| Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
| Hemoglobin D Disease |
|
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... |
ORPHA:90039 |
| Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes |
|
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent candida infections |
OMIM:242870 |
| Immunodeficiency 34 |
|
Recurrent mycobacterial infections, Pulmonary tuberculosis, BCGosis |
OMIM:300645 |
| Stargardt Disease 1 |
|
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy |
OMIM:248200 |
| Complement Component 7 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:610102 |
| Immunodeficiency 35 |
|
Recurrent mycobacterial infections, Recurrent viral infections, Increased circulating IgE level, ... |
OMIM:611521 |
| Mannose-Binding Lectin Deficiency |
|
Recurrent herpes, Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated ... |
OMIM:614372 |
| Immunodeficiency, Common Variable, 5 |
|
Recurrent bacterial infections, Recurrent respiratory infections, Chronic decreased circulating t... |
OMIM:613495 |
| Macular Degeneration, Age-Related, 13 |
|
Choroidal neovascularization, Macular degeneration, Macular scar, Drusen |
OMIM:615439 |
| Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections |
OMIM:308220 |
| Hemoglobin H Disease |
|
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia |
OMIM:613978 |
| Monocyte Chemotactic Disorder |
|
Cutaneous anergy |
OMIM:252250 |
| Retinitis Pigmentosa 36 |
|
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... |
OMIM:610599 |
| Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
| Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
| Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Persistence of hemoglobin F, Microcytic anemia, Increased HbA2 hemoglobin, Splenomegaly, Erythroc... |
OMIM:603902 |
| Immunodeficiency 61 |
|
Recurrent otitis media, Decreased circulating IgG2 level, Recurrent sinusitis, Decreased circulat... |
OMIM:300310 |
| Complement Component 8 Deficiency, Type Ii |
|
Meningitis, Recurrent Neisserial infections |
OMIM:613789 |
| Immunodeficiency, Common Variable, 4 |
|
Decreased circulating IgG level, Recurrent pneumonia, Recurrent sinusitis, Complete or near-compl... |
OMIM:613494 |
| Complement Component 6 Deficiency |
|
Recurrent meningococcal disease |
OMIM:612446 |
| Immunodeficiency With Hyper-Igm, Type 2 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Recurrent infection of the gast... |
OMIM:605258 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
| Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
| Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
| Exudative Vitreoretinopathy 7 |
|
Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold |
OMIM:617572 |
| X-Linked Retinal Dysplasia |
|
Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation |
ORPHA:1852 |
| Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... |
ORPHA:70592 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Retinal dysplasia |
OMIM:615041 |
| Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections, Recurrent viral infections, Severe viral infection, BCGitis |
OMIM:616126 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:609129 |
| Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
| Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Recurrent mycobacterial infections, Recurrent Klebsiella infections, Abnormal circulating interle... |
ORPHA:319552 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Splenomegaly, Abnormal hemoglobin |
ORPHA:231242 |
| Immunodeficiency 24 |
|
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... |
OMIM:615897 |
| Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Agammaglobulinemia,... |
OMIM:613500 |
| Exudative Vitreoretinopathy 3 |
|
Retinal exudate, Exudative vitreoretinopathy, Retinal detachment, Retinal hole, Retinal fold |
OMIM:605750 |
| Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
| Macular Degeneration, Age-Related, 7 |
|
Macular degeneration |
OMIM:610149 |
| Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
| Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
| Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
| Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
| Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Recurrent viral infections |
