| Immunodeficiency 64 With Lymphoproliferation |
|
Splenomegaly, Decreased lymphocyte proliferation in response to mitogen, Defective T cell prolife... |
OMIM:618534 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Aplastic anemia, Dysgammaglobulinemia, Lymphocytosis, Splenomegaly, Neutropenia, Pancytopenia, Fu... |
OMIM:308240 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Recurrent otitis media, Recurrent lower re... |
OMIM:619220 |
| Autoimmune Lymphoproliferative Syndrome |
|
Splenomegaly, Decreased lymphocyte apoptosis, Anti-smooth muscle antibody positivity, Increased c... |
OMIM:601859 |
| Immunodeficiency 27A |
|
Anemia, Lymphadenopathy, Increased circulating IgG level, Salmonella osteomyelitis, Leukocytosis,... |
OMIM:209950 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Autoimmune hemolytic anemia, Systemic lupus erythematosus, Recurrent otitis media, Lymphadenopath... |
ORPHA:444463 |
| Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Rheumatoid factor positive, Antinuclear ant... |
OMIM:618852 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Splenomegaly, Decreased lymphocyte apoptosis, Anti-smooth muscle antibody positivity, Increased c... |
OMIM:603909 |
| Activated Pi3K-Delta Syndrome |
|
Severe cytomegalovirus infection, Recurrent otitis media, Severe Epstein Barr virus infection, He... |
ORPHA:397596 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Autoimmune hemolytic anemia, Recurrent otitis media, Hepatomegaly, Lymphadenopathy, Persistent CM... |
OMIM:618495 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Dysgammaglobulinemia, Decreased circulating IgE, Sclerosing cholangitis, Impaired Ig class switch... |
OMIM:308230 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E... |
OMIM:603902 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Aplastic anemia, Hypertriglyceridemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Recurrent in... |
OMIM:300635 |
| Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Recurrent otitis media, Lymphadenopathy, Recurrent infections, Herpes simplex encephalitis, Incre... |
OMIM:618982 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Recurrent ear infections,... |
OMIM:615513 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, HbH hemoglobin, Abnormal bleeding, Thrombocytopenia, Splenomegaly, Bruising susce... |
ORPHA:231401 |
| Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Recurrent candida infections, Anti-smooth muscle antibody positivity... |
OMIM:610163 |
| Immunodeficiency 24 |
|
Defective T cell proliferation, Reduced proportion of mucosal-associated invariant T cells, Parti... |
OMIM:615897 |
| Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Elevated circulating C-reactive protein concentration, Sterile abscess, Pancytopenia, Arthritis, ... |
OMIM:604416 |
| Immune Thrombocytopenia |
|
Abnormal bleeding, Thrombocytopenia, Platelet antibody positive |
OMIM:188030 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Lymphadenopathy, Elevated circulating C-reactive protein concentration, Neutrophilic infiltration... |
OMIM:618048 |
| Macrophage Activation Syndrome |
|
Decreased liver function, Hypertriglyceridemia, Increased circulating lactate dehydrogenase conce... |
ORPHA:158061 |
| Hemoglobin D Disease |
|
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... |
ORPHA:90039 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Increased circulating antibody level, Decreased proportion of CD3-positive T cells, Lymphocytosis... |
ORPHA:169154 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Increased T cell count, Recurrent sinusitis, Increased circulating IgG level, Decreased circulati... |
ORPHA:98813 |
| Schnitzler Syndrome |
|
Hepatomegaly, Anemia, Lymphadenopathy, Arthritis, Skin rash, Leukocytosis, Increased circulating ... |
ORPHA:37748 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Cholestatic liver disease, Decreased liver function, Hypertriglyceridemia, Elevated circulating h... |
ORPHA:540 |
| Acne Inversa, Familial, 3 |
|
Recurrent cutaneous abscess formation, Acne inversa, Chronic furunculosis, Perifolliculitis |
OMIM:613737 |
| Q Fever |
|
Elevated circulating hepatic transaminase concentration, Increased circulating antibody level, Gr... |
ORPHA:781 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Follicular hyperplasia, Hepatomegaly, Increased circulating antibody level, Recurrent respiratory... |
OMIM:614470 |
| Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Ataxia, Splenomegaly, Gait disturbance |
ORPHA:2274 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Anemia, Lymphadenopathy, Arthritis, Decreased FOXP3-expressing T cell count, Increased circulatin... |
OMIM:304790 |
| Majeed Syndrome |
|
Skin rash, Anemia of inadequate production, Failure to thrive, Hepatosplenomegaly, Inflammatory a... |
OMIM:609628 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Cholangitis, Recurrent lower respiratory tract infections, Panhypogammaglobulinemia, Recurrent ur... |
OMIM:209920 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Recurrent abscess formation, Chronic oral candidiasis, Recurrent candida infections, Failure to t... |
ORPHA:169160 |
| Immunodeficiency 95 |
|
Increased circulating IgG3 level, Recurrent viral upper respiratory tract infections, Recurrent v... |
OMIM:619773 |
| Immunodeficiency 86 |
|
Decreased circulating IgG level, Increased circulating IgM level, Impaired oxidative burst |
OMIM:619549 |
| Beta-Thalassemia |
|
Hepatomegaly, Anemia, Abnormality of iron homeostasis, Cholelithiasis, Respiratory insufficiency,... |
ORPHA:848 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent Staphylococcus aureus infections, Sclerosing cholangitis, Panhypogammaglobulinemia, Ski... |
ORPHA:572 |
| Refractory Celiac Disease |
|
Normocytic anemia, Elevated alkaline phosphatase of bone origin, Elevated circulating hepatic tra... |
ORPHA:398063 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased circulating antibody level, Recurrent sinusitis, Splenomegaly, Hepatosplenomegaly, Incr... |
OMIM:615559 |
| X-Linked Agammaglobulinemia |
|
Chronic otitis media, Anemia, Hypocalcemia, Arthritis, Skin rash, Abnormality of the tonsils, Men... |
ORPHA:47 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Enlarged kidney, Hepatomegaly, Anemia, Increased circulating antibody level, Recurrent infections... |
OMIM:615285 |
| Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Decreased circulating IgG level, Increased circulating Ig... |
OMIM:608106 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgG leve... |
OMIM:606843 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Recurrent lower respiratory tract infections, Chronic lymphatic leukemia, Persistent CMV viremia,... |
OMIM:616005 |
| Immunodeficiency 53 |
|
Recurrent otitis media, Impaired lymphocyte transformation with phytohemagglutinin, Recurrent uri... |
OMIM:617585 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Recurrent infections, Me... |
OMIM:617780 |
| Immunodeficiency 52 |
|
Defective T cell proliferation, Lymphadenopathy, Abnormal natural killer cell count, Persistent C... |
OMIM:617514 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Skin rash, Hypopro... |
OMIM:603553 |
| Immunodeficiency, Common Variable, 2 |
|
Follicular hyperplasia, Recurrent otitis media, Hepatomegaly, Lymphadenopathy, Decreased circulat... |
OMIM:240500 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased proportion of CD3-positive T cells, Skin rash, Recurrent bacterial skin infections, Lym... |
ORPHA:276 |
| Lymphoproliferative Syndrome 2 |
|
Aplastic anemia, EBV encephalitis, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia,... |
OMIM:615122 |
| Reticuloendotheliosis, X-Linked |
|
Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly |
OMIM:312500 |
| Pfapa Syndrome |
|
Hepatomegaly, Recurrent pharyngitis, Lymphadenopathy, Arthritis, Splenomegaly, Weight loss, Infec... |
ORPHA:42642 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Elevated circulating hepatic transaminase concentration, Decreased proportion of CD3-positive T c... |
ORPHA:331206 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Reduced delayed hypersensitivity, Decreased proportion of CD8-positive T cells, Increased circula... |
OMIM:617241 |
| Severe Combined Immunodeficiency, X-Linked |
|
Chronic oral candidiasis, Pneumonia, Hepatomegaly, Impaired lymphocyte transformation with phytoh... |
OMIM:300400 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Congestive heart failure, Normocytic anemia, Hepatomegaly, Abnormal bleeding, Acute myeloid leuke... |
ORPHA:75564 |
| Immunodeficiency 102 |
|
Severe varicella zoster infection, Recurrent sinusitis, Leukopenia, Increased proportion of CD8-p... |
OMIM:301082 |
| Immunodeficiency 37 |
|
Recurrent infections, Decreased circulating antibody level, Decreased proportion of central memor... |
OMIM:616098 |
| Immunodeficiency With Hyper-Igm, Type 2 |
|
Impaired Ig class switch recombination, Complete or near-complete absence of specific antibody re... |
OMIM:605258 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Elevated circulating hepatic transaminase concentration, Cachexia, Splenomegaly, Abnormal blood i... |
ORPHA:37042 |
| Immunodeficiency, Common Variable, 5 |
|
Chronic decreased circulating total IgG, Abnormal T cell count, Antinuclear antibody positivity, ... |
OMIM:613495 |
| Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 23 concentration, Hypochromic microcytic anemia, Recurrent lower ... |
OMIM:619632 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hypertriglyceridemia, Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Skin ras... |
OMIM:603552 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Skin rash, Pustule, Paratracheal lymphadenopathy, Leukopenia, Lymphopenia, Cytoplasmic antineutro... |
OMIM:615934 |
| Lymphoma, Hodgkin, Classic |
|
Polyclonal elevation of IgM |
OMIM:236000 |
| Primary Myelofibrosis |
|
Abnormal bleeding, Hepatomegaly, Anemia, Lymphadenopathy, Purpura, Pancytopenia, Petechiae, Extra... |
ORPHA:824 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Pancreatitis, Elevated circulating alanine aminotransferase concentration, Reduced ... |
OMIM:618805 |
| Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Recurrent otitis media, Increased circulating interleukin 6 concentration, Increased circulating ... |
OMIM:618944 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Recurrent otitis media, B lymphocytopenia, Increased circulating IgE level, Lack of T cell functi... |
ORPHA:277 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Severe varicella zoster infection, T lymphocytopenia, Enlarged tonsils, Psoriasiform dermatitis, ... |
OMIM:606367 |
| Lymphoproliferative Syndrome 1 |
|
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni... |
OMIM:613011 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Jaundice, Anemia, Hemophagocytosis... |
OMIM:267700 |
| Boutonneuse Fever |
|
Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Increased circulating I... |
ORPHA:83313 |
| Immunoerythromyeloid Hypoplasia |
|
Decreased circulating IgG level, Absent leukocyte alkaline phosphatase, Erythroid hypoplasia |
OMIM:242880 |
| Agammaglobulinemia, X-Linked |
|
Decreased circulating IgE, T lymphocytopenia, Recurrent sinusitis, Lymph node hypoplasia, Neutrop... |
OMIM:300755 |
| Immunodeficiency 51 |
|
Chronic oral candidiasis, Recurrent otitis media, Recurrent Staphylococcus aureus infections, Rec... |
OMIM:613953 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Mediastinal lympha... |
OMIM:300853 |
| Omenn Syndrome |
|
Hepatomegaly, Anemia, Lymphadenopathy, Thyroiditis, Abnormal lymphocyte morphology, Erythroderma,... |
ORPHA:39041 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Sclerosing cholangitis, Molluscum contagiosum, Recurrent sinusitis, Reduced natural killer cell c... |
OMIM:243700 |
| Caspase 8 Deficiency |
|
Reduced CD95-induced lymphocyte apoptosis, Lymphadenopathy, Complete or near-complete absence of ... |
OMIM:607271 |
| Hereditary Butyrylcholinesterase Deficiency |
|
Respiratory failure requiring assisted ventilation, Respiratory failure, Paralysis, Abnormality o... |
ORPHA:132 |
| Hyperbilirubinemia, Shunt, Primary |
|
Jaundice, Hepatomegaly, Hyperbilirubinemia, Anemia of inadequate production, Reticulocytosis, Spl... |
OMIM:237800 |
| Mulibrey Nanism |
|
Cachexia, Hepatomegaly |
ORPHA:2576 |
| Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly, Weight loss |
ORPHA:52416 |
| Tn Polyagglutination Syndrome |
|
Autoimmunity, Abnormal erythrocyte morphology |
OMIM:300622 |
| Anemia, Sideroblastic, 4 |
|
Sideroblastic anemia, Abnormal erythrocyte morphology |
OMIM:182170 |
| Isolated Agammaglobulinemia |
|
Pneumonia, Anemia, Inflammatory abnormality of the eye, Arthritis, Skin rash, Abnormal lymphocyte... |
ORPHA:229717 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Chronic otitis media, Recurrent Staphylococcus aureus infections, T lymphocytopenia, Sinusitis, O... |
ORPHA:83471 |
| Hemoglobin H Disease |
|
HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia |
OMIM:613978 |
| Pulmonary Nodular Lymphoid Hyperplasia |
|
Plasmacytosis, Mediastinal lymphadenopathy, Follicular hyperplasia |
ORPHA:60026 |
| Immunodeficiency 32B |
|
BCGitis, Hepatomegaly, Anemia, Recurrent infections, Monocytopenia, Bronchiectasis, Sinusitis, Ab... |
OMIM:226990 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Acute leukemia, Chronic otitis media, Hepatomegaly, Abnormal neutrophil count, Lymphadenopathy, M... |
ORPHA:3226 |
| Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocyte transfo... |
OMIM:153600 |
| Immunodeficiency 97 With Autoinflammation |
|
Hypertriglyceridemia, Granuloma, Increased circulating lactate dehydrogenase concentration, Splen... |
OMIM:619802 |
| Chilblain Lupus |
|
Increased circulating antibody level, Antiphospholipid antibody positivity, Malar rash, Skin rash... |
ORPHA:90280 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal bleeding, Anemia, Abnormal platelet function, Thrombocytopenia, Splenomegaly, Abnormal h... |
ORPHA:231393 |
| Immunodeficiency 115 With Autoinflammation |
|
Intestinal lymphangiectasia, Anemia, Partial absence of specific antibody response to Haemophilus... |
OMIM:620632 |
| Cernunnos-Xlf Deficiency |
|
Anemia, B lymphocytopenia, Decreased circulating antibody level, T lymphocytopenia, Recurrent vir... |
ORPHA:169079 |
| Histiocytosis, Familial Lipochrome |
|
Recurrent infections, Increased alpha-globulin, Histiocytosis, Increased circulating antibody level |
OMIM:235900 |
| Refractory Anemia |
|
Normocytic anemia, Abnormal bleeding, Erythroid hypoplasia, Normochromic anemia, Macrocytic anemi... |
ORPHA:98826 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Recurrent infections, Splenomegaly, Decreased circulating total IgM |
OMIM:606445 |
| Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
| Hemoglobin E Disease |
|
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... |
ORPHA:2133 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Failure to thrive in infancy, Skin rash, Hepatomegaly, Splenomegaly |
OMIM:619175 |
| Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Increased circulating IgG3 level, Recurrent otitis media, Hepatomega... |
OMIM:612783 |
| Autoimmune Hepatitis |
|
Elevated circulating hepatic transaminase concentration, Increased circulating antibody level, Sc... |
ORPHA:2137 |
| Systemic Lupus Erythematosus 17 |
|
Decreased circulating complement C3 concentration, Systemic lupus erythematosus, Myelitis, Malar ... |
OMIM:301080 |
| Majeed Syndrome |
|
Hepatomegaly, Hypochromic microcytic anemia, Acne, Cachexia, Leukocytosis, Synovitis, Failure to ... |
ORPHA:77297 |
| Congenital Enterovirus Infection |
|
Myocarditis, Anemia, Abnormal macrophage morphology, Skin rash, Meningitis, Leukocytosis, Cholest... |
ORPHA:292 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating C-reactive protein concentration,... |
OMIM:617388 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
| Immunodeficiency, Common Variable, 1 |
|
Recurrent otitis media, Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched mem... |
OMIM:607594 |
| Neutrophilia, Hereditary |
|
Neutrophilia, Splenomegaly |
OMIM:162830 |
| Autosomal Erythropoietic Protoporphyria |
|
Decreased liver function, Cirrhosis, Cholelithiasis, Eczematoid dermatitis, Abnormal circulating ... |
ORPHA:79278 |
| Complement Component C1S Deficiency |
|
Hashimoto thyroiditis, Hepatitis, Abnormality of complement system, Systemic lupus erythematosus |
OMIM:613783 |
| Idiopathic Pulmonary Hemosiderosis |
|
Anti-smooth muscle antibody positivity, Hepatomegaly, Iron deficiency anemia, Rheumatoid factor p... |
ORPHA:99931 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent otitis media, Hepatomegaly, Hemo... |
OMIM:301078 |
| Immunodeficiency 48 |
|
Recurrent candida infections, Pneumocystis carinii pneumonia, Impaired lymphocyte transformation ... |
OMIM:269840 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Myocarditis, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Lymphocyto... |
ORPHA:139402 |
| Diamond-Blackfan Anemia 13 |
|
Normocytic anemia, Elevated red cell adenosine deaminase activity |
OMIM:615909 |
| Immunodeficiency 23 |
|
Recurrent Staphylococcus aureus infections, Molluscum contagiosum, Severe varicella zoster infect... |
OMIM:615816 |
| Immunodeficiency 69 |
|
BCGitis, Increased circulating ferritin concentration, Anemia, Hemophagocytosis, Pancytopenia, BC... |
OMIM:618963 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Chronic oral candidiasis, Deep dermatophytosis, Lymphadenopathy, Abnormal natural killer cell cou... |
OMIM:212050 |
| Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating total IgM, Decreased circulating IgE, Persistent EBV viremia, T lymphocytop... |
OMIM:619510 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Anemia, Hemophagocytosis, Lymphadenopathy, Decreased circulating antibody l... |
OMIM:613101 |
| Immunodeficiency 105 |
|
Decreased circulating total IgM, Impaired lymphocyte transformation with phytohemagglutinin, Panc... |
OMIM:619924 |
| Zika Virus Disease |
|
Myelitis, Arthritis, Skin rash, Increased circulating IgM level, Thrombocytopenia, Pruritus, Infe... |
ORPHA:448237 |
| Spinocerebellar Ataxia 48 |
|
Babinski sign, Cachexia, Chorea, Tremor, Gait ataxia, Ataxia, Parkinsonism, Dysmetria |
OMIM:618093 |
| Niemann-Pick Disease, Type A |
|
Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Bone-marrow foam cells, Ascites, Elevated ... |
OMIM:257200 |
| Lupus Erythematosus Tumidus |
|
Deep dermal perivascular inflammatory infiltrate, Anti-dsDNA antibody positivity, Autoimmune anti... |
ORPHA:90283 |
| Immunodeficiency 62 |
|
Decreased circulating total IgM, Recurrent lower respiratory tract infections, Complete or near-c... |
OMIM:618459 |
| Immunodeficiency 46 |
|
Chronic oral candidiasis, Anemia, Decreased circulating antibody level, Failure to thrive, Recurr... |
OMIM:616740 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... |
ORPHA:251380 |
| Brucellosis |
|
Granuloma, Pericarditis, Leukopenia, Splenomegaly, Anterior uveitis, Myocarditis, Increased circu... |
ORPHA:1304 |
| Immunodeficiency 104 |
|
Hepatomegaly, Recurrent otitis media, Failure to thrive secondary to recurrent infections, Lympha... |
OMIM:608971 |
| Omenn Syndrome |
|
Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoproteinemia, Erythroderma, Hypoplas... |
OMIM:603554 |
| Immunodeficiency 113 With Autoimmunity And Autoinflammation |
|
Autoimmune hemolytic anemia, Hepatomegaly, Recurrent respiratory infections, Elevated circulating... |
OMIM:620565 |
| Insulin Autoimmune Syndrome |
|
Increased circulating antibody level, Arthralgia/arthritis, Autoimmune antibody positivity, Weigh... |
ORPHA:411593 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Anemia, Hypochromia, Sideroblastic anemia, Decreased mean corpuscular volume, Elevated transferri... |
OMIM:205950 |
| Pgm3-Cdg |
|
Chronic otitis media, Decreased proportion of CD3-positive T cells, Reduced antigen-specific T ce... |
ORPHA:443811 |
| Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating antibody level, Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity... |
ORPHA:3261 |
| Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy |
|
Monoclonal immunoglobulin M proteinemia, Increased circulating beta-2-microglobulin level, Cryogl... |
ORPHA:209004 |
| Erythrocytosis, Familial, 8 |
|
Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... |
OMIM:222800 |
| Erythroderma, Lethal Congenital |
|
Failure to thrive, Congenital exfoliative erythroderma, Hypoalbuminemia |
OMIM:227090 |
| Immunodeficiency 18 |
|
Defective T cell proliferation, Recurrent otitis media, Decreased circulating total IgM, Decrease... |
OMIM:615615 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Increased circulating antibody level, Plasmacytosis, Lymphopenia, Pn... |
OMIM:247800 |
| Hepatoportal Sclerosis |
|
Prolonged prothrombin time, Gastrointestinal hemorrhage, Elevated circulating hepatic transaminas... |
ORPHA:64743 |
| Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Lymphadenopathy, Elevated circulating C-reactive protein concentration, Decreased circulating ant... |
OMIM:619750 |
| Immunodeficiency 61 |
|
Recurrent otitis media, Decreased circulating IgG4 level, Obesity, Recurrent sinusitis, Decreased... |
OMIM:300310 |
| Wilson Disease |
|
Cirrhosis, Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentratio... |
ORPHA:905 |
| Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
| Acute Myelomonocytic Leukemia |
|
Abnormal bleeding, Anemia, Leukocytosis, Thrombocytopenia, Weight loss, Eosinophilia |
ORPHA:517 |
| Sickle Cell Anemia |
|
Ischemic stroke, Chronic hemolytic anemia, Jaundice, Iron deficiency anemia, Cholelithiasis, Incr... |
ORPHA:232 |
| Leishmaniasis |
|
Hepatomegaly, Anemia, Lymphadenopathy, Increased circulating antibody level, Pancytopenia, Abnorm... |
ORPHA:507 |
| Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas... |
OMIM:133180 |
| Avian Influenza |
|
Elevated circulating hepatic transaminase concentration, Myelitis, Elevated circulating C-reactiv... |
ORPHA:454836 |
| C1Q Deficiency 3 |
|
Recurrent bacterial meningitis, Discoid lupus rash, Antinuclear antibody positivity, Decreased ci... |
OMIM:620322 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Autoimmune hemolytic anemia, Hepatomegaly, Recurrent lower respiratory tract infections, Lymphade... |
OMIM:616100 |
| Congenital Lethal Erythroderma |
|
Respiratory insufficiency, Failure to thrive, Congenital exfoliative erythroderma, Hypoalbuminemia |
ORPHA:1954 |
| Immunoglobulin A Deficiency 2 |
|
Abnormal lymphocyte morphology, Recurrent infection of the gastrointestinal tract, Recurrent sino... |
OMIM:609529 |
| Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Hepatomegaly, Pruritus, Elevated circulating alanine aminotransferase concentration, Elevated cir... |
OMIM:619874 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Pneumonia, Recurrent otitis media, Pyoderma, Prostatitis, Panhypogammaglobulinemia, Recurrent uri... |
OMIM:307200 |
| Wiskott-Aldrich Syndrome |
|
Hematemesis, Spontaneous hematomas, Chronic otitis media, Abnormal platelet function, Sinusitis, ... |
ORPHA:906 |
| Polycythemia Vera |
|
Gastrointestinal hemorrhage, Increased red blood cell mass, Leukocytosis, Cerebral ischemia, Budd... |
OMIM:263300 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Anemia, Decreased circulating IgE, Pancytopenia, Recurrent infections, B lymphocytopenia, Increas... |
OMIM:619824 |
| Mu-Heavy Chain Disease |
|
Hepatomegaly, Anemia, Lymphadenopathy, Increased circulating antibody level, Splenomegaly, Abnorm... |
ORPHA:100024 |
| Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Abnormal platelet function, Decreased circulating a... |
ORPHA:2585 |
| Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormal lymph node morphology |
OMIM:136580 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Hypertriglyceridemia, Recurrent lower respiratory tract infections, Persistent EBV viremia, Pancy... |
OMIM:620282 |
| Immunodeficiency 7 |
|
Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent otitis media, Hepatomegaly, Lymp... |
OMIM:615387 |
| Autosomal Agammaglobulinemia |
|
Chronic otitis media, Recurrent infections, Arthritis, Skin rash, Meningitis, Agammaglobulinemia,... |
ORPHA:33110 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Anti-dsDNA ... |
OMIM:619375 |
| Niemann-Pick Disease, Type B |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Sea-blue histiocytosis, Anemia, He... |
OMIM:607616 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Crohn's disease, Optic neuritis, Splenomegaly, Psoriasiform dermatitis, Thyroiditis, Decreased ci... |
ORPHA:436159 |
| Adult-Onset Still Disease |
|
Abnormal circulating lipid concentration, Elevated circulating hepatic transaminase concentration... |
ORPHA:829 |
| Multicentric Reticulohistiocytosis |
|
Cachexia, Histiocytosis, Arthritis |
ORPHA:139436 |
| Prolidase Deficiency |
|
Hepatomegaly, Anemia, Increased circulating antibody level, Recurrent infections, Eczematoid derm... |
OMIM:170100 |
| Neonatal Lupus Erythematosus |
|
Aplastic anemia, Elevated circulating hepatic transaminase concentration, Prolonged QT interval, ... |
ORPHA:398124 |
| Alpha-Thalassemia |
|
Anisopoikilocytosis, Hemoglobin Barts, Congestive heart failure, Jaundice, Anemia, Cholelithiasis... |
ORPHA:846 |
| Immunodeficiency 114, Folate-Responsive |
|
Hypertriglyceridemia, Hepatomegaly, Recurrent lower respiratory tract infections, Megaloblastic a... |
OMIM:620603 |
| Autoinflammation With Infantile Enterocolitis |
|
Increased circulating ferritin concentration, Anemia, Elevated circulating C-reactive protein con... |
OMIM:616050 |
| Aspergillosis |
|
Invasive pulmonary aspergillosis, Increased circulating IgE level, Meningitis, Bronchiectasis, Si... |
ORPHA:1163 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Cholestatic liver disease, Elevated circulating hepatic transaminase concentration, Sclerosing ch... |
ORPHA:562639 |
| Aicardi-Goutieres Syndrome 6 |
|
Hepatomegaly, Chilblains, Thrombocytopenia, Splenomegaly, Increased circulating Interferon-alpha ... |
OMIM:615010 |
| Hepatic Venoocclusive Disease With Immunodeficiency |
|
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center |
OMIM:235550 |
| Immunodeficiency 75 With Lymphoproliferation |
|
Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy, Decreased proportion of class-switch... |
OMIM:619126 |
| Adult Idiopathic Neutropenia |
|
Recurrent aphthous stomatitis, Recurrent infections, Increased circulating IgM level, Helicobacte... |
ORPHA:2688 |
| Hepatic Veno-Occlusive Disease |
|
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Increased body w... |
ORPHA:890 |
| Blue Rubber Bleb Nevus |
|
Prolonged bleeding time, Skin rash, Microcytic anemia, Intestinal bleeding |
ORPHA:1059 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,... |
OMIM:615631 |
| Tularemia |
|
Pneumonia, Cervical lymphadenopathy, Anemia, Mediastinal lymphadenopathy, Lymphadenopathy, Inflam... |
ORPHA:3392 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Lymphopenia, Recurrent Aspergillus infections, Thyroiditis, Recurrent herpes, Hepatosplenomegaly,... |
ORPHA:391487 |
| Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
| Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Purpura, Hepatomegaly, Anemia, Petechiae, Interstitial pneumonitis, Vasculitis in the skin, Splen... |
OMIM:620296 |
| American Trypanosomiasis |
|
Myocarditis, Hepatomegaly, Lymphadenopathy, Skin rash, Autoimmune antibody positivity, Splenomega... |
ORPHA:3386 |
| Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia |
OMIM:619523 |
| Immunodeficiency 50 |
|
Recurrent urinary tract infections, Decreased circulating antibody level, Eczematoid dermatitis, ... |
OMIM:300988 |
| Legionnaires Disease |
|
Myocarditis, Jaundice, Pancreatitis, Recurrent pharyngitis, Lymphadenopathy, Respiratory insuffic... |
ORPHA:549 |
| Reticular Dysgenesis |
|
Chronic otitis media, Anemia, Skin rash, Decreased circulating antibody level, Failure to thrive,... |
ORPHA:33355 |
| Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
| Pontocerebellar Hypoplasia, Type 1C |
|
Respiratory insufficiency, Tongue fasciculations, Spastic tetraparesis, Failure to thrive, Respir... |
OMIM:616081 |
| Felty Syndrome |
|
Chronic otitis media, Sinusitis, Pericarditis, Bone marrow hypocellularity, Splenomegaly, Neutrop... |
ORPHA:47612 |
| Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Decreased circulating IgG level, Recurrent candida infections, Recurrent bacterial infections, T ... |
OMIM:242870 |
| Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy, Axillary lymphadenopathy, Inguinal lymphadenopathy |
OMIM:616126 |
| Igg4-Related Aortitis |
|
Increased circulating antibody level, Elevated circulating C-reactive protein concentration, Incr... |
ORPHA:449400 |
| Squamous Cell Carcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99977 |
| Aids Wasting Syndrome |
|
Cachexia, Weight loss |
ORPHA:90081 |
| Klippel-Trénaunay Syndrome |
|
Congestive heart failure, Gastrointestinal hemorrhage, Hepatomegaly, Respiratory insufficiency, A... |
ORPHA:90308 |
| Spinocerebellar Ataxia 34 |
|
Limb ataxia, Fasciculations, Spasticity, Dysdiadochokinesis, Erythroderma, Intention tremor, Gait... |
OMIM:133190 |
| Immunodeficiency 22 |
|
Chronic oral candidiasis, Decreased circulating total IgM, Anemia, Panniculitis, Recurrent lower ... |
OMIM:615758 |
| Bullous Diffuse Cutaneous Mastocytosis |
|
Erythroderma, Cardiorespiratory arrest, Pruritus, Cutaneous mastocytosis |
ORPHA:280785 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Panniculitis, Lymphadenopathy, Increased proportion of CD4-positive T cells, Elevated circulating... |
OMIM:617099 |
| Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag |
|
Monoclonal immunoglobulin M proteinemia |
ORPHA:639 |
| Sézary Syndrome |
|
Hepatomegaly, Lymphadenopathy, Abnormal immunoglobulin level, Abnormal lymphocyte morphology, Spl... |
ORPHA:3162 |
| Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Periodontitis, Neutropenia |
OMIM:162700 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Recurrent infections, Increased B cell count, Splenomegaly, Decreased circulating total IgM, Decr... |
OMIM:616452 |
| Glycine Encephalopathy 2 |
|
Respiratory failure, Nonketotic hyperglycinemia |
OMIM:620398 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly... |
OMIM:619013 |
| Bleeding Disorder, Platelet-Type, 9 |
|
Bruising susceptibility, Thrombocytopenia |
OMIM:614200 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Minimal change glomerulonephritis, De... |
OMIM:617006 |
| Acute Erythroid Leukemia |
|
Anemia, Erythroid hypoplasia, Pancytopenia, Bone marrow hypocellularity, Leukopenia, Monoclonal i... |
ORPHA:318 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Congestive heart failure, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concent... |
OMIM:615895 |
| Gray Platelet Syndrome |
|
Abnormal bleeding, Thrombocytopenia, Splenomegaly, Epistaxis, Bruising susceptibility, Abnormalit... |
ORPHA:721 |
| Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Cirrhosis, Anti-smooth muscle antibody positivity, Cholangitis, Pancytopenia, Recurrent infection... |
ORPHA:228426 |
| Agammaglobulinemia 2, Autosomal Recessive |
|
Abnormal T cell morphology, Recurrent otitis media, Agammaglobulinemia, Recurrent pneumonia, Decr... |
OMIM:613500 |
| Griscelli Syndrome |
|
Abnormal circulating lipid concentration, Jaundice, Hepatomegaly, Lymphadenopathy, Decreased circ... |
ORPHA:381 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Abnormal T cell morphology, Recurrent otitis media, Decreased circulating IgG level, Recurrent pn... |
OMIM:613502 |
| Immunodeficiency 44 |
|
Abnormal circulating IgG level, Elevated circulating alanine aminotransferase concentration, Seve... |
OMIM:616636 |
| Diffuse Alveolar Hemorrhage |
|
Respiratory failure requiring assisted ventilation, Anemia, Antiphospholipid antibody positivity,... |
ORPHA:90060 |
| Combined Oxidative Phosphorylation Deficiency 51 |
|
Aspiration pneumonia, Rigidity, Myoclonus, Respiratory failure, Neonatal respiratory distress, Sm... |
OMIM:619057 |
| Trimethylaminuria |
|
Anemia, Hypertension, Recurrent pneumonia, Splenomegaly, Tachycardia, Neutropenia |
OMIM:602079 |
| Amyotrophic Lateral Sclerosis 28 |
|
Chaddock reflex, Babinski sign, Difficulty walking, Fasciculations, Respiratory failure |
OMIM:620452 |
| Selective Igm Deficiency |
|
Decreased proportion of CD3-positive T cells, Crohn's disease, Decreased proportion of transition... |
ORPHA:331235 |
| Bacterial Toxic-Shock Syndrome |
|
Skin rash, Severe varicella zoster infection, Sinusitis, Elevated circulating creatinine concentr... |
ORPHA:36234 |
| Gamma-Heavy Chain Disease |
|
