Von Willebrand Disease, X-Linked Form |
|
Abnormal bleeding, Prolonged bleeding time |
OMIM:314560 |
Athrombia, Essential |
|
Impaired platelet aggregation, Prolonged bleeding time, Abnormal bleeding, Impaired platelet adhe... |
OMIM:209050 |
Bleeding Disorder, Platelet-Type, 22 |
|
Impaired platelet aggregation, Subcutaneous hemorrhage, Excessive bleeding from superficial cuts |
OMIM:618462 |
Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Pos... |
OMIM:619130 |
Tatsumi Factor Deficiency |
|
Abnormal bleeding, Prolonged bleeding time |
OMIM:272650 |
Glanzmann Thrombasthenia 2 |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein IIb-IIIa, ... |
OMIM:619267 |
Bleeding Disorder, Platelet-Type, 18 |
|
Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation, Menorrhagia, Bruis... |
OMIM:615888 |
Platelet Responsiveness To Adrenaline, Depressed |
|
Impaired epinephrine-induced platelet aggregation |
OMIM:173580 |
Platelet Signal Processing Defect |
|
Abnormal bleeding, Epistaxis, Impaired ADP-induced platelet aggregation, Impaired collagen-induce... |
OMIM:173590 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
Pseudo-Von Willebrand Disease |
|
Prolonged bleeding time, Intermittent thrombocytopenia |
OMIM:177820 |
Bleeding Disorder, Platelet-Type, 24 |
|
Abnormal bleeding, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platele... |
OMIM:619271 |
Bleeding Disorder, Platelet-Type, 11 |
|
Prolonged bleeding time, Epistaxis, Abnormal platelet count, Menorrhagia, Impaired collagen-induc... |
OMIM:614201 |
Glanzmann Thrombasthenia 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Purpura, Epistaxis, Decreased platelet glyc... |
OMIM:273800 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Macrothrombocytopenia, Post-partum hemorrhage, Menorrhagia, Impaired platelet aggregation, Thromb... |
OMIM:124900 |
Thrombocythemia 1 |
|
Impaired collagen-induced platelet aggregation, Thrombocytosis, Impaired ADP-induced platelet agg... |
OMIM:187950 |
Platelet Glycoprotein Iv Deficiency |
|
Abnormal bleeding, Prolonged bleeding time, Giant platelets, Thrombocytopenia |
OMIM:608404 |
Bleeding Disorder, Platelet-Type, 8 |
|
Abnormal bleeding, Epistaxis, Prolonged bleeding after surgery, Impaired ADP-induced platelet agg... |
OMIM:609821 |
Immunodeficiency 79 |
|
Decreased proportion of CD4-positive T cells |
OMIM:619238 |
Glanzmann Thrombasthenia |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Purpura, ... |
ORPHA:849 |
Platelet Disorder, Undefined |
|
Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia |
OMIM:173420 |
Immunodeficiency 15A |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:618204 |
Bleeding Disorder, Platelet-Type, 13, Susceptibility To |
|
Impaired thromboxane A2 agonist-induced platelet aggregation, Ecchymosis, Bruising susceptibility... |
OMIM:614009 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Recurrent respiratory infections, Recurrent sinopulmonary infections, Splenomegaly, Bronchiectasi... |
OMIM:615513 |
Immunodeficiency 95 |
|
Respiratory distress, Recurrent respiratory infections, Lymphopenia, Decreased circulating IgG3 l... |
OMIM:619773 |
Bernard-Soulier Syndrome |
|
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Impaired rist... |
OMIM:231200 |
Bleeding Disorder, Platelet-Type, 16 |
|
Abnormal bleeding, Petechiae, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impa... |
OMIM:187800 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
Okt4 Epitope Deficiency |
|
Abnormal T cell morphology |
OMIM:613949 |
Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Lymphopenia |
OMIM:615615 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal bleeding, Abnormal platelet function, Thrombocytopenia |
ORPHA:231393 |
Bleeding Disorder, Platelet-Type, 14 |
|
Prolonged bleeding time, Ecchymosis, Bruising susceptibility, Epistaxis |
OMIM:614158 |
Immunodeficiency 24 |
|
Decreased circulating IgG level, Decreased CD4:CD8 ratio, Respiratory tract infection, Decreased ... |
OMIM:615897 |
Von Willebrand Disease, Type 3 |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery, Joint he... |
OMIM:277480 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... |
OMIM:619220 |
Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells |
OMIM:312863 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Splenomegaly, Failure to thrive |
OMIM:269840 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... |
OMIM:202700 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Recurrent respiratory infections, Pancytopenia, Hemolytic anemia, Hepatomegaly, Autoimmune thromb... |
OMIM:614470 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l... |
OMIM:619924 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation,... |
OMIM:155100 |
Lymphoma, Hodgkin, Classic |
|
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM |
OMIM:236000 |
Bleeding Disorder, Platelet-Type, 12 |
|
Epistaxis, Intestinal bleeding, Menorrhagia, Impaired platelet aggregation, Bruising susceptibili... |
OMIM:605735 |
Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Thrombocytopenia |
OMIM:614493 |
Cd8 Deficiency, Familial |
|
Absence of CD8-positive T cells |
OMIM:608957 |
Immunodeficiency 15B |
|
Monocytosis, Failure to thrive, Reduced natural killer cell count |
OMIM:615592 |
Quebec Platelet Disorder |
|
Epistaxis, Menorrhagia, Bruising susceptibility, Joint hemorrhage, Thrombocytopenia, Impaired epi... |
OMIM:601709 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Factor V Deficiency |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Menorrhagia, B... |
OMIM:227400 |
Von Willebrand Disease |
|
Abnormality of thrombocytes, Abnormal platelet function |
ORPHA:903 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... |
OMIM:153600 |
Immunodeficiency 27A |
|
Abnormal bronchus physiology, Pneumonia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphade... |
OMIM:209950 |
Specific Granule Deficiency 1 |
|
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... |
OMIM:245480 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia |
OMIM:608898 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ... |
OMIM:606843 |
Immunodeficiency 19 |
|
T lymphocytopenia, Failure to thrive, Abnormal B cell morphology, Abnormal natural killer cell mo... |
OMIM:615617 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia |
OMIM:242870 |
Bleeding Disorder, Platelet-Type, 21 |
|
Abnormal bleeding, Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Men... |
OMIM:617443 |
Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Neutropenia |
OMIM:615214 |
Hermansky-Pudlak Syndrome 7 |
|
Prolonged bleeding time, Epistaxis, Post-partum hemorrhage, Menorrhagia, Impaired platelet aggreg... |
OMIM:614076 |
Diamond-Blackfan Anemia 19 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Anemia |
OMIM:618312 |
Gray Platelet Syndrome |
|
Abnormal bleeding, Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Epist... |
OMIM:139090 |
Immunodeficiency 57 With Autoinflammation |
|
Perianal abscess, T lymphocytopenia, B lymphocytopenia, Failure to thrive, Reduced natural killer... |
OMIM:618108 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent pneumonia, Monocytosi... |
OMIM:619281 |
Lymphoproliferative Syndrome 3 |
|
Reduced natural killer cell count, Hepatosplenomegaly |
OMIM:618261 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... |
OMIM:601859 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Aplastic anemia, Dysgammaglobulinem... |
OMIM:308240 |
Histiocytosis, Familial Lipochrome |
|
Increased alpha-globulin, Increased circulating antibody level, Histiocytosis |
OMIM:235900 |
Immunodeficiency 20 |
|
Reduced natural killer cell count |
OMIM:615707 |
Immunodeficiency 36 With Lymphoproliferation |
|
Decreased circulating IgG level, Short stature, Splenomegaly, Recurrent upper respiratory tract i... |
OMIM:616005 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
Bleeding Disorder, Platelet-Type, 17 |
|
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Petechiae, Epistaxis, Pr... |
OMIM:187900 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Failure to thrive, Redu... |
OMIM:300400 |
Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia, Recurrent upper respira... |
OMIM:617585 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Prolonged bleeding time, Epistaxis, Bruising susceptibility, Impaired platelet aggregation, Abnor... |
OMIM:601399 |
Diamond-Blackfan Anemia-Like |
|
Steroid-responsive anemia, Pure red cell aplasia |
OMIM:617911 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Hypereosinophilia, Abnormal proportion of CD8-positive T cells, Abnormal n... |
OMIM:212050 |
Epilepsy With Bilateral Occipital Calcifications |
|
Celiac disease |
OMIM:226810 |
Moyamoya Disease With Early-Onset Achalasia |
|
Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Elevated circulating C-reactive protein concentration, Leukocytosis, Ulcerative colitis, Bloody d... |
OMIM:619398 |
Inflammatory Bowel Disease 29 |
|
Ulcerative colitis, Crohn's disease |
OMIM:618077 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Bronchiolitis obli... |
OMIM:617241 |
Caspase 8 Deficiency |
|
Decreased circulating IgG level, Recurrent sinopulmonary infections, Complete or near-complete ab... |
OMIM:607271 |
Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... |
OMIM:617514 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy |
OMIM:183350 |
Thrombophilia Due To Thrombomodulin Defect |
|
Pulmonary embolism |
OMIM:614486 |
Immunodeficiency 62 |
|
Autoimmune thrombocytopenia, Recurrent upper respiratory tract infections, Bronchiectasis, Decrea... |
OMIM:618459 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Impaired neutrophil killing of staphylococci |
OMIM:233670 |
Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Recurrent pneumonia, ... |
OMIM:610163 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Acute myeloid leukemia, Refractory anemia, Leukopenia, Monocytosis, Bone marrow hypocellularity |
OMIM:616871 |
Immunodeficiency 51 |
|
Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic ... |
OMIM:613953 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased circulating IgE level, Bronchiectasis, Lymphadenopathy, Increased proportion of memory ... |
OMIM:618982 |
Storage Pool Platelet Disease |
|
Abnormal bleeding, Prolonged bleeding time, Decreased mean platelet volume |
OMIM:185050 |
Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Lymphadenopathy, De... |
ORPHA:397596 |
Immunodeficiency 8 With Lymphoproliferation |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:615401 |
Prothrombin Deficiency, Congenital |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno... |
OMIM:613679 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, Recurrent upper respiratory tract infection... |
OMIM:613101 |
Immunodeficiency 85 And Autoimmunity |
|
Failure to thrive in infancy, T lymphocytopenia, Decreased proportion of CD4-positive helper T ce... |
OMIM:619510 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
B lymphocytopenia, Failure to thrive in infancy, Abnormally low T cell receptor excision circle l... |
OMIM:618987 |
Immunodeficiency, Common Variable, 11 |
|
Mucoid diarrhea, Increased circulating IgE level, Decreased proportion of class-switched memory B... |
OMIM:615767 |
Immunodeficiency 102 |
|
Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutropil antibodies, Leukopenia, De... |
OMIM:301082 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
T lymphocytopenia, Abnormally low T cell receptor excision circle level |
OMIM:618806 |
Thrombophilia, X-Linked, Due To Factor Viii Defect |
|
Pulmonary embolism |
OMIM:301071 |
Von Willebrand Disease, Type 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery... |
OMIM:193400 |
Niemann-Pick Disease, Type B |
|
Hepatomegaly, Recurrent respiratory infections, Decreased HDL cholesterol concentration, Short st... |
OMIM:607616 |
Ciliary Dyskinesia, Primary, 44 |
|
Neonatal respiratory distress, Reduced forced expiratory volume in one second, Reduced forced vit... |
OMIM:618781 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
Eiken Syndrome |
|
Abnormal trabecular bone morphology, Epiphyseal dysplasia, Abnormal acetabulum morphology, Absenc... |
ORPHA:79106 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased... |
OMIM:615285 |
Hermansky-Pudlak Syndrome 3 |
|
Abnormal bleeding, Spontaneous, recurrent epistaxis, Gingival bleeding, Bruising susceptibility, ... |
OMIM:614072 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... |
OMIM:603909 |
Thrombocytopenia, Paris-Trousseau Type |
|
Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia |
OMIM:188025 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... |
OMIM:619313 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Pneumonia, Plasmacytosis, Increased circulating antibody level, Lymp... |
OMIM:247800 |
Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
Cernunnos-Xlf Deficiency |
|
Decreased circulating antibody level, Anemia, T lymphocytopenia, Growth delay, B lymphocytopenia,... |
ORPHA:169079 |
Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Anemia, Hepatomegaly |
ORPHA:294 |
Thrombophilia Due To Thrombin Defect |
|
Pulmonary embolism |
OMIM:188050 |
Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato... |
OMIM:308230 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent respiratory infections, Impaired Ig class switch recombination, Lymphadenopathy, Increa... |
OMIM:605258 |
Immunodeficiency 11A |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... |
OMIM:615206 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Petechiae, Epistaxis, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced plat... |
OMIM:153670 |
Schnitzler Syndrome |
|
Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Increased circulating IgM level, Anemia |
ORPHA:37748 |
Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Hepatomegaly |
OMIM:606445 |
Antithrombin Iii Deficiency |
|
Arterial occlusion, Pulmonary embolism |
OMIM:613118 |
Thrombocytopenia 2 |
|
Leukocytosis, Thrombocytopenia |
OMIM:188000 |
Osteochondrosis Of The Metatarsal Bone |
|
Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn... |
ORPHA:564003 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Recurrent sinopulmonary infections, Absent specific antibody response, Decreased proportion of CD... |
OMIM:619846 |
Immunoerythromyeloid Hypoplasia |
|
Erythroid hypoplasia, Decreased circulating IgG level |
OMIM:242880 |
Bronchiectasis With Or Without Elevated Sweat Chloride 3 |
|
Bronchiectasis, Chronic bronchitis |
OMIM:613071 |
Bronchiectasis With Or Without Elevated Sweat Chloride 2 |
|
Bronchiectasis, Chronic bronchitis |
OMIM:613021 |
Bronchiectasis With Or Without Elevated Sweat Chloride 1 |
|
Bronchiectasis, Chronic bronchitis |
OMIM:211400 |
Immunodeficiency 32B |
|
Recurrent respiratory infections, Hepatomegaly, Neutrophilia, Pneumonia, Eosinophilia, Thrombocyt... |
OMIM:226990 |
Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells |
OMIM:611926 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Absent peripheral lymph nodes in presence of infection, Abnormal immunoglobulin level, Increased ... |
ORPHA:98813 |
Immunodeficiency 50 |
|
Recurrent respiratory infections, Decreased circulating antibody level, Lymphopenia, Neutropenia |
OMIM:300988 |
Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Monocytosis, Increased circulating IgM level, Neutropenia, Monocytopen... |
ORPHA:2688 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphopenia, B lymphocytopenia, T lymphocytopenia |
OMIM:619164 |
Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Generalized lymphadenopathy, Hypertriglyceridemia, Decreased lymphocyte proliferati... |
OMIM:620282 |
Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Failure to thrive, Diffuse alveolar hemorrhage, Splenomegaly, Anemia, Reduced natur... |
OMIM:616050 |
Young Syndrome |
|
Recurrent sinopulmonary infections, Congenital pulmonary airway malformation, Bronchiectasis, Rec... |
OMIM:279000 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Generalized lymphadenopathy, Lymphadenitis, Leukopenia, T lymphocytopenia, Neutropenia, Decreased... |
OMIM:618986 |
Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Neutrophilia, Recurrent pneumonia, Abnormal pulmonary interstitial morphology, Hepa... |
OMIM:619644 |
Immunodeficiency 54 |
|
Splenomegaly, Failure to thrive, Reduced natural killer cell count |
OMIM:609981 |
Eosinophilia, Familial |
|
Eosinophilia, Recurrent bronchitis, Thrombocytopenia, Leukocytosis, Anemia |
OMIM:131400 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... |
OMIM:616452 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Mastocytosis |
ORPHA:66661 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Prolonged bleeding time, Petechiae, Epistaxis, Reduced platelet alpha granules, Increased mean pl... |
OMIM:314050 |
Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... |
OMIM:619802 |
Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... |
OMIM:253240 |
Lactose Intolerance, Adult Type |
|
Lactose intolerance, Flatulence, Abdominal pain, Decreased small intestinal mucosa lactase level,... |
OMIM:223100 |
Slc35A1-Cdg |
|
Abnormal bleeding, Prolonged bleeding time, Subcutaneous hemorrhage, Giant platelets, Abnormal pl... |
ORPHA:238459 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Recurrent respiratory infections, Transient neutropenia, Agammaglobulinemia, Decreased circulatin... |
OMIM:619707 |
Immune Thrombocytopenia |
|
Thrombocytopenia |
OMIM:188030 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... |
OMIM:619824 |
Immunodeficiency 104 |
|
Splenomegaly, Failure to thrive secondary to recurrent infections, T lymphocytopenia |
OMIM:608971 |
Transcobalamin Deficiency |
|
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... |
ORPHA:859 |
Immunodeficiency 89 And Autoimmunity |
|
Pulmonary bulla, Reduced circulating interleukin 17A concentration, Reduced circulating interleuk... |
OMIM:619632 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Failure to thrive, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positiv... |
ORPHA:169154 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Lymphocytic intersti... |
OMIM:618495 |
Heparin-Induced Thrombocytopenia |
|
Increased inflammatory response, Myocardial infarction, Pulmonary embolism, Abnormal onset of ble... |
ORPHA:3325 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Failure to thrive, Neutropenia, Absent circulating B cells, Abnormal T cell morphology |
OMIM:613501 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin... |
OMIM:613500 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Recurrent bronchopulmonary infections, Short stature, Decreased circulating total IgM, Neutropenia |
OMIM:610798 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... |
OMIM:205950 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... |
OMIM:613502 |
Hemophilia B |
|
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join... |
ORPHA:98879 |
Reticular Dysgenesis |
|
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... |
OMIM:267500 |
Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Pneumonia, Impaired T cell function, Splenomegaly, Recurrent pneumonia, Neutropenia... |
OMIM:607594 |
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating interleukin 6 concentration, Recurrent upper respiratory tract infections, ... |
OMIM:618944 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Recurre... |
OMIM:608106 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Autoimmune thromb... |
OMIM:300853 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Colitis, Pyoderma, Crohn's disease |
OMIM:613148 |
Bone Marrow Failure Syndrome 4 |
|
Recurrent respiratory infections, Short stature, Rhizomelia, Decreased circulating antibody level... |
OMIM:618116 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ... |
OMIM:613011 |
Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... |
OMIM:615294 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
T lymphocytopenia, Failure to thrive, B lymphocytopenia, Failure to thrive secondary to recurrent... |
OMIM:601457 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:2274 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia |
ORPHA:231249 |
Diamond-Blackfan Anemia 17 |
|
Anemia |
OMIM:617409 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-los... |
OMIM:619079 |
Boutonneuse Fever |
|
Cervical lymphadenopathy, Lymphadenopathy, Leukopenia, Increased circulating IgG level, Increased... |
ORPHA:83313 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... |
OMIM:615559 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
B lymphocytopenia |
OMIM:616941 |
Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abn... |
ORPHA:1802 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Villous atrophy, Abdominal colic, Hyperlipidemia, Diarrhea, Protein-losing enteropathy, Hypoalbum... |
OMIM:615863 |
Aplasia Cutis Congenita |
|
Prolonged bleeding time |
ORPHA:1114 |
Ciliary Dyskinesia, Primary, 42 |
|
Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat... |
OMIM:618695 |
Hermansky-Pudlak Syndrome 9 |
|
Abnormal platelet aggregation, Thrombocytopenia |
OMIM:614171 |
Immunodeficiency 13 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
Refractory Anemia |
|
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Dysp... |
ORPHA:98826 |
Immunodeficiency, Common Variable, 3 |
|
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Decrease... |
OMIM:613493 |
Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Neutropenia |
OMIM:162700 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Epiphyseal stippling, Short femur, Rhizomelia, Short humerus |
OMIM:600121 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Sinusitis, Absence of lymph node germinal center, Recurrent upper respiratory tract infections, R... |
ORPHA:277 |
Immunodeficiency 43 |
|
Lung abscess, B lymphocytopenia, Reduced natural killer cell count |
OMIM:241600 |
Immunodeficiency 17 |
|
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, T lymphocytopenia, Abn... |
OMIM:615607 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Weight loss, Increased circul... |
ORPHA:100024 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ... |
ORPHA:1303 |
Immunodeficiency 68 |
|
T lymphocytopenia, Abnormal natural killer cell count, B lymphocytopenia, Abscess |
OMIM:612260 |
Multicentric Reticulohistiocytosis |
|
Cachexia, Histiocytosis |
ORPHA:139436 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... |
OMIM:612692 |
Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Inflammation of the large i... |
OMIM:266600 |
Idiopathic Acute Eosinophilic Pneumonia |
|
Abnormal eosinophil morphology, Abnormal pleura morphology |
ORPHA:724 |
Hermansky-Pudlak Syndrome 5 |
|
Prolonged bleeding time, Absent platelet dense granules, Epistaxis, Impaired ADP-induced platelet... |
OMIM:614074 |
Fibular Hemimelia |
|
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... |
ORPHA:93323 |
Monocyte Chemotactic Disorder |
|
Cutaneous anergy |
OMIM:252250 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Cerebral vasculitis, Eosinophilia, Subarachnoid hemorrhage, Decreased proportion of CD4-positive ... |
OMIM:243700 |
Acute Myelomonocytic Leukemia |
|
Eosinophilia, Dyspnea, Leukocytosis, Anemia, Thrombocytopenia |
ORPHA:517 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
T lymphocytopenia, Failure to thrive, Reduced natural killer cell count |
OMIM:242860 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Increased bone mineral density, Polyhydramnios, Splenomegaly, Abnormal limb bone morphology, Abno... |
ORPHA:2204 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Decreased circulating IgG level, Hepatomegaly, Recurrent respiratory infections, Short stature, P... |
OMIM:620210 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Lymphopenia, Failure to thrive, Decreased proportion of naive T cells, Abnormally low T cell rece... |
ORPHA:276 |
Reticuloendotheliosis, X-Linked |
|
Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy |
OMIM:312500 |
Immunodeficiency 60 And Autoimmunity |
|
Pancytopenia, Splenomegaly, Chronic diarrhea, Bronchiectasis, Ulcerative colitis, Decreased circu... |
OMIM:618394 |
Caffey Disease |
|
Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyses, Increase... |
ORPHA:1310 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Respiratory tract inf... |
ORPHA:444463 |
Pneumocystosis |
|
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Abnormal neutrophil... |
ORPHA:723 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Immunodeficiency 44 |
|
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... |
OMIM:616636 |
Alpha-Heavy Chain Disease |
|
Abnormal small intestine morphology, Dysgammaglobulinemia, Malabsorption, Abdominal pain, Splenom... |
ORPHA:100025 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Acute l... |
ORPHA:158057 |
Ciliary Dyskinesia, Primary, 9 |
|
Neonatal respiratory distress, Pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Chronic r... |
OMIM:612444 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Pneumonia, Eosinophi... |
ORPHA:486 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Hereditary Progressive Mucinous Histiocytosis |
|
Mucinous histiocytosis, Lymphadenopathy |
ORPHA:158025 |
Bernard-Soulier Syndrome |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Petechiae, Hema... |
ORPHA:274 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ... |
OMIM:600802 |
Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media... |
OMIM:616726 |
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia |
|
Intrauterine growth retardation, Anemia |
ORPHA:2802 |
Hermansky-Pudlak Syndrome 6 |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation,... |
OMIM:614075 |
Mounier-Kühn Syndrome |
|
Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis |
ORPHA:3347 |
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant |
|
Pulmonary embolism |
OMIM:176860 |
Ciliary Dyskinesia, Primary, 23 |
|
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Bronchiectasis, Respiratory... |
OMIM:615451 |
Eosinophil Peroxidase Deficiency |
|
Eosinophil nuclear hypersegmentation |
OMIM:261500 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent respiratory infections, Failure to thrive, Neutropenia |
OMIM:616022 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum... |
OMIM:600785 |
Malaria |
|
Respiratory distress, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Hy... |
ORPHA:673 |
Immunodeficiency 75 With Lymphoproliferation |
|
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Folli... |
OMIM:619126 |
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Portal hypertension, Nodular regenerative hyperplasia of liver, Abnormal pleura morphology, Incre... |
ORPHA:210136 |
Immunodeficiency 46 |
|
Recurrent sinopulmonary infections, Intermittent thrombocytopenia, Decreased circulating antibody... |
OMIM:616740 |
Diarrhea 6 |
|
Chronic diarrhea, Crohn's disease, Abdominal pain |
OMIM:614616 |
Leishmaniasis |
|
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Lymphadenopathy, Anemia... |
ORPHA:507 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased circulating IgG level, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Auto... |
ORPHA:331206 |
Atypical Hemolytic Uremic Syndrome |
|
Decreased circulating complement factor B concentration, Abnormality of complement system, Microa... |
ORPHA:2134 |
Mantle Cell Lymphoma |
|
Splenomegaly, Weight loss, Lymphadenopathy |
ORPHA:52416 |
Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
Trimethylaminuria |
|
Tachycardia, Splenomegaly, Hypertension, Neutropenia, Anemia |
OMIM:602079 |
Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Eosinophilia, Elevated circulating C-reactive protein ... |
ORPHA:2070 |
Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia |
OMIM:618310 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Recurrent respiratory infections, Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumula... |
OMIM:618042 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Increased circulating ferritin concen... |
OMIM:603552 |
Myh9-Related Disease |
|
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Increased mean platelet volume, Giant ... |
ORPHA:182050 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Cutaneous abscess, Lymphopenia, Reduced natural killer cell count, Neutropenia |
OMIM:619752 |
Ataxia-Pancytopenia Syndrome |
|
Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Abnormality of ne... |
ORPHA:2585 |
Melorheostosis With Osteopoikilosis |
|
Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone... |
ORPHA:1879 |
Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal t... |
ORPHA:3416 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Elevated circulating C-reactive protein concentration, Increased circula... |
OMIM:618048 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Ciliary Dyskinesia, Primary, 39 |
|
Decreased nasal nitric oxide, Bronchiectasis, Cough, Recurrent otitis media, Recurrent lower resp... |
OMIM:618254 |
Bleeding Disorder, Platelet-Type, 19 |
|
Thrombocytopenia, Macrothrombocytopenia, Epistaxis, Anemia |
OMIM:616176 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Dyspepsia, Abnormal small intestinal mucosa morphology, Abdominal pain, Malabsorption, Decreased ... |
ORPHA:103907 |
Allergic Bronchopulmonary Aspergillosis |
|
Emphysema, Abnormal eosinophil morphology, Bronchiectasis, Weight loss |
ORPHA:1164 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Lymphopenia, Atrophic gastritis, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Eczema, Au... |
OMIM:616100 |
Ciliary Dyskinesia, Primary, 46 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni... |
OMIM:619436 |
Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia in... |
ORPHA:75508 |
Jessner Lymphocytic Infiltration Of The Skin |
|
Abnormal lymphocyte morphology |
ORPHA:33314 |
Amegakaryocytic Thrombocytopenia, Congenital, 1 |
|
Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia |
OMIM:604498 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity |
OMIM:620133 |