OMIM:310350 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Late-Onset Retinal Degeneration |
|
Choroidal neovascularization, Retinopathy, Retinal degeneration, Chorioretinal degeneration, Sub-... |
OMIM:605670 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
| Retinoschisis 1, X-Linked, Juvenile |
|
Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,... |
OMIM:312700 |
| Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin |
ORPHA:231393 |
| Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
| Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration |
OMIM:618513 |
| Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... |
ORPHA:2133 |
| Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections |
OMIM:616022 |
| Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Choroidal neovascularization, Pigmentary retinopathy, Abnormal fundus autofluorescence imaging, H... |
ORPHA:59181 |
| Immunodeficiency, Common Variable, 3 |
|
Chronic decreased circulating total IgG, Recurrent otitis media, Decreased circulating IgA level,... |
OMIM:613493 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Recurrent otitis media, Recurrent bronchitis, Agammaglobulinemia, Recurrent bacterial infections,... |
OMIM:613501 |
| Immunodeficiency With Hyper-Igm, Type 5 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Recurrent bacterial infections,... |
OMIM:608106 |
| Immunodeficiency 33 |
|
Pneumocystis jirovecii pneumonia, Disseminated nontuberculous mycobacterial infection, Increased ... |
OMIM:300636 |
| Retinopathy, Pericentral Pigmentary, Dominant |
|
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinopathy, Retinal atrophy, Bone ... |
OMIM:180210 |
| Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... |
OMIM:613502 |
| Ficolin 3 Deficiency |
|
Recurrent lower respiratory tract infections, Recurrent Staphylococcus aureus infections, Recurre... |
OMIM:613860 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin, Abnormal cardiac septum morphology |
ORPHA:3319 |
| Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
| Immunodeficiency 31A |
|
BCGitis, Recurrent viral infections, Recurrent mycobacterium avium complex infections, Herpes sim... |
OMIM:614892 |
| Eosinophilia, Familial |
|
Leukocytosis, Eosinophilia, Thrombocytopenia, Myocardial eosinophilic infiltration, Anemia |
OMIM:131400 |
| Familial Drusen |
|
Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi... |
ORPHA:75376 |
| Retinal Cone Dystrophy 1 |
|
Retinal degeneration, Bull's eye maculopathy, Cone/cone-rod dystrophy |
OMIM:180020 |
| Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis |
OMIM:613796 |
| Immunodeficiency 51 |
|
Chronic mucocutaneous candidiasis, Recurrent respiratory infections, Recurrent otitis media, Recu... |
OMIM:613953 |
| Immunodeficiency, Common Variable, 13 |
|
Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections, Decrease... |
OMIM:616873 |
| Chorioretinal Atrophy, Progressive Bifocal |
|
Chorioretinal dystrophy, Retinal detachment, Chorioretinal atrophy |
OMIM:600790 |
| Optic Atrophy 8 |
|
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... |
OMIM:616648 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Recurrent bacterial infections,... |
OMIM:606843 |
| Birdshot Chorioretinopathy |
|
Abnormal chorioretinal morphology, Choroidal neovascularization, Retinal thinning, Epiretinal mem... |
ORPHA:179 |
| Cyanosis, Transient Neonatal |
|
Hepatomegaly, Methemoglobinemia, Anemia, Reticulocytosis |
OMIM:613977 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... |
OMIM:612692 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Retinitis Pigmentosa 50 |
|
Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Rod-cone dystrophy, Opt... |
OMIM:613194 |
| Macular Degeneration, Age-Related, 1 |
|
Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, Macular hemorrhage, ... |
OMIM:603075 |
| Retinitis Pigmentosa 32 |
|
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor... |
OMIM:609913 |
| Immunodeficiency 112 |
|
Decreased circulating IgG level, Recurrent viral infections, Chronic mucocutaneous candidiasis, B... |
OMIM:620449 |
| Retinitis Pigmentosa 70 |
|
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... |
OMIM:615922 |