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Skin rash, Abnormal lymphocyt... |
ORPHA:100026 |
| Bilateral Striopallidodentate Calcinosis |
|
Abnormality of the liver, Subcutaneous hemorrhage, Hepatomegaly, Thrombocytopenia |
ORPHA:1980 |
| Immunodeficiency, Common Variable, 4 |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:613494 |
| Glycine N-Methyltransferase Deficiency |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration |
OMIM:606664 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Eyelid myoclonus, Difficulty walking, Inability to walk, Tremor, Waddling gait, Limb myoclonus, F... |
ORPHA:2590 |
| Wolman Disease |
|
Hepatomegaly, Anemia, Cachexia, Bone-marrow foam cells, Ascites, Splenomegaly, Hepatic failure |
ORPHA:75233 |
| Immunodeficiency 112 |
|
BCGitis, Recurrent lower respiratory tract infections, Decreased proportion of gamma-delta T cell... |
OMIM:620449 |
| Dermatitis Herpetiformis |
|
Autoimmunity, Microcytic anemia, Pruritus, Eczematoid dermatitis |
ORPHA:1656 |
| Whipple Disease |
|
Myocarditis, Hepatomegaly, Anemia, Mediastinal lymphadenopathy, Myositis, Arthritis, Respiratory ... |
ORPHA:3452 |
| Systemic Lupus Erythematosus |
|
Antiphospholipid antibody positivity, Malar rash, Arthritis, Pericarditis, Nephritis, Antinuclear... |
OMIM:152700 |
| Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
| Dehydrated Hereditary Stomatocytosis |
|
Macrocytic anemia, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Congenital hem... |
ORPHA:3202 |
| Immunodeficiency, Common Variable, 3 |
|
Recurrent otitis media, Decreased proportion of class-switched memory B cells, Chronic decreased ... |
OMIM:613493 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Anemia of inadequate production, Reticulocytosis, Unconjugated hyperbilirubinemia, Circulating nu... |
OMIM:613673 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Spontaneous hematomas, Abnormal bleeding, Anemia, Menorrhagia, Thrombocytopenia, Epistaxis, Macro... |
OMIM:616176 |
| Immunodeficiency 60 And Autoimmunity |
|
Decreased basophil count, Decreased circulating total IgM, Decreased circulating IgE, Pancytopeni... |
OMIM:618394 |
| Aicardi-Goutieres Syndrome 3 |
|
Elevated circulating hepatic transaminase concentration, Thrombocytopenia, Hepatosplenomegaly, Ch... |
OMIM:610329 |
| Immunodeficiency 54 |
|
Hepatomegaly, Lymphadenopathy, Respiratory insufficiency, Failure to thrive, Recurrent viral infe... |
OMIM:609981 |
| Bone Marrow Failure Syndrome 4 |
|
Anemia, Decreased circulating antibody level, Eczematoid dermatitis, Bone marrow hypocellularity,... |
OMIM:618116 |
| Congenital Disorder Of Glycosylation, Type Icc |
|
Hepatomegaly |
OMIM:301031 |
| Complement Component 8 Deficiency, Type I |
|
Meningitis, Decreased circulating complement C8 concentration, Systemic lupus erythematosus |
OMIM:613790 |
| C1Q Deficiency 2 |
|
Pneumocystis carinii pneumonia, Anemia, Recurrent otitis media, Recurrent lower respiratory tract... |
OMIM:620321 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Lupus anticoagulant, Skin rash, Antinuclear antibody positivity, Thrombocytopenia, Anterior uveit... |
OMIM:616744 |
| Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Ulcerative colitis, Anemia, Leukocytosis, Elevated circulating C-reactive protein concentration |
OMIM:619398 |
| Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Chronic oral candidiasis, Recurrent aphthous stomatitis, Decreased proportion of CD3-positive T c... |
ORPHA:275 |
| Combined Immunodeficiency, X-Linked |
|
Pneumocystis carinii pneumonia, Decreased proportion of CD8-positive T cells, Abnormal natural ki... |
OMIM:312863 |
| Benign Cephalic Histiocytosis |
|
Skin rash, Inflammatory abnormality of the skin, Histiocytosis |
ORPHA:157997 |
| Primary Biliary Cholangitis |
|
Abnormal circulating lipid concentration, Ascites, Onychomycosis, Biliary cirrhosis, Splenomegaly... |
ORPHA:186 |
| Wiskott-Aldrich Syndrome 2 |
|
Defective T cell proliferation, Decreased proportion of CD8-positive T cells, Recurrent infection... |
OMIM:614493 |
| Agammaglobulinemia 9, Autosomal Recessive |
|
Seborrheic dermatitis, Eczematoid dermatitis, Failure to thrive, Thrombocytopenia, Agammaglobulin... |
OMIM:619693 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Monocytosis, B lymphocytopenia, Leukocytosis, Inflammation of the large intestine, Decreased circ... |
OMIM:619281 |
| Spinocerebellar Ataxia Type 23 |
|
Limb ataxia, Babinski sign, Impaired proprioception, Progressive cerebellar ataxia, Impaired dist... |
ORPHA:101108 |
| Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Increased circulating IgE level, Blepharitis, Failure to thrive, Pustule, Erythroderma |
OMIM:614328 |
| Agammaglobulinemia 10, Autosomal Dominant |
|
Agammaglobulinemia, Decreased circulating IgG level, Recurrent sinusitis, Transient neutropenia, ... |
OMIM:619707 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
B lymphocytopenia, Decreased circulating IgG level, Failure to thrive in infancy, Abnormally low ... |
OMIM:618987 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Chronic neutropenia, Decreased specific antibody response to vaccination, Recurrent sinusitis, Sp... |
OMIM:614700 |
| Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Respiratory insufficiency, Respiratory failure, Hypertonia, Rigidity |
OMIM:613869 |
| Immunodeficiency, Common Variable, 6 |
|
Enlarged kidney, Hepatomegaly, Recurrent respiratory infections, Complete or near-complete absenc... |
OMIM:613496 |
| Rhabdoid Tumor |
|
Anemia, Lymphadenopathy, Respiratory insufficiency, Hypertension, Internal hemorrhage, Thrombocyt... |
ORPHA:69077 |
| Ige Responsiveness, Atopic |
|
Increased circulating IgE level, Allergic rhinitis, Eczematoid dermatitis |
OMIM:147050 |
| Mast Cell Sarcoma |
|
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly, Weight loss |
ORPHA:66661 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Petechiae, Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thro... |
OMIM:314050 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,... |
OMIM:616689 |
| Von Willebrand Disease |
|
Gastrointestinal hemorrhage, Muscle hemorrhage, Petechiae, Abnormal platelet function, Menorrhagi... |
ORPHA:903 |
| Desmoplastic Small Round Cell Tumor |
|
Hepatomegaly, Anemia, Neoplasm of the pancreas, Lymphadenopathy, Abnormal peritoneum morphology, ... |
ORPHA:83469 |
| Chromosome 5Q Deletion Syndrome |
|
Anemia of inadequate production, Erythroid hypoplasia, Refractory macrocytic anemia |
OMIM:153550 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Hepatomegaly, Decreased circulating total IgM, Recurrent urinary tract infections, Decreased circ... |
OMIM:620210 |
| Deafness, Neural, With Atypical Atopic Dermatitis |
|
Increased circulating IgE level, Late onset atopic dermatitis |
OMIM:221700 |
| Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Erythroid hypoplasia, Acute myeloid leukemia, Macrocytic anemia, Abnormal neutrophil morphology, ... |
ORPHA:86841 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Aplasia/Hypoplasia of the spleen, Non-caseating epithelioid cell granulomatosis, Macrocytic anemi... |
ORPHA:227990 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia |
OMIM:183350 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Autoimmune hemolytic anemia, Recurrent infections, Decreased circulating antibody level, Recurren... |
OMIM:616576 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Abnormal bleeding, Hepatomegaly, Anemia, Abnormal lymph node morphology, Petechiae, Leukocytosis,... |
OMIM:612840 |
| Dengue Fever |
|
Gastrointestinal hemorrhage, Hepatomegaly, Petechiae, Skin rash, Hypoproteinemia, Gingival bleedi... |
ORPHA:99828 |
| Pneumocystosis |
|
Respiratory failure requiring assisted ventilation, Chronic oral candidiasis, Abnormal neutrophil... |
ORPHA:723 |
| Drug-Induced Lupus Erythematosus |
|
Decreased circulating complement C3 concentration, Lupus anticoagulant, Anemia, Elevated circulat... |
ORPHA:231111 |
| Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Jaundice, Hepatomegaly, Skin rash, Anemia of inadequate production, Failure to thrive, Exocrine p... |
OMIM:612714 |
| Thrombocytopenia 5 |
|
Anemia, Increased mean corpuscular volume, Petechiae, B Acute Lymphoblastic Leukemia, Thrombocyto... |
OMIM:616216 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Limb fasciculations, Distal sensory impairmen... |
ORPHA:90117 |
| Sea-Blue Histiocyte Disease |
|
Cirrhosis, Sea-blue histiocytosis, Elevated circulating alanine aminotransferase concentration, T... |
OMIM:269600 |
| Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Respiratory failure, Respiratory insufficiency due to muscle weakness, Loss of ambulation |
OMIM:300717 |
| Atransferrinemia |
|
Abnormality of the liver, Congestive heart failure, Hypochromic anemia, Atransferrinemia |
OMIM:209300 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Recurrent abscess formation, Elevated circulating hepatic transaminase concentration, Panhypogamm... |
ORPHA:79124 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Bone marrow hypo... |
OMIM:619041 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hypertriglyceridemia, Hepatomegaly, Anemia, Panniculitis, Lymphadenopathy, Increased circulating ... |
OMIM:617591 |
| Fetal Cytomegalovirus Syndrome |
|
Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Thromboc... |
ORPHA:294 |
| Immunodeficiency 76 |
|
Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia |
OMIM:619164 |
| Typhoid |
|
Skin rash, Hepatomegaly, Splenomegaly, Infectious encephalitis |
ORPHA:99745 |
| Rift Valley Fever |
|
Jaundice, Anemia, Elevated circulating hepatic transaminase concentration, Increased circulating ... |
ORPHA:319251 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Skin rash, Sinusitis, Splenomegaly, Lymphopenia, Aplasia of the thymus, Decreased circulating IgG... |
OMIM:102700 |
| Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Recurren... |
OMIM:243150 |
| Eosinophilia, Familial |
|
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis |
OMIM:131400 |
| Aggressive Systemic Mastocytosis |
|
Decreased liver function, Gastrointestinal hemorrhage, Anemia, Increased proportion of CD25+ mast... |
ORPHA:98850 |
| Complement Component C1R/C1S Deficiency |
|
Arthritis, Discoid lupus rash, Reduced circulating complement concentration, Nephritis, Autoimmunity |
OMIM:216950 |
| Systemic Lupus Erythematosus 16 |
|
Decreased circulating complement C3 concentration, Anti-dsDNA antibody positivity, Perinuclear an... |
OMIM:614420 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Limb ataxia, Hepatomegaly, Distal sensory impairment, Impaired pain sensation, Spasticity, Tremor... |
OMIM:616719 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Skin rash, Psoriasiform dermatitis, Cholecystitis, Allergic rhinitis, Cholangitis, Recurrent tons... |
ORPHA:183675 |
| Immunodeficiency 16 |
|
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia |
OMIM:615593 |
| Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Recurren... |
OMIM:619644 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Anemia, Thrombocytosis, Increased circulating antibody level, Congenital agranulocytosis, Acute m... |
OMIM:202700 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 3 |
|
Autoimmune hemolytic anemia, Recurrent otitis media, Increased circulating interleukin 6 concentr... |
OMIM:620430 |
| Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Increased circulating IgE level, Disseminated molluscum contagiosum, Atopic dermatitis... |
OMIM:617638 |
| 3-Methylglutaconic Aciduria, Type V |
|
Congestive heart failure, Prolonged QT interval, Microvesicular hepatic steatosis, Noncompaction ... |
OMIM:610198 |
| Transcobalamin Deficiency |
|
Pancytopenia, Decreased circulating antibody level, Decreased circulating IgG level, Thrombocytop... |
ORPHA:859 |
| Rft1-Cdg |
|
Failure to thrive, Hepatomegaly, Ataxia |
ORPHA:244310 |
| Babesiosis |
|
Jaundice, Hepatomegaly, Recurrent pharyngitis, Recurrent infections, Respiratory insufficiency, T... |
ORPHA:108 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Splenomegaly, Chro... |
ORPHA:158048 |
| 3-Methylglutaconic Aciduria Type 1 |
|
Failure to thrive, Spastic tetraparesis, Hepatomegaly, Progressive cerebellar ataxia |
ORPHA:67046 |
| Atypical Hemolytic Uremic Syndrome |
|
Decreased circulating complement factor I concentration, Decreased circulating complement factor ... |
ORPHA:2134 |
| Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Respiratory failure, Tremor, Ataxia |
OMIM:618637 |
| Immunodeficiency, Common Variable, 11 |
|
Decreased proportion of class-switched memory B cells, Crohn's disease, Increased circulating IgE... |
OMIM:615767 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hepatomegaly, Hyperbilirubinemia, Macrocytic dyserythropoietic anemia, Anemia of inadequate produ... |
OMIM:224120 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Anemia, Pancreatitis, Macrocytic anemia, Respiratory insufficiency, Cardiomyopathy,... |
ORPHA:27 |
| Immunodeficiency 96 |
|
Defective T cell proliferation, Recurrent otitis media, Decreased circulating total IgM, Recurren... |
OMIM:619774 |
| Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly |
OMIM:206400 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Hypertriglyceridemia, Increased circulating ferritin concentration, Anemia, Acute myeloid leukemi... |
ORPHA:158057 |
| Immunodeficiency, Common Variable, 7 |
|
Decreased circulating total IgG, Chronic partially decreased circulating IgG1, Recurrent infectio... |
OMIM:614699 |
| Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Pancytopenia, Increased mean corpuscular volume, Anti-glutamic acid decarboxylase antibody positi... |
OMIM:620044 |
| Cholesteryl Ester Storage Disease |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased circulating lactate dehy... |
OMIM:278000 |
| Mitochondrial Dna Depletion Syndrome 18 |
|
Failure to thrive, Microcytic anemia |
OMIM:618811 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Abnormal bleeding, Neutrophil inclusion bodies, Giant platelets, Impaired epinephrine-induced pla... |
OMIM:155100 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr... |
OMIM:194380 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Sideroblastic anemia, Hypochromic anemia, Failure to thrive, Microcytic anemia, Erythroid hyperpl... |
OMIM:600462 |
| Scrub Typhus |
|
Myocarditis, Lymphadenopathy, Skin rash, Splenomegaly, Anterior uveitis, Meningitis, Infectious e... |
ORPHA:83317 |
| Immunodeficiency, Common Variable, 14 |
|
Decreased specific antibody response to vaccination, Decreased circulating IgG level, Recurrent s... |
OMIM:617765 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Lymphadenopathy, Elevated circulating C-reactive protein concentration, Lymphocytosis, Decreased ... |
OMIM:617718 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Hypocholesterolemia, Hypersplenism |
OMIM:610539 |
| Immunodeficiency 92 |
|
Recurrent oral herpes, Hepatomegaly, Cholangitis, Sclerosing cholangitis, Decreased proportion of... |
OMIM:619652 |
| Preeclampsia/Eclampsia 1 |
|
Elevated circulating hepatic transaminase concentration, Hypertension, Thrombocytopenia |
OMIM:189800 |
| Immune Dysregulation, Autoimmunity, And Autoinflammation |
|
Cervical lymphadenopathy, Anemia, Increased circulating interleukin 6 concentration, Petechiae, G... |
OMIM:620514 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Anemia, Pancreatitis, Cardiomyopathy, Failure to thrive, Hyperammonemia, Thrombocyt... |
ORPHA:79312 |
| Autoinflammatory Disease, Systemic, With Vasculitis |
|
Cholestasis, Increased T cell count, Anti-Sm antibody positivity, Splenomegaly, Cardiomegaly, Jau... |
OMIM:620376 |
| Spinocerebellar Ataxia 40 |
|
Broad-based gait, Dysdiadochokinesis, Tremor, Gait ataxia, Intention tremor, Ataxia, Unsteady gai... |
OMIM:616053 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Failure to thrive, Elevated circulating hepatic transaminase concentration, Microcytic anemia, Ec... |
OMIM:612379 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly |
OMIM:224100 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Recurrent otitis media, Absent isohemagglutinin level, Recurrent lowe... |
OMIM:613501 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Aplasia/Hypoplasia of the spleen, Non-caseating epithelioid cell granulomatosis, Macrocytic anemi... |
ORPHA:227982 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Abnormal T cell morphology, Panhypogammaglobulinemia, Recurrent infections, Agammaglobulinemia, E... |
OMIM:615214 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Lymphocytosis, Skin rash, Recurrent bacterial skin infections, Decreased lymphocyte proliferation... |
ORPHA:911 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Anemia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated hepatic iron co... |
OMIM:615234 |
| Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Acute myeloid leukemia, Monocytosis, Eczematoid dermatitis, Bone marrow hypocellularity, Leukopen... |
OMIM:616871 |
| Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Lymphadenopathy, Lymphocytosis, Myeloproliferative dis... |
ORPHA:79456 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Failure to thrive secondary to recurrent infections, Panhypogammaglobulinemia, B lymph... |
OMIM:601457 |
| Juvenile Arthritis |
|
Skin rash, Thrombocytosis, Antinuclear antibody positivity, Leukocytosis |
OMIM:618795 |
| Kerion Celsi |
|
Recurrent cutaneous abscess formation, Lymphadenopathy |
ORPHA:499 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Abnormal T cell morphology, Recurrent otitis media, B lymphocytopenia, Recurrent bronchitis, Decr... |
OMIM:612692 |
| Panniculitis-Induced Localized Lipodystrophy |
|
Inflammatory abnormality of the skin, Antinuclear antibody positivity, Abnormal immunoglobulin level |
ORPHA:90159 |
| Spinal Muscular Atrophy, Type I |
|
Respiratory insufficiency, Respiratory failure, Tongue fasciculations |
OMIM:253300 |
| Alexander Disease Type I |
|
Cachexia, Spasticity, Failure to thrive, Ataxia, Abnormal pyramidal sign, Palatal tremor |
ORPHA:363717 |
| Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hepatomegaly, Pancytopenia, Portal hypertension, Hashimoto thyroiditis, Failure to thrive in infa... |
OMIM:613385 |
| Encephalopathy Due To Prosaposin Deficiency |
|
Respiratory insufficiency, Hepatomegaly, Splenomegaly, Myoclonus |
ORPHA:139406 |
| Classic Hodgkin Lymphoma |
|
Hepatomegaly, Respiratory insufficiency, Skin rash, Ataxia, Splenomegaly, Weight loss, Pruritus |
ORPHA:391 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Jaundice, Elevated circulating hepatic transaminase concentration, Iron deficiency anemia, Hepato... |
OMIM:616278 |
| Hemochromatosis, Type 2B |
|
Congestive heart failure, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase conc... |
OMIM:613313 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Jaundice, Portal fibrosis, Hepatomegaly, Increased serum bile acid concentration, Hypercholestero... |
OMIM:619868 |
| Sea-Blue Histiocytosis |
|
Abnormal bleeding, Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Petechiae, ... |
ORPHA:158029 |
| Bernard-Soulier Syndrome |
|
Purpura, Abnormal bleeding, Giant platelets, Gastrointestinal hemorrhage, Gingival bleeding, Meno... |
OMIM:231200 |
| Netherton Syndrome |
|
Increased circulating IgE level, Chronic rhinitis, Eczematoid dermatitis, Decreased circulating I... |
OMIM:256500 |
| Immunodeficiency 47 |
|
Elevated circulating hepatic transaminase concentration, Cholestasis, Prolonged neonatal jaundice... |
OMIM:300972 |
| Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Decreased specific antibody response to polysaccharide vaccine, Decreased specific anti-polysacch... |
ORPHA:70593 |
| Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
| Anemia, Sideroblastic, 1 |
|
Sideroblastic anemia, Anemia of inadequate production, Hypochromic microcytic anemia, Macrocytic ... |
OMIM:300751 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Respiratory insufficiency, Cachexia, Gait disturbance |
ORPHA:157973 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Severe varicella zoster infection, T lymphocytopenia, Recurrent sinusitis, Leukopenia, Lymphopeni... |
OMIM:618986 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Chronic oral candidiasis, Neutropenia, Lymphadenopathy, Recurrent aphthous stomatitis, B lymphocy... |
OMIM:150550 |
| Familial Reactive Perforating Collagenosis |
|
Maculopapular exanthema, Perifolliculitis, Inflammatory abnormality of the skin, Crusting erythem... |
ORPHA:79147 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Decreased liver function, Anemia, Increased mean corpuscular volume, Respiratory insufficiency, H... |
OMIM:617021 |
| Diamond-Blackfan Anemia 18 |
|
Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia |
OMIM:618310 |
| Alpha-Heavy Chain Disease |
|
Dysgammaglobulinemia, Hepatomegaly, Anemia, Lymphadenopathy, Hypocalcemia, Ascites, Splenomegaly |
ORPHA:100025 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased pr... |
OMIM:619846 |
| Leukocyte Adhesion Deficiency Type Ii |
|
Recurrent otitis media, Severe periodontitis, Anemia, Hepatomegaly, Small for gestational age, Re... |
ORPHA:99843 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Enlarged kidney, Hepatomegaly, Anemia, Macrovesicular hepatic steatosis, Recurrent bronchopulmona... |
OMIM:617303 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
| Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome |
|
Hypochromic microcytic anemia, Atopic dermatitis, Thrombocytopenia, Respiratory failure, Increase... |
ORPHA:3240 |
| Cinca Syndrome |
|
Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Arthritis, Skin r... |
OMIM:607115 |
| Iron-Refractory Iron Deficiency Anemia |
|
Poikilocytosis, Elevated circulating hepcidin concentration, Anisocytosis, Hypochromic microcytic... |
OMIM:206200 |
| Erythrocytosis, Familial, 1 |
|
Myocardial infarction, Increased red blood cell mass, Hypertension, Increased circulating hemoglo... |
OMIM:133100 |
| Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Tongue fasciculations, Hemiparesis, Ankle clonus, Respiratory failure, Tetraparesis |
OMIM:600561 |
| Congenital Toxoplasmosis |
|
Jaundice, Anemia, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Lymphade... |
ORPHA:858 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin |
ORPHA:3319 |
| Lymphoproliferative Syndrome 3 |
|
Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy |
OMIM:618261 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly, Weight loss |
ORPHA:86893 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Hyperbilirubinemia, Nonspherocy... |
OMIM:235700 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Combined Oxidative Phosphorylation Deficiency 53 |
|
Hepatomegaly, Hypochromic microcytic anemia, Elevated circulating C-reactive protein concentratio... |
OMIM:619423 |
| Mevalonic Aciduria |
|
Morbilliform rash, Fluctuating splenomegaly, Anemia, Lymphadenopathy, Elevated circulating hepati... |
OMIM:610377 |
| Refractory Anemia With Excess Blasts |
|
Abnormal bleeding, Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal c... |
ORPHA:86839 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hypertension, Thrombocytopenia |
OMIM:166990 |
| Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Respiratory insufficiency, Respiratory failure, Hypertonia |
OMIM:611722 |
| Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Perianal abscess, Defective T cell proliferation, Pancolitis, Increased circulating IgG level, In... |
OMIM:618213 |
| Thrombocytopenia 7 |
|
Post-partum hemorrhage, Impaired ADP-induced platelet aggregation, Reduced platelet alpha granule... |
OMIM:619130 |
| Generalized Pustular Psoriasis |
|
Congestive heart failure, Cheilitis, Elevated circulating hepatic transaminase concentration, Ele... |
ORPHA:247353 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Anemia, Failure to thrive, Thrombocytopenia, Splenomegaly |
OMIM:615085 |
| Pseudo-Torch Syndrome 3 |
|
Anemia, Respiratory insufficiency, Hypertension, Leukocytosis, Lymphadenitis, Cerebral hemorrhage... |
OMIM:618886 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Recurrent lower respiratory tract infections, Neutropenia in presenc... |
OMIM:615952 |
| Adenocarcinoma Of The Esophagus |
|
Obesity, Lymphadenopathy |
ORPHA:99976 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil... |
ORPHA:766 |
| Neutropenia, Severe Congenital, 10, Autosomal Recessive |
|
Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia |
OMIM:620534 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Chronic otitis media, Hepatomegaly, Lymphadenopathy, Recurrent viral infections, Thrombocytopenia... |
ORPHA:169090 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Splenomegaly, Eosinophilia... |
OMIM:607685 |
| Porphyria Cutanea Tarda |
|
Hepatic lobular inflammation, Increased circulating ferritin concentration, Elevated circulating ... |
ORPHA:101330 |
| Neonatal Alloimmune Neutropenia |
|
Jaundice, Antineutrophil antibody positivity, Neutropenia in presence of anti-neutropil antibodie... |
ORPHA:464370 |
| Dominant Beta-Thalassemia |
|
Cirrhosis, Jaundice, Hypochromic microcytic anemia, Abnormality of iron homeostasis, Decreased me... |
ORPHA:231226 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Platelet anisocytosis, Abnormal bleeding, Giant platelets, Anemia, Impaired platelet aggregation,... |
OMIM:187800 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Elevated circulating alkaline phosph... |
OMIM:613812 |
| Erythroderma Desquamativum |
|
Failure to thrive, Seborrheic dermatitis |
ORPHA:314 |
| Acute Promyelocytic Leukemia |
|
Abnormal bleeding, Purpura, Anemia, Lymphadenopathy, Pancytopenia, Petechiae, Stomatitis, Gingiva... |
ORPHA:520 |
| Immunodeficiency 59 And Hypoglycemia |
|
Hepatomegaly, Recurrent lower respiratory tract infections, Recurrent aphthous stomatitis, Decrea... |
OMIM:233600 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Cachexia, Slender build, Ataxia, Weight loss |
OMIM:613662 |
| Immune Thrombocytopenia |
|
Purpura, Gastrointestinal hemorrhage, Petechiae, Gingival bleeding, Thrombocytopenia, Epistaxis, ... |
ORPHA:3002 |
| Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly |
OMIM:619813 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Abnor... |
ORPHA:79301 |
| Insulin-Resistance Syndrome Type B |
|
Abnormal circulating lipid concentration, Hypotriglyceridemia, Skin rash, Increased body weight, ... |
ORPHA:2298 |
| Pulmonary Blastoma |
|
Recurrent pneumonia, Weight loss |
ORPHA:64741 |
| Letterer-Siwe Disease |
|
Jaundice, Anemia, Stomatitis, Seborrheic dermatitis, Thrombocytopenia, Hepatosplenomegaly, Neutro... |
OMIM:246400 |
| Peeling Skin Syndrome 1 |
|
Erythroderma, Increased circulating IgE level, Pruritus |
OMIM:270300 |
| Immune Deficiency, Familial Variable |
|
Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:146830 |
| Peripartum Cardiomyopathy |
|
Hypertension, Sinus tachycardia, Heart murmur, Left ventricular hypertrophy, Myocarditis, Elevate... |
ORPHA:563 |
| Listeriosis |
|
Pericarditis, Pustule, Unusual CNS infection, Cholecystitis, Granulomatosis, Myocarditis, Jaundic... |
ORPHA:533 |
| Aicardi-Goutieres Syndrome 4 |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pancytopenia, Respiratory ... |
OMIM:610333 |
| Simple Cryoglobulinemia |
|
Monoclonal elevation of IgG, Chronic lymphatic leukemia, Arthritis, Monoclonal elevation of circu... |
ORPHA:91139 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Cachexia, Failure to thrive, Weight loss, Gait ataxia |
OMIM:612075 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Anemia, Pancytopenia, Respiratory insufficiency, Hyperuricemia, Pulmonary arterial hypertension, ... |
OMIM:613845 |
| Bleeding Disorder, Platelet-Type, 25 |
|
Excessive bleeding from superficial cuts, Post-partum hemorrhage, Spontaneous, recurrent epistaxi... |
OMIM:620486 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:300448 |
| Intrinsic Factor Deficiency |
|
Reduced haptoglobin level, Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic... |
OMIM:261000 |
| Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Fasciculations, Respiratory failure, Tongue fasciculations, Loss of ambulation |
OMIM:613435 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Hypochromic... |
ORPHA:67044 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Recurrent infections, Crohn's disease, ... |
OMIM:618935 |
| Rosaï-Dorfman Disease |
|
Anemia, Lymphadenopathy, Paresthesia |
ORPHA:158014 |
| T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Hypertriglyceridemia, Anemia, Hemophagocytosis, Panniculitis, Pancytopenia, Splenomegaly, Autoimm... |
OMIM:618398 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Respiratory insufficiency, Large for gestational age, Hepatomegaly |
ORPHA:2432 |
| Bleeding Disorder, Platelet-Type, 22 |
|
Gastrointestinal hemorrhage, Excessive bleeding from superficial cuts, Impaired ADP-induced plate... |
OMIM:618462 |
| Beta-Thalassemia Major |
|
Anemia of inadequate production, Splenomegaly, Decreased mean corpuscular volume, High-output con... |
ORPHA:231214 |
| Folate Malabsorption, Hereditary |
|
Folate-responsive megaloblastic anemia, Recurrent infections, Failure to thrive, Thrombocytopenia... |
OMIM:229050 |
| Primary Sclerosing Cholangitis |
|
Elevated circulating hepatic transaminase concentration, Cholestasis, Ascites, Acute hepatic fail... |
ORPHA:171 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Pneumonia, T lymphocytopenia, Sinusitis, Failure to thrive, Increased circulating IgM level, Bron... |
OMIM:242860 |
| Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Respiratory insufficiency, Abnormality of extrapyramidal motor function, Ataxia, Ab... |
OMIM:618224 |
| Fetal Parvovirus Syndrome |
|
Thrombocytopenia, Anemia, Ascites, Hypertrophic cardiomyopathy |
ORPHA:295 |
| Huntington Disease-Like 2 |
|
Chorea, Gait disturbance, Involuntary movements, Parkinsonism, Weight loss |
ORPHA:98934 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Failure to thrive, Microcytic anemia, Bruising susceptibility |
ORPHA:98791 |
| Bone Marrow Failure Syndrome 2 |
|
Bone marrow hypocellularity, Thrombocytopenia, Anemia, Leukopenia |
OMIM:615715 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia, Anemia, Hemophagocytosis, Reduced natural killer cell activity, Hepatosplen... |
OMIM:608898 |
| Chronic Actinic Dermatitis |
|
Late onset atopic dermatitis, Allergic rhinitis, Eczematoid dermatitis, Erythroderma, Pruritus |
ORPHA:330064 |
| Immunodeficiency 40 |
|
Chronic oral candidiasis, Recurrent otitis media, Macrovesicular hepatic steatosis, Hepatomegaly,... |
OMIM:616433 |
| Idiopathic Achalasia |
|
Decreased circulating prealbumin concentration, Recurrent aspiration pneumonia, Weight loss |
ORPHA:930 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypertrophic cardiomyopath... |
OMIM:613561 |
| Familial Cold Autoinflammatory Syndrome 2 |
|
Lymphadenopathy, Elevated circulating C-reactive protein concentration, Recurrent aphthous stomat... |
OMIM:611762 |
| Overhydrated Hereditary Stomatocytosis |
|
Jaundice, Hepatomegaly, Increased mean corpuscular volume, Hyperbilirubinemia, Reticulocytosis, P... |
OMIM:185000 |
| Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
| Vexas Syndrome |
|
Nasal chondritis, Arteritis, Elevated circulating C-reactive protein concentration, Macrocytic an... |
OMIM:301054 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Liver abscess, Abnormal lymph node morphology, Anemia, Elevated circulating hepatic transaminase ... |
ORPHA:54251 |
| Heme Oxygenase 1 Deficiency |
|
Increased circulating ferritin concentration, Hepatomegaly, Increased circulating interleukin 6 c... |
OMIM:614034 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Chronic hemolytic anemia, Hepatomegaly, Recurrent infections, Microvesicular hepatic steatosis, R... |
OMIM:618278 |
| Congenital Disorder Of Glycosylation, Type In |
|
Hepatomegaly, Respiratory insufficiency, Spasticity, Failure to thrive, Ataxia, Myoclonus |
OMIM:612015 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normochromic anemia, Splenomegaly, Abnormal mast cell morphology, Normocytic anemia, Acute myeloi... |
ORPHA:98849 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Recurrent abscess formation, Crohn's disease, Skin rash, T lymphocytopenia, Splenomegaly, Decreas... |
OMIM:619381 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Sinusitis, Lymph node hypoplasia, Splenomegaly, Increased circulating guanosine concentration, Ly... |
OMIM:613179 |
| Myasthenia Gravis |
|
Myositis, Anti-muscle-specific tyrosine kinase antibody, Rheumatoid arthritis, Pure red cell apla... |
ORPHA:589 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Skin rash, T lymphocytopenia, Pustule... |
ORPHA:35078 |
| Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Recurrent bronchopulmonary infections, Neutropenia |
OMIM:610798 |
| Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Methylmalonic acidemia, Elevated circulating creatine kinase concentration, Failure to thrive, Re... |
OMIM:612073 |
| Neuromyelitis Optica Spectrum Disorder |
|
Myelitis, Paraplegia, Optic neuritis, Respiratory failure, Somatic sensory dysfunction |
ORPHA:71211 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Petechiae, Hepatocellular ... |
OMIM:619463 |
| Ataxia-Pancytopenia Syndrome |
|
Anemia, Pancytopenia, Thrombocytopenia, Acute myelomonocytic leukemia, Hypoplastic anemia, Neutro... |
OMIM:159550 |
| Subcorneal Pustular Dermatosis |
|
Increased circulating antibody level, Rheumatoid arthritis, Pustule, Systemic lupus erythematosus... |
ORPHA:48377 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
BCGitis, Pneumonia, Hepatomegaly, Panhypogammaglobulinemia, Aplasia of the thymus, B lymphocytope... |
OMIM:602450 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Cirrhosis, Intrahepatic cholestasis, Giant cell hepatitis, Jaundice, Hepatomegaly, Elevated circu... |
OMIM:607765 |
| Whim Syndrome 1 |
|
Decreased circulating antibody level, Decreased circulating IgG level, Recurrent upper respirator... |
OMIM:193670 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatic steatosis, Cirrhosis, Hepatomegaly, Spasticity, Tremor, Poor motor coordination, Gait ata... |
ORPHA:363400 |
| Pediatric Systemic Lupus Erythematosus |
|
Decreased circulating complement C3 concentration, Systemic lupus erythematosus, Lupus anticoagul... |
ORPHA:93552 |
| Ebola Hemorrhagic Fever |
|
Increased circulating antibody level, Acute pancreatitis, Thrombocytopenia, Leukopenia, Lymphopen... |
ORPHA:319218 |
| Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent otitis media, Failure to thrive, Recurrent respiratory infections, Recurrent bacterial ... |
OMIM:616022 |
| Pulmonary Hemosiderosis |
|
Respiratory insufficiency, Recurrent intrapulmonary hemorrhage, Iron deficiency anemia |
OMIM:178550 |
| Beta-Thalassemia Intermedia |
|
Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Abnormality of iron homeostasis, Cho... |
ORPHA:231222 |
| Immunodeficiency 70 |
|
Decreased circulating total IgG, B lymphocytopenia, Decreased circulating antibody level, Furuncl... |
OMIM:618969 |
| Acatalasemia |
|
Severe periodontitis, Gingival bleeding, Microcytic anemia |
ORPHA:926 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Cirrhosis, Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentratio... |
OMIM:616860 |
| Malaria |
|
Hyperbilirubinemia, Thrombocytopenia, Anemia, Elevated circulating C-reactive protein concentration |
ORPHA:673 |
| Polycythemia Vera |
|
Acute leukemia, Pulmonary embolism, Gastrointestinal hemorrhage, Hepatomegaly, Respiratory insuff... |
ORPHA:729 |
| Imerslund-Gräsbeck Syndrome |
|
Anisopoikilocytosis, Abnormal bleeding, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Ab... |
ORPHA:35858 |
| Reticular Dysgenesis |
|
Congenital agranulocytosis, Leukopenia, Hypoplasia of the thymus, Lymphopenia |
OMIM:267500 |
| Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Petechiae, Anemia of inadequate production, Poikilocytosis, Epistaxis, Persistent bleeding after ... |
OMIM:300367 |
| Graft Versus Host Disease |
|
Elevated circulating hepatic transaminase concentration, Inflammatory abnormality of the eye, Jau... |
ORPHA:39812 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Elevated circulating C-reactive protein concentration, Increased circulating IgE level, Leukocyto... |
ORPHA:2902 |
| Fanconi Anemia, Complementation Group G |
|
Thrombocytopenia, Anemia, Leukemia, Neutropenia |
OMIM:614082 |
| Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased liver function, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase conce... |
OMIM:301045 |
| Primary Intestinal Lymphangiectasia |
|
Peritoneal effusion, Intestinal lymphangiectasia, Anemia, Decreased proportion of CD3-positive T ... |
ORPHA:90362 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
| Transcobalamin Ii Deficiency |
|
Hepatomegaly, Anemia, Erythroid hypoplasia, Macrocytic anemia, Pancytopenia, Hyperhomocystinemia,... |
OMIM:275350 |
| Infantile Liver Failure Syndrome 1 |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anemia, Macrocytic anemia,... |
OMIM:615438 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating alanine am... |
OMIM:614727 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia |
OMIM:252270 |
| Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia |
|
Microcytic anemia, Hypochromic anemia |
OMIM:618451 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Giant cell hepatitis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentra... |
ORPHA:79303 |
| Igg4-Related Kidney Disease |
|
Decreased liver function, Enlarged kidney, Sclerosing cholangitis, Pericarditis, Increased circul... |
ORPHA:449395 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Decreased circulating total IgM, Chronic mucocutaneous candidiasis, Increased circulating IgE lev... |
OMIM:619752 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Jaundice, Hepatomegaly, Increased serum bile acid concentration, Hyperbilirubinemia, Cholestasis,... |
OMIM:620010 |
| Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
| Slc35A1-Cdg |
|
Abnormal bleeding, Giant platelets, Abnormal platelet granules, Subcutaneous hemorrhage, Thromboc... |
ORPHA:238459 |
| Microsporidiosis |
|
Cachexia, Sinusitis, Biliary tract abnormality, Myocarditis, Cholangitis, Thyroiditis, Bronchioli... |
ORPHA:2552 |
| Rh Deficiency Syndrome |
|
Jaundice, Reduced haptoglobin level, Macrocytic anemia, Hyperbilirubinemia, Hypochromia, Spherocy... |
ORPHA:71275 |
| Sandhoff Disease |
|
Failure to thrive, Hepatomegaly, Ataxia, Splenomegaly |
ORPHA:796 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Increased circulating IgA level, Molluscum contagiosum, Abnormal circulatin... |
OMIM:300291 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Increased total iron binding capacity, Anemia, Elevated circulating hepatic transaminase concentr... |
ORPHA:98870 |
| Idiopathic Hypereosinophilic Syndrome |
|
Elevated circulating hepatic transaminase concentration, Portal fibrosis, Splenomegaly, Cholangit... |
ORPHA:3260 |
| Copper Deficiency, Familial Benign |
|
Seborrheic dermatitis, Failure to thrive, Anemia, Decreased circulating copper concentration |
OMIM:121270 |
| Cronkhite-Canada Syndrome |
|
Cachexia, Hepatomegaly, Anemia, Splenomegaly |
ORPHA:2930 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated circulating hepatic trans... |
OMIM:256040 |
| Follicular Lymphoma |
|
Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology, Splenomegaly, Weigh... |
ORPHA:545 |
| Ménétrier Disease |
|
Gastrointestinal hemorrhage, Hypochromic microcytic anemia, Giant hypertrophic gastritis, Hypopro... |
ORPHA:2494 |
| Reynolds Syndrome |
|
Cirrhosis, Jaundice, Keratoconjunctivitis sicca, Hepatomegaly, Respiratory insufficiency, Arthrit... |
ORPHA:779 |
| Triosephosphate Isomerase Deficiency |
|
Congestive heart failure, Normocytic anemia, Chronic hemolytic anemia, Jaundice, Normochromic ane... |
OMIM:615512 |
| Immunodeficiency 84 |
|
Perianal abscess, Persistent EBV viremia, B lymphocytopenia, Splenomegaly, Recurrent bacterial in... |
OMIM:619437 |
| Indolent Systemic Mastocytosis |
|
Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Skin rash, Elevated tota... |
ORPHA:98848 |
| Transaldolase Deficiency |
|
Cirrhosis, Anemia, Abnormal circulating glutamine concentration, Increased serum bile acid concen... |
ORPHA:101028 |
| Riboflavin Transporter Deficiency |
|
Respiratory insufficiency, Cachexia, Tremor, Ataxia, Myoclonus |
ORPHA:97229 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Respiratory insufficiency, Respiratory failure, Inability to walk |
ORPHA:266 |
| Protoporphyria, Erythropoietic, 2 |
|
Increased erythrocyte protoporphyrin concentration, Iron deficiency anemia |
OMIM:618015 |
| Giant platelet syndrome with thrombocytopenia |
|
Gastrointestinal hemorrhage, Giant platelets, Thrombocytopenia, Bruising susceptibility, Prolonge... |
OMIM:137560 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope... |
ORPHA:231154 |
| Vitamin B12-Responsive Methylmalonic Acidemia |
|
Hepatomegaly, Anemia, Respiratory insufficiency, Failure to thrive, Hyperammonemia |
ORPHA:28 |
| Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Decreased methionine synthase activity, Jaundice, Hyperhomocystinemia, Megaloblastic anemia, Fail... |
OMIM:250940 |
| Kimura Disease |
|
Follicular hyperplasia, Eosinophilia, Lymphadenopathy |
ORPHA:482 |
| Srd5A3-Cdg |
|
Elevated circulating hepatic transaminase concentration, Microcytic anemia |
ORPHA:324737 |
| Complement Component 4B Deficiency |
|
Recurrent otitis media, Chronic active hepatitis, Recurrent sinusitis, Recurrent pneumonia, Decre... |
OMIM:614379 |
| Immunodeficiency 67 |
|
Liver abscess, Abnormal natural killer cell count, Increased circulating IgE level, Complete or n... |
OMIM:607676 |
| Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Chronic oral candidiasis, Recurrent otitis media, Sterile abscess, Recurrent infections, Chronic ... |
OMIM:618282 |
| Amegakaryocytic Thrombocytopenia, Congenital, 1 |
|
Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia |
OMIM:604498 |
| Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Respiratory insufficiency, Decreased circulating antibody level, Intraalveolar phospholipid accum... |
OMIM:618042 |
| Acquired Partial Lipodystrophy |
|
Lymphocytosis, Autoimmunity, Hepatic steatosis, Decreased circulating complement C3 concentration |
ORPHA:79087 |
| Systemic-Onset Juvenile Idiopathic Arthritis |
|
Hepatomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Arthritis, ... |
ORPHA:85414 |
| Hypertriglyceridemia, Transient Infantile |
|
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Fail... |
OMIM:614480 |
| Immunodeficiency 15B |
|
Chronic oral candidiasis, Recurrent infections, Decreased circulating antibody level, Failure to ... |
OMIM:615592 |
| Developmental And Epileptic Encephalopathy 71 |
|
Respiratory insufficiency, Respiratory failure |
OMIM:618328 |
| Angiostrongyliasis |
|
Increased circulating IgG level, Increased circulating IgA level, Increased circulating IgM level... |
ORPHA:74 |
| Renal Hypodysplasia/Aplasia 4 |
|
Respiratory failure |
OMIM:619887 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Hepatitis Delta |
|
Cirrhosis, Jaundice, Fulminant hepatitis, Hepatocellular carcinoma, Elevated circulating alanine ... |
ORPHA:402823 |
| Barth Syndrome |
|
Congestive heart failure, Hypochromic microcytic anemia, Tricuspid regurgitation, Hypertrophic ca... |
OMIM:302060 |
| Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Microcytic anemia, Highly eleva... |
OMIM:251900 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Anemia, Hypochromic microcytic anemia, Pancytopenia, Hypocalcemia, Hyperbilirubinem... |
OMIM:259720 |
| Eosinophilic Gastroenteritis |
|
Anemia, Elevated circulating C-reactive protein concentration, Ascites, Leukocytosis, Atopic derm... |
ORPHA:2070 |
| Catastrophic Antiphospholipid Syndrome |
|
Abnormal circulating cytokine concentration, Myocarditis, Pulmonary embolism, Myocardial infarcti... |
ORPHA:464343 |
| Pelizaeus-Merzbacher Disease |
|
Respiratory insufficiency, Cachexia, Spasticity, Gait disturbance, Ataxia, Failure to thrive in i... |
ORPHA:702 |
| Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Impaired Ig class switch recombination, Recurrent infection of the g... |
OMIM:608184 |
| Galactose Epimerase Deficiency |
|
Jaundice, Splenomegaly, Weight loss, Hepatomegaly |
ORPHA:79238 |
| Crigler-Najjar Syndrome |
|
Abnormality of the liver, Jaundice, Infectious encephalitis |
ORPHA:205 |
| Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis |
OMIM:118830 |
| Tafro Syndrome |
|
Hepatomegaly, Anemia, Lymphadenopathy, Increased circulating interleukin 6 concentration, Elevate... |
ORPHA:457077 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Impaired platelet aggregation, Post-partum hemorrhage, Menorrhagia, Thrombocytopenia, Macrothromb... |
OMIM:124900 |
| Immunodeficiency 81 |
|
Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Recurrent inf... |
OMIM:619374 |
| Relapsing Fever |
|
Prolonged prothrombin time, Abnormal bleeding, Jaundice, Anemia, Elevated circulating hepatic tra... |
ORPHA:91547 |
| Atelis Syndrome 1 |
|
Anemia, Recurrent infections, Eczematoid dermatitis, Thrombocytopenia, Leukopenia, Bronchiectasis... |
OMIM:620184 |
| Snakebite Envenomation |
|
Abnormal bleeding, Gingival bleeding, Cerebral ischemia, Hypotension, Hyponatremia, Cardiogenic s... |
ORPHA:449285 |
| Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Respiratory failure, Hepatomegaly, Hyperammonemia, Infectious encephalitis |
ORPHA:1194 |
| Thrombocytopenia 9 |
|
Abnormal bleeding, Thrombocytopenia, Abnormal platelet aggregation |
OMIM:620478 |
| Congenital Myopathy 10A, Severe Variant |
|
Respiratory insufficiency, Tongue fasciculations, Diaphragmatic paralysis, Failure to thrive, Res... |
OMIM:614399 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Respiratory insufficiency, Cachexia, Abnormal mesentery morphology, Abnormality of the spleen |
ORPHA:93941 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Thrombocytopenia, Chronic neutropenia, Anemia |
OMIM:619302 |
| Isolated Sedoheptulokinase Deficiency |
|
Cholestatic liver disease, Hypochromic microcytic anemia, Anemia, Neonatal asphyxia, Cholestasis,... |
ORPHA:440713 |
| Gaucher Disease Type 1 |
|
Decreased HDL cholesterol concentration, Increased circulating antibody level, Ascites, Leukopeni... |
ORPHA:77259 |
| Unclassified Myelodysplastic Syndrome |
|
Acute myeloid leukemia, Leukocytosis, Bone marrow hypocellularity, Autoimmunity, Abnormal circula... |
ORPHA:98827 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Increased circulating IgE level, Eosinophilic infiltration of the esophagus, Failure to thrive, H... |
OMIM:615508 |
| Inflammatory Pseudotumor Of The Liver |
|
Cirrhosis, Increased hepatitis B virus antibody level, Abnormal liver sonography, Elevated circul... |
ORPHA:90003 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Intermittent jaundice, Splenomegaly, Reticulocytosis |
OMIM:179700 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Anemia, Thrombocytopenia, Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia |
OMIM:616738 |
| Platelet Signal Processing Defect |
|
Abnormal bleeding, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platel... |
OMIM:173590 |
| Primary Sjögren Syndrome |
|
Increased circulating antibody level, Normochromic anemia, Optic neuritis, Biliary cirrhosis, Leu... |
ORPHA:289390 |
| Gaucher Disease, Type Iii |
|
Hepatomegaly, Pancytopenia, Decreased body weight, Decreased beta-glucocerebrosidase level, Throm... |
OMIM:231000 |
| Forsythe-Wakeling Syndrome |
|
Decreased body weight, Thrombocytopenia |
OMIM:613606 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Cirrhosis, Elevated circulating hepatic transaminase concentration, Anemia, Macrovesicular hepati... |
ORPHA:298 |
| H Syndrome |
|
Hypertriglyceridemia, Enlarged kidney, Lymphadenopathy, Abnormal cardiovascular system physiology... |
ORPHA:168569 |
| Aicardi-Goutieres Syndrome 7 |
|
Increased circulating ferritin concentration, Hepatomegaly, Anemia, Recurrent lower respiratory t... |
OMIM:615846 |
| Spherocytosis, Type 5 |
|
Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia... |
OMIM:612690 |
| Kikuchi-Fujimoto Disease |
|
Elevated circulating hepatic transaminase concentration, Lymphocytosis, Skin rash, Increased circ... |
ORPHA:50918 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Increased circulating IgA level, Thrombocytopenia, Glomerulonephritis |
OMIM:314000 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
Chronic otitis media, Recurrent candida infections, B lymphocytopenia, Increased circulating IgE ... |
ORPHA:217390 |
| Pityriasis Rubra Pilaris |
|
Erythroderma, Pustule, Pruritus, Eczematoid dermatitis |
ORPHA:2897 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Poikilocytosis, Anisocytosis, Anemia of inadequate production, Oval macrocytosis |
OMIM:603529 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
B lymphocytopenia, Recurrent respiratory infections, Decreased circulating IgG level, T lymphocyt... |
OMIM:233650 |
| Cyclic Neutropenia |
|
Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Periodontitis, Lymphopenia, Tooth absce... |
ORPHA:2686 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Impaired ristocetin-induced platelet aggregation, Petechiae, Gingival bleeding, Impaired ADP-indu... |
OMIM:153670 |
| Pontocerebellar Hypoplasia, Type 4 |
|
Respiratory failure, Hypertonia, Spasticity, Myoclonus |
OMIM:225753 |
| Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
| Immunodeficiency 43 |
|
Lung abscess, Abnormal circulating IgM level, B lymphocytopenia, Hypoproteinemia, Decreased circu... |
OMIM:241600 |
| Felty Syndrome |
|
Rheumatoid arthritis, Splenomegaly, Neutropenia |
OMIM:134750 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
Decreased circulating total IgM, Panniculitis, B lymphocytopenia, Optic neuritis, Decreased circu... |
OMIM:301081 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Hepatomegaly, Anemia, Petechiae, Reticulocytosis, Thrombocytopenia, Splenomegaly |
OMIM:611490 |
| Immunodeficiency 58 |
|
Chronic otitis media, Recurrent aphthous stomatitis, Seborrheic dermatitis, Chronic mucocutaneous... |
OMIM:618131 |
| Good Syndrome |
|
Anemia, Mediastinal lymphadenopathy, Recurrent urinary tract infections, Abnormal leukocyte morph... |
ORPHA:169105 |
| Immunodeficiency 9 |
|
BCGitis, Recurrent aphthous stomatitis, Abnormal natural killer cell count, Recurrent infections,... |
OMIM:612782 |
| C1Q Deficiency 1 |
|
Membranoproliferative glomerulonephritis, Autoimmunity, Decreased circulating complement factor I... |
OMIM:613652 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Macrocytic anemia, Increased serum pyruvate, Hyperalaninemia, Cardiomyopathy, Failure to thrive, ... |
OMIM:619046 |
| Immunodeficiency 15A |
|
Recurrent otitis media, Decreased proportion of CD8-positive T cells, Chronic mucocutaneous candi... |
OMIM:618204 |
| Bleeding Disorder, Platelet-Type, 20 |
|
Bruising susceptibility, Menorrhagia, Thrombocytopenia, Epistaxis |
OMIM:616913 |
| Von Willebrand Disease, Type 2 |
|
Bruising susceptibility, Menorrhagia, Thrombocytopenia, Epistaxis |
OMIM:613554 |
| Glutamate Formiminotransferase Deficiency |
|
Megaloblastic anemia, Hypersegmentation of neutrophil nuclei, Positive ferric chloride test |
OMIM:229100 |
| Autosomal Dominant Epidermolytic Ichthyosis |
|
Erythroderma, Weight loss |
ORPHA:312 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Hypochromic microcytic anemia, B lymphocytopenia, Decreased circulating antibody level, Siderobla... |
OMIM:616084 |
| Ichthyosis Prematurity Syndrome |
|
Erythroderma, Neonatal asphyxia, Pruritus, Allergic rhinitis |
OMIM:608649 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Difficulty walking, Respiratory insufficiency, Ventilator dependence with inability to wean, Fail... |
ORPHA:254875 |
| Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology |
DECIPHER:31 |
| Immunodeficiency 42 |
|
Chronic oral candidiasis, Hepatomegaly, Recurrent aphthous stomatitis, Splenomegaly, Recurrent cu... |
OMIM:616622 |
| Diamond-Blackfan Anemia 8 |
|
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia |
OMIM:612563 |
| Platelet Glycoprotein Iv Deficiency |
|
Prolonged bleeding time, Thrombocytopenia, Giant platelets, Abnormal bleeding |
OMIM:608404 |
| Diencephalic Syndrome |
|
Cachexia, Decreased body weight |
ORPHA:1672 |
| Glut1 Deficiency Syndrome 2 |
|
Reticulocytosis, Ataxia, Splenomegaly, Choreoathetosis, Hemolytic anemia |
OMIM:612126 |
| Thymoma |
|
Aplastic anemia, Myositis, Abnormal lymphocyte physiology, Abnormal lymphocyte proliferation, Dec... |
ORPHA:99867 |
| Overhydrated Hereditary Stomatocytosis |
|
Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno... |
ORPHA:3203 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Pancreatitis, Anemia, Hyperammonemia, Thrombocytopenia, Neutropenia |
ORPHA:289916 |
| Bone Marrow Failure Syndrome 6 |
|
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Bone marrow hypocellulari... |
OMIM:618849 |
| Lysosomal Acid Lipase Deficiency |
|
Decreased liver function, Hypertriglyceridemia, Elevated circulating hepatic transaminase concent... |
ORPHA:275761 |
| Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Elevated circulating hepatic transaminase concentration, Portal hypertension, Abnormality of the ... |
ORPHA:210136 |
| Multiple Symmetric Lipomatosis |
|
Hepatomegaly, Gait disturbance, Paresthesia |
ORPHA:2398 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Recurrent otitis media, Impaired lymphocyte transformation with phytohemagglutinin, Recurrent low... |
OMIM:600802 |
| Tempi Syndrome |
|
Increased circulating IgG level, Polycythemia, Ascites, Increased hematocrit |
ORPHA:284227 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Lymphadenopathy, Myositis, Thyroiditis, Increased circulating IgA level, Tubulointerstitial nephr... |
ORPHA:79078 |
| Eosinophilopenia |
|
Autoimmunity, Allergic rhinitis, Decreased eosinophil count |
OMIM:131430 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Increased circulating IgG level, Leukocytosis, Severe infection |
ORPHA:206594 |
| Specific Granule Deficiency 1 |
|
Recurrent otitis media, Abnormal neutrophil count, Low neutrophil alkaline phosphatase, Hyposegme... |
OMIM:245480 |
| Spondyloenchondrodysplasia |
|
Autoimmune hemolytic anemia, Juvenile rheumatoid arthritis, Pancytopenia, Anti-dsDNA antibody pos... |
ORPHA:1855 |
| Spinal Muscular Atrophy, Segmental |
|
Abnormal anterior horn cell morphology |
OMIM:183020 |
| Sitosterolemia 1 |
|
Abnormal bleeding, Chronic hemolytic anemia, Giant platelets, Anemia, Reduced haptoglobin level, ... |
OMIM:210250 |
| Immunodeficiency 31C |
|
Autoimmune hemolytic anemia, Chronic oral candidiasis, Hepatomegaly, Impaired lymphocyte transfor... |
OMIM:614162 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hepatomegaly, Spasticity, Tremor, Ataxia, Myoclonus, Abnormal pyramidal sign, Tetraparesis |
OMIM:615924 |
| Cold Agglutinin Disease |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly, Autoimmunity, Hemolytic anemia |
ORPHA:56425 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Jaundice, Hepatomegaly, Pancytopenia, Increased mean corpuscular volume, Megaloblastic anemia, In... |
OMIM:613839 |
| Immunoglobulin A Deficiency 1 |
|
Autoimmunity, Decreased circulating IgA level |
OMIM:137100 |
| Postinfectious Vasculitis |
|
Recurrent Staphylococcus aureus infections, Increased circulating antibody level, Abnormal circul... |
ORPHA:48435 |
| Immunodeficiency 56 |
|
Cirrhosis, Recurrent otitis media, Cholangitis, Recurrent respiratory infections, Panhypogammaglo... |
OMIM:615207 |
| Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating total IgM, Decreased proportion of CD8-positive T cells, Abnormality of the... |
OMIM:611926 |
| Cyanosis, Transient Neonatal |
|
Hepatomegaly, Jaundice, Anemia, Reticulocytosis, Methemoglobinemia |
OMIM:613977 |
| Coccidioidomycosis |
|
Skin rash, Granuloma, Pericarditis, Unusual CNS infection, Erythema nodosum, Morbilliform rash, C... |
ORPHA:228123 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Decreased liver function, Inability to walk, Chorea, Spasticity, Failure to thrive, Ataxia, Respi... |
ORPHA:70472 |
| Acute Monoblastic/Monocytic Leukemia |
|
Cervical lymphadenopathy, Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Weight l... |
ORPHA:514 |
| Erythema Elevatum Diutinum |
|
Skin rash, Increased circulating antibody level |
ORPHA:90000 |
| New-Onset Refractory Status Epilepticus |
|
Autoimmunity, Abnormal circulating interleukin concentration, Infectious encephalitis |
ORPHA:363558 |
| Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Macrocytic anemia, Hyperuricemia, Hashimoto thyroiditis, Failure to thrive, Hy... |
ORPHA:199299 |
| Chronic Myeloid Leukemia |
|
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... |
ORPHA:521 |
| Hereditary Folate Malabsorption |
|
Cheilitis, Pancytopenia, Recurrent urinary tract infections, Megaloblastic anemia, Decreased circ... |
ORPHA:90045 |
| Roch-Leri Mesosomatous Lipomatosis |
|
Purpura, Thrombocytopenia |
ORPHA:529 |
| Melioidosis |
|
Lung abscess, Unusual skin infection, Pneumonia, Liver abscess, Prostatitis, Acute infectious pne... |
ORPHA:31202 |
| Preeclampsia |
|
Elevated circulating hepatic transaminase concentration, Abnormality of the hepatic vasculature, ... |
ORPHA:275555 |
| Alpha-Thalassemia |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:604131 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Essential Thrombocythemia |
|
Acute leukemia, Abnormal bleeding, Transient ischemic attack, Leukocytosis, Abnormality of thromb... |
ORPHA:3318 |
| Cholestasis-Lymphedema Syndrome |
|
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyper... |
OMIM:214900 |
| Alpha-1-Antitrypsin Deficiency |
|
Cirrhosis, Jaundice, Panniculitis, Hepatomegaly, Hepatocellular carcinoma, Cholestasis, Perinucle... |
ORPHA:60 |
| Spinocerebellar Ataxia Type 1 |
|
Bradykinesia, Impaired proprioception, Progressive cerebellar ataxia, Gait imbalance, Fasciculati... |
ORPHA:98755 |
| Hemochromatosis, Type 3 |
|
Cirrhosis, Purpura, Elevated circulating hepatic transaminase concentration, Anemia, Arthritis, C... |
OMIM:604250 |
| Idiopathic Aplastic Anemia |
|
Anemia, Pancytopenia, Reticulocytopenia, Gingival bleeding, Retinal hemorrhage, Bone marrow hypoc... |
ORPHA:88 |
| Pediatric-Onset Graves Disease |
|
Congestive heart failure, Jaundice, Elevated circulating hepatic transaminase concentration, Hepa... |
ORPHA:525731 |
| Amegakaryocytic Thrombocytopenia, Congenital, 2 |
|
Aplastic anemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Elevated ci... |
OMIM:620481 |
| Nephrotic Syndrome, Type 7 |
|
Membranoproliferative glomerulonephritis, Hypoalbuminemia, Thrombocytopenia, Hemolytic anemia |
OMIM:615008 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Anemia, Iron deficiency anemia, Recurrent lower respiratory tract infections, Intes... |
OMIM:226300 |
| Moynahan Syndrome |
|
Cachexia |
ORPHA:2574 |
| Galactosemia Iii |
|
Jaundice, Hepatomegaly, Hypergalactosemia, Failure to thrive, Splenomegaly, Decreased beta-galact... |
OMIM:230350 |
| Bullous Pemphigoid |
|
Anti-BP230 antibody positivity, Eczematoid dermatitis, Anti-BP180 antibody positivity, Weight los... |
ORPHA:703 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Platelet anisocytosis, Abnormal bleeding, Impaired epinephrine-induced platelet aggregation, Impa... |
OMIM:619271 |
| Propionic Acidemia |
|
Cerebellar hemorrhage, Hepatomegaly, Anemia, Pancreatitis, Pancytopenia, Cardiomyopathy, Eczemato... |
OMIM:606054 |
| Multiple Myeloma |
|
Anemia, Lymphadenopathy, Increased circulating IgG level, Increased circulating IgA level, Decrea... |
ORPHA:29073 |
| Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent sinusitis, Lymphopenia, Rec... |
OMIM:301000 |
| Cystic Echinococcosis |
|
Cholestatic liver disease, Jaundice, Abnormality of the pancreas, Hepatomegaly, Increased circula... |
ORPHA:400 |
| Juvenile Huntington Disease |
|
Bradykinesia, Progressive cerebellar ataxia, Broad-based gait, Chorea, Gait ataxia, Rigidity, Ata... |
ORPHA:248111 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Recurrent candida infections, Recurrent infections, B lymphocytopenia, Decreased circulating anti... |
OMIM:614069 |
| Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Megaloblastic anemia, Thrombocytopenia, Neutropenia |
OMIM:598500 |
| Tropical Endomyocardial Fibrosis |
|
P pulmonale, Abnormal ST segment, Cachexia, Ascites, Splenomegaly, Prolonged QRS complex, Cardiom... |
ORPHA:75565 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Abnormal bleeding, Impaired platelet aggregation, Impaired ADP-induced platelet aggregation, Ecze... |
OMIM:617443 |
| Cinca Syndrome |
|
Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Inf... |
ORPHA:1451 |
| Glycogen Storage Disease Xii |
|
Normocytic anemia, Jaundice, Anemia, Decreased erythrocyte fructose-1,6-bisphosphate aldolase act... |
OMIM:611881 |
| Shwachman-Diamond Syndrome |
|
Aplastic anemia, Elevated circulating hepatic transaminase concentration, Macrocytic anemia, Skin... |
ORPHA:811 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Normochromic anemia, Decreased lec... |
OMIM:245900 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Tip-toe gait, Hypertonia, Difficulty walking, Inability to walk, Lower limb spasticity, Retrocoll... |
ORPHA:300605 |
| Myh9-Related Disease |
|
Myocardial infarction, Neutrophil inclusion bodies, Elevated circulating hepatic transaminase con... |
ORPHA:182050 |
| Sodium-Dependent Multivitamin Transporter Deficiency |
|
Decreased circulating IgG level |
OMIM:618973 |
| Classic Mycosis Fungoides |
|
Hepatomegaly, Lymphadenopathy, Skin rash, Abnormal lymphocyte morphology, Eczematoid dermatitis, ... |
ORPHA:2584 |
| Common Variable Immunodeficiency |
|
Chronic otitis media, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, R... |
ORPHA:1572 |
| Immunodeficiency 17 |
|
Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent otitis media, Decreased proporti... |
OMIM:615607 |
| Immunodeficiency, Common Variable, 10 |
|
Recurrent otitis media, Anti-thyroglobulin antibody positivity, Anti-thyroid peroxidase antibody ... |
OMIM:615577 |
| Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Increased erythrocyte protoporphyrin concentration, Anemia, Hypochromic microcytic anemia, Howell... |
OMIM:301310 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Neoplasm of the pancreas, Elevated circulating hepatic transaminase concentration, T lymphocytope... |
ORPHA:2959 |
| Mitochondrial Dna Depletion Syndrome 19 |
|
Microcytic anemia |
OMIM:618972 |
| Cog4-Cdg |
|
Cirrhosis, Elevated circulating hepatic transaminase concentration, Hypercholesterolemia, Recurre... |
ORPHA:263501 |
| Immunodeficiency 57 With Autoinflammation |
|
Perianal abscess, Gastritis, B lymphocytopenia, Skin rash, Decreased circulating antibody level, ... |
OMIM:618108 |
| Progressive Familial Intrahepatic Cholestasis |
|
Jaundice, Hepatomegaly, Hypocalcemia, Cholestasis, Failure to thrive, Splenomegaly, Abnormality o... |
ORPHA:172 |
| Aregenerative Anemia |
|
Abnormal bleeding, Erythroid hypoplasia, Lymphadenopathy, Pancytopenia, Abnormal proportion of CD... |
ORPHA:101096 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Spastic gait, Decreased liver function, Hepatomegaly, Acute hepatitis, Truncal ataxia, Spasticity... |
OMIM:238970 |
| Congenital Rubella Syndrome |
|
Jaundice, Anemia, Hepatomegaly, Skin rash, Thrombocytopenia, Splenomegaly |
ORPHA:290 |
| Immunodeficiency 31A |
|
BCGitis, Recurrent viral infections, Recurrent mycobacterium avium complex infections, Herpes sim... |
OMIM:614892 |
| Acquired Purpura Fulminans |
|
Prolonged prothrombin time, Shock, Elevated circulating C-reactive protein concentration, Macular... |
ORPHA:49566 |
| Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Recurrent infections, Decreased circulating antibody level, Lymphopenia, Erythroderma, Eosinophil... |
OMIM:617425 |
| Anti-Glomerular Basement Membrane Disease |
|
Purpura, Anemia, Respiratory insufficiency, Vasculitis, Arthritis, Autoimmunity |
ORPHA:375 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Decreased liver function, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ... |
ORPHA:42 |
| Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Jaundice, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration, Cholestasis, ... |
OMIM:619658 |
| Immunoneurologic Disorder, X-Linked |
|
Small for gestational age, Decreased circulating IgG2 level |
OMIM:300076 |
| Congenital Ichthyosiform Erythroderma |
|
Erythroderma, Failure to thrive, Keratitis, Pruritus |
ORPHA:79394 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Increased mean platelet volume, Thrombocytopenia, Iron deficiency anemia, Neutropenia |
ORPHA:494444 |
| Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Anemia, Ascites, Hypercalcemia, Thrombocytopenia |
ORPHA:2123 |
| Burkitt Lymphoma |
|
Abnormal lymph node morphology, Decreased proportion of CD4-positive helper T cells, Abnormality ... |
ORPHA:543 |
| Wolman Disease |
|
Failure to thrive, Hepatomegaly, Splenomegaly |
OMIM:620151 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8 |
|
Increased mean corpuscular volume, Portal hypertension, Thrombocytopenia, Splenomegaly, Nodular r... |
OMIM:620367 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Hepatomegaly, Choleli... |
OMIM:266200 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Recurrent aphthous stomatitis, Recurrent lower respiratory tract inf... |
OMIM:614868 |
| Sepsis In Premature Infants |
|
Decreased liver function, Jaundice, Anemia, Hepatomegaly, Increased circulating interleukin 6 con... |
ORPHA:90051 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Babinski sign, Difficulty walking, Lower limb spasticity, Fasciculations, Spasticity, Ankle clonu... |
OMIM:613954 |
| Gm1 Gangliosidosis |
|
Aspiration pneumonia, Failure to thrive, Hepatosplenomegaly, Splenomegaly, Weight loss, Decreased... |
ORPHA:354 |
| Specific Granule Deficiency 2 |
|
Recurrent otitis media, Anemia, Failure to thrive, Recurrent pneumonia, Thrombocytopenia, Absent ... |
OMIM:617475 |
| Leigh Syndrome |
|
Respiratory insufficiency, Spasticity, Failure to thrive, Hepatocellular necrosis, Ataxia, Respir... |
OMIM:256000 |
| Immunodeficiency 87 And Autoimmunity |
|
Hypertriglyceridemia, Cholestasis, Ascites, Lymphopenia, Hepatic steatosis, Decreased CD4:CD8 rat... |
OMIM:619573 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Elevated alkaline phosphatase of bone origin,... |
OMIM:616828 |
| Nocardiosis |
|
Scleritis, Liver abscess, Thyroiditis, Meningitis, Lymphadenitis, Severe infection, Pericarditis,... |
ORPHA:31204 |
| Iga Pemphigus |
|
Increased circulating IgA level, Monoclonal elevation of circulating IgA, Eosinophilia, Pustule, ... |
ORPHA:555905 |
| Autoinflammatory-Pancytopenia Syndrome |
|
Cholestatic liver disease, Severe Epstein Barr virus infection, Hemophagocytosis, Intestinal infl... |
OMIM:619858 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Cirrhosis, Hepatomegaly, Decreased specific anti-polysaccharide antibody level, Elevated circulat... |
OMIM:614576 |
| Igg4-Related Submandibular Gland Disease |
|
Prostatitis, Abnormal pancreas morphology, Cholangitis, Lymphadenopathy, Increased circulating an... |
ORPHA:449432 |
| Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Decreased methionine synthase activity, Normocytic anemia, Methylmalonic acidemia, Hyperhomocysti... |
OMIM:236270 |
| Gray Platelet Syndrome |
|
Abnormal bleeding, Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granu... |
OMIM:139090 |
| Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Babinski sign, Hypertonia, Steppage gait, Distal sensory impairment, Tremor, Gait ataxia, Intenti... |
OMIM:616505 |
| Overlap Myositis |
|
Abnormal circulating lipid concentration, Elevated circulating hepatic transaminase concentration... |
ORPHA:206572 |
| Hemochromatosis, Type 4 |
|
Cirrhosis, Hepatomegaly, Anemia, Cardiomyopathy, Osteoarthritis, Arrhythmia, Elevated transferrin... |
OMIM:606069 |
| Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections |
|
Increased circulating IgE level, Atopic dermatitis, Eosinophilic infiltration of the esophagus, R... |
OMIM:620532 |
| Systemic Primary Carnitine Deficiency |
|
Clumsiness, Hepatomegaly, Elevated circulating hepatic transaminase concentration |
ORPHA:158 |
| Cryoglobulinemic Vasculitis |
|
Hepatomegaly, Mediastinal lymphadenopathy, Circulating immune complexes, Arthritis, Viral hepatit... |
ORPHA:91138 |
| Intellectual Developmental Disorder, Fra12A Type |
|
Erythroderma |
OMIM:136630 |
| Zygomycosis |
|
Acute infectious pneumonia, Sinusitis, Pericarditis, Pustule, Neutropenia, Myocarditis, Splenic a... |
ORPHA:73263 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Elevated circulating hepatic transaminase concentration, Skin rash, Bone marrow hypocellularity, ... |
OMIM:615688 |
| Protoporphyria, Erythropoietic, X-Linked |
|
Increased erythrocyte protoporphyrin concentration, Elevated circulating hepatic transaminase con... |
OMIM:300752 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Pancreatitis, Hyperamylasemia, Hyperalaninemia, Elevated circulating creatine kinase concentratio... |
OMIM:619386 |
| Lysinuric Protein Intolerance |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated circulating hepatic trans... |
ORPHA:470 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Impaired epinephrine-induced platelet aggregation... |
OMIM:187900 |
| Non-Involuting Congenital Hemangioma |
|
Hepatic hemangioma, Telangiectasia of the skin, Thrombocytopenia, Congestive heart failure |
ORPHA:141179 |
| Pseudomyxoma Peritonei |
|
Abnormal peritoneum morphology, Respiratory insufficiency, Ascites, Inflammation of the large int... |
ORPHA:26790 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Cholestatic liver disease, Giant cell hepatitis, Jaundice, Elevated circulating hepatic transamin... |
OMIM:208085 |
| Amed Syndrome, Digenic |
|
Anemia, Acute myeloid leukemia, Failure to thrive, Bone marrow hypocellularity, Thrombocytopenia,... |
OMIM:619151 |
| Hepatocellular Carcinoma |
|
Subacute progressive viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis |
OMIM:114550 |
| Gaucher Disease, Type I |
|
Hepatomegaly, Anemia, Pancytopenia, Hypertension, Pulmonary arterial hypertension, Aortic valve s... |
OMIM:230800 |
| Benign Recurrent Intrahepatic Cholestasis |
|
Cholestatic liver disease, Cirrhosis, Jaundice, Pancreatitis, Elevated circulating hepatic transa... |
ORPHA:65682 |
| Complement Component 8 Deficiency, Type Ii |
|
Meningitis, Decreased circulating complement C8 concentration, Recurrent Neisserial infections |
OMIM:613789 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Decreased liver function, Failure to thrive, Cardiomyopathy, Thrombocytopenia |
ORPHA:67048 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Recurrent otitis media, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentra... |
OMIM:619525 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Reduced delayed hypersensitivity, Pyoderma, Aplasia of the thymus, Recurrent bronchopulmonary inf... |
OMIM:242700 |
| Erythrocytosis, Familial, 4 |
|
Polycythemia, Increased circulating hemoglobin concentration, Pruritus, Increased hematocrit |
OMIM:611783 |
| Isaacs Syndrome |
|
Fasciculations, Distal sensory impairment, Weight loss |
ORPHA:84142 |
| Aicardi-Goutieres Syndrome 5 |
|
Increased circulating interferon-gamma concentration, Thrombocytopenia, Chilblains |
OMIM:612952 |
| Chediak-Higashi Syndrome |
|
Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Periodontitis, Spontaneous, re... |
OMIM:214500 |
| Combined Saposin Deficiency |
|
Babinski sign, Hepatomegaly, Hyperkinetic movements, Fasciculations, Splenomegaly, Myoclonus |
OMIM:611721 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Hypocystinemia, Decreased circulating antibody level, Decreased serum creatinine, Failure to thri... |
OMIM:617744 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Impaired platelet aggregation, Poikilocytosis, Bone marrow hypocellularity, El... |
OMIM:300835 |
| Papa Syndrome |
|
Increased circulating antibody level, Myositis, Arthritis, Crohn's disease, Pustule, Acne, Increa... |
ORPHA:69126 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Anemia, Splenomegaly |
ORPHA:1802 |
| Tick-Borne Encephalitis |
|
Abnormal circulating cytokine concentration, Elevated circulating hepatic transaminase concentrat... |
ORPHA:297 |
| Stuve-Wiedemann Syndrome 2 |
|
Congestive heart failure, Thrombocytopenia, Pulmonary arterial hypertension, Eczematoid dermatitis |
OMIM:619751 |
| Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 1 |
|
Herpes simplex encephalitis, Recurrent herpes |
OMIM:610551 |
| Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Cachexia, Hypertonia |
ORPHA:1389 |
| Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Sensory ... |
OMIM:613470 |
| Pontocerebellar Hypoplasia Type 1 |
|
Tongue fasciculations, Spasticity, Failure to thrive, Ataxia, Respiratory failure |
ORPHA:2254 |
| Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Failure to thrive, Increased circulating IgE level, Recurrent pneumonia, Pustule |
OMIM:616069 |
| Interstitial Granulomatous Dermatitis With Arthritis |
|
Elevated circulating C-reactive protein concentration, Rheumatoid factor positive, Rheumatoid art... |
ORPHA:79099 |
| Waldenström Macroglobulinemia |
|
Congestive heart failure, Normocytic anemia, Hepatomegaly, Gastrointestinal hemorrhage, Lymphaden... |
ORPHA:33226 |
| Netherton Syndrome |
|
Increased circulating IgE level, Decreased circulating antibody level, Skin rash, Eczematoid derm... |
ORPHA:634 |
| Transaldolase Deficiency |
|
Decreased liver function, Cirrhosis, Hepatomegaly, Anemia, Pancytopenia, Failure to thrive, Throm... |
OMIM:606003 |
| Von Willebrand Disease, Platelet-Type |
|
Prolonged bleeding time, Intermittent thrombocytopenia |
OMIM:177820 |
| Diamond-Blackfan Anemia 4 |
|
Reticulocytopenia, Erythroid hypoplasia, Macrocytic anemia, Neutropenia |
OMIM:612527 |
| Asthma, Short Stature, And Elevated Iga |
|
Increased circulating IgA level |
OMIM:208600 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Hyperkalemia, Ventricular arrhythmia, Thrombocytopenia, Microangiopathic hemolytic anemia |
OMIM:141000 |
| Combined Oxidative Phosphorylation Deficiency 28 |
|
Respiratory failure, Increased serum pyruvate |
OMIM:616794 |
| Fanconi Anemia, Complementation Group V |
|
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Elevated circulating alpha-fetoprotein con... |
OMIM:617243 |
| Glycogen Storage Disease Vi |
|
Failure to thrive in infancy, Hepatomegaly, Elevated circulating hepatic transaminase concentrati... |
OMIM:232700 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Anemia, Hypokalemia, Hypocalcemia, Cachexia, Hypomagnesemia, Hematochezia |
OMIM:175500 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Neutropenia, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Crohn's di... |
OMIM:619705 |
| Phosphoglycerate Dehydrogenase Deficiency |
|
Reduced 3-phosphoglycerate dehydrogenase activity, Megaloblastic anemia, Thrombocytopenia |
OMIM:601815 |
| Lymphangiectasia, Intestinal |
|
Decreased circulating IgG level, Neonatal hypoproteinemia, Intestinal lymphangiectasia, Lymphopenia |
OMIM:152800 |
| Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Recurrent otitis media, Increased circulating IgE level, Eczematoid dermatitis, Keratitis, Bronch... |
OMIM:618523 |
| Ceroid Lipofuscinosis, Neuronal, 10 |
|
Respiratory insufficiency, Spasticity, Rigidity, Ataxia, Respiratory failure |
OMIM:610127 |
| Acute Lung Injury |
|
Abnormal circulating cytokine concentration, Increased circulating interleukin 6 concentration, E... |
ORPHA:178320 |
| Harderoporphyria |
|
Hepatomegaly, Reticulocytosis, Prolonged neonatal jaundice, Splenomegaly, Neonatal hyperbilirubin... |
OMIM:618892 |
| Nodular Non-Suppurative Panniculitis |
|
Hepatomegaly, Panniculitis, Inflammatory abnormality of the eye, Splenomegaly, Weight loss, Autoi... |
ORPHA:33577 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Recurrent respiratory infections, Decreased circulating IgG leve... |
ORPHA:2643 |
| Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
| Staphylococcal Necrotizing Pneumonia |
|
Elevated circulating C-reactive protein concentration, Acute infectious pneumonia, Leukocytosis, ... |
ORPHA:36238 |
| Immunodeficiency 31B |
|
Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections |
OMIM:613796 |
| Hyperekplexia 4 |
|
Respiratory failure, Hypertonia, Myoclonus |
OMIM:618011 |
| Systemic Lupus Erythematosus |
|
Decreased circulating complement C3 concentration, Cheilitis, Lymphadenopathy, Anti-U1 ribonucleo... |
ORPHA:536 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Incre... |
OMIM:615193 |
| Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Megaloblastic anemia |
OMIM:243320 |
| Fanconi Anemia, Complementation Group T |
|
Anemia, Acute myeloid leukemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:616435 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Cerebellar hemorrhage, Hepatomegaly, Pancreatitis, Methylmalonic acidemia, Cardiomyopathy, Failur... |
OMIM:251000 |
| Cryohydrocytosis |
|
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:185020 |
| Primary Lateral Sclerosis, Adult, 1 |
|
Abnormal upper motor neuron morphology |
OMIM:611637 |
| Christianson Syndrome |
|
Truncal ataxia, Cachexia, Gait ataxia |
ORPHA:85278 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly |
OMIM:617441 |
| Thrombotic Thrombocytopenic Purpura |
|
Reticulocytosis, Decreased serum creatinine, Arrhythmia, Thrombocytopenia, Microangiopathic hemol... |
ORPHA:54057 |
| Bloom Syndrome |
|
Cheilitis, Skin rash, Severe varicella zoster infection, Acute myeloid leukemia, Recurrent tonsil... |
ORPHA:125 |
| Aredyld Syndrome |
|
Cachexia, Hepatomegaly, Splenomegaly |
ORPHA:1133 |
| Sneddon Syndrome |
|
Decreased circulating total IgM, Antiphospholipid antibody positivity, Lymphopenia |
OMIM:182410 |
| Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Abnormal motor neuron morphology |
DECIPHER:29 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Tremor, Episodic ataxia, Myoclonus, Respiratory failure, Choreoathetosis, Small for gestational age |
OMIM:312170 |
| Rapidly Involuting Congenital Hemangioma |
|
Hepatic hemangioma, Telangiectasia of the skin, Thrombocytopenia, Congestive heart failure |
ORPHA:141184 |
| Hypocomplementemic Urticarial Vasculitis |
|
Hepatomegaly, Lymphadenopathy, Inflammatory abnormality of the eye, Arthritis, Skin rash, Ascites... |
ORPHA:36412 |
| Stormorken Syndrome |
|
Abnormal bleeding, Anemia, Howell-Jolly bodies, Elevated circulating creatine kinase concentratio... |
OMIM:185070 |
| Pemphigus Vulgaris, Familial |
|
Autoimmunity, Autoimmune antibody positivity |
OMIM:169610 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Decreased methionine synthase activity, Hepatomegaly, Anemia, Methylmalonic acidemia, Pancytopeni... |
OMIM:277380 |
| Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin |
ORPHA:163596 |
| Wolcott-Rallison Syndrome |
|
Jaundice, Hepatomegaly, Iron deficiency anemia, Elevated circulating hepatic transaminase concent... |
ORPHA:1667 |
| Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8 |
|
Herpes simplex encephalitis, Meningitis |
OMIM:617900 |
| Griscelli Syndrome Type 2 |
|
Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Petechiae, Hyperlipidemi... |
ORPHA:79477 |
| Erythrocytosis, Familial, 3 |
|
Increased circulating hemoglobin concentration, Increased red blood cell mass, Increased hematocrit |
OMIM:609820 |
| Galactosemia Iv |
|
Prolonged neonatal jaundice, Hepatomegaly |
OMIM:618881 |
| Hemochromatosis, Type 2A |
|
Congestive heart failure, Cirrhosis, Hepatomegaly, Arthritis, Cardiomyopathy, Increased circulati... |
OMIM:602390 |
| Farber Lipogranulomatosis |
|
Lipogranulomatosis, Hepatomegaly, Decreased acid ceramidase activity, Respiratory insufficiency, ... |
OMIM:228000 |
| Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Hypochromic microcytic anemia, Anemia, Increased serum pyruvate, Hyperalaninemia, Failure to thri... |
OMIM:619147 |
| Dietary Iron Overload Disease |
|
Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma, Hepatic periportal necrosis... |
ORPHA:139507 |
| Pelizaeus-Merzbacher Disease, Connatal Form |
|
Difficulty walking, Inability to walk, Lower limb spasticity, Titubation, Failure to thrive, Dyst... |
ORPHA:280210 |
| Mixed Connective Tissue Disease |
|
Myocarditis, Gastrointestinal hemorrhage, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopa... |
ORPHA:809 |
| Acute Peripheral Arterial Occlusion |
|
Myocardial infarction, Supraventricular tachycardia, Abnormal capillary physiology, Leukocytosis,... |
ORPHA:90064 |
| Erythrocytosis, Familial, 2 |
|
Increased red blood cell mass, Hypotension, Pulmonary arterial hypertension, Failure to thrive, I... |
OMIM:263400 |
| Plummer-Vinson Syndrome |
|
Cheilitis, Hypochromic microcytic anemia, Iron deficiency anemia, Decreased circulating ferritin ... |
ORPHA:54028 |
| Ciliary Dyskinesia, Primary, 5 |
|
Respiratory insufficiency due to defective ciliary clearance, Recurrent otitis media, Chronic rhi... |
OMIM:608647 |
| Von Willebrand Disease, Type 3 |
|
Abnormal bleeding, Impaired platelet aggregation, Prolonged bleeding time, Menorrhagia, Joint hem... |
OMIM:277480 |
| Gaucher Disease |
|
Cirrhosis, Hepatomegaly, Anemia, Increased circulating antibody level, Cholelithiasis, Pancytopen... |
ORPHA:355 |
| Niemann-Pick Disease, Type C2 |
|
Sea-blue histiocytosis, Jaundice, Hepatomegaly, Respiratory insufficiency, Bone-marrow foam cells... |
OMIM:607625 |
| X-Linked Sideroblastic Anemia |
|
Elevated circulating hepatic transaminase concentration, Abnormality of iron homeostasis, Anemia,... |
ORPHA:75563 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypertriglyceridemia, Hepatomegaly, Generalized lipodystrophy, Hypercholesterolemia, Hypocalcemia... |
OMIM:612526 |
| Caroli Disease |
|
Cholestasis, Ascites, Biliary cirrhosis, Splenomegaly, Jaundice, Intrahepatic cholestasis, Cholan... |
ORPHA:53035 |
| Castleman Disease |
|
Jaundice, Anemia, Mediastinal lymphadenopathy, Lymphadenopathy, Increased circulating interleukin... |
ORPHA:160 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Perianal abscess, Leukopenia, Splenomegaly, Lymphopenia, Neutropenia, Failure to thrive, Hepatosp... |
OMIM:612541 |
| Noonan Syndrome 12 |
|
Thrombocytopenia, Supravalvular aortic stenosis, Atopic dermatitis, Lymphopenia |
OMIM:618624 |
| Muscular Dystrophy, Congenital, 1B |
|
Respiratory failure, Elevated circulating creatine kinase concentration |
OMIM:604801 |
| Diamond-Blackfan Anemia 3 |
|
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:610629 |
| Hermansky-Pudlak Syndrome 9 |
|
Recurrent skin infections, Thrombocytopenia, Leukopenia, Abnormal platelet aggregation |
OMIM:614171 |
| Pelger-Huet Anomaly |
|
Recurrent otitis media, Giant platelets, Hyposegmentation of neutrophil nuclei, Eczematoid dermat... |
OMIM:169400 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Normochromic anemia, Hyperhomocystinemia, Pulmonary arterial hypertension... |
OMIM:614857 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Splenic cyst, Recurrent infections, Increased circulating thyroglobulin concentrati... |
OMIM:610199 |
| Hyper-Igd Syndrome |
|
Chronic oral candidiasis, Lymphadenopathy, Recurrent infections, Arthritis, Skin rash, Increased ... |
OMIM:260920 |
| Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 7 |
|
Herpes simplex encephalitis |
OMIM:616532 |
| Autoimmune Polyendocrine Syndrome, Type Ii |
|
Cirrhosis, Iron deficiency anemia, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Asple... |
OMIM:269200 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
Babinski sign, Respiratory insufficiency, Cachexia, Spasticity, Respiratory failure |
OMIM:618186 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Anemia, Elevated circulating C-reactive protein concentration, Vasculitis, Skin rash, Arthritis, ... |
ORPHA:324964 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... |
OMIM:300946 |
| Autoimmune Disease |
|
Autoimmunity, Autoimmune antibody positivity |
OMIM:109100 |
| Congenital Myopathy 14 |
|
Respiratory failure, Respiratory insufficiency due to muscle weakness, Abnormal circulating creat... |
OMIM:618414 |
| Dilated Cardiomyopathy With Ataxia |
|
Elevated circulating hepatic transaminase concentration, Hypochromic microcytic anemia, Prolonged... |
ORPHA:66634 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Enlarged kidney, Anemia, Bone marrow hypocellularity, Decreased circulating IgG level, Increased ... |
ORPHA:505248 |
| Japanese Encephalitis |
|
Increased circulating antibody level, Hyponatremia, Increased circulating IgM level, Neutrophilia... |
ORPHA:79139 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Perianal abscess, Increased circulating interleukin 6 concentration, Iron deficiency anemia, Thro... |
OMIM:301074 |
| Allergic Bronchopulmonary Aspergillosis |
|
Respiratory insufficiency, Abnormal eosinophil morphology, Pulmonary arterial hypertension, Weigh... |
ORPHA:1164 |
| Congenital Disorder Of Glycosylation, Type Iih |
|
Elevated circulating creatine kinase concentration, Elevated serum transaminases during infection... |
OMIM:611182 |
| Acquired Von Willebrand Syndrome |
|
Prolonged prothrombin time, Normocytic anemia, Gastrointestinal hemorrhage, Aortic regurgitation,... |
ORPHA:99147 |
| Immunodeficiency 83, Susceptibility To Viral Infections |
|
Herpes simplex encephalitis, Meningitis |
OMIM:613002 |
| Methylcobalamin Deficiency Type Cble |
|
Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume, Hyperhomocystinemia, Hyperten... |
ORPHA:2169 |
| Idiopathic Bronchiectasis |
|
Acute infectious pneumonia, Cachexia, Bronchiectasis |
ORPHA:60033 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Aplastic anemia, Pneumonia, Acute myeloid leukemia, Recurrent aphthous stomatitis, Periodontitis,... |
ORPHA:486 |
| Hermansky-Pudlak Syndrome 2 |
|
Recurrent abscess formation, Absent platelet dense granules, Chronic oral candidiasis, Recurrent ... |
OMIM:608233 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent Klebsiella infections, Recurrent E. coli infections, Liver abscess, Recurrent Staphyloc... |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent Klebsiella infections, Recurrent E. coli infections, Liver abscess, Recurrent Staphyloc... |
OMIM:233710 |
| Moyamoya Disease With Early-Onset Achalasia |
|
Hypertension, Thrombocytopenia, Raynaud phenomenon, Abnormal platelet aggregation |
ORPHA:401945 |
| Caroli Syndrome |
|
Hematemesis, Elevated circulating hepatic transaminase concentration, Leukopenia, Abnormal intrah... |
ORPHA:480520 |
| Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
| Crimean-Congo Hemorrhagic Fever |
|
Ascites, Increased circulating lactate dehydrogenase concentration, Leukopenia, Splenomegaly, Ery... |
ORPHA:99827 |
| Fetal Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Thrombocytopenia, Abnormality of the spleen, Splenomegaly, Intracrani... |
ORPHA:85212 |
| Immunodeficiency 11A |
|
Recurrent respiratory infections, Decreased circulating antibody level, Agammaglobulinemia, Reduc... |
OMIM:615206 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Respiratory failure, Inability to walk, Respiratory insufficiency due to muscle weakness, Difficu... |
OMIM:611890 |
| Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Fetal ascites, Hepatomegaly, Splenomegaly |
OMIM:619462 |
| Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Recurrent cutaneous abscess formation, Perifolliculitis, Chronic furunculosis, Acne inversa |
OMIM:613736 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Hepatomegaly, Respiratory insufficiency, Abnormality of extrapyramidal motor function, Spasticity... |
OMIM:614299 |
| Meningococcal Meningitis |
|
Skin rash, Neonatal respiratory distress, Elevated circulating C-reactive protein concentration, ... |
ORPHA:33475 |
| Spherocytosis, Type 2 |
|
Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia |
OMIM:616649 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Abnormal T cell morphology, Autoimmune hemolytic anemia, Systemic lupus erythematosus, Recurrent ... |
ORPHA:760 |
| Hemorrhagic Fever-Renal Syndrome |
|
Hematemesis, Elevated circulating hepatic transaminase concentration, Hypertension, Epistaxis, El... |
ORPHA:340 |
| Erythrocytosis, Familial, 7 |
|
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit |
OMIM:617981 |
| Erythrocytosis, Familial, 6 |
|
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit |
OMIM:617980 |
| Immunodeficiency 35 |
|
Increased circulating IgE level |
OMIM:611521 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Anemia, Hyperalaninemia, Elevated circulating acylcarnitine concentration, Failure to thrive, Res... |
OMIM:615838 |
| Familial Thrombocytosis |
|
Abnormal bleeding, Acute myeloid leukemia, Transient ischemic attack, Cerebral ischemia, Pulmonar... |
ORPHA:71493 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent Klebsiella infections, Recurrent E. coli infections, Liver abscess, Recurrent Staphyloc... |
OMIM:233690 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hashimoto thyroiditis, Hyponatremia, Thrombocytopenia, Leukocytosis |
ORPHA:83601 |
| Erythrocytosis, Familial, 5 |
|
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit |
OMIM:617907 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol... |
OMIM:300908 |
| Aceruloplasminemia |
|
Congestive heart failure, Increased circulating ferritin concentration, Hypochromic microcytic an... |
ORPHA:48818 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Cirrhosis, Elevated circulating hepatic transaminase concentration, Decreased circulating cerulop... |
OMIM:242150 |
| Acute Disseminated Encephalomyelitis |
|
Respiratory failure requiring assisted ventilation, Severe Epstein Barr virus infection, Myelitis... |
ORPHA:83597 |
| Ichthyosis, Congenital, Autosomal Recessive 7 |
|
Erythroderma |
OMIM:615022 |
| Infantile Sialic Acid Storage Disease |
|
Congestive heart failure, Hepatomegaly, Vacuolated lymphocytes, Ascites, Failure to thrive, Splen... |
OMIM:269920 |
| Palmoplantar Keratoderma, Epidermolytic, 1 |
|
Increased circulating IgE level |
OMIM:144200 |
| Schimke Immuno-Osseous Dysplasia |
|
Anemia, Pancreatitis, Abnormal proportion of naive CD4 T cells, Recurrent infections, Minimal cha... |
ORPHA:1830 |
| Yellow Fever |
|
Jaundice, Increased circulating interleukin 6 concentration, Hyperbilirubinemia, Skin rash, Acute... |
ORPHA:99829 |
| Formiminoglutamic Aciduria |
|
Abnormal circulating histidine concentration, Megaloblastic anemia, Anemia, Abnormal circulating ... |
ORPHA:51208 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Anti-smooth muscle antibody positivity, Large vessel vasculitis, Deep dermal p... |
ORPHA:49041 |
| Pearson Marrow-Pancreas Syndrome |
|
Hepatomegaly, Refractory sideroblastic anemia, Anemia, Elevated circulating hepatic transaminase ... |
OMIM:557000 |
| Hereditary Spherocytosis |
|
Jaundice, Anemia, Hepatomegaly, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp... |
ORPHA:822 |
| Diamond-Blackfan Anemia 12 |
|
Reticulocytopenia, Elevated red cell adenosine deaminase activity, Normochromic anemia, Macrocyti... |
OMIM:615550 |
| Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive |
|
Macrocytic dyserythropoietic anemia, Macrocytic anemia |
OMIM:619789 |
| Combined Oxidative Phosphorylation Deficiency 4 |
|
Respiratory failure, Spasticity, Hepatomegaly, Opisthotonus |
OMIM:610678 |
| Behçet Disease |
|
Acne, Pancreatitis, Recurrent aphthous stomatitis, Lymphadenopathy, Myositis, Optic neuritis, Art... |
ORPHA:117 |
| Livedoid Vasculopathy |
|
Abnormal circulating lipid concentration, Ischemic stroke, Anemia, Lupus anticoagulant, Pancytope... |
ORPHA:542643 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Autoimmune hemolytic anemia, Congestive heart failure, Jaundice, Chronic lymphatic leukemia, Sple... |
ORPHA:90033 |
| L-2-Hydroxyglutaric Aciduria |
|
Infectious encephalitis |
ORPHA:79314 |
| Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
| Cog7-Cdg |
|
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Recurrent infect... |
ORPHA:79333 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Anemia, Pancytopenia, Hypocalcemia, Increased circulating lactate dehydrogenase con... |
OMIM:259700 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Periportal fibro... |
OMIM:251880 |
| Complement Component 5 Deficiency |
|
Generalized seborrheic dermatitis, Reduced circulating CH50 activity, Decreased circulating compl... |
OMIM:609536 |
| Immunodeficiency 66 |
|
Recurrent skin infections, Pustule, Defective T cell proliferation |
OMIM:618847 |
| Pachydermoperiostosis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Anemia, Seborrheic dermatitis, Arthritis, Eczematoid d... |
ORPHA:2796 |
| Myeloproliferative Syndrome, Transient |
|
Leukocytosis, Transient myeloproliferative syndrome |
OMIM:159595 |
| Spherocytosis, Type 4 |
|
Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia |
OMIM:612653 |
| X-Linked Creatine Transporter Deficiency |
|
Hypertonia, Cachexia, Chorea, Athetosis, Ataxia |
ORPHA:52503 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Thyroiditis, Increased circulating IgE level, Eczematoid dermatitis |
OMIM:618985 |
| Immunodeficiency 32A |
|
Granuloma, Lymphadenitis, Lymphadenopathy |
OMIM:614893 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Congestive heart failure, Megaloblastic anemia, Cardiac arrest, Paroxysmal atrial tachycardia, Th... |
ORPHA:49827 |
| Congenital Muscular Dystrophy With Intellectual Disability |
|
Respiratory insufficiency, Respiratory failure, Poor gross motor coordination, Loss of ambulation |
ORPHA:370968 |
| Reynolds Syndrome |
|
Calcinosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Gast... |
OMIM:613471 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cardiomyopathy, Sideroblastic anemia, Thrombocytopenia, Arrhythmia, Thiamine-responsive megalobla... |
OMIM:249270 |
| Thrombocythemia 1 |
|
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Imp... |
OMIM:187950 |
| Lysinuric Protein Intolerance |
|
Hepatomegaly, Anemia, Hemophagocytosis, Pancreatitis, Respiratory insufficiency, Intraalveolar ph... |
OMIM:222700 |
| Shwachman-Diamond Syndrome 1 |
|
Hepatomegaly, Anemia, Acute myeloid leukemia, Elevated circulating hepatic transaminase concentra... |
OMIM:260400 |
| Eisenmenger Syndrome |
|
Ascites, Left-to-right shunt, Heart murmur, Abnormal bleeding, Right-to-left shunt, Elevated jugu... |
ORPHA:97214 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Hypertonia, Inability to walk, Cachexia, Spasticity, Failure to thrive in infancy |
OMIM:616801 |
| Celiac Disease, Susceptibility To, 1 |
|
Elevated circulating hepatic transaminase concentration, Recurrent aphthous stomatitis, Iron defi... |
OMIM:212750 |
| Tyrosinemia Type 1 |
|
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly |
ORPHA:882 |
| Chédiak-Higashi Syndrome |
|
Decreased liver function, Hypertriglyceridemia, Elevated circulating hepatic transaminase concent... |
ORPHA:167 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Skin rash, Increased total bilirubin, Systemic lupus erythematosus, ... |
ORPHA:90036 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
|
Abnormal lower motor neuron morphology |
OMIM:607641 |
| Chronic Beryllium Disease |
|
Mediastinal lymphadenopathy, Respiratory insufficiency, Abnormal proportion of CD4-positive T cel... |
ORPHA:133 |
| Immunodeficiency 33 |
|
Decreased circulating total IgM, Increased circulating IgA level |
OMIM:300636 |
| Methylmalonic Aciduria, Cblb Type |
|
Elevated circulating methylmalonylcarnitine concentration, Hepatomegaly, Anemia, Methylmalonic ac... |
OMIM:251110 |
| Immunodeficiency 12 |
|
Cheilitis, Absent isohemagglutinin level, Recurrent aphthous stomatitis, Recurrent lower respirat... |
OMIM:615468 |
| Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Erythroderma |
OMIM:133200 |
| Chronic Granulomatous Disease |
|
Liver abscess, Mediastinal lymphadenopathy, Hepatomegaly, Inflammatory abnormality of the eye, Ec... |
ORPHA:379 |
| Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Erythroderma, Acanthocytosis |
OMIM:604777 |
| Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Cachexia, Ataxia |
ORPHA:1933 |
| Huntington Disease-Like 2 |
|
Bradykinesia, Chorea, Action tremor, Rigidity, Weight loss |
OMIM:606438 |
| Encephalitis, Acute, Infection (Viral)-Induced, Susceptibility To, 11 |
|
Viral encephalitis |
OMIM:619441 |
| Ichthyosis With Confetti |
|
Erythroderma, Decreased body weight, Pruritus |
OMIM:609165 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Autoimmune hemolytic anemia, Recurrent abscess formation, Rectal abscess, Peritoneal abscess, Hyp... |
ORPHA:436252 |
| Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Bronchiectasis, Decreased circulating total IgM |
OMIM:615139 |
| Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Respiratory insufficiency, Ascites, Anemia, Splenomegaly |
ORPHA:1046 |
| Diamond-Blackfan Anemia 5 |
|
Leukopenia, Reticulocytopenia, Erythroid hypoplasia, Macrocytic anemia |
OMIM:612528 |
| Flynn-Aird Syndrome |
|
Impaired pain sensation, Cachexia, Ataxia |
ORPHA:2047 |
| Acute Interstitial Pneumonia |
|
Reduced hematocrit, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Hyper... |
ORPHA:79126 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Decreased liver function, Hepatomegaly, Anemia, Cholestasis, Ascites, Failure to thrive, Thromboc... |
OMIM:608104 |
| Maternal Uniparental Disomy Of Chromosome 1 |
|
Hepatomegaly, Panhypogammaglobulinemia, Pancytopenia, Recurrent infections, Failure to thrive |
ORPHA:251009 |
| Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
| Pyoderma Gangrenosum |
|
Increased circulating antibody level, Myositis, Rheumatoid arthritis, Inflammation of the large i... |
ORPHA:48104 |
| Hepatitis, Fulminant Viral, Susceptibility To |
|
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Fulminant hepati... |
OMIM:618549 |
| Immunodeficiency 68 |
|
Abnormal natural killer cell count, B lymphocytopenia, Recurrent meningitis, Lymphadenitis, T lym... |
OMIM:612260 |
| Pemphigus Foliaceus |
|
Pustule, Erythroderma, Autoimmunity, Psoriasiform dermatitis, Crusting erythematous dermatitis, P... |
ORPHA:79481 |
| Diamond-Blackfan Anemia 6 |
|
Macrocytic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Failure to thr... |
OMIM:612561 |
| Alpha-1-Antitrypsin Deficiency |
|
Cirrhosis, Elevated circulating hepatic transaminase concentration, Hepatocellular carcinoma, Spl... |
OMIM:613490 |
| Alveolar Echinococcosis |
|
Decreased liver function, Liver abscess, Anemia, Cholangitis, Jaundice, Increased circulating ant... |
ORPHA:284 |
| Complement Component 3 Deficiency, Autosomal Recessive |
|
Decreased circulating complement C3 concentration, Recurrent tonsillitis, Recurrent pneumonia, Sy... |
OMIM:613779 |
| Epidermolytic Hyperkeratosis 1 |
|
Erythroderma |
OMIM:113800 |
| Megaloblastic Anemia, Folate-Responsive |
|
Increased circulating ferritin concentration, Hyperhomocystinemia, Folate-responsive megaloblasti... |
OMIM:601775 |
| Familial Pseudohyperkalemia |
|
Hyperkalemia, Increased mean corpuscular volume, Hypertension, Reticulocytosis, Episodic hemolyti... |
ORPHA:90044 |
| Cholesteryl Ester Storage Disease |
|
Hypertriglyceridemia, Cirrhosis, Jaundice, Hepatomegaly, Splenomegaly, Hypercholesterolemia, Prur... |
ORPHA:75234 |
| Candidiasis, Familial, 8 |
|
Blepharitis, Chronic oral candidiasis, Cheilitis, Seborrheic dermatitis |
OMIM:615527 |
| Undifferentiated Pleomorphic Sarcoma |
|
Weight loss, Abnormal peritoneum morphology |
ORPHA:2023 |
| Bile Acid Synthesis Defect, Congenital, 4 |
|
Intrahepatic cholestasis, Giant cell hepatitis, Elevated circulating hepatic transaminase concent... |
OMIM:214950 |
| Biotinidase Deficiency |
|
Decreased circulating biotinidase concentration, Hepatomegaly, Seborrheic dermatitis, Skin rash, ... |
OMIM:253260 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Recurrent otitis media, Periodontitis, Reduction of neutrophil motility, Bronchiolitis, Neutrophi... |
OMIM:266265 |
| Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Respiratory failure, Ataxia, Dysmetria, Broad-based gait |
OMIM:618233 |
| Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp... |
OMIM:619849 |
| Isovaleric Acidemia |
|
Cerebellar hemorrhage, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Leukopenia |
OMIM:243500 |
| Immunodeficiency 21 |
|
Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Recurrent viral infections, Recurrent my... |
OMIM:614172 |
| Nipah Virus Disease |
|
Recurrent pharyngitis, Infectious encephalitis |
ORPHA:99825 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Decreased platelet glycoprotein Ib, Aortic regurgitation, Thrombocytopenia, Macrothrombocytopenia... |
OMIM:603585 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Aspiration pneumonia, Weight loss |
ORPHA:141152 |
| Vascular Malformation, Primary Intraosseous |
|
Gingival bleeding, Hypochromic anemia |
OMIM:606893 |
| Tufted Angioma |
|
Petechiae, Thrombocytopenia, Anemia, Purpura |
ORPHA:1063 |
| Focal Myositis |
|
Myositis, Elevated circulating creatine kinase concentration, Weight loss |
ORPHA:48918 |
| Nemaline Myopathy 8 |
|
Respiratory failure |
OMIM:615348 |
| Holocarboxylase Synthetase Deficiency |
|
Perioral eczema, Keratoconjunctivitis, Eczematoid dermatitis, Hyperammonemia, Thrombocytopenia, W... |
ORPHA:79242 |
| Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 5 |
|
Herpes simplex encephalitis |
OMIM:614849 |
| Neonatal Severe Primary Hyperparathyroidism |
|
Hepatomegaly, Splenomegaly |
ORPHA:417 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Chorea, Tremor, Upper motor neuron dysfunction, Rigidity, Ataxia, Parkinsonism, Myoclonus |
ORPHA:401901 |
| Acute Generalized Exanthematous Pustulosis |
|
Purpura, Cheilitis, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Cho... |
ORPHA:293173 |
| Galactosemia I |
|
Decreased liver function, Increased level of galactitol in red blood cells, Cirrhosis, Hepatomega... |
OMIM:230400 |
| Thrombocytopenia 2 |
|
Abnormal platelet shape, Leukocytosis, Thrombocytopenia, Bruising susceptibility, Abnormal platel... |
OMIM:188000 |
| Congenital Disorder Of Glycosylation, Type If |
|
Erythroderma, Failure to thrive, Hypertonia, Ataxia |
OMIM:609180 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Hyperhomocystinemia, Intraventricular hemorrhage, Stomatitis, Megaloblastic anemia, Elevated circ... |
ORPHA:79284 |
| Fusariosis |
|
Onychomycosis, Granuloma, Sinusitis, Unusual CNS infection, Lymphopenia, Neutropenia, Invasive fu... |
ORPHA:228119 |
| Kaposiform Lymphangiomatosis |
|
Enlarged kidney, Abnormal bleeding, Anemia, Epidural hemorrhage, Abnormality of the lymphatic sys... |
ORPHA:464329 |
| Aicardi-Goutieres Syndrome 1 |
|
Purpura, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Antiphospholipid ... |
OMIM:225750 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level |
OMIM:300861 |
| Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 10 |
|
Herpes simplex encephalitis |
OMIM:619396 |
| Amyloidosis, Familial Visceral |
|
Hepatomegaly, Skin rash, Hypertension, Cholestasis, Splenomegaly |
OMIM:105200 |
| Subacute Sclerosing Panencephalitis |
|
Infectious encephalitis |
OMIM:260470 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Cholelithiasis, Normochromic anemia, Bradycardia, Elevated circulat... |
OMIM:618775 |
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic... |
OMIM:601847 |
| Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Portal fibrosis, Elevated circulatin... |
OMIM:602347 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Cirrhosis, Anemia, Increased mean corpuscular volume, Budd-Chiari syndrome, Bone... |
OMIM:127550 |
| Breath-Holding Spells |
|
Iron deficiency anemia |
OMIM:607578 |
| Pernicious Anemia |
|
Megaloblastic anemia |
OMIM:170900 |
| Adult Acute Respiratory Distress Syndrome |
|
Increased circulating interleukin 6 concentration, Pancreatitis, Abnormal circulating interleukin... |
ORPHA:70578 |
| Sweet Syndrome |
|
Anemia, Acute myeloid leukemia, Panniculitis, Chronic lymphatic leukemia, Sterile abscess, Recurr... |
ORPHA:3243 |
| Bone Marrow Failure Syndrome 3 |
|
Aplastic anemia, Hyperechogenic pancreas, Anemia, Acute myeloid leukemia, Pancytopenia, Increased... |
OMIM:617052 |
| Thrombocytopenia, Paris-Trousseau Type |
|
Prolonged bleeding time, Abnormal bleeding, Thrombocytopenia |
OMIM:188025 |
| Thyrocerebrorenal Syndrome |
|
Nephritis, Thrombocytopenia |
ORPHA:3327 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Decreased liver function, Hepatomegaly, Anemia, Hypertrophic cardiomyopathy, Failure to thrive, R... |
OMIM:220110 |
| Spherocytosis, Type 1 |
|
Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia |
OMIM:182900 |
| Poliomyelitis |
|
Respiratory failure requiring assisted ventilation, Myelitis, Respiratory failure, Meningitis, In... |
ORPHA:2912 |
| Sengers Syndrome |
|
Respiratory insufficiency, Cardiac arrest, Pulmonary arterial hypertension, Hypertrophic cardiomy... |
OMIM:212350 |
| Rat-Bite Fever |
|
Morbilliform rash, Myocarditis, Abdominal aseptic abscess, Anemia, Pancreatitis, Arthritis, Skin ... |
ORPHA:31205 |
| Ziegler-Huang Syndrome |
|
Bone marrow hypocellularity, Persistence of hemoglobin F, Macrocytic anemia, Neutropenia |
OMIM:620501 |
| Jervell And Lange-Nielsen Syndrome |
|
Iron deficiency anemia, Prolonged QTc interval, Ventricular fibrillation, Arrhythmia, Syncope, To... |
ORPHA:90647 |
| Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Lymphadenopathy |
OMIM:617772 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Recurrent urinary tract infections, Anemia, Abnormal hemoglobin, Infectious encephalitis |
ORPHA:847 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic... |
OMIM:211600 |
| Perry Syndrome |
|
Bradykinesia, Akinesia, Respiratory insufficiency, Tremor, Respiratory arrest, Rigidity, Parkinso... |
OMIM:168605 |
| Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Acute leukemia, Cachexia, Recurrent pneumonia, Thrombocytopenia, Rec... |
ORPHA:647 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Prolonged prothrombin time, Congestive heart failure, Cerebellar hemorrhage, Elevated circulating... |
ORPHA:99901 |
| Primary Familial Polycythemia |
|
Abnormal bleeding, Polycythemia, Epistaxis, Abnormal hemoglobin, Pruritus |
ORPHA:90042 |
| Caffey Disease |
|
Respiratory insufficiency, Increased circulating antibody level |
ORPHA:1310 |
| Abetalipoproteinemia |
|
Prolonged prothrombin time, Decreased HDL cholesterol concentration, Elevated circulating hepatic... |
ORPHA:14 |
| Juvenile Temporal Arteritis |
|
Eosinophilia, Leukocytosis, Allergic rhinitis, Conjunctivitis |
ORPHA:26137 |
| Riddle Syndrome |
|
Decreased circulating total IgM, Arthritis, Neonatal asphyxia, Decreased circulating IgG level, R... |
ORPHA:420741 |
| Takayasu Arteritis |
|
Anemia, Inflammatory abnormality of the eye, Vasculitis, Arthritis, Hypertension, Hypertensive cr... |
ORPHA:3287 |
| Trichohepatoenteric Syndrome 2 |
|
Cirrhosis, Hepatomegaly, Chronic hepatitis, Failure to thrive, Decreased circulating iron concent... |
OMIM:614602 |
| Neuroendocrine Tumor Of Stomach |
|
Hematemesis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Iron deficien... |
ORPHA:100075 |
| Free Sialic Acid Storage Disease |
|
Hepatomegaly, Oculomotor apraxia, Spasticity, Athetosis, Ascites, Gait disturbance, Ataxia, Splen... |
ORPHA:834 |
| Infantile Krabbe Disease |
|
Lower limb spasticity, Ankle clonus, Cachexia, Decerebrate rigidity, Spasticity, Hyperesthesia, F... |
ORPHA:206436 |
| Inclusion Body Myositis |
|
Autoimmunity, Elevated circulating creatine kinase concentration |
ORPHA:611 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Macrocytic anemia, Reduction of neutrophil motility, Rectal abscess, Leukocytosis, Neutrophilia, ... |
OMIM:608203 |
| Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Decreased circulating total IgM, Decreased proportion of class-switched memory B cells, Bronchiol... |
OMIM:614878 |
| Huntington Disease-Like 1 |
|
Bradykinesia, Chorea, Incoordination, Poor fine motor coordination, Frequent falls, Gait ataxia, ... |
ORPHA:157941 |
| Budd-Chiari Syndrome |
|
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Gastr... |
ORPHA:131 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Pancytopenia, Increased blood urea nitrogen, Failure to thrive, Elevated circulatin... |
OMIM:617872 |
| Pseudo-Torch Syndrome 2 |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Bradycardia, Respiratory i... |
OMIM:617397 |
| Kaposi Sarcoma |
|
Skin rash, Recurrent herpes, Abnormality of the spleen, Weight loss, Abnormality of the liver, Ge... |
ORPHA:33276 |
| Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Hepatomegaly, Ascites, Weight loss |
ORPHA:2198 |
| Fish-Eye Disease |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:79292 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory failure, Failure to thrive |
OMIM:263000 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Chronic rhinitis due to narrow nasal airway, Anemia, Pancytopenia, Thrombocytopenia, Hepatospleno... |
OMIM:259710 |
| Congenital Disorder Of Glycosylation, Type Iij |
|
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Failure to thri... |
OMIM:613489 |
| C3 Glomerulopathy |
|
Decreased circulating complement C3 concentration, C3 nephritic factor positivity, Paraproteinemi... |
ORPHA:329918 |
| Rett Syndrome |
|
Truncal ataxia, Cachexia, Spasticity, Gait apraxia, Gait ataxia |
OMIM:312750 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Cholestatic liver disease, Jaundice, Giant cell hepatitis, Hepatomegaly, Elevated circulating hep... |
OMIM:613404 |
| Galactose Mutarotase Deficiency |
|
Decreased liver function, Failure to thrive, Hepatomegaly, Cholestasis |
ORPHA:570422 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory failure |
ORPHA:1832 |
| Cholestasis-Lymphedema Syndrome |
|
Cirrhosis, Jaundice, Hepatomegaly, Gastrointestinal hemorrhage, Abnormality of the lymphatic syst... |
ORPHA:1414 |
| Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Microcytic anemia |
ORPHA:293967 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Hepatomegaly, Anemia, Respiratory insufficiency, Failure to thrive, Weight loss, Recurrent respir... |
ORPHA:1842 |
| Thrombocytopenia 4 |
|
Thrombocytopenia, Abnormal platelet volume |
OMIM:612004 |
| Spondylometaphyseal Dysplasia, X-Linked |
|
Respiratory insufficiency, Respiratory failure |
OMIM:313420 |
| Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
| Isolated Polycystic Liver Disease |
|
Respiratory insufficiency, Hepatomegaly, Abnormality of the pancreas, Polycystic liver disease |
ORPHA:2924 |
| Kawasaki Disease |
|
Myocarditis, Cheilitis, Jaundice, Cervical lymphadenopathy, Recurrent pharyngitis, Elevated circu... |
ORPHA:2331 |
| Poems Syndrome |
|
Hepatomegaly, Lymphadenopathy, Increased circulating antibody level, Visceromegaly, Ascites, Poly... |
ORPHA:2905 |
| Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension |
OMIM:610293 |
| Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature |
|
Anemia, Reduced haptoglobin level, Recurrent infections, Schistocytosis, Recurrent infection of t... |
OMIM:301110 |
| Somatostatinoma |
|
Gastrointestinal hemorrhage, Intrahepatic cholestasis, Neoplasm of the pancreas, Hypochromic micr... |
ORPHA:97283 |
| Quebec Platelet Disorder |
|
Impaired epinephrine-induced platelet aggregation, Menorrhagia, Joint hemorrhage, Thrombocytopeni... |
OMIM:601709 |
| Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Respiratory failure, Hypertonia, Myoclonus |
OMIM:618240 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Hepatomegaly, Elevated circulating C-reactive protein concentration, Stomatitis, Skin rash, Pustu... |
OMIM:612852 |
| Elliptocytosis 1 |
|
Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia |
OMIM:611804 |
| Amyotrophic Lateral Sclerosis |
|
Babinski sign, Fasciculations, Cachexia, Spasticity, Paralysis, Respiratory failure |
ORPHA:803 |
| Proteus Syndrome |
|
Kyphoscoliosis, Lipoma, Spinal canal stenosis, Lymphangioma, Splenomegaly, Cerebriform connective... |
OMIM:176920 |
| Portal Hypertension, Noncirrhotic, 1 |
|
Hepatomegaly, Splenomegaly, Portal hypertension |
OMIM:617068 |
| Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Spontaneous hematomas, Abnormal bleeding, Gastrointestinal hemorrhage, Purpura, Melena, Cephalohe... |
ORPHA:853 |
| Birk-Aharoni Syndrome |
|
Failure to thrive, Macrocytic anemia |
OMIM:620071 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Abnormal circulating cytokine concentration, Heart block, Increased circulating interleukin 6 con... |
ORPHA:542323 |
| Marburg Hemorrhagic Fever |
|
Prolonged prothrombin time, Elevated circulating hepatic transaminase concentration, Increased ci... |
ORPHA:99826 |
| Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Autoimmune hemolytic anemia, Hepatomegaly, Panniculitis, Lymphadenopathy, Myositis, Splenomegaly |
OMIM:619183 |
| Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Hypertaurinemia, Respiratory insufficiency, Failure to thrive, Respiratory failure, Neonatal resp... |
OMIM:245400 |
| Granulomatous Disease, Chronic, X-Linked |
|
Recurrent Staphylococcus aureus infections, Discoid lupus rash, Recurrent bacterial skin infectio... |
OMIM:306400 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Respiratory failure, Spasticity |
OMIM:616277 |
| Mcdonough Syndrome |
|
Cachexia |
ORPHA:2471 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Normocytic anemia, Gastrointestinal hemorrhage, Normochromic anemia, Skin rash, Hypertension, Car... |
ORPHA:247691 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory failure requiring assisted ventilation, Hepatomegaly, Respiratory insufficiency, Left... |
ORPHA:308552 |
| Macrocephaly/Autism Syndrome |
|
Large for gestational age, Hepatomegaly, Recurrent otitis media, Recurrent infections, Decreased ... |
OMIM:605309 |
| Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Anemia, Melena, Cachexia, Hematochezia, Intestina... |
ORPHA:79076 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Congestive heart failure, Increased total bilirubin, Splenomegaly, T... |
ORPHA:90037 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased liver function, Congestive heart failure, Decreased HDL cholesterol concentration, Hepa... |
ORPHA:85450 |
| Shigellosis |
|
Myocarditis, Purpura, Pneumonia, Acute colitis, Arthritis, Splenic abscess, Cholestasis, Leukocyt... |
ORPHA:810 |
| Pyridoxal Phosphate-Responsive Seizures |
|
Abnormal circulating histidine concentration, Abnormal circulating threonine concentration, Abnor... |
ORPHA:79096 |
| Ichthyosis, Congenital, Autosomal Recessive 10 |
|
Erythroderma |
OMIM:615024 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Large for gestational age, Anemia, Failure to thrive, Bone marrow hypocellularity, Thrombocytopen... |
OMIM:614520 |
| Lyme Disease |
|
Arthritis, Meningitis, Infectious encephalitis, Uveitis |
ORPHA:91546 |
| Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Anemia, Lymphadenopathy, Hip osteoarthritis, Knee osteoarthritis, Arthritis, Synovitis, Antinucle... |
ORPHA:85408 |
| Muckle-Wells Syndrome |
|
Hepatomegaly, Anemia, Recurrent aphthous stomatitis, Vasculitis, Skin rash, Arthritis, Episclerit... |
ORPHA:575 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Lung abscess, Liver abscess, Anemia, Elevated circulating hepatic transaminase concentration, Ele... |
ORPHA:67 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Infection associated neutropenia, Elevated circulating hepatic transaminase concentration, Bone m... |
ORPHA:445038 |
| Mitochondrial Trifunctional Protein Deficiency 1 |
|
Congestive heart failure, Elevated circulating hepatic transaminase concentration, Respiratory in... |
OMIM:609015 |
| Epidermolytic Hyperkeratosis 2A, Autosomal Dominant |
|
Erythroderma |
OMIM:620150 |
| Scedosporiosis |
|
Unusual skin infection, Invasive fungal infection, Sinusitis, Pericarditis, Severe infection, Art... |
ORPHA:449280 |
| Pulmonary Arteriovenous Malformation |
|
Ischemic stroke, Abnormal bleeding, Liver abscess, Myocardial infarction, Iron deficiency anemia,... |
ORPHA:2038 |
| Coproporphyria, Hereditary |
|
Jaundice, Hepatomegaly, Hypertension, Splenomegaly, Tachycardia |
OMIM:121300 |
| Hypotrichosis Simplex Of The Scalp |
|
Increased circulating IgE level, Pruritus, Atopic dermatitis, Allergic rhinitis |
ORPHA:90368 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Anemia, Elevated circulating hepatic transaminase concentration, Accessory spleen, Recurrent infe... |
OMIM:620005 |
| Shwachman-Diamond Syndrome 2 |
|
Prolonged prothrombin time, Normocytic anemia, Hyperechogenic pancreas, Hepatomegaly, Failure to ... |
OMIM:617941 |
| Gerstmann-Straussler Disease |
|
Bradykinesia, Limb ataxia, Apraxia, Truncal ataxia, Spasticity, Tremor, Gait ataxia, Rigidity, Pa... |
OMIM:137440 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Myocarditis, Congestive heart failure, Purpura, Respiratory insufficiency, Vasculitis, Skin rash,... |
ORPHA:183 |
| Neutropenia, Severe Congenital, X-Linked |
|
Eczematoid dermatitis, Monocytopenia, Decreased CD4:CD8 ratio, Recurrent bacterial infections, Ne... |
OMIM:300299 |
| Hemochromatosis, Type 1 |
|
Cirrhosis, Hepatomegaly, Azoospermia, Hepatocellular carcinoma, Ascites, Impotence, Testicular at... |
OMIM:235200 |
| Galactokinase Deficiency |
|
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Neonatal asphyxia, Increased... |
ORPHA:79237 |
| Wilson Disease |
|
Portal fibrosis, Ascites, Acute hepatic failure, Splenomegaly, High nonceruloplasmin-bound serum ... |
OMIM:277900 |
| Sickle Cell Disease |
|
Jaundice, Hepatomegaly, Cholelithiasis, Hypertension, Splenic infarction, Leukocytosis, Target ce... |
OMIM:603903 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Congestive heart failure, Anemia, Panniculitis, B lymphocytopenia, Noncompaction cardiomyopathy, ... |
ORPHA:508542 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Bone marrow hypocellularity, Refractory anemia, Thrombocytopenia, Leukopenia |
OMIM:231095 |
| Polymyositis |
|
Abnormal atrioventricular conduction, Congestive heart failure, Gastrointestinal hemorrhage, Hepa... |
ORPHA:732 |
| Osteopetrosis, Autosomal Dominant 3 |
|
Hepatomegaly, Anemia, Splenomegaly |
OMIM:618107 |
| Epidermodysplasia Verruciformis |
|
Seborrheic dermatitis, Pustule, Recurrent skin infections |
ORPHA:302 |
| Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Babinski sign, Hypertonia, Spasticity, Cerebral palsy, Clonus, Opisthotonus, Myoclonus, Spastic t... |
OMIM:619847 |
| Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Impaired pain sensation, Eosinophilia, Lymphopenia |
ORPHA:2582 |
| Moyamoya Disease 6 With Or Without Achalasia |
|
Ischemic stroke, Hypertension, Thrombocytopenia, Raynaud phenomenon |
OMIM:615750 |
| Alopecia Areata 1 |
|
Autoimmunity |
OMIM:104000 |
| Splenoportal Vascular Anomalies |
|
Cirrhosis, Anomalous splenoportal venous system, Ascites, Hyperammonemia, Splenomegaly, Hepatic f... |
OMIM:271500 |
| Combined Oxidative Phosphorylation Deficiency 18 |
|
Hypersegmentation of neutrophil nuclei, Macrocytic anemia |
OMIM:615578 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Hepatomegaly, Anemia, Hypocalcemic seizures, Decreased circulating IgG level, Recurrent pneumonia... |
OMIM:612301 |
| Mirage Syndrome |
|
Hyperkalemia, Anemia, Petechiae, Decreased body weight, Aspiration pneumonia, Hyponatremia, Hypop... |
OMIM:617053 |
| Pleural Mesothelioma |
|
Hepatomegaly, Lymphadenopathy, Weight loss |
ORPHA:50251 |
| Juvenile Primary Lateral Sclerosis |
|
Abnormal upper motor neuron morphology |
ORPHA:247604 |
| Harlequin Ichthyosis |
|
Respiratory insufficiency, Erythroderma |
ORPHA:457 |
| Protoporphyria, Erythropoietic, 1 |
|
Hypertriglyceridemia, Cholelithiasis, Eczematoid dermatitis, Hemolytic anemia, Pruritus, Hepatic ... |
OMIM:177000 |
| Igg4-Related Thyroid Disease |
|
Sclerosing cholangitis, Hypocalcemia, Thyroiditis, Anti-thyroglobulin antibody positivity, Anti-t... |
ORPHA:64744 |
| Orotic Aciduria |
|
Hypochromia, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemia... |
OMIM:258900 |
| Granulomatosis With Polyangiitis |
|
Chronic otitis media, Respiratory insufficiency, Localized pulmonary hemorrhage, Perinuclear anti... |
OMIM:608710 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Hepatomegaly, Seborrheic dermatitis, Ascites, Aspiration pneumonia, Thrombocytopenia, Splenomegal... |
OMIM:301072 |
| Thrombocytopenia 1 |
|
Decreased mean platelet volume, Petechiae, Increased circulating IgE level, Increased circulating... |
OMIM:313900 |
| Systemic Capillary Leak Syndrome |
|
Myocarditis, Pancreatitis, Leukocytosis, Hypotension, Pericarditis, Cardiorespiratory arrest, Wei... |
ORPHA:188 |
| Phoar2-Enteropathy Syndrome |
|
Hypoalbuminemia, Seborrheic dermatitis, Acne |
OMIM:614441 |
| Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Respiratory failure, Ataxia |
ORPHA:1861 |
| Pseudo-Torch Syndrome 1 |
|
Decreased liver function, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase conce... |
OMIM:251290 |
| Monosomy 22 |
|
Hypochromic microcytic anemia, Seborrheic dermatitis, Hepatosplenomegaly, Aplasia of the thymus |
ORPHA:96123 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... |
ORPHA:247598 |
| Elastoderma |
|
Erysipelas, Hyperesthesia, Eczematoid dermatitis |
ORPHA:228240 |
| Gaisböck Syndrome |
|
Hypertriglyceridemia, Myocardial infarction, Increased red blood cell count, Elevated plasma cell... |
ORPHA:90041 |
| Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Respiratory insufficiency, Abnormality of extrapyramidal motor function, Spastic tetraparesis, Fa... |
OMIM:605711 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Respiratory failure requiring assisted ventilation, Decreased liver function, Cirrhosis, Hepatome... |
ORPHA:77293 |
| Congenital Neuronal Ceroid Lipofuscinosis |
|
Respiratory failure, Neonatal respiratory distress, Elevated circulating creatine kinase concentr... |
ORPHA:168486 |
| Riddle Syndrome |
|
Decreased circulating IgG level |
OMIM:611943 |
| Hypermanganesemia With Dystonia 1 |
|
Bradykinesia, Decreased liver function, Steppage gait, Cirrhosis, Elevated circulating hepatic tr... |
OMIM:613280 |
| Familial Mediterranean Fever |
|
Hepatomegaly, Elevated circulating C-reactive protein concentration, Crohn's disease, Arthritis, ... |
OMIM:249100 |
| Oculopharyngodistal Myopathy |
|
Difficulty walking, Paraplegia, Vocal cord paresis, Respiratory insufficiency due to muscle weakn... |
ORPHA:98897 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Diaphragmatic paralysis, Ventilator dependence with inability to wean, Failure to thrive, Respira... |
OMIM:604320 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Cirrhosis, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Recurrent opportunistic i... |
OMIM:613987 |
| Methylmalonic Aciduria, Cbla Type |
|
Decreased methylmalonyl-CoA mutase activity, Hepatomegaly, Anemia, Methylmalonic acidemia, Pancyt... |
OMIM:251100 |
| Bile Acid Synthesis Defect, Congenital, 2 |
|
Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepa... |
OMIM:235555 |
| Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Panniculitis, Hepatosplenomegaly, Hemophagocytosis, Weight loss |
ORPHA:86884 |
| Amoebiasis Due To Free-Living Amoebae |
|
Unusual skin infection, Increased red blood cell count, Granuloma, Sinusitis, Pustule, Pneumonia,... |
ORPHA:68 |
| Laryngeal Neuroendocrine Tumor |
|
Elevated circulating carcinoembryonic antigen concentration, Weight loss |
ORPHA:100083 |
| Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Cachexia, Gait disturbance |
ORPHA:2774 |
| Eosinophilic Fasciitis |
|
Myositis, Abnormal eosinophil morphology, Arthritis, Weight loss, Eosinophilia, Fasciitis |
ORPHA:3165 |
| Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Abnormal social behavior |
ORPHA:436151 |
| Joubert Syndrome 33 |
|
Ataxia, Splenomegaly |
OMIM:617767 |
| Psoriasis 14, Pustular |
|
Cholangitis, Elevated circulating C-reactive protein concentration, Leukocytosis, Pustule, Neutro... |
OMIM:614204 |
| Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Abnormal circulating lipid concentration, Cachexia, Hyperlipoproteinemia, Weight loss |
ORPHA:1979 |
| Huntington Disease |
|
Bradykinesia, Babinski sign, Decreased body mass index, Difficulty walking, Gait imbalance, Inabi... |
ORPHA:399 |
| Sclerosing Cholangitis, Neonatal |
|
Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Chole... |
OMIM:617394 |
| Gaucher Disease Type 2 |
|
Recurrent respiratory infections, Hepatomegaly, Splenomegaly |
ORPHA:77260 |
| B4Galt1-Cdg |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Abnormal circulating enzym... |
ORPHA:79332 |
| Intermediate Nemaline Myopathy |
|
Respiratory failure, Difficulty walking |
ORPHA:171433 |
| Primary Ciliary Dyskinesia |
|
Chronic otitis media, Recurrent otitis media, Chronic rhinitis, Asplenia, Chronic sinusitis, Recu... |
ORPHA:244 |
| Acute Radiation Syndrome |
|
Abnormal bleeding, Hypotension, Thrombocytopenia, Inflammatory abnormality of the skin, Lymphopen... |
ORPHA:454831 |
| Platelet Disorder, Undefined |
|
Impaired platelet aggregation, Prolonged bleeding time, Abnormal bleeding, Thrombocytopenia |
OMIM:173420 |
| Subacute Cutaneous Lupus Erythematosus |
|
Cheilitis, Antiphospholipid antibody positivity, Anti-dsDNA antibody positivity, Malar rash, Disc... |
ORPHA:163525 |
| Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Recurrent respiratory infections, Hepatitis |
ORPHA:363523 |
| Igg4-Related Ophthalmic Disease |
|
Prostatitis, Pancreatitis, Cholangitis, Lymphadenopathy, Elevated circulating C-reactive protein ... |
ORPHA:449563 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Enlarged kidney, Cholestasis, Ascites, Biliary hyperplasia, Splenomegaly, Abnormal intrahepatic b... |
ORPHA:731 |
| Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilic liver infiltration, Atopic dermatitis, Failure to thrive, Recurrent viral infections... |
OMIM:618999 |
| Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Increased circulating IgE level, Pruritus |
ORPHA:89843 |
| Lymphoid Interstitial Pneumonia |
|
Enlarged kidney, Hepatomegaly, Mediastinal lymphadenopathy, Skin rash, Eczematoid dermatitis, Rhe... |
ORPHA:79128 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Decreased specific antibody response to vaccination, Recurrent aspiration pneumonia, Decreased ci... |
ORPHA:221139 |
| Familial Cold Autoinflammatory Syndrome 1 |
|
Elevated circulating C-reactive protein concentration, Arthritis, Skin rash, Leukocytosis, Conjun... |
OMIM:120100 |
| Loeffler Endocarditis |
|
Congestive heart failure, Aortic regurgitation, Palpitations, Restrictive cardiomyopathy, Right b... |
ORPHA:75566 |
| Hamamy Syndrome |
|
Hypochromic anemia, Mitral regurgitation, Microcytic anemia, Prolonged QRS complex |
OMIM:611174 |
| Imerslund-Grasbeck Syndrome 1 |
|
Megaloblastic anemia |
OMIM:261100 |
| Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome |
|
Gastritis, Megaloblastic anemia, Folate-unresponsive megaloblastic anemia, Recurrent respiratory ... |
ORPHA:2575 |
| Incontinentia Pigmenti |
|
Skin rash, Keratitis, Eosinophilia, Infectious encephalitis, Uveitis |
ORPHA:464 |
| Neuroblastoma |
|
Abnormal bleeding, Anemia, Lymphadenopathy, Hypertension, Abdominal mass, Thrombocytopenia, Weigh... |
ORPHA:635 |
| Igg4-Related Pachymeningitis |
|
Pancreatitis, Elevated circulating C-reactive protein concentration, Parotitis, Lymphadenitis, Re... |
ORPHA:449427 |
| Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Elevated circulating hepatic transaminase concentration, Exocrine pancreatic insufficiency, Abnor... |
OMIM:618752 |
| Thyrocerebroretinal Syndrome |
|
Nephritis, Thrombocytopenia |
OMIM:274240 |
| Necrotizing Enterocolitis |
|
Shock, Bradycardia, Ascites, Leukocytosis, Hypotension, Hyponatremia, Thrombocytopenia, Peritonit... |
ORPHA:391673 |
| Schimke Immunoosseous Dysplasia |
|
Abnormal T cell morphology, Anemia, Abnormal immunoglobulin level, Pancytopenia, Recurrent infect... |
OMIM:242900 |
| Rheumatoid Arthritis |
|
Anti-citrullinated protein antibody positivity, Elevated circulating C-reactive protein concentra... |
OMIM:180300 |
| Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Hepatomegaly, Pancreatitis, Intrahepatic cholestasis with episodic jaundice, Intermittent jaundic... |
OMIM:243300 |
| Ring Chromosome 10 Syndrome |
|
Hypocalcemia, Cachexia |
ORPHA:1438 |
| Aicardi-Goutieres Syndrome 9 |
|
Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Increased blood pr... |
OMIM:619487 |
| Mevalonic Aciduria |
|
Ataxia, Splenomegaly |
ORPHA:29 |
| Kasabach-Merritt Phenomenon |
|
Prolonged prothrombin time, Hepatic hemangioma, Purpura, Anemia, Petechiae, Abnormal lymphatic ve... |
ORPHA:2330 |
| Leptospirosis |
|
Jaundice, Hepatomegaly, Lymphadenopathy, Optic neuritis, Skin rash, Meningitis, Pericarditis, Thr... |
ORPHA:509 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Anemia, Cholelithiasis, Pancytopenia, Cachexia, Spontaneous, recurrent epistaxis, Bacterial endoc... |
ORPHA:2072 |
| Secondary Intestinal Lymphangiectasia |
|
Cirrhosis, Decreased circulating total IgM, Recurrent infections, Decreased circulating antibody ... |
ORPHA:90363 |
| Adult-Onset Nemaline Myopathy |
|
Mildly elevated creatine kinase, Respiratory insufficiency due to muscle weakness, Paraproteinemia |
ORPHA:171442 |
| Roifman Syndrome |
|
Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Noncompaction cardiomyopathy, Eczematoid d... |
OMIM:616651 |
| Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Decreased methionine synthase activity, Decreased methylmalonyl-CoA mutase activity, Methylmaloni... |
OMIM:277410 |
| Interstitial Lung And Liver Disease |
|
Cirrhosis, Hepatomegaly, Anemia, Respiratory insufficiency, Intraalveolar phospholipid accumulati... |
OMIM:615486 |
| Myelofibrosis |
|
Purpura, Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullar... |
OMIM:254450 |
| Hurler-Scheie Syndrome |
|
Hepatomegaly, Abnormal vertebral morphology, Abnormality of the tonsils, Spinal canal stenosis, S... |
ORPHA:93476 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Difficulty walking, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Chorea... |
ORPHA:369840 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Aplastic anemia, Pancytopenia, Failure to thrive, Bone marrow hypocellularity, Thrombocytopenia, ... |
OMIM:613989 |
| Mcleod Syndrome |
|
Hepatomegaly, Reduced haptoglobin level, Atrial fibrillation, Cardiomyopathy, Elevated circulatin... |
OMIM:300842 |
| Hereditary Geniospasm |
|
Abnormal social behavior |
ORPHA:53372 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent otitis media, Recurrent respiratory infections, Panhypogammaglobulinemia, B lymphocytop... |
OMIM:601495 |
| Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Spherocytosis, Splenomegaly |
ORPHA:66518 |
| Bernard-Soulier Syndrome |
|
Hematemesis, Spontaneous hematomas, Gastrointestinal hemorrhage, Abnormal bleeding, Giant platele... |
ORPHA:274 |
| Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Purpura, Acute myeloid leukemia, Abnormal dense granule content, Impaired platelet aggregation, P... |
OMIM:601399 |
| Glycogen Storage Disease Ixa1 |
|
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hype... |
OMIM:306000 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Jaundice, Transient ischemic attack, Reticulocytosis, Increased blood urea nitrogen, Prolonged ne... |
OMIM:274150 |
| Farber Disease |
|
Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, Abnormal circul... |
ORPHA:333 |
| Hartnup Disease |
|
Skin rash, Infectious encephalitis |
ORPHA:2116 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Elevated alkaline phosphatase of bone origin, Hepatomegaly, Hypocalcemic seizures, Hypocalcemia, ... |
ORPHA:289157 |
| Diamond-Blackfan Anemia 11 |
|
Bone marrow hypocellularity, Anemia of inadequate production, Neutropenia |
OMIM:614900 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anemia, Hypertension, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anemia, Hypertension, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic... |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anemia, Hypertension, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic... |
OMIM:612926 |
| Alopecia-Intellectual Disability Syndrome 4 |
|
Erythroderma |
OMIM:618840 |
| Glycogen Storage Disease Ixb |
|
Hepatomegaly, Hyperuricemia, Increased hepatic glycogen content, Splenomegaly, Reduced hepatic ph... |
OMIM:261750 |
| Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Respiratory insufficiency, Respiratory failure, Spastic tetraplegia |
OMIM:615330 |
| Congenital Disorder Of Glycosylation, Type It |
|
Recurrent otitis media, Intrahepatic cholestasis, Hepatomegaly, Elevated circulating hepatic tran... |
OMIM:614921 |
| Gaucher Disease, Type Ii |
|
Hepatomegaly, Anemia, Bronchiolitis, Failure to thrive, Recurrent aspiration pneumonia, Thrombocy... |
OMIM:230900 |
| Mucopolysaccharidosis Type 7 |
|
Recurrent respiratory infections, Hepatitis, Splenomegaly, Ascites |
ORPHA:584 |
| Perry Syndrome |
|
Abnormality of extrapyramidal motor function, Tremor, Parkinsonism, Weight loss |
ORPHA:178509 |
| Cerebral Visual Impairment |
|
Infectious encephalitis, Meningitis, Unusual CNS infection |
ORPHA:447788 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Enlarged kidney, Elevated circulating hepatic transaminase concentration, Hyperammonemia, Cardiom... |
OMIM:608836 |
| Familial Papillary Or Follicular Thyroid Carcinoma |
|
Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy, Spinal cord compression |
ORPHA:319487 |
| Myopathy With Lactic Acidosis, Hereditary |
|
Anemia, Elevated circulating creatine kinase concentration, Sideroblastic anemia, Leukopenia, Pal... |
OMIM:255125 |
| Congenital Disorder Of Glycosylation, Type Ii |
|
Hepatomegaly, Decreased body weight, Iron deficiency anemia |
OMIM:607906 |
| Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Recurrent aphthous stomatitis, Crohn's disease, Inflammation of the large intestine, Weight loss,... |
OMIM:266600 |
| Congenital Myopathy 21 With Early Respiratory Failure |
|
Respiratory failure, Elevated circulating creatine kinase concentration |
OMIM:620326 |
| Anemia, Congenital Dyserythropoietic, Type Iiia |
|
Jaundice, Reduced haptoglobin level, Macrocytic anemia, Anemia of inadequate production, Congenit... |
OMIM:105600 |
| Diamond-Blackfan Anemia 7 |
|
Recurrent otitis media, Macrocytic anemia, Increased mean corpuscular volume, Recurrent infection... |
OMIM:612562 |
| Ullrich Congenital Muscular Dystrophy |
|
Respiratory failure, Torticollis, Frequent falls |
ORPHA:75840 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anemia, Hypertension, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic... |
OMIM:612924 |
| Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Seborrheic dermatitis |
OMIM:610227 |
| Lig4 Syndrome |
|
Recurrent respiratory infections, Pancytopenia, Failure to thrive, Acute lymphoblastic leukemia, ... |
OMIM:606593 |
| Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Elliptocytosis, Anemia of inadequate production, Hemolytic anemia |
OMIM:166910 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Thrombocytopenia, ... |
OMIM:616959 |
| X-Linked Immunoneurologic Disorder |
|
Decreased circulating IgG2 level |
ORPHA:2571 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Tip-toe gait, Babinski sign, Respiratory insufficiency, Cholestasis, Chronic hepatic failure, Fre... |
ORPHA:746 |
| Thrombocytopenia 10 |
|
Abnormal bleeding, Decreased mean platelet volume, Petechiae, Spontaneous, recurrent epistaxis, M... |
OMIM:620484 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Decreased liver function, Prolonged prothrombin time, Cirrhosis, Hepatomegaly, Elevated circulati... |
ORPHA:367 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Prolonged prothrombin time, Elevated circulating hepatic transaminase concentration, Abnormal cir... |
ORPHA:88618 |
| Lujo Hemorrhagic Fever |
|
Myocarditis, Purpura, Elevated circulating hepatic transaminase concentration, Elevated circulati... |
ORPHA:319213 |
| Renpenning Syndrome |
|
Cachexia |
ORPHA:3242 |
| Klatskin Tumor |
|
Jaundice, Hepatomegaly, Weight loss, Cholangiocarcinoma, Extrahepatic cholestasis |
ORPHA:99978 |
| Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy |
ORPHA:97290 |
| Parenteral Nutrition-Associated Cholestasis |
|
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chole... |
ORPHA:567983 |
| Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Loss of ambulation, Respiratory failure, Ataxia, Frequent falls |
OMIM:620166 |
| Lassa Fever |
|
Increased circulating IgM level, Jaundice, Conjunctivitis |
ORPHA:99824 |
| Congenital Fibrinogen Deficiency |
|
Prolonged prothrombin time, Abnormal bleeding, Gingival bleeding, Internal hemorrhage, Splenic ru... |
ORPHA:335 |
| Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Spastic tetraplegia, Cachexia, Severe failure to thrive, Hyperesthesia |
ORPHA:371364 |
| Diabetes Mellitus, Ketosis-Prone |
|
Autoimmunity, Beta-cell dysfunction |
OMIM:612227 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anemia, Hypertension, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic... |
OMIM:612925 |
| Congenital Syphilis |
|
Myocarditis, Purpura, Anemia, Pancreatitis, Lymphadenopathy, Petechiae, Synovitis, Prolonged neon... |
ORPHA:499009 |
| Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Cholelithiasis, Pruritus |
OMIM:605479 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Decreased liver function, Cirrhosis, Anemia, Elevated circulating hepatic transaminase concentrat... |
OMIM:613658 |
| Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Perianal abscess, Pyoderma, Crohn's disease, Folliculitis, Enterocolitis, Colitis |
OMIM:613148 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Tip-toe gait, Inability to walk, Spasticity, Frequent falls, Gait disturbance, Aspiration pneumon... |
ORPHA:216866 |
| Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Recurrent pneumonia, Splenomegaly, Hepatomegaly |
OMIM:615637 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Tip-toe gait, Respiratory failure, Difficulty walking, Frequent falls |
OMIM:606612 |
| Granulomatous Slack Skin |
|
Abnormal lymph node morphology |
ORPHA:33111 |
| Muckle-Wells Syndrome |
|
Recurrent aphthous stomatitis, Elevated circulating C-reactive protein concentration, Leukocytosi... |
OMIM:191900 |
| Ataxia-Telangiectasia |
|
Aplasia/Hypoplasia of the thymus, Failure to thrive, Ataxia, Lymphopenia |
ORPHA:100 |
| Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Cachexia, Spasticity, Ataxia, Skin rash |
ORPHA:220295 |
| Autoerythrocyte Sensitization Syndrome |
|
Gastrointestinal hemorrhage, Impaired platelet adhesion, Oral cavity bleeding, Superficial dermal... |
ORPHA:324636 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Decreased circulating complement C3 concentration, Decreased circulating complement factor I conc... |
OMIM:235400 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Respiratory failure, Neonatal respiratory distress |
OMIM:616867 |
| Alg8-Cdg |
|
Elevated circulating hepatic transaminase concentration, Anemia, Ascites, Failure to thrive, Hypo... |
ORPHA:79325 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Aplastic anemia, Gastrointestinal hemorrhage, Anemia, Macrocytic anemia, Pancytopenia, Bone marro... |
OMIM:613990 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Respiratory failure, Respiratory insufficiency due to muscle weakness, Elevated circulating creat... |
ORPHA:352447 |
| Blue Rubber Bleb Nevus |
|
Abnormality of the liver, Thrombocytopenia, Iron deficiency anemia, Intestinal bleeding |
OMIM:112200 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Hepatomegaly, Splenomegaly |
ORPHA:2204 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Thrombocytopenia, Anemia, Portal hypertension, Lymphopenia |
OMIM:620365 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Anemia, Hypochromia, Elevated hepatic iron concentration, Increased circulating iron concentratio... |
OMIM:206100 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Macrovesicular hepatic steatosis, Hypercholesterolemia, Acute hepatic steat... |
ORPHA:209902 |
| Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Splenomegaly, Pancytopenia |
OMIM:614979 |
| Hoyeraal-Hreidarsson Syndrome |
|
Anemia, Abnormal leukocyte morphology, Failure to thrive, Bone marrow hypocellularity, Thrombocyt... |
ORPHA:3322 |
| Chikungunya |
|
Cervical lymphadenopathy, Lymphadenopathy, Arthritis, Skin rash, Synovitis, Enthesitis, Pruritus,... |
ORPHA:324625 |
| Mogs-Cdg |
|
Hepatomegaly, Decreased circulating antibody level, Decreased circulating IgG level, Thrombocytop... |
ORPHA:79330 |
| Stt3B-Cdg |
|
Failure to thrive, Thrombocytopenia |
ORPHA:370924 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hematemesis, Gastrointestinal hemorrhage, Vitreous hemorrhage, Muscle hemorrhage, Melena, Hyperbi... |
ORPHA:464321 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Reduced hematocrit, Increased circulating antibody level, Normochromic anemia,... |
ORPHA:91500 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Anemia, Portal fibrosis, Hepatomegaly, E... |
ORPHA:264580 |
| Alg1-Cdg |
|
Recurrent infections, Respiratory failure, Hypoalbuminemia, Decreased liver function |
ORPHA:79327 |
| Al Amyloidosis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Anemia, Increased circulating antibody level, Increase... |
ORPHA:85443 |
| Nephronophthisis 2 |
|
Hyperkalemia, Chronic tubulointerstitial nephritis, Respiratory insufficiency, Respiratory failur... |
OMIM:602088 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Hyperkalemia, Recurrent tonsillitis, Cholelithiasis, Hypovolemic shock, Atopic dermatitis, Increa... |
ORPHA:171876 |
| Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Respiratory failure, Difficulty walking, Frequent falls |
OMIM:603689 |
| Ichthyosis With Erythrokeratoderma |
|
Erythroderma, Pruritus |
OMIM:620507 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Decreased liver function, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ... |
ORPHA:26791 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Congestive heart failure, Cirrhosis, Hepatomegaly, Abnormality of iron homeostasis, Elevated jugu... |
ORPHA:465508 |
| Camurati-Engelmann Disease |
|
Hepatomegaly, Anemia, Elevated circulating aldolase concentration, Cachexia, Slender build, Leuko... |
ORPHA:1328 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Failure to thrive, Thrombocytopenia |
OMIM:615597 |
| Ichthyosis, Hystrix-Like, With Deafness |
|
Erythroderma, Punctate keratitis |
OMIM:602540 |
| Hereditary Elliptocytosis |
|
Jaundice, Cholelithiasis, Hyperbilirubinemia, Reticulocytosis, Poikilocytosis, Prolonged neonatal... |
ORPHA:288 |
| Ataxia-Telangiectasia |
|
Recurrent lower respiratory tract infections, Recurrent bronchitis, Hypoplasia of the thymus, T l... |
OMIM:208900 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Pancreatitis, Hypokalemia, Acute colitis, Leukocytosis, Dysfunctional alternative complement path... |
ORPHA:90038 |
| Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105500 |
| Isolated Biliary Atresia |
|
Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transam... |
ORPHA:30391 |
| Retinitis Pigmentosa 59 |
|
Failure to thrive, Spasticity, Hepatomegaly, Elevated circulating hepatic transaminase concentration |
OMIM:613861 |
| Osteootohepatoenteric Syndrome |
|
Portal fibrosis, Anemia, Increased serum bile acid concentration, Hypokalemia, Microvesicular hep... |
OMIM:619377 |
| Whim Syndrome |
|
Severe periodontitis, Parotitis, Decreased circulating antibody level, Lymphadenitis, Abnormal ne... |
ORPHA:51636 |
| Hereditary Methemoglobinemia |
|
Athetosis, Small for gestational age, Methemoglobinemia |
ORPHA:621 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Anemia, Hyperuricemia, Recurrent infections, Gout, Elevated circulating creatinine concentration,... |
OMIM:617056 |
| Trichothiodystrophy 3, Photosensitive |
|
Recurrent infections, Increased circulating IgA level, Failure to thrive, Abdominal adhesions, Ly... |
OMIM:616395 |
| Oligoarticular Juvenile Idiopathic Arthritis |
|
Increased circulating interferon-gamma concentration, Arthritis, Knee osteoarthritis, Uveitis, Rh... |
ORPHA:85410 |
| Brain-Lung-Thyroid Syndrome |
|
Apraxia, Falls, Incoordination, Chorea, Intention tremor, Involuntary movements, Failure to thriv... |
ORPHA:209905 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal fibrosis... |
ORPHA:369 |
| Congenital Myopathy 10B, Mild Variant |
|
Elevated circulating creatine kinase concentration, Recurrent pneumonia, Mildly elevated creatine... |
OMIM:620249 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory failure requiring assisted ventilation, Ventilator dependence with inability to wean,... |
ORPHA:254864 |
| Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Hypertonia, Hepatomegaly, Respiratory insufficiency, Gait disturbance, Failure to thrive |
ORPHA:2971 |
| Gm1-Gangliosidosis, Type Iii |
|
Hepatomegaly, Anterior beaking of lumbar vertebrae, Scoliosis, Kyphosis, Splenomegaly, Platyspondyly |
OMIM:230650 |
| Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Intestinal lymphangiectasia, Lymphopenia |
OMIM:207731 |
| Granulomatosis With Polyangiitis |
|
Chronic otitis media, Gastrointestinal hemorrhage, Inflammatory abnormality of the eye, Skin rash... |
ORPHA:900 |
| Glucagonoma |
|
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Intrahepatic cholestasis, Hepatomegaly, No... |
ORPHA:97280 |
| Peripheral Primitive Neuroectodermal Tumor |
|
Pelvic mass, Neoplasm of the pancreas, Pancreatitis, Anemia, Jaundice, Ascites, Increased circula... |
ORPHA:370348 |
| Bathing Suit Ichthyosis |
|
Erythroderma, Impaired temperature sensation |
ORPHA:100976 |
| Yao Syndrome |
|
Arthritis, Skin rash, Pericarditis, Inflammatory abnormality of the skin, Weight loss, Keratoconj... |
OMIM:617321 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Chronic oral candidiasis, Cholelithiasis, Chronic active hepatitis, Chronic mucocutaneous candidi... |
OMIM:240300 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Systemic lupus erythematosus, Purpura, Recurrent otitis media, Lymphadenopathy, Juvenile rheumato... |
OMIM:607944 |
| Linear Iga Dermatosis |
|
Autoimmunity, Epistaxis, Pruritus, Inflammation of the large intestine |
ORPHA:46488 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Decreased liver function, Elevated circulating hepatic transaminase concentration, Macrovesicular... |
OMIM:618329 |
| Acute Adrenal Insufficiency |
|
Hyperkalemia, Normocytic anemia, Orthostatic hypotension, Hyperuricemia, Hypotension, Hypovolemia... |
ORPHA:95409 |
| Trichothiodystrophy 1, Photosensitive |
|
Erythroderma, Decreased circulating IgG level, Small for gestational age, Keratoconjunctivitis sicca |
OMIM:601675 |
| Wolfram Syndrome 1 |
|
Sideroblastic anemia, Megaloblastic anemia, Cardiomyopathy, Thrombocytopenia |
OMIM:222300 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Prolonged prothrombin time, Jaundice, Anemia, Elevated circulating hepatic transaminase concentra... |
ORPHA:20 |
| Neutrophilic Dermatosis, Acute Febrile |
|
Small vessel vasculitis, Increased circulating interleukin 6 concentration, Anemia, Elevated circ... |
OMIM:608068 |
| Hellp Syndrome |
|
Prolonged prothrombin time, Elevated circulating hepatic transaminase concentration, Decreased me... |
ORPHA:244242 |
| Congenital Pulmonary Lymphangiectasia |
|
Congestive heart failure, Hepatomegaly, Ascites, Pulmonary arterial hypertension, Tricuspid regur... |
ORPHA:2414 |
| Arthrogryposis Multiplex Congenita 6 |
|
Respiratory failure, Akinesia |
OMIM:619334 |
| Mucous Membrane Pemphigoid |
|
Autoimmunity |
ORPHA:46486 |
| Necrobiosis Lipoidica |
|
Granuloma, Inflammatory abnormality of the skin, Abnormality of neutrophil physiology |
ORPHA:542592 |
| Hermansky-Pudlak Syndrome 5 |
|
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Menorrhagia, Thrombocy... |
OMIM:614074 |
| Ileal Neuroendocrine Tumor |
|
Elevated circulating hepatic transaminase concentration, Iron deficiency anemia, Lymphadenopathy,... |
ORPHA:100078 |
| Gaucher Disease, Perinatal Lethal |
|
Purpura, Hepatomegaly, Anemia, Petechiae, Decreased body weight, Ascites, Thrombocytopenia, Hepat... |
OMIM:608013 |
| Cryptogenic Organizing Pneumonia |
|
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Weight loss |
ORPHA:1302 |
| Neurocutaneous Melanocytosis |
|
Infectious encephalitis |
ORPHA:2481 |
| Trichothiodystrophy |
|
Anemia, Panhypogammaglobulinemia, Increased mean corpuscular hemoglobin concentration, Recurrent ... |
ORPHA:33364 |
| Lamellar Ichthyosis |
|
Chronic otitis media, Erythroderma, Pruritus |
ORPHA:313 |
| Acquired Ichthyosis |
|
Autoimmunity, Recurrent skin infections, Pruritus |
ORPHA:454 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Decreased liver function, Hepatomegaly, Tongue fasciculations, Myoclonus, Respiratory failure, He... |
OMIM:614922 |
| Adenohypophysitis |
|
Normochromic anemia, Hashimoto thyroiditis, Hyponatremia, Antinuclear antibody positivity, Chroni... |
ORPHA:95512 |
| Lead Poisoning |
|
Abnormal T cell morphology, Decreased HDL cholesterol concentration, Anemia, Skin rash, Increased... |
ORPHA:330015 |
| Gaucher Disease Type 3 |
|
Hepatomegaly, Anemia, Increased circulating antibody level, Pancytopenia, Thrombocytopenia, Splen... |
ORPHA:77261 |
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Congestive heart failure, Elevated circulating hepatic transaminase concentration, Microvesicular... |
OMIM:611126 |
| Neuraminidase Deficiency |
|
Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomyopathy, Ascites, Splenomega... |
OMIM:256550 |
| Inflammatory Bowel Disease 11 |
|
Inflammation of the large intestine, Weight loss |
OMIM:191390 |
| Niemann-Pick Disease Type C |
|
Chorea, Ascites, Ataxia, Splenomegaly, Myoclonus, Clumsiness, Jaundice, Tremor, Cataplexy, Hepato... |
ORPHA:646 |
| Alg12-Cdg |
|
Elevated circulating hepatic transaminase concentration, Recurrent pharyngitis, Partial absence o... |
ORPHA:79324 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Congestive heart failure, Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Left ventr... |
ORPHA:444013 |
| Leigh Syndrome |
|
Decreased circulating biotinidase concentration, Anemia, Abnormal circulating enzyme concentratio... |
ORPHA:506 |
| Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities |
|
Failure to thrive, Thrombocytopenia |
OMIM:616577 |
| Tetrasomy 12P |
|
Cachexia |
ORPHA:884 |
| Congenital Analbuminemia |
|
Increased circulating antibody level, Hypoproteinemia, Hyperlipidemia, Obesity, Hypoalbuminemia, ... |
ORPHA:86816 |
| Myopathy With Extrapyramidal Signs |
|
Hypervalinemia, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Leukocytos... |
OMIM:615673 |
| Pemphigus Vulgaris |
|
Anti-desmoglein-3 antibody positivity, Anti-desmoglein-1 antibody positivity, Weight loss, Recurr... |
ORPHA:704 |
| Dyskeratosis Congenita, Digenic |
|
Anemia, Recurrent infections, Decreased circulating IgG level, Failure to thrive, Decreased circu... |
OMIM:620040 |
| Intestinal Dysmotility Syndrome |
|
Failure to thrive, Weight loss |
OMIM:620045 |
| Cartilage-Hair Hypoplasia |
|
Susceptibility to chickenpox, Impaired lymphocyte transformation with phytohemagglutinin, Anemia,... |
OMIM:250250 |
| Interstitial Lung Disease 2 |
|
Increased circulating antibody level |
OMIM:178500 |
| Congenital Bile Acid Synthesis Defect Type 4 |
|
Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen... |
ORPHA:79095 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Hepatomegaly, Cholelithiasis, B lymphocytopenia, Seborrheic dermatitis, Pancreatic hypoplasia, Su... |
ORPHA:83617 |
| Immunodeficiency 55 |
|
Absent natural killer cells, Neutropenia, Lymphadenopathy, Lymphopenia |
OMIM:617827 |
| Poikiloderma With Neutropenia |
|
Recurrent otitis media, Skin rash, Elevated circulating creatine kinase concentration, Recurrent ... |
OMIM:604173 |
| Sarcoidosis, Susceptibility To, 2 |
|
Hepatomegaly, Mediastinal lymphadenopathy, Pulmonary arterial hypertension, Bronchiectasis, Splen... |
OMIM:612387 |
| Chronic Hiccup |
|
Weight loss |
ORPHA:396 |
| Mccune-Albright Syndrome |
|
Hepatocellular adenoma, Pancreatitis, Pancytopenia, Cholestasis, Bone marrow hypocellularity, Hyp... |
ORPHA:562 |
| Congenital Tricuspid Valve Dysplasia |
|
Respiratory failure requiring assisted ventilation, Hepatomegaly, Right ventricular hypertrophy, ... |
ORPHA:555874 |
| Muscular Dystrophy, Duchenne Type |
|
Tip-toe gait, Waddling gait, Respiratory insufficiency due to muscle weakness, Loss of ambulation... |
OMIM:310200 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Delayed puberty, Male hypogonadism, Azoospermia, Oligozoospermia, Delayed menarche, Testicular at... |
ORPHA:52901 |
| Chronic Thromboembolic Pulmonary Hypertension |
|
Congestive heart failure, Lupus anticoagulant, Increased pulmonary vascular resistance, Elevated ... |
ORPHA:70591 |
| Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency |
|
Chronic otitis media, Recurrent infections, Skin rash, Increased circulating IgE level, Eczematoi... |
ORPHA:2314 |
| Vici Syndrome |
|
Chronic mucocutaneous candidiasis, Cutaneous anergy, Elevated circulating creatine kinase concent... |
OMIM:242840 |
| Addison Disease |
|
Hyperkalemia, Normocytic anemia, Orthostatic hypotension, Hyperuricemia, Hypotension, Increased c... |
ORPHA:85138 |
| Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 6 |
|
Herpes simplex encephalitis, Recurrent aphthous stomatitis |
OMIM:614850 |
| Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Palmar pruritus, Pruritus on foot, Increased body weight, Eczematoid dermatitis, Pruritis on abdo... |
ORPHA:64745 |
| Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Babinski sign, Spasticity, Spastic tetraparesis, Frequent falls, Lower limb hypertonia, Ataxia, L... |
ORPHA:3208 |
| Central Hypoventilation Syndrome, Congenital, 3 |
|
Respiratory failure |
OMIM:619483 |
| Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Respiratory failure, Hepatomegaly |
OMIM:614862 |
| Smith-Kingsmore Syndrome |
|
Large for gestational age, Decreased circulating IgA level, Thrombocytopenia |
OMIM:616638 |
| Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Pancreatitis, Angina pectoris, Vacuolated lymphocytes, Low-output congestive heart ... |
ORPHA:565612 |
| Lichen Planopilaris |
|
Hepatitis, Pruritus |
ORPHA:525 |
| Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Anemia, Pan... |
ORPHA:36426 |
| Panhypophysitis |
|
Normochromic anemia, Hashimoto thyroiditis, Hyponatremia, Antinuclear antibody positivity, Chroni... |
ORPHA:95513 |
| Pearson Syndrome |
|
Elevated circulating hepatic transaminase concentration, Reticulocytosis, Bone marrow hypocellula... |
ORPHA:699 |
| Fanconi Anemia, Complementation Group E |
|
Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Bruising susceptibility, Small for ges... |
OMIM:600901 |
| Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Granulocytopenia, Macrocytic anemia |
OMIM:606164 |
| Lethal Congenital Contracture Syndrome 2 |
|
Respiratory failure, Akinesia |
OMIM:607598 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Anemia, Hepatomegaly, Elevated circulati... |
ORPHA:79240 |
| Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Bone marrow hypocellularity, Splenomegaly, A... |
ORPHA:86843 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Monocytosis, Neutropenia |
OMIM:613107 |
| Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay |
|
Platelet anisocytosis, Increased mean platelet volume, Ventricular arrhythmia, Thrombocytopenia, ... |
OMIM:620475 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Hepatomegaly, Methylmalonic acidemia, Hyperhomocystinemia, Bradycardia, Megaloblastic anemia, Car... |
OMIM:277400 |
| Polycystic Liver Disease 2 With Or Without Kidney Cysts |
|
Hepatic cysts, Hepatomegaly |
OMIM:617004 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Anemia, Seborrheic dermatitis, Decreased circulating antibody level, Leukocytosis, Thrombocytopen... |
OMIM:274000 |
| Chronic Mucocutaneous Candidiasis |
|
Cheilitis, Recurrent infections, Recurrent urinary tract infections, Skin rash, Recurrent respira... |
ORPHA:1334 |
| Vipoma |
|
Intrahepatic cholestasis, Neoplasm of the pancreas, Hepatomegaly, Normochromic anemia, Hypokalemi... |
ORPHA:97282 |
| Diamond-Blackfan Anemia |
|
Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt... |
ORPHA:124 |
| Tyrosinemia, Type I |
|
Prolonged prothrombin time, Enlarged kidney, Cirrhosis, Elevated circulating hepatic transaminase... |
OMIM:276700 |
| Biliary Atresia, Extrahepatic |
|
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Porta... |
OMIM:210500 |
| Glycogen Storage Disease Ixc |
|
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentr... |
OMIM:613027 |
| Adams-Oliver Syndrome |
|
Cirrhosis, Gastrointestinal hemorrhage, Ascites, Portal hypertension, Pulmonary arterial hyperten... |
ORPHA:974 |
| Pancreatic Colipase Deficiency |
|
Megaloblastic anemia, Exocrine pancreatic insufficiency, Cholelithiasis |
ORPHA:309108 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Scler... |
OMIM:619662 |
| Bloom Syndrome |
|
Malar rash, Decreased circulating IgG level, Elevated hemoglobin A1c, Recurrent upper respiratory... |
OMIM:210900 |
| Tangier Disease |
|
Hypertriglyceridemia, Anemia, Chronic noninfectious lymphadenopathy, Orange discolored tonsils, T... |
ORPHA:31150 |
| Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Jaundice, Hepatomegaly, Cholestasis, Portal hypertension, Splenomegaly |
ORPHA:59303 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Anemia, Increased hepatic glycogen content, Elevated hepatic iron concentration, Copper accumulat... |
OMIM:614946 |
| Alexander Disease |
|
Respiratory insufficiency, Failure to thrive, Infectious encephalitis |
ORPHA:58 |
| Congenital Erythropoietic Porphyria |
|
Abnormal bleeding, Increased erythrocyte protoporphyrin concentration, Reduced haptoglobin level,... |
ORPHA:79277 |
| Tangier Disease |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Decreased circulatin... |
OMIM:205400 |
| O'Sullivan-Mcleod Syndrome |
|
Eosinophilia, Increased circulating antibody level |
ORPHA:99965 |
| Thrombocytopenia 6 |
|
Abnormal bleeding, Thrombocytopenia, Spontaneous, recurrent epistaxis |
OMIM:616937 |
| Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Dysgammaglobulinemia, Recurrent otitis media, B lymphocytopenia, Rec... |
OMIM:251260 |
| Thrombocytopenia 3 |
|
Decreased mean platelet volume, Petechiae, Thrombocytopenia, Epistaxis |
OMIM:273900 |
| Alstrom Syndrome |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Elevated circulating... |
OMIM:203800 |
| Liver Failure, Infantile, Transient |
|
Jaundice, Macrovesicular hepatic steatosis, Hepatomegaly, Elevated circulating hepatic transamina... |
OMIM:613070 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevated circulating creat... |
OMIM:301056 |
| Nephroblastoma |
|
Neoplasm of the liver, Lymphadenopathy, Weight loss |
ORPHA:654 |
| Roifman Syndrome |
|
Eosinophilia, Hepatosplenomegaly, Lymphadenopathy |
ORPHA:353298 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hypoalbuminemia, Abnormal circulating polysaccharide concentration, Weight loss, Abnormal circula... |
ORPHA:103910 |
| Malt Lymphoma |
|
Mediastinal lymphadenopathy, Anemia, Lymphadenopathy, Weight loss |
ORPHA:52417 |
| Nephronophthisis 19 |
|
Hepatomegaly, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibrosis, Malformation ... |
OMIM:616217 |
| Fanconi Anemia, Complementation Group A |
|
Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Bruising susceptibility, Small for ges... |
OMIM:227650 |
| Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Hyperuricemia, Hypertension, Leukocytosis, Hypotension, Hyperammonemia, Weight loss... |
ORPHA:134 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Myocarditis, Hyperkalemia, Pancreatitis, Increased circulating interleukin 6 concentration, Acute... |
ORPHA:544482 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Lipoatrophy, Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Pancreatitis, Maternal diabetes, Hype... |
ORPHA:79083 |
| Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Lymphadenopathy, Elevated circulating C-reactive protein concentration, Myositis, Vasculitis, Ski... |
ORPHA:32960 |
| Fanconi Anemia, Complementation Group F |
|
Anemia, Bone marrow hypocellularity, Failure to thrive, Thrombocytopenia, Leukopenia, Pneumonia |
OMIM:603467 |
| Herpes Simplex Virus Encephalitis |
|
Respiratory failure requiring assisted ventilation, Elevated circulating C-reactive protein conce... |
ORPHA:1930 |
| Cysticercosis |
|
Infectious encephalitis, Increased anti-parasite IgE antibody level, Increased circulating antibo... |
ORPHA:1560 |
| Xfe Progeroid Syndrome |
|
Elevated circulating hepatic transaminase concentration, Cachexia, Ascites, Failure to thrive, Po... |
OMIM:610965 |
| Cirrhotic Cardiomyopathy |
|
Prolonged QT interval, Third heart sound, Ascites, Left ventricular hypertrophy, Cardiomegaly, El... |
ORPHA:57777 |
| Stiff-Person Syndrome |
|
Tachycardia, Autoimmunity, Hypertension, Anemia |
OMIM:184850 |
| Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Increased circulating IgE level |
ORPHA:1858 |
| Beemer-Ertbruggen Syndrome |
|
Respiratory insufficiency, Thrombocytopenia |
ORPHA:1237 |
| Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Anemia, Pan... |
ORPHA:537 |
| Braddock-Carey Syndrome 2 |
|
Thrombocytopenia |
OMIM:619981 |
| Periodic Fever, Familial, Autosomal Dominant |
|
Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Skin rash, Erysipelas, Conjunctivitis, Hepat... |
OMIM:142680 |
| Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Erythroderma |
OMIM:242300 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory failure requiring assisted ventilation, Abnormal circulating protein concentration, E... |
ORPHA:264675 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic ste... |
OMIM:600649 |
| Infantile Liver Failure Syndrome 3 |
|
Prolonged prothrombin time, Jaundice, Elevated circulating hepatic transaminase concentration, He... |
OMIM:618641 |
| Digeorge Syndrome |
|
Recurrent otitis media, Anemia, Cholelithiasis, Recurrent infections, Seborrheic dermatitis, Hypo... |
OMIM:188400 |
| Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Pallor of dorsal columns of the spinal cord, Atrophy of the spinal cord, Degeneration of anterior... |
OMIM:602433 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Recurrent otitis media, Recurrent pharyngitis, Recurrent bronchitis, Abnormal lymphocyte morpholo... |
ORPHA:293978 |
| Pyruvate Dehydrogenase E3 Deficiency |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Spasticity, Failure to thr... |
ORPHA:2394 |
| 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Decreased circulating carnitine concentration, Seborrheic dermatitis, Hyperleucinemia, Failure to... |
OMIM:210210 |
| Malignant Peritoneal Mesothelioma |
|
Peritonitis, Ascites, Weight loss |
ORPHA:168811 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Prolonged prothrombin time, Congestive heart failure, Abnormal bleeding, Recurrent pneumonia, Thr... |
OMIM:616271 |
| Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Respiratory failure, Vocal cord paresis, Intercostal muscle weakness, Distal sensory impairment |
OMIM:606071 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Iron deficiency anemia, Hypocalcemia, Tooth abscess, Hypophosphatemia, Elevated circulating alkal... |
ORPHA:89937 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:301040 |
| Hereditary Orotic Aciduria |
|
Recurrent respiratory infections, Anemia, Splenomegaly, Impaired T cell function |
ORPHA:30 |
| Bile Acid Conjugation Defect 1 |
|
Jaundice, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated cir... |
OMIM:619232 |
| Immunodeficiency 27B |
|
Generalized lymphadenopathy |
OMIM:615978 |
| Hardikar Syndrome |
|
Decreased liver function, Elevated circulating hepatic transaminase concentration, Intrahepatic b... |
OMIM:301068 |
| Hyperzincemia With Functional Zinc Depletion |
|
Skin rash, Hepatomegaly |
OMIM:601979 |
| Hereditary Chronic Pancreatitis |
|
Jaundice, Elevated circulating C-reactive protein concentration, Abnormal circulating enzyme conc... |
ORPHA:676 |
| Dermatomyositis |
|
Elevated circulating hepatic transaminase concentration, Skin rash, Sinus tachycardia, Pericardit... |
ORPHA:221 |
| Immunodeficiency 13 |
|
B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lympho... |
OMIM:615518 |
| Congenital Isolated Acth Deficiency |
|
Prolonged neonatal jaundice, Hyponatremia, Hepatitis |
ORPHA:199296 |
| Porphyria, Congenital Erythropoietic |
|
Jaundice, Hepatomegaly, Cholelithiasis, Elevated circulating uroporphyrin concentration, Thromboc... |
OMIM:263700 |
| Joubert Syndrome 8 |
|
Hypertonia, Hepatomegaly, Oculomotor apraxia, Prolonged neonatal jaundice, Obesity, Ataxia |
OMIM:612291 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Recurrent candida infections, Hepatomegaly, Impaired T cell function, Failure to thrive, Decrease... |
OMIM:201100 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Aplastic anemia, Purpura, Amegakaryocytic thrombocytopenia, Petechiae, Congenital thrombocytopenia |
OMIM:605432 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypocholesterolemia, Peric... |
OMIM:212065 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory insufficiency, Intraalveolar phospholipid accumulation, Nonspecific interstitial pneu... |
OMIM:610913 |
| Fanconi Anemia, Complementation Group C |
|
Anemia, Pancytopenia, Reticulocytopenia, Bone marrow hypocellularity, Thrombocytopenia, Bruising ... |
OMIM:227645 |
| Ichthyosis, Congenital, Autosomal Recessive 9 |
|
Erythroderma |
OMIM:615023 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:616439 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:616437 |
| Leukocyte Adhesion Deficiency |
|
Perianal abscess, Severe periodontitis, Impaired platelet aggregation, Sinusitis, Bone marrow hyp... |
ORPHA:2968 |
| Neuroblastoma, Susceptibility To, 1 |
|
Anemia, Hypertension, Abdominal mass, Failure to thrive, Weight loss |
OMIM:256700 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Torticollis, Tremor, Rigidity, Ataxia, Respiratory failure, Tetraparesis |
OMIM:617186 |
| Proximal Spinal Muscular Atrophy |
|
Difficulty walking, Inability to walk, Tongue fasciculations, Respiratory insufficiency due to mu... |
ORPHA:70 |
| Malignant Atrophic Papulosis |
|
Arteritis, Pain insensitivity, Peritonitis, Weight loss, Respiratory failure |
ORPHA:679 |
| Syndromic Diarrhea |
|
Cirrhosis, Hepatomegaly, Gastritis, Abnormality of iron homeostasis, Panhypogammaglobulinemia, Re... |
ORPHA:84064 |
| Complement Factor B Deficiency |
|
Recurrent meningococcal disease, Decreased circulating complement factor B concentration, Periton... |
OMIM:615561 |
| Ornithine Transcarbamylase Deficiency |
|
Hyperammonemia, Splenomegaly, Hepatic failure |
ORPHA:664 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Lipoatrophy, Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Secondary amenorrhea, Loss of subc... |
ORPHA:2348 |
| 22Q11.2 Deletion Syndrome |
|
Chronic otitis media, Cholelithiasis, Hypocalcemia, Seborrheic dermatitis, Arthritis, Abnormality... |
ORPHA:567 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Decreased liver function, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ... |
ORPHA:415 |
| Hyperlipoproteinemia, Type Id |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Pancreatitis, Increa... |
OMIM:615947 |
| Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Cachexia, Hemiplegia |
ORPHA:3217 |
| Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Respiratory failure requiring assisted ventilation, Fasciculations, Tetraplegia, Progressive spas... |
ORPHA:496641 |
| Diamond-Blackfan Anemia 1 |
|
Congestive heart failure, Elevated red cell adenosine deaminase activity, Macrocytic anemia, Incr... |
OMIM:105650 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Cachexia, Obesity, Tremor, Broad-based gait |
ORPHA:85293 |
| 16Q24.3 Microdeletion Syndrome |
|
Chronic otitis media, Increased mean corpuscular volume, Thrombocytopenia, Dilated cardiomyopathy... |
ORPHA:261250 |
| Oculogastrointestinal Muscular Dystrophy |
|
Cachexia |
ORPHA:1876 |
| Neuroleptic Malignant Syndrome |
|
Hyperkalemia, Pulmonary embolism, Elevated circulating hepatic transaminase concentration, Hyperu... |
ORPHA:94093 |
| Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Hepatomegaly, Mediastinal lymphadenopathy, Recurrent otitis media, Hilar lymph node enlargement, ... |
OMIM:620233 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Prolonged prothrombin time, Jaundice, Elevated circulating hepatic transaminase concentration, He... |
ORPHA:309854 |
| Febrile Infection-Related Epilepsy Syndrome |
|
Sinusitis, Autoimmunity |
ORPHA:163703 |
| Sheehan Syndrome |
|
Normochromic anemia, Hashimoto thyroiditis, Obesity, Hyponatremia, Antinuclear antibody positivit... |
ORPHA:91355 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Lymphopenia, P... |
OMIM:619767 |
| Glycogen Storage Disease Ii |
|
Hepatomegaly, Wolff-Parkinson-White syndrome, Increased circulating NT-proBNP concentration, Righ... |
OMIM:232300 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Failure to thrive, Anisocytosis, Hepatomegaly |
OMIM:604273 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Respiratory failure, Neonatal respiratory distress, Failure to thrive, Intraalveolar phospholipid... |
OMIM:265120 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Limb hypertonia, Fasciculations, Tremor, Exaggerated startle response, Respiratory failure |
OMIM:620327 |
| Maternal Uniparental Disomy Of Chromosome 6 |
|
Thrombocytopenia, Eczematoid dermatitis |
ORPHA:96181 |
| Pyomyositis |
|
Myositis, Leukocytosis, Weight loss, Recurrent cutaneous abscess formation, Sudden cardiac death |
ORPHA:764 |
| Acquired Hypertrichosis Lanuginosa |
|
Lymphadenopathy, Weight loss |
ORPHA:2221 |
| Niemann-Pick Disease, Type C1 |
|
Sea-blue histiocytosis, Hepatomegaly, Bone-marrow foam cells, Gait ataxia, Prolonged neonatal jau... |
OMIM:257220 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypertriglyceridemia, Enlarged kidney, Hepatocellular adenoma, Chronic neutropenia, Hyperlipidemi... |
ORPHA:79259 |
| Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hyperkalemia, Jaundice, Hepatomegaly, Splenomegaly, Conjugated hyperbilirubinemia, Stomatocytosis... |
OMIM:608885 |
| Antisynthetase Syndrome |
|
Myocarditis, Aortic regurgitation, Respiratory insufficiency, Arthritis, Skin rash, Myositis, Ele... |
ORPHA:81 |
| Trichohepatoenteric Syndrome 1 |
|
Cirrhosis, Jaundice, Hepatomegaly, Abnormality of iron homeostasis, Decreased circulating antibod... |
OMIM:222470 |
| Immunoglobulin A Vasculitis |
|
Arthritis, Skin rash, Episcleritis, Pustule, Orchitis, Infectious encephalitis |
ORPHA:761 |
| Transketolase Deficiency |
|
Seborrheic dermatitis, Hepatomegaly, Uveitis, Conjunctivitis |
ORPHA:488618 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Overweight, Increased size of nasopharyngeal adenoids, Persistence of hemoglobin F |
OMIM:619769 |
| Cardiomyopathy, Familial Restrictive, 6 |
|
Hepatic artery hyperplasia, Hepatomegaly, Portal vein hypoplasia, Ascites |
OMIM:619433 |
| Vacterl Association With Hydrocephalus |
|
Respiratory insufficiency, Respiratory failure |
OMIM:276950 |
| Mycosis Fungoides |
|
Lymphadenopathy |
OMIM:254400 |
| Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
Persistent human papillomavirus infection, Lymphopenia, Cryptococcal meningitis, T lymphocytopenia |
OMIM:618309 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal... |
OMIM:607626 |
| Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Mediastinal lymphadenopathy, Increased circulating antibody level, Pancytopenia, Ar... |
OMIM:181000 |
| Liver Disease, Severe Congenital |
|
Elevated circulating hepatic transaminase concentration, Lymphocytosis, Hypoproteinemia, Ascites,... |
OMIM:619991 |
| Neuroendocrine Tumor Of The Colon |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Melena, Chronic noninfecti... |
ORPHA:100080 |
| Erythrokeratodermia Variabilis |
|
Skin rash, Weight loss |
ORPHA:317 |
| Sarcoidosis |
|
Decreased liver function, Increased T cell count, Leukopenia, Erythema nodosum, Abnormal cardiac ... |
ORPHA:797 |
| Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Bradycardia, Cardiac arrest, Hypotension, Tachycardia, Respiratory failure |
ORPHA:70587 |
| Dyskeratosis Congenita |
|
Cirrhosis, Neoplasm of the pancreas, Anemia, Hepatomegaly, Periodontitis, Blepharitis, Bone marro... |
ORPHA:1775 |
| Holocarboxylase Synthetase Deficiency |
|
Hyperammonemia, Skin rash, Thrombocytopenia, Reduced holocarboxylase synthetase activity in cultu... |
OMIM:253270 |
| Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:602099 |
| Sandestig-Stefanova Syndrome |
|
Respiratory failure, Small for gestational age |
OMIM:618804 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Hepatomegaly, Decreased heart rate variability, Decreased body weight, Decreased hemoglobin conce... |
OMIM:619005 |
| Familial Mediterranean Fever |
|
Pancreatitis, Lymphadenopathy, Arthritis, Skin rash, Leukocytosis, Ascites, Pericarditis, Erysipe... |
ORPHA:342 |
| Glycogen Storage Disease Ib |
|
Enlarged kidney, Hepatomegaly, Pancreatitis, Elevated circulating hepatic transaminase concentrat... |
OMIM:232220 |
| Kearns-Sayre Syndrome |
|
Sideroblastic anemia, Arrhythmia, Cardiomyopathy, Third degree atrioventricular block |
OMIM:530000 |
| 19Q13.11 Microdeletion Syndrome |
|
Cachexia, Failure to thrive |
ORPHA:217346 |
| Microscopic Polyangiitis |
|
Congestive heart failure, Gastrointestinal hemorrhage, Pancreatitis, Vasculitis, Skin rash, Arthr... |
ORPHA:727 |
| Combined Oxidative Phosphorylation Deficiency 9 |
|
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Failure to thrive, Ele... |
OMIM:614582 |
| Lathosterolosis |
|
Anisopoikilocytosis, Intrahepatic cholestasis, Hepatomegaly, Failure to thrive, Thrombocytopenia,... |
ORPHA:46059 |
| Hsd10 Disease |
|
Choreoathetosis, Ataxia, Abnormal social behavior |
ORPHA:391417 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Cholestasis, Obesity, Splenomegaly, Hepatic fibrosis, Hepatic failure |
OMIM:615630 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Angina pectoris, Cachexia, Hashimoto thyroiditis, Intracranial hemorrhage, Subcutaneous hemorrhag... |
ORPHA:109 |
| Cryptococcosis |
|
Pneumonia, Prostatitis, Mediastinal lymphadenopathy, Cirrhosis, Peritonitis, Systemic lupus eryth... |
ORPHA:1546 |
| Apolipoprotein C-Ii Deficiency |
|
Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Increased circulating chylomicron concentration... |
OMIM:207750 |
| Lig4 Syndrome |
|
Acute leukemia, Hepatomegaly, Lymphadenopathy, Pancytopenia, Leukocytosis, Telangiectasia of the ... |
ORPHA:99812 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Myocardial infarction, Jaundice, Anemia, Reduced haptoglobin level, Pancytopenia, Hypertension, A... |
ORPHA:447 |
| Juvenile Dermatomyositis |
|
Calcinosis, Gastrointestinal hemorrhage, Elevated circulating C-reactive protein concentration, A... |
ORPHA:93672 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Increased mean platelet volume, Thrombocytopenia |
OMIM:300048 |
| Primary Lateral Sclerosis, Juvenile |
|
Abnormal upper motor neuron morphology |
OMIM:606353 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Concentric hypertrophic cardiomyopathy, Respiratory insufficiency, Hyperalaninemia,... |
OMIM:252010 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Cholestatic liver disease, Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Anemia, Lymphadenopathy... |
OMIM:619418 |
| Bickerstaff Brainstem Encephalitis |
|
Respiratory failure requiring assisted ventilation, Babinski sign, Impaired proprioception, Pneum... |
ORPHA:79138 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Erythroderma, Failure to thrive, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol |
OMIM:302960 |
| Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hepatomegaly, Anemia, Failure to thrive, Hypercalcemia, Hypophosphatemia, Splenomegaly |
OMIM:239200 |
| Acute Liver Failure |
|
Jaundice, Elevated circulating hepatic transaminase concentration, Skin rash, Hepatic periportal ... |
ORPHA:90062 |
| Cogan Syndrome |
|
Scleritis, Large vessel vasculitis, Anemia, Aortic regurgitation, Inflammatory abnormality of the... |
ORPHA:1467 |
| Neuroendocrine Tumor Of The Rectum |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Melena, Chronic noninfecti... |
ORPHA:100081 |
| Neuroendocrine Tumor Of Anal Canal |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Melena, Chronic noninfecti... |
ORPHA:100082 |
| Complement Factor I Deficiency |
|
Decreased circulating complement C3 concentration, Recurrent otitis media, Decreased circulating ... |
OMIM:610984 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Small for gestational age, Increased HbA2 hemoglobin, Decreased mean corpuscular volume |
OMIM:616943 |
| Leukocyte Adhesion Deficiency, Type I |
|
Elevated circulating C-reactive protein concentration, Periodontitis, Recurrent infections, Recta... |
OMIM:116920 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Recu... |
OMIM:613327 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Lymphadenopathy, Weight loss |
ORPHA:411703 |
| Cockayne Syndrome |
|
Hypertonia, Difficulty walking, Elevated circulating hepatic transaminase concentration, Inabilit... |
ORPHA:191 |
| Mercury Poisoning |
|
Respiratory failure, Tremor, Interstitial pneumonitis |
ORPHA:330021 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Congestive heart failure, Ischemic stroke, Prolonged QTc interval, Hypertension, Leukocytosis, Ce... |
ORPHA:90065 |
| 11Q22.2Q22.3 Microdeletion Syndrome |
|
Obesity, Abnormal social behavior |
ORPHA:444002 |
| Peritoneal Cystic Mesothelioma |
|
Peritonitis, Weight loss |
ORPHA:168816 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Reduced left ventricular ejection fraction, Periportal fibrosis, Decreased circulat... |
OMIM:201475 |
| Hypogonadism, Male |
|
Testicular atrophy, Male hypogonadism, Micropenis, Hypospadias |
OMIM:241100 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Jaundice, Methylmalonic acidemia, Hyperhomocystinemia, Stomatitis, Megaloblastic anemia, Elevated... |
ORPHA:79282 |
| Attrv30M Amyloidosis |
|
Cardiomyopathy, Atrioventricular block, Weight loss, Arrhythmia, Cardiomegaly |
ORPHA:85447 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Decreased liver function, Hepatomegaly, Anemia, Hypertrophic cardiomyopathy, Failure to thrive, R... |
ORPHA:436271 |
| Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Aplastic anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Hepatic fibrosis |
OMIM:224230 |
| Pancreatoblastoma |
|
Jaundice, Abnormal lymph node morphology, Pancreatic calcification, Weight loss |
ORPHA:677 |
| Asbestos Intoxication |
|
Respiratory failure, Right ventricular failure, Mediastinal lymphadenopathy, Hepatojugular reflux |
ORPHA:2302 |
| Uremic Pruritus |
|
Abnormal circulating cytokine concentration, Hypermagnesemia, Increased blood urea nitrogen, Hype... |
ORPHA:94059 |
| Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Erythroderma |
OMIM:612281 |
| Autosomal Dominant Optic Atrophy, Classic Form |
|
Macrocytic anemia |
ORPHA:98673 |
| Congenital Factor X Deficiency |
|
Prolonged prothrombin time, Spontaneous hematomas, Gastrointestinal hemorrhage, Post-partum hemor... |
ORPHA:328 |
| Silver-Russell Syndrome |
|
Cachexia, Obesity, Failure to thrive in infancy |
ORPHA:813 |
| Rasmussen Subacute Encephalitis |
|
Anti-dsDNA antibody positivity, Autoimmunity, Decreased circulating total IgA, Antinuclear antibo... |
ORPHA:1929 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Elevated circulating hepatic transaminase concentration, Recurrent lower respiratory tract infect... |
ORPHA:293987 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Hepatomegaly, Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Incr... |
ORPHA:508533 |
| Mannosidosis, Alpha B, Lysosomal |
|
Hepatomegaly, Reduced leukocyte alpha-mannosidase activity, Vacuolated lymphocytes, Decreased cir... |
OMIM:248500 |
| Central Diabetes Insipidus |
|
Failure to thrive, Hyponatremia, Weight loss |
ORPHA:178029 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Hepatomegaly, Vertebral compression fracture, Scoliosis, Central vertebral hypoplasia, Vertebral ... |
OMIM:602557 |
| Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Iritis, Malar rash, Skin rash, Oligoarthritis, Sacroiliac arthritis, Antinuclear antibody positiv... |
ORPHA:85436 |
| Kennedy Disease |
|
Abnormal circulating lipid concentration, Erectile dysfunction, Type II diabetes mellitus, Decrea... |
ORPHA:481 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Jaundice, Bradycardia, Failure to thrive, Respiratory arrest, Respiratory failure, Neutropenia |
OMIM:617248 |
| Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Hypotension, Tricuspid regurgitation, Facial... |
ORPHA:97287 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant |
|
Seborrheic dermatitis, Acne |
OMIM:167100 |
| Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Distal sensory impairment, Cachexia, Slender build, Weight loss, Hypoesthesia |
OMIM:603041 |
| Familial Pancreatic Carcinoma |
|
Jaundice, Lymphadenopathy, Peritoneal abscess, Hepatosplenomegaly, Exocrine pancreatic insufficie... |
ORPHA:1333 |
| Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Reduced tissue alpha-N-acetylglucosaminidase activity, Splenomegaly, Recurrent uppe... |
OMIM:252920 |
| Liposarcoma |
|
Weight loss, Paresthesia |
ORPHA:69078 |
| Imerslund-Grasbeck Syndrome 2 |
|
Recurrent urinary tract infections, Megaloblastic anemia, Anemia |
OMIM:618882 |
| Oculoskeletodental Syndrome |
|
Hepatomegaly, Hypocalcemia, Scoliosis, Elbow flexion contracture, Thoracic kyphosis, Hypothyroidi... |
OMIM:618440 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Hepatomegaly, Anemia, Pancytopenia, Abnormal circulating enzyme concentration or activity, Hypoca... |
ORPHA:2785 |
| Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Increased circulating antibody level |
OMIM:114065 |
| Diamond-Blackfan Anemia 10 |
|
Reticulocytopenia, Steroid-responsive anemia, Anemia, Macrocytic anemia |
OMIM:613309 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Large for gestational age, Cirrhosis, Hepatomegaly, Lower limb spasticity, Microvesicular hepatic... |
OMIM:300868 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility, Elevated circulating creatine kinase concentration |
OMIM:313200 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hyperkalemia, Jaundice, Hepatomegaly, Microvesicular hepatic steatosis, Cholestasis, Elevated cir... |
OMIM:618528 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Periodic paralysis, Tremor, Weight loss |
OMIM:613239 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Pneumonia, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Prolo... |
ORPHA:26793 |
| Metatropic Dysplasia |
|
Respiratory insufficiency, Respiratory failure |
OMIM:156530 |
| Fryns-Smeets-Thiry Syndrome |
|
Cachexia |
ORPHA:2058 |
| Primary Lateral Sclerosis |
|
Abnormal upper motor neuron morphology, Atrophy of the spinal cord, Cervical spinal cord atrophy |
ORPHA:35689 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Cardiomyopathy, Thrombocytopenia |
OMIM:617710 |
| Primary Hepatic Neuroendocrine Carcinoma |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Palpitations, Biliary trac... |
ORPHA:100085 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Respiratory failure, Respiratory insufficiency due to muscle weakness, Subdural hemorrhage |
OMIM:618291 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Abnormality of neutrophils, Hypochromic anemia |
ORPHA:2720 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Babinski sign, Broad-based gait, Respiratory insufficiency, Positive Romberg sign, Impaired dista... |
OMIM:607459 |
| Autoimmune Hypoparathyroidism |
|
Hypocalcemic seizures, Prolonged QT interval, Hypocalcemia, Chronic mucocutaneous candidiasis, Au... |
ORPHA:36913 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Hepatomegaly, Lymphadenopathy, Recurrent aphthous stomatitis, Arthritis, Increased circulating Ig... |
ORPHA:343 |
| Thoraco-Abdominal Enteric Duplication |
|
Respiratory insufficiency, Hepatomegaly |
ORPHA:1759 |
| Noonan Syndrome 4 |
|
Large for gestational age, Abnormal bleeding, Hypertrophic cardiomyopathy, Pulmonic stenosis, Thr... |
OMIM:610733 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Cholestasis, Ascites, Prolonged neonatal jaundice, Ataxia, Acute hepatic failure, Micronodular ci... |
OMIM:256810 |
| Juvenile Sialidosis Type 2 |
|
Hepatomegaly, Lower limb spasticity, Spasticity, Visceromegaly, Ataxia, Loss of ambulation, Hepat... |
ORPHA:93399 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Giant platelets, Anemia, Recurrent infections, Thrombocytopenia, Left ventricular hypertrophy, Fa... |
OMIM:611209 |
| Mgat2-Cdg |
|
Impaired lymphocyte transformation with phytohemagglutinin, Reduced level of N-acetylglucosaminyl... |
ORPHA:79329 |
| Medullary Thyroid Carcinoma |
|
Abnormal liver parenchyma morphology, Lymphadenopathy, Weight loss |
ORPHA:1332 |
| Mucopolysaccharidosis, Type Iiia |
|
Hepatomegaly, Inguinal hernia, Scoliosis, Ovoid thoracolumbar vertebrae, Splenomegaly, Umbilical ... |
OMIM:252900 |
| Recon Progeroid Syndrome |
|
Recurrent infections, Thrombocytopenia, Anemia, Keratoconjunctivitis sicca |
OMIM:620370 |
| Ivic Syndrome |
|
Thrombocytopenia, Leukocytosis, Arrhythmia |
ORPHA:2307 |
| Aicardi-Goutières Syndrome |
|
Panniculitis, Elevated circulating hepatic transaminase concentration, Chronic lymphatic leukemia... |
ORPHA:51 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Decreased liver function, Jaundice, Hepatomegaly, Recurrent infections, Respiratory insufficiency... |
OMIM:608779 |
| Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Respiratory failure, Hyponatremia, Failure to thrive, Small for gestational age |
OMIM:618252 |
| Alopecia Universalis |
|
Abnormal circulating lipid concentration, Hypertension, Atopic dermatitis, Autoimmunity, Psoriasi... |
ORPHA:701 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Hypoalbuminemia, Thrombocytopenia, Normochromic anemia |
OMIM:254900 |
| Colchicine Poisoning |
|
Myocarditis, Congestive heart failure, Hypokalemia, Hypocalcemia, Leukocytosis, Hypotension, Hypo... |
ORPHA:31824 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Respiratory failure |
ORPHA:98913 |
| Fanconi Anemia, Complementation Group D2 |
|
Annular pancreas, Anemia, Pancytopenia, Reticulocytopenia, Bone marrow hypocellularity, Thrombocy... |
OMIM:227646 |
| Combined Oxidative Phosphorylation Deficiency 3 |
|
Hepatomegaly, Respiratory insufficiency, Tremor, Ataxia, Respiratory failure |
OMIM:610505 |
| Fibrodysplasia Ossificans Progressiva |
|
Respiratory insufficiency, Respiratory failure |
OMIM:135100 |
| Anaplastic Thyroid Carcinoma |
|
Lymphadenopathy, Weight loss |
ORPHA:142 |
| Gm1-Gangliosidosis, Type Ii |
|
Sea-blue histiocytosis, Hepatomegaly, Failure to thrive, Ataxia, Splenomegaly |
OMIM:230600 |
| Mpi-Cdg |
|
Decreased liver function, Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Failure... |
ORPHA:79319 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Respiratory insufficiency, Left ventricular outflow tract obstruction, Vasculitis, ... |
ORPHA:365 |
| Congenital Disorder Of Glycosylation, Type Iit |
|
Decreased serum creatinine, Decreased HDL cholesterol concentration, Iron deficiency anemia, Hypo... |
OMIM:618885 |
| Diamond-Blackfan Anemia 21 |
|
Anemia, Aortic regurgitation, Erythroid hypoplasia, Obesity, Thrombocytopenia |
OMIM:620072 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Abnormal motor neuron morphology, Hepatic steatosis, Amyotrophic lateral sclerosis |
ORPHA:52430 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Hypocalcemia, Failure to thrive, Decreased circulating IgG level, Recurrent pneumonia, Decreased ... |
OMIM:607143 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Reduced left ventricular ejection fraction, Respiratory insufficiency, Myositis, Decreased body w... |
ORPHA:258 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Gastrointestinal inflammation, Pneumonia, Anemia, Pyoderma, Bradycardia, Failure to thrive, Recur... |
ORPHA:79404 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Enlarged kidney, Hepatomegaly, Cholestasis, Hypertrophic cardiomyopathy, Asplenia, Pulmonic steno... |
OMIM:615415 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Hypophosphatemic rickets, Anemia, Elevated circulating creatine kinase concentration, Thrombocyto... |
OMIM:619743 |
| Acquired Generalized Lipodystrophy |
|
Hypertriglyceridemia, Abnormal circulating lipid concentration, Cirrhosis, Hepatomegaly, Pannicul... |
ORPHA:79086 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Inguinal hernia, Abnormal fallopian tube morphology, Hypocalcemia, Pancreatic lymph... |
ORPHA:1655 |
| Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies |
|
Recurrent otitis media, Anemia, Pancytopenia, Obesity, Thrombocytopenia, Leukopenia, Lymphopenia,... |
OMIM:620654 |
| Aarskog-Scott Syndrome |
|
Delayed puberty, Inguinal hernia, Scoliosis, Testicular atrophy, Bilateral cryptorchidism, Failur... |
OMIM:305400 |
| Revesz Syndrome |
|
Aplastic anemia, Bone marrow hypocellularity, Macrocytic anemia, Neutropenia |
OMIM:268130 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Lipoatrophy, Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Pancrea... |
ORPHA:280365 |
| Anal Fistula |
|
Leukocytosis, Pruritus |
ORPHA:228113 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Respiratory failure, Hypertonia, Exaggerated startle response, Clonus |
OMIM:617301 |
| Parkinson Disease 4, Autosomal Dominant |
|
Parkinsonism, Weight loss |
OMIM:605543 |
| Pediatric Hepatocellular Carcinoma |
|
Portal vein thrombosis, Hepatic fibrosis, Hepatomegaly, Hepatic necrosis |
ORPHA:33402 |
| Adams-Oliver Syndrome 6 |
|
Tricuspid regurgitation, Hepatic fibrosis, Splenomegaly, Portal hypertension |
OMIM:616589 |
| Hermansky-Pudlak Syndrome 10 |
|
Recurrent respiratory infections, Hepatomegaly, Splenomegaly, Neutropenia |
OMIM:617050 |
| 3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Hyposerinemia, Megaloblastic anemia, Esophagitis, Hypoglycinemia, Failure to thrive |
ORPHA:79351 |
| Say-Barber-Miller Syndrome |
|
Abnormal T cell morphology, Panniculitis, Decreased circulating antibody level, Eczematoid dermat... |
ORPHA:3132 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory failure |
ORPHA:2759 |
| Braddock-Carey Syndrome 1 |
|
Thrombocytopenia |
OMIM:619980 |
| Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Hypercalcemia, Weight loss |
OMIM:143880 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Limb ataxia, Truncal ataxia, Persistence of hemoglobin F |
OMIM:617101 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat... |
OMIM:308700 |
| Polyarteritis Nodosa |
|
Pericarditis, Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:767 |
| Cap Polyposis |
|
Weight loss, Atrophic gastritis |
ORPHA:160148 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Difficulty walking, Hyperkinetic movements, Inability to walk, Elevated circulating hepatic trans... |
OMIM:615356 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Periodic paralysis, Weight loss |
OMIM:188580 |
| Gm1-Gangliosidosis, Type I |
|
Congestive heart failure, Hepatomegaly, Vacuolated lymphocytes, Hypertrophic cardiomyopathy, Sple... |
OMIM:230500 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Intraalveolar phospholipid accumulation, Nonspecific interstitial pneumonia, Failure to thrive, R... |
OMIM:610921 |
| Pemphigus Erythematosus |
|
Malar rash, Antinuclear antibody positivity, Systemic lupus erythematosus, Anti-acetylcholine rec... |
ORPHA:79480 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Cirrhosis, Hepatomegaly, Lymphangiectasis, Abnormal bleeding, Failure to thrive, Hypoalbuminemia,... |
OMIM:602579 |
| Chanarin-Dorfman Syndrome |
|
Hepatic steatosis, Hepatomegaly, Ataxia |
OMIM:275630 |
| Geleophysic Dysplasia 3 |
|
Pneumonia, Respiratory failure, Hepatomegaly |
OMIM:617809 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105550 |
| Opsismodysplasia |
|
Respiratory insufficiency, Recurrent respiratory infections, Hepatomegaly, Splenomegaly |
ORPHA:2746 |
| Autoimmune Pulmonary Alveolar Proteinosis |
|
Intraalveolar phospholipid accumulation, Autoimmune antibody positivity, Weight loss, Abnormal ci... |
ORPHA:747 |
| 21Q22.11Q22.12 Microdeletion Syndrome |
|
Failure to thrive in infancy, Thrombocytopenia, Recurrent otitis media, Anemia |
ORPHA:261323 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Bradycardia, Cardiomyopath... |
OMIM:212138 |
| Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Broad-based gait, Seborrheic dermatitis, Eczematoid dermatitis, Failure to thrive, Hemiparesis, O... |
ORPHA:369950 |
| Scheie Syndrome |
|
Rhinitis, Hepatomegaly, Splenomegaly, Aortic regurgitation |
ORPHA:93474 |
| Hereditary Central Diabetes Insipidus |
|
Weight loss |
ORPHA:30925 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory failure, Recurrent otitis media, Brain abscess |
OMIM:616482 |
| Meige Disease |
|
Atypical scarring of skin, Absence of lymph node germinal center, Cellulitis, Lymph node hypoplasia |
ORPHA:90186 |
| Progressive Multifocal Leukoencephalopathy |
|
Abnormal proportion of CD4-positive T cells, Decreased proportion of CD8-positive T cells, Mening... |
ORPHA:217260 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Anemia, Respiratory insufficiency, Hypocalcemia, Hyperbilirubinemia, Thrombocytopenia, Intracrani... |
ORPHA:163979 |
| Hennekam Syndrome |
|
Lymphadenopathy, Respiratory insufficiency, Hypocalcemia, Decreased circulating antibody level, A... |
ORPHA:2136 |
| Wild Type Attr Amyloidosis |
|
Congestive heart failure, Hepatomegaly, Bradycardia, Atrial fibrillation, Hypertrophic cardiomyop... |
ORPHA:330001 |
| Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia |
OMIM:309120 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Erythroderma |
ORPHA:35173 |
| Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Hepatomegaly, Abnormal cardiovascular system physiology, Elevated jugular venous pressure, Pulmon... |
ORPHA:422 |
| Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory failure, Failure to thrive |
ORPHA:2707 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Card... |
ORPHA:98907 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Inguinal hernia, Hypocalcemia, Pancreatic lymphangiectasis, Hypoproteinemia, Ascite... |
OMIM:235255 |
| Pulmonary Alveolar Microlithiasis |
|
Hepatomegaly, Respiratory insufficiency, Increased circulating surfactant protein level, Right ve... |
ORPHA:60025 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Enlarged kidney, Hyperechogenic pancreas, Cirrhosis, Hepatomegaly, Cholestasis, Biliary cirrhosis... |
OMIM:208540 |
| Arthrogryposis Multiplex Congenita 5 |
|
Normocytic anemia, Cardiac arrest, Poikilocytosis, Neonatal respiratory distress, Acanthocytosis |
OMIM:618947 |
| Reactive Arthritis |
|
Recurrent aphthous stomatitis, Respiratory insufficiency, Arthritis, Pericarditis, Pustule, Infla... |
ORPHA:29207 |
| Fatal Familial Insomnia |
|
Ataxia, Weight loss, Myoclonus |
OMIM:600072 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal upper motor neuron morphology, Abnormal lower motor neuron morphology |
ORPHA:275872 |
| Down Syndrome |
|
Leukemia, Abnormality of the lymphatic system, Blepharitis, Polycythemia, Neutrophilia, Thrombocy... |
ORPHA:870 |
| Schwartz-Jampel Syndrome |
|
Hypertonia, Respiratory insufficiency, Cachexia, Decreased body weight, Blepharospasm, Gait distu... |
ORPHA:800 |
| Urban-Rogers-Meyer Syndrome |
|
Obesity, Increased circulating IgE level |
ORPHA:3409 |
| Thymic Carcinoma |
|
Diaphragmatic paralysis, Weight loss |
ORPHA:99868 |
| Non-Functioning Paraganglioma |
|
Congestive heart failure, Hypertension associated with pheochromocytoma, Sinus tachycardia, Hyper... |
ORPHA:94080 |
| Squamous Cell Carcinoma Of The Anal Canal |
|
Neoplasm of the liver, Lymphadenopathy |
ORPHA:424019 |
| Mucopolysaccharidosis Type 6 |
|
Kyphosis, Failure to thrive, Ovoid vertebral bodies, Splenomegaly, Short neck, Hernia |
ORPHA:583 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Seborrheic dermatitis, Arthritis, Eczematoid dermatitis |
OMIM:259100 |
| Urachal Cyst |
|
Elevated circulating C-reactive protein concentration, Leukocytosis, Abdominal mass, Peritonitis,... |
ORPHA:488 |
| Secondary Non-Traumatic Avascular Necrosis |
|
Rheumatoid arthritis, Autoimmunity, Systemic lupus erythematosus |
ORPHA:399180 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Pneumonia, Respiratory failure |
ORPHA:98905 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Polycythemia, Methemoglobinemia |
OMIM:250800 |
| Pulmonary Alveolar Proteinosis, Acquired |
|
Lung abscess, Intraalveolar phospholipid accumulation, Anti-granulocyte-macrophage colony stimula... |
OMIM:610910 |
| Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Decreased proporti... |
OMIM:617237 |
| Dubin-Johnson Syndrome |
|
Abnormality of the liver, Biliary tract abnormality, Jaundice, Hepatomegaly |
ORPHA:234 |
| Argininemia |
|
Hepatomegaly, Portal fibrosis, Reduced erythrocyte arginase activity, Cholestasis, Hyperargininem... |
OMIM:207800 |
| Adiposis Dolorosa |
|
Arthritis, Obesity, Telangiectasia of the skin, Bruising susceptibility, Recurrent skin infection... |
ORPHA:36397 |
| Carney Triad |
|
Ascites, Mediastinal lymphadenopathy, Anemia, Lymphadenopathy |
ORPHA:139411 |
| Chromosome 15Q25 Deletion Syndrome |
|
Polysplenia, Macrocytic anemia |
OMIM:614294 |
| Lesch-Nyhan Syndrome |
|
Megaloblastic anemia, Podagra, Hyperuricemia |
OMIM:300322 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory failure |
OMIM:617895 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... |
OMIM:308750 |
| Citrullinemia Type Ii |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Pancreatitis, Elevat... |
ORPHA:247585 |
| Thyroid Lymphoma |
|
Lymphadenopathy |
ORPHA:97285 |
| Joubert Syndrome 21 |
|
Respiratory failure, Splenomegaly, Chronic sinusitis |
OMIM:615636 |
| Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Iron deficiency anemia, Biliary tract abnormality, Intestinal bleeding,... |
OMIM:175200 |
| Dubowitz Syndrome |
|
Anemia, Recurrent infections, Respiratory insufficiency, Eczematoid dermatitis, Acute lymphoblast... |
ORPHA:235 |
| Relapsing Polychondritis |
|
Myocarditis, Recurrent aphthous stomatitis, Inflammatory abnormality of the eye, Arthritis, Episc... |
ORPHA:728 |
| Deeah Syndrome |
|
Hepatomegaly, Decreased heart rate variability, Decreased body weight, Decreased hemoglobin conce... |
OMIM:619004 |
| Gitelman Syndrome |
|
Hypermagnesemia, Neoplasm of the pancreas, Prolonged QT interval, Iron deficiency anemia, Hypokal... |
ORPHA:358 |
| Hyperlipoproteinemia, Type I |
|
Lactescent serum, Jaundice, Increased circulating chylomicron concentration, Acute pancreatitis, ... |
OMIM:238600 |
| Pancreatic Triacylglycerol Lipase Deficiency |
|
Iron deficiency anemia, Exocrine pancreatic insufficiency, Weight loss, Keratoconjunctivitis sicc... |
ORPHA:309031 |
| Gallbladder Neuroendocrine Tumor |
|
Biliary tract obstruction, Intermittent jaundice, Ascites, Biliary tract neoplasm, Weight loss, C... |
ORPHA:100086 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Respiratory failure, Elevated circulating creatine kinase concentration |
OMIM:616538 |
| Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Chronic oral candidiasis, Recurrent Staphylococcus aureus infections, Skin rash, Chronic mucocuta... |
OMIM:147060 |
| Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Respiratory failure requiring assisted ventilation, Decreased liver function, Hypernatremia, Thro... |
OMIM:620423 |
| Glutaric Acidemia I |
|
Hepatomegaly, Failure to thrive, Rigidity, Opisthotonus, Choreoathetosis, Spastic diplegia |
OMIM:231670 |
| Neutral Lipid Storage Disease With Myopathy |
|
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chro... |
OMIM:610717 |
| Fucosidosis |
|
Beaking of vertebral bodies, Anterior beaking of thoracic vertebrae, Hepatomegaly, Anterior beaki... |
OMIM:230000 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hematemesis, Enlarged kidney, Hepatomegaly, Periportal fibrosis, Hypertension, Portal hypertensio... |
OMIM:263200 |
| 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Reduced HMG-CoA lyase activity in cultured fibroblasts, Hepatomegaly, Anemia, Hyperuricemia, Decr... |
OMIM:246450 |
| Boucher-Neuhauser Syndrome |
|
Abnormal upper motor neuron morphology |
OMIM:215470 |
| Tropical Pancreatitis |
|
Jaundice, Abnormal pancreatic duct morphology, Pancreatic calcification, Weight loss, Pancreatic ... |
ORPHA:103918 |
| Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Abnormal circulating eicosanoid concentration, Iron deficiency anemia, Impaired platelet aggregat... |
OMIM:618372 |
| Myotonic Dystrophy 2 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Elevated circulating creatine k... |
OMIM:602668 |
| Graves Disease |
|
Abnormal abdomen morphology, Weight loss |
OMIM:275000 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Retinal telangiectasia, Anemia, Gastrointestinal telangiectasia, Bone marrow hypocellularity, Thr... |
OMIM:612199 |
| Renal Nutcracker Syndrome |
|
Anemia, Orthostatic hypotension, Tachycardia, Weight loss, Syncope |
ORPHA:71273 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Lymphadenopathy, Pancreatic hypoplasia, Pulmonary arterial hypertension, Episclerit... |
OMIM:602782 |
| Blau Syndrome |
|
Large vessel vasculitis, Anemia, Lymphadenopathy, Erythema nodosum, Skin rash, Hypertension, Post... |
ORPHA:90340 |
| Limited Cutaneous Systemic Sclerosis |
|
Autoimmunity, Mucosal telangiectasiae, Telangiectasia of the skin, Pulmonary arterial hypertension |
ORPHA:220402 |
| Erdheim-Chester Disease |
|
Congestive heart failure, Anemia, Skin rash, Weight loss, Retroperitoneal fibrosis, Osteomyelitis |
ORPHA:35687 |
| Complete Atrioventricular Septal Defect |
|
Elevated pulmonary artery pressure, Congestive heart failure, Hepatomegaly, Third heart sound, Ta... |
ORPHA:1329 |
| Progressive Non-Fluent Aphasia |
|
Abnormal lower motor neuron morphology |
ORPHA:100070 |
| Atelis Syndrome 2 |
|
Anemia, Supravalvar pulmonary stenosis, Pulmonic stenosis, Thrombocytopenia, Vitreous hemorrhage |
OMIM:620185 |
| Gaucher Disease, Type Iiic |
|
Hepatomegaly, Pancytopenia, Mitral stenosis, Splenomegaly, Cardiomegaly |
OMIM:231005 |
| Non-Functioning Pituitary Adenoma |
|
Anemia of inadequate production, Hypotension |
ORPHA:91349 |
| Pituitary Apoplexy |
|
Hyponatremia, Hypertension, Hypotension, Normochromic anemia |
ORPHA:95613 |
| Glycogen Storage Disease Ic |
|
Hepatomegaly, Chronic pancreatitis, Hyperuricemia, Stomatitis, Spider hemangioma, Hepatocellular ... |
OMIM:232240 |
| Lethal Acantholytic Erosive Disorder |
|
Cardiomyopathy, Hypovolemic shock, Impaired myocardial contractility, Cardiomegaly, Respiratory f... |
ORPHA:158687 |
| Arterial Tortuosity Syndrome |
|
Myocarditis, Congestive heart failure, Hypertension, Cardiac arrest, Esophagitis, Hypertrophic ca... |
ORPHA:3342 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Hypertriglyceridemia, Clitoral hypertrophy, Elevated hemoglobin A1c, Splenomegaly, Umbilical hern... |
OMIM:269700 |
| Spinocerebellar Ataxia 32 |
|
Infertility, Testicular atrophy, Azoospermia |
OMIM:613909 |
| Adams-Oliver Syndrome 5 |
|
Pulmonary arterial hypertension, Portal vein thrombosis, Pulmonic stenosis, Splenomegaly, Right v... |
OMIM:616028 |
| Trisomy 18 |
|
Cachexia, Hypertonia |
ORPHA:3380 |
| Hirschsprung Disease |
|
Failure to thrive in infancy, Weight loss |
ORPHA:388 |
| Spinocerebellar Ataxia Type 32 |
|
Male infertility, Testicular atrophy, Azoospermia |
ORPHA:276183 |
| Goodpasture Syndrome |
|
Anti-glomerular basement membrane-antibody positivity, Anemia, Anti-myeloperoxidase antibody posi... |
OMIM:233450 |
| Bronchiolitis Obliterans |
|
Bronchiectasis, Autoimmunity, Pneumonia |
ORPHA:1303 |
| Severe Congenital Nemaline Myopathy |
|
Respiratory failure |
ORPHA:171430 |
| Ectodermal Dysplasia And Immunodeficiency 2 |
|
Hepatomegaly, Defective production of NFKB1-dependent cytokines, Failure to thrive, Recurrent inf... |
OMIM:612132 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Clitoral hypertrophy, Decreased fertility in femal... |
OMIM:608594 |
| Polyglucosan Body Neuropathy, Adult Form |
|
Abnormal upper motor neuron morphology |
OMIM:263570 |
| Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Bruising susceptibility, Thrombocytopenia, Arterial rupture |
OMIM:612394 |
| Familial Tumoral Calcinosis |
|
Skin rash, Hepatomegaly, Splenomegaly |
ORPHA:53715 |
| Mucolipidosis Type Ii |
|
Respiratory failure requiring assisted ventilation, Pulmonary insufficiency, Aortic regurgitation... |
ORPHA:576 |
| Hereditary Late-Onset Parkinson Disease |
|
Bradykinesia, Akinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medi... |
ORPHA:411602 |
| Cirrhosis, Familial |
|
Cirrhosis, Jaundice, Increased level of propylene glycol in blood, Fulminant hepatitis, Ascites, ... |
OMIM:215600 |
| Disabling Pansclerotic Morphea Of Childhood |
|
Neutropenia, Lymphopenia |
OMIM:620443 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Abnormal upper motor neuron morphology |
OMIM:221770 |
| Giant Cell Arteritis |
|
Mediastinal lymphadenopathy, Vasculitis, Arthritis, Cerebral ischemia, Pericarditis, Epistaxis, W... |
ORPHA:397 |
| Amyotrophic Lateral Sclerosis 21 |
|
Abnormal upper motor neuron morphology, Abnormal lower motor neuron morphology, Amyotrophic later... |
OMIM:606070 |
| Hermansky-Pudlak Syndrome |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Cardiomyopathy, Epistaxis, Weight loss, Bruising ... |
ORPHA:79430 |
| Dubowitz Syndrome |
|
Aplastic anemia, Recurrent infections, Eczematoid dermatitis, Decreased circulating IgG level, Ac... |
OMIM:223370 |
| Oromandibular Dystonia |
|
Hyperkinetic movements, Blepharospasm, Torticollis, Weight loss |
ORPHA:93958 |
| Dyskeratosis Congenita, X-Linked |
|
Cirrhosis, Anemia, Acute myeloid leukemia, Pancytopenia, Blepharitis, Bone marrow hypocellularity... |
OMIM:305000 |
| Gorham-Stout Disease |
|
Elevated alkaline phosphatase of bone origin, Lymphangioma, Meningitis, Osteomyelitis |
ORPHA:73 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Anemia, Lymphadenopathy, Hypocalcemia, Pulmonary arterial hypertension, Chronic rhi... |
ORPHA:667 |
| Type 1 Diabetes Mellitus |
|
Autoimmunity, Decreased level of 1,5 anhydroglucitol in serum |
OMIM:222100 |
| Hepatoerythropoietic Porphyria |
|
Abnormal bleeding, Keratoconjunctivitis, Recurrent bacterial skin infections, Abnormal circulatin... |
ORPHA:95159 |
| Thymic Neuroendocrine Tumor |
|
Mediastinal lymphadenopathy, Pancreatic islet cell adenoma, Neoplasm of the thymus, Chronic nonin... |
ORPHA:97289 |
| Alport Syndrome 1, X-Linked |
|
Hypertension, Thrombocytopenia, Nephritis |
OMIM:301050 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Congenital diaphragmatic hernia, Testicular atrophy, Omphalocele |
OMIM:601163 |
| Plague |
|
Hematemesis, Abnormal bleeding, Hepatomegaly, Carbuncle, Inflammatory abnormality of the eye, Acu... |
ORPHA:707 |
| Congenital Tufting Enteropathy |
|
Cholestatic liver disease, Arthritis, Punctate keratitis, Failure to thrive, Weight loss |
ORPHA:92050 |
| Exercise-Induced Malignant Hyperthermia |
|
Decreased liver function, Hyperkalemia, Abnormal bleeding, Abnormal T-wave, Prolonged QT interval... |
ORPHA:466650 |
| Ivic Syndrome |
|
Thrombocytopenia, Leukocytosis |
OMIM:147750 |
| Takenouchi-Kosaki Syndrome |
|
Recurrent infections, Increased mean platelet volume, Thrombocytopenia |
OMIM:616737 |
| Fanconi Anemia, Complementation Group B |
|
Aplastic anemia, Thrombocytopenia |
OMIM:300514 |
| Meckel Syndrome, Type 3 |
|
Hepatic fibrosis, Hepatomegaly, Malformation of the hepatic ductal plate, Bile duct proliferation |
OMIM:607361 |
| Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Spinal dysraphism, Tethered cord, Splenomegaly |
OMIM:612918 |
| Degcags Syndrome |
|
Hepatomegaly, Anemia, Iron deficiency anemia, Pancytopenia, Recurrent infections, Recurrent urina... |
OMIM:619488 |
| Lethal Congenital Contracture Syndrome 1 |
|
Paucity of anterior horn motor neurons |
OMIM:253310 |
| Vici Syndrome |
|
Decreased circulating IgG level, Decreased circulating IgG2 level |
ORPHA:1493 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Thrombocytopenia, High nonceruloplasmin-bound serum copper |
ORPHA:457351 |
| Encephalitis Lethargica |
|
Autoimmunity, Increased circulating antibody level |
ORPHA:83600 |
| Myotonic Dystrophy 1 |
|
Hypogonadism, Testicular atrophy, Cholelithiasis |
OMIM:160900 |
| Seckel Syndrome |
|
Cachexia |
ORPHA:808 |
| Alopecia Totalis |
|
Autoimmunity, Inflammation of the large intestine |
ORPHA:700 |
| Icf Syndrome |
|
Abnormality of neutrophils, Anemia, Lymphopenia |
ORPHA:2268 |
| Secondary Short Bowel Syndrome |
|
Cholestasis, Enterocolitis, Failure to thrive, Weight loss, Abnormal blood ion concentration, Low... |
ORPHA:95427 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Autoimmunity, Hyponatremia, Hypotension |
ORPHA:91354 |
| Scleromyxedema |
|
Elevated circulating creatine kinase concentration, Pruritus, Paraproteinemia |
ORPHA:167635 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Aspiration pneumonia, Failure to thrive, Respiratory insufficiency due to muscle weakness, Weight... |
ORPHA:2020 |
| Acquired Central Diabetes Insipidus |
|
Weight loss |
ORPHA:95626 |
| Isolated Osteopoikilosis |
|
Autoimmunity, Discoid lupus rash |
ORPHA:166119 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Abnormality of the lymphatic system, Enlarged kidney, Telangiectasia of the skin, Seborrheic derm... |
ORPHA:276280 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Tongue telangiectasia, Hematemesis, Nail bed telangiectasia, Spontaneous, recurrent epistaxis, Na... |
OMIM:600376 |
| Familial Colorectal Cancer Type X |
|
Hypertonia, Neoplasm of the pancreas, Hepatocellular carcinoma, Gait disturbance, Hemiplegia/hemi... |
ORPHA:440437 |
| Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Thrombocytopenia, Abnormal circulating enzyme concentration or activity |
ORPHA:572798 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Bronchiectasis, Weight loss |
ORPHA:79127 |
| Melkersson-Rosenthal Syndrome |
|
Lymphadenopathy |
ORPHA:2483 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Jaundice, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Hypokalemia, Rec... |
OMIM:613095 |
| Bone Marrow Failure Syndrome 5 |
|
Anemia, Erythroid hypoplasia, Pure red cell aplasia, Hypogonadism, Testicular atrophy |
OMIM:618165 |
| Viss Syndrome |
|
Increased circulating IgG level, Chronic gastritis, Increased circulating IgE level, Atopic derma... |
OMIM:619472 |
| Glossopharyngeal Neuralgia |
|
Bradycardia, Jaw claudication, Weight loss, Syncope, Autoimmunity |
ORPHA:221098 |
| Lymphatic Filariasis |
|
Lymphangiectasis, Lymphadenopathy, Abnormality of the lymphatic system, Lymphadenitis, Hypereosin... |
ORPHA:2035 |
| Proteus Syndrome |
|
Enlarged kidney, Recurrent infections, Cachexia, Enlarged polycystic ovaries, Neoplasm of the thy... |
ORPHA:744 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Cachexia |
ORPHA:1969 |
| Glucose-Galactose Malabsorption |
|
Failure to thrive, Hypercalcemia, Weight loss, Hypernatremia |
ORPHA:35710 |
| Citrullinemia, Classic |
|
Failure to thrive, Cirrhosis, Hepatomegaly, Ataxia |
OMIM:215700 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Annular pancreas, Eczematoid dermatitis, Decreased circulating total IgM, Elevated circulating al... |
OMIM:618162 |
| Fraser Syndrome 2 |
|
Respiratory failure, Hypoplasia of the thymus |
OMIM:617666 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
| Ogden Syndrome |
|
Enlarged kidney, Jaundice, Macrovesicular hepatic steatosis, Iron deficiency anemia, Recurrent ot... |
OMIM:300855 |
| Acrodermatitis Enteropathica |
|
Cheilitis, Failure to thrive, Pustule, Blepharitis, Weight loss, Conjunctivitis |
ORPHA:37 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Tongue telangiectasia, Hematemesis, Nail bed telangiectasia, Gastrointestinal hemorrhage, Spontan... |
OMIM:187300 |
| African Trypanosomiasis |
|
Fasciculations, Optic neuritis, Pericarditis, Splenomegaly, Myocarditis, Impaired proprioception,... |
ORPHA:3385 |
| Cardiogenic Shock |
|
Congestive heart failure, Hepatomegaly, Abnormal left ventricular function, Low-output congestive... |
ORPHA:97292 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Hypertonia, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Micr... |
OMIM:203700 |
| Marfan Syndrome |
|
Congestive heart failure, Abnormal left ventricular function, Aortic regurgitation, Cachexia, Sle... |
ORPHA:558 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Abnormal social behavior |
ORPHA:101039 |
| Cystic Fibrosis |
|
Cirrhosis, Hepatomegaly, Pancreatitis, Biliary cirrhosis, Recurrent bronchopulmonary infections, ... |
OMIM:219700 |
| Jacobsen Syndrome |
|
Failure to thrive, Recurrent respiratory infections, Thrombocytopenia, Annular pancreas |
OMIM:147791 |
| Trisomy X |
|
Autoimmunity |
ORPHA:3375 |
| Osteosarcoma |
|
Weight loss |
ORPHA:668 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Thrombocytopenia |
ORPHA:3320 |
| Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory failure, Subdural hemorrhage, Cerebral hemorrhage |
OMIM:620278 |
| Fanconi Anemia |
|
Anemia, Recurrent urinary tract infections, Thrombocytopenia, Leukopenia, Weight loss, Abnormalit... |
ORPHA:84 |
| Sjogren Syndrome |
|
Rheumatoid arthritis, Autoimmunity, Tubulointerstitial nephritis, Keratoconjunctivitis sicca |
OMIM:270150 |
| Solitary Fibrous Tumor |
|
Pelvic mass, Hypophosphatemic rickets, Abnormal peritoneum morphology, Weight loss, Neoplasm of t... |
ORPHA:2126 |
| Dysbetalipoproteinemia |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypercholesterolemia... |
ORPHA:412 |
| Myhre Syndrome |
|
Respiratory insufficiency, Obesity, Ataxia, Respiratory failure, Small for gestational age |
OMIM:139210 |
| Lamb-Shaffer Syndrome |
|
Ataxia, Abnormal social behavior |
ORPHA:530983 |
| Occipital Horn Syndrome |
|
Jaundice, Recurrent urinary tract infections, Cholestasis, Esophagitis, Hepatitis |
ORPHA:198 |
| Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Abnormal upper motor neuron morphology, Abnormal lower motor neuron morphology, Amyotrophic later... |
OMIM:205100 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Purpura, Acne, Abnormal lymph node morphology, Pancreatic adenocarcinoma, Decreased eosinophil co... |
ORPHA:99889 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Chronic otitis media, Cheilitis, Anemia, Hypokalemia, Periodontitis, Respiratory insufficiency, A... |
ORPHA:534 |
| Stickler Syndrome |
|
Chronic otitis media, Cachexia, Hemiplegia/hemiparesis, Slender build, Osteoarthritis, Uveitis |
ORPHA:828 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Gastrointestinal inflammation, Anemia, Iron deficiency anemia, Decreased serum zinc, Dilated card... |
ORPHA:79408 |
| Jacobsen Syndrome |
|
Annular pancreas, Eczematoid dermatitis, Bone marrow hypocellularity, Thrombocytopenia, Recurrent... |
ORPHA:2308 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hand tremor, Small for gestational age, Weight loss |
ORPHA:424 |
| Acrocephalopolydactylous Dysplasia |
|
Enlarged kidney, Hepatomegaly, Ascites, Hepatic fibrosis, Pancreatic fibrosis, Polysplenia |
OMIM:200995 |
| Autoimmune Polyendocrinopathy Type 1 |
|
Autoimmunity, Chronic mucocutaneous candidiasis |
ORPHA:3453 |
| Steinert Myotonic Dystrophy |
|
Respiratory failure requiring assisted ventilation, Left ventricular systolic dysfunction, Elevat... |
ORPHA:273 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Congestive heart failure, Hypertension associated with pheochromocytoma, Sinus tachycardia, Hyper... |
ORPHA:276621 |
| Choreoacanthocytosis |
|
Hepatomegaly, Arthritis, Abnormal erythrocyte enzyme concentration or activity, Elevated circulat... |
ORPHA:2388 |
| Grfoma |
|
Gastrointestinal hemorrhage, Intrahepatic cholestasis, Neoplasm of the pancreas, Hepatomegaly, Ch... |
ORPHA:97261 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Recurrent infections, Increased mean platelet volume, Abnormality of the lymphatic system, Thromb... |
ORPHA:487796 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Decreased circulating IgG level, Neutropenia |
OMIM:271510 |
| Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion |
|
Hepatoblastoma, Iron deficiency anemia, Intestinal bleeding |
ORPHA:261584 |
| Ppoma |
|
Gastrointestinal hemorrhage, Intrahepatic cholestasis, Neoplasm of the pancreas, Hepatomegaly, Ch... |
ORPHA:97278 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Large for gestational age, Hepatomegaly, Pulmonary arterial hypertension, Hypertrophic cardiomyop... |
ORPHA:96334 |
| Extracranial Carotid Artery Aneurysm |
|
Arteritis, Vasculitis, Hypertension, Cerebral ischemia, Subarachnoid hemorrhage, Autoimmunity |
ORPHA:494424 |
| Aplasia Cutis-Myopia Syndrome |
|
Meningitis |
ORPHA:1117 |
| Monosomy 18P |
|
Autoimmunity, Hypertension |
ORPHA:1598 |
| Diffuse Cutaneous Systemic Sclerosis |
|
Congestive heart failure, Arthritis, Hypertensive crisis, Pulmonary arterial hypertension, Telang... |
ORPHA:220393 |
| Cornelia De Lange Syndrome 1 |
|
Pneumonia, Thrombocytopenia, Duplication of internal organs, Otitis media |
OMIM:122470 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Respiratory failure |
ORPHA:254528 |
| Localized Scleroderma |
|
Vasculitis, Arthritis, Esophagitis, Hashimoto thyroiditis, Raynaud phenomenon, Arrhythmia, Autoim... |
ORPHA:90289 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Anti-smooth muscle antibody positivity, Aspiration pneumonia, Failure to thrive, Keratitis, Weigh... |
ORPHA:1018 |
| Aapoaiv Amyloidosis |
|
Elevated circulating creatinine concentration, Hyperlipidemia, Paraproteinemia |
ORPHA:439232 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Elevated circulating creatine kinase concentration, Increased circulating antibody level, Elevate... |
OMIM:606002 |
| Alström Syndrome |
|
Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Re... |
ORPHA:64 |
| Acute Transverse Myelitis |
|
Decreased circulating copper concentration, Invasive parasitic infection, Severe viral infection,... |
ORPHA:139417 |
| Cystinosis, Nephropathic |
|
Hepatomegaly, Hypophosphatemic rickets, Hypokalemia, Reduced blood urea nitrogen, Decreased circu... |
OMIM:219800 |
| Okur-Chung Neurodevelopmental Syndrome |
|
Failure to thrive, Decreased circulating antibody level, Decreased circulating IgG level, Decreas... |
OMIM:617062 |
| Tuberous Sclerosis Complex |
|
Hypertension, Internal hemorrhage, Respiratory failure, Pulmonary lymphangiomyomatosis, Hepatic c... |
ORPHA:805 |
| Fibular Hemimelia |
|
Thrombocytopenia |
ORPHA:93323 |
| Interstitial Cystitis |
|
Autoimmunity, Elevated circulating C-reactive protein concentration, Abnormality of tumor necrosi... |
ORPHA:37202 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Apraxia, Pancreatic hypoplasia, Failure to thrive, Reduced pancreatic beta cells, Ataxia, Weight ... |
ORPHA:99885 |
| Pulmonary Capillary Hemangiomatosis |
|
Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:199241 |
| Oculopharyngodistal Myopathy 1 |
|
Difficulty walking, Tremor, Respiratory insufficiency due to muscle weakness, Ataxia, Weight loss |
OMIM:164310 |
| Radio-Renal Syndrome |
|
Respiratory failure |
ORPHA:3015 |
| Costello Syndrome |
|
Lymphangiectasis, Respiratory insufficiency, Hypertrophic cardiomyopathy, Pulmonic stenosis, Fail... |
OMIM:218040 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Recurrent infections, Secretory IgA deficiency, Decreased circulating IgG level, Failure to thriv... |
ORPHA:500150 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Paroxysmal atrial fibrillation, Hepatomegaly, Reduced left ventricular ejection fraction, Abnorma... |
ORPHA:1677 |
| Myasthenia Gravis |
|
Autoimmunity, Thymoma |
OMIM:254200 |
| Familial Gestational Hyperthyroidism |
|
Hand tremor, Weight loss |
ORPHA:99819 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Tricuspid regurgitation, Hypertrophic cardiomyopathy, Failure to thrive, Arrhythmia, Respiratory ... |
ORPHA:2556 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Congestive heart failure, Hypertension associated with pheochromocytoma, Sinus tachycardia, Hyper... |
ORPHA:29072 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Gastrointestinal inflammation, Respiratory failure requiring assisted ventilation, Anemia, Elevat... |
ORPHA:95455 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypertriglyceridemia, Obesity, Hypercalcemia, Decreased circulating total IgM, Decreased circulat... |
ORPHA:369837 |
| Ehlers-Danlos Syndrome, Periodontal Type, 1 |
|
Recurrent infections, Autoimmunity, Periodontitis |
OMIM:130080 |
| Trichinellosis |
|
Skin rash, Meningitis, Increased circulating IgE level, Conjunctivitis |
ORPHA:863 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Iron deficiency anemia |
ORPHA:93315 |
| Ear-Patella-Short Stature Syndrome |
|
Respiratory failure, Failure to thrive |
ORPHA:2554 |
| Metachromatic Leukodystrophy, Late Infantile Form |
|
Progressive gait ataxia, Cholecystitis, Abnormal social behavior, Gait ataxia |
ORPHA:309256 |
| Spastic Paraplegia 9A, Autosomal Dominant |
|
Abnormal upper motor neuron morphology |
OMIM:601162 |
| Simpson-Golabi-Behmel Syndrome |
|
Hepatomegaly, Increased circulating IgE level, Splenomegaly, Hepatoblastoma, Pancreatic islet-cel... |
ORPHA:373 |
| Chronic Graft Versus Host Disease |
|
Elevated circulating hepatic transaminase concentration, Pancytopenia, Recurrent infections, Arth... |
ORPHA:99921 |
| Thyrotoxic Periodic Paralysis |
|
Hyperkalemia, Transient hypophosphatemia, Prolonged QT interval, Episodic hypokalemia, Ventricula... |
ORPHA:79102 |
| Familial Glucocorticoid Deficiency |
|
Hyperkalemia, Failure to thrive, Hyponatremia, Weight loss |
ORPHA:361 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Autoimmunity, Recurrent otitis media |
ORPHA:449291 |
| Osteogenesis Imperfecta |
|
Inguinal hernia, Enlarged vertebral pedicles, Vertebral compression fracture, Abnormal dental ena... |
ORPHA:666 |
| Angioedema, Hereditary, 1 |
|
Autoimmunity, Reduced circulating CH50 activity, Decreased circulating complement C4 concentratio... |
OMIM:106100 |
| Aspartylglucosaminuria |
|
Hepatomegaly, Vacuolated lymphocytes, Reduced tissue aspartylglucosaminidase activity, Acne, Recu... |
OMIM:208400 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Anemia, Abnormality of the pancreas, Lymphopenia |
ORPHA:935 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogonadism, Primary am... |
OMIM:157640 |
| Norrie Disease |
|
Cachexia, Hypertonia, Failure to thrive, Clonus |
ORPHA:649 |
| Adrenocortical Carcinoma |
|
Hypokalemia, Increased body weight, Weight loss |
ORPHA:1501 |
| Aspartylglucosaminuria |
|
Beaking of vertebral bodies, Hepatomegaly, Abnormal vertebral morphology, Anterior beaking of lum... |
ORPHA:93 |
| Lynch Syndrome |
|
Hypertonia, Neoplasm of the pancreas, Hepatocellular carcinoma, Gait disturbance, Hemiplegia/hemi... |
ORPHA:144 |
| Familial Hypocalciuric Hypercalcemia |
|
Hypermagnesemia, Hypocalcemic seizures, Pancreatitis, Hypercalcemia, Autoimmunity, Renal hypophos... |
ORPHA:405 |
| 48,Xxxy Syndrome |
|
Obesity, Abnormal social behavior |
ORPHA:96263 |
| Metachromatic Leukodystrophy, Adult Form |
|
Abnormal social behavior, Chorea, Progressive gait ataxia, Neoplasm of the gallbladder, Cholecyst... |
ORPHA:309271 |
| Early-Onset Autosomal Dominant Alzheimer Disease |
|
Ataxia, Abnormal social behavior |
ORPHA:1020 |
| X-Linked Intellectual Disability, Snyder Type |
|
Kyphoscoliosis, Hypospadias, Kyphosis, Abnormality of the Leydig cells, Camptodactyly, Cryptorchi... |
ORPHA:3063 |
| Noonan Syndrome 1 |
|
Juvenile myelomonocytic leukemia, Abnormal bleeding, Amegakaryocytic thrombocytopenia, Hypertroph... |
OMIM:163950 |
| Fg Syndrome Type 1 |
|
Slender build, Abnormal social behavior |
ORPHA:93932 |
| Metachromatic Leukodystrophy, Juvenile Form |
|
Cholecystitis, Abnormal social behavior, Progressive gait ataxia |
ORPHA:309263 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Corneal neovascularization, Hypertension, Eczematoid dermatitis, Keratitis, Erythroderma, Recurre... |
OMIM:308205 |
| Inhalational Anthrax |
|
Hypotension, Internal hemorrhage |
ORPHA:247257 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Respiratory failure, Rigidity, Hypertonia, Spasticity |
ORPHA:2636 |
| Short Syndrome |
|
Weight loss |
ORPHA:3163 |
| 8P23.1 Microdeletion Syndrome |
|
Obesity, Hypertrophic cardiomyopathy, Weight loss |
ORPHA:251071 |
| Roberts Syndrome |
|
Thrombocytopenia |
ORPHA:3103 |
| Zollinger-Ellison Syndrome |
|
Gastrointestinal hemorrhage, Jaundice, Esophagitis, Hypercalcemia, Hematochezia, Weight loss, Ext... |
ORPHA:913 |
| Lymphangioleiomyomatosis |
|
Abnormality of the lymphatic system, Pulmonary lymphangiomyomatosis, Lymphadenopathy, Ascites |
ORPHA:538 |
| Carney-Stratakis Syndrome |
|
Weight loss |
ORPHA:97286 |
| Adenocarcinoma Of The Anal Canal |
|
Neoplasm of the liver, Lymphadenopathy |
ORPHA:424016 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Gastrointestinal inflammation, Cholestatic liver disease, Cirrhosis, Recurrent otitis media, Elev... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Gastrointestinal inflammation, Cholestatic liver disease, Cirrhosis, Recurrent otitis media, Elev... |
ORPHA:99228 |
| Monosomy X |
|
Gastrointestinal inflammation, Cholestatic liver disease, Cirrhosis, Recurrent otitis media, Elev... |
ORPHA:99226 |
| Turner Syndrome |
|
Gastrointestinal inflammation, Cholestatic liver disease, Cirrhosis, Recurrent otitis media, Elev... |
ORPHA:881 |
| Arachnoiditis |
|
Meningitis |
ORPHA:137817 |
| Parathyroid Carcinoma |
|
Pancreatitis, Hypercalcemia, Hypophosphatemia, Weight loss, Pancreatic adenocarcinoma |
ORPHA:143 |
| Prader-Willi Syndrome Due To Translocation |
|
Obesity, Reduced social reciprocity, Abnormal social behavior |
ORPHA:177907 |
| Childhood Absence Epilepsy |
|
Abnormal social behavior |
ORPHA:64280 |
| Superficial Siderosis |
|
Persistent bleeding after trauma, Abnormal bleeding, Subarachnoid hemorrhage, Internal hemorrhage |
ORPHA:247245 |
| Primary Fanconi Renotubular Syndrome |
|
Bicarbonaturia, Hypophosphatemic rickets, Hypokalemia, Decreased circulating carnitine concentrat... |
ORPHA:3337 |
| Hutchinson-Gilford Progeria Syndrome |
|
Left ventricular systolic dysfunction, Severe failure to thrive, Aortic regurgitation, Angina pec... |
ORPHA:740 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyperkalemia, Hypochloremia, Hypotension, Hypovolemia, Failure to thrive, Hyponatremia, Weight lo... |
ORPHA:90794 |
| Alkaptonuria |
|
Black pigment gallstones, Hemolytic anemia, Methemoglobinemia |
ORPHA:56 |
| Tsh-Secreting Pituitary Adenoma |
|
Congestive heart failure, Hypokalemia, Supraventricular arrhythmia, Hypertension, Hypotension, Ve... |
ORPHA:91347 |
| Loeys-Dietz Syndrome 6 |
|
Hip osteoarthritis, Knee osteoarthritis, Transient ischemic attack, Osteoarthritis, Bruising susc... |
OMIM:619656 |
| Multiple Endocrine Neoplasia Type 1 |
|
Hematemesis, Neoplasm of the pancreas, Melena, Hypertension, Insulinoma, Hypercalcemia, Shortened... |
ORPHA:652 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Abnormal social behavior, Slender build, Inappropriate laughter, Overfriendliness, Small for gest... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Abnormal social behavior, Slender build, Inappropriate laughter, Overfriendliness, Small for gest... |
ORPHA:363958 |
| Otopalatodigital Syndrome, Type Ii |
|
Respiratory insufficiency, Respiratory failure |
OMIM:304120 |
| Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Dysmetria, Nonprogressive cerebellar ataxia, Ataxia, Abnormal social behavior |
ORPHA:314647 |
| Mend Syndrome |
|
Failure to thrive, Abnormal social behavior |
ORPHA:401973 |
| Ulbright-Hodes Syndrome |
|
Respiratory failure |
ORPHA:3404 |
| Pituitary Dermoid And Epidermoid Cysts |
|
Meningitis |
ORPHA:91351 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Abnormal social behavior |
ORPHA:1675 |
| Vascular Ehlers-Danlos Syndrome |
|
Abnormal bleeding, Hypokalemia, Periodontitis, Respiratory insufficiency, Hypertension, Transient... |
ORPHA:286 |
| Williams Syndrome |
|
Abnormal social behavior, Cholelithiasis, Obesity, Ataxia, Overfriendliness, Cardiomegaly, Failur... |
ORPHA:904 |
| Behavioral Variant Of Frontotemporal Dementia |
|
Inappropriate behavior |
ORPHA:275864 |
| Sacral Defect With Anterior Meningocele |
|
Rectal abscess, Meningitis |
OMIM:600145 |
| Hydranencephaly |
|
Meningitis |
ORPHA:2177 |
| Semantic Dementia |
|
|
ORPHA:100069 |
