Von Willebrand Disease, X-Linked Form |
|
Prolonged bleeding time, Abnormal bleeding |
OMIM:314560 |
Athrombia, Essential |
|
Prolonged bleeding time, Abnormal bleeding, Impaired platelet aggregation, Impaired platelet adhe... |
OMIM:209050 |
Bleeding Disorder, Platelet-Type, 22 |
|
Excessive bleeding from superficial cuts, Impaired platelet aggregation, Subcutaneous hemorrhage |
OMIM:618462 |
Thrombocytopenia 7 |
|
Impaired arachidonic acid-induced platelet aggregation, Post-partum hemorrhage, Impaired ADP-indu... |
OMIM:619130 |
Tatsumi Factor Deficiency |
|
Prolonged bleeding time, Abnormal bleeding |
OMIM:272650 |
Glanzmann Thrombasthenia 2 |
|
Decreased platelet glycoprotein IIb-IIIa, Prolonged bleeding after surgery, Impaired ADP-induced ... |
OMIM:619267 |
Platelet Aggregation, Spontaneous |
|
Spontaneous platelet aggregation, Abnormal platelet function |
OMIM:173400 |
Bleeding Disorder, Platelet-Type, 18 |
|
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Bru... |
OMIM:615888 |
Platelet Responsiveness To Adrenaline, Depressed |
|
Impaired epinephrine-induced platelet aggregation |
OMIM:173580 |
Platelet Signal Processing Defect |
|
Impaired ADP-induced platelet aggregation, Abnormal bleeding, Impaired epinephrine-induced platel... |
OMIM:173590 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Macrothrombocytopenia, Impaired platelet aggregation |
OMIM:613112 |
Pseudo-Von Willebrand Disease |
|
Prolonged bleeding time, Intermittent thrombocytopenia |
OMIM:177820 |
Bleeding Disorder, Platelet-Type, 24 |
|
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... |
OMIM:619271 |
Bleeding Disorder, Platelet-Type, 11 |
|
Bruising susceptibility, Ecchymosis, Epistaxis, Impaired collagen-induced platelet aggregation, A... |
OMIM:614201 |
Glanzmann Thrombasthenia 1 |
|
Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet aggregation, Purpura, Imp... |
OMIM:273800 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Post-partum hemorrhage, Impaired platelet aggregation, Thrombocytopenia, Menorrhagia, Macrothromb... |
OMIM:124900 |
Thrombocythemia 1 |
|
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Thromb... |
OMIM:187950 |
Platelet Glycoprotein Iv Deficiency |
|
Prolonged bleeding time, Thrombocytopenia, Abnormal bleeding, Giant platelets |
OMIM:608404 |
Immunodeficiency 79 |
|
Decreased proportion of CD4-positive T cells |
OMIM:619238 |
Bleeding Disorder, Platelet-Type, 8 |
|
Impaired ADP-induced platelet aggregation, Abnormal bleeding, Bruising susceptibility, Ecchymosis... |
OMIM:609821 |
Glanzmann Thrombasthenia |
|
Impaired collagen-related peptide-induced platelet aggregation, Impaired arachidonic acid-induced... |
ORPHA:849 |
Platelet Disorder, Undefined |
|
Prolonged bleeding time, Thrombocytopenia, Abnormal bleeding, Impaired platelet aggregation |
OMIM:173420 |
Immunodeficiency 15A |
|
Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of memory B... |
OMIM:618204 |
Bleeding Disorder, Platelet-Type, 13, Susceptibility To |
|
Epistaxis, Impaired thromboxane A2 agonist-induced platelet aggregation, Bruising susceptibility,... |
OMIM:614009 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
T lymphocytopenia, Increased proportion of transitional B cells, Bronchiectasis, Decreased circul... |
OMIM:615513 |
Immunodeficiency 95 |
|
Increased circulating IgG3 level, Respiratory distress, Lymphopenia, Decreased circulating IgG3 l... |
OMIM:619773 |
Bernard-Soulier Syndrome |
|
Prolonged bleeding after surgery, Giant platelets, Abnormal bleeding, Purpura, Epistaxis, Thrombo... |
OMIM:231200 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
Okt4 Epitope Deficiency |
|
Abnormal T cell morphology |
OMIM:613949 |
Bleeding Disorder, Platelet-Type, 16 |
|
Petechiae, Abnormal bleeding, Impaired platelet aggregation, Thrombocytopenia, Giant platelets, P... |
OMIM:187800 |
Immunodeficiency 18 |
|
Lymphopenia, Decreased proportion of CD3-positive T cells |
OMIM:615615 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Thrombocytopenia, Abnormal platelet function, Abnormal bleeding |
ORPHA:231393 |
Bleeding Disorder, Platelet-Type, 14 |
|
Epistaxis, Prolonged bleeding time, Bruising susceptibility, Ecchymosis |
OMIM:614158 |
Immunodeficiency 24 |
|
Respiratory tract infection, Decreased CD4:CD8 ratio, Decreased circulating IgG level, Reduced pr... |
OMIM:615897 |
Von Willebrand Disease, Type 3 |
|
Persistent bleeding after trauma, Abnormal bleeding, Impaired platelet aggregation, Bruising susc... |
OMIM:277480 |
Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells |
OMIM:312863 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Bronchiectasis, Recurrent lower respiratory tract infections, Neutropenia in presence of anti-neu... |
OMIM:619220 |
Immunodeficiency 64 With Lymphoproliferation |
|
Decreased lymphocyte proliferation in response to mitogen, Bronchiectasis, Recurrent lower respir... |
OMIM:618534 |
Immunodeficiency 48 |
|
Failure to thrive, Absence of CD8-positive T cells, Splenomegaly |
OMIM:269840 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Anemia, Increased circulating antibody level, Acute monocytic leukemia, Thrombocytosis, Eosinophi... |
OMIM:202700 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Splenomegaly, Hemolytic anemia, Recurrent respiratory infections, Increased circulating antibody ... |
OMIM:614470 |
Immunodeficiency 105 |
|
Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ... |
OMIM:619924 |
Lymphoma, Hodgkin, Classic |
|
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM |
OMIM:236000 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Impaired ADP-induced platelet aggregation, Abnormal bleeding, Impaired epinephrine-induced platel... |
OMIM:155100 |
Bleeding Disorder, Platelet-Type, 12 |
|
Impaired platelet aggregation, Bruising susceptibility, Epistaxis, Intestinal bleeding, Menorrhag... |
OMIM:605735 |
Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
Wiskott-Aldrich Syndrome 2 |
|
Thrombocytopenia, Decreased proportion of CD8-positive T cells |
OMIM:614493 |
Immunodeficiency 15B |
|
Monocytosis, Failure to thrive, Reduced natural killer cell count |
OMIM:615592 |
Cd8 Deficiency, Familial |
|
Absence of CD8-positive T cells |
OMIM:608957 |
Quebec Platelet Disorder |
|
Impaired epinephrine-induced platelet aggregation, Bruising susceptibility, Epistaxis, Menorrhagi... |
OMIM:601709 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, Neutropenia, B lymphocytopenia |
OMIM:613107 |
Von Willebrand Disease |
|
Abnormality of thrombocytes, Abnormal platelet function |
ORPHA:903 |
Factor V Deficiency |
|
Abnormal bleeding, Bruising susceptibility, Epistaxis, Prolonged prothrombin time, Menorrhagia, P... |
OMIM:227400 |
Immunodeficiency 27A |
|
Anemia, Enlarged mesenteric lymph node, Hepatosplenomegaly, Abnormal bronchus physiology, Lymphad... |
OMIM:209950 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... |
OMIM:153600 |
Specific Granule Deficiency 1 |
|
Absent neutrophil specific granules, Hyposegmentation of neutrophil nuclei, Absent neutrophil lac... |
OMIM:245480 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Anemia, Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia |
OMIM:608898 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Decreased circulating IgE, Decreased circulating IgA leve... |
OMIM:606843 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia |
OMIM:242870 |
Bleeding Disorder, Platelet-Type, 21 |
|
Impaired ADP-induced platelet aggregation, Abnormal bleeding, Impaired platelet aggregation, Meno... |
OMIM:617443 |
Immunodeficiency 19 |
|
Failure to thrive, Abnormal natural killer cell morphology, T lymphocytopenia, Abnormal B cell mo... |
OMIM:615617 |
Immunodeficiency 86 |
|
Impaired oxidative burst, Increased circulating IgM level, Decreased circulating IgG level |
OMIM:619549 |
Hermansky-Pudlak Syndrome 7 |
|
Post-partum hemorrhage, Impaired platelet aggregation, Bruising susceptibility, Epistaxis, Menorr... |
OMIM:614076 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Neutropenia |
OMIM:615214 |
Diamond-Blackfan Anemia 19 |
|
Erythroid hypoplasia, Anemia, Steroid-responsive anemia |
OMIM:618312 |
Gray Platelet Syndrome |
|
Abnormal number of alpha granules, Abnormal bleeding, Bruising susceptibility, Epistaxis, Impaire... |
OMIM:139090 |
Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating total IgM, B lymphocytopenia, Reduced natural killer cell activity, Neutrop... |
OMIM:619281 |
Lymphoproliferative Syndrome 3 |
|
Reduced natural killer cell count, Hepatosplenomegaly |
OMIM:618261 |
Immunodeficiency 57 With Autoinflammation |
|
Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, Perianal abscess, Failur... |
OMIM:618108 |
Autoimmune Lymphoproliferative Syndrome |
|
Chronic noninfectious lymphadenopathy, Splenomegaly, Elevated proportion of CD4-negative, CD8-neg... |
OMIM:601859 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Recurrent respiratory infections, Reduced natural killer cell activity, Decreased circulating ant... |
OMIM:308240 |
Histiocytosis, Familial Lipochrome |
|
Increased circulating antibody level, Increased alpha-globulin, Histiocytosis |
OMIM:235900 |
Immunodeficiency 36 With Lymphoproliferation |
|
Chronic lymphatic leukemia, Increased proportion of transitional B cells, B lymphocytopenia, Bron... |
OMIM:616005 |
Immunodeficiency 20 |
|
Reduced natural killer cell count |
OMIM:615707 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
Immunodeficiency 21 |
|
Reduced natural killer cell count, Anemia, Myeloid leukemia, Monocytopenia, B lymphocytopenia, Ly... |
OMIM:614172 |
Bleeding Disorder, Platelet-Type, 17 |
|
Petechiae, Impaired epinephrine-induced platelet aggregation, Abnormal bleeding, Bruising suscept... |
OMIM:187900 |
Severe Combined Immunodeficiency, X-Linked |
|
Hypoplasia of the thymus, Decreased circulating total IgM, T lymphocytopenia, Reduced natural kil... |
OMIM:300400 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Abnormal alpha granule content, Impaired platelet aggregation, Bruising susceptibility, Epistaxis... |
OMIM:601399 |
Diamond-Blackfan Anemia-Like |
|
Pure red cell aplasia, Steroid-responsive anemia |
OMIM:617911 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Hypereosinophilia, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cell... |
OMIM:212050 |
Moyamoya Disease With Early-Onset Achalasia |
|
Thrombocytopenia, Abnormal platelet aggregation |
ORPHA:401945 |
Epilepsy With Bilateral Occipital Calcifications |
|
Celiac disease |
OMIM:226810 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Bloody diarrhea, Anemia, Ulcerative colitis, Elevated circulating C-reactive protein concentratio... |
OMIM:619398 |
Inflammatory Bowel Disease 29 |
|
Crohn's disease, Ulcerative colitis |
OMIM:618077 |
Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Hypoplasia of the thymus, Decreased proportion of CD4-positive helper T cells, Decreased proporti... |
OMIM:617241 |
Caspase 8 Deficiency |
|
Decreased CD4:CD8 ratio, Decreased T cell activation, Decreased circulating total IgM, Short stat... |
OMIM:607271 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Pancytopenia, Cutaneous anergy, Decreased helper T cell proportion, Splenomegaly |
OMIM:183350 |
Thrombophilia Due To Thrombomodulin Defect |
|
Pulmonary embolism |
OMIM:614486 |
Immunodeficiency 62 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, Decreased cir... |
OMIM:618459 |
Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Decreased circulating antibody level, Bronchiectasis... |
OMIM:617514 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Impaired neutrophil killing of staphylococci |
OMIM:233670 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Leukopenia, Acute myeloid leukemia, Bone marrow hypocellularity, Refractory anemia, Monocytosis |
OMIM:616871 |
Immunodeficiency 25 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, T lymphocytop... |
OMIM:610163 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased B cell count, Increased proportion of memory T cells, Bronchiectasis, Hepatosplenomegal... |
OMIM:618982 |
Immunodeficiency 51 |
|
Recurrent cutaneous fungal infections, Chronic oral candidiasis, Recurrent respiratory infections... |
OMIM:613953 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Anemia, Abnormal pulmonary interstitial morphology, Abnormal natural killer cell physiology, Decr... |
OMIM:613101 |
Prothrombin Deficiency, Congenital |
|
Bruising susceptibility, Ecchymosis, Epistaxis, Gingival bleeding, Menorrhagia, Gastrointestinal ... |
OMIM:613679 |
Immunodeficiency, Common Variable, 11 |
|
Crohn's disease, Increased circulating IgE level, Inflammation of the large intestine, Decreased ... |
OMIM:615767 |
Immunodeficiency 8 With Lymphoproliferation |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, Lymphopenia, ... |
OMIM:615401 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Anemia, Hypertriglyceridemia, Abnormal pulmonary interstitial morphology,... |
OMIM:607616 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Abnormally low T cell receptor excision circle level, Failure to thrive in infancy, B lymphocytop... |
OMIM:618987 |
Immunodeficiency 102 |
|
Leukopenia, Anemia, Reduced natural killer cell count, B lymphocytopenia, Neutropenia in presence... |
OMIM:301082 |
Immunodeficiency 85 And Autoimmunity |
|
Reduced natural killer cell count, T lymphocytopenia, Lymphopenia, Decreased proportion of memory... |
OMIM:619510 |
Storage Pool Platelet Disease |
|
Prolonged bleeding time, Decreased mean platelet volume, Abnormal bleeding |
OMIM:185050 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Abnormal circulating IgG level, Complete or near-complete absence of specific antibody response t... |
ORPHA:70593 |
Von Willebrand Disease, Type 1 |
|
Persistent bleeding after trauma, Impaired platelet aggregation, Bruising susceptibility, Epistax... |
OMIM:193400 |
Thrombophilia, X-Linked, Due To Factor Viii Defect |
|
Pulmonary embolism |
OMIM:301071 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
T lymphocytopenia, Abnormally low T cell receptor excision circle level |
OMIM:618806 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
Eiken Syndrome |
|
Short phalanx of finger, Thin bony cortex, Short toe, Metaphyseal irregularity, Abnormal bone oss... |
ORPHA:79106 |
Hermansky-Pudlak Syndrome 3 |
|
Abnormal number of dense granules, Spontaneous, recurrent epistaxis, Abnormal bleeding, Impaired ... |
OMIM:614072 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Anemia, Increased circulating antibody level, Enlarged kidney, Hepatomegaly, Extramed... |
OMIM:615285 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Increased circulating antibody level, Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Pn... |
OMIM:247800 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Chronic noninfectious lymphadenopathy, Increased B cell count, Splenomegaly, Elevated proportion ... |
OMIM:603909 |
Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Decreased circulating antibody level, Lymphopenia, ... |
ORPHA:169079 |
Ciliary Dyskinesia, Primary, 44 |
|
Bronchiectasis, Reduced forced vital capacity, Recurrent sinusitis, Otitis media, Neonatal respir... |
OMIM:618781 |
Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
Thrombocytopenia, Paris-Trousseau Type |
|
Prolonged bleeding time, Thrombocytopenia, Abnormal bleeding |
OMIM:188025 |
Fetal Cytomegalovirus Syndrome |
|
Anemia, Splenomegaly, Hepatomegaly |
ORPHA:294 |
Thrombophilia Due To Thrombin Defect |
|
Pulmonary embolism |
OMIM:188050 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Restrictive cardiomyopathy, Hypoplasia of the thymus, T lympho... |
OMIM:619313 |
Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
Neutrophilia, Hereditary |
|
Neutrophilia, Splenomegaly |
OMIM:162830 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, Impaired Ig c... |
OMIM:605258 |
Immunodeficiency 11 |
|
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibo... |
OMIM:615206 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Impaired collagen-related peptide-induced platelet aggregation, Petechiae, Impaired ADP-induced p... |
OMIM:153670 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Sclerosing cholangitis, Hepatomegaly, Absence of lymph node germinal center, Thrombocytopenia, Im... |
OMIM:308230 |
Schnitzler Syndrome |
|
Anemia, Lymphadenopathy, Leukocytosis, Increased circulating IgM level, Hepatomegaly, Splenomegaly |
ORPHA:37748 |
Immunodeficiency 81 |
|
Reduced natural killer cell activity, Impaired neutrophil chemotaxis, Reduced antigen-specific T ... |
OMIM:619374 |
Thrombocytopenia 2 |
|
Thrombocytopenia, Leukocytosis |
OMIM:188000 |
Antithrombin Iii Deficiency |
|
Pulmonary embolism, Arterial occlusion |
OMIM:613118 |
Osteochondrosis Of The Metatarsal Bone |
|
Pedal edema, Abnormality of the fifth metatarsal bone, Flattened metatarsal heads, Sclerosis of f... |
ORPHA:564003 |
Immunoerythromyeloid Hypoplasia |
|
Erythroid hypoplasia, Decreased circulating IgG level |
OMIM:242880 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Decreased circulating total IgM, Splenomegaly, Hepatomegaly |
OMIM:606445 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Absen... |
OMIM:619846 |
Immunodeficiency 32B |
|
Abnormal circulating IgG level, Anemia, Monocytopenia, Bronchiectasis, Recurrent respiratory infe... |
OMIM:226990 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
Bronchiectasis With Or Without Elevated Sweat Chloride 3 |
|
Chronic bronchitis, Bronchiectasis |
OMIM:613071 |
Bronchiectasis With Or Without Elevated Sweat Chloride 2 |
|
Chronic bronchitis, Bronchiectasis |
OMIM:613021 |
Bronchiectasis With Or Without Elevated Sweat Chloride 1 |
|
Chronic bronchitis, Bronchiectasis |
OMIM:211400 |
Immunodeficiency 50 |
|
Neutropenia, Recurrent respiratory infections, Lymphopenia, Decreased circulating antibody level |
OMIM:300988 |
Immunodeficiency 76 |
|
Lymphopenia, Splenomegaly, T lymphocytopenia, B lymphocytopenia |
OMIM:619164 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells |
OMIM:611926 |
Autoinflammation With Infantile Enterocolitis |
|
Reduced natural killer cell count, Anemia, Pancytopenia, Diffuse alveolar hemorrhage, Failure to ... |
OMIM:616050 |
Adult Idiopathic Neutropenia |
|
Monocytopenia, Lymphopenia, Abnormal neutrophil count, Increased circulating IgM level, Monocytos... |
ORPHA:2688 |
Immunodeficiency 84 |
|
Splenomegaly, Perianal abscess, B lymphocytopenia |
OMIM:619437 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Chronic bronchitis, T lymphocytopenia, Bronchiectasis, Impaired neutrophil chemotaxis, Generalize... |
OMIM:618986 |
Immunodeficiency 91 And Hyperinflammation |
|
Abnormal pulmonary interstitial morphology, Pulmonary hemorrhage, Neutrophilia, Hepatosplenomegal... |
OMIM:619644 |
Eosinophilia, Familial |
|
Anemia, Recurrent bronchitis, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
Mast Cell Sarcoma |
|
Weight loss, Mastocytosis, Lymphadenopathy, Mediastinal lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:66661 |
Immunodeficiency 54 |
|
Failure to thrive, Reduced natural killer cell count, Splenomegaly |
OMIM:609981 |
Immunodeficiency 97 With Autoinflammation |
|
Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ... |
OMIM:619802 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating total IgM, Recurrent respiratory infections, Recurrent sinusitis, Absent ci... |
OMIM:619707 |
Indolent Systemic Mastocytosis |
|
Mastocytosis, Osteoporosis, Increased proportion of CD25+ mast cells, Abnormal mast cell morpholo... |
ORPHA:98848 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Petechiae, Bruising susceptibility, Epistaxis, Prolonged bleeding time, Thrombocytopenia, Increas... |
OMIM:314050 |
Thrombocytopenic Purpura, Autoimmune |
|
Thrombocytopenia |
OMIM:188030 |
Mucus Inspissation Of Respiratory Tract |
|
Bronchiectasis, Chronic pulmonary obstruction, Chronic sinusitis, Recurrent respiratory infection... |
OMIM:253240 |
Lactose Intolerance, Adult Type |
|
Flatulence, Diarrhea, Abdominal pain, Lactose intolerance, Decreased small intestinal mucosa lact... |
OMIM:223100 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Anemia, Decreased circulating total IgM, B lymphocytopenia, Decreased proportion of CD8-positive,... |
OMIM:619824 |
Slc35A1-Cdg |
|
Pulmonary hemorrhage, Subcutaneous hemorrhage, Abnormal bleeding, Abnormal platelet granules, Gia... |
ORPHA:238459 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Failure to thrive, Abnormal T cell morphology, Neutropenia, Absent circulating B cells |
OMIM:613501 |
Transcobalamin Deficiency |
|
Decreased circulating total IgM, Decreased circulating antibody level, Lymphopenia, Pancytopenia,... |
ORPHA:859 |
Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 22 concentration, Bronchiectasis, Reduced circulating interleukin... |
OMIM:619632 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... |
OMIM:616452 |
Immunodeficiency 104 |
|
Splenomegaly, T lymphocytopenia, Failure to thrive secondary to recurrent infections |
OMIM:608971 |
Heparin-Induced Thrombocytopenia |
|
Pulmonary embolism, Cerebral ischemia, Abnormal onset of bleeding, Myocardial infarction, Increas... |
ORPHA:3325 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Abnormal T cell morphology, Decreased circulating total IgM, Recurrent respiratory infections, Ab... |
OMIM:613500 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
T lymphocytopenia, Lymphocytosis, Decreased proportion of CD3-positive T cells, Decreased proport... |
ORPHA:169154 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Recurrent bronchopulmonary infections, Neutropenia, Decreased circulating total IgM, Short stature |
OMIM:610798 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Lymphocytic ... |
OMIM:618495 |
Hemophilia B |
|
Spontaneous, recurrent epistaxis, Intracranial hemorrhage, Delayed onset bleeding, Cephalohematom... |
ORPHA:98879 |
Immunodeficiency, Common Variable, 1 |
|
Decreased circulating total IgM, B lymphocytopenia, Bronchiectasis, Neutropenia in presence of an... |
OMIM:607594 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Abnormal T cell morphology, Decreased circulating total IgM, Chronic sinusitis, Recurrent otitis ... |
OMIM:613502 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Anemia, Elevated transferrin saturation, Sideroblastic anemia, Decreased mean corpuscular volume,... |
OMIM:205950 |
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Increased circulating interleukin 6 concentration, Decreased circulating total IgM, Cutaneous abs... |
OMIM:618944 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Recurrent upper and lower respiratory tract infections, L... |
OMIM:608106 |
Reticular Dysgenesis |
|
Leukopenia, Hypoplasia of the thymus, Lack of T cell function, Lymphopenia, Impaired T cell funct... |
OMIM:267500 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Crohn's disease, Enterocolitis, Perianal abscess, Folliculitis, Pyoderma, Colitis, Hematochezia |
OMIM:613148 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased CD4:CD8 ratio, Decreased T cell activation, Bronchiectasis, Recurrent respiratory infec... |
OMIM:300853 |
Bone Marrow Failure Syndrome 4 |
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Leukopenia, Anemia, Rhizomelia, Short stature, Decreased circulating antibody level, Bone marrow ... |
OMIM:618116 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Failure to thrive, T lymphocytopenia, B lymphocytopenia, Failure to thrive secondary to recurrent... |
OMIM:601457 |
Ciliary Dyskinesia, Primary, 21 |
|
Decreased nasal nitric oxide, Bronchiectasis, Chronic sinusitis, Recurrent otitis media, Recurren... |
OMIM:615294 |
Diamond-Blackfan Anemia 17 |
|
Anemia |
OMIM:617409 |
Lymphoproliferative Syndrome 1 |
|
Leukopenia, Anemia, Decreased circulating antibody level, Pancytopenia, Autoimmune thrombocytopen... |
OMIM:613011 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased B cell count, Absent isohemagglutinin level, Reduced natural killer cell activity, Incr... |
OMIM:615559 |
Acrocapitofemoral Dysplasia |
|
Short tibia, Flared iliac wing, Short proximal phalanx of finger, Short femur, Enlargement of the... |
OMIM:607778 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin |
ORPHA:231249 |
Ghosal Hematodiaphyseal Dysplasia |
|
Anemia, Craniofacial hyperostosis, Abnormal cortical bone morphology, Abnormal pelvic girdle bone... |
ORPHA:1802 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:2274 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
B lymphocytopenia |
OMIM:616941 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Bloody diarrhea, Vomiting, Pancolitis, Abdominal pain, Ileitis, Abnormal intestine morphology, Ga... |
OMIM:619079 |
Aplasia Cutis Congenita |
|
Prolonged bleeding time |
ORPHA:1114 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Vomiting, Diarrhea, Villous atrophy, Abdominal colic, Hyperlipidemia, Hypercholesterolemia, Prote... |
OMIM:615863 |
Boutonneuse Fever |
|
Leukopenia, Lymphadenopathy, Increased circulating IgM level, Cervical lymphadenopathy, Respirato... |
ORPHA:83313 |
Refractory Anemia |
|
Neutropenia, Normocytic anemia, Erythroid hypoplasia, Dyspnea, Bone marrow hypocellularity, Macro... |
ORPHA:98826 |
Hermansky-Pudlak Syndrome 9 |
|
Thrombocytopenia, Abnormal platelet aggregation |
OMIM:614171 |
Immunodeficiency, Common Variable, 3 |
|
Chronic decreased circulating total IgG, Decreased circulating total IgM, Reduced isohemagglutini... |
OMIM:613493 |
Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Neutropenia |
OMIM:162700 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Epiphyseal stippling, Short humerus, Rhizomelia, Short femur |
OMIM:600121 |
Ciliary Dyskinesia, Primary, 42 |
|
Respiratory insufficiency, Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Chr... |
OMIM:618695 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
T lymphocytopenia, B lymphocytopenia, Lack of T cell function, Lymphopenia, Recurrent pneumonia, ... |
ORPHA:277 |
Immunodeficiency 13 |
|
Decreased CD4:CD8 ratio, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Decreased proportion ... |
OMIM:615518 |
Mu-Heavy Chain Disease |
|
Anemia, Weight loss, Increased circulating antibody level, Abnormal B cell count, Lymphadenopathy... |
ORPHA:100024 |
Young Syndrome |
|
Recurrent bronchitis, Recurrent sinopulmonary infections, Bronchiectasis, Congenital pulmonary ai... |
OMIM:279000 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Respiratory tract infection, Bronchiectasis, Hypoxemia, Reduced forced vital capacity, Reduced FE... |
ORPHA:1303 |
Immunodeficiency 17 |
|
T lymphocytopenia, Abnormal B cell morphology, Decreased proportion of CD8-positive T cells, Auto... |
OMIM:615607 |
Immunodeficiency 43 |
|
Reduced natural killer cell count, Lung abscess, B lymphocytopenia |
OMIM:241600 |
Immunodeficiency 110 With Lymphoproliferation |
|
Neutropenia, Lymphopenia |
OMIM:614868 |
Immunodeficiency 68 |
|
Abnormal natural killer cell count, Abscess, T lymphocytopenia, B lymphocytopenia |
OMIM:612260 |
Multicentric Reticulohistiocytosis |
|
Cachexia, Histiocytosis |
ORPHA:139436 |
Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Abnormal T cell morphology, Decreased circulating total IgM, B lymphocytopenia, Recurrent bronchi... |
OMIM:612692 |
Hermansky-Pudlak Syndrome 5 |
|
Impaired ADP-induced platelet aggregation, Bruising susceptibility, Absent platelet dense granule... |
OMIM:614074 |
Idiopathic Acute Eosinophilic Pneumonia |
|
Abnormal pleura morphology, Abnormal eosinophil morphology |
ORPHA:724 |
Acute Myelomonocytic Leukemia |
|
Anemia, Dyspnea, Leukocytosis, Eosinophilia, Thrombocytopenia |
ORPHA:517 |
Fibular Hemimelia |
|
Short tibia, Hip subluxation, Limited knee flexion/extension, Hypoplastic acetabulae, Toe syndact... |
ORPHA:93323 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Recurrent aphthous stomatitis, Crohn's disease, Diarrhea, Abdominal pain, Ulcerative colitis, Inf... |
OMIM:266600 |
Monocyte Chemotactic Disorder |
|
Cutaneous anergy |
OMIM:252250 |
Reticuloendotheliosis, X-Linked |
|
Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly |
OMIM:312500 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Reduced natural killer cell count, Cerebral vasculitis, Eosinophilia, Decreased proportion of CD4... |
OMIM:243700 |
Immunodeficiency 60 And Autoimmunity |
|
Decreased basophil count, Crohn's disease, Decreased circulating total IgM, Bronchiectasis, Ulcer... |
OMIM:618394 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Reduced natural killer cell count, Decreased proportion of CD4-positive helper T cells, Lymphopen... |
ORPHA:276 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Failure to thrive, Reduced natural killer cell count, T lymphocytopenia |
OMIM:242860 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Respiratory tract infection, Hemolytic anemia, Hepatitis, Lymphopenia, Autoimmune thrombocytopeni... |
ORPHA:444463 |
Dysplastic Cortical Hyperostosis |
|
Polyhydramnios, Hydrops fetalis, Abnormality of neuronal migration, Aplasia/Hypoplasia of the lun... |
ORPHA:2204 |
Pneumocystosis |
|
Respiratory insufficiency, Exertional dyspnea, Increased circulating antibody level, Interstitial... |
ORPHA:723 |
Caffey Disease |
|
Increased circulating antibody level, Cortical thickening of long bone diaphyses, Cortical irregu... |
ORPHA:1310 |
Hemoglobin D Disease |
|
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... |
ORPHA:90039 |
Immunodeficiency 44 |
|
Abnormal circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM,... |
OMIM:616636 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Acute lymphoblastic leukemia, ... |
ORPHA:158057 |
Ciliary Dyskinesia, Primary, 9 |
|
Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Chronic sinusitis, Recurrent o... |
OMIM:612444 |
Aggressive Systemic Mastocytosis |
|
Anemia, Neutropenia, Leukemia, Hypersplenism, Pancytopenia, Hepatosplenomegaly, Osteolysis, Incre... |
ORPHA:98850 |
X-Linked Lymphoproliferative Disease |
|
T lymphocytopenia, Hepatosplenomegaly, Increased T cell count, Bone marrow hypocellularity, Cervi... |
ORPHA:2442 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
T lymphocytopenia, Lymphopenia, Impaired lymphocyte transformation with phytohemagglutinin, Failu... |
OMIM:600802 |
Bernard-Soulier Syndrome |
|
Decreased platelet glycoprotein Ib-IX-V, Prolonged bleeding after surgery, Petechiae, Spontaneous... |
ORPHA:274 |
Hereditary Progressive Mucinous Histiocytosis |
|
Lymphadenopathy, Mucinous histiocytosis |
ORPHA:158025 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Short tibia, Absent ossification of thoracic vertebral bodies, Hypoplasia of the radius, Lytic de... |
OMIM:601376 |
Mounier-Kühn Syndrome |
|
Bronchitis, Recurrent bronchopulmonary infections, Pneumonia, Recurrent respiratory infections |
ORPHA:3347 |
Hermansky-Pudlak Syndrome 6 |
|
Impaired ADP-induced platelet aggregation, Abnormal bleeding, Bruising susceptibility, Ecchymosis... |
OMIM:614075 |
Ciliary Dyskinesia, Primary, 33 |
|
Bronchiectasis, Recurrent bronchitis, Recurrent otitis media, Chronic rhinitis, Recurrent pneumon... |
OMIM:616726 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Acute lymphoblastic leukemia, Recurrent sinopulmonary infections, Lymphop... |
ORPHA:486 |
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia |
|
Anemia, Intrauterine growth retardation |
ORPHA:2802 |
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant |
|
Pulmonary embolism |
OMIM:176860 |
Eosinophil Peroxidase Deficiency |
|
Eosinophil nuclear hypersegmentation |
OMIM:261500 |
Ciliary Dyskinesia, Primary, 23 |
|
Chronic bronchitis, Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance,... |
OMIM:615451 |
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Nodular regenerative hyperplasia of liver, Abnormal pleura morphology, Abnormal breath sound, Hep... |
ORPHA:210136 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Failure to thrive, Neutropenia, Recurrent respiratory infections |
OMIM:616022 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Thin bony cortex, Generalized bone demineralization, Genu valgum, Metaphyseal irregularity, Genu ... |
OMIM:600785 |
Malaria |
|
Anemia, Hyperbilirubinemia, Respiratory distress, Elevated circulating C-reactive protein concent... |
ORPHA:673 |
Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly, Weight loss |
ORPHA:52416 |
Leishmaniasis |
|
Leukopenia, Anemia, Rhinitis, Abnormal macrophage morphology, Increased circulating antibody leve... |
ORPHA:507 |
Bone Marrow Failure Syndrome 2 |
|
Leukopenia, Anemia, Thrombocytopenia, Bone marrow hypocellularity |
OMIM:615715 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Lymphadenitis, Abnormal natural killer cell count, Decreased circulating total IgM, Decreased lym... |
ORPHA:331206 |
Alpha-Heavy Chain Disease |
|
Anemia, Malabsorption, Abdominal pain, Dysgammaglobulinemia, Abnormal small intestine morphology,... |
ORPHA:100025 |
Immunodeficiency 46 |
|
Anemia, Decreased circulating antibody level, Recurrent sinopulmonary infections, Neutropenia, In... |
OMIM:616740 |
Atypical Hemolytic Uremic Syndrome |
|
Decreased circulating complement factor B concentration, Abnormality of complement system, Microa... |
ORPHA:2134 |
Immunodeficiency 75 With Lymphoproliferation |
|
Lymphadenopathy, Follicular hyperplasia, Decreased proportion of class-switched memory B cells, H... |
OMIM:619126 |
Eosinophilic Gastroenteritis |
|
Anemia, Vomiting, Diarrhea, Abnormality of the gastrointestinal tract, Malabsorption, Allergic rh... |
ORPHA:2070 |
Trimethylaminuria |
|
Anemia, Hypertension, Tachycardia, Neutropenia, Splenomegaly |
OMIM:602079 |
Diarrhea 6 |
|
Abdominal pain, Crohn's disease, Chronic diarrhea |
OMIM:614616 |
Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia |
OMIM:618310 |
Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Anemia, Hypertriglyceridemia, Jaundice, Lymphadenopathy, Increased circulating ferritin concentra... |
OMIM:603552 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Respiratory insufficiency, Intraalveolar phospholipid accumulation, Decreased circulating antibod... |
OMIM:618042 |
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
Reduced natural killer cell count, Neutropenia, Cutaneous abscess, Lymphopenia |
OMIM:619752 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, B lymphocytopenia, Lymphadenopathy, Increased circulating IgA level, Dec... |
OMIM:618048 |
Bleeding Disorder, Platelet-Type, 19 |
|
Epistaxis, Anemia, Thrombocytopenia, Macrothrombocytopenia |
OMIM:616176 |
Melorheostosis With Osteopoikilosis |
|
Complete duplication of the distal phalanges of the hand, Abnormal cortical bone morphology, Oste... |
ORPHA:1879 |
Myh9-Related Disease |
|
Spontaneous, recurrent epistaxis, Bruising susceptibility, Menorrhagia, Giant platelets, Prolonge... |
ORPHA:182050 |
Hyperostosis Corticalis Generalisata |
|
Cranial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis, Diaphyseal t... |
ORPHA:3416 |
Angioosteohypotrophic Syndrome |
|
Thin bony cortex, Upper limb undergrowth, Abnormal trabecular bone morphology, Hypoplasia of the ... |
ORPHA:75508 |
Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Abnormal macrophage morphology, Decreased circulating antibody lev... |
ORPHA:2585 |
Ciliary Dyskinesia, Primary, 46 |
|
Bronchiectasis, Reduced forced vital capacity, Recurrent sinusitis, Recurrent otitis media, Recur... |
OMIM:619436 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Crohn's disease, Diarrhea, Bronchiectasis, Decreased circulating total IgM, D... |
OMIM:616100 |
Jessner Lymphocytic Infiltration Of The Skin |
|
Abnormal lymphocyte morphology |
ORPHA:33314 |
Autoinflammatory Disease, Familial, Behcet-Like 3 |
|
Ileitis |
OMIM:618287 |
Amegakaryocytic Thrombocytopenia, Congenital |
|
Amegakaryocytic thrombocytopenia, Thrombocytopenia, Pancytopenia |
OMIM:604498 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Vomiting, Chronic diarrhea, Malabsorption, Abdominal pain, Abdominal distention, Dyspepsia, Nause... |
ORPHA:103907 |
Immunodeficiency 70 |
|
Decreased circulating total IgM, B lymphocytopenia, Decreased circulating antibody level, Recurre... |
OMIM:618969 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Autoi... |
ORPHA:231154 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Increased CD4:CD8 ratio, Minimal change glomerulonephritis, Impaired lymphocyte transformation wi... |
OMIM:617006 |
Ciliary Dyskinesia, Primary, 39 |
|
Decreased nasal nitric oxide, Bronchiectasis, Recurrent otitis media, Rhinorrhea, Cough, Chronic ... |
OMIM:618254 |
Allergic Bronchopulmonary Aspergillosis |
|
Bronchiectasis, Abnormal eosinophil morphology, Weight loss, Emphysema |
ORPHA:1164 |
Sclerosteosis |
|
Finger syndactyly, 2-3 finger syndactyly, Increased bone mineral density, Curved distal phalanges... |
ORPHA:3152 |
Acquired Idiopathic Sideroblastic Anemia |
|
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Normocytic anemia, Eryt... |
ORPHA:75564 |
Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia |
OMIM:616873 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Hypereosinophilia, Asthma, Hypoxemia, Pleural effusion, Crackles, Nonproductive cough, Restrictiv... |
ORPHA:2902 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity, Pancytopenia |
OMIM:620133 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
Anemia, Sideroblastic, 5 |
|
Anemia, Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Neutropenia |
OMIM:619523 |
Ciliary Dyskinesia, Primary, 3 |
|
Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Recurrent otitis media, Neonat... |
OMIM:608644 |
Acute Interstitial Pneumonia |
|
Reduced hematocrit, Nodular pattern on pulmonary HRCT, Bronchiectasis, Subpleural honeycombing, H... |
ORPHA:79126 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin, Short stature |
ORPHA:3319 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Inflammation of the large intestine, Elevated fecal sodium, Secretory diarrhea, Abdominal distention |
OMIM:616868 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Anemia, Splenomegaly, Erythroid hyperplasia, Hepatomegaly, Thrombocytopen... |
OMIM:133180 |
Hemoglobin H Disease |
|
Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hepatomegaly, Splenomegaly |
OMIM:613978 |
Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Splenomegaly, Eosinophilia, Myeloproliferative disorder |
OMIM:607685 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Abnormal pleura morphology, Lymphopenia, Eosinophilia |
ORPHA:2582 |
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies |
|
Respiratory insufficiency, Respiratory failure |
OMIM:208081 |
Ciliary Dyskinesia, Primary, 29 |
|
Decreased nasal nitric oxide, Bronchiectasis, Recurrent respiratory infections, Ciliary dyskinesi... |
OMIM:615872 |
Blue Rubber Bleb Nevus |
|
Prolonged bleeding time, Intestinal bleeding |
ORPHA:1059 |
Ciliary Dyskinesia, Primary, 27 |
|
Rhinitis, Decreased nasal nitric oxide, Chronic bronchitis, Bronchiectasis, Respiratory insuffici... |
OMIM:615504 |
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, HbH hemoglobin, Dyspnea, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic ... |
ORPHA:231401 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Lymphocytosis, Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopenia, Hepatos... |
ORPHA:911 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Chronic bronchitis, Decreased circulating total IgM, B lymphocytopenia, Decreased circulating ant... |
OMIM:614069 |
Neutropenia, Severe Congenital, X-Linked |
|
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia |
OMIM:300299 |
Jejunal Atresia |
|
Jejunal atresia |
OMIM:243600 |
Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis, Clavicu... |
ORPHA:2790 |
Immunodeficiency 88 |
|
Eosinophilia |
OMIM:619630 |
Tularemia |
|
Anemia, Brain abscess, Increased circulating antibody level, Cutaneous abscess, Abnormal nasophar... |
ORPHA:3392 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Cholelithiasis, Spontaneous hemolytic crises, Jaundice, Cholecystitis, Impaired neutrophil bacter... |
OMIM:613470 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
B lymphocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy, Hemophagocytosis, Bone marrow hy... |
OMIM:301078 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
Idiopathic Achalasia |
|
Bronchitis, Cough, Wheezing, Recurrent aspiration pneumonia |
ORPHA:930 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Cough, Neonatal respiratory di... |
OMIM:300991 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Hepatomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Crohn's disease, Decreased circulating total IgM, Bronchiectasis, B lymphocytopenia, Absent circu... |
OMIM:619705 |
Bronchopulmonary Dysplasia |
|
Tracheobronchomalacia, Hyperoxemia, Pulmonary sequestration, Abnormal respiratory system physiolo... |
ORPHA:70589 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Folliculitis, Hepatitis, Erythema nodosum, Decreased circulating antibody level, Pancytopenia, In... |
OMIM:300635 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Bronchiectasis, Decreased circulating antibody level, Chronic pulmonary obstruction, Recurrent si... |
OMIM:616576 |
Idiopathic Bronchiectasis |
|
Respiratory tract infection, Bronchiectasis, Productive cough, Abnormal respiratory system physio... |
ORPHA:60033 |
Diffuse Alveolar Hemorrhage |
|
Anemia, Decreased circulating complement C3 concentration, Hypoxemia, Decreased circulating compl... |
ORPHA:90060 |
Pulmonary Hemosiderosis |
|
Iron deficiency anemia, Respiratory insufficiency, Pulmonary fibrosis, Recurrent intrapulmonary h... |
OMIM:178550 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Hepatosplenomegaly, Impaired lymphocyte transf... |
ORPHA:35078 |
Multiple Intestinal Atresia |
|
Gastrointestinal atresia, Duodenal stenosis |
ORPHA:2300 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Foot acroosteolysis, Abnormality of the knee, Tapered finger, Abnormality of the ankle, Abnormal ... |
ORPHA:970 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Absence of lymph node germinal center, Abnormality of the liver, Decreased circulating IgG level |
OMIM:235550 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Respiratory failure, Recurrent respiratory infections, Lymphadenopathy, Abnormal neutrophil count... |
ORPHA:3226 |
Ciliary Dyskinesia, Primary, 41 |
|
Recurrent otitis media, Impaired nasal mucociliary clearance, Recurrent sinusitis, Bronchiectasis |
OMIM:618449 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
B lymphocytopenia, Abnormal CD4:CD8 ratio, Neutropenia, Intermittent thrombocytopenia, Splenomega... |
OMIM:150550 |
Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
Hermansky-Pudlak Syndrome 11 |
|
Bruising susceptibility, Epistaxis, Gingival bleeding, Menorrhagia, Reduced platelet dense granul... |
OMIM:619172 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Polyhydramnios, Flexion contracture, Fractured radius, Hydrops fetalis, Short ribs, Micrognathia,... |
OMIM:616897 |
Inflammatory Bowel Disease 13 |
|
Inflammation of the large intestine |
OMIM:612244 |
Inflammatory Bowel Disease (Crohn Disease) 19 |
|
Inflammation of the large intestine |
OMIM:612278 |
Factor V Excess With Spontaneous Thrombosis |
|
Pulmonary embolism |
OMIM:134400 |
Immunodeficiency, Common Variable, 14 |
|
Decreased circulating total IgM, Recurrent sinusitis, Defective B cell differentiation, Decreased... |
OMIM:617765 |
Pgm3-Cdg |
|
Leukopenia, Reduced natural killer cell count, T lymphocytopenia, Hemolytic anemia, Abnormal prop... |
ORPHA:443811 |
Immunodeficiency 37 |
|
Infectious encephalitis, Decreased proportion of central memory CD4-positive, alpha-beta T cells,... |
OMIM:616098 |
Immunodeficiency, Common Variable, 7 |
|
Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Decreased circulating tot... |
OMIM:614699 |
Tracheobronchomegaly |
|
Recurrent bronchopulmonary infections, Bronchiectasis |
OMIM:275300 |
X-Linked Severe Congenital Neutropenia |
|
Neutropenia, Monocytopenia |
ORPHA:86788 |
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia |
|
Micrognathia, Clinodactyly of the 5th finger, Joint contracture of the 5th finger, Short foot, Cu... |
OMIM:248910 |
Carcinoma Of Esophagus |
|
Gastroesophageal reflux, Esophageal neoplasm, Abnormal intestine morphology, Dysphagia, Barrett e... |
ORPHA:70482 |
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy |
|
Increased circulating beta-2-microglobulin level, Cryoglobulinemia, Monoclonal immunoglobulin M p... |
ORPHA:209004 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Increased mean corpusc... |
OMIM:619041 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Respiratory insufficiency, Reduced maximal inspiratory pressure, Abnormal respiratory system phys... |
ORPHA:266 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Respiratory insufficiency, Apnea, Respiratory failure, Elevated circulating creatine kinase conce... |
OMIM:613869 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
T lymphocytopenia, B lymphocytopenia, Recurrent respiratory infections, Asthma, Recurrent sinusit... |
ORPHA:217390 |
Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia, Abnormality of the liver, Intrauterine growth retardation, Hepatomegaly |
ORPHA:1980 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Impaired neutrophil chemotaxis, Neutrophilia, Abnormally low T cell receptor excision circle leve... |
OMIM:608203 |
Immunoglobulin A Deficiency 2 |
|
Abnormal lymphocyte morphology |
OMIM:609529 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Recurrent respiratory infections, Severe short stature, Neutrope... |
ORPHA:2643 |
Progressive Multifocal Leukoencephalopathy |
|
Abnormal proportion of CD4-positive T cells, Decreased proportion of CD8-positive T cells |
ORPHA:217260 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Lymphadenopathy, Increased circulating IgA level, Leukocytosis, Increased circulati... |
OMIM:617099 |
Staphylococcal Necrotizing Pneumonia |
|
Leukopenia, Pneumothorax, Pleural empyema, Neutrophilia, Hypoxemia, Respiratory distress, Tachypn... |
ORPHA:36238 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Decreased circulating total IgM, Bronchiectasis, Ulcerative colitis, Colonic eosinophilia, Eosino... |
OMIM:617638 |
Muscular Hypertonia, Lethal |
|
Pneumonia, Respiratory distress |
OMIM:254120 |
Immunodeficiency 23 |
|
Hemolytic anemia, Bronchiectasis, Allergic rhinitis, Asthma, Recurrent respiratory infections, Ly... |
OMIM:615816 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Panhypogammaglobulinemia, B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally... |
OMIM:602450 |
Renal Hypodysplasia/Aplasia 4 |
|
Respiratory failure, Pulmonary hypoplasia |
OMIM:619887 |
Gnathodiaphyseal Dysplasia |
|
Recurrent fractures, Thickened cortex of long bones, Mandibular osteomyelitis, Osteopenia, Bowing... |
ORPHA:53697 |
Asbestos Intoxication |
|
Abnormal pulmonary interstitial morphology, Exertional dyspnea, Late inspiratory crackles, Subple... |
ORPHA:2302 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Knee flexion contracture, Sterile abscess, Arthritis, Elbow flexion contracture, Sterile arthriti... |
OMIM:604416 |
Fanconi Anemia, Complementation Group G |
|
Anemia, Growth delay, Thrombocytopenia, Neutropenia, Leukemia |
OMIM:614082 |
Preeclampsia/Eclampsia 1 |
|
Thrombocytopenia, Intrauterine growth retardation |
OMIM:189800 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly |
OMIM:206400 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Megaloblastic anemia, Decreased circulating antibody level, Hyperhomocystinemia, Lymphopenia, Pan... |
OMIM:617780 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Aspiration pneumonia, Elevated circulating creatine kinase concentration, Dyspnea, Cough, Respira... |
ORPHA:90117 |
Immunodeficiency 69 |
|
Anemia, Pancytopenia, Hepatosplenomegaly, Failure to thrive, Thrombocytosis, Leukocytosis, Spleno... |
OMIM:618963 |
Isolated Congenital Hypoglossia/Aglossia |
|
Aspiration pneumonia, Hamartoma, Respiratory distress, Upper airway obstruction, Dyspnea |
ORPHA:141152 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ... |
ORPHA:169160 |
Congenital Factor Ii Deficiency |
|
Post-partum hemorrhage, Abnormal umbilical stump bleeding, Abnormal bleeding, Intracranial hemorr... |
ORPHA:325 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Malnutrition, Abnormal intestine morphology, Protracted diarrhea, Villous atrophy |
OMIM:251850 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Short tibia, Patent ductus arteriosus, Polyhydramnios, Respiratory tract infection, Rhizomelia, D... |
OMIM:607143 |
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis |
ORPHA:280794 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia, Rhizomelia |
OMIM:166990 |
Neurofibromatosis-Noonan Syndrome |
|
Prolonged bleeding time |
ORPHA:638 |
Pulmonary Venoocclusive Disease 1, Autosomal Dominant |
|
Pulmonary arterial hypertension, Elevated jugular venous pressure, Abnormally loud pulmonic compo... |
OMIM:265450 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Respiratory failure, Elevated circulating creatine kinase concentration, Respiratory insufficienc... |
OMIM:300717 |
Mulibrey Nanism |
|
Cachexia, Hepatomegaly |
ORPHA:2576 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Thin bony cortex, Metaphyseal irregularity, Recurrent fractures, Bulging epiphyses, Tibial bowing... |
OMIM:600081 |
Immunodeficiency 16 |
|
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia |
OMIM:615593 |
Spinal Muscular Atrophy, Type I |
|
Respiratory insufficiency, Respiratory failure, Recurrent respiratory infections |
OMIM:253300 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Thin bony cortex, Broad tibial metaphyses, Increased bone mineral density, Broad femoral head, Fi... |
ORPHA:85188 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
T lymphocytopenia, Recurrent aspiration pneumonia, Hepatosplenomegaly, Hepatomegaly, Absence of l... |
ORPHA:79124 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Thrombocytopenia, Bone marrow hypocellularity, Impaired platelet aggregation |
OMIM:300835 |
Visceral Myopathy 2 |
|
Gastroesophageal reflux, Esophageal stricture, Ineffective esophageal peristalsis, Volvulus, Mega... |
OMIM:619350 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Reduced natural killer cell count, Perianal abscess, Weight loss, Lymphocytosis, Thrombocytosis, ... |
OMIM:301074 |
Mucopolysaccharidosis-Plus Syndrome |
|
Leukopenia, Anemia, Recurrent respiratory infections, Enlarged kidney, Recurrent bronchopulmonary... |
OMIM:617303 |
Ciliary Dyskinesia, Primary, 7 |
|
Decreased nasal nitric oxide, Bronchiectasis, Recurrent otitis media, Chronic rhinitis, Recurrent... |
OMIM:611884 |
Sea-Blue Histiocyte Disease |
|
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly, Cirrhosis |
OMIM:269600 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neutropenia, Eosinophilia |
OMIM:257100 |
Eosinophilopenia |
|
Decreased eosinophil count |
OMIM:131430 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Respiratory insufficiency, Unconjugated hyperbilirubinemia, Reticulocytosis, Hepatosplenomegaly, ... |
OMIM:618278 |
Ciliary Dyskinesia, Primary, 28 |
|
Rhinitis, Decreased nasal nitric oxide, Chronic bronchitis, Bronchiectasis, Respiratory insuffici... |
OMIM:615505 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia, Increased circulating IgA level |
OMIM:314000 |
Chronic Intestinal Pseudoobstruction |
|
Intestinal malrotation, Abnormal platelet morphology, Pyloric stenosis, Abnormal intestine morpho... |
ORPHA:2978 |
Cln3 Disease |
|
T-wave inversion, Bradycardia, Vacuolated lymphocytes |
ORPHA:228346 |
Immunodeficiency 7 |
|
Hypereosinophilia, Recurrent respiratory infections, Autoimmune hemolytic anemia, Failure to thri... |
OMIM:615387 |
Babesiosis |
|
Respiratory insufficiency, Leukopenia, Hemolytic anemia, Jaundice, Recurrent pharyngitis, Cough, ... |
ORPHA:108 |
Myeloproliferative Syndrome, Transient |
|
Transient myeloproliferative syndrome, Leukocytosis |
OMIM:159595 |
Esophagitis, Eosinophilic, 2 |
|
Esophagitis, Vomiting, Eosinophilia, Dysphagia |
OMIM:613412 |
Esophagitis, Eosinophilic, 1 |
|
Esophagitis, Vomiting, Eosinophilia, Dysphagia |
OMIM:610247 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Arthritis, Crypt hyperplasia, Intractable diarrhea, Villous atrophy |
OMIM:613217 |
Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Eosinophilia, Myeloproliferative disorder |
OMIM:131440 |
Bleeding Disorder, Platelet-Type, 15 |
|
Platelet anisocytosis, Thrombocytopenia, Epistaxis, Increased mean platelet volume |
OMIM:615193 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory insufficiency, Bronchiectasis, Desquamative interstitial pneumonitis, Decreased DLCO,... |
OMIM:610913 |
Metatropic Dysplasia |
|
Camptodactyly of finger, Abnormal enchondral ossification, Aplasia/Hypoplasia of the lungs, Coars... |
ORPHA:2635 |
Whim Syndrome 1 |
|
Bronchiectasis, Decreased circulating antibody level, Recurrent upper respiratory tract infection... |
OMIM:193670 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Leukopenia, Anemia, Lymphopenia, Follicular hyperplasia, Increased circulating IgA level, Thrombo... |
OMIM:615934 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Fat malabsorption, Hypoproteinemia, Jejunoileal ulceration, Small bowel diverticula |
OMIM:221400 |
Sinoatrial Node Dysfunction And Deafness |
|
Abnormal QRS complex, Increased heart rate variability, Syncope, Bradycardia |
OMIM:614896 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Short femoral neck, Wide distal femoral metaphysis, Rhizomelia, Hip dysplasia, Limitation of join... |
OMIM:619598 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... |
OMIM:603902 |
Immunodeficiency 96 |
|
Decreased circulating total IgM, Increased proportion of gamma-delta T cells, Defective T cell pr... |
OMIM:619774 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Desquamative interstitial pneumonitis, Absent bronchoalveolar surfactant-protein C, Paraseptal em... |
OMIM:610921 |
Mogs-Cdg |
|
Polyhydramnios, Decreased circulating total IgM, Pulmonary edema, Decreased circulating antibody ... |
ORPHA:79330 |
Macrophage Activation Syndrome |
|
Abnormal natural killer cell count, Anemia, Hypertriglyceridemia, Increased circulating interleuk... |
ORPHA:158061 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Decreased circulating total IgM, B lymphocytopenia, Asthma, Decreased circulating IgG2 level, Abs... |
OMIM:102700 |
Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Hepatomegaly, Intrauterine growth retardation, Thrombocytopenia, Splenomegaly |
OMIM:615010 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Bronchiectasis, Generalized lymphadenopathy, Recurrent sinusitis, Thrombocytopenia, Pneumonia, Sp... |
OMIM:614700 |
Pyle Disease |
|
Thin bony cortex, Genu valgum, Hypoplastic frontal sinuses, Absent paranasal sinuses, Limited elb... |
OMIM:265900 |
Ciliary Dyskinesia, Primary, 24 |
|
Decreased nasal nitric oxide, Bronchiectasis, Immotile cilia, Recurrent sinusitis, Chronic pulmon... |
OMIM:615481 |
Paget Disease Of Bone 2, Early-Onset |
|
Increased susceptibility to fractures, Short femur, Femoral bowing, Osteolysis, Sclerosis of skul... |
OMIM:602080 |
Hip Dysplasia, Beukes Type |
|
Broad femoral neck, Abnormal bone ossification, Coxa vara, Abnormality of the epiphysis of the fe... |
ORPHA:2114 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Decreased body weight, Pulmonic stenosis, Failure to thrive, Ventricular escape rhythm, Mitral re... |
OMIM:616201 |
Epiphyseal Dysplasia, Multiple, 5 |
|
Broad femoral neck, Genu valgum, Metaphyseal irregularity, Coxa vara, Short metacarpal, Short fem... |
OMIM:607078 |
Macrosomia Adiposa Congenita |
|
Obesity, Large for gestational age, Eosinophilia |
OMIM:248100 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Increased susceptibility to fractures, Acute myeloid leukemia, Splenomegaly, Increased basophil c... |
ORPHA:98849 |
Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
Ichthyosis-Prematurity Syndrome |
|
Eosinophilia |
ORPHA:88621 |
Weismann-Netter Syndrome |
|
Anemia, Abnormality of the humerus, Tibial bowing, Abnormal cortical bone morphology, Femoral bow... |
ORPHA:3344 |
Immunodeficiency 22 |
|
Anemia, Decreased circulating total IgM, Decreased circulating IgE, Recurrent upper respiratory t... |
OMIM:615758 |
Avian Influenza |
|
Leukopenia, Pneumothorax, Productive cough, Hypoxemia, Respiratory distress, Lymphopenia, Elevate... |
ORPHA:454836 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Recurrent bronchopulmonary infections, Neutropenia |
ORPHA:90023 |
Primary Intestinal Lymphangiectasia |
|
Anemia, Reduced proportion of CD4+ effector memory T cells, Decreased circulating total IgM, Decr... |
ORPHA:90362 |
Bile Acid Malabsorption, Primary, 1 |
|
Increased fecal bile acid, Fat malabsorption, Steatorrhea, Chronic diarrhea |
OMIM:613291 |
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Esophageal food impaction, Gastroesophageal reflux, Vomiting, Eosinophilic infiltration of the es... |
ORPHA:411696 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Respiratory insufficiency, Leukopenia, Anemia, Pulmonary arterial hypertension, Hyperuricemia, Pa... |
OMIM:613845 |
Mastocytosis |
|
Recurrent fractures, Mastocytosis, Osteoporosis, Hypercalcemia, Angioedema, Acute leukemia, Splen... |
ORPHA:98292 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Anemia, Hypersplenism, Hepatomegaly, Hypocholesterolemia, Thrombocytopenia, Splenomegaly |
OMIM:610539 |
Kimura Disease |
|
Lymphadenopathy, Follicular hyperplasia, Increased circulating IgE level, Eosinophilia |
ORPHA:482 |
Osteopetrosis, Autosomal Recessive 7 |
|
Anemia, Decreased circulating total IgM, Abnormal trabecular bone morphology, Recurrent pneumonia... |
OMIM:612301 |
Good Syndrome |
|
Thymoma, Anemia, Recurrent respiratory infections, Bronchiectasis, Decreased circulating antibody... |
ORPHA:169105 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Leukopenia, Anemia, Hypoplasia of the thymus, Perianal abscess, Recurrent respiratory infections,... |
OMIM:612541 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly |
OMIM:619813 |
Factor X Deficiency |
|
Intracranial hemorrhage, Epistaxis, Gingival bleeding, Menorrhagia, Prolonged prothrombin time, P... |
OMIM:227600 |
Spondyloepiphyseal Dysplasia Congenita |
|
Genu valgum, Upper limb undergrowth, Short femoral neck, Limited elbow movement, Short long bone,... |
ORPHA:94068 |
Tempi Syndrome |
|
Increased hematocrit, Hypoxemia, Polycythemia, Transudative pleural effusion, Ascites, Increased ... |
ORPHA:284227 |
Acromesomelic Dysplasia 2A |
|
Short tibia, Short phalanx of finger, Flexion contracture, Aplasia/Hypoplasia involving the metac... |
OMIM:200700 |
Acute Lung Injury |
|
Abnormal pulmonary interstitial morphology, Increased circulating interleukin 6 concentration, Ab... |
ORPHA:178320 |
Immunodeficiency 92 |
|
B lymphocytopenia, Lymphocytosis, Sclerosing cholangitis, Cholangitis, Decreased proportion of cl... |
OMIM:619652 |
Interstitial Lung Disease 2 |
|
Pulmonary arterial hypertension, Cirrhosis, Elevated bronchoalveolar lavage fluid neutrophil prop... |
OMIM:178500 |
Long Qt Syndrome 13 |
|
Torsade de pointes, Pulmonary embolism, Permanent atrial fibrillation, Reduced left ventricular e... |
OMIM:613485 |
Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Upper limb undergrowth, Abnormal cortical bone morphology, Limitation of joint mobility, Patholog... |
ORPHA:166277 |
Fanconi Anemia, Complementation Group V |
|
Anemia, Short stature, Elevated circulating alpha-fetoprotein concentration, Bone marrow hypocell... |
OMIM:617243 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Anemia, Congenital hemolytic anemia, Increased serum iron, Unconjugated hyperbilirubinemia, Eleva... |
ORPHA:766 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Desquamative interstitial pneumonitis, Respiratory distress, Cough, Recurrent upper respiratory t... |
OMIM:263000 |
Alpha-2-Plasmin Inhibitor Deficiency |
|
Joint hemorrhage, Hemothorax, Bruising susceptibility, Persistent bleeding after trauma |
OMIM:262850 |
Isolated Agammaglobulinemia |
|
Anemia, Recurrent respiratory infections, Short stature, Abnormality of the lymphatic system, Abn... |
ORPHA:229717 |
Fetal Parvovirus Syndrome |
|
Ascites, Anemia, Thrombocytopenia, Intrauterine growth retardation |
ORPHA:295 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating polysaccharide concentration, Diarrhea, Abdominal distention, Abnormal circu... |
ORPHA:103910 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
T lymphocytopenia, Bronchiectasis, Recurrent bronchopulmonary infections, Abnormally low T cell r... |
OMIM:242700 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Splenomegaly, Abnormal leukocyte morphology, Dyspnea, Hemolytic anemia |
ORPHA:228312 |
Reticular Dysgenesis |
|
Leukopenia, Anemia, Weight loss, Decreased circulating antibody level, Aplasia/Hypoplasia of the ... |
ORPHA:33355 |
Interstitial Lung Disease 1 |
|
Intralobular septal thickening, Elevated bronchoalveolar lavage fluid neutrophil proportion, Elev... |
OMIM:619611 |
Alpha-1-Antitrypsin Deficiency |
|
Cirrhosis, Splenomegaly, Reduced serum alpha-1-antitrypsin, Chronic bronchitis, Bronchiectasis, H... |
OMIM:613490 |
Immunodeficiency 55 |
|
Neutropenia, Absent natural killer cells, Lymphopenia |
OMIM:617827 |
Thrombocytopenia 5 |
|
Epistaxis, Anemia, Thrombocytopenia, Neutropenia |
OMIM:616216 |
Developmental And Epileptic Encephalopathy 71 |
|
Respiratory insufficiency, Respiratory failure, Cheyne-Stokes respiration |
OMIM:618328 |
Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Enterocolitis, Perianal abscess, Folliculitis, Pancolitis, Enterocutaneous fistula, Rectovaginal ... |
OMIM:612567 |
Congenital Short Bowel Syndrome |
|
Congenital shortened small intestine, Decreased intestinal transit time, Vomiting, Projectile vom... |
OMIM:615237 |
Wolman Disease |
|
Anemia, Cachexia, Bone-marrow foam cells, Hepatomegaly, Ascites, Splenomegaly |
ORPHA:75233 |
Pseudoachondroplasia |
|
Short phalanx of finger, Irregular carpal bones, Limb undergrowth, Irregular acetabular roof, Lim... |
ORPHA:750 |
Essential Thrombocythemia |
|
Prolonged bleeding time, Abnormal platelet morphology, Abnormality of thrombocytes |
ORPHA:3318 |
Idiopathic Pulmonary Fibrosis |
|
Abnormal pulmonary interstitial morphology, Pulmonary insufficiency, Exertional dyspnea, Bronchie... |
ORPHA:2032 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Bronchiectasis, Respiratory distress, Abnormal mucociliary clearance, Recurrent respiratory infec... |
OMIM:619466 |
Roifman Syndrome |
|
Short toe, Hip contracture, Decreased T cell activation, Decreased circulating antibody level, De... |
ORPHA:353298 |
Necrotizing Enterocolitis |
|
Hypotension, Small for gestational age, Shock, Leukocytosis, Thrombocytopenia, Neutropenia, Brady... |
ORPHA:391673 |
Idiopathic Pulmonary Hemosiderosis |
|
Respiratory failure, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Hepatospleno... |
ORPHA:99931 |
Ciliary Dyskinesia, Primary, 20 |
|
Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Recurrent sinusitis... |
OMIM:615067 |
Epiphyseal Dysplasia, Multiple, 1 |
|
Short phalanx of finger, Broad femoral neck, Genu valgum, Short femoral neck, Avascular necrosis ... |
OMIM:132400 |
Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Anemia, Short stature, Pancytopenia, Bone marrow hypocellularity, Thrombo... |
OMIM:616435 |
Systemic Lupus Erythematosus 17 |
|
Leukopenia, Decreased circulating complement C3 concentration, Lymphopenia, Autoimmune thrombocyt... |
OMIM:301080 |
Gray Platelet Syndrome |
|
Abnormality of thrombocytes, Thrombocytopenia, Epistaxis, Splenomegaly |
ORPHA:721 |
Hyperbilirubinemia, Shunt, Primary |
|
Jaundice, Erythroid hyperplasia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, ... |
OMIM:237800 |
Halothane Hepatitis |
|
Hepatitis, Jaundice, Viral hepatitis, Eosinophilia, Obesity |
OMIM:234350 |
Inflammatory Bowel Disease 3 |
|
Ulcerative colitis |
OMIM:604519 |
Inflammatory Bowel Disease 21 |
|
Ulcerative colitis |
OMIM:612354 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Failure to thrive in infancy, Splenomegaly, Hepatomegaly |
OMIM:619175 |
Mastocytosis, Cutaneous |
|
Edema, Cutaneous mastocytosis |
OMIM:154800 |
Pulmonary Venoocclusive Disease 2, Autosomal Recessive |
|
Pulmonary arterial hypertension, Pulmonary capillary hemangiomatosis, Dyspnea, Cough, Pulmonary v... |
OMIM:234810 |
Cranio-Osteoarthropathy |
|
Abnormality of the knee, Arthritis, Abnormal cortical bone morphology, Clubbing of toes, Abnormal... |
ORPHA:1525 |
Refractory Celiac Disease |
|
Jejunitis, Villous atrophy, Inflammatory abnormality of the skin, Malabsorption, Normocytic anemi... |
ORPHA:398063 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Neutropenia-Monocytopenia-Deafness Syndrome |
|
Abnormality of neutrophils, Abnormal macrophage morphology |
|