| Immunodeficiency 116 |
|
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent viral infections |
OMIM:608957 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy |
OMIM:601382 |
| Whim Syndrome 1 |
|
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent upper respiratory trac... |
OMIM:193670 |
| Myeloproliferative Syndrome, Transient |
|
Leukocytosis, Transient myeloproliferative syndrome |
OMIM:159595 |
| Candidiasis, Familial, 1 |
|
Cutaneous anergy |
OMIM:114580 |
| Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Anemia, Leukocytosis |
OMIM:619398 |
| Immunodeficiency 115 With Autoinflammation |
|
Hypoalbuminemia, Decreased circulating IgG level, Recurrent viral infections, Elevated haptoglobi... |
OMIM:620632 |
| Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Retinal arterial macroaneurysms, Exudative retinal detachment |
OMIM:614224 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... |
OMIM:240500 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis |
OMIM:613370 |
| Irvan Syndrome |
|
Retinal exudate, Optic atrophy, Macular edema, Tractional retinal detachment, Vitreous floaters, ... |
ORPHA:209943 |
| Retinitis Pigmentosa 13 |
|
Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat... |
OMIM:600059 |
| Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
| Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis |
OMIM:613779 |
| Retinal Dystrophy And Obesity |
|
Attenuation of retinal blood vessels, Retinal dots, Peripapillary atrophy, Retinal detachment, Re... |
OMIM:616188 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... |
ORPHA:251380 |
| Mhc Class Ii Deficiency 1 |
|
Recurrent upper respiratory tract infections, Recurrent viral infections, Chronic mucocutaneous c... |
OMIM:209920 |
| Reese Retinal Dysplasia |
|
Retinal dysplasia, Remnants of the hyaloid vascular system |
OMIM:266400 |
| Granulomatous disease with defect in neutrophil chemotaxis |
|
Recurrent staphylococcal infections |
OMIM:233670 |
| Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent mycobacterial infections, Decreased circulating IgG level, Recurrent viral infections, ... |
ORPHA:275 |
| Neutrophil Immunodeficiency Syndrome |
|
Abnormality of neutrophil physiology, Leukocytosis |
ORPHA:183707 |
| Acute Lung Injury |
|
Sepsis, Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis factor s... |
ORPHA:178320 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia |
ORPHA:231401 |
| Cernunnos-Xlf Deficiency |
|
Recurrent bacterial infections, Recurrent viral infections, Decreased circulating antibody level |
ORPHA:169079 |
| Melanoma-Pancreatic Cancer Syndrome |
|
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Melanoma, Squamous cell carcino... |
OMIM:606719 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... |
ORPHA:320401 |
| Reticular Dysgenesis |
|
Hypoplasia of the thymus, Impaired T cell function, Lack of T cell function |
OMIM:267500 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Recurrent mycobacterial infections, Decreased circulating IgG level, Invasive fungal infection, C... |
ORPHA:98813 |
| Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Recurrent otitis m... |
OMIM:618944 |
| Adult Idiopathic Neutropenia |
|
Helicobacter pylori infection, Recurrent fungal infections, Recurrent bacterial infections, Recur... |
ORPHA:2688 |
| Immunodeficiency 84 |
|
Recurrent bacterial infections, Persistent EBV viremia |
OMIM:619437 |
| Complement Factor H Deficiency |
|
Recurrent bacterial infections |
OMIM:609814 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Elevated hemoglobin A1c, Type I diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis |
OMIM:618858 |
| Immunodeficiency, Common Variable, 1 |
|
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... |
OMIM:607594 |
| Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent pneumonia, Ch... |
OMIM:614868 |
| Abcd Syndrome |
|
Abnormal auditory evoked potentials, Hearing impairment, Polycythemia, Aganglionic megacolon, Tot... |
OMIM:600501 |
| Immunodeficiency, Common Variable, 6 |
|
Decreased specific pneumococcal antibody level, Chronic decreased circulating total IgG, Complete... |
OMIM:613496 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Recurrent bacterial infections, Increased circulating antibody level |
OMIM:202700 |
| Caspase 8 Deficiency |
|
Decreased circulating IgG level, Decreased circulating IgA level, Reduced CD95-induced lymphocyte... |
OMIM:607271 |
| Vitreoretinal Degeneration, Snowflake Type |
|
Snowflake vitreoretinal degeneration, Retinal detachment, Retinal dots, Optically empty vitreous |
OMIM:193230 |
| Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Lattice retinal degeneration, Retinal detachment, Vitreous floaters, Peripheral vitreoretinal deg... |
OMIM:614292 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased circulating IgG level, Sepsis, Chronic mucocutaneous candidiasis, Decreased circulating... |
ORPHA:276 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... |
OMIM:305390 |
| Adult Acute Respiratory Distress Syndrome |
|
Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration... |
ORPHA:70578 |
| Griscelli Syndrome, Type 2 |
|
Recurrent bacterial infections |
OMIM:607624 |
| Complement Factor B Deficiency |
|
Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease |
OMIM:615561 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro... |
ORPHA:75564 |
| Maturity-Onset Diabetes Of The Young, Type 13 |
|
Maturity-onset diabetes of the young, Hyperglycemia, Maternal diabetes, Elevated hemoglobin A1c, ... |
OMIM:616329 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, Maternal diabetes, Hyperglycemia |
OMIM:610582 |
| Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... |
OMIM:610629 |
| Myopia 3, Autosomal Dominant |
|
Retinal detachment |
OMIM:603221 |
| Myopia 5, Autosomal Dominant |
|
Retinal detachment |
OMIM:608474 |
| Myopia 25, Autosomal Dominant |
|
Retinal detachment |
OMIM:617238 |
| Myopia 2, Autosomal Dominant |
|
Retinal detachment |
OMIM:160700 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent viral infections, Chronic mucocutaneous candidiasis, Recurrent protozoan infections, Re... |
ORPHA:572 |
| Immunodeficiency 69 |
|
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A... |
OMIM:618963 |
| Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Increased mean corpuscular volume, Conductive hearing impairment, Atresia of the external auditor... |
OMIM:300946 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly, Anemia, Hearing impairment, Hypoglycemia |
OMIM:618838 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Optic atrophy, Cardiomyopathy, Sensorineural hearing impairment, Absent brainstem auditory respon... |
ORPHA:1215 |
| Transient Neonatal Diabetes Mellitus |
|
Hearing impairment, Maturity-onset diabetes of the young, Abnormal heart morphology, Hyperglycemi... |
ORPHA:99886 |
| Exudative Vitreoretinopathy 1 |
|
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre... |
OMIM:133780 |
| Acute Myelomonocytic Leukemia |
|
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia |
ORPHA:517 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Elevated hemoglobin A1c, Type I diabetes mellitus, Diabetes mellitus, Hyperglycemia |
OMIM:606176 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Myopia 28, Autosomal Recessive |
|
Retinal detachment |
OMIM:619781 |
| Immunodeficiency 10 |
|
Decreased circulating IgG level, Recurrent pneumonia, Sepsis, Recurrent urinary tract infections,... |
OMIM:612783 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Recurrent pneumonia, Recurrent viral infections, Sepsis, Severe viral infection, Recurrent otitis... |
OMIM:243700 |
| Vitreoretinopathy, Neovascular Inflammatory |
|
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V... |
OMIM:193235 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Increased RBC distribution width, Persistence of hemoglobin F, Hypertrophic cardiomyopathy, Hepat... |
OMIM:613673 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased specific anti-polysaccharide antibody level, Lymphoma, Hodgkin lymphoma, B-cell lymphom... |
OMIM:300853 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... |
OMIM:125250 |
| Immunodeficiency 27B |
|
Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections |
OMIM:615978 |
| Immunodeficiency With Hyper-Igm, Type 4 |
|
Recurrent bacterial infections, Recurrent upper respiratory tract infections, Recurrent infection... |
OMIM:608184 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Hyperglycemia |
OMIM:609812 |
| Alpha-Thalassemia |
|
Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenomegaly, Hypersplen... |
ORPHA:846 |
| Nut Midline Carcinoma |
|
Ewing sarcoma, Neoplasm, Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell ... |
ORPHA:443167 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Sepsis, Invasive fungal infection, Opportunistic infection, Severe viral infection, Recurrent can... |
ORPHA:83471 |
| Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent pneumonia, Recurrent enteroviral infections, Panhypogammaglobulinemia, Recurrent otitis... |
OMIM:601495 |
| Hb Bart'S Hydrops Fetalis |
|
Abnormal hemoglobin, Splenomegaly, Anemia, Hepatomegaly, Pericarditis |
ORPHA:163596 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Recurrent viral infections, Abnormal circulating IgM level, Increased circulating IgA level, Elev... |
OMIM:618048 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Cutaneous anergy |
OMIM:183350 |
| Vulvovaginal Gingival Syndrome |
|
Abnormality of tumor necrosis factor secretion |
ORPHA:83453 |
| Macrophage Activation Syndrome |
|
Hypoalbuminemia, Abnormal circulating interleukin concentration, Increased circulating interleuki... |
ORPHA:158061 |
| Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Recurrent Haemophilus influenzae infections, Recurrent bronchitis |
OMIM:300455 |
| Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... |
OMIM:619632 |
| Immunodeficiency 67 |
|
Recurrent staphylococcal infections, Increased circulating IgE level, Complete or near-complete a... |
OMIM:607676 |
| Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... |
OMIM:263300 |
| Beta-Thalassemia |
|
Microcytic anemia, Hypertrophic cardiomyopathy, Splenomegaly, Abnormal hemoglobin, Anemia, Thromb... |
ORPHA:848 |
| Agammaglobulinemia 9, Autosomal Recessive |
|
Recurrent bacterial infections, Agammaglobulinemia |
OMIM:619693 |
| Morning Glory Disc Anomaly |
|
Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma |
ORPHA:35737 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Facial palsy, EEG abnormality, Sensorineural hearing impairment |
OMIM:617519 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Persistent CMV viremia, Decreased circulating IgG level, Recurrent upper respiratory tract infect... |
OMIM:616005 |
| Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... |
ORPHA:521 |
| Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Recurrent bacterial infections |
OMIM:610738 |
| Immunodeficiency 11A |
|
Agammaglobulinemia, Decreased circulating antibody level, Reduced antigen-specific T cell prolife... |
OMIM:615206 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Hypoalbuminemia, Increased circulating interferon-gamma concentration, Increased circulating ferr... |
ORPHA:540 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Decreased specific pneumococcal antibody level, Recurrent upper respiratory tract infections, Rec... |
ORPHA:183675 |
| X-Linked Severe Congenital Neutropenia |
|
Recurrent bacterial infections |
ORPHA:86788 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Molluscum contagiosum, Abnormal circulating IgG level, Dysgammaglobulinemia, Severe cytomegalovir... |
OMIM:300291 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent enteroviral infections, Enteroviral dermatomyositis syndrome, Recurrent otitis media, P... |
OMIM:307200 |
| Leukocyte Adhesion Deficiency, Type I |
|
Chronic mucocutaneous candidiasis, Recurrent gram-negative bacterial infections, Elevated circula... |
OMIM:116920 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Increased circulating IgE level, Reduced delayed hypersensitivity, Hypoplasia of the thymus, Redu... |
OMIM:617241 |
| Selective Igm Deficiency |
|
Recurrent bronchitis, Meningitis, Paraproteinemia, Recurrent sinusitis, Decreased circulating tot... |
ORPHA:331235 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Pneumocystis carinii pneumonia, Decreased circulating IgE, Sepsis, Decreased circulating IgG leve... |
OMIM:308230 |
| Juvenile Temporal Arteritis |
|
Eosinophilia, Leukocytosis |
ORPHA:26137 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septa... |
OMIM:620135 |
| Immunodeficiency 12 |
|
Recurrent viral infections, Complete or near-complete absence of specific antibody response to te... |
OMIM:615468 |
| Exudative Vitreoretinopathy 6 |
|
Exudative vitreoretinopathy, Retinal exudate, Posterior vitreous detachment, Tractional retinal d... |
OMIM:616468 |
| Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Type II diabetes mellitus, Cardiomyopathy, Sensorineural hearing impairment |
OMIM:520000 |
| Pancreatic Cancer, Susceptibility To, 2 |
|
Neoplasm of the pancreas |
OMIM:613347 |
| Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies |
|
Hyperglycemia, Glucose intolerance |
OMIM:307500 |
| Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia |
OMIM:618849 |
| Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Increased mean corpuscular volume, Persistence of hemoglobin F, Tetralog... |
OMIM:612561 |
| Complement Component 5 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:609536 |
| Juvenile Arthritis |
|
Leukocytosis, Thrombocytosis |
OMIM:618795 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased circulating IgG level, Recurrent viral infections, Recurrent enteroviral infections, De... |
ORPHA:331206 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Sen... |
OMIM:601455 |
| Neutropenia, Severe Congenital, X-Linked |
|
Recurrent bacterial infections |
OMIM:300299 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent mycobacterial infections, Recurrent viral infections, Chronic mucocutaneous candidiasis... |
ORPHA:911 |
| Specific Granule Deficiency 2 |
|
Recurrent otitis media, Recurrent pneumonia, Sepsis, Recurrent bacterial infections |
OMIM:617475 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... |
OMIM:601596 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Severe varicella zoster infection, Recurrent viral infections, Decreased specific anti-polysaccha... |
OMIM:606367 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Recurrent mycobacterial infections, Recurrent viral infections, Sepsis, Recurrent fungal infectio... |
ORPHA:169090 |
| Cinca Syndrome |
|
Progressive sensorineural hearing impairment, Hearing impairment, Hepatosplenomegaly, Leukocytosi... |
OMIM:607115 |
| Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome |
|
Thrombocytopenia, Absent brainstem auditory responses, Hypochromic microcytic anemia, Vestibular ... |
ORPHA:3240 |
| Mohr-Tranebjaerg Syndrome |
|
Optic atrophy, Prelingual sensorineural hearing impairment, Abnormality of somatosensory evoked p... |
ORPHA:52368 |
| Complement Factor I Deficiency |
|
Recurrent urinary tract infections, Recurrent otitis media, Recurrent sinusitis, Recurrent mening... |
OMIM:610984 |
| Specific Granule Deficiency 1 |
|
Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial infections |
OMIM:245480 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials, Abnormality of visual evoked potentials |
OMIM:617523 |
| Beta-Thalassemia Intermedia |
|
Extramedullary hematopoiesis, Persistence of hemoglobin F, Increased HbA2 hemoglobin, Hepatosplen... |
ORPHA:231222 |
| Sweet Syndrome |
|
Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration... |
ORPHA:3243 |
| Diabetes Mellitus, Permanent Neonatal, 3 |
|
Interictal epileptiform activity, Hyperglycemia, Type I diabetes mellitus, Glycosuria |
OMIM:618857 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... |
OMIM:300908 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Attrv122I Amyloidosis |
|
Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Abnormal enteric ... |
ORPHA:85451 |
| Thrombocytopenia 2 |
|
Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia |
OMIM:188000 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Hypouricemia, Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent... |
OMIM:613179 |
| Immunodeficiency 23 |
|
Chronic mucocutaneous candidiasis, Recurrent respiratory infections, Molluscum contagiosum, Incre... |
OMIM:615816 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Recurrent viral infections, Recurrent infection of the gastrointestinal tract, Recurrent sinopulm... |
ORPHA:486 |
| Immunodeficiency 113 With Autoimmunity And Autoinflammation |
|
Recurrent viral infections, Intraalveolar phospholipid accumulation, Increased circulating IgE le... |
OMIM:620565 |
| Mogs-Cdