal aseptic abscess, Skin ra... |
ORPHA:31205 |
| Alström Syndrome |
|
Chronic kidney disease, Elevated gamma-glutamyltransferase level, Hepatosplenomegaly, Hepatic ste... |
ORPHA:64 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Increased circulating free fatty acid level, Decreased circulating carnitine concentration, Abnor... |
ORPHA:71212 |
| Cleft Lip/Palate |
|
Hypoplasia of the maxilla, Dental malocclusion, Peg-shaped maxillary lateral incisors, Abnormalit... |
ORPHA:199306 |
| Deeah Syndrome |
|
Retrognathia, Exocrine pancreatic insufficiency, Thrombocytopenia, Hepatomegaly, Decreased hemogl... |
OMIM:619004 |
| Congenital Alveolar Capillary Dysplasia |
|
Hydronephrosis, Asplenia, Absent gallbladder, Annular pancreas |
ORPHA:210122 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:847 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hyperlipidemia, Splenomegaly, Elevated circulating creatine kinase concentration, Pancreatitis, H... |
ORPHA:565612 |
| Leiomyomatosis, Diffuse, With Alport Syndrome |
|
Nephropathy, Thickened glomerular basement membrane, Glomerular basement membrane lamellation, St... |
OMIM:308940 |
| Lowry-Maclean Syndrome |
|
Hypoplasia of the maxilla, Abnormality of the abdominal organs, Retrognathia, Micrognathia, Delay... |
ORPHA:2409 |
| Keipert Syndrome |
|
Hypoplasia of the maxilla |
ORPHA:2662 |
| Pde4D Haploinsufficiency Syndrome |
|
Hypoplasia of the maxilla, Abnormal dental enamel morphology, Micrognathia, Malar flattening, Man... |
ORPHA:439822 |
| Becker Muscular Dystrophy |
|
Myoglobinuria, Abnormal urinary color, Elevated circulating creatine kinase concentration |
ORPHA:98895 |
| Cardiofacioneurodevelopmental Syndrome |
|
Asplenia, Abdominal situs inversus |
OMIM:619123 |
| Martin-Probst Syndrome |
|
Pancytopenia, Renal insufficiency, Proteinuria, Chordee, Micropenis |
OMIM:300519 |
| 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Myoglobinuria, Hepatic necrosis, Hepatic steatosis, Dicarboxylic aciduria |
OMIM:231530 |
| Melanocytic Nevus Syndrome, Congenital |
|
Prominence of the premaxilla |
OMIM:137550 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatic fibrosis, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cholangitis, Intrahe... |
OMIM:607626 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Shuffling gait, Hypoplasia of the maxilla, Cholelithiasis, Micrognathia, Mandibular prognathia |
OMIM:300534 |
| Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced |
|
Myoglobinuria, Renal insufficiency |
OMIM:255110 |
| Senior-Loken Syndrome 1 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Impaired renal concentrati... |
OMIM:266900 |
| Cushing Disease |
|
Lymphopenia, Decreased eosinophil count, Leukocytosis |
ORPHA:96253 |
| Khan-Khan-Katsanis Syndrome |
|
Anemia, Lymphopenia, Micrognathia, Neutropenia |
OMIM:618460 |
| Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Nephropathy, Proteinuria |
ORPHA:2774 |
| Donnai-Barrow Syndrome |
|
Proteinuria |
ORPHA:2143 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Hypoplasia of the maxilla, Persistence of primary teeth, Micrognathia, Malar flattening, Prominen... |
OMIM:170390 |
| Digeorge Syndrome |
|
Unilateral renal agenesis, Cholelithiasis, Recurrent pneumonia, Impaired T cell function, Recurre... |
OMIM:188400 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Myoglobinuria, Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
| 22Q11.2 Deletion Syndrome |
|
Hypospadias, Cholelithiasis, Renal hypoplasia, Abnormality of thrombocytes, Impaired T cell funct... |
ORPHA:567 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Chronic kidney disease, Hepatic fibrosis, Nephritis, Renal insufficiency, Proteinuria, Renal cyst... |
OMIM:208500 |
| Hypomandibular Faciocranial Dysostosis |
|
Hypoplasia of the maxilla, Micrognathia, Malar flattening |
OMIM:241310 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Elevated circulating alpha-fetoprotein concentration, Elevated circulating creatine kinase concen... |
OMIM:606002 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Nephropathy, Chronic kidney disease, Keratitis, Aspiration pneumonia, Stage 5 chronic kidney dise... |
ORPHA:1018 |
| Right Atrial Isomerism |
|
Asplenia, Abdominal situs ambiguus, Polysplenia |
OMIM:208530 |
| Cornelia De Lange Syndrome 1 |
|
Pneumonia, Renal hypoplasia, Reduced renal corticomedullary differentiation, Vesicoureteral reflu... |
OMIM:122470 |
| Aicardi-Goutières Syndrome |
|
Neonatal alloimmune thrombocytopenia, Increased circulating interferon-gamma concentration, Hepat... |
ORPHA:51 |
| Trichothiodystrophy 1, Photosensitive |
|
Decreased circulating IgG level, Keratoconjunctivitis sicca, Erythroderma |
OMIM:601675 |
| Lymphedema-Distichiasis Syndrome |
|
Recurrent urinary tract infections, Renal duplication, Proteinuria, Glomerulopathy, Tubulointerst... |
ORPHA:33001 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Periodontitis, Hematuria, Hypophosphatemia, Proximal renal tubular acidosis, Chronic otitis media... |
ORPHA:534 |
| Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Hypoplasia of the maxilla, Micrognathia, Malar flattening |
ORPHA:79113 |
| Crouzon Syndrome |
|
Hypoplasia of the maxilla |
ORPHA:207 |
| Fabry Disease |
|
Nephropathy, Abnormal circulating lipid concentration, Hyperlipidemia, Renal insufficiency, Hemat... |
ORPHA:324 |
| Microcephaly-Capillary Malformation Syndrome |
|
Hypoplasia of the maxilla, Right ventricular hypertrophy |
OMIM:614261 |
| Mitochondrial Trifunctional Protein Deficiency 2 |
|
Hyperammonemia, Elevated circulating creatine kinase concentration, Myoglobinuria, Increased circ... |
OMIM:620300 |
| Heterotaxy, Visceral, 2, Autosomal |
|
Asplenia, Abdominal situs inversus, Polysplenia |
OMIM:605376 |
| Occipital Horn Syndrome |
|
Hepatitis, Recurrent urinary tract infections, Cholestasis, Esophagitis, Bladder diverticulum, Ja... |
ORPHA:198 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Chronic kidney disease, Decreased glomerular filtration rate, Proteinuria, Tubulointerstitial nep... |
ORPHA:488627 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Osteopenia, Optic atrophy, Splenomegaly, Hypocalcemia, Hypokalemia, Hyponatremia, Calcinosis |
OMIM:617913 |
| Malt Lymphoma |
|
Anemia, Posterior uveitis, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:52417 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxilla, Dental malocclusio... |
OMIM:257850 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Thickened glomerular basement membrane, Chronic kidney disease, Nephrocalcinosis, Unilateral rena... |
OMIM:146255 |
| Atelosteogenesis, Type Iii |
|
Hypoplasia of the maxilla, Micrognathia, Malar flattening |
OMIM:108721 |
| Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Exercise-induced myoglobinuria, Highly elevated creatine kinase |
ORPHA:352479 |
| Mohr-Tranebjaerg Syndrome |
|
Agammaglobulinemia |
ORPHA:52368 |
| Mitochondrial Trifunctional Protein Deficiency 1 |
|
Elevated circulating acylcarnitine concentration, Cholestasis, Hyperammonemia, Elevated circulati... |
OMIM:609015 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Intrahepatic cholestasis, Hyperbilirubinemia, Mild proteinuria, Increased serum bile acid concent... |
OMIM:619685 |
| Sweeney-Cox Syndrome |
|
Asplenia, Gastroesophageal reflux |
OMIM:617746 |
| Jacobsen Syndrome |
|
Micrognathia, Annular pancreas, Thrombocytopenia |
OMIM:147791 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Microcytic anemia, T lymphocytopenia |
ORPHA:2959 |
| Myoglobinuria, Recurrent |
|
Exercise-induced myoglobinuria, Recurrent myoglobinuria |
OMIM:550500 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Decreased circulating IgG level, Neutropenia |
OMIM:271510 |
| Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Hematuria, Proteinuria, Micronodular cirrhosis |
OMIM:192315 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hypoplasia of the maxilla, Malar flattening |
OMIM:109120 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Optic nerve compression, Splenomegaly, Hypocalcemia, Hepatomegaly, Hypophosphatemia, Osteopetrosi... |
ORPHA:667 |
| Exercise-Induced Malignant Hyperthermia |
|
Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Thrombocytop... |
ORPHA:466650 |
| Coffin-Lowry Syndrome |
|
Craniofacial hyperostosis, Hypoplasia of the maxilla, Delayed eruption of teeth, Advanced eruptio... |
ORPHA:192 |
| Familial Thrombocytosis |
|
Chronic myelogenous leukemia, Acute myeloid leukemia, Splenomegaly, Thrombocytosis |
ORPHA:71493 |
| Primary Hyperoxaluria Type 1 |
|
Nephrocalcinosis, Enuresis, Recurrent urinary tract infections, Decreased glomerular filtration r... |
ORPHA:93598 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level |
OMIM:171420 |
| Dyschondrosteosis-Nephritis Syndrome |
|
Nephropathy, Proteinuria, Hematuria |
ORPHA:1765 |
| Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Myoglobinuria, Elevated circulating creatine kinase concentration |
ORPHA:119 |
| Cysticercosis |
|
Increased anti-parasite IgE antibody level, Infectious encephalitis, Iridocyclitis, Increased cir... |
ORPHA:1560 |
| Glycogen Storage Disease Ixd |
|
Exercise-induced myoglobinuria, Elevated circulating creatine kinase concentration |
OMIM:300559 |
| Familial Tumoral Calcinosis |
|
Hepatomegaly, Nephrocalcinosis, Skin rash, Splenomegaly |
ORPHA:53715 |
| Severe Oculo-Renal-Cerebellar Syndrome |
|
Proteinuria, Glomerulopathy, Renal insufficiency |
ORPHA:2715 |
| Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Elevated circulating creatinine concentration, Myoglobinuria, Elevated circulating creatine kinas... |
OMIM:620138 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Proteinuria, Renal hypoplasia, Renal insufficiency |
ORPHA:1307 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Hypoplasia of the maxilla |
OMIM:167730 |
| Treacher-Collins Syndrome |
|
Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Retrognathia, Abnormal dental enamel... |
ORPHA:861 |
| Von Hippel-Lindau Syndrome |
|
Hepatic hemangioma, Pancreatic cysts, Polycythemia, Neoplasm of the pancreas |
OMIM:193300 |
| Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Hypoplasia of the maxilla, Microretrognathia |
ORPHA:228396 |
| Meckel Syndrome |
|
Accessory spleen, Multicystic kidney dysplasia, Pancreatic cysts, Congenital hepatic fibrosis, Ur... |
ORPHA:564 |
| Gaucher Disease, Type Iiic |
|
Hepatomegaly, Pancytopenia, Cardiomegaly, Splenomegaly |
OMIM:231005 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Abnormal B cell morphology, Aplasia of the thymus, T lymphocytopenia |
OMIM:618223 |
| Nager Syndrome |
|
Hypoplasia of the maxilla, Micrognathia, Hypoplasia of the zygomatic bone |
ORPHA:245 |
| Hepatoerythropoietic Porphyria |
|
Seborrhoeic blepharitis, Red-brown urine, Purple urine, Erythroid hyperplasia, Abnormal circulati... |
ORPHA:95159 |
| Greenberg Dysplasia |
|
Bone marrow hypocellularity, Hypoplasia of the maxilla, Retrognathia, Hepatosplenomegaly, Microgn... |
OMIM:215140 |
| Immunodeficiency 58 |
|
Decreased T cell activation, Decreased circulating antibody level, Decreased specific antibody re... |
OMIM:618131 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Hepatic steatosis, Splenomegaly, Polycystic ovaries, Cystic angiomatosis of bone, Cirrhosis, Hype... |
OMIM:608594 |
| Ohdo Syndrome |
|
Proteinuria |
OMIM:249620 |
| Renal Hypodysplasia/Aplasia 1 |
|
Proteinuria, Bilateral renal agenesis, Renal dysplasia |
OMIM:191830 |
| Dysostosis, Stanescu Type |
|
Abnormal dental enamel morphology, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of the zy... |
ORPHA:1798 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Splenomegaly, Hepatic steatosis, Polycystic ovaries, Cystic angiomatosis of bone, Cirrhosis, Hype... |
OMIM:269700 |
| Roberts Syndrome |
|
Micrognathia, Malar flattening, Thrombocytopenia |
ORPHA:3103 |
| Marshall Syndrome |
|
Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Micrognathia, Malar flattening, Hypo... |
ORPHA:560 |
| Cleft Velum |
|
Hypoplasia of the maxilla |
ORPHA:99772 |
| Fanconi Anemia |
|
Leukopenia, Micrognathia, Abnormality of the liver, Thrombocytopenia, Anemia, Pyridoxine-responsi... |
ORPHA:84 |
| Acrodysostosis |
|
Hypoplasia of the maxilla, Mandibular prognathia, Delayed eruption of teeth |
ORPHA:950 |
| Xfe Progeroid Syndrome |
|
Hypoalbuminemia, Proteinuria, Renal insufficiency, Ascites |
OMIM:610965 |
| Infantile Nephropathic Cystinosis |
|
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Hyperphosphaturia, Renal tubular dys... |
ORPHA:411629 |
| Blau Syndrome |
|
Nephropathy, Posterior uveitis, Keratitis, Abnormality of the liver, Stage 5 chronic kidney disea... |
ORPHA:90340 |
| Proximal Renal Tubular Acidosis |
|
Aminoaciduria, Nephrocalcinosis, Glycosuria, Hypernatriuria, Low-molecular-weight proteinuria, Bi... |
ORPHA:47159 |
| Nail-Patella Syndrome |
|
Thickened glomerular basement membrane, Nephritis, Stage 5 chronic kidney disease, Renal insuffic... |
ORPHA:2614 |
| Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Renal hypoplasia, Splenomegaly, Nephroblastoma |
OMIM:612918 |
| Osteogenesis Imperfecta |
|
Dentinogenesis imperfecta, Carious teeth, Dental malocclusion, Delayed eruption of teeth, Abnorma... |
ORPHA:666 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Abnormal lymph node morphology, Pancreatic adenocarcinoma, Lymphopenia, Neoplasm of the thymus, L... |
ORPHA:99889 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Hypoplasia of the maxilla, Micrognathia, Talon cusp |
ORPHA:363417 |
| Cardioacrofacial Dysplasia 1 |
|
Hypoplasia of the maxilla |
OMIM:619142 |
| Distal Deletion 19P |
|
Decreased circulating antibody level |
ORPHA:96129 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Optic atrophy, Decreased testicular size, Leukocytosis, Hepatic steatosis, Hypoplasia of the ovar... |
OMIM:619321 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Renal agenesis, Polysplenia, Abdominal situs inversus, Horseshoe kidney, Biliary atresia, Hepatom... |
OMIM:306955 |
| Galloway-Mowat Syndrome |
|
Nephropathy, Nephrotic syndrome, Proteinuria |
ORPHA:2065 |
| Andersen-Tawil Syndrome |
|
Abnormality of dental color, Hypoplasia of the maxilla, Micrognathia, Persistence of primary teeth |
ORPHA:37553 |
| Cockayne Syndrome |
|
Urinary incontinence, Renal hypoplasia, Unilateral renal agenesis, Malar rash, Renal insufficienc... |
ORPHA:191 |
| Meckel Syndrome, Type 1 |
|
Accessory spleen, Malformation of the hepatic ductal plate, Hypoplasia of the bladder, Renal agen... |
OMIM:249000 |
| Holoprosencephaly |
|
Abnormality of the urinary system, Abnormality of the spleen, Hyponatremia, Proteinuria, Hypoplas... |
ORPHA:2162 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Hypoplasia of the maxilla, Dental malocclusion, Hyperphosphatemia, Delayed eruption of teeth, Man... |
OMIM:101800 |
| Immunoglobulin A Vasculitis |
|
Episcleritis, Renal insufficiency, Skin rash, Infectious encephalitis, Hematuria, Pustule, Glomer... |
ORPHA:761 |
| Jacobsen Syndrome |
|
Bone marrow hypocellularity, Multicystic kidney dysplasia, Annular pancreas, Eczematoid dermatiti... |
ORPHA:2308 |
| Cockayne Syndrome A |
|
Renal insufficiency, Splenomegaly, Thymic hormone decreased, Proteinuria, Micropenis, Hepatomegaly |
OMIM:216400 |
| 8Q22.1 Microdeletion Syndrome |
|
Hypoplasia of the maxilla |
ORPHA:178303 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Exercise-induced myoglobinuria, Elevated circulating creatine kinase concentration |
OMIM:607155 |
| Van Maldergem Syndrome 1 |
|
Hypoplasia of the maxilla, Micrognathia, Dental malocclusion, Malar flattening |
OMIM:601390 |
| Renal Agenesis |
|
Unilateral renal agenesis, Renal agenesis, Bilateral renal agenesis, Ureteral agenesis, Renal ins... |
ORPHA:411709 |
| Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Asplenia |
OMIM:619657 |
| Martsolf Syndrome 1 |
|
Hypoplasia of the maxilla, Micrognathia |
OMIM:212720 |
| Aarskog-Scott Syndrome |
|
Hypoplasia of the maxilla |
OMIM:305400 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Renal hypoplasia, Ureteral stenosis, Abdominal situs inversus, Abdominal situs ambiguus, Asplenia... |
OMIM:270100 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Hypoplasia of the maxilla, Micrognathia, Gait disturbance, Delayed eruption of teeth |
OMIM:259600 |
| Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease |
|
Nephropathy, Proteinuria, Renal artery stenosis |
OMIM:209010 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Hypoplasia of the maxilla, Mandibular prognathia |
OMIM:601499 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Elevated circulating acylcarnitine concentration, Ketonuria, Hyperammonemia, Elevated circulating... |
OMIM:616878 |
| Donnai-Barrow Syndrome |
|
Proteinuria, Non-acidotic proximal tubulopathy |
OMIM:222448 |
| Mannosidosis, Alpha B, Lysosomal |
|
Decreased circulating antibody level |
OMIM:248500 |
| Feingold Syndrome 1 |
|
Accessory spleen, Asplenia, Annular pancreas, Polysplenia |
OMIM:164280 |
| Crouzon Syndrome |
|
Hypoplasia of the maxilla, Mandibular prognathia |
OMIM:123500 |
| Cerebrofacioarticular Syndrome |
|
Hypoplasia of the maxilla, Micrognathia, Ataxia |
ORPHA:314679 |
| Cockayne Syndrome B |
|
Renal insufficiency, Splenomegaly, Proteinuria, Micropenis, Hepatomegaly |
OMIM:133540 |
| Rubinstein-Taybi Syndrome 1 |
|
Accessory spleen, Hypoplasia of the maxilla, Dental malocclusion, Retrognathia, Micrognathia, Uns... |
OMIM:180849 |
| Pfeiffer Syndrome |
|
Hypoplasia of the maxilla, Mandibular prognathia |
OMIM:101600 |
| Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Myoglobinuria |
OMIM:602199 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Hypoplasia of the maxilla, Micrognathia |
OMIM:309520 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Recurrent otitis media, Proteinuria, Multiple bladder diverticula |
ORPHA:2728 |
| Van Maldergem Syndrome 2 |
|
Hypoplasia of the maxilla, Micrognathia, Dental malocclusion, Malar flattening |
OMIM:615546 |
| Pheochromocytoma |
|
Proteinuria, Renal artery stenosis, Hypercalcemia, Elevated urinary norepinephrine level |
OMIM:171300 |
| Rapp-Hodgkin Syndrome |
|
Taurodontia, Hypoplasia of the maxilla, Carious teeth, Enamel hypoplasia |
OMIM:129400 |
| Cowden Syndrome 5 |
|
Hypoplasia of the maxilla, Micrognathia |
OMIM:615108 |
| Orofaciodigital Syndrome Ii |
|
Agenesis of central incisor, Hypoplasia of the maxilla, Micrognathia, Malar flattening |
OMIM:252100 |
| Geroderma Osteodysplasticum |
|
Hypoplasia of the maxilla, Mandibular prognathia, Malar flattening |
OMIM:231070 |
| Axenfeld-Rieger Syndrome |
|
Hypoplasia of the maxilla |
ORPHA:782 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Myoglobinuria, Elevated circulating creatine kinase concentration |
ORPHA:206549 |
| Premature Aging Syndrome, Penttinen Type |
|
Hypoplasia of the maxilla, Micrognathia, Delayed eruption of teeth, Retrognathia |
OMIM:601812 |
| Cowden Syndrome 6 |
|
Hypoplasia of the maxilla, Micrognathia |
OMIM:615109 |
| Meier-Gorlin Syndrome 4 |
|
Hypoplasia of the maxilla, Micrognathia |
OMIM:613804 |
| Ectodermal Dysplasia And Immunodeficiency 2 |
|
Defective production of NFKB1-dependent cytokines, Hepatomegaly, Splenomegaly |
OMIM:612132 |
| 7Q31 Microdeletion Syndrome |
|
Hypoplasia of the maxilla |
ORPHA:251061 |
| Craniolenticulosutural Dysplasia |
|
Hypoplasia of the maxilla, Carious teeth, Hypoplasia of teeth, Delayed eruption of teeth |
ORPHA:50814 |
| Apert Syndrome |
|
Hypoplasia of the maxilla, Mandibular prognathia, Delayed eruption of teeth |
ORPHA:87 |
| Tetraamelia Syndrome 1 |
|
Asplenia, Urethral atresia, Renal agenesis |
OMIM:273395 |
| Bardet-Biedl Syndrome 20 |
|
Proteinuria, Micropenis, Pancreatitis, Hypercholesterolemia |
OMIM:619471 |
| Pseudoaminopterin Syndrome |
|
Horseshoe kidney, Asplenia |
ORPHA:221120 |
| Alkaptonuria |
|
Methemoglobinemia, Hemolytic anemia, Black pigment gallstones |
ORPHA:56 |
| Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Proteinuria, Stage 5 chronic kidney disease |
OMIM:219900 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Dilatation of the renal pelvis, Hydroureter, Annular pancreas, Dilatation of the bladder, Hydrone... |
OMIM:265380 |
| Marshall-Smith Syndrome |
|
Microretrognathia, Retrognathia, Short mandibular rami, Prominence of the premaxilla |
OMIM:602535 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Hypoplasia of the maxilla, Hypoplasia of the anterior nasal spine |
ORPHA:79345 |
| Wagro Syndrome |
|
Proteinuria, Nephroblastoma |
OMIM:612469 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Hypoplasia of the maxilla, Micrognathia, Dental malocclusion |
OMIM:182212 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hypoplasia of the maxilla, Micrognathia, Gait disturbance, Recurrent sinusitis |
OMIM:213980 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Decreased circulating antibody level |
OMIM:618183 |
| Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Hypoplasia of the maxilla, Mandibular prognathia |
ORPHA:3044 |
| Cleidocranial Dysplasia 2 |
|
Hypoplasia of the maxilla, Supernumerary tooth, Delayed eruption of primary teeth |
OMIM:620099 |
| Gorlin-Chaudhry-Moss Syndrome |
|
Hypoplasia of the maxilla |
ORPHA:2095 |
| Orofaciodigital Syndrome Type 1 |
|
Multicystic kidney dysplasia, Exocrine pancreatic insufficiency, Renal insufficiency, Proteinuria... |
ORPHA:2750 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Hypoplasia of the maxilla |
ORPHA:2399 |
| Malignant Hyperthermia Of Anesthesia |
|
Acute kidney injury, Hyperphosphatemia, Myoglobinuria, Hyperkalemia, Elevated creatine kinase aft... |
ORPHA:423 |
| Dermatomyositis |
|
Abnormal eosinophil morphology, Elevated circulating creatine kinase concentration |
ORPHA:221 |
| Meier-Gorlin Syndrome 5 |
|
Hypoplasia of the maxilla, Micrognathia |
OMIM:613805 |
| Frontorhiny |
|
Hypoplasia of the maxilla, Hypoplastic frontal sinuses |
ORPHA:391474 |
| Shprintzen-Goldberg Syndrome |
|
Hypoplasia of the maxilla, Micrognathia, Retrognathia |
ORPHA:2462 |
| Pierson Syndrome |
|
Hyperechogenic kidneys, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangial sclerosis,... |
OMIM:609049 |
| Pure Mitochondrial Myopathy |
|
Recurrent myoglobinuria |
ORPHA:254854 |
| Orofaciodigital Syndrome I |
|
Hepatic fibrosis, Hepatic cysts, Proteinuria, Pancreatic cysts, Polycystic kidney dysplasia |
OMIM:311200 |
| Meier-Gorlin Syndrome 3 |
|
Hypoplasia of the maxilla, Micrognathia, Microretrognathia |
OMIM:613803 |
| Craniofacial-Deafness-Hand Syndrome |
|
Hypoplasia of the maxilla, Malar flattening |
OMIM:122880 |
| Elsahy-Waters Syndrome |
|
Hypoplasia of the maxilla, Dental malocclusion, Delayed eruption of teeth, Impacted tooth, Malar ... |
OMIM:211380 |
| Noonan Syndrome 1 |
|
Micrognathia, Dental malocclusion, Juvenile myelomonocytic leukemia, Amegakaryocytic thrombocytop... |
OMIM:163950 |
| Osteoglophonic Dysplasia |
|
Hypoplasia of the maxilla, Delayed eruption of teeth, Eruption failure, Malar flattening, Mandibu... |
OMIM:166250 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Hypoplasia of the maxilla, Retrognathia, Hepatosplenomegaly, Micrognathia, Hepatoblastoma, Hepato... |
ORPHA:96334 |
| Barber-Say Syndrome |
|
Hypoplasia of the maxilla, Dental malocclusion, Delayed eruption of teeth, Micrognathia, Mandibul... |
OMIM:209885 |
| Saethre-Chotzen Syndrome |
|
Hypoplasia of the maxilla |
ORPHA:794 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Decreased circulating antibody level |
ORPHA:79396 |
| Lowe Oculocerebrorenal Syndrome |
|
Aminoaciduria, Elevated amniotic fluid alpha-fetoprotein, Low-molecular-weight proteinuria, Stage... |
OMIM:309000 |
| Hypohidrotic Ectodermal Dysplasia |
|
Hypoplasia of the maxilla, Sinusitis |
ORPHA:238468 |
| Cartilage-Hair Hypoplasia |
|
Decreased circulating antibody level |
ORPHA:175 |
| Williams Syndrome |
|
Chronic otitis media, Cholelithiasis, Renal insufficiency, Renal duplication, Multiple renal cyst... |
ORPHA:904 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Webbed penis, Multicystic kidney dysplasia, Recurrent otitis media, Vesicoureteral reflux, Renal ... |
ORPHA:261537 |
| Mowat-Wilson Syndrome |
|
Webbed penis, Multicystic kidney dysplasia, Vomiting, Recurrent otitis media, Vesicoureteral refl... |
ORPHA:2152 |
| Trichothiodystrophy |
|
Panhypogammaglobulinemia |
ORPHA:33364 |
| Nablus Mask-Like Facial Syndrome |
|
Hypoplasia of the maxilla, Retrognathia |
OMIM:608156 |
| Van Den Ende-Gupta Syndrome |
|
Hypoplasia of the maxilla, Micrognathia, Malar flattening |
OMIM:600920 |
| Myhre Syndrome |
|
Craniofacial hyperostosis, Hypoplasia of the maxilla, Mandibular prognathia |
ORPHA:2588 |
| Goldberg-Shprintzen Syndrome |
|
Hypoplasia of the maxilla |
OMIM:609460 |
| Myhre Syndrome |
|
Hypoplasia of the maxilla, Mandibular prognathia, Malar flattening, Ataxia |
OMIM:139210 |
| Paroxysmal Nocturnal Hemoglobinuria 1 |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:300818 |
| Ear-Patella-Short Stature Syndrome |
|
Hypoplasia of the maxilla, Micrognathia, Retrognathia, Mandibular aplasia |
ORPHA:2554 |
| Aymé-Gripp Syndrome |
|
Proteinuria, Pericarditis |
ORPHA:1272 |
| Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Hypoplasia of the maxilla, Mandibular prognathia |
ORPHA:1101 |
| Meier-Gorlin Syndrome 1 |
|
Hypoplasia of the maxilla, Micrognathia |
OMIM:224690 |
| Aicardi Syndrome |
|
Hepatoblastoma, Prominence of the premaxilla |
ORPHA:50 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Hypoplasia of the maxilla |
OMIM:106260 |
| 3Mc Syndrome 2 |
|
Prominence of the premaxilla |
OMIM:265050 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Webbed penis, Multicystic kidney dysplasia, Duplication of renal pelvis, Recurrent otitis media, ... |
ORPHA:261552 |
| Weill-Marchesani Syndrome 1 |
|
Hypoplasia of the maxilla |
OMIM:277600 |
| Aicardi Syndrome |
|
Hepatoblastoma, Prominence of the premaxilla |
OMIM:304050 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Decreased circulating IgG level, Unilateral renal agenesis, Horseshoe kidney, Secretory IgA defic... |
ORPHA:500150 |
| Bartsocas-Papas Syndrome 1 |
|
Hypoplasia of the maxilla, Micrognathia |
OMIM:263650 |
| Branchioskeletogenital Syndrome |
|
Hypoplasia of the maxilla, Carious teeth, Mandibular prognathia, Abnormal dentin morphology |
ORPHA:1299 |
| Microphthalmia With Limb Anomalies |
|
Hypoplasia of the maxilla, Hypoplasia of the premaxilla, Micrognathia |
ORPHA:1106 |
| Weill-Marchesani Syndrome 2 |
|
Hypoplasia of the maxilla |
OMIM:608328 |
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Taurodontia, Hypoplasia of the maxilla |
OMIM:305100 |
| Stickler Syndrome |
|
Hypoplasia of the maxilla, Microretrognathia, Abnormal dental enamel morphology, Micrognathia, Ma... |
ORPHA:828 |
| Pmm2-Cdg |
|
Hypoalbuminemia, Hepatic fibrosis, Aspiration pneumonia, Reduced thyroxin-binding globulin, Prote... |
ORPHA:79318 |
| Holoprosencephaly 9 |
|
Hypoplasia of the maxilla, Hypoplasia of the premaxilla, Dental malocclusion, Malar flattening, A... |
OMIM:610829 |
| Zttk Syndrome |
|
Hypoplasia of the maxilla, Absent gallbladder |
OMIM:617140 |
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
Micrognathia, Retrognathia, Prominence of the premaxilla |
OMIM:614437 |
| Ablepharon Macrostomia Syndrome |
|
Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone |
ORPHA:920 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Hypoplasia of the maxilla, Carious teeth, Malar flattening |
OMIM:604292 |
| Cutis Laxa, Autosomal Recessive, Type Iic |
|
Hypoplasia of the maxilla, Mandibular prognathia, Malar flattening |
OMIM:617402 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Hypoplasia of the maxilla, Carious teeth, Malar flattening |
OMIM:129900 |
| Floating-Harbor Syndrome |
|
Hypoplasia of the maxilla, Carious teeth, Persistence of primary teeth, Broad-based gait |
ORPHA:2044 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Hypoplasia of the maxilla, Hypoplasia of the frontal bone, Aplasia/Hypoplasia of the frontal sinuses |
ORPHA:306542 |
| Singleton-Merten Syndrome 1 |
|
Hypoplasia of the maxilla, Carious teeth, Eruption failure, Hypoplasia of the tooth germ, Cardiom... |
OMIM:182250 |
| Craniosynostosis And Dental Anomalies |
|
Hypoplasia of the maxilla, Dental malocclusion, Delayed eruption of teeth, Supernumerary tooth, M... |
OMIM:614188 |
| Peters-Plus Syndrome |
|
Hypoplasia of the maxilla, Micrognathia, Biliary tract abnormality, Conical incisor, Agenesis of ... |
OMIM:261540 |
| Acrofacial Dysostosis, Cincinnati Type |
|
Aplastic zygomatic arch, Hypoplasia of the maxilla, Micrognathia, Retrognathia |
OMIM:616462 |
| Saethre-Chotzen Syndrome |
|
Hypoplasia of the maxilla, Cleft of chin, Malar flattening |
OMIM:101400 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Proteinuria |
OMIM:616682 |
| Primrose Syndrome |
|
Hypoplasia of the maxilla, Increased size of the mandible, Malar flattening, Ataxia, Elevated cir... |
OMIM:259050 |
| Sponastrime Dysplasia |
|
Decreased circulating antibody level |
ORPHA:93357 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Hypoplasia of the maxilla, Waddling gait |
OMIM:300106 |
| Axenfeld-Rieger Syndrome, Type 1 |
|
Hypoplasia of the maxilla |
OMIM:180500 |
| Craniofacial Microsomia 1 |
|
Hypoplasia of the maxilla, Maxillozygomatic hypoplasia, Micrognathia, Malar flattening |
OMIM:164210 |
| Holoprosencephaly 2 |
|
Aplasia of the premaxilla, Malar flattening |
OMIM:157170 |