Glycine Encephalopathy 2 |
|
Respiratory failure, Nonketotic hyperglycinemia |
OMIM:620398 |
Bone Marrow Failure Syndrome 2 |
|
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
OMIM:615715 |
Sclerosteosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Finger syndactyly, 2-3 finger syndacty... |
ORPHA:3152 |
Autoinflammatory Disease, Familial, Behcet-Like 3 |
|
Ileitis |
OMIM:618287 |
Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia |
OMIM:616873 |
Immunodeficiency 70 |
|
Decreased circulating antibody level, Decreased circulating total IgA, Decreased circulating tota... |
OMIM:618969 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Minimal chan... |
OMIM:617006 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ... |
ORPHA:75564 |
Ciliary Dyskinesia, Primary, 3 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:608644 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Elevated circulating C-reactive protein concentration, Crackles, Hypersensitivity pneumonitis, At... |
ORPHA:2902 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Short stature, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Splenomegaly, Eosinophilia, Hepatomegaly |
OMIM:607685 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia, Abnormal pleura morphology |
ORPHA:2582 |
Acute Interstitial Pneumonia |
|
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Elevated circulat... |
ORPHA:79126 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium |
OMIM:616868 |
Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... |
OMIM:615872 |
Blue Rubber Bleb Nevus |
|
Prolonged bleeding time, Intestinal bleeding |
ORPHA:1059 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
Ciliary Dyskinesia, Primary, 27 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:615504 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... |
ORPHA:911 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Dyspnea, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocyt... |
ORPHA:231401 |
Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Pneumonia, Recurrent upper respiratory tract infections, Decreased circulating antibody level, Gr... |
OMIM:614069 |
Jejunal Atresia |
|
Jejunal atresia |
OMIM:243600 |
Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Generalized osteosclerosis, Clavicular sclerosis, Abnormal cortical bo... |
ORPHA:2790 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... |
OMIM:613470 |
Immunodeficiency 88 |
|
Eosinophilia |
OMIM:619630 |
Tularemia |
|
Respiratory distress, Brain abscess, Pneumonia, Mediastinal lymphadenopathy, Leukocytosis, Cervic... |
ORPHA:3392 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Growth delay, B lymphoc... |
OMIM:301078 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
Indolent Systemic Mastocytosis |
|
Splenomegaly, Osteoporosis, Increased proportion of CD25+ mast cells, Mastocytosis, Abnormal mast... |
ORPHA:98848 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:300991 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly |
ORPHA:46532 |
Idiopathic Achalasia |
|
Wheezing, Recurrent aspiration pneumonia, Bronchitis, Cough |
ORPHA:930 |
Multiple Intestinal Atresia |
|
Gastrointestinal atresia, Duodenal stenosis |
ORPHA:2300 |
Ciliary Dyskinesia, Primary, 41 |
|
Recurrent otitis media, Impaired nasal mucociliary clearance, Bronchiectasis, Recurrent sinusitis |
OMIM:618449 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Neutropenia, Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammaglobuli... |
OMIM:619705 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Acne, Recurrent skin infections, Erythema no... |
OMIM:300635 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Recurrent pneumonia, Chronic pul... |
OMIM:616576 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, B lymphocytopenia, Intermittent throm... |
OMIM:150550 |
Idiopathic Bronchiectasis |
|
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Myocardial... |
ORPHA:60033 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center |
OMIM:235550 |
Diffuse Alveolar Hemorrhage |
|
Respiratory failure requiring assisted ventilation, Cough, Dyspnea, Leukocytosis, Increased DLCO,... |
ORPHA:90060 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Short femur, Fractured radius, Polyhydramnios, Decreased fibular diameter, Multiple p... |
OMIM:616897 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Abnormality of the knee, Tapered finger, Osteolysis, Foot acroosteolysis, Reduced bone mineral de... |
ORPHA:970 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Atelecta... |
ORPHA:70589 |
Immunodeficiency, Common Variable, 7 |
|
Recurrent respiratory infections, Splenomegaly, Chronic (near) absent circulating IgG4, Reduced i... |
OMIM:614699 |
Tracheobronchomegaly |
|
Recurrent bronchopulmonary infections, Bronchiectasis |
OMIM:275300 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Recurrent respiratory infections, Abnormal neutrophil count, Splenomegaly, Leukocyt... |
ORPHA:3226 |
Factor V Excess With Spontaneous Thrombosis |
|
Pulmonary embolism |
OMIM:134400 |
Pgm3-Cdg |
|
Hemolytic anemia, Failure to thrive, Abnormal proportion of CD8-positive T cells, Eosinophilia, A... |
ORPHA:443811 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... |
OMIM:619041 |
Inflammatory Bowel Disease 13 |
|
Inflammation of the large intestine |
OMIM:612244 |
Inflammatory Bowel Disease (Crohn Disease) 19 |
|
Inflammation of the large intestine |
OMIM:612278 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ... |
ORPHA:35078 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia, Hamartoma |
ORPHA:141152 |
Immunodeficiency 37 |
|
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Colitis, Infectious ence... |
OMIM:616098 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Pneumonia, Spleno... |
OMIM:602450 |
Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
Immunodeficiency, Common Variable, 14 |
|
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Recurrent... |
OMIM:617765 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Eosinophilia, Pneumonia, Increased circulating IgE level, Chronic diarrhea, Atopic dermatitis, Ul... |
OMIM:617638 |
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy |
|
Cryoglobulinemia, Increased circulating beta-2-microglobulin level, Monoclonal immunoglobulin M p... |
ORPHA:209004 |
Hermansky-Pudlak Syndrome 11 |
|
Epistaxis, Reduced platelet dense granules, Menorrhagia, Gingival bleeding, Impaired collagen-ind... |
OMIM:619172 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Impaired n... |
OMIM:608203 |
Immunodeficiency 23 |
|
Hemolytic anemia, Recurrent respiratory infections, Abscess, Eosinophilia, Allergic rhinitis, Ast... |
OMIM:615816 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent respiratory infections, Pneumonia, Asthma, Increased circulating IgE level, T lymphocyt... |
ORPHA:217390 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Decreased circula... |
ORPHA:436159 |
Immunoglobulin A Deficiency 2 |
|
Abnormal lymphocyte morphology |
OMIM:609529 |
Bilateral Striopallidodentate Calcinosis |
|
Hepatomegaly, Abnormality of the liver, Thrombocytopenia, Intrauterine growth retardation |
ORPHA:1980 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Recurrent respiratory infections, Severe short stature, Decreased circulating total IgM, Neutrope... |
ORPHA:2643 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Reduced vital capacity, Elevated circulating creatine kinase concentration, Abnormal respiratory ... |
ORPHA:266 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Increased circulating IgA le... |
OMIM:617099 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Pneumonia |
OMIM:254120 |
Gnathodiaphyseal Dysplasia |
|
Osteopenia, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, Thickened co... |
ORPHA:53697 |
Progressive Multifocal Leukoencephalopathy |
|
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells |
ORPHA:217260 |
Fanconi Anemia, Complementation Group G |
|
Growth delay, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:614082 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia |
OMIM:206400 |
Renal Hypodysplasia/Aplasia 4 |
|
Respiratory failure, Pulmonary hypoplasia |
OMIM:619887 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Pancytopenia, Acne, Elevated circulating C-reactive protein concentration, Microcytic anemia, Elb... |
OMIM:604416 |
Preeclampsia/Eclampsia 1 |
|
Intrauterine growth retardation, Thrombocytopenia |
OMIM:189800 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Recurrent... |
OMIM:617780 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Neutrophilia, Pneumonia, Elevated circulating C-reactive protein concentrat... |
ORPHA:36238 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Failure to thrive, ... |
OMIM:618963 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Respiratory failure, Apnea, Elevated circulating creatine kinase concentration, Respiratory insuf... |
OMIM:613869 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Villous atrophy, Malnutrition, Abnormal intestine morphology, Protracted diarrhea |
OMIM:251850 |
Congenital Factor Ii Deficiency |
|
Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part... |
ORPHA:325 |
Asbestos Intoxication |
|
Reduced vital capacity, Reduced forced vital capacity, Atelectasis, Pleural thickening, Nonproduc... |
ORPHA:2302 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... |
OMIM:607778 |
Pulmonary Venoocclusive Disease 1, Autosomal Dominant |
|
Pulmonary venous occlusion, Abnormally loud pulmonic component of the second heart sound, Interlo... |
OMIM:265450 |
Neurofibromatosis-Noonan Syndrome |
|
Prolonged bleeding time |
ORPHA:638 |
Whim Syndrome 1 |
|
Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating antibody leve... |
OMIM:193670 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased circulating IgG level, Eosinophilia, Pneumonia, Recurrent pneumonia, Hepatitis, Hepatos... |
ORPHA:169160 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Rhizomelia, Thrombocytopenia |
OMIM:166990 |
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis |
ORPHA:280794 |
Mulibrey Nanism |
|
Hepatomegaly, Cachexia |
ORPHA:2576 |
Immunodeficiency 16 |
|
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia |
OMIM:615593 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Respiratory insufficiency due to muscle weakness, Respiratory failure, Elevated circulating creat... |
OMIM:300717 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Delayed ep... |
OMIM:600081 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Perianal abscess, Weight loss, Iron deficiency anemia, Lymphocytosis, Thrombocytosis, Reduced nat... |
OMIM:301074 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory defect, Inter... |
OMIM:620296 |
Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Recurrent bro... |
OMIM:617303 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Elevated circulating creatine kinase concentr... |
ORPHA:90117 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Impaired platelet aggregation, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:300835 |
Spinal Muscular Atrophy, Type I |
|
Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency |
OMIM:253300 |
Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros... |
ORPHA:85188 |
Cln3 Disease |
|
T-wave inversion, Vacuolated lymphocytes, Bradycardia |
ORPHA:228346 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
T lymphocytopenia, Cough, Recurrent aspiration pneumonia, Hepatomegaly, Portal hypertension, Hepa... |
ORPHA:79124 |
Ciliary Dyskinesia, Primary, 7 |
|
Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Restrictive ventilatory defect... |
OMIM:611884 |
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome |
|
Decreased proportion of CD4-positive T cells, Decreased body weight |
ORPHA:477814 |
Chronic Intestinal Pseudoobstruction |
|
Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation, Abnormal platelet morpho... |
ORPHA:2978 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Eosinophilopenia |
|
Decreased eosinophil count |
OMIM:131430 |
Esophagitis, Eosinophilic, 2 |
|
Vomiting, Eosinophilia, Esophagitis, Dysphagia |
OMIM:613412 |
Esophagitis, Eosinophilic, 1 |
|
Vomiting, Eosinophilia, Esophagitis, Dysphagia |
OMIM:610247 |
Immunodeficiency 7 |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Hepatomegaly, Splenomegaly, Hypere... |
OMIM:615387 |
Ciliary Dyskinesia, Primary, 28 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:615505 |
Myeloproliferative Syndrome, Transient |
|
Leukocytosis, Transient myeloproliferative syndrome |
OMIM:159595 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Intractable diarrhea, Arthritis, Villous atrophy, Crypt hyperplasia |
OMIM:613217 |
Sea-Blue Histiocyte Disease |
|
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis |
OMIM:269600 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia, Small bowel diverticula, Fat malabsorption, Jejunoileal ulceration |
OMIM:221400 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia, Increased circulating IgA level |
OMIM:314000 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Anisocytosis, Cardiomegaly, Microvesicular hepatic steatosis, Tachypnea, Hepatocellular necrosis,... |
OMIM:618278 |
Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Eosinophilia, Myeloproliferative disorder |
OMIM:131440 |
Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Epistaxis, Platelet anisocytosis, Increased mean platelet volume |
OMIM:615193 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia |
OMIM:614896 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Recurrent respiratory infections, Elevated circulating C-reactive protein concentration, Follicul... |
OMIM:615934 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Short humerus, Short femur, Hypoplasia of the femoral head, Rhizomelia, Wide distal femoral metap... |
OMIM:619598 |
Paget Disease Of Bone 2, Early-Onset |
|
Bowing of the long bones, Short femur, Hypercalcemia, Fractures of the long bones, Osteolysis, Fe... |
OMIM:602080 |
Metatropic Dysplasia |
|
Camptodactyly of finger, Micromelia, Abnormal enchondral ossification, Joint stiffness, Aplasia/H... |
ORPHA:2635 |
Pyle Disease |
|
Metaphyseal dysplasia, Metaphyseal widening, Hypoplastic frontal sinuses, Genu valgum, Reduced bo... |
OMIM:265900 |
Immunodeficiency 96 |
|
Increased proportion of gamma-delta T cells, Growth delay, Decreased circulating total IgM, Defec... |
OMIM:619774 |
Chylomicron Retention Disease |
|
Diarrhea, Malnutrition, Accumulation of lipid droplets in small-bowel enterocytes, Decreased LDL ... |
OMIM:246700 |
Ichthyosis-Prematurity Syndrome |
|
Eosinophilia |
ORPHA:88621 |
Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
Hip Dysplasia, Beukes Type |
|
Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... |
ORPHA:2114 |
Ciliary Dyskinesia, Primary, 24 |
|
Neonatal respiratory distress, Chronic pulmonary obstruction, Decreased nasal nitric oxide, Bronc... |
OMIM:615481 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Elevated c... |
ORPHA:158061 |
Epiphyseal Dysplasia, Multiple, 5 |
|
Epiphyseal dysplasia, Short metacarpal, Premature osteoarthritis, Coxa vara, Genu valgum, Irregul... |
OMIM:607078 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Generalized lymphadenopathy, Decreased circulating IgG level, Autoimmune thrombocytopenia, Bronch... |
OMIM:614700 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Intrauterine growth retardation, Thrombocytopenia |
OMIM:615010 |
Pulmonary Hemosiderosis |
|
Iron deficiency anemia, Recurrent intrapulmonary hemorrhage, Pulmonary fibrosis, Respiratory insu... |
OMIM:178550 |
Babesiosis |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Recurrent pharyngitis, Respiratory insuff... |
ORPHA:108 |
Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly |
OMIM:619813 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ... |
OMIM:616201 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... |
OMIM:610913 |
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Allerg... |
ORPHA:411696 |
Bile Acid Malabsorption, Primary, 1 |
|
Increased fecal bile acid, Fat malabsorption, Chronic diarrhea, Steatorrhea |
OMIM:613291 |
Mogs-Cdg |
|
Generalized edema, Pulmonary edema, Edema, Polyhydramnios, Decreased circulating antibody level, ... |
ORPHA:79330 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosin... |
OMIM:102700 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Recurrent bronchopulmonary infections, Neutropenia |
ORPHA:90023 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Neutrophilia, Reduction of neutrophil motility |
OMIM:266265 |
Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Femur fracture, Splenomegaly, Recurrent pneumonia, Anemia, D... |
OMIM:612301 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... |
ORPHA:3344 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia |
OMIM:610539 |
Kimura Disease |
|
Lymphadenopathy, Increased circulating IgE level, Eosinophilia, Follicular hyperplasia |
ORPHA:482 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... |
OMIM:610921 |
Avian Influenza |
|
Respiratory distress, Pneumonia, Elevated circulating creatine kinase concentration, Elevated cir... |
ORPHA:454836 |
Thrombocytopenia 5 |
|
Epistaxis, B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia... |
OMIM:616216 |
Immunodeficiency 22 |
|
Decreased circulating IgG level, Abscess, Recurrent upper respiratory tract infections, Anemia, D... |
OMIM:615758 |
Immunodeficiency 92 |
|
Hepatomegaly, Cholangitis, Pneumonia, Leukocytosis, Decreased proportion of class-switched memory... |
OMIM:619652 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Pancytopenia, Respiratory insufficiency, Increased blood urea nitrogen, Anemia, Leu... |
OMIM:613845 |
Systemic Lupus Erythematosus 17 |
|
Autoimmune thrombocytopenia, Leukopenia, Decreased circulating complement C3 concentration, Decre... |
OMIM:301080 |
Reticular Dysgenesis |
|
Abnormality of neutrophils, Decreased circulating antibody level, Weight loss, Leukopenia, Failur... |
ORPHA:33355 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Failure to thrive, Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumo... |
OMIM:242700 |
Spondyloepiphyseal Dysplasia Congenita |
|
Abnormally ossified vertebrae, Short femur, Limited elbow movement, Micrognathia, Abnormal foot m... |
ORPHA:94068 |
Factor X Deficiency |
|
Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,... |
OMIM:227600 |
Long Qt Syndrome 13 |
|
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... |
OMIM:613485 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Recurrent respiratory infections, Hepatomegaly, Failure to thrive, Intermittent thrombocytopenia,... |
OMIM:612541 |
Primary Intestinal Lymphangiectasia |
|
Decreased circulating IgG level, Hypoproteinemia, Peritoneal effusion, Abnormal lymphatic vessel ... |
ORPHA:90362 |
Alpha-2-Plasmin Inhibitor Deficiency |
|
Bruising susceptibility, Joint hemorrhage, Persistent bleeding after trauma, Hemothorax |
OMIM:262850 |
Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
Fetal Parvovirus Syndrome |
|
Thrombocytopenia, Ascites, Anemia, Intrauterine growth retardation |
ORPHA:295 |
Good Syndrome |
|
Abnormal leukocyte morphology, Recurrent respiratory infections, Sinusitis, Mediastinal lymphaden... |
ORPHA:169105 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly, Pathologic fr... |
ORPHA:166277 |
Tempi Syndrome |
|
Transudative pleural effusion, Hypoxemia, Increased circulating IgG level, Increased hematocrit, ... |
ORPHA:284227 |
Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Short stature... |
ORPHA:229717 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
Interstitial Lung Disease 1 |
|
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Res... |
OMIM:619611 |
Fanconi Anemia, Complementation Group V |
|
Short stature, Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Bone marro... |
OMIM:617243 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... |
OMIM:619466 |
Aggressive Systemic Mastocytosis |
|
Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Osteoporosis, Osteolysis, Hepatosple... |
ORPHA:98850 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Ab... |
ORPHA:103910 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatocellular carcinoma, Cough, Splenomegaly, Panacinar emphysema, Dyspnea, Chronic pulmonary ob... |
OMIM:613490 |
Pseudoachondroplasia |
|
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening... |
ORPHA:750 |
Roifman Syndrome |
|
Hip contracture, Epiphyseal dysplasia, Eosinophilia, Delayed proximal femoral epiphyseal ossifica... |
ORPHA:353298 |
Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ... |
OMIM:615237 |
Interstitial Lung Disease 2 |
|
Cough, Dyspnea, Elevated bronchoalveolar lavage fluid neutrophil proportion, Alveolar cell carcin... |
OMIM:178500 |
Essential Thrombocythemia |
|
Prolonged bleeding time, Abnormality of thrombocytes, Abnormal platelet morphology |
ORPHA:3318 |
Wolman Disease |
|
Hepatomegaly, Bone-marrow foam cells, Cachexia, Splenomegaly, Ascites, Anemia |
ORPHA:75233 |
Refractory Celiac Disease |
|
Normocytic anemia, Villous atrophy, Macrocytic anemia, Inflammatory abnormality of the skin, Mala... |
ORPHA:398063 |
Epiphyseal Dysplasia, Multiple, 1 |
|
Epiphyseal dysplasia, Short metacarpal, Pes planus, Joint stiffness, Avascular necrosis of the ca... |
OMIM:132400 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Short humerus, Short femur, Sandal gap, Rhizomelia, Edema, Polyhydramnios, Patent ductus arterios... |
OMIM:607143 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Recu... |
OMIM:263000 |
Pulmonary Venoocclusive Disease 2, Autosomal Recessive |
|
Pulmonary venous occlusion, Dyspnea, Pulmonary capillary hemangiomatosis, Cough, Decreased DLCO, ... |
OMIM:234810 |
Idiopathic Pulmonary Fibrosis |
|
Crackles, Bronchiectasis, Abnormal pulmonary interstitial morphology, Honeycomb lung, Pulmonary f... |
ORPHA:2032 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Acute Lung Injury |
|
Respiratory distress, Increased circulating interleukin 6 concentration, Pneumonia, Elevated circ... |
ORPHA:178320 |
Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Pancytopenia, Short stature, Thrombocytopenia, Bone marrow hypocellularit... |
OMIM:616435 |
Hyperbilirubinemia, Shunt, Primary |
|
Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... |
OMIM:237800 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Failure to thrive in infancy, Hepatomegaly |
OMIM:619175 |
Leukodystrophy, Hypomyelinating, 24 |
|
B lymphocytopenia |
OMIM:619851 |
Inflammatory Bowel Disease 3 |
|
Ulcerative colitis |
OMIM:604519 |
Inflammatory Bowel Disease 21 |
|
Ulcerative colitis |
OMIM:612354 |
Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ... |
OMIM:612567 |
Immunodeficiency 55 |
|
Absent natural killer cells, Lymphopenia, Neutropenia |
OMIM:617827 |
Gray Platelet Syndrome |
|
Splenomegaly, Epistaxis, Abnormality of thrombocytes, Thrombocytopenia |
ORPHA:721 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis |
OMIM:118830 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Abnormality of T cell physiology |
OMIM:308220 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
Neutropenia-Monocytopenia-Deafness Syndrome |
|
Abnormal macrophage morphology, Abnormality of neutrophils |
ORPHA:2690 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Necrotizing Enterocolitis |
|
Shock, Small for gestational age, Leukocytosis, Bradycardia, Hypotension, Neutropenia, Thrombocyt... |
ORPHA:391673 |
Developmental And Epileptic Encephalopathy 71 |
|
Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency |
OMIM:618328 |
Desmoplastic Small Round Cell Tumor |
|
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Testicular neoplasm, Cach... |
ORPHA:83469 |
Congenital Factor Vii Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... |
ORPHA:327 |
Acute Erythroid Leukemia |
|
Pancytopenia, Erythroid hypoplasia, Leukopenia, Bone marrow hypocellularity, Anemia |
ORPHA:318 |
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag |
|
Monoclonal immunoglobulin M proteinemia |
ORPHA:639 |
Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Cachexia, Thromboc... |
ORPHA:824 |
Aicardi-Goutieres Syndrome 4 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Respiratory insufficiency, Hepatosplenomegaly, Intraute... |
OMIM:610333 |
Ciliary Dyskinesia, Primary, 11 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:612649 |
Cranio-Osteoarthropathy |
|
Abnormality of the knee, Joint stiffness, Abnormal tibia morphology, Osteoarthritis, Clubbing of ... |
ORPHA:1525 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Nodular pattern on pulmonary HRCT, Cardiomegaly, Diffuse alveolar hemorrhage, Crack... |
ORPHA:99931 |
Atrial Fibrillation, Familial, 18 |
|
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... |
OMIM:617280 |
Immunodeficiency 40 |
|
Hepatomegaly, Respiratory tract infection, Recurrent pneumonia, Eosinophilic granuloma, Growth de... |
OMIM:616433 |
Pulmonary Hypertension, Primary, 3 |
|
Increased pulmonary vascular resistance, Dyspnea, Elevated pulmonary artery pressure, Pulmonary a... |
OMIM:615343 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Thrombocytopenia, Failure to thrive, Absent circulating B cells |
OMIM:619693 |
Osteogenesis Imperfecta, Type Xxii |
|
Bowing of the long bones, Recurrent fractures, Abnormal circulating calcium concentration, Multip... |
OMIM:619795 |
Lymphangiectasia, Intestinal |
|
Decreased circulating IgG level, Intestinal lymphangiectasia, Lymphopenia, Neonatal hypoproteinemia |
OMIM:152800 |
Nevoid Hypermelanosis, Linear And Whorled |
|
Eosinophilia |
OMIM:614323 |
Eosinophilic Fasciitis |
|
Abnormal eosinophil morphology, Eosinophilia, Weight loss |
ORPHA:3165 |
Forsythe-Wakeling Syndrome |
|
Growth delay, Short stature, Thrombocytopenia |
OMIM:613606 |
Atrial Standstill |
|
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... |
ORPHA:1344 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Abnormal c... |
OMIM:241530 |
Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Recurrent pneumonia... |
OMIM:240500 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Pancytopenia, Decreased circulating antibody level, Restrictive ventilatory defect, Pulmonary fib... |
OMIM:619767 |
Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... |
ORPHA:140896 |
Immunoglobulin A Deficiency 1 |
|
Recurrent infection of the gastrointestinal tract, Decreased circulating IgA level, Malabsorption |
OMIM:137100 |
Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
Familial Nasal Acilia |
|
Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi... |
ORPHA:922 |
Candidiasis, Familial, 1 |
|
Cutaneous anergy |
OMIM:114580 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Neutropenia, Recurrent streptococcus pneumoniae infections |
ORPHA:70592 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Bulging epiphyses, Enlargement of the ankles, Osteomalacia, Recurrent fractures, Bowing of the le... |
OMIM:300554 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Splenomegaly, Lymphadenitis, Rec... |
OMIM:618935 |
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant |
|
Purpura, Pulmonary embolism |
OMIM:612336 |
Encephalopathy Due To Prosaposin Deficiency |
|
Splenomegaly, Recurrent respiratory infections, Respiratory insufficiency, Hepatomegaly |
ORPHA:139406 |
Pontocerebellar Hypoplasia, Type 15 |
|
Thrombocytopenia, Chronic neutropenia, Anemia |
OMIM:619302 |
Generalized Eruptive Histiocytosis |
|
Leukemia, Hypereosinophilia, Lymphadenopathy, Histiocytosis |
ORPHA:157991 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Cutaneous Photosensitivity And Colitis, Lethal |
|
Diarrhea, Colitis |
OMIM:219095 |
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency |
|
Pulmonary embolism |
ORPHA:82 |
Zika Virus Disease |
|
Intrauterine growth retardation, Increased circulating IgM level, Thrombocytopenia |
ORPHA:448237 |
Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, ... |
OMIM:603554 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Abnormal pulmonary interstitial morpholo... |
ORPHA:77259 |
Griscelli Syndrome |
|
Hepatomegaly, Abnormal circulating lipid concentration, Short stature, Abnormality of neutrophils... |
ORPHA:381 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... |
OMIM:617388 |
Necrobiosis Lipoidica |
|
Granuloma, Abnormality of neutrophil physiology |
ORPHA:542592 |
Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Short stature, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocy... |
OMIM:619151 |
Ciliary Dyskinesia, Primary, 45 |
|
Immotile cilia, Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis |
OMIM:618801 |
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome |
|
Neonatal asphyxia, Bronchiectasis, Congenital laryngeal stridor |
ORPHA:2375 |
Autoinflammatory-Pancytopenia Syndrome |
|
Pancytopenia, Membranoproliferative glomerulonephritis, Intestinal inflammation, Chilblains, Chro... |
OMIM:619858 |
Hemangioma-Thrombocytopenia Syndrome |
|
Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:141000 |
Thanatophoric Dysplasia Type 1 |
|
Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Hypoplastic ilia, Abnormal sa... |
ORPHA:1860 |
Ck Syndrome |
|
Micrognathia, Abnormal cortical bone morphology, Pachygyria, Abnormal digit morphology, Polymicro... |
OMIM:300831 |
Diarrhea 9 |
|
Villous atrophy, Diarrhea |
OMIM:618168 |
Griscelli Syndrome, Type 2 |
|
Reduced delayed hypersensitivity, Hemophagocytosis, Hepatosplenomegaly |
OMIM:607624 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Sinusitis, Hypouricemia, Pneumonia, Pure red cell aplasia, Autoimmun... |
OMIM:613179 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Gastroesophageal Reflux |
|
Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis |
OMIM:109350 |
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus |
|
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis |
OMIM:620032 |
Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Central apnea, Respiratory failure, Respiratory insufficiency |
OMIM:611722 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Anterior uveitis, Skin rash, Colitis, Ileal ulcer, Lymphopenia, Thrombocytopenia |
OMIM:616744 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Recurrent respiratory infections, Decreased propor... |
OMIM:606367 |
C1Q Deficiency 2 |
|
Elevated circulating C-reactive protein concentration, Atelectasis, Decreased circulating C1q con... |
OMIM:620321 |
Familial Expansile Osteolysis |
|
Pathologic fracture, Bowing of the long bones, Osteolysis, Thin bony cortex |
OMIM:174810 |
Wolfram Syndrome 2 |
|
Impaired collagen-induced platelet aggregation, Abnormal bleeding, Decreased circulating antibody... |
OMIM:604928 |
Ciliary Dyskinesia, Primary, 32 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... |
OMIM:616481 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Hepatomegaly, Short stature, Anisocytosis, Anemia of inadequate production, Sple... |
OMIM:615631 |
Gorham-Stout Disease |
|
Osteopenia, Abnormal pelvis bone morphology, Osteomyelitis, Edema, Osteolysis involving bones of ... |
ORPHA:73 |
Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Respiratory insuff... |
ORPHA:848 |
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive |
|
Vitreous hemorrhage, Purpura, Pulmonary embolism |
OMIM:612304 |
Atelosteogenesis Type I |
|
Short femur, Rhizomelia, Polyhydramnios, Micrognathia, Abnormal ossification involving the femora... |
ORPHA:1190 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, Hepatosplenomegal... |
OMIM:615122 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Aspiration pneumonia |
OMIM:619477 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Short stature, Abnormality of the tonsils, Abno... |
ORPHA:47 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Subperiost... |
OMIM:264700 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Recurrent fractures, Polyhydramnios, Micrognathia, Limitation of joint mobility, Slender long bon... |
ORPHA:1486 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... |
OMIM:159550 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
Butyrylcholinesterase Deficiency |
|
Respiratory failure requiring assisted ventilation, Respiratory failure |
ORPHA:132 |
Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgG level, Lymphocytosis, Increased B cell count, Decreased circulating IgG... |
ORPHA:3261 |
Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology |
OMIM:615966 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress, Hepatomegaly, Hyperammonemia, Anemia, Growth delay, Neutropenia, Pancreatit... |
ORPHA:289916 |
Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
Left Ventricular Noncompaction 10 |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:615396 |
Hermansky-Pudlak Syndrome 2 |
|
Absent platelet dense granules, Decreased CD4:CD8 ratio, Splenomegaly, Hepatosplenomegaly, Enlarg... |
OMIM:608233 |
Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Increased proportion of exhausted T cells |
OMIM:618307 |
Transaldolase Deficiency |
|
Abnormal respiratory system physiology, Hepatosplenomegaly, Anemia, Abnormal circulating glutamin... |
ORPHA:101028 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Recurrent sinopulmonary infections, Decreased proportion of class-switched memory B cells, Decrea... |
OMIM:614878 |
Diarrhea 12, With Microvillus Atrophy |
|
Villous atrophy, Microvillus inclusions, Abdominal distention, Secretory diarrhea, Bronchiectasis... |
OMIM:619445 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Macrocytic anemia, Hyperammonemia, Respiratory insufficiency, Anemia, Leukopenia, P... |
ORPHA:27 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1 |
|
Pancytopenia, Aplastic anemia, Crackles, Cough, Mediastinal lymphadenopathy, Usual interstitial p... |
OMIM:614742 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Short stature, Autoimmune thrombocytopenia, Desquamative interstitia... |
OMIM:615952 |
Aicardi-Goutieres Syndrome 3 |
|
Thrombocytopenia, Hepatosplenomegaly |
OMIM:610329 |
Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Short femur, Metaphyseal spurs, Recurrent fractures, Polyhydramnios, Patent ductus ar... |
OMIM:618188 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Hepatomegaly, Splenomegaly, Hyperammonemia, Anemia, Neutropenia, Pancreatit... |
ORPHA:79312 |
Bleeding Disorder, Platelet-Type, 20 |
|
Epistaxis, Thrombocytopenia |
OMIM:616913 |
Von Willebrand Disease, Type 2 |
|
Epistaxis, Thrombocytopenia |
OMIM:613554 |
Vitamin D-Dependent Rickets, Type 2A |
|
Thin bony cortex, Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of th... |
OMIM:277440 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Neonatal respiratory distress, Atelectasis, Dyspnea, Tachypnea, Pulmonary e... |
OMIM:267450 |
Ciliary Dyskinesia, Primary, 35 |
|
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Decreased nasal nitric oxid... |
OMIM:617092 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Intermittent jaundice, Reticulocytosis |
OMIM:179700 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hepatomegaly, Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Abnormalit... |
ORPHA:540 |
Galactose Epimerase Deficiency |
|
Splenomegaly, Jaundice, Weight loss, Hepatomegaly |
ORPHA:79238 |
Ciliary Dyskinesia, Primary, 26 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:615500 |
Papa Syndrome |
|
Increased inflammatory response, Myositis, Acne, Pustule, Arthritis, Increased circulating antibo... |
ORPHA:69126 |
Atelis Syndrome 1 |
|
Decreased lymphocyte proliferation in response to anti-CD3, Bronchiectasis, Anemia, Leukopenia, T... |
OMIM:620184 |
Rosaï-Dorfman Disease |
|
Dysgammaglobulinemia, Anemia, Lymphadenopathy |
ORPHA:158014 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Anemia, Pulmonary fibrosis, Emphysema, Lymphopenia, Thrombocytopenia |
OMIM:620365 |
Folate Malabsorption, Hereditary |
|
Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia |
OMIM:229050 |
Ciliary Dyskinesia, Primary, 43 |
|
Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br... |
OMIM:618699 |
Ciliary Dyskinesia, Primary, 34 |
|
Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, Decreased nasal nit... |
OMIM:617091 |
Ciliary Dyskinesia, Primary, 25 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Productive cough, Chronic pulmon... |
OMIM:615482 |
Osteogenesis Imperfecta, Type X |
|
Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Rhizomelia, Micromelia, Microgna... |
OMIM:613848 |
Grant Syndrome |
|
Bowing of the long bones, Micrognathia, Decreased skull ossification, Joint hyperflexibility, Abn... |
ORPHA:2097 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum... |
ORPHA:2590 |
Chromosome 5Q Deletion Syndrome |
|
Erythroid hypoplasia, Anemia of inadequate production, Refractory macrocytic anemia |
OMIM:153550 |
Burkitt Lymphoma |
|
Decreased proportion of CD4-positive helper T cells, Abnormality of the spleen, Gastrointestinal ... |
ORPHA:543 |
Diarrhea 11, Malabsorptive, Congenital |
|
Villous atrophy, Diarrhea |
OMIM:618662 |
Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia |
OMIM:615008 |
Ciliary Dyskinesia, Primary, 16 |
|
Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Chronic otitis media, Ciliary dyskin... |
OMIM:614017 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Dyspnea, Reticulocytopenia, Lymphadenopathy, Bone marrow hypo... |
ORPHA:101096 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Impaired platelet aggregation |
OMIM:618372 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in... |
ORPHA:60032 |
Felty Syndrome |
|
Hepatomegaly, Recurrent respiratory infections, Sinusitis, Splenomegaly, Recurrent pharyngitis, R... |
ORPHA:47612 |
Common Variable Immunodeficiency |
|
Hemolytic anemia, Recurrent respiratory infections, Pneumonia, Autoimmune thrombocytopenia, Splen... |
ORPHA:1572 |
Prolidase Deficiency |
|
Hepatomegaly, Chronic lung disease, Splenomegaly, Asthma, Recurrent pneumonia, Anemia, Increased ... |
OMIM:170100 |
Immunodeficiency, Common Variable, 4 |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:613494 |
Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... |
ORPHA:3348 |
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia |
|
Cutaneous mastocytosis, Micrognathia, Short foot, Joint contracture of the 5th finger, Clinodacty... |
OMIM:248910 |
Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Elevated circulating creatine kinase concentration, Respiratory insufficien... |
OMIM:614399 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hepatomegaly, Hypertriglyceridemia, Sinusitis, Splenomegaly, Lymphadenopathy, Anemia, Increased c... |
OMIM:617591 |
Agammaglobulinemia, X-Linked |
|
Hepatocellular carcinoma, Enteroviral hepatitis, Wheezing, Recurrent pneumonia, Bronchiectasis, B... |
OMIM:300755 |
Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
Japanese Encephalitis |
|
Hyponatremia, Stiff neck, Genu recurvatum, Neutrophilia, Elbow flexion contracture, Increased cir... |
ORPHA:79139 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:301081 |
Congenital Factor X Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... |
ORPHA:328 |
Ciliary Dyskinesia, Primary, 5 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Recurrent pneumonia, Bronchiecta... |
OMIM:608647 |
Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Hyperse... |
ORPHA:79127 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Colitis, Hypoalbuminemia |
ORPHA:88643 |
Ciliary Dyskinesia, Primary, 17 |
|
Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media... |
OMIM:614679 |
Roch-Leri Mesosomatous Lipomatosis |
|
Thrombocytopenia |
ORPHA:529 |
Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Neonatal respiratory distress, Apnea, Dyspnea, Desquamative interstitial pneumonitis, Tachypnea, ... |
OMIM:265120 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
Lymphedema, Primary, With Myelodysplasia |
|
Acute myeloid leukemia, Pancytopenia, Decreased CD4:CD8 ratio, Leukemia |
OMIM:614038 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Increased mitochondrial number, Protein-losing enteropathy, Hyperglycinemia |
OMIM:619063 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... |
OMIM:206100 |
Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Abnormal circulating protein concentration, Anemia of inadequate producti... |
ORPHA:86839 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly, Jaundice, Lymphadenopathy, Anemia, Intrauterine growth retardation, A... |
ORPHA:858 |
Panbronchiolitis, Diffuse |
|
Crackles, Rhonchi, Wheezing, Bronchiectasis, Hypoxemia, Cough |
OMIM:604809 |
Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
Muscular Dystrophy, Congenital, 1B |
|
Respiratory failure, Elevated circulating creatine kinase concentration |
OMIM:604801 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal pseudo-obstruction, Intestinal malrotation, Increased mean platelet volume, Feeding di... |
OMIM:300048 |
Small Bowel Atresia |
|
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Abdominal distention, Feeding dif... |
ORPHA:1201 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent respiratory infections, Pancytopenia, Autoimmune hemolytic anemia, Sinusitis, Chronic h... |
ORPHA:572 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... |
ORPHA:67044 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Recurrent respiratory infections, Hepatosplenomegaly, Anemia, Leukopenia, I... |
ORPHA:505248 |
Pancreatic Lipase Deficiency |
|
Fat malabsorption, Hypocholesterolemia, Steatorrhea |
OMIM:614338 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Recurrent respiratory infections, Lung abscess, Pneumonia, Dyspnea, Intraalveolar phospholipid ac... |
OMIM:610910 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Nasal flaring, ... |
ORPHA:70587 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormal lung morphology... |
ORPHA:54251 |
Pontocerebellar Hypoplasia, Type 1C |
|
Respiratory failure, Respiratory insufficiency |
OMIM:616081 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Pes planus, Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Micrognat... |
OMIM:147891 |
Hermansky-Pudlak Syndrome 8 |
|
Epistaxis, Excessive bleeding after a venipuncture, Menorrhagia, Gingival bleeding, Excessive ble... |
OMIM:614077 |
Atelosteogenesis Type Ii |
|
Micromelia, Micrognathia, Polyhydramnios, Short phalanx of finger, Hypoplastic cervical vertebrae... |
ORPHA:56304 |
Ivic Syndrome |
|
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab... |
OMIM:147750 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Splenomegaly, Weight loss, Lymphadenopathy, Hepatomegaly |
ORPHA:86893 |
Phosphoglycerate Dehydrogenase Deficiency |
|
Growth delay, Decreased testicular size, Thrombocytopenia, Megaloblastic anemia |
OMIM:601815 |
Pancreatic Colipase Deficiency |
|
Megaloblastic anemia, Chronic diarrhea, Steatorrhea, Fat malabsorption, Exocrine pancreatic insuf... |
ORPHA:309108 |
Brucellosis |
|
Liver abscess, Bronchitis, Elevated circulating C-reactive protein concentration, Leukopenia, Abn... |
ORPHA:1304 |
Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Recurrent respiratory infections, Autoimmune thrombocytopenia, Chronic decreased ci... |
OMIM:613496 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgE level, Hepatitis, Lymphadeno... |
OMIM:304790 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Bronchiectasis, Eosinophilia, Increased circulating IgE level |
OMIM:618523 |
Dent Disease 1 |
|
Bulging epiphyses, Enlargement of the ankles, Osteomalacia, Recurrent fractures, Bowing of the le... |
OMIM:300009 |
Congenital Myopathy 21 With Early Respiratory Failure |
|
Elevated circulating creatine kinase concentration, Dyspnea, Lipoid pneumonia, Respiratory failur... |
OMIM:620326 |
Angiostrongyliasis |
|
Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ... |
ORPHA:74 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, B lymphoc... |
ORPHA:221139 |
Diencephalic Syndrome |
|
Cachexia, Decreased body weight |
ORPHA:1672 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased proportion of CD4-positive T cells, Hepatomegaly, Jaundice, Micronodular cirrhosis, Dec... |
OMIM:301045 |
Emphysema, Hereditary Pulmonary |
|
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis |
OMIM:130700 |
Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Severe short stature, Growth delay, Respiratory failure, Aspiratio... |
OMIM:619057 |
Juvenile Temporal Arteritis |
|
Leukocytosis, Eosinophilia |
ORPHA:26137 |
Rigid Spine Syndrome |
|
Abnormality on pulmonary function testing, Cardiac conduction abnormality, Pneumonia, Respiratory... |
ORPHA:97244 |
Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Elevated pulmonary artery pressure, Pulmonary edema |
OMIM:178400 |
Epidermolysis Bullosa Acquisita |
|
Inflammation of the large intestine, Abdominal pain |
ORPHA:46487 |
Sepsis In Premature Infants |
|
Tachycardia, Small for gestational age, Splenomegaly, Leukocytosis, Anemia, Bradycardia, Hypotens... |
ORPHA:90051 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphopenia, Hypoproteinemia, Decreased circulating antibody level |
ORPHA:1116 |
Bare Lymphocyte Syndrome, Type I |
|
Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Chronic otitis media, Recurrent bron... |
OMIM:604571 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Recurrent respiratory infections, Decreased proportion of marginal zone B cells, Au... |
OMIM:619375 |
Cyclic Neutropenia |
|
Cyclic neutropenia, Respiratory tract infection, Perianal abscess, Cervical lymphadenopathy, Peri... |
ORPHA:2686 |
Ciliary Dyskinesia, Primary, 15 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Wheezing, Re... |
OMIM:613808 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Small for gestational age, Normochromic anemia, Bradycardia, Hypert... |
OMIM:618775 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Failure to thrive, Cachexia, Weight loss |
OMIM:612075 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Hepatomegaly, Short stature, Elevated circulating creatine kinase concentration, Growth delay, Th... |
OMIM:614727 |
Chronic Beryllium Disease |
|
Lymphocytic interstitial pneumonia, Hypersensitivity pneumonitis, Dyspnea, Abnormality on pulmona... |
ORPHA:133 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Reduced natural killer cell activ... |
OMIM:603553 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Ileal atresia, Bloody diarrhea, Hypoplasia of the thymus, Psoriasiform dermatitis, Leukocytosis, ... |
OMIM:243150 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Autoimmune thrombocy... |
ORPHA:100026 |
Pseudo-Torch Syndrome 3 |
|
Apnea, Cardiomegaly, Lymphadenitis, Leukocytosis, Increased circulating ferritin concentration, R... |
OMIM:618886 |
Nephronophthisis |
|
Anemia |
ORPHA:655 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting |
OMIM:142623 |
Junctional Epidermolysis Bullosa Inversa |
|
Anemia, Gastrointestinal inflammation |
ORPHA:79405 |
Ciliary Dyskinesia, Primary, 12 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... |
OMIM:612650 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Cachexia, Weight loss |
OMIM:613662 |
Congenital Alpha2-Antiplasmin Deficiency |
|
Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingival bleeding,... |
ORPHA:79 |
Vascular Hyalinosis |
|
Hematochezia, Diarrhea, Protein-losing enteropathy, Malabsorption |
OMIM:277175 |
Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Esophageal stenosis, Decreased circulating antibody level, Leukopenia, Colitis, Bone marrow hypoc... |
OMIM:615190 |
Inflammatory Bowel Disease 11 |
|
Hematochezia, Inflammation of the large intestine, Diarrhea, Abdominal pain |
OMIM:191390 |
Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... |
OMIM:617237 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia |
OMIM:611938 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Enlargement of the ankles, Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone ... |
ORPHA:289157 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
Igg4-Related Aortitis |
|
Increased circulating IgG4 level, Elevated circulating C-reactive protein concentration, Asthma, ... |
ORPHA:449400 |
Aspergillosis |
|
Sinusitis, Eosinophilia, Pneumonia, Cough, Hypersensitivity pneumonitis, Dyspnea, Increased circu... |
ORPHA:1163 |
Giant platelet syndrome with thrombocytopenia |
|
Giant platelets, Thrombocytopenia |
OMIM:137560 |
Peeling Skin Syndrome 1 |
|
Asthma, Increased circulating IgE level, Short stature, Eosinophilia |
OMIM:270300 |
Pulmonary Hypertension, Primary, 4 |
|
Pulmonary arterial hypertension with lack of acute response to NO challenge, Atrial flutter, Firs... |
OMIM:615344 |
Graft Versus Host Disease |
|
Skeletal muscle atrophy, Myositis, Fasciitis, Gastrointestinal inflammation, Vomiting, Acute hepa... |
ORPHA:39812 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Hypertrophic cardiomyopathy, Failure to thrive, Bradycardia, Cardiac arrest |
OMIM:618235 |
Combined Deficiency Of Factor V And Factor Viii |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:35909 |
Hemophagocytic Syndrome Associated With An Infection |
|
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin co... |
ORPHA:158048 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Anorexia, Malabsorption, Abdominal pain, Diarrhea, Xerostomia, Hamartomatous polyposis, Hematoche... |
OMIM:175500 |
Florid Cemento-Osseous Dysplasia |
|
Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno... |
ORPHA:83451 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Tachycardia, Crazy pavi... |
ORPHA:264675 |
Transcobalamin Ii Deficiency |
|
Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased... |
OMIM:275350 |
Femoral-Facial Syndrome |
|
Short femur, Micrognathia, Abnormal fibula morphology, Coxa vara, Abnormal pelvic girdle bone mor... |
ORPHA:1988 |
Ebola Hemorrhagic Fever |
|
Acute pancreatitis, Dyspnea, Hepatitis, Leukopenia, Increased circulating antibody level, Cough, ... |
ORPHA:319218 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Recu... |
OMIM:618849 |
Moynahan Syndrome |
|
Cachexia |
ORPHA:2574 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Respiratory insufficiency, Anemia, Pulmonary ... |
OMIM:617021 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormality of the spleen, Abnormal mesentery morphology, Cachexia |
ORPHA:93941 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Subcutaneous hemorrhage, Macrothrombocytopenia, Decreased platelet glycoprotein Ib, Thrombocytope... |
OMIM:603585 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
Drug-Induced Lupus Erythematosus |
|
Decreased circulating complement C4 concentration, Elevated circulating creatine kinase concentra... |
ORPHA:231111 |
Asthma, Short Stature, And Elevated Iga |
|
Asthma, Short stature, Increased circulating IgA level |
OMIM:208600 |
Thrombotic Thrombocytopenic Purpura |
|
Reticulocytosis, Dyspnea, Microangiopathic hemolytic anemia, Decreased serum creatinine, Thromboc... |
ORPHA:54057 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Increased circulating IgG level, Leukocytosis |
ORPHA:206594 |
Majeed Syndrome |
|
Hepatomegaly, Cachexia, Congenital hypoplastic anemia, Splenomegaly, Leukocytosis, Hypochromic mi... |
ORPHA:77297 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Increased circ... |
OMIM:616860 |
Congenital Myopathy 14 |
|
Respiratory insufficiency due to muscle weakness, Respiratory failure, Abnormal circulating creat... |
OMIM:618414 |
Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Decreased proportion of naive T cells, Elevated circulating C-reactive protein c... |
OMIM:619381 |
Hereditary Folate Malabsorption |
|
Recurrent respiratory infections, Pancytopenia, Eosinophilia, Megaloblastic anemia, Decreased cir... |
ORPHA:90045 |
Sneddon Syndrome |
|
Decreased circulating total IgM, Lymphopenia |
OMIM:182410 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... |
OMIM:615234 |
Bone Marrow Failure Syndrome 5 |
|
Short stature, Pure red cell aplasia, Erythroid hypoplasia, Decreased circulating antibody level,... |
OMIM:618165 |
Hepatoportal Sclerosis |
|
Portal hypertension, Nodular regenerative hyperplasia of liver, Hypersplenism, Splenomegaly, Port... |
ORPHA:64743 |
Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly |
OMIM:615085 |
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Short stature, Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulatin... |
OMIM:615139 |
Myopathy, Myofibrillar, 1 |
|
Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restrictive cardiomyopa... |
OMIM:601419 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Intrauterine growth retardation, Pulmonary arterial hypertension, Thrombocy... |
OMIM:619751 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
Rhabdoid Tumor |
|
Hypercalcemia, Respiratory insufficiency, Lymphadenopathy, Anemia, Neoplasm of the liver, Thrombo... |
ORPHA:69077 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Increased serum pyruvate, Respiratory failure |
OMIM:616794 |
Selective Igm Deficiency |
|
Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Decreased propo... |
ORPHA:331235 |
Sitosterolemia 1 |
|
Reticulocytosis, Hyperapobetalipoproteinemia, Reduced haptoglobin level, Thrombocytopenia, Spleno... |
OMIM:210250 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Eosinophilia, Increased circulating IgE level, Recurrent pneu... |
OMIM:147060 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:1832 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Lymphopenia |
OMIM:207731 |
Gaucher Disease, Type Iii |
|
Hepatomegaly, Pancytopenia, Short stature, Splenomegaly, Thrombocytopenia |
OMIM:231000 |
Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Growth delay, Anemia |
OMIM:611490 |
Immunodeficiency 61 |
|
Recurrent respiratory infections, Decreased circulating IgG4 level, Agammaglobulinemia, Decreased... |
OMIM:300310 |
Multiple Myeloma |
|
Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated circulating creatinine con... |
ORPHA:29073 |
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617173 |
Ghosal Hematodiaphyseal Dysplasia |
|
Refractory anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:231095 |
Simple Cryoglobulinemia |
|
Viral hepatitis, Monoclonal elevation of circulating IgA, Abnormal lung morphology, Paraproteinem... |
ORPHA:91139 |
Microlissencephaly |
|
Pneumonia |
ORPHA:1083 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Short stature, Elevated circulating C-reactive protein concentration, Microcytic anemia, Asthma, ... |
OMIM:619750 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Short stature, Splenomegaly, Jaundice, Anemia, Intrauterine growth retardation, Abn... |
ORPHA:290 |
Ataxia-Telangiectasia |
|
Recurrent respiratory infections, Short stature, Abnormal testis morphology, Polycystic ovaries, ... |
ORPHA:100 |
Adult Acute Respiratory Distress Syndrome |
|
Increased circulating interleukin 6 concentration, Pneumonia, Dyspnea, Abnormal circulating inter... |
ORPHA:70578 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Anemia |
OMIM:611283 |
Waldenström Macroglobulinemia |
|
Normocytic anemia, Hepatomegaly, Cryoglobulinemia, Epistaxis, Abnormality of neutrophils, Splenom... |
ORPHA:33226 |
Omenn Syndrome |
|
Hepatomegaly, Failure to thrive, Eosinophilia, Pneumonia, Splenomegaly, Leukocytosis, Lymphadenop... |
ORPHA:39041 |
Hypoplastic Femurs And Pelvis |
|
Short femur, Hypoplastic pelvis |
OMIM:619545 |
Late-Onset Junctional Epidermolysis Bullosa |
|
Anemia, Gastrointestinal inflammation |
ORPHA:79406 |
Caffey Disease |
|
Joint hypermobility, Bowing of the legs, Periosteal thickening of long tubular bones, Tibial bowi... |
OMIM:114000 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia |
OMIM:616738 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Failure to thrive, Hepatic steatosis |
OMIM:614480 |
X-Linked Sideroblastic Anemia |
|
Abnormality of iron homeostasis, Splenomegaly, Anemia, Dyspnea |
ORPHA:75563 |
Hemochromatosis, Type 3 |
|
Cardiomyopathy, Lymphopenia, Anemia, Neutropenia |
OMIM:604250 |
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Epistaxis, Anemia of inadequate production, Acanthocytosis, Poikilocytosis, Congenital thrombocyt... |
OMIM:300367 |
Immunodeficiency 108 With Autoinflammation |
|
Hyposegmentation of neutrophil nuclei, Impaired neutrophil chemotaxis |
OMIM:260570 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Oste... |
ORPHA:289176 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Splenomegaly, Fetal ascites, Hepatomegaly |
OMIM:619462 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Recurrent respiratory infections, Perianal abscess, Leukocytosis, Increased circulating IgE level... |
OMIM:618213 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Villous atrophy, Duodenitis, Pustule, Increased circulating IgE level, Bloody diarrhea, Erythrode... |
OMIM:614328 |
Tyrosinemia Type 1 |
|
Splenomegaly, Hepatocellular carcinoma, Hepatomegaly |
ORPHA:882 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... |
OMIM:617300 |
Bloom Syndrome |
|
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Abscess, Bronchitis, Pneumo... |
ORPHA:125 |
Niemann-Pick Disease, Type C2 |
|
Hepatomegaly, Neonatal respiratory distress, Fetal ascites, Bone-marrow foam cells, Splenomegaly,... |
OMIM:607625 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Severe B lymphocytopenia, Hepatic fibrosis, Cough, Intrauterine growth retardation, Decreased cir... |
OMIM:620005 |
Relapsing Fever |
|
Neutrophilia, Epistaxis, Elevated circulating C-reactive protein concentration, Leukocytosis, Jau... |
ORPHA:91547 |
Cronkhite-Canada Syndrome |
|
Splenomegaly, Cachexia, Anemia, Hepatomegaly |
ORPHA:2930 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increa... |
OMIM:267700 |
Chilblain Lupus |
|
Asthma, Increased circulating antibody level, Chronic myelomonocytic leukemia |
ORPHA:90280 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia |
OMIM:598500 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... |
ORPHA:3202 |
Dentinogenesis Imperfecta |
|
Prolonged bleeding time, Bruising susceptibility |
ORPHA:49042 |
Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti... |
ORPHA:244 |
Melnick-Needles Syndrome |
|
Craniofacial hyperostosis, Bowing of the long bones, Recurrent respiratory infections, Coxa valga... |
ORPHA:2484 |
Sea-Blue Histiocytosis |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia |
ORPHA:158029 |
Mevalonic Aciduria |
|
Normocytic hypoplastic anemia, Short stature, Elevated circulating creatine kinase concentration,... |
OMIM:610377 |
Wt Limb-Blood Syndrome |
|
Pancytopenia, Cryptorchidism, Leukemia, Hypoplastic anemia, Thrombocytopenia |
OMIM:194350 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
Mastocytosis, Cutaneous |
|
Cutaneous mastocytosis, Edema |
OMIM:154800 |
Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Hepatomegaly, Decreased circulating copper concentration, Sp... |
OMIM:300972 |
Isovaleric Acidemia |
|
Leukopenia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:243500 |
Achondroplasia |
|
Brachydactyly, Radial bowing, Short femur, Limited hip extension, Rhizomelia, Bowing of the legs,... |
OMIM:100800 |
Gaucher Disease, Type I |
|
Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Dyspnea, Abnormal pulmonary i... |
OMIM:230800 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... |
OMIM:300291 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Thrombocytopenia, Pleuritis, Leukopenia |
OMIM:152700 |
Sarcoidosis, Susceptibility To, 2 |
|
Erythema nodosum, Dyspnea, Pneumothorax, Bronchiectasis, Uveitis, Abnormal pulmonary interstitial... |
OMIM:612387 |
Icf Syndrome |
|
Recurrent respiratory infections, Short stature, Abnormality of neutrophils, Decreased circulatin... |
ORPHA:2268 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilic liver infiltration, Eosinophilia, Hepatosplenomegaly, Failure to thrive, Hepatic cysts |
OMIM:618999 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Hepatomegaly, Thrombocytopenia, Splenomegaly, Jaundice... |
OMIM:214500 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Yellow Nail Syndrome |
|
Recurrent respiratory infections, Renal neoplasm, Sinusitis, Dyspnea, Bronchiectasis, Neoplasm of... |
ORPHA:662 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... |
ORPHA:254875 |
Galactosemia Iii |
|
Splenomegaly, Jaundice, Failure to thrive, Hepatomegaly |
OMIM:230350 |
Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Respiratory distress, Respiratory insuffi... |
OMIM:615512 |
Hypercholanemia, Familial 1 |
|
Fat malabsorption, Increased serum bile acid concentration, Steatorrhea |
OMIM:607748 |
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Respiratory failure, Short stature |
OMIM:600561 |
Hemochromatosis, Type 2B |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... |
OMIM:613313 |
Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Hypercalcemia, Anemia, Ascites, Thrombocytopenia |
ORPHA:2123 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Splenomegaly, Respiratory insufficiency, Aplasia/Hypoplasia of the lungs, Ascites, Anemia |
ORPHA:1046 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Congestive heart failure, Failure to thrive, Bradycardia |
OMIM:619048 |
Ciliary Dyskinesia, Primary, 38 |
|
Neonatal respiratory distress, Productive cough, Decreased nasal nitric oxide, Bronchiectasis, Im... |
OMIM:618063 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Internal hemorrhage |
ORPHA:90308 |
Ciliary Dyskinesia, Primary, 14 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Wheezing, Re... |
OMIM:613807 |
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency |
|
Abnormal bleeding, Prolonged prothrombin time, Epistaxis |
OMIM:610842 |
High Altitude Pulmonary Edema |
|
Leukocytosis, Pulmonary edema |
ORPHA:330012 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cel... |
OMIM:278000 |
Self-Improving Dystrophic Epidermolysis Bullosa |
|
Anemia, Gastrointestinal inflammation |
ORPHA:79411 |
Ciliary Dyskinesia, Primary, 30 |
|
Recurrent respiratory infections, Chronic bronchitis, Asthma, Bronchiectasis, Respiratory insuffi... |
OMIM:616037 |
Schimke Immunoosseous Dysplasia |
|
Pancytopenia, Abnormal immunoglobulin level, Bilateral cryptorchidism, Dyspnea, Disproportionate ... |
OMIM:242900 |
Follicular Lymphoma |
|
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weigh... |
ORPHA:545 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Pes planus, Thin bony cortex, Rhizomelia, Femoral bowing, Short 4th metacarpal, Broad thumb, Shor... |
OMIM:619638 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Pseudomyxoma Peritonei |
|
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Inflammation of the large intestine,... |
ORPHA:26790 |
Ciliary Dyskinesia, Primary, 19 |
|
Recurrent respiratory infections, Bronchiectasis, Immotile cilia, Rhinitis, Respiratory insuffici... |
OMIM:614935 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
Atelosteogenesis, Type I |
|
Polyhydramnios, Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypopl... |
OMIM:108720 |
Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl... |
ORPHA:60041 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Increased circulating ferritin concentration, Hypochromic microcytic anemia, Growth delay, Respir... |
ORPHA:3240 |
Insulin Autoimmune Syndrome |
|
Increased circulating antibody level, Weight loss |
ORPHA:411593 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Pulmonary embolism, Decreased circulating antibody level, Growth delay, Iron defici... |
OMIM:226300 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Abnormality of thrombocytes, Epistaxis, Splenomegaly,... |
OMIM:612840 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Short stature, Splenomegaly, Leukocytos... |
OMIM:259720 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Sézary Syndrome |
|
Hepatomegaly, Abnormal pleura morphology, Abnormal immunoglobulin level, Splenomegaly, Lymphadeno... |
ORPHA:3162 |
Ciliary Dyskinesia, Primary, 13 |
|
Bronchiectasis, Immotile cilia, Recurrent sinusitis, Recurrent otitis media, Ciliary dyskinesia, ... |
OMIM:613193 |
Noonan Syndrome 12 |
|
Lymphopenia, Decreased response to growth hormone stimulation test, Thrombocytopenia |
OMIM:618624 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Epistaxis, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Thr... |
ORPHA:88 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... |
ORPHA:217563 |
Proteus Syndrome |
|
Splenomegaly, Mandibular hyperostosis, Hypertrophy of skin of soles, Calvarial hyperostosis, Faci... |
OMIM:176920 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Chronic mucocutaneous candidiasis, ... |
OMIM:209920 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Neonatal asphyxia, Wheezing, Atelectasis, Pneumothorax, Hypoxemia, Abnormal... |
ORPHA:70588 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Mild postnatal growth retardation, Anemia of ina... |
OMIM:224120 |
Rothmund-Thomson Syndrome Type 2 |
|
Osteopenia, Aplastic anemia, Facial edema, Patellar hypoplasia, Neutropenia, Short phalanx of fin... |
ORPHA:221016 |
Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
Autosomal Recessive Primary Microcephaly |
|
Pachygyria, Gray matter heterotopia, Abnormal cortical bone morphology |
ORPHA:2512 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Broad femoral neck, Short tubular bones of the hand, ... |
ORPHA:85184 |
Rothmund-Thomson Syndrome |
|
Osteopenia, Abnormal trabecular bone morphology, Calcinosis, Hypoplasia of the ulna, Plantar hype... |
ORPHA:2909 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Hypomethioninemia, Cryptorchidism, Tachypnea, Hyperhomocystinemia, Growth... |
OMIM:614857 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Short stature, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Cholestasis, ... |
OMIM:620010 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly |
OMIM:610293 |
Total Anomalous Pulmonary Venous Return 1 |
|
Recurrent respiratory infections, Total anomalous pulmonary venous return, Pulmonary arterial hyp... |
OMIM:106700 |
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Purpura, Cerebral hemorrhage, Pulmonary embolism |
OMIM:614514 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Decreased circulating anti... |
OMIM:601495 |
Systemic Capillary Leak Syndrome |
|
Pleural effusion, Leukocytosis, Pedal edema, Pulmonary edema |
ORPHA:188 |
Gaucher Disease Type 2 |
|
Respiratory distress, Recurrent respiratory infections, Hepatomegaly, Splenomegaly, Cough, Abnorm... |
ORPHA:77260 |
Glut1 Deficiency Syndrome 2 |
|
Splenomegaly, Hemolytic anemia, Reduced haptoglobin level, Reticulocytosis |
OMIM:612126 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Increased circulating interleukin 6 concentration, Elevated circulating creatinine concentration,... |
ORPHA:542323 |
Lujo Hemorrhagic Fever |
|
Shock, Myocarditis, Leukocytosis, Subconjunctival hemorrhage, Leukopenia, Bradycardia, Hypotensio... |
ORPHA:319213 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
Aicardi-Goutieres Syndrome 5 |
|
Thrombocytopenia, Increased circulating interferon-gamma concentration |
OMIM:612952 |
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome |
|
Aspiration pneumonia |
OMIM:609528 |
Long Qt Syndrome 16 |
|
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia |
OMIM:618782 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
Congenital Enterovirus Infection |
|
Respiratory distress, Abnormal macrophage morphology, Fetal ascites, Leukocytosis, Hepatitis, Cho... |
ORPHA:292 |
Hemochromatosis, Type 5 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... |
OMIM:615517 |
Retinal Dystrophy And Microvillus Inclusion Disease |
|
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc... |
OMIM:619446 |
Hermansky-Pudlak Syndrome 1 |
|
Prolonged bleeding time, Epistaxis, Hematochezia, Gingival bleeding, Ecchymosis, Bruising suscept... |
OMIM:203300 |
Propionic Acidemia |
|
Hepatomegaly, Pancytopenia, Short stature, Apnea, Tachypnea, Hyperammonemia, Anemia, Hyperglycine... |
OMIM:606054 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Short stature, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Acholic stool... |
OMIM:619868 |
Pulmonary Hypertension, Primary, 2 |
|
Increased pulmonary vascular resistance, Pulmonary arterial hypertension, Abnormally loud pulmoni... |
OMIM:615342 |
Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Multiple pulmonary cysts, Pulmonary cyst, Abscess, ... |
ORPHA:400 |
Sandifer Syndrome |
|
Torticollis, Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagit... |
ORPHA:71272 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Elevated circulating acylcarnitine concentration, Tachypnea, Respiratory failure, Abnormal circul... |
OMIM:615838 |
Cinca Syndrome |
|
Eosinophilia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Anemia |
OMIM:607115 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... |
OMIM:266200 |
Vulvovaginal Gingival Syndrome |
|
Abnormality of tumor necrosis factor secretion |
ORPHA:83453 |
Specific Granule Deficiency 2 |
|
Absent neutrophil specific granules, Recurrent pneumonia, Anemia, Neutropenia, Thrombocytopenia |
OMIM:617475 |
Rothmund-Thomson Syndrome Type 1 |
|
Osteopenia, Abnormal trabecular bone morphology, Calcinosis, Short metacarpal, Plantar hyperkerat... |
ORPHA:221008 |
Juvenile Polyposis Syndrome |
|
Neoplasm of the stomach, Abdominal pain, Rectal prolapse, Diarrhea, Multiple gastric polyps, Hema... |
OMIM:174900 |
Mednik Syndrome |
|
Decreased circulating copper concentration, Decreased circulating ceruloplasmin concentration, Ab... |
ORPHA:171851 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... |
ORPHA:92050 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233710 |
Preeclampsia |
|
Elevated circulating creatinine concentration, Polycystic ovaries, Abnormality of the hepatic vas... |
ORPHA:275555 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Eosinophilia, Recurrent pneumonia, Increased circulating IgE le... |
OMIM:618282 |
Hepatic Veno-Occlusive Disease |
|
Respiratory failure, Increased total bilirubin |
ORPHA:890 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple... |
ORPHA:232 |
Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Elevated circulating C-reactive protein concentration, Abdominal pain, Diarrhea, Colitis, Anoperi... |
OMIM:613960 |
Ciliary Dyskinesia, Primary, 22 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:615444 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Cachexia |
ORPHA:157973 |
Familial Mediterranean Fever |
|
Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, Abdominal pain... |
OMIM:249100 |
Aredyld Syndrome |
|
Splenomegaly, Cachexia, Hepatomegaly |
ORPHA:1133 |
Diamond-Blackfan Anemia 9 |
|
Growth delay, Anemia |
OMIM:613308 |
Rift Valley Fever |
|
Jaundice, Hepatitis, Anemia, Increased circulating IgG level, Increased circulating IgM level, Th... |
ORPHA:319251 |
Complement Factor B Deficiency |
|
Peritonitis, Pneumonia |
OMIM:615561 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Atelectasis, Chronic sinusitis, Recurrent bronchitis |
OMIM:300455 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Heme Oxygenase 1 Deficiency |
|
Hemolytic anemia, Hepatomegaly, Increased circulating interleukin 6 concentration, Epistaxis, Ele... |
OMIM:614034 |
Snakebite Envenomation |
|
Hyponatremia, Epistaxis, Respiratory failure, Respiratory paralysis, Hypopituitarism, Thrombocyto... |
ORPHA:449285 |
Alexander Disease Type I |
|
Failure to thrive, Cachexia |
ORPHA:363717 |
Mcdonough Syndrome |
|
Cryptorchidism, Cachexia |
ORPHA:2471 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Respiratory failure |
OMIM:618637 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Pneumonia |
ORPHA:85179 |
3-Methylglutaconic Aciduria Type 7 |
|
Pneumothorax, Growth delay, Respiratory failure, Bone marrow hypocellularity, Infection associate... |
ORPHA:445038 |
Immunodeficiency 67 |
|
Transient neutropenia, Liver abscess, Increased circulating IgE level |
OMIM:607676 |
Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
Scedosporiosis |
|
Pericarditis, Arthralgia/arthritis, Sinusitis, Pneumonia, Bronchitis, Osteomyelitis, Bronchial br... |
ORPHA:449280 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Epistaxis, Diffuse alveolar hemorrhage, Productive cough, Leukocytosis, Lymphadenop... |
ORPHA:520 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Dyspnea, Hepatic necrosis, Anemia, Leukopenia, Interstitial pneumonitis, Increas... |
OMIM:127550 |
Diamond-Blackfan Anemia 20 |
|
Erythroid hypoplasia, Total anomalous pulmonary venous return, Anemia |
OMIM:618313 |
Immunodeficiency 42 |
|
Splenomegaly, Hypoplasia of the thymus, Hepatomegaly |
OMIM:616622 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Respiratory failure, Elevated circulating creatine kinase concentration, Respiratory insufficiency |
ORPHA:370968 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Hepatomegaly, Crackles, Mediastinal lymphadenopathy, Leukocytosis, Atelectasis, Dyspnea, Bronchie... |
OMIM:620233 |
Pseudo-Torch Syndrome 2 |
|
Cerebral hemorrhage, Bradycardia, Thrombocytopenia |
OMIM:617397 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micrognathia, Micromeli... |
ORPHA:440354 |
Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Esophageal stricture, Anemia, Gastrointestinal inflammation |
ORPHA:79409 |
Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenome... |
OMIM:619463 |
Mpi-Cdg |
|
Gastrointestinal hemorrhage, Diarrhea, Protein-losing enteropathy, Hypoalbuminemia, Decreased liv... |
ORPHA:79319 |
Spinocerebellar Ataxia 48 |
|
Cachexia |
OMIM:618093 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Hyperammonemia, Respiratory insufficiency, Anemia |
ORPHA:28 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Pancytopenia, Aplastic anemia, Short stature, Cryptorchidism, Growth delay, Leukopenia, Bone marr... |
OMIM:613990 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Micrognathia, Abnormal hand morphology, Metaphyseal widening, Flexion contracture, Short metatars... |
ORPHA:93307 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616276 |
Classic Hodgkin Lymphoma |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Weight loss, Bone marrow hypocellularity |
ORPHA:391 |
Portal Hypertension, Noncirrhotic, 1 |
|
Splenomegaly, Portal hypertension, Hepatomegaly |
OMIM:617068 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233690 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617182 |
Pachydermoperiostosis |
|
Osteomyelitis, Edema, Splenomegaly, Limitation of joint mobility, Osteoporosis, Osteolysis, Small... |
ORPHA:2796 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase concentration, Impaired T cell f... |
OMIM:614576 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Pulmonary embolism, Congestive heart failure, Osteoarthritis, Hypertension, Hypertrophic cardiomy... |
ORPHA:1345 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Postnatal growth retardation, Intrauterine growth retardation, Pancytopenia |
OMIM:600546 |
Intermediate Osteopetrosis |
|
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Thrombocytope... |
ORPHA:210110 |
Pelviscapular Dysplasia |
|
Congenital hip dislocation, Short femur, Hypoplastic scapulae, Hypoplastic ilia, Humeroradial syn... |
ORPHA:93333 |
Nemaline Myopathy 8 |
|
Respiratory failure |
OMIM:615348 |
Riddle Syndrome |
|
Generalized lymphadenopathy, Short stature, Pneumonia, Bronchitis, Elevated circulating alpha-fet... |
ORPHA:420741 |
Peripartum Cardiomyopathy |
|
Orthopnea, Crackles, Dyspnea, Asthma, Increased circulating interferon-gamma concentration, Respi... |
ORPHA:563 |
Primary Sclerosing Cholangitis |
|
Abnormal eosinophil morphology, Hepatic fibrosis, Hypoalbuminemia, Neoplasm of the gallbladder, H... |
ORPHA:171 |
Letterer-Siwe Disease |
|
Dyspnea, Jaundice, Hepatosplenomegaly, Anemia, Neutropenia, Thrombocytopenia |
OMIM:246400 |
Alg1-Cdg |
|
Abnormality of the gastrointestinal tract, Chronic diarrhea, Protein-losing enteropathy, Hypoalbu... |
ORPHA:79327 |
Dengue Fever |
|
Hepatomegaly, Epistaxis, Cardiorespiratory arrest, Leukopenia, Ascites, Hypoproteinemia, Thromboc... |
ORPHA:99828 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal endosteal sclerosis, ... |
OMIM:144750 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Cachexia, Weight loss, Macrovesicular hepatic steatosis, Cirrhosis, Anemia |
ORPHA:298 |
Tick-Borne Encephalitis |
|
Elevated circulating C-reactive protein concentration, Leukocytosis, Leukopenia, Increased circul... |
ORPHA:297 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Osteomyelitis, Myelodysplasia, Bronchiectasis, Recurrent upper respiratory tract infections |
OMIM:608184 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ... |
OMIM:616084 |
Familial Short Qt Syndrome |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
Whim Syndrome |
|
Sinusitis, Pneumonia, Respiratory tract infection, Lymphadenitis, Atelectasis, Recurrent upper re... |
ORPHA:51636 |
Non-Involuting Congenital Hemangioma |
|
Hepatic hemangioma, Thrombocytopenia |
ORPHA:141179 |
Spondylometaphyseal Dysplasia, Axial |
|
Rhizomelia, Short stature, Splenomegaly, Recurrent pneumonia, Disproportionate short-trunk short ... |
OMIM:602271 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Anemia, Hepatosplenomegaly |
OMIM:273680 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616277 |
Pfapa Syndrome |
|
Splenomegaly, Weight loss, Lymphadenopathy, Hepatomegaly |
ORPHA:42642 |
Trichothiodystrophy 3, Photosensitive |
|
Short stature, Increased circulating IgA level, Bilateral cryptorchidism, Abdominal adhesions, Ne... |
OMIM:616395 |
Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Short stature, Abnormality of thrombocytes, Splenomegaly, Jaundice, Cholestasis, Hy... |
ORPHA:172 |
Thyrocerebrorenal Syndrome |
|
Euthyroid goiter, Thrombocytopenia |
ORPHA:3327 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ... |
OMIM:610978 |
Van Buchem Disease |
|
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones |
OMIM:239100 |
Wild Type Attr Amyloidosis |
|
Pleural effusion, Abnormal pulmonary interstitial morphology, Pedal edema, Pulmonary edema |
ORPHA:330001 |
Ige Responsiveness, Atopic |
|
Asthma, Increased circulating IgE level, Allergic rhinitis |
OMIM:147050 |
Stt3B-Cdg |
|
Respiratory distress, Cryptorchidism, Thrombocytopenia, Intrauterine growth retardation |
ORPHA:370924 |
Stormorken Syndrome |
|
Howell-Jolly bodies, Short stature, Elevated circulating creatine kinase concentration, Epistaxis... |
OMIM:185070 |
Hypophosphatasia |
|
Short stature, Hypercalcemia, Respiratory insufficiency, Emphysema, Anemia |
ORPHA:436 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Elevated circulating creatine kinase concentration, Hyperamylasemia, Respiratory failure, Hypergl... |
OMIM:619386 |
Adult-Onset Still Disease |
|
Hepatomegaly, Abnormal circulating lipid concentration, Generalized lymphadenopathy, Neutrophilia... |
ORPHA:829 |
Autoimmune Hepatitis |
|
Viral hepatitis, Acute hepatitis, Splenomegaly, Fulminant hepatitis, Jaundice, Sclerosing cholang... |
ORPHA:2137 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Short stature, Thrombocytopenia, Recurrent upper respiratory tract infections, Reticulocytopenia,... |
ORPHA:508542 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Elevated circulating creatinine concentration, Anemia, Decreased circulating complement C3 concen... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Elevated circulating creatinine concentration, Anemia, Decreased circulating complement C3 concen... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Elevated circulating creatinine concentration, Anemia, Decreased circulating complement C3 concen... |
OMIM:612926 |
Netherton Syndrome |
|
Villous atrophy, Recurrent skin infections, Eczema, Allergic rhinitis, Increased circulating IgE ... |
OMIM:256500 |
Schimke Immuno-Osseous Dysplasia |
|
Short stature, Impaired T cell function, Abnormal lymphocyte physiology, Thrombocytopenia, Hyperl... |
ORPHA:1830 |
Pyoderma Gangrenosum |
|
Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe... |
ORPHA:48104 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ... |
OMIM:612447 |
Autoerythrocyte Sensitization Syndrome |
|
Gastrointestinal hemorrhage, Epistaxis, Autoimmune thrombocytopenia, Joint hemorrhage, Intracrani... |
ORPHA:324636 |
Nk-Cell Enteropathy |
|
Colonic diverticula, Duodenal ulcer, Abdominal pain, Abnormal gastric mucosa morphology, Increase... |
ORPHA:263665 |
Gaucher Disease Type 3 |
|
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Splenomegaly, Abnormal pulmonary in... |
ORPHA:77261 |
Diamond-Blackfan Anemia 16 |
|
Anemia |
OMIM:617408 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Bradycardia |
OMIM:620265 |
Abetalipoproteinemia |
|
Fat malabsorption, Abetalipoproteinemia, Acanthocytosis |
OMIM:200100 |
Spastic Paraplegia 84, Autosomal Recessive |
|
Hip contracture, Ankle flexion contracture, Knee flexion contracture, Crohn's disease, Leg muscle... |
OMIM:619621 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Short stature, Hypolysinemia, Splenomegaly, Increased circulating ferritin concentr... |
OMIM:222700 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Respiratory distress, Cryptorchidism, Thrombocytopenia, Intrauterine growth retardation |
OMIM:615597 |
Q Fever |
|
Cryoglobulinemia, Hepatomegaly, Respiratory distress, Pneumonia, Splenomegaly, Hepatitis, Abnorma... |
ORPHA:781 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia |
OMIM:618815 |
Tuberculosis |
|
Weight loss |
ORPHA:3389 |
Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites |
OMIM:271500 |
Aminoacylase 1 Deficiency |
|
Bradycardia |
OMIM:609924 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Small for gestational age, Abnormal T cell morphology |
OMIM:215250 |
Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Micronodular cirrhosis, Asthma, Hepatosplenomegaly, Ane... |
OMIM:606003 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
Linear Iga Dermatosis |
|
Inflammation of the large intestine |
ORPHA:46488 |
Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
Neonatal Severe Primary Hyperparathyroidism |
|
Splenomegaly, Hepatomegaly |
ORPHA:417 |
Pulmonary Arteriovenous Malformation |
|
Abnormal bleeding, Transient ischemic attack, Epistaxis, Myocardial infarction, Dyspnea, Heart mu... |
ORPHA:2038 |
Cog4-Cdg |
|
Recurrent upper respiratory tract infections, Hepatosplenomegaly, Growth delay, Cirrhosis, Hyperc... |
ORPHA:263501 |
Sengers Syndrome |
|
Growth delay, Pulmonary arterial hypertension, Respiratory insufficiency, Thrombocytopenia |
OMIM:212350 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Short stature, Thrombocytopenia, Megaloblastic anemia |
ORPHA:49827 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Recurrent respiratory infections, Decreased nasal nitric oxide, Bronchiectasis, Chronic cough, Re... |
OMIM:620197 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, Cirrhosis, Failure to thrive, Ne... |
ORPHA:79301 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Neonatal respiratory distress, Apnea, Elevated circulating creatine kinase concentration, Respira... |
ORPHA:168486 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Bowing of the long bones, Recurrent fractures, Joint hypermobility, Micrognathia, F... |
OMIM:617952 |
Unclassified Myelodysplastic Syndrome |
|
Acute myeloid leukemia, Leukocytosis, Bone marrow hypocellularity |
ORPHA:98827 |
Coccidioidomycosis |
|
Respiratory distress, Abscess, Eosinophilia, Pneumonia, Abnormality of the spleen, Mediastinal ly... |
ORPHA:228123 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,... |
OMIM:300908 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Pancytopenia, Growth delay, Bone marrow hypocellularity, Cirrhosis, Testicular atrophy, Thrombocy... |
OMIM:613987 |
Castleman Disease |
|
Increased circulating interleukin 6 concentration, Generalized lymphadenopathy, Abdominal mass, E... |
ORPHA:160 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Respiratory failure, Respiratory insufficiency |
OMIM:313420 |
Atrial Septal Defect 6 |
|
Atrial fibrillation, Bradycardia |
OMIM:613087 |
Pulmonary Capillary Hemangiomatosis |
|
Pulmonary edema, Diffuse alveolar hemorrhage, Pericardial effusion, Pulmonary capillary hemangiom... |
ORPHA:199241 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Hepatomegaly, Respiratory distress, Hyperammonemia, Leukopenia, Hyperglyc... |
OMIM:251000 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Postn... |
ORPHA:288 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia |
ORPHA:79477 |
Pontocerebellar Hypoplasia, Type 4 |
|
Respiratory failure |
OMIM:225753 |
Dent Disease |
|
Enlarged epiphyses, Bulging epiphyses, Enlargement of the ankles, Renal hypophosphatemia, Osteoma... |
ORPHA:1652 |
Neonatal Lupus Erythematosus |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Splenomegaly, Cholestasis, Anemia,... |
ORPHA:398124 |
Obesity Due To Congenital Leptin Deficiency |
|
Decreased proportion of CD4-positive helper T cells, Obesity, Orthostatic hypotension due to auto... |
ORPHA:66628 |
Rapidly Involuting Congenital Hemangioma |
|
Hepatic hemangioma, Thrombocytopenia |
ORPHA:141184 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Splenomegaly, Leukocytosis, Lymphadenopathy |
OMIM:611762 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Cryptorchidism, Thrombocytopenia, Abdominal distention, Elevated circulating creatinine concentra... |
OMIM:608104 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Elevated circulating creatinine concentration, Anemia, Decreased circulating complement C3 concen... |
OMIM:612925 |
Ataxia-Telangiectasia |
|
Decreased circulating IgG level, Sinusitis, Short stature, Elevated circulating alpha-fetoprotein... |
OMIM:208900 |
Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill... |
OMIM:614022 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Respiratory insufficiency due to muscle weakness, Cryptorchidism, Respiratory failure |
OMIM:611890 |
Focal Facial Dermal Dysplasia Type Iv |
|
Abnormal mast cell morphology |
ORPHA:398189 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Neonatal respiratory distress, Pulmonary hypoplasia, Respiratory failure |
OMIM:616867 |
Crimean-Congo Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Leukopenia, Increased circulating IgG level, ... |
ORPHA:99827 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Granulomatous cholangitis, Cholestasis, Abnormal intrahepatic bile duct morphology, Sclerosing ch... |
ORPHA:562639 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Short stature, Thiamine-responsive megaloblastic anemia, Cryptorchidism, Th... |
OMIM:249270 |
Anemia, Sideroblastic, 1 |
|
Sideroblastic anemia, Macrocytic anemia, Anemia of inadequate production, Hypochromic microcytic ... |
OMIM:300751 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypertrophic cardiomyopathy, Failure to thrive, Small for gestational age, Bradycardia |
OMIM:614702 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Decreased circulating complement factor B concentration, Hyperlipidemia, Schisto... |
OMIM:235400 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H... |
OMIM:618398 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Decreased proportion of CD8-positive T cells, Hypereosinophilia, T lymphocytopenia, Decreased pro... |
ORPHA:508533 |
Mirage Syndrome |
|
Hyponatremia, Short stature, Cryptorchidism, Hyperkalemia, Anemia, Leukopenia, Aspiration pneumon... |
OMIM:617053 |
Chylomicron Retention Disease |
|
Hypertriglyceridemia, Acanthocytosis, Abdominal distention, Diarrhea, Steatorrhea, EMG: myopathic... |
ORPHA:71 |
Hyperekplexia 4 |
|
Respiratory failure |
OMIM:618011 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Villous atrophy, Diarrhea, Vomiting, Protein-losing enteropathy, Hypoalbuminemia, Steatorrhea, He... |
OMIM:602579 |
Thrombocytopenia 1 |
|
Epistaxis, Increased circulating IgA level, Increased circulating IgE level, Decreased mean plate... |
OMIM:313900 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Micromelia, Micrognathia, Delayed epiphyseal ossification, Flexion contracture, Preaxial polydact... |
OMIM:210710 |
Harderoporphyria |
|
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Splenomegaly, Increased circulating ferritin con... |
OMIM:618892 |
Progressive Familial Heart Block, Type Ib |
|
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... |
OMIM:604559 |
Immunodeficiency 35 |
|
Recurrent respiratory infections, Increased circulating IgE level |
OMIM:611521 |
Osteosclerosis With Ichthyosis And Fractures |
|
Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic... |
OMIM:166740 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Micrognathia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wris... |
OMIM:259600 |
Laryngeal Neuroendocrine Tumor |
|
Weight loss, Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormone excess |
ORPHA:100083 |
Lassa Fever |
|
Dyspnea, Increased circulating IgM level, Jaundice, Cough |
ORPHA:99824 |
Niemann-Pick Disease, Type A |
|
Recurrent respiratory infections, Hepatomegaly, Failure to thrive, Bone-marrow foam cells, Microc... |
OMIM:257200 |
Immunodeficiency 32A |
|
Lymphadenitis, Granuloma, Lymphadenopathy |
OMIM:614893 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Obesity, Bradycardia, ... |
ORPHA:66529 |
Alg6-Cdg |
|
Decreased LDL cholesterol concentration, Feeding difficulties, Macroglossia, Protein-losing enter... |
ORPHA:79320 |
Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, L... |
ORPHA:470 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Tachycardia, Megaloblastic anemia, Anisopoikilo... |
ORPHA:35858 |
Hoyeraal-Hreidarsson Syndrome |
|
Abnormal leukocyte morphology, Short stature, Anemia, Bone marrow hypocellularity, Intrauterine g... |
ORPHA:3322 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal T cell morphology, Decreased p... |
ORPHA:760 |
Acitretin/Etretinate Embryopathy |
|
Third degree atrioventricular block, Hypoplasia of the thymus, Bradycardia |
ORPHA:40366 |
Farber Lipogranulomatosis |
|
Splenomegaly, Lipogranulomatosis, Failure to thrive, Hepatomegaly |
OMIM:228000 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased proportion of CD4-positive helper T cells, Obesity, Orthostatic hypotension due to auto... |
ORPHA:179494 |
3-Methylglutaconic Aciduria Type 4 |
|
Thrombocytopenia |
ORPHA:67048 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Pancytopenia, Aplastic anemia, Short stature, Leukopenia, Hepatic fibrosis, Bone marrow hypocellu... |
OMIM:613989 |
Focal Segmental Glomerulosclerosis 1 |
|
Pleural effusion, Hypoalbuminemia, Anemia, Hyperlipidemia |
OMIM:603278 |
Stormorken-Sjaastad-Langslet Syndrome |
|
Asplenia, Short stature, Abnormality of thrombocytes, Anemia |
ORPHA:3204 |
Pediatric Systemic Lupus Erythematosus |
|
Dyspnea, Lymphadenopathy, Leukopenia, Ascites, Decreased circulating complement C3 concentration,... |
ORPHA:93552 |
Osteogenesis Imperfecta, Type Xvi |
|
Prolonged bleeding time, Bruising susceptibility |
OMIM:616229 |
Methylmalonic Aciduria, Cblb Type |
|
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Respiratory distress, Hyperammonemia, Anemia,... |
OMIM:251110 |
Christianson Syndrome |
|
Cachexia |
ORPHA:85278 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... |
OMIM:616278 |
Chédiak-Higashi Syndrome |
|
Abnormal leukocyte morphology, Pancytopenia, Thrombocytopenia, Splenomegaly, Vacuolated lymphocyt... |
ORPHA:167 |
Legionnaires Disease |
|
Hyponatremia, Abnormal pleura morphology, Splenomegaly, Jaundice, Abnormal lung morphology, Recur... |
ORPHA:549 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Failure to thrive, Bradycardia, Atrioventricular block |
OMIM:614407 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612924 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... |
OMIM:301083 |
Lymphoid Interstitial Pneumonia |
|
Aortic valve stenosis, Lymphocytic interstitial pneumonia |
OMIM:247610 |
Cirrhotic Cardiomyopathy |
|
Increased circulating NT-proBNP concentration, Abnormal circulating A-type atrial natriuretic pep... |
ORPHA:57777 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Transient neutropenia, Aplastic anemia, Decreased response to growth hormone s... |
ORPHA:811 |
O'Sullivan-Mcleod Syndrome |
|
Increased circulating antibody level, Eosinophilia |
ORPHA:99965 |
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities |
|
Eosinophilia, Abnormally low T cell receptor excision circle level |
OMIM:618092 |
Igg4-Related Submandibular Gland Disease |
|
Eosinophilia, Cholangitis, Increased circulating IgG4 level, Retroperitoneal fibrosis, Increased ... |
ORPHA:449432 |
Formiminoglutamic Aciduria |
|
Abnormal circulating histidine concentration, Anemia, Megaloblastic anemia |
ORPHA:51208 |
Central Hypoventilation Syndrome, Congenital, 3 |
|
Respiratory failure, Apnea, Central hypoventilation |
OMIM:619483 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Giant cell hepatitis, Conjugated hyperbilirubinemia, Splenomegaly, Diarrhea, Steatorrhea, Acholic... |
OMIM:607765 |
Neuroleptic Malignant Syndrome |
|
Tachycardia, Hypertensive crisis, Pulmonary embolism, Leukocytosis, Hypertension, Bradycardia, Hy... |
ORPHA:94093 |
Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Sup... |
ORPHA:99103 |
Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop... |
OMIM:617222 |
Pulmonary Alveolar Microlithiasis |
|
Bronchitis, Nonproductive cough, Tachypnea, Increased circulating surfactant protein level, Oxyge... |
ORPHA:60025 |
Kaposiform Lymphangiomatosis |
|
Epistaxis, Pancreatic cysts, Splenomegaly, Abnormal lung morphology, Abnormality of the lymphatic... |
ORPHA:464329 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Th... |
OMIM:613839 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Autoimmune hemolytic anemia, Failure to thrive in infancy, Cachexia, Autoimmune thrombocytopenia,... |
ORPHA:37042 |
Duodenal Ulcer Due To Antral G-Cell Hyperfunction |
|
Hyperpepsinogenemia I, Duodenal ulcer |
OMIM:126840 |
Renpenning Syndrome |
|
Decreased testicular size, Cachexia |
ORPHA:3242 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Increased circulating IgG4 level, Increased circulating IgA level, Retroperitoneal fibrosis, Enla... |
ORPHA:79078 |
Primary Biliary Cholangitis |
|
Increased circulating IgA level, Celiac disease, Conjugated hyperbilirubinemia, Abdominal distent... |
ORPHA:186 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Hepatomegaly, Splenomegaly, Chronic pulmonary obstruction, Growth delay, Co... |
ORPHA:2414 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... |
OMIM:211350 |
Pelger-Huet Anomaly |
|
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... |
OMIM:169400 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hepatic steatosis, Cachexia, Cardiomegaly |
ORPHA:42 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Autoimmune hemolytic anemia, Short stature, Autoimmune thrombocytopenia, Recurrent upper respirat... |
ORPHA:391487 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Failure to thrive in infancy, Cachexia |
OMIM:616801 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H... |
OMIM:235700 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Riboflavin Transporter Deficiency |
|
Cachexia |
ORPHA:97229 |
Lipoyltransferase 1 Deficiency |
|
Pulmonary arterial hypertension, Bradycardia |
OMIM:616299 |
Igg4-Related Pachymeningitis |
|
Sinusitis, Eosinophilia, Elevated circulating C-reactive protein concentration, Increased circula... |
ORPHA:449427 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Respiratory failure, Apnea, Respiratory insufficiency |
OMIM:610127 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Poor appetite, Elevated circulating C-reactive prot... |
ORPHA:324964 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Tachycardia, Atrial fibrillation, Splenomegaly, Bradycardia, Failure to th... |
OMIM:613327 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Atrial fibrillation, Bradycardia |
OMIM:614302 |
Osteopetrosis, Autosomal Dominant 1 |
|
Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Osteopetrosis, Calvarial oste... |
OMIM:607634 |
Granulomatous Disease, Chronic, X-Linked |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:306400 |
Atrial Septal Defect, Coronary Sinus Type |
|
Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic component of the second heart ... |
ORPHA:99104 |
Gm1-Gangliosidosis, Type Ii |
|
Joint stiffness, Coxa valga, Splenomegaly, Patent ductus arteriosus, Hypoplastic vertebral bodies... |
OMIM:230600 |
Pulmonary Hypertension, Primary, 1 |
|
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... |
OMIM:178600 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Decreased proportion of CD3-positive T cells, Failure to thrive |
ORPHA:275 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Cachexia |
ORPHA:1389 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Conjugated hyperbilirubinemia, Splenomegaly, Diarrhea, Hepatocellular carcinoma, Fat malabsorption |
OMIM:601847 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Increased serum pyruvate, Hyperalaninemia, Respiratory failure, Apneic episodes precipitated by i... |
OMIM:312170 |
Thyrocerebroretinal Syndrome |
|
Thrombocytopenia, Goiter |
OMIM:274240 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Hepatomegaly, Decreased circulating ceruloplasmin concentration, Elevated circulating creatine ki... |
OMIM:616828 |
Duodenal Ulcer, Hyperpepsinogenemic I |
|
Hyperpepsinogenemia I, Duodenal ulcer |
OMIM:126850 |
Mgat2-Cdg |
|
Abnormal bleeding, Decreased circulating IgG level, Impaired platelet aggregation, Decreased circ... |
ORPHA:79329 |
Insulin-Resistance Syndrome Type B |
|
Enlarged ovaries, Abnormal circulating lipid concentration, Pneumonia, Decreased circulating comp... |
ORPHA:2298 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:612653 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Thrombocytopenia, Bone marrow hypocellularity, Anemia, Neutropenia |
OMIM:614520 |
Beta-Thalassemia Intermedia |
|
Hypoparathyroidism, Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia... |
ORPHA:231222 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Short stature, Elevated circulating creatinine concentration, Hyperuricemia, Neutropenia, Intraut... |
OMIM:617056 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Postnatal growth retardation, Increased circulating IgE level, Short stature, Delayed puberty |
OMIM:618985 |
Amoebiasis Due To Entamoeba Histolytica |
|
Intestinal obstruction, Liver abscess, Lung abscess, Abdominal pain, Gastrointestinal dysmotility... |
ORPHA:67 |
Fetal Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Thrombocytopenia |
ORPHA:85212 |
Tibial Muscular Dystrophy |
|
Respiratory failure, Mildly elevated creatine kinase |
ORPHA:609 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Respiratory distress, Short stature, Neonatal... |
OMIM:260400 |
Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Recurrent respiratory infections, Sinusitis, Bronchiectasis, Immotile cilia... |
OMIM:606763 |
Lymphoid Interstitial Pneumonia |
|
Multiple pulmonary cysts, Skin rash, Eczema, Crackles, Respiratory tract infection, Dyspnea, Whee... |
ORPHA:79128 |
Wells Syndrome |
|
Eosinophilia |
ORPHA:901 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Bruisi... |
OMIM:277450 |
Roifman Syndrome |
|
Hepatomegaly, Eosinophilia, Splenomegaly, Recurrent pneumonia, Lymphadenopathy |
OMIM:616651 |
Erythrocytosis, Familial, 1 |
|
Splenomegaly, Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, Exertion... |
OMIM:133100 |
Ogden Syndrome |
|
Microretrognathia, Peripheral pulmonary artery stenosis, Congenital hip dislocation, Broad hallux... |
OMIM:300855 |
Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Intrauterine growth retardation, Respiratory failure, Hyperglycinemia, Respiratory insufficiency |
OMIM:615330 |
Fibrous Dysplasia Of Bone |
|
Abnormal morphology of the radius, Thin bony cortex, Cortical irregularity, Bowing of the long bo... |
ORPHA:249 |
Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Chronic rhinitis due to n... |
OMIM:259710 |
Hydrops Fetalis, Nonimmune |
|
Anemia |
OMIM:236750 |
Sweet Syndrome |
|
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Increased circulating inter... |
ORPHA:3243 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Reduced vital capacity, Respiratory failure, Elevated circulating creatine kinase concentration, ... |
OMIM:603689 |
Juvenile Arthritis |
|
Thrombocytosis, Leukocytosis |
OMIM:618795 |
Thymoma |
|
Aplastic anemia, Pure red cell aplasia, Abnormal lymphocyte proliferation, Abnormal lymphocyte ph... |
ORPHA:99867 |
Congenital Tricuspid Stenosis |
|
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Rheumatoid a... |
ORPHA:95459 |
Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... |
OMIM:115200 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Hepatomegaly, Pneumonia, Splenomegaly, Lymphadenopathy, Thrombocytopenia |
ORPHA:169090 |
Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Recurrent upper respiratory tract infections, Recurrent pneumonia, B... |
OMIM:614868 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Neonatal respiratory distress, Respiratory insufficiency, Growth delay, Respiratory failure, Hype... |
OMIM:245400 |
Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Tachypnea, Hyperammonemia, Growth delay, Thrombocytopenia |
ORPHA:79242 |
Dyskeratosis Congenita, Digenic |
|
Short stature, Decreased circulating total IgM, Intrauterine growth retardation, Decreased circul... |
OMIM:620040 |
Acquired Partial Lipodystrophy |
|
Lymphocytosis |
ORPHA:79087 |
Nephronophthisis 2 |
|
Elevated circulating creatinine concentration, Hyperkalemia, Respiratory insufficiency, Respirato... |
OMIM:602088 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Failure to thrive, Exocrin... |
OMIM:612714 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Recurrent respiratory infections, Reduced bone mineral density, Agammaglobulinemia, Long fibula, ... |
ORPHA:935 |
Tufted Angioma |
|
Anemia, Thrombocytopenia |
ORPHA:1063 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:616649 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Pulmonary embolism, Splenomegaly, Jaundice, Stom... |
OMIM:185000 |
Fanconi Anemia, Complementation Group F |
|
Short stature, Decreased response to growth hormone stimulation test, Pneumonia, Cryptorchidism, ... |
OMIM:603467 |
Bloom Syndrome |
|
Elevated hemoglobin A1c, Postnatal growth retardation, Cryptorchidism, Recurrent upper respirator... |
OMIM:210900 |
Lead Poisoning |
|
Decreased HDL cholesterol concentration, Asthma, Increased circulating IgE level, Imbalanced hemo... |
ORPHA:330015 |
Gaucher Disease, Type Ii |
|
Hepatomegaly, Apnea, Splenomegaly, Anemia, Stridor, Cough, Bronchiolitis, Recurrent aspiration pn... |
OMIM:230900 |
Mitchell-Riley Syndrome |
|
Jejunal atresia, Intestinal malrotation, Malabsorption, Diarrhea, Anteriorly placed anus, Acholic... |
OMIM:615710 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Pulmonary edema |
OMIM:105210 |
Alveolar Echinococcosis |
|
Liver abscess, Pulmonary cyst, Eosinophilia, Cholangitis, Portal hypertension, Pancreatic cysts, ... |
ORPHA:284 |
Glycogen Storage Disease Ixb |
|
Hepatomegaly, Short stature, Splenomegaly, Growth delay, Hyperuricemia, Increased hepatic glycoge... |
OMIM:261750 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Severe B lymphocytopenia, Decreased response to growth hormone stimulation test, Au... |
ORPHA:293978 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Recurrent respiratory infections, Eosinophilia, Atelectasis, Increased circulating IgE level, Cough |
ORPHA:2314 |
Immunodeficiency 77 |
|
Chronic pulmonary obstruction, Bronchiectasis, Cutaneous abscess |
OMIM:619223 |
Undifferentiated Pleomorphic Sarcoma |
|
Abnormal peritoneum morphology, Weight loss |
ORPHA:2023 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Chronic active hepatitis, Bronchitis, Nonproductive cough, Leukopenia, Decreas... |
ORPHA:289390 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Respiratory failure |
OMIM:613435 |
Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Jaundice, Spherocytosis, Tach... |
ORPHA:71275 |
Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Abnormality of T cell physiology, Medias... |
OMIM:181000 |
Yellow Fever |
|
Acute pancreatitis, Neutrophilia, Increased circulating interleukin 6 concentration, Elevated cir... |
ORPHA:99829 |
Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis, Chronic otitis media, C... |
OMIM:244400 |
Marburg Hemorrhagic Fever |
|
Shock, Lymphopenia, Reticulocytosis, Tachycardia, Pericarditis, Neutrophilia in presence of infec... |
ORPHA:99826 |
Long Qt Syndrome 9 |
|
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... |
OMIM:611818 |
X-Linked Centronuclear Myopathy |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... |
ORPHA:596 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Increased circulating ferritin concentration, Anisopoikilocytosis, Reticulocytopenia, Hepatosplen... |
ORPHA:300298 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis |
OMIM:182900 |
Whipple Disease |
|
Hepatomegaly, Cachexia, Splenomegaly, Mediastinal lymphadenopathy, Anemia |
ORPHA:3452 |
Surfactant Metabolism Dysfunction, Pulmonary, 5 |
|
Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insufficiency, Interlobular septal ... |
OMIM:614370 |
Trichohepatoenteric Syndrome 2 |
|
Villous atrophy, Decreased serum iron, Diarrhea, Chronic diarrhea, Bloody diarrhea, Chronic hepat... |
OMIM:614602 |
Fish-Eye Disease |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:79292 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Lymphocytosis, Hypochromic anem... |
ORPHA:514 |
Atrial Septal Defect, Sinus Venosus Type |
|
Automatic atrial tachycardia, First degree atrioventricular block, Supraventricular tachycardia, ... |
ORPHA:99105 |
Hyper-Igd Syndrome |
|
Neutrophilia, Increased circulating IgA level, Splenomegaly, Leukocytosis, Lymphadenitis, Hepatos... |
OMIM:260920 |
Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... |
OMIM:614162 |
Congenital Myopathy 10B, Mild Variant |
|
Elevated circulating creatine kinase concentration, Reduced forced vital capacity, Recurrent pneu... |
OMIM:620249 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Respiratory failure, Elevated circulating creatine kinase concentration |
ORPHA:75840 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Hepatomegaly, Respiratory insufficiency due to muscle weakness, Respiratory... |
OMIM:220110 |
Smith-Kingsmore Syndrome |
|
Cryptorchidism, Rhizomelia, Thrombocytopenia, Decreased circulating IgA level |
OMIM:616638 |
Bullous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis |
ORPHA:280785 |
Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy |
OMIM:612783 |
Wiskott-Aldrich Syndrome |
|
Prolonged bleeding time, Recurrent intrapulmonary hemorrhage, Petechiae, Epistaxis, Hematemesis, ... |
ORPHA:906 |
Familial Isolated Restrictive Cardiomyopathy |
|
Orthopnea, Recurrent respiratory infections, Atrial fibrillation, Tricuspid regurgitation, Suprav... |
ORPHA:75249 |
Wilson Disease |
|
Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Anemia, Cirrhosis, Acute hepatitis, Hepatic stea... |
ORPHA:905 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Eosinophilia |
OMIM:253600 |
Cryptogenic Organizing Pneumonia |
|
Neutrophilia, Leukocytosis, Pneumothorax, Weight loss |
ORPHA:1302 |
Classic Mycosis Fungoides |
|
Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy |
ORPHA:2584 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Respiratory insufficiency due to muscle weakness, Dyspnea, Respiratory failure, Elevated circulat... |
ORPHA:352447 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Hypertriglyceridemia, Short stature, Splenomegaly, Hepatosplenomegaly, Hypocalcemia... |
OMIM:612526 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Premature ventricular contractio... |
OMIM:212138 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... |
ORPHA:86843 |
Cinca Syndrome |
|
Hepatomegaly, Abnormality of thrombocytes, Abnormality of neutrophils, Elevated circulating C-rea... |
ORPHA:1451 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hypertension, Pulmonary embolism,... |
ORPHA:729 |
Pancreas, Annular |
|
High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
Annular Pancreas |
|
High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
Riddle Syndrome |
|
Decreased circulating IgG level, Short stature, Pulmonary fibrosis |
OMIM:611943 |
Orofaciodigital Syndrome Vi |
|
11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi... |
OMIM:277170 |
Hellp Syndrome |
|
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Pulmonary edema, Microangi... |
ORPHA:244242 |
Mungan Syndrome |
|
Barrett esophagus, Gastroparesis, Intestinal pseudo-obstruction, Hypoperistalsis, Abdominal pain,... |
OMIM:611376 |
Immunodeficiency 87 And Autoimmunity |
|
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... |
OMIM:619573 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Cholangitis, Bronchitis, Cholecystitis, Psoriasiform dermatitis, Epididymitis,... |
ORPHA:183675 |
Macrocephaly/Autism Syndrome |
|
Hepatomegaly, Splenomegaly, Decreased circulating antibody level, Hydrocele testis, Lymphopenia |
OMIM:605309 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:300861 |
Immunodeficiency 65, Susceptibility To Viral Infections |
|
Stomatitis, Bronchiectasis |
OMIM:618648 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Short femur, Foot oligodactyly, Amelia |
OMIM:601357 |
Stüve-Wiedemann Syndrome |
|
Osteopenia, Flexion contracture of finger, Bowing of the long bones, Camptodactyly of finger, Rec... |
ORPHA:3206 |
Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Sinusitis, Short stature, Recurrent bronchitis, Dysgammaglobulinemia... |
OMIM:251260 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Respiratory distress, Reticulocytosis, Schistocytosis, Elevated circulating creatinine concentrat... |
OMIM:274150 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Pulmonary Hypertension, Primary, 5 |
|
Angina pectoris, Right ventricular failure, Syncope, Pulmonary arterial hypertension, Exertional ... |
OMIM:265400 |
Brugada Syndrome |
|
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... |
ORPHA:130 |
Kasabach-Merritt Syndrome |
|
Respiratory distress, Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Hy... |
ORPHA:2330 |
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Hyperuricemia, Anemia |
ORPHA:371 |
Short Qt Syndrome 2 |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... |
OMIM:609621 |
Melioidosis |
|
Shock, Foot osteomyelitis, Lung abscess, Pneumonia, Respiratory tract infection, Osteoarthritis, ... |
ORPHA:31202 |
Immunodeficiency 58 |
|
Helicobacter pylori infection, Recurrent cutaneous abscess formation, Eczema, Allergic rhinitis, ... |
OMIM:618131 |
Farber Disease |
|
Respiratory distress, Intrahepatic cholestasis with episodic jaundice, Short stature, Nodular pat... |
ORPHA:333 |
Bronchial Neuroendocrine Tumor |
|
Tricuspid regurgitation, Pneumonia, Right ventricular failure, Dyspnea, Nonproductive cough, Asth... |
ORPHA:97287 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hepatic bridging fibrosis |
OMIM:619658 |
Palmoplantar Keratoderma, Epidermolytic, 1 |
|
Increased circulating IgE level |
OMIM:144200 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Respiratory failure, Elevated circulating creatine kinase concentration |
OMIM:613954 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... |
ORPHA:731 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Short stature, Megaloblastic anemia, Hyperhom... |
OMIM:277380 |
Familial Osteodysplasia, Anderson Type |
|
Recurrent fractures, Aplastic clavicle, Missing ribs, Bifid femur, Increased susceptibility to fr... |
ORPHA:2769 |
Immune Thrombocytopenia |
|
Epistaxis, Thrombocytopenia |
ORPHA:3002 |
Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia |
OMIM:612527 |
Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, Refractory anemia, Abdominal pain, High, narrow palate, Rectal prola... |
ORPHA:79076 |
Immunodeficiency, Common Variable, 10 |
|
Decreased response to growth hormone stimulation test, Recurrent viral upper respiratory tract in... |
OMIM:615577 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Pancytopenia, Short stature, Portal hypertension, Cough, Tachypnea, Abnormal pulmonary interstiti... |
OMIM:613658 |
Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Respiratory distress, Hyperammonemia, Anemia,... |
OMIM:251100 |
Poems Syndrome |
|
Respiratory insufficiency due to muscle weakness, Lymphadenopathy, Restrictive ventilatory defect... |
ORPHA:2905 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Hepatomegaly, Neutrophilia, Failure to thrive in infancy, Abscess, Splenomegaly, Pulmonary fibrosis |
OMIM:612852 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Orthopnea, Reduced vital capacity, Restrictive ventilatory defect, Respiratory failure, Exertiona... |
ORPHA:98913 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Splenomegaly, Pancytopenia |
OMIM:614979 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased circulating ferritin concentrati... |
OMIM:194380 |
Flynn-Aird Syndrome |
|
Cachexia |
ORPHA:2047 |
Osteopetrosis, Autosomal Dominant 3 |
|
Splenomegaly, Hyperparathyroidism, Anemia, Hepatomegaly |
OMIM:618107 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Portal hypertension, Elevated circulating alpha-fetoprotein concentration, Splenome... |
OMIM:251880 |
Timothy Syndrome |
|
Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, Bradycardia, Pulmonary ar... |
OMIM:601005 |
Overlap Myositis |
|
Elevated circulating creatine kinase concentration, Abnormal pulmonary interstitial morphology, L... |
ORPHA:206572 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Bradycardia |
OMIM:614654 |
Long Qt Syndrome 5 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... |
OMIM:613695 |
Adult-Onset Nemaline Myopathy |
|
Respiratory insufficiency due to muscle weakness, Reduced vital capacity, Paraproteinemia, Mildly... |
ORPHA:171442 |
Hereditary Spherocytosis |
|
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno... |
ORPHA:822 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Restrictive ventilatory defect, Respiratory failure, Elevated circulating creatine kinase concent... |
OMIM:606612 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Short stature, Decreased response to growth hormone stimulation test, Pneumonia, Enter... |
OMIM:307200 |
Ovarian Hyperstimulation Syndrome |
|
Pulmonary edema, Peripheral edema, Pleural effusion, Ascites, Generalized edema |
ORPHA:64739 |
Alg12-Cdg |
|
Hyponatremia, Recurrent respiratory infections, Partial absence of specific antibody response to ... |
ORPHA:79324 |
Shigellosis |
|
Anorexia, Intestinal perforation, Abnormal blood ion concentration, Uveitis, Bloody diarrhea, Par... |
ORPHA:810 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta... |
ORPHA:411703 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Tachypnea, Respiratory insufficiency, Respiratory failure, Hyperglycinemia |
OMIM:614299 |
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Anemia, Gastrointestinal inflammation |
ORPHA:79410 |
Moyamoya Disease 6 With Or Without Achalasia |
|
Thrombocytopenia |
OMIM:615750 |
Thrombocytopenia 3 |
|
Thrombocytopenia, Epistaxis, Decreased mean platelet volume |
OMIM:273900 |
Thoraco-Abdominal Enteric Duplication |
|
Camptodactyly of finger, Intestinal malrotation, Duodenal stenosis |
ORPHA:1759 |
Deafness, Neural, With Atypical Atopic Dermatitis |
|
Increased circulating IgE level |
OMIM:221700 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Reticulocytosis, Abdominal pain, Intestinal perforation, Thrombocytopenia, Rectal p... |
ORPHA:90038 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Increased circulating interleukin 6 concen... |
OMIM:256040 |
Beemer-Ertbruggen Syndrome |
|
Respiratory insufficiency, Thrombocytopenia |
ORPHA:1237 |
Al Amyloidosis |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Nonproductive c... |
ORPHA:85443 |
Autosomal Agammaglobulinemia |
|
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... |
ORPHA:33110 |
Macs Syndrome |
|
Prolonged bleeding time, Bruising susceptibility |
OMIM:613075 |
Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jau... |
OMIM:603903 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Hepatomegaly, Cryptorchidism, Hyperammonemia, Growth delay, Respiratory failure, Intrauterine gro... |
ORPHA:1194 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Elevated circulating creatine kinase concentration, Atelectasis, Pulmonary fibrosis, Bronchioliti... |
ORPHA:254361 |
Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Purpura |
ORPHA:809 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Hydrocele testis, Protein-losing enteropathy, Feeding difficulties |
OMIM:618154 |
Ring Chromosome 10 Syndrome |
|
Cachexia |
ORPHA:1438 |
Atrial Fibrillation, Familial, 7 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... |
OMIM:612240 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Recurrent pneumonia, Recurrent bronchiolitis, Increased circulating IgE level |
OMIM:616069 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia |
ORPHA:542306 |
3-Methylglutaconic Aciduria, Type Viii |
|
Failure to thrive, Bradycardia, Neutropenia |
OMIM:617248 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Short femur, Pneumothorax, Abnormal circulating ceruloplasmin concentration, Talipes equinovarus,... |
OMIM:620306 |
Acute Radiation Syndrome |
|
Interstitial pneumonitis, Lymphopenia, Granulocytopenia, Thrombocytopenia |
ORPHA:454831 |
Hereditary Mixed Polyposis Syndrome |
|
Refractory anemia, Juvenile colonic polyposis, Rectal polyposis, Adenomatous colonic polyposis, D... |
ORPHA:157794 |
Neuromyelitis Optica Spectrum Disorder |
|
Respiratory failure |
ORPHA:71211 |
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities |
|
Short stature, Thrombocytopenia |
OMIM:616577 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Aplasia of the thymus, Pneumonia, Sinusitis, Atypical or p... |
ORPHA:83471 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
Hemorrhagic Fever-Renal Syndrome |
|
Increased circulating interleukin 6 concentration, Pneumonia, Thrombocytopenia, Leukocytosis, Hyp... |
ORPHA:340 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Respiratory failure, Dyspnea |
ORPHA:2759 |
Intermediate Nemaline Myopathy |
|
Respiratory failure |
ORPHA:171433 |
Long Qt Syndrome 8 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... |
OMIM:618447 |
Tetrasomy 12P |
|
Cachexia |
ORPHA:884 |
Idiopathic Congenital Hypothyroidism |
|
Bradycardia |
ORPHA:95717 |
Sick Sinus Syndrome 4 |
|
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... |
OMIM:619464 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Hypocalcemia, Thrombocytopenia |
OMIM:259700 |
Romano-Ward Syndrome |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... |
ORPHA:101016 |
Secondary Intestinal Lymphangiectasia |
|
Decreased circulating IgG1 level, Decreased prealbumin level, Reduced circulating transferrin con... |
ORPHA:90363 |
Hereditary Orotic Aciduria |
|
Recurrent respiratory infections, Impaired T cell function, Splenomegaly, Patent ductus arteriosu... |
ORPHA:30 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Cachexia |
ORPHA:1933 |
Iga Pemphigus |
|
Monoclonal elevation of circulating IgA, Eosinophilia, Increased circulating IgA level, Cutaneous... |
ORPHA:555905 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah... |
OMIM:619849 |
Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Lymphadenitis, Abnormal lung morphology, D... |
ORPHA:449395 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Skin rash, Elevated circulating C-reactive protein concentration, Recurrent pneumonia, Decreased ... |
OMIM:617718 |
Neuraminidase Deficiency |
|
Hepatomegaly, Short stature, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymph... |
OMIM:256550 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Increased circulating IgE level, Short stature |
ORPHA:1858 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Short stature, Pancreatic steatosis, Throm... |
OMIM:617052 |
Neonatal Alloimmune Neutropenia |
|
Pneumonia |
ORPHA:464370 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Cachexia, Weight loss |
ORPHA:1979 |
Orotic Aciduria |
|
Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... |
OMIM:258900 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease |
OMIM:214900 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Severe failure to thrive, Cachexia |
ORPHA:371364 |
Elliptocytosis 1 |
|
Splenomegaly, Jaundice, Hemolytic anemia, Elliptocytosis |
OMIM:611804 |
Interstitial Lung And Liver Disease |
|
Hepatomegaly, Dyspnea, Intraalveolar phospholipid accumulation, Cholestasis, Abnormal pulmonary i... |
OMIM:615486 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Respiratory failure, Cirrhosis, Hepatic steatosis |
ORPHA:363400 |
Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Hepatomegaly, Apnea, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Anemia... |
OMIM:608013 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypoparathyroidism, Hepatosplenomeg... |
ORPHA:231226 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Prolonged bleeding time |
ORPHA:1901 |
Leigh Syndrome |
|
Respiratory failure, Abnormal pattern of respiration, Respiratory insufficiency |
OMIM:256000 |
Acquired Methemoglobinemia |
|
Tachycardia, Syncope, Palpitations, Arrhythmia, Methemoglobinemia |
ORPHA:464453 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Hepatic fibrosis, Hypoparathyroidism, Hepatomegaly, Anemia of inade... |
ORPHA:231214 |
Lysosomal Acid Lipase Deficiency |
|
Failure to thrive, Bone-marrow foam cells, Cachexia, Hypersplenism, Microvesicular hepatic steato... |
ORPHA:275761 |
Cold Agglutinin Disease |
|
Hepatomegaly, Splenomegaly, Hemolytic anemia, Lymphadenopathy |
ORPHA:56425 |
Ethylene Glycol Poisoning |
|
Hyperkalemia, Renal tubular epithelial necrosis, Hypocalcemia, Cerebral edema, Pulmonary edema |
ORPHA:31826 |
Pediatric-Onset Graves Disease |
|
Hepatomegaly, Splenomegaly, Jaundice, Neonatal asphyxia, Neutropenia in presence of anti-neutropi... |
ORPHA:525731 |
Immunodeficiency 33 |
|
Decreased circulating total IgM, Increased circulating IgA level |
OMIM:300636 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Autoimmune hemolytic anemia, Tachycardia, Congestive heart failure |
ORPHA:90037 |
Amyloidosis, Familial Visceral |
|
Splenomegaly, Cholestasis, Hepatomegaly |
OMIM:105200 |
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form |
|
Feeding difficulties, Gastroesophageal reflux, Esophagitis, Hyposerinemia |
ORPHA:79350 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Pes planus, Short femur, Talipes, Polyhydramnios, Micrognathia, Patent ductus arteriosus, Anemia,... |
OMIM:300990 |
Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... |
OMIM:140400 |
Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Growth delay, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
Acquired Purpura Fulminans |
|
Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal hemorrhage, Thromb... |
ORPHA:49566 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Hepatomegaly, Short stature, Elevated circulating creatine kinase concentratio... |
OMIM:611881 |
Congenital Fibrinogen Deficiency |
|
Abnormal bleeding, Prolonged prothrombin time, Abnormal umbilical stump bleeding, Gingival bleedi... |
ORPHA:335 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Hepatomegaly, Pancytopenia, Portal hypertension, Elevated circulating C-reactive protein concentr... |
OMIM:615688 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Weight loss, Hemophagocytosis, Hepatosplenomegaly |
ORPHA:86884 |
Blue Rubber Bleb Nevus |
|
Rectal prolapse, Iron deficiency anemia, Intestinal bleeding, Volvulus, Intussusception, Thromboc... |
OMIM:112200 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Spherocytosis, Short stature |
ORPHA:66518 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:146830 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Short stature, Portal hypertension,... |
OMIM:613385 |
3-Methylglutaconic Aciduria, Type Viib |
|
Respiratory distress, Rhizomelia, Recurrent pneumonia, Growth delay, Leukopenia, Neutropenia, Int... |
OMIM:616271 |
Visceral Myopathy 1 |
|
Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Abdominal pain, Pancreatitis... |
OMIM:155310 |
Catastrophic Antiphospholipid Syndrome |
|
Pulmonary embolism, Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia, Pulmonar... |
ORPHA:464343 |
Liver Disease, Severe Congenital |
|
Hyponatremia, Joint laxity, Pneumonia, Elevated circulating alpha-fetoprotein concentration, Micr... |
OMIM:619991 |
Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Pancytopenia, Generalized lymphadenopathy, Hepatomegaly, Pneumonia, Splenomegal... |
OMIM:615846 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Cachexia |
ORPHA:2774 |
Pontocerebellar Hypoplasia Type 1 |
|
Respiratory failure, Congenital laryngeal stridor |
ORPHA:2254 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Cachexia |
OMIM:618186 |
Ciliary Dyskinesia, Primary, 37 |
|
Wheezing, Bronchiectasis, Chronic rhinitis, Rhinorrhea |
OMIM:617577 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Cardiomyopathy, Arrhythmia, Bradycardia |
OMIM:609286 |
Braddock-Carey Syndrome 2 |
|
Thrombocytopenia |
OMIM:619981 |
Sheehan Syndrome |
|
Orthostatic hypotension, Obesity, Normochromic anemia, Palpitations, Bradycardia |
ORPHA:91355 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Pericardial effusion, Ascites, Pulmonary edema |
OMIM:115197 |
Immunodeficiency 56 |
|
Recurrent respiratory infections, Cholangitis, Recurrent pneumonia, Bronchiectasis, Recurrent sin... |
OMIM:615207 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Short stature, Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, ... |
ORPHA:98870 |
Immunodeficiency 59 And Hypoglycemia |
|
Hepatomegaly, Complete or near-complete absence of specific antibody response to unconjugated pne... |
OMIM:233600 |
Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Hepatomegaly |
ORPHA:163596 |
Dohle Bodies And Leukemia |
|
Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia |
OMIM:223350 |
Wolfram Syndrome 1 |
|
Sideroblastic anemia, Megaloblastic anemia, Growth delay, Testicular atrophy, Thrombocytopenia |
OMIM:222300 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... |
OMIM:616217 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Hepatomegaly, Ascites, Weight loss |
ORPHA:2198 |
Colonic Atresia |
|
Abdominal distention, Peptic ulcer, Colonic atresia, Duodenal stenosis |
ORPHA:1198 |
Systemic Sclerosis |
|
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Pericarditis, Bar... |
ORPHA:90291 |
Proprotein Convertase 1/3 Deficiency |
|
Villous atrophy, Diarrhea, Malabsorption |
OMIM:600955 |
Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... |
OMIM:601494 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Autoimmune hemolytic anemia, Tachycardia, Splenomegaly, Congestive heart failure, Chronic lymphat... |
ORPHA:90033 |
Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... |
ORPHA:3282 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Conjugated hyperbilirubinemia, Splenomegaly, Fat malabsorption, Diarrhea |
OMIM:211600 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia, Leukocytosis, Thrombocytopenia, Goiter |
ORPHA:83601 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Respiratory failure, Hepatic steatosis |
ORPHA:70472 |
Sick Sinus Syndrome 1 |
|
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... |
OMIM:608567 |
Irida Syndrome |
|
Decreased circulating copper concentration, Abnormal intestine morphology |
ORPHA:209981 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... |
ORPHA:247598 |
Lesch-Nyhan Syndrome |
|
Hyperuricemia, Anemia |
ORPHA:510 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Short stature, Respi... |
ORPHA:77293 |
Lig4 Syndrome |
|
Recurrent respiratory infections, Pancytopenia, Cryptorchidism, Asthma, Acute lymphoblastic leuke... |
OMIM:606593 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Respiratory failure, Tachypnea, Inspiratory stridor, Ventilator dependence with inability to wean |
OMIM:604320 |
Inflammatory Pseudotumor Of The Liver |
|
Increased hepatitis B virus antibody level, Abnormal liver sonography, Biliary tract abnormality,... |
ORPHA:90003 |
19Q13.11 Microdeletion Syndrome |
|
Cryptorchidism, Cachexia, Failure to thrive, Supernumerary nipple |
ORPHA:217346 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Increased serum iron, C... |
OMIM:602390 |
Infantile Liver Failure Syndrome 2 |
|
Prolonged prothrombin time |
OMIM:616483 |
Hennekam-Beemer Syndrome |
|
Mastocytosis, Camptodactyly of finger, Lower limb asymmetry, Micrognathia, Pneumonia, Clinodactyl... |
ORPHA:2135 |
Immunoglobulin Kappa Light Chain Deficiency |
|
Recurrent respiratory infections, Abnormal immunoglobulin level |
OMIM:614102 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope |
OMIM:600919 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Eosinophilia, Hepatitis, Lymphadenopathy, Weight loss, Interstitial pneumonitis, Lymphocytosis |
ORPHA:139402 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Fat malabsorption, Hepatic failure, Hyperbilirubinemia, Hepatosplenomegaly |
ORPHA:79302 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Increased serum pyruvate, Macrocytic anemia, Splenomegaly, Hyperprolinemia, Hyperalaninemia |
OMIM:619046 |
Trigonocephaly 1 |
|
High, narrow palate, Meckel diverticulum |
OMIM:190440 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Pulmonary arterial hypertension, Failure to thrive, Bradycardia |
OMIM:619272 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Feeding difficulties, Dysphagia, Meckel diverticulum, Poor suck, Nasogastric tube feeding |
ORPHA:163961 |
Combined Oxidative Phosphorylation Deficiency 4 |
|
Hepatomegaly, Respiratory failure, Hyperammonemia, Intrauterine growth retardation |
OMIM:610678 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
T lymphocytopenia, Small for gestational age, Supraventricular arrhythmia, Microcytic anemia |
ORPHA:2959 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Bradycardia, Large for gestational age |
ORPHA:226313 |
Alg8-Cdg |
|
Hyponatremia, Anemia, Intrauterine growth retardation, Ascites, Thrombocytopenia |
ORPHA:79325 |
Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Respiratory failure, Elevated circulating creatine kinase concentration |
OMIM:620166 |
Hurler-Scheie Syndrome |
|
Hepatomegaly, Short stature, Abnormality of the tonsils, Splenomegaly, Rhinitis |
ORPHA:93476 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Copper accumulation in liver, Anemia, Growth delay, Elevated hepatic iron concentration, Increase... |
OMIM:614946 |
Muscular Dystrophy, Duchenne Type |
|
Hypoventilation, Elevated circulating creatine kinase concentration, Respiratory insufficiency du... |
OMIM:310200 |
Intestinal Dysmotility Syndrome |
|
Failure to thrive, Weight loss |
OMIM:620045 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Bradycardia |
OMIM:614498 |
Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Cardiomyopathy, Bradycardia, Palpitation... |
OMIM:615745 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Giant cell hepatitis, Extramedullary hematopoiesis, Conjugated hyperbilirubinemia, Steatorrhea, H... |
ORPHA:79303 |
Abetalipoproteinemia |
|
Reticulocytosis, Hepatomegaly, Decreased HDL cholesterol concentration, Cardiomegaly, Acanthocyto... |
ORPHA:14 |
Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Short stature, Cryptorchidism, Reticulocytopenia, Anemia, Bone marrow hypocellulari... |
OMIM:227645 |
Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Respiratory failure, Apnea, Central hypoventilation |
OMIM:618233 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... |
ORPHA:216694 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Wide anterior fontanel, Patent ductus arteriosus, Hyperbilirubinemia, Elevated circulating long c... |
OMIM:614886 |
Postinfectious Vasculitis |
|
Abnormal circulating protein concentration, Viral hepatitis, Inflammatory abnormality of the skin... |
ORPHA:48435 |
Hypocomplementemic Urticarial Vasculitis |
|
Hepatomegaly, Splenomegaly, Dyspnea, Lymphadenopathy, Pleural effusion, Restrictive ventilatory d... |
ORPHA:36412 |
Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia |
ORPHA:75234 |
Developmental And Epileptic Encephalopathy 101 |
|
Third degree atrioventricular block, Bradycardia |
OMIM:619814 |
Congenital Tracheomalacia |
|
Apnea, Decreased peak expiratory flow, Cough, Emphysema, Neonatal respiratory distress, Intercost... |
ORPHA:95430 |
Mercury Poisoning |
|
Respiratory distress, Dyspnea, Interstitial pneumonitis, Hypokalemia, Respiratory failure |
ORPHA:330021 |
Glutamine Deficiency, Congenital |
|
Bradycardia |
OMIM:610015 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Eosinophilia, Disproportionate short stature, Decreased circulating antibody level, Lymphopenia, ... |
OMIM:617425 |
Bronchogenic Cyst |
|
Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Atelectasis, Dyspnea, Cough, Bronchogenic ... |
ORPHA:2357 |
Pelizaeus-Merzbacher Disease |
|
Failure to thrive in infancy, Cachexia |
ORPHA:702 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... |
OMIM:619897 |
Fixed Subaortic Stenosis |
|
Aortic regurgitation, Orthopnea, Paroxysmal atrial fibrillation, Angina pectoris, Dyspnea, Conges... |
ORPHA:3092 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Hepatomegaly, Short stature, Elevated circulating creatine kinase concentration, Cryptorchidism, ... |
OMIM:301056 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Elevated circulating cr... |
ORPHA:308552 |
Kikuchi-Fujimoto Disease |
|
Hepatomegaly, Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration,... |
ORPHA:50918 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Purpura, Subcutaneous hemorrhage, Pulmonary embolism |
ORPHA:743 |
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Purpura, Pulmonary embolism |
ORPHA:745 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Giant cell hepatitis, Hematochezia, Decreased serum bile acid concentration, Hyperbilirubinemia, ... |
OMIM:214950 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy... |
OMIM:609945 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Fasciitis, Sinusitis, Myositis, Tachypnea, Ecchymosis, Infectious encephali... |
ORPHA:36234 |
Fusariosis |
|
Fasciitis, Sinusitis, Maculopapular exanthema, Myositis, Pneumonia, Productive cough, Keratitis, ... |
ORPHA:228119 |
Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Cough, Neutro... |
ORPHA:3260 |
Microvillus Inclusion Disease |
|
Abdominal distention, Villous atrophy, Abnormal small intestinal villus morphology, Diarrhea |
ORPHA:2290 |
Complete Atrioventricular Septal Defect |
|
Abnormal EKG, Tachycardia, Left-to-right shunt, Intercostal retractions, Crackles, Right ventricu... |
ORPHA:1329 |
Joubert Syndrome 33 |
|
Splenomegaly, Apnea |
OMIM:617767 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B... |
ORPHA:1414 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Intrauterine growth retardation, Elevated circulating creatine kinase concentration, Anemia, Card... |
OMIM:618838 |
Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Short stature, Elevated circulating C-reactive protein concentration,... |
ORPHA:355 |
Hyperlipoproteinemia, Type Id |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Splenomegaly, Pancreatitis, Decrea... |
OMIM:615947 |
Pleural Mesothelioma |
|
Hepatomegaly, Weight loss, Lymphadenopathy |
ORPHA:50251 |
Nijmegen Breakage Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Recurrent sinopulmonary infections, Short stature,... |
ORPHA:647 |
Orofaciodigital Syndrome Viii |
|
Hamartoma, Recurrent aspiration pneumonia |
OMIM:300484 |
Netherton Syndrome |
|
Recurrent respiratory infections, Short stature, Asthma, Increased circulating IgE level, Decreas... |
ORPHA:634 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Neonatal respiratory distress, Apnea, Elevated circulating creatine kinase concentr... |
OMIM:608836 |
Muckle-Wells Syndrome |
|
Hepatomegaly, Short stature, Splenomegaly, Restrictive ventilatory defect, Delayed puberty, Anemia |
ORPHA:575 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Lymphadenitis, Salmonella osteomyelitis, Vasculitis in the skin, Pneumonia |
ORPHA:319552 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Recurrent respiratory infections, Pneumonia, Cryptorchidism, Abnormal respiratory system physiolo... |
ORPHA:98905 |
Igg4-Related Ophthalmic Disease |
|
Sinusitis, Eosinophilia, Cholangitis, Elevated circulating C-reactive protein concentration, Orch... |
ORPHA:449563 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Hypertriglyceridemia, Postnatal growth retardation, Splenomegaly, Growth delay, Bil... |
OMIM:613027 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Short femur, Joint hypermobility, Genu valgum |
OMIM:617798 |
Syndromic Diarrhea |
|
Hepatomegaly, Short stature, Increased mean platelet volume, Splenomegaly, Abnormality of the liv... |
ORPHA:84064 |
Osteopetrosis, Autosomal Recessive 9 |
|
Hyperparathyroidism, Postnatal growth retardation, Elevated circulating creatinine concentration,... |
OMIM:620366 |
Autoimmune Polyendocrinopathy Type 4 |
|
Macrocytic anemia, Autoimmune thrombocytopenia, Biliary cirrhosis, Anterior pituitary dysgenesis,... |
ORPHA:227990 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Pancytopenia, Aplastic anemia, Hepatic fibrosis, Bone marrow hypocellularity, Pulmonary fibrosis,... |
OMIM:224230 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, M... |
OMIM:615508 |
Metatropic Dysplasia |
|
Severe short stature, Disproportionate short-trunk short stature, Respiratory insufficiency, Resp... |
OMIM:156530 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Pericardial effusion, Anasarca, Peripheral edema, Pleural effusion, Ascites, Pulmonary edema |
OMIM:261740 |
Sapho Syndrome |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Malabsorption, Abdominal pain, Pustule, ... |
ORPHA:793 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Respiratory failure |
OMIM:618240 |
Thrombocytopenia 6 |
|
Spontaneous, recurrent epistaxis, Thrombocytopenia |
OMIM:616937 |
Autoimmune Polyendocrinopathy Type 3 |
|
Macrocytic anemia, Autoimmune hypoparathyroidism, Autoimmune thrombocytopenia, Biliary cirrhosis,... |
ORPHA:227982 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati... |
ORPHA:88618 |
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production |
OMIM:166910 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Respiratory insufficiency, Elevated circulating 2-hydroxybutyric acid concentration, Respiratory ... |
OMIM:605711 |
Oculodentodigital Dysplasia |
|
Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Short hallux, Aplasia/Hypoplasia of t... |
ORPHA:2710 |
Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Short stature, Cryptorchidism, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Th... |
OMIM:600901 |
Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Hepatomegaly, Short stature, Neutropenia, Hyperechogenic pancreas, Thrombocyto... |
OMIM:617941 |
Elliptocytosis 2 |
|
Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis |
OMIM:130600 |
Tetanus |
|
Hypertension, Tachycardia, Bradycardia |
ORPHA:3299 |
Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
Thalidomide Embryopathy |
|
Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra... |
ORPHA:3312 |
Silver-Russell Syndrome |
|
Failure to thrive in infancy, Cachexia, Cryptorchidism, Obesity, Decreased testicular size |
ORPHA:813 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Hydrocele testis, Intrauterine growth retardation, Congenital adrenal hyperplasia, Thrombocytopenia |
ORPHA:96181 |
Idiopathic Pulmonary Arterial Hypertension |
|
Tricuspid regurgitation, Increased pulmonary vascular resistance, Dyspnea, Congestive heart failu... |
ORPHA:275766 |
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Recurrent aspiration pneumonia |
OMIM:619971 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Increased circulating IgE level |
ORPHA:89843 |
Acute Generalized Exanthematous Pustulosis |
|
Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Lymphadenopathy, Neutropenia |
ORPHA:293173 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Short stature, Postnatal growth retardation, Anemia, Bone marrow hypocellularity, Pulmonary fibro... |
OMIM:612199 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Acute pancreatitis, Elevated circulating creatine kinase concentration, Elevated ci... |
ORPHA:26791 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Finger syndactyly, Increased bone mineral density, Aplastic clavicle, Abnormal metacarpal morphol... |
ORPHA:2658 |
Chronic Hiccup |
|
Weight loss |
ORPHA:396 |
Caroli Syndrome |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Hypersplenism,... |
ORPHA:480520 |
Budd-Chiari Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonitis, Weight loss, Cholecystiti... |
ORPHA:131 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly |
ORPHA:664 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Methylmalonic acidemia, Short humerus, Recurrent respiratory infections, Short femur, Patent duct... |
ORPHA:17 |
Martinez-Frias Syndrome |
|
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Tracheoesophageal fistula, Duoden... |
OMIM:601346 |
Brain-Lung-Thyroid Syndrome |
|
Thyroid dysgenesis, Hypoparathyroidism, Recurrent respiratory infections, Respiratory distress, S... |
ORPHA:209905 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Eczema, Abdominal pa... |
OMIM:615895 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Hyperparathyroidism, Hypercalcemia, Anemia |
ORPHA:2668 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Abnormality of the liver, Hypocalcemia, Ne... |
ORPHA:699 |
Say-Barber-Miller Syndrome |
|
Craniosynostosis, Micrognathia, Talipes equinovalgus, Transient hypogammaglobulinemia of infancy,... |
ORPHA:3132 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Calf muscle pseudohypertrophy, Abetalipoproteinemia, Elevated circulating creatine kinase concent... |
ORPHA:96180 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Hemolytic anemia, Brain abscess, Increased circulating interleukin 6 concentration,... |
ORPHA:544482 |
Microsporidiosis |
|
Brain abscess, Cholangitis, Cachexia, Abnormality of the spleen, Lymphadenitis, Peritonitis, Bili... |
ORPHA:2552 |
Vici Syndrome |
|
Decreased circulating IgG level, Recurrent respiratory infections, Left ventricular hypertrophy, ... |
OMIM:242840 |
Adams-Oliver Syndrome |
|
Portal hypertension, Congenital hepatic fibrosis, Leukopenia, Cirrhosis, Pulmonary artery atresia... |
ORPHA:974 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro... |
OMIM:602347 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Respiratory failure, Pulmonary hypoplasia |
OMIM:617895 |
D-Glyceric Aciduria |
|
Failure to thrive, Bradycardia |
OMIM:220120 |
Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Short stature, Cryptorchidism, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Th... |
OMIM:227650 |
Leigh Syndrome |
|
Hyperalaninemia, Growth delay, Respiratory failure, Neutropenia, Intrauterine growth retardation,... |
ORPHA:506 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Cryptorchidism, Secretory diarrhea, Decreased circulating ant... |
OMIM:618183 |
Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Pancytopenia, Hepatomegaly, Pancreatic fibrosis, Thrombocytopenia, Reticulo... |
OMIM:557000 |
Vexas Syndrome |
|
Macrocytic anemia, Elevated circulating C-reactive protein concentration, Thrombocytopenia |
OMIM:301054 |
Proximal Spinal Muscular Atrophy |
|
Hypoventilation, Neonatal respiratory distress, Recurrent infections due to aspiration, Respirato... |
ORPHA:70 |
Cocaine Intoxication |
|
Pulmonary edema, Pneumothorax, Elevated circulating creatine kinase concentration, Diffuse alveol... |
ORPHA:90068 |
Hughes-Stovin Syndrome |
|
Pulmonary embolism, Dyspnea, Vasculitis, Cardiorespiratory arrest, Cough, Pulmonary artery aneury... |
ORPHA:228116 |
Poikiloderma With Neutropenia |
|
Short stature, Elevated circulating creatine kinase concentration, Splenomegaly, Recurrent bronch... |
OMIM:604173 |
Myelofibrosis |
|
Splenomegaly, Myeloproliferative disorder |
OMIM:254450 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Failure to thrive |
OMIM:235555 |
Truncus Arteriosus |
|
Anomalous origin of one pulmonary artery from ascending aorta, Patent ductus arteriosus, Pulmonar... |
ORPHA:3384 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
OMIM:609015 |
Hennekam Syndrome |
|
Lymphopenia, Recurrent respiratory infections, Mild postnatal growth retardation, Splenomegaly, P... |
ORPHA:2136 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Brain abscess, Central apnea, Severe short stature, Rhizomelia, Disproporti... |
OMIM:616482 |
Hereditary Hyperekplexia |
|
Gastroesophageal reflux, Esophagitis, Hiatus hernia |
ORPHA:3197 |
Listeriosis |
|
Respiratory distress, Brain abscess, Liver abscess, Abscess, Pneumonia, Jaundice, Peritonitis, Ab... |
ORPHA:533 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Short stature, Rhizomelia, Postnatal growth retardation, Cryptorchidism, Giant platelets, Anemia,... |
OMIM:611209 |
Isaacs Syndrome |
|
Weight loss |
ORPHA:84142 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Increased circulating ferritin concentration, Increased... |
OMIM:235200 |
Isolated Sedoheptulokinase Deficiency |
|
Short stature, Portal hypertension, Neonatal asphyxia, Hepatitis, Cholestasis, Hypochromic microc... |
ORPHA:440713 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ... |
OMIM:106300 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, Lymphadenopath... |
ORPHA:85414 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Intrauterine growth retardation, Thrombocytopenia |
OMIM:617710 |
Braddock-Carey Syndrome 1 |
|
Growth delay, Thrombocytopenia |
OMIM:619980 |
Chronic Granulomatous Disease |
|
Recurrent respiratory infections, Hepatomegaly, Liver abscess, Abnormality of neutrophils, Spleno... |
ORPHA:379 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Atelectasis, Respiratory insufficiency, Highly elevated creatine kinase, Respira... |
ORPHA:258 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Reduced vital capacity, Osteomyelitis, Cardiac shunt, Pulmonary embolism, Increased pulmonary vas... |
ORPHA:70591 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Impaired T cell function, Splenomegaly, Failure to thrive, Decreased testicular size |
OMIM:201100 |
Hereditary Hemorrhagic Telangiectasia |
|
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Transient ischemic attack, Epistaxis, P... |
ORPHA:774 |
Tangier Disease |
|
Orange discolored tonsils, Hypertriglyceridemia, Chronic noninfectious lymphadenopathy, Hepatospl... |
ORPHA:31150 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
T lymphocytopenia, Abnormal B cell morphology, Pulmonic stenosis, Aplasia of the thymus |
OMIM:618223 |
Stevens-Johnson Syndrome |
|
Recurrent respiratory infections, Abnormal pleura morphology, Abnormality of neutrophils, Thrombo... |
ORPHA:36426 |
Ciliary Dyskinesia, Primary, 20 |
|
Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur... |
OMIM:615067 |
Benign Recurrent Intrahepatic Cholestasis |
|
Jaundice, Weight loss, Acholic stools, Cholestatic liver disease, Cirrhosis, Hepatocellular carci... |
ORPHA:65682 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Short stature, Elevated circulating creatine kinase concentration, Hypophosphatemia, Anemia, Hypo... |
OMIM:619743 |
Spastic Paraplegia Type 2 |
|
Recurrent respiratory infections, Pulmonary embolism |
ORPHA:99015 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 |
|
Pneumonia |
OMIM:608033 |
Familial Thyroid Dyshormonogenesis |
|
Bradycardia |
ORPHA:95716 |
Glossopharyngeal Neuralgia |
|
Syncope, Jaw claudication, Bradycardia, Weight loss |
ORPHA:221098 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis |
ORPHA:59303 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Pulmonary embolism, Abnorm... |
ORPHA:447 |
Osteopetrosis With Renal Tubular Acidosis |
|
Hepatomegaly, Pancytopenia, Short stature, Elevated circulating creatine kinase concentration, En... |
ORPHA:2785 |
Oculogastrointestinal Muscular Dystrophy |
|
Cachexia |
ORPHA:1876 |
Toxic Epidermal Necrolysis |
|
Respiratory distress, Recurrent respiratory infections, Abnormal pleura morphology, Cough, Anemia... |
ORPHA:537 |
8Q24.3 Microdeletion Syndrome |
|
Congenital hip dislocation, Micromelia, Abnormal lung lobation, Finger clinodactyly, Clinodactyly... |
ORPHA:508488 |
Aicardi-Goutieres Syndrome 1 |
|
Hepatomegaly, Short stature, Splenomegaly, Prolonged neonatal jaundice, Thrombocytopenia |
OMIM:225750 |
Loeffler Endocarditis |
|
Left ventricular hypertrophy, Eosinophilia, Weight loss |
ORPHA:75566 |
Congenital Myopathy 22A, Classic |
|
Tricuspid regurgitation, Bradycardia |
OMIM:620351 |
Cleft Velum |
|
Recurrent otitis media, Aspiration pneumonia |
ORPHA:99772 |
Isolated Anencephaly |
|
Thymus hyperplasia |
ORPHA:563609 |
Duodenal Atresia |
|
Duodenal atresia |
OMIM:223400 |
Frank-Ter Haar Syndrome |
|
Osteopenia, Bowing of the long bones, Micrognathia, Metatarsus adductus, Wide anterior fontanel, ... |
OMIM:249420 |
Kaposi Sarcoma |
|
Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy, Weight loss |
ORPHA:33276 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Central apnea, Respiratory failure, Respiratory insufficiency due to muscle weakness |
OMIM:618291 |
Pseudo-Torch Syndrome 1 |
|
Splenomegaly, Jaundice, Thrombocytopenia, Hepatomegaly |
OMIM:251290 |
Catel-Manzke Syndrome |
|
Joint laxity, Short humerus, Short metacarpal, Short femur, Micrognathia, Short toe, Genu valgum,... |
OMIM:616145 |
Holocarboxylase Synthetase Deficiency |
|
Hyperammonemia, Tachypnea, Thrombocytopenia, Hyperventilation |
OMIM:253270 |
Spinocerebellar Ataxia Type 1 |
|
Respiratory failure |
ORPHA:98755 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Tachycardia |
ORPHA:90036 |
Osteogenesis Imperfecta |
|
Osteopenia, Micromelia, Micrognathia, Abnormal tibia morphology, Flexion contracture, Osteoarthri... |
ORPHA:666 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Lymphopenia, Short stature |
ORPHA:391307 |
X-Linked Creatine Transporter Deficiency |
|
Cachexia |
ORPHA:52503 |
Cog8-Cdg |
|
Skeletal muscle atrophy, Protein-losing enteropathy |
ORPHA:95428 |
Ivic Syndrome |
|
Leukocytosis, Severe short stature, Thrombocytopenia |
ORPHA:2307 |
Acquired Von Willebrand Syndrome |
|
Gastrointestinal hemorrhage, Epistaxis, Intracranial hemorrhage, Melena, Prolonged prothrombin ti... |
ORPHA:99147 |
Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Foot joint contracture, Anal fissure, Glomerulonephritis, Recurrent skin infections, Flexion cont... |
ORPHA:79408 |
Fanconi Anemia, Complementation Group B |
|
Aplastic anemia, Abnormal lung lobation, Growth delay, Intrauterine growth retardation, Thrombocy... |
OMIM:300514 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hepatomegaly, Hypercalcemia, Splenomegaly, Dyspnea, Primary hyperparathyroidism, Tach... |
OMIM:239200 |
Oculoskeletodental Syndrome |
|
Hypercalcemia, Cryptorchidism, Splenomegaly, Elbow flexion contracture, Macroglossia, Protein-los... |
OMIM:618440 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Hepatomegaly, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy |
OMIM:619183 |
Absence Of The Pulmonary Artery |
|
Recurrent respiratory infections, Patent ductus arteriosus, Recurrent pneumonia, Bronchiectasis, ... |
ORPHA:980 |
Infantile Krabbe Disease |
|
Failure to thrive, Cachexia |
ORPHA:206436 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Short stature, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytop... |
ORPHA:124 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Stridor, Respiratory failure, Paroxysmal dyspnea |
ORPHA:444013 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Autoimmune thrombocytopenia, Raynaud phenomenon, T lymphocytopenia, Neutropenia, Lymphopenia |
OMIM:607944 |
X-Linked Intellectual Disability, Cabezas Type |
|
Decreased testicular size, Cachexia, Obesity |
ORPHA:85293 |
Pyropoikilocytosis, Hereditary |
|
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis |
OMIM:266140 |
Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Stridor, Respiratory failure, Intercostal muscle weakness |
OMIM:606071 |
Vacterl Association With Hydrocephalus |
|
Respiratory failure, Respiratory insufficiency |
OMIM:276950 |
Hermansky-Pudlak Syndrome 10 |
|
Hepatomegaly, Recurrent respiratory infections, Apnea, Splenomegaly, Abnormal pulmonary interstit... |
OMIM:617050 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress, Hepatomegaly, Severe B lymphocytopenia, Biliary hyperplasia, Cryptorchidism... |
ORPHA:83617 |
Amyotrophic Lateral Sclerosis |
|
Dyspnea, Respiratory failure, Abnormal respiratory system physiology |
ORPHA:803 |
Aapoaiv Amyloidosis |
|
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab... |
ORPHA:439232 |
Psoriasis 14, Pustular |
|
Leukocytosis, Neutrophilia, Cholangitis |
OMIM:614204 |
Zygomycosis |
|
Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo... |
ORPHA:73263 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Cachexia |
ORPHA:300605 |
Spondyloocular Syndrome |
|
Osteopenia, Long toe, Pes planus, Arachnodactyly, Femur fracture, Overlapping toe, Lymphedema, Lo... |
OMIM:605822 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Hepatomegaly, Increased circulating IgA level, Peritonitis, Lymphadenopathy, Growth delay |
ORPHA:343 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopenia |
OMIM:605432 |
Urban-Rogers-Meyer Syndrome |
|
Cryptorchidism, Increased circulating IgE level, Short stature |
ORPHA:3409 |
Recon Progeroid Syndrome |
|
Growth delay, Thrombocytopenia, Short stature, Anemia |
OMIM:620370 |
Nocardiosis |
|
Respiratory distress, Brain abscess, Liver abscess, Pneumonia, Productive cough, Lymphadenitis, P... |
ORPHA:31204 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Giant cell hepatitis, Hepatic melanin-like lysosomal pigmentation, Conjugated hyperbilirubinemia,... |
OMIM:208085 |
Scorpion Envenomation |
|
Increased circulating NT-proBNP concentration, Edema, Hypokalemia, Increased circulating creatine... |
ORPHA:466677 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... |
ORPHA:75565 |
Congenital Disorder Of Glycosylation, Type Im |
|
Failure to thrive, Dilated cardiomyopathy, Bradycardia |
OMIM:610768 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Cryptorchidism, Splenomegaly, Abdominal distention, Cleft palate, High palate, Hypocalcemia, Prot... |
OMIM:235255 |
Thymic Neuroendocrine Tumor |
|
Pancreatic islet cell adenoma, Chronic noninfectious lymphadenopathy, Pituitary null cell adenoma... |
ORPHA:97289 |
Fanconi Renotubular Syndrome 5 |
|
Decreased DLCO, Pulmonary fibrosis, Hypophosphatemia, Hypophosphatemic rickets, Emphysema, Lung a... |
OMIM:618913 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Short stature, Elevated circulating creatine kinase concentra... |
ORPHA:264580 |
Rett Syndrome |
|
Cachexia |
OMIM:312750 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Pleural effusion, Hypoalbuminemia, Thrombocytopenia, Normochromic anemia |
OMIM:254900 |
Weill-Marchesani Syndrome 1 |
|
Thin bony cortex, Joint stiffness, Patent ductus arteriosus, Broad phalanges of the hand, Broad m... |
OMIM:277600 |
Juvenile Polyposis Syndrome |
|
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Protein... |
ORPHA:2929 |
Noonan Syndrome 9 |
|
Prolonged prothrombin time |
OMIM:616559 |
Nodular Non-Suppurative Panniculitis |
|
Splenomegaly, Weight loss, Hepatomegaly |
ORPHA:33577 |
Fryns-Smeets-Thiry Syndrome |
|
Cachexia |
ORPHA:2058 |
Orthostatic Hypotension 2 |
|
Anemia |
OMIM:618182 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Short stature, Elevated circulating creatine kinase concentra... |
ORPHA:79240 |
Medullary Thyroid Carcinoma |
|
Primary hyperparathyroidism, Abnormal liver parenchyma morphology, Lymphadenopathy, Weight loss, ... |
ORPHA:1332 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hemolytic anemia, Hepatomegaly, Short stature, Conjugated hyperbilirubinemia, Splenomegaly, Jaund... |
OMIM:608885 |
Dyskeratosis Congenita |
|
Neoplasm of the pancreas, Hepatomegaly, Recurrent respiratory infections, Short stature, Abnormal... |
ORPHA:1775 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Elevated circulating acylcarnitine concentration, Hyperammonemia, Decreased circulating carnitine... |
ORPHA:99901 |
Pericardial And Diaphragmatic Defect |
|
Intestinal malrotation, Congenital diaphragmatic hernia, Aplasia of the left hemidiaphragm, Mecke... |
ORPHA:2847 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Respiratory failure |
OMIM:616505 |
Neutrophilic Dermatosis, Acute Febrile |
|
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... |
OMIM:608068 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Cholestasis, Respiratory insufficiency, Respiratory failure, Hypocalcemia, Le... |
ORPHA:746 |
Dermatomyositis |
|
Recurrent respiratory infections, Abnormal eosinophil morphology, Abnormal pulmonary interstitial... |
ORPHA:221 |
Thymic Carcinoma |
|
Neoplasm of the thymus, Mediastinal lymphadenopathy, Weight loss |
ORPHA:99868 |
Bone Dysplasia, Lethal Holmgren Type |
|
Hepatomegaly, Failure to thrive, Anemia, Weight loss |
ORPHA:1842 |
Xfe Progeroid Syndrome |
|
Failure to thrive, Ascites, Cachexia |
OMIM:610965 |
Sarcoidosis |
|
Increased T cell count, Abnormal lung morphology, Leukopenia, Cough, Emphysema, Hemolytic anemia,... |
ORPHA:797 |
Cartilage-Hair Hypoplasia |
|
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Absent pubertal gr... |
OMIM:250250 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Hyperalaninemia, Cryptorchidism, Respiratory failure, Short stature |
OMIM:619847 |
Sandestig-Stefanova Syndrome |
|
Intrauterine growth retardation, Respiratory failure |
OMIM:618804 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Hyperextensibility of the finger joints, Recurrent fractures, Long fingers, Osteoporosis, Talipes... |
OMIM:309583 |
Joubert Syndrome 21 |
|
Apnea, Dyspnea, Splenomegaly, Respiratory failure, Pulmonary hypoplasia, Chronic sinusitis |
OMIM:615636 |
Wilson Disease |
|
Hypoparathyroidism, Hemolytic anemia, Hepatomegaly, Decreased circulating ceruloplasmin concentra... |
OMIM:277900 |
Oculopharyngodistal Myopathy |
|
Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Recurrent aspir... |
ORPHA:98897 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Respiratory failure requiring assisted ventilation, Cardiomegaly, Tachypnea, Anomal... |
ORPHA:555874 |
Klatskin Tumor |
|
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy, Weight loss |
ORPHA:99978 |
Attrv30M Amyloidosis |
|
Weight loss, Cardiomegaly |
ORPHA:85447 |
Arthrogryposis Multiplex Congenita 6 |
|
Respiratory failure |
OMIM:619334 |
Fibrodysplasia Ossificans Progressiva |
|
Respiratory failure, Respiratory insufficiency |
OMIM:135100 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Bradycardia |
ORPHA:565624 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ... |
ORPHA:53035 |
Severe Congenital Nemaline Myopathy |
|
Respiratory failure, Pulmonary hypoplasia |
ORPHA:171430 |
Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Pancytopenia, Short stature, Cryptorchidism, Anemia, Leukopenia, Restrict... |
OMIM:305000 |
Serkal Syndrome |
|
Malrotation of small bowel, Congenital diaphragmatic hernia |
ORPHA:139466 |
Porphyria, Congenital Erythropoietic |
|
Hemolytic anemia, Hepatomegaly, Short stature, Splenomegaly, Jaundice, Elevated circulating uropo... |
OMIM:263700 |
Igg4-Related Thyroid Disease |
|
Pancreatic fibrosis, Increased circulating IgG4 level, Retroperitoneal fibrosis, Abnormal pituita... |
ORPHA:64744 |
Histiocytoid Cardiomyopathy |
|
Pulmonary edema |
ORPHA:137675 |
Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Short stature, Cryptorchidism, Annular pancreas, Reticulocytopenia, Anemia, Bone ma... |
OMIM:227646 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Hypomethioninemia, Respiratory distress, Megaloblastic anemia, Pulmonary ... |
ORPHA:79282 |
Glycogen Storage Disease Ii |
|
Hepatomegaly, Recurrent respiratory infections, Increased circulating NT-proBNP concentration, El... |
OMIM:232300 |
Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Long toe, Short humerus, Hypertriglyceridemia, Short femur, Camptodactyly of finger, ... |
ORPHA:3455 |
Birt-Hogg-Dubé Syndrome |
|
Emphysema, Pneumothorax, Pulmonary sequestration |
ORPHA:122 |
Diamond-Blackfan Anemia 7 |
|
Small hypothenar eminence, Macrocytic anemia, Cleft palate, Increased mean corpuscular volume, Es... |
OMIM:612562 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Pancytopenia, Cachexia, Abnormality of the spleen, Splenomegaly, Hepatosplenomegaly, Anemia, Hepa... |
ORPHA:2072 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Pericardial effusion, Hypocalcemia, Hypomagnesemia, Hypocalcemic tetany, Pulmonary edema |
ORPHA:73224 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt... |
OMIM:616959 |
Stiff-Person Syndrome |
|
Hypertension, Tachycardia, Anemia |
OMIM:184850 |
Wiedemann-Rautenstrauch Syndrome |
|
Long toe, Short humerus, Recurrent respiratory infections, Hypertriglyceridemia, Short femur, Pne... |
OMIM:264090 |
Digeorge Syndrome |
|
Parathyroid agenesis, Short stature, Impaired T cell function, Splenomegaly, Atelectasis, Recurre... |
OMIM:188400 |
Copper Deficiency, Familial Benign |
|
Decreased circulating copper concentration, Anemia |
OMIM:121270 |
Camurati-Engelmann Disease |
|
Hepatomegaly, Cachexia, Splenomegaly, Leukopenia, Slender build, Anemia |
ORPHA:1328 |
Graves Disease, Susceptibility To, 1 |
|
Abnormal abdomen morphology, Weight loss, Goiter |
OMIM:275000 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Growth delay, Dyspnea, Respiratory failure, Respiratory distress |
ORPHA:2707 |
C3 Glomerulopathy |
|
Decreased circulating complement C3 concentration, Paraproteinemia, Elevated circulating creatini... |
ORPHA:329918 |
Weill-Marchesani Syndrome 2 |
|
Short metacarpal, Thin bony cortex, Joint stiffness, Patent ductus arteriosus, Short metatarsal, ... |
OMIM:608328 |
Herpes Simplex Virus Encephalitis |
|
Leukocytosis, Neutrophilia |
ORPHA:1930 |
Erythema Elevatum Diutinum |
|
Increased circulating antibody level |
ORPHA:90000 |
Lethal Congenital Contracture Syndrome 2 |
|
Respiratory failure |
OMIM:607598 |
Mcleod Syndrome |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Acanthocytosis, Splenomegaly, R... |
OMIM:300842 |
Diamond-Blackfan Anemia 21 |
|
Erythroid hypoplasia, Thrombocytopenia, Short stature, Anemia |
OMIM:620072 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Restrictive ventilatory defect, Pneumonia |
OMIM:253700 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Respiratory insufficiency, Apnea, Bronchiectasis, Aspiration pneumonia |
OMIM:618253 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Apnea, Splenomegaly, Respiratory insufficiency, Growth delay, Respiratory failure, ... |
OMIM:252010 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Respiratory insufficiency, Respiratory failure, Hypoalbuminemia, Bile duct proliferation, Macrove... |
OMIM:618329 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Short stature, Postnatal growth retardation, Anemia, Hypoplastic nipples, Thrombocytopenia |
ORPHA:261323 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Cryptorchidism, Splenomegaly, Abdominal distention, Hepatosplenomegaly, High palate, Hypocalcemia... |
ORPHA:1655 |
Congenital Erythropoietic Porphyria |
|
Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Abnormal circulating porphyrin con... |
ORPHA:79277 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Failure to thrive, Splenomegaly, Intrahepatic cholestasis, Jaundice, Hepatitis, Ach... |
OMIM:613812 |
Niemann-Pick Disease Type C |
|
Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Jaundice, Abnormal lung morpho... |
ORPHA:646 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Lymphadenopathy, Leukopenia, Decreased circulating complement C3 concentration,... |
ORPHA:536 |
Faciocardiomelic Syndrome |
|
Osteopenia, Micrognathia, Slender long bone, Polydactyly, Hypoplastic pelvis, Thin bony cortex |
OMIM:612731 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Microvesicular hepatic steatosis, Thrombocytopenia |
OMIM:611126 |
Dubowitz Syndrome |
|
Hypoparathyroidism, Short stature, Abnormality of neutrophils, Postnatal growth retardation, Cryp... |
ORPHA:235 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Hepatomegaly, Decreased hemoglobin concentration, Neonatal respiratory distress, Cryptorchidism, ... |
OMIM:619005 |
Cowden Syndrome 1 |
|
Decreased circulating antibody level, Hydrocele testis, Ovarian cyst, Ovarian carcinoma, Lymphope... |
OMIM:158350 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Diffuse leiomyomatosis, Vulvar... |
ORPHA:1018 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Cystathioni... |
OMIM:277400 |
Microgastria-Limb Reduction Defect Syndrome |
|
Congenital muscular torticollis, Intestinal malrotation, Hiatus hernia, Esophageal atresia, Abnor... |
ORPHA:2538 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Accessory spleen, Atelectasis, Recurrent pneumonia, Growth delay, Hypoplasia of the thymus, Pulmo... |
OMIM:613177 |
Reni Syndrome |
|
Cryptorchidism, Lymphopenia, Hypoalbuminemia, Hypertriglyceridemia |
OMIM:617575 |
Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Short stature, Increased mean platelet volume, Splenomegaly, Abnormality of the pan... |
OMIM:222470 |
Anemia, Congenital Dyserythropoietic, Type Iiia |
|
Macrocytic anemia, Reduced haptoglobin level, Anemia of inadequate production, Congenital hypopla... |
OMIM:105600 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t... |
OMIM:276820 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Splenomegaly, Dyspnea, Increased mean corpuscular hemoglobin concentration,... |
ORPHA:90041 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Prolonged QT interval, Inflammatory abnormality of the skin, Tachycardia, P... |
ORPHA:26793 |
Bartter Syndrome, Type 2, Antenatal |
|
Impaired platelet aggregation |
OMIM:241200 |
Acquired Hypertrichosis Lanuginosa |
|
Ovarian neoplasm, Weight loss, Lymphadenopathy |
ORPHA:2221 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Postnatal growth retardation, Intrauterine growth retardation, Thrombocytopenia |
OMIM:612394 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Pneumonia, Anorexia, Oral-phar... |
ORPHA:95455 |
Diamond-Blackfan Anemia 10 |
|
Respiratory distress, Macrocytic anemia, Short stature, Reticulocytopenia, Growth delay, Steroid-... |
OMIM:613309 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Tachycardia, Apnea, Episodic tachypnea, Aspiration pneumonia |
ORPHA:79264 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Bradycardia |
OMIM:608800 |
Huntington Disease-Like 2 |
|
Weight loss |
OMIM:606438 |
Erythrokeratodermia Variabilis |
|
Abnormal testis morphology, Weight loss |
ORPHA:317 |
Illum Syndrome |
|
Bradycardia |
OMIM:208155 |
Radio-Renal Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion |
ORPHA:3015 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Respiratory failure |
ORPHA:1861 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Respiratory failure, Increased circulating very long-chain fatty acid concentration |
OMIM:614862 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Hepatomegaly, Orthopnea, Elevated circulating creatine kinase concentration... |
ORPHA:365 |
Onychotrichodysplasia And Neutropenia |
|
Lymphocytosis, Chronic neutropenia, Neutropenia |
OMIM:258360 |
Hereditary Bullous Dystrophy, Macular Type |
|
Pneumonia, Heart murmur |
ORPHA:1867 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Respiratory failure requiring assisted ventilation, Elevated circulating creatine kinase concentr... |
ORPHA:496641 |
Cryptococcosis |
|
Respiratory distress, Osteomyelitis, Lymphoid leukemia, Pneumonia, Nodular pattern on pulmonary H... |
ORPHA:1546 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Bronchiectasis, Knee flexion contracture, Inflammation of the large intestine, Rectovaginal fistu... |
OMIM:619708 |
Gist-Plus Syndrome |
|
Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis |
OMIM:175510 |
Infantile Liver Failure Syndrome 3 |
|
Hepatomegaly, Short stature, Splenomegaly, Jaundice, Cholestasis, Hyperammonemia, Hepatic bridgin... |
OMIM:618641 |
Pelvis-Shoulder Dysplasia |
|
Syndactyly, Aplasia/Hypoplasia of the ribs, Aplasia/Hypoplasia of the clavicles, Camptodactyly of... |
ORPHA:2839 |
Familial Thrombocytosis |
|
Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Weight loss, Thrombocytosis |
ORPHA:71493 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Hepatomegaly, Short stature, Splenomegaly, Micronodular cirrhosis, Aspiration pneumonia, Ascites,... |
OMIM:301072 |
Nephroblastoma |
|
Neoplasm of the liver, Weight loss, Lymphadenopathy |
ORPHA:654 |
Noonan Syndrome 4 |
|
Cryptorchidism, Short stature, Thrombocytopenia |
OMIM:610733 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Abnormal blood ion concentration, Growth ... |
ORPHA:79404 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Pulmonary edema, Simplified gyral pattern, Hyperammonemia, Micrognathia |
OMIM:220111 |
Leukocyte Adhesion Deficiency |
|
Acute myeloid leukemia, Perianal abscess, Leukocytosis, Peritonitis, Recurrent tonsillitis, Bone ... |
ORPHA:2968 |
Niemann-Pick Disease, Type C1 |
|
Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Sea-blue histiocytosis, Prolon... |
OMIM:257220 |
Mucoepithelial Dysplasia, Hereditary |
|
Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Melena, ... |
OMIM:158310 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi... |
ORPHA:247353 |
Congenital Alveolar Capillary Dysplasia |
|
Aganglionic megacolon, Intestinal malrotation, Asplenia, Tracheoesophageal fistula, Duodenal sten... |
ORPHA:210122 |
Anaplastic Thyroid Carcinoma |
|
Goiter, Nodular goiter, Weight loss, Lymphadenopathy |
ORPHA:142 |
Lathosterolosis |
|
Hepatomegaly, Intrahepatic cholestasis, Anisopoikilocytosis, Abnormal platelet morphology, Intrau... |
ORPHA:46059 |
Noonan Syndrome |
|
Abnormal bleeding, Abnormal platelet function |
ORPHA:648 |
Craniotubular Dysplasia, Ikegawa Type |
|
Metaphyseal dysplasia, Broad femoral neck, Broad ischia, Diaphyseal dysplasia, Sclerosis of skull... |
OMIM:619727 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyponatremia, Hepatomegaly, Elevated circulating creatine kinase concentration, Dyspnea, Hyperamm... |
OMIM:610505 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Slender build, Cachexia, Weight loss |
OMIM:603041 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Micromelia, Micrognathia, Abnormal finger morphology, Short palm, Large iliac wing, C... |
ORPHA:2636 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Respiratory failure, Hepatic steatosis |
OMIM:614922 |
Proteus-Like Syndrome |
|
Splenomegaly, Thymus hyperplasia, Polycystic ovaries, Abnormality of the parathyroid gland |
ORPHA:2969 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Diffuse alveolar hemorrhage, Abnormal lung morphology, Abnormality of the liver, Hyperbilirubinem... |
ORPHA:464321 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Second degree atrioventricular block, Syncope, Palpitations, Sinus bradycardia |
OMIM:616812 |
Parenteral Nutrition-Associated Cholestasis |
|
Villous atrophy, Abdominal pain, Conjugated hyperbilirubinemia, Abnormal circulating fatty-acid c... |
ORPHA:567983 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Cachexia |
ORPHA:3217 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Short stature, Cryptorchidism, Respiratory insufficiency, Anemia, Hypocalcemi... |
ORPHA:163979 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Skin rash, Pneumonia, Raynaud phenomenon, Punctate vasculitis skin l... |
ORPHA:247691 |
Familial Pancreatic Carcinoma |
|
Pancreatic adenocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy, Hepatosplenomegal... |
ORPHA:1333 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Prolonged prothrombin time |
OMIM:617049 |
Geleophysic Dysplasia 3 |
|
Hepatomegaly, Short stature, Pneumonia, Dyspnea, Respiratory failure |
OMIM:617809 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Multiple pulmonary cysts, Hypertriglyceridemia, Splenomegaly, Mic... |
OMIM:619418 |
Esophageal Atresia |
|
Barrett esophagus, Intestinal malrotation, Feeding difficulties in infancy, Pyloric stenosis, Gas... |
ORPHA:1199 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Abnormal circulating lipid concentration, Short stature, Cryptorchidism, Disproportionate short-l... |
OMIM:616541 |
Thrombocytopenia-Absent Radius Syndrome |
|
Short stature, Eosinophilia, Pancreatic cysts, Leukocytosis, Hepatosplenomegaly, Anemia, Decrease... |
OMIM:274000 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Cryptorchidism, Respiratory failure, Intrauterine growth retardation |
OMIM:620327 |
Deeah Syndrome |
|
Decreased hemoglobin concentration, Hepatomegaly, Neonatal respiratory distress, Short stature, A... |
OMIM:619004 |
Hypotrichosis Simplex Of The Scalp |
|
Increased circulating IgE level, Allergic rhinitis |
ORPHA:90368 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Retinal hemorrhage, Hypertension, Tachycardia, Bradycardia |
OMIM:614653 |
Short-Rib Thoracic Dysplasia 12 |
|
Hepatomegaly, Splenomegaly, Atelectasis, Respiratory insufficiency, Periportal fibrosis, Hypoplas... |
OMIM:269860 |
Kindler Epidermolysis Bullosa |
|
Recurrent skin infections, Camptodactyly of finger, Esophageal stricture, Flexion contracture, Ch... |
ORPHA:2908 |
Waardenburg Syndrome Type 3 |
|
Tracheomalacia, Atelectasis |
ORPHA:896 |
Roifman-Chitayat Syndrome |
|
Arthritis, Pneumonia |
OMIM:613328 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Pulmonary arteriovenou... |
OMIM:187300 |
Renal Nutcracker Syndrome |
|
Orthostatic hypotension, Tachycardia, Weight loss, Syncope, Anemia |
ORPHA:71273 |
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Hypoglycinemia, Megaloblastic anemia, Hyposerinemia, Feeding difficulties, Gastroesophageal reflu... |
ORPHA:79351 |
Leukocyte Adhesion Deficiency Type Ii |
|
Hepatomegaly, Neutrophilia, Small for gestational age, Microcytic anemia, Abnormal isohemagglutin... |
ORPHA:99843 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Short stature, Congenital hypoplastic anemia, Reticulocytopenia, Persistence o... |
OMIM:105650 |
Central Diabetes Insipidus |
|
Failure to thrive, Weight loss |
ORPHA:178029 |
Hereditary Central Diabetes Insipidus |
|
Weight loss |
ORPHA:30925 |
Meige Disease |
|
Lymph node hypoplasia, Absence of lymph node germinal center |
ORPHA:90186 |
Takayasu Arteritis |
|
Anemia, Weight loss |
ORPHA:3287 |
Aicardi-Goutieres Syndrome 9 |
|
Hemolytic anemia, Hepatomegaly, Acute pancreatitis, Failure to thrive, Portal hypertension, Hepat... |
OMIM:619487 |
Celiac Disease, Susceptibility To, 1 |
|
Macrocytic anemia, Weight loss, Iron deficiency anemia, Thrombocytosis, Failure to thrive, Decrea... |
OMIM:212750 |
Sporadic Creutzfeldt-Jakob Disease |
|
Respiratory failure requiring assisted ventilation, Recurrent aspiration pneumonia |
ORPHA:204 |
Scleromyxedema |
|
Elevated circulating creatine kinase concentration, Abnormal lung morphology, Paraproteinemia, Ab... |
ORPHA:167635 |
Congenital Analbuminemia |
|
Hyperlipidemia, Increased alpha-globulin, Increased circulating antibody level, Hypoalbuminemia, ... |
ORPHA:86816 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Abdominal pain, Abdominal distention, Diarrhea, Iron deficiency anemia, Keratoconjunctivitis sicc... |
ORPHA:309031 |
Myotonic Dystrophy 2 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Elevated circulating follicle s... |
OMIM:602668 |
Pseudohypoparathyroidism Type 1A |
|
Abnormal platelet function |
ORPHA:79443 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Respiratory failure, Elevated circulating creatine kinase concentration |
OMIM:616538 |
Trisomy 18 |
|
Cryptorchidism, Cachexia |
ORPHA:3380 |
Spondyloenchondrodysplasia |
|
Enchondroma, Skin rash, Pneumonia, Raynaud phenomenon, Vasculitis, Hepatitis, Arthritis, Hyperten... |
ORPHA:1855 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Pancreatic fibrosis, Short stature, Splenomegaly, Hyperlipidemia, Delayed puberty, ... |
OMIM:232220 |
Isotretinoin-Like Syndrome |
|
Postnatal growth retardation, Hypocalcemia, Abnormality of the pulmonary veins, Intrauterine grow... |
ORPHA:2306 |
Juvenile Huntington Disease |
|
Weight loss |
ORPHA:248111 |
Intussusception |
|
Intussusception |
OMIM:147710 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H... |
OMIM:301068 |
Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... |
OMIM:207750 |
16Q24.3 Microdeletion Syndrome |
|
Cryptorchidism, Increased mean corpuscular volume, Thrombocytopenia |
ORPHA:261250 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Recurrent intrapulmonary hemorrhage, Eosinophilia, Abnormal pleura morphology, Weight loss |
ORPHA:183 |
Schwartz-Jampel Syndrome |
|
Testicular torsion, Decreased testicular size, Cachexia, Decreased body weight |
ORPHA:800 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Feeding difficulties, Hepatosplenomegaly, Decreased serum zinc, Esophagitis, Hepatic failure |
ORPHA:541423 |
Malignant Peritoneal Mesothelioma |
|
Peritonitis, Ascites, Weight loss |
ORPHA:168811 |
Fraser Syndrome 2 |
|
Respiratory failure, Hypoplasia of the thymus |
OMIM:617666 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Cardiomegaly, Splenomegaly, Weight loss, C... |
ORPHA:465508 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Cryptorchidism, Rectal prolapse, Narrow palate, Protein-losing enteropathy, Hypoalbuminemia, Camp... |
OMIM:235510 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Cachexia |
ORPHA:109 |
Cat Eye Syndrome |
|
Anal stenosis, Intestinal malrotation, Rectal fistula, Rectal atresia, Cleft palate, Volvulus, Me... |
OMIM:115470 |
Atelis Syndrome 2 |
|
Dyspnea, Thrombocytopenia, Anemia |
OMIM:620185 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Bradypnea, Respiratory failure |
OMIM:617186 |
Liver Failure, Infantile, Transient |
|
Prolonged prothrombin time, Decreased circulating IgG level |
OMIM:613070 |
Isolated Biliary Atresia |
|
Hepatomegaly, Small for gestational age, Atretic gallbladder, Splenomegaly, Jaundice, Cholestasis... |
ORPHA:30391 |
Osteopetrosis, Autosomal Recessive 3 |
|
Extramedullary hematopoiesis, Short stature, Anemia, Hepatosplenomegaly |
OMIM:259730 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Failure to thrive, Bradycardia |
ORPHA:90674 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Respiratory failure, Short stature |
ORPHA:280210 |
Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Macrocytic anemia, Eosinophilia, Hepatitis, Weight loss, Failure to thrive |
ORPHA:199299 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Elevated circulating C-reactive protein concentration, Elevated circulating cr... |
ORPHA:91500 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
High nonceruloplasmin-bound serum copper, Thrombocytopenia |
ORPHA:457351 |
22Q11.2 Deletion Syndrome |
|
Hypoparathyroidism, Short stature, Abnormality of the tonsils, Abnormality of thrombocytes, Impai... |
ORPHA:567 |
Encephalitis Lethargica |
|
Bradycardia |
ORPHA:83600 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Respiratory failure, Apnea |
OMIM:617301 |
Zollinger-Ellison Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Duodenal ulcer, Peptic ulcer, Hypercalcemia,... |
ORPHA:913 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia |
ORPHA:314655 |
Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Atelectasis |
OMIM:300219 |
Metachromatic Leukodystrophy |
|
Bowel incontinence, Abnormal stomach morphology, Neoplasm of the gallbladder, Feeding difficultie... |
ORPHA:512 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Weight loss, Goiter |
OMIM:188580 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Cachexia |
ORPHA:220295 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Aspiration pneumonia, Cough |
ORPHA:216866 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Hyperlipidemia, V... |
ORPHA:565612 |
Neuroblastoma, Susceptibility To, 1 |
|
Failure to thrive, Abdominal mass, Anemia, Weight loss |
OMIM:256700 |
Multiple Endocrine Neoplasia, Type I |
|
Hypercalcemia, Peptic ulcer, Diarrhea, Zollinger-Ellison syndrome, Esophagitis |
OMIM:131100 |
Dextrocardia |
|
Abnormality of the spleen, Meckel diverticulum, Intestinal malrotation |
ORPHA:1666 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Prolonged prothrombin time |
OMIM:614300 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Intrauterine growth retardation, Thrombocytopenia |
ORPHA:572798 |
Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Weight loss |
OMIM:143880 |
Lymphangioleiomyomatosis |
|
Recurrent respiratory infections, Atelectasis, Dyspnea, Abnormality of the lymphatic system, Pneu... |
ORPHA:538 |
Focal Myositis |
|
Weight loss |
ORPHA:48918 |
Hirschsprung Disease |
|
Failure to thrive in infancy, Weight loss |
ORPHA:388 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Recurrent respiratory infections, Apnea, Splenomegaly, Pulmonary artery stenosis, L... |
ORPHA:667 |
Arterial Tortuosity Syndrome |
|
Respiratory distress, Dyspnea, Pulmonary artery stenosis, Cardiorespiratory arrest, Respiratory f... |
ORPHA:3342 |
Seckel Syndrome |
|
Cachexia |
ORPHA:808 |
Cockayne Syndrome |
|
Cryptorchidism, Splenomegaly, Cachexia, Hepatomegaly |
ORPHA:191 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Short stature, Decreased response to growth hormone stimulation test, Cardiomegaly,... |
OMIM:602782 |
Lymphatic Filariasis |
|
Lymphadenitis, Abnormal lung morphology, Abnormality of the lymphatic system, Hypereosinophilia, ... |
ORPHA:2035 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Hepatomegaly, Primary testicular failure, Abnormal lymph node morphology, Lymphadenopathy, Hepato... |
ORPHA:85450 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Postnatal growth retardation, Intrauterine growth retardation, Respiratory failure |
ORPHA:254528 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory distress, Respiratory failure, Chylothorax |
OMIM:620278 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Hepatomegaly, Abnormal blood inorganic cation concentration, Portal hypertension, Splenomegaly, M... |
ORPHA:309854 |
Peritoneal Cystic Mesothelioma |
|
Peritonitis, Weight loss |
ORPHA:168816 |
Pemphigus Vulgaris |
|
Recurrent cutaneous abscess formation, Weight loss |
ORPHA:704 |
Glycogen Storage Disease Ic |
|
Stomatitis, Cyclic neutropenia, Chronic pancreatitis, Hyperlipidemia, Gout, Inflammation of the l... |
OMIM:232240 |
Takenouchi-Kosaki Syndrome |
|
Thrombocytopenia, Increased mean platelet volume, Cryptorchidism |
OMIM:616737 |
Localized Scleroderma |
|
Skeletal muscle atrophy, Fasciitis, Flexion contracture, Uveitis, Myopathy, Arthritis, Gastroesop... |
ORPHA:90289 |
Carney Triad |
|
Gastrointestinal hemorrhage, Tachycardia, Hypertension, Arrhythmia, Anemia |
ORPHA:139411 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Weight loss, Goiter |
OMIM:613239 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,... |
OMIM:208540 |
Bickerstaff Brainstem Encephalitis |
|
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf... |
ORPHA:79138 |
Hereditary Chronic Pancreatitis |
|
Leukocytosis, Recurrent pancreatitis, Pancreatic calcification, Jaundice |
ORPHA:676 |
Tyrosinemia, Type I |
|
Hypertyrosinemia, Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Splenomegal... |
OMIM:276700 |
Sialuria |
|
Prolonged prothrombin time |
ORPHA:3166 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Neonatal alloimmune thrombocytopenia |
ORPHA:853 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Rhizomelia, Allergic rhinitis, Asthma, Decreased circulating total IgM, Annular pancreas |
OMIM:618162 |
Lethal Acantholytic Erosive Disorder |
|
Intrauterine growth retardation, Respiratory failure, Cardiomegaly |
ORPHA:158687 |
Poliomyelitis |
|
Respiratory failure requiring assisted ventilation, Respiratory failure, Absent tonsils |
ORPHA:2912 |
Osteootohepatoenteric Syndrome |
|
Microvesicular hepatic steatosis, Cholestasis, Weight loss, Portal fibrosis, Hepatic fibrosis, Pr... |
OMIM:619377 |
Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Pelvic mass, Jaundice, Ovarian neoplasm, Weight loss, Ascites, Pancreat... |
ORPHA:370348 |
Reactive Arthritis |
|
Pericarditis, Osteomyelitis, Abdominal pain, Pustule, Diarrhea, Enthesitis, Arthritis, Inflammati... |
ORPHA:29207 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Tricuspid regurgitation, Dilated cardiomyopathy, Mitral regurgitation, Aspiration pneumonia, Left... |
OMIM:619167 |
Congenital Fiber-Type Disproportion Myopathy |
|
Recurrent respiratory infections, Hypercapnia, Respiratory insufficiency due to muscle weakness, ... |
ORPHA:2020 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Hepatomegaly, Short stature, Postnatal growth retardation, Cryptorchidism, Pulmonary artery steno... |
ORPHA:96334 |
Somatostatinoma |
|
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Intrah... |
ORPHA:97283 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Cholelithiasis, Recurrent tonsillitis, Failure to thrive in infancy, Weight loss |
ORPHA:171876 |
Perry Syndrome |
|
Weight loss |
ORPHA:178509 |
Isolated Succinate-Coq Reductase Deficiency |
|
Left ventricular hypertrophy, Weight loss |
ORPHA:3208 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Respiratory tract infection, Minimal change glomerulonephritis, Peritonitis, Pulmonary embolism |
ORPHA:567548 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Bradycardia |
ORPHA:90673 |
Bohring-Opitz Syndrome |
|
Severe failure to thrive, Bradycardia |
ORPHA:97297 |
Proteus Syndrome |
|
Thymus hyperplasia, Testicular neoplasm, Cachexia, Neoplasm of the thymus, Splenomegaly, Enlarged... |
ORPHA:744 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Short humerus, Short femur, Tapered finger |
OMIM:618367 |
Velocardiofacial Syndrome |
|
Talipes, Impaired T cell function, Hypocalcemia, Unilateral primary pulmonary dysgenesis, Pulmona... |
OMIM:192430 |
Leptospirosis |
|
Respiratory distress, Hepatomegaly, Jaundice, Hepatitis, Lymphadenopathy, Hyperproteinemia, Cough... |
ORPHA:509 |
Pyomyositis |
|
Recurrent cutaneous abscess formation, Leukocytosis, Weight loss, Testicular teratoma |
ORPHA:764 |
Alpha-Mannosidosis, Adult Form |
|
Aortic regurgitation, Pneumonia |
ORPHA:309288 |
Aspartylglucosaminuria |
|
Pes planus, Recurrent respiratory infections, Abnormal morphology of ulna, Joint stiffness, Splen... |
ORPHA:93 |
Reynolds Syndrome |
|
Calcinosis, Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis, Hyperbilirubine... |
OMIM:613471 |
Hyperlipoproteinemia, Type I |
|
Splenomegaly, Jaundice, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulati... |
OMIM:238600 |
Malignant Atrophic Papulosis |
|
Pleural effusion, Respiratory failure |
ORPHA:679 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Cachexia |
ORPHA:1969 |
Ménétrier Disease |
|
Hypochromic microcytic anemia, Weight loss |
ORPHA:2494 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Elevated circulating C-reactive protein concentration, Orchitis, Splenomegaly, Leukocytosis, Peri... |
ORPHA:32960 |
Huntington Disease |
|
Decreased body mass index, Weight loss |
ORPHA:399 |
Gallbladder Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit... |
ORPHA:100086 |
Alport Syndrome 1, X-Linked |
|
Hypoparathyroidism, Thrombocytopenia |
OMIM:301050 |
Orofaciodigital Syndrome Ix |
|
Hamartoma, Recurrent aspiration pneumonia |
OMIM:258865 |
Goodpasture Syndrome |
|
Nodular pattern on pulmonary HRCT, Crackles, Cough, Increased DLCO, Tachypnea, Restrictive ventil... |
OMIM:233450 |
Behçet Disease |
|
Myositis, Myocardial infarction, Pulmonary embolism, Infectious encephalitis, Acne, Retrobulbar o... |
ORPHA:117 |
Thrombocytopenia-Absent Radius Syndrome |
|
Thrombocytopenia |
ORPHA:3320 |
Classical Ehlers-Danlos Syndrome |
|
Prolonged bleeding time, Ecchymosis, Bruising susceptibility |
ORPHA:287 |
Cushing Disease |
|
Leukocytosis, Increased body weight, Truncal obesity, Abdominal obesity, Decreased eosinophil cou... |
ORPHA:96253 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Increased mean platelet volume, Postnatal growth retardation, Abnormality of the lymphatic system... |
ORPHA:487796 |
Vipoma |
|
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Intrah... |
ORPHA:97282 |
Malt Lymphoma |
|
Mediastinal lymphadenopathy, Weight loss, Anemia, Lymphadenopathy |
ORPHA:52417 |
Subcorneal Pustular Dermatosis |
|
Increased circulating antibody level |
ORPHA:48377 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Pancreatitis, Aspiration pneumonia |
ORPHA:431361 |
Gm1 Gangliosidosis |
|
Weight loss, Splenomegaly, Failure to thrive, Hepatosplenomegaly |
ORPHA:354 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Prolonged prothrombin time |
ORPHA:367 |
Ppoma |
|
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Intrah... |
ORPHA:97278 |
Jacobsen Syndrome |
|
Recurrent respiratory infections, Cryptorchidism, Intrauterine growth retardation, Annular pancre... |
OMIM:147791 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Recurrent respiratory infections, Hyperparathyroidism, Short stature, Hypoammonemia... |
ORPHA:534 |
Jacobsen Syndrome |
|
Recurrent respiratory infections, Short stature, Cryptorchidism, Growth delay, Bone marrow hypoce... |
ORPHA:2308 |
Monosomy 13Q34 |
|
Hematochezia, Prolonged prothrombin time, Epistaxis |
ORPHA:96168 |
Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Severe short stature, Cryptorchidism, Dyspnea, Growth delay, Respiratory fa... |
ORPHA:2554 |
Huntington Disease-Like 1 |
|
Weight loss |
ORPHA:157941 |
Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Hypoplasia of the small intestine, Polysplenia |
OMIM:200995 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Sinus bradycardia |
OMIM:126320 |
Khan-Khan-Katsanis Syndrome |
|
Short stature, Neutropenia, Intrauterine growth retardation, Lymphopenia, Anemia |
OMIM:618460 |
Cornelia De Lange Syndrome 1 |
|
Short stature, Pneumonia, Cryptorchidism, Hypoplastic nipples, Intrauterine growth retardation, D... |
OMIM:122470 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Elevated circulating creatine kinase concentration, Feeding difficulties, Limb-girdle muscular dy... |
OMIM:615356 |
Glucagonoma |
|
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Acanth... |
ORPHA:97280 |
Tarp Syndrome |
|
Extramedullary hematopoiesis, Cryptorchidism, Cleft palate, Glossoptosis, Abnormal duodenum morph... |
ORPHA:2886 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss |
ORPHA:312 |
Grfoma |
|
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Neopla... |
ORPHA:97261 |
Mucopolysaccharidosis, Type Vi |
|
Tricuspid regurgitation, Pneumonia, Recurrent upper respiratory tract infections, Restrictive ven... |
OMIM:253200 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Hepatomegaly, Acute pancreatitis, Leukocytosis, Jaundice, Lipid accumulation in hepatocytes, Weig... |
ORPHA:20 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Mitral regurgitation, Tricuspid regurgitation, Sinus bradycardia |
OMIM:261990 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chronic noninfectious lymphadenopa... |
ORPHA:100085 |
Cardiac-Urogenital Syndrome |
|
Prolonged bleeding time |
OMIM:618280 |
Gaucher Disease, Type Iiic |
|
Splenomegaly, Pancytopenia, Cardiomegaly, Hepatomegaly |
OMIM:231005 |
Tuberous Sclerosis Complex |
|
Respiratory distress, Respiratory tract infection, Pituitary adenoma, Parathyroid hyperplasia, Re... |
ORPHA:805 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Absent gallbladder, Unilateral lung agenesis, Proportionate short stature, Secretory IgA deficien... |
ORPHA:500150 |
Exercise-Induced Malignant Hyperthermia |
|
Elevated circulating creatine kinase concentration, Crackles, Tachypnea, Hyperkalemia, Hyperphosp... |
ORPHA:466650 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Hepatomegaly, Microcytic anemia, Splenomegaly, Anemia, Increased hepatic echogenicity, Bile duct ... |
OMIM:619525 |
Infantile Neuroaxonal Dystrophy |
|
Apneic episodes in infancy, Aspiration pneumonia |
ORPHA:35069 |
Beta-Ketothiolase Deficiency |
|
Thrombocytosis, Leukocytosis, Weight loss, Hepatomegaly |
ORPHA:134 |
Fanconi Anemia |
|
Pyridoxine-responsive sideroblastic anemia, Short stature, Thrombocytopenia, Cryptorchidism, Grow... |
ORPHA:84 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Intraventricular hemorrhage, Aspiration pneumonia |
OMIM:616430 |
Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Increased circulating antibody level |
OMIM:114065 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Thymus hyperplasia |
OMIM:619036 |
Viss Syndrome |
|
Short stature, Dyspnea, Asthma, Pneumothorax, Hypereosinophilia, Increased circulating IgE level,... |
OMIM:619472 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Repeated pneumothoraces, Postnatal growth retardation, Atelectasis, Respira... |
ORPHA:536467 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia, Abnormal lung lobation, Decreased circul... |
ORPHA:369837 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Decreased muscle mass, Poor appetite, Feeding difficulties in infancy, High, narrow palate, Crypt... |
ORPHA:96182 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Endometrial carcinoma, Pneumonia, Breast carcinoma |
ORPHA:90790 |
Plague |
|
Chapped lip, Skin rash, Anorexia, Abdominal pain, Hematemesis, Splenomegaly, Lymphadenitis, Eryth... |
ORPHA:707 |
Neuroendocrine Tumor Of The Colon |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss |
ORPHA:100080 |
Mohr-Tranebjaerg Syndrome |
|
Aspiration pneumonia |
ORPHA:52368 |
Aicardi-Goutières Syndrome |
|
Short stature, Neonatal alloimmune thrombocytopenia, Cardiomegaly, Chronic lymphatic leukemia, He... |
ORPHA:51 |
Osteosarcoma |
|
Weight loss |
ORPHA:668 |
Acute Liver Failure |
|
Jaundice, Hepatitis, Hepatic necrosis, Hepatocellular necrosis, Hyperammonemia, Abnormal respirat... |
ORPHA:90062 |
Pancreatoblastoma |
|
Jaundice, Weight loss, Pancreatic calcification, Abnormal lymph node morphology |
ORPHA:677 |
Congenital Tracheal Stenosis |
|
Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal stenosis, Meckel diverticulum, A... |
ORPHA:141127 |
Cap Polyposis |
|
Weight loss |
ORPHA:160148 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Overweight, Bradycardia |
ORPHA:226307 |
Liposarcoma |
|
Weight loss |
ORPHA:69078 |
Ectodermal Dysplasia And Immunodeficiency 2 |
|
Recurrent respiratory infections, Hepatomegaly, Splenomegaly, Defective production of NFKB1-depen... |
OMIM:612132 |
Bullous Pemphigoid |
|
Weight loss |
ORPHA:703 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Celiac disease, High, narrow palate, Thyroiditis, Gastrointestinal inflammation, Gastrointestinal... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Celiac disease, High, narrow palate, Thyroiditis, Gastrointestinal inflammation, Gastrointestinal... |
ORPHA:99228 |
Monosomy X |
|
Celiac disease, High, narrow palate, Thyroiditis, Gastrointestinal inflammation, Gastrointestinal... |
ORPHA:99226 |
Turner Syndrome |
|
Celiac disease, High, narrow palate, Thyroiditis, Gastrointestinal inflammation, Gastrointestinal... |
ORPHA:881 |
Cystic Fibrosis |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent bronchop... |
OMIM:219700 |
Non-Functioning Paraganglioma |
|
Weight loss |
ORPHA:94080 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Jaundice, Weight loss, Chronic calcifying pancreatitis, Abnormal pancr... |
ORPHA:103918 |
Marfan Syndrome |
|
Slender build, Cachexia |
ORPHA:558 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Goiter, Weight loss, Small for gestational age, Thyroid hyperplasia |
ORPHA:424 |
X-Linked Dystonia-Parkinsonism |
|
Aspiration pneumonia |
ORPHA:53351 |
Cholera |
|
Tachycardia, Tachypnea, Hypovolemic shock, Hypotension, Aspiration pneumonia, Hyperventilation |
ORPHA:173 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Pancreatic adenocarcinoma, Pancreatoblastoma, Neoplasm of the thymus, Small cell lung carcinoma, ... |
ORPHA:99889 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hepatomegaly, Microvesicular hepatic steatosis, Respiratory failure, Cirrhosis, Elevated hepatic ... |
OMIM:300868 |
Myhre Syndrome |
|
Short stature, Cryptorchidism, Respiratory insufficiency, Birth length less than 3rd percentile, ... |
OMIM:139210 |
Steinert Myotonic Dystrophy |
|
Respiratory failure requiring assisted ventilation, Hypercholesterolemia, Decreased response to g... |
ORPHA:273 |
Roberts Syndrome |
|
Postnatal growth retardation, Cryptorchidism, Severe intrauterine growth retardation, Thrombocyto... |
ORPHA:3103 |
Combined Oxidative Phosphorylation Deficiency 39 |
|
Sinus bradycardia |
OMIM:618397 |
Simpson-Golabi-Behmel Syndrome |
|
Hepatomegaly, Supernumerary nipple, Splenomegaly, Cryptorchidism, Increased circulating IgE level... |
ORPHA:373 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Intestinal malrotation, Diastasis recti, Asplenia, Esophageal atresia, Tracheoesophageal fistula,... |
OMIM:265380 |
Neuroendocrine Tumor Of The Rectum |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss |
ORPHA:100082 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Weight loss, Lymphadenopathy, Anemia, Hepatosplenomegaly |
ORPHA:85408 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Minimal change glomerulonephritis, Respiratory tract infection, Dyspnea, Pulmonary embolism, Hype... |
ORPHA:567546 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Intraventricular hemorrhage, Prolonged prothrombin time |
OMIM:619055 |
Fryns Syndrome |
|
Aganglionic megacolon, Intestinal malrotation, Cryptorchidism, Esophageal atresia, Cleft palate, ... |
OMIM:229850 |
Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Hyponatremia, Respiratory failure |
OMIM:618252 |
Polyarteritis Nodosa |
|
Weight loss |
ORPHA:767 |
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Prolonged prothrombin time |
OMIM:311250 |
Neuroendocrine Tumor Of Stomach |
|
Iron deficiency anemia, Weight loss, Chronic noninfectious lymphadenopathy, Hepatomegaly |
ORPHA:100075 |
Costello Syndrome |
|
Short stature, Pneumothorax, Respiratory insufficiency, Respiratory failure, Tracheomalacia, Lymp... |
OMIM:218040 |
Acquired Central Diabetes Insipidus |
|
Weight loss |
ORPHA:95626 |
Stickler Syndrome |
|
Slender build, Cachexia |
ORPHA:828 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Prolonged prothrombin time |
ORPHA:71212 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Hypoventilation, Apnea, Sinus bradycardia, Hypopnea, Restrictive ventilatory defect, Aspiration p... |
OMIM:619482 |
Incontinentia Pigmenti |
|
Leukocytosis, Eosinophilia |
OMIM:308300 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Abnormality of T cell physiology, Hypocalcemia, Hypocalcemic seizures |
ORPHA:2237 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Recurrent skin infections, Intestinal malrotation, Diastasis recti, Hiatus hernia, Cryptorchidism... |
OMIM:601776 |
Solitary Fibrous Tumor |
|
Abnormal peritoneum morphology, Neoplasm of the liver, Pelvic mass, Weight loss |
ORPHA:2126 |
Femoral-Facial Syndrome |
|
Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short fifth metat... |
OMIM:134780 |
Parkinson Disease 4, Autosomal Dominant |
|
Weight loss |
OMIM:605543 |
Rat-Bite Fever |
|
Abdominal aseptic abscess, Lymphadenitis, Weight loss, Anemia, Pancreatitis, Parotitis |
ORPHA:31205 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Abnormality of tumor necrosis factor secretion |
ORPHA:85436 |
Polymyositis |
|
Hepatomegaly, Weight loss |
ORPHA:732 |
Ulbright-Hodes Syndrome |
|
Respiratory distress, Postnatal growth retardation, Cryptorchidism, Pneumothorax, Birth length le... |
ORPHA:3404 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Increased circulating antibody level, Elevated circulating creatine kinase concentration, Elevate... |
OMIM:606002 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Severe short stature, Dyspnea, Growth delay, Respiratory failure, Abnormal ... |
ORPHA:2556 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Thrombocytosis, Prolonged prothrombin time, Decreased circulating IgG level, Decreased circulatin... |
OMIM:212065 |
Familial Gestational Hyperthyroidism |
|
Goiter, Weight loss, Thyroid hyperplasia |
ORPHA:99819 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Short stature, Repeated pneumothoraces, Nod... |
OMIM:130050 |
Yao Syndrome |
|
Weight loss |
OMIM:617321 |
Chops Syndrome |
|
Tracheomalacia, Chronic lung disease, Anomalous pulmonary venous return, Aspiration pneumonia |
OMIM:616368 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Pulmonary insufficiency, Bradycardia |
OMIM:614437 |
Marshall-Smith Syndrome |
|
Apnea, Recurrent upper respiratory tract infections, Premature ventricular contraction, Stridor, ... |
OMIM:602535 |
Glucose-Galactose Malabsorption |
|
Failure to thrive, Weight loss |
ORPHA:35710 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Recurrent pneumonia, Recurrent aspiration pneumonia |
OMIM:300472 |
Lissencephaly Due To Lis1 Mutation |
|
Aspiration pneumonia |
ORPHA:95232 |
Mosaic Trisomy 16 |
|
Abnormality of the gastrointestinal tract, Nasogastric tube feeding in infancy, Anteriorly placed... |
ORPHA:1708 |
Multiple Endocrine Neoplasia Type 4 |
|
Hypercalcemia, Peptic ulcer, Testicular neoplasm, Diarrhea, Episodic abdominal pain, Zollinger-El... |
ORPHA:276152 |
Lynch Syndrome |
|
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Pituitary adenoma, Ovarian neoplasm, Weight ... |
ORPHA:144 |
Amoebiasis Due To Free-Living Amoebae |
|
Sinusitis, Pneumonia, Respiratory tract infection, Pustule, Arrhythmia, Infectious encephalitis |
ORPHA:68 |
Perry Syndrome |
|
Weight loss |
OMIM:168605 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Bradycardia |
OMIM:218700 |
Congenital Disorder Of Glycosylation, Type It |
|
Prolonged prothrombin time |
OMIM:614921 |
Familial Colorectal Cancer Type X |
|
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Pituitary adenoma, Ovarian neoplasm, Weight ... |
ORPHA:440437 |
Oromandibular Dystonia |
|
Weight loss |
ORPHA:93958 |
Rheumatoid Arthritis |
|
Weight loss |
OMIM:180300 |
Granulomatosis With Polyangiitis |
|
Granulomatosis, Weight loss |
OMIM:608710 |
8P23.1 Microdeletion Syndrome |
|
Cryptorchidism, Obesity, Weight loss |
ORPHA:251071 |
Familial Glucocorticoid Deficiency |
|
Cryptorchidism, Testicular adrenal rest tumor, Weight loss, Leydig cell neoplasia, Failure to thrive |
ORPHA:361 |
Giant Cell Arteritis |
|
Mediastinal lymphadenopathy, Weight loss |
ORPHA:397 |
Noonan Syndrome 1 |
|
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Short stature, Postnatal grow... |
OMIM:163950 |
Fatal Familial Insomnia |
|
Weight loss |
OMIM:600072 |
Adrenocortical Carcinoma |
|
Adrenocorticotropic hormone deficiency, Increased body weight, Weight loss |
ORPHA:1501 |
Ileal Neuroendocrine Tumor |
|
Iron deficiency anemia, Weight loss, Extrahepatic cholestasis, Lymphadenopathy |
ORPHA:100078 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Extraadrenal pheochromocytoma, Weight loss, Adrenal pheochromocytoma |
ORPHA:276621 |
Incontinentia Pigmenti |
|
Eosinophilia |
ORPHA:464 |
Mucolipidosis Type Ii |
|
Left ventricular hypertrophy, Splenomegaly, Weight loss, Hepatosplenomegaly |
ORPHA:576 |
Norrie Disease |
|
Cryptorchidism, Failure to thrive, Cachexia |
ORPHA:649 |
Mucopolysaccharidosis Type 3 |
|
Recurrent sinopulmonary infections, Respiratory tract infection, Upper airway obstruction, Atriov... |
ORPHA:581 |
Short Syndrome |
|
Weight loss |
ORPHA:3163 |
Addison Disease |
|
Normocytic anemia, Hypoparathyroidism, Primary testicular failure, Thiamine-responsive megaloblas... |
ORPHA:85138 |
Progeroid Short Stature With Pigmented Nevi |
|
Impaired T cell function |
OMIM:176690 |
Alpha-Mannosidosis, Infantile Form |
|
Aortic regurgitation, Mitral regurgitation, Pneumonia, Otitis media |
ORPHA:309282 |
Gm1 Gangliosidosis Type 1 |
|
Cardiomyopathy, Aspiration pneumonia |
ORPHA:79255 |
Trichinellosis |
|
Increased circulating IgE level |
ORPHA:863 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Recurrent respiratory infections, Pneumonia, Cardiac conduction abnormality, Pilomatrixoma, Asthm... |
ORPHA:353281 |
Hermansky-Pudlak Syndrome |
|
Weight loss, Neutropenia |
ORPHA:79430 |
Fraser Syndrome 1 |
|
Cryptorchidism, Abnormal small intestine morphology, Cleft palate, Abnormality of the anus |
OMIM:219000 |
Relapsing Polychondritis |
|
Dyspnea, Atelectasis, Abnormal pattern of respiration, Cough |
ORPHA:728 |
Acute Adrenal Insufficiency |
|
Normocytic anemia, Failure to thrive, Weight loss |
ORPHA:95409 |
Erdheim-Chester Disease |
|
Retroperitoneal fibrosis, Anemia, Weight loss |
ORPHA:35687 |
Multiple Osteochondromas |
|
Osteochondroma, Chondrosarcoma, Pneumothorax, Arthritis, Rib exostoses, Scapular exostoses, Hemot... |
ORPHA:321 |
Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Hydrocele testis, Weight loss |
ORPHA:49041 |
Otopalatodigital Syndrome, Type Ii |
|
Short stature, Postnatal growth retardation, Cryptorchidism, Respiratory insufficiency, Respirato... |
OMIM:304120 |
Multiple Endocrine Neoplasia Type 1 |
|
Neoplasm of the pancreas, Pituitary null cell adenoma, Elevated circulating growth hormone concen... |
ORPHA:652 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Pyloric stenosis, Recurrent pneumonia, Pyelonephritis, Small bowel diverticula |
ORPHA:90349 |
Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Testicular neoplasm, Primary hyperparathyroidism, Abnormal parathyroid... |
ORPHA:143 |
Acrodermatitis Enteropathica |
|
Failure to thrive, Weight loss |
ORPHA:37 |
Degcags Syndrome |
|
Tachycardia, Pneumonia, Asthma, Rhinitis, Pulmonic stenosis, Tracheomalacia, Pulmonary arterial h... |
OMIM:619488 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Extraadrenal pheochromocytoma, Weight loss, Adrenal pheochromocytoma |
ORPHA:29072 |
Tay-Sachs Disease |
|
Aspiration pneumonia |
ORPHA:845 |
Coffin-Siris Syndrome |
|
Hepatoblastoma, Recurrent upper respiratory tract infections, Papillary thyroid carcinoma, Aspira... |
ORPHA:1465 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Congestive heart failure, Asthma, Aspiration pneumonia, Tracheomalacia, Pulmonary arterial hypert... |
ORPHA:444077 |
Gerstmann-Straussler Disease |
|
Weight loss |
OMIM:137440 |
Tsh-Secreting Pituitary Adenoma |
|
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Increased circulatin... |
ORPHA:91347 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Failure to thrive, Pancreatic hypoplasia, Reduced pancreatic beta cells, Weight loss |
ORPHA:99885 |
Cystinosis, Nephropathic |
|
Hepatomegaly, Failure to thrive in infancy, Splenomegaly, Weight loss, Exocrine pancreatic insuff... |
OMIM:219800 |
Carney-Stratakis Syndrome |
|
Weight loss |
ORPHA:97286 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, Aspiration pneumonia |
ORPHA:99027 |
Cysticercosis |
|
Increased circulating antibody level |
ORPHA:1560 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Recurrent respiratory infections, Pneumonia, Cardiac conduction abnormality, Pilomatrixoma, Asthm... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Recurrent respiratory infections, Pneumonia, Cardiac conduction abnormality, Pilomatrixoma, Asthm... |
ORPHA:353277 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Weight loss |
ORPHA:747 |
Granulomatosis With Polyangiitis |
|
Granulomatosis, Pancreatitis, Weight loss |
ORPHA:900 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Weight loss |
OMIM:607459 |
Genitopatellar Syndrome |
|
Hip contracture, Anal stenosis, Cryptorchidism, Malrotation of small bowel, Knee flexion contract... |
OMIM:606170 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Prolonged prothrombin time |
ORPHA:404454 |
Hereditary Late-Onset Parkinson Disease |
|
Weight loss |
ORPHA:411602 |
Juvenile Dermatomyositis |
|
Weight loss |
ORPHA:93672 |
Semilobar Holoprosencephaly |
|
Central apnea, Abnormal heart rate variability, Aspiration pneumonia, Abnormal pattern of respira... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Central apnea, Abnormal heart rate variability, Aspiration pneumonia, Abnormal pattern of respira... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Central apnea, Abnormal heart rate variability, Aspiration pneumonia, Abnormal pattern of respira... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Central apnea, Abnormal heart rate variability, Aspiration pneumonia, Abnormal pattern of respira... |
ORPHA:93924 |
African Trypanosomiasis |
|
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Hepatosplenomegaly, Abnormal prolactin lev... |
ORPHA:3385 |
Chand Syndrome |
|
Atelectasis |
ORPHA:1401 |
Choreoacanthocytosis |
|
Hepatomegaly, Acanthocytosis, Abnormal erythrocyte enzyme level, Splenomegaly, Weight loss |
ORPHA:2388 |
Thyrotoxic Periodic Paralysis |
|
Obesity, Weight loss |
ORPHA:79102 |
Oculopharyngodistal Myopathy 1 |
|
Weight loss |
OMIM:164310 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Hypoventilation, Apnea, Breathing dysregulation, Pulmonic stenosis, Aspiration pneumonia |
ORPHA:438213 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Fasciitis, Osteomyelitis, Syncope, Septic arthritis, Bruising susceptibility, Recurrent aspiratio... |
ORPHA:642 |
Doors Syndrome |
|
Respiratory distress, Capillary hemangioma, Aspiration pneumonia |
ORPHA:79500 |
Chronic Graft Versus Host Disease |
|
Pancytopenia, Ascites, Weight loss |
ORPHA:99921 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Decreased testicular size, Failure to thrive, Testicular adrenal rest tumor, Weight loss |
ORPHA:90794 |
Pmm2-Cdg |
|
Elevated circulating growth hormone concentration, Abnormal liver parenchyma morphology, Hepatic ... |
ORPHA:79318 |
Hutchinson-Gilford Progeria Syndrome |
|
Severe failure to thrive, Weight loss |
ORPHA:740 |
Primary Fanconi Renotubular Syndrome |
|
Weight loss |
ORPHA:3337 |
Yunis-Varon Syndrome |
|
Pulmonary arterial hypertension, Heart murmur, Aspiration pneumonia, Cardiomyopathy |
OMIM:216340 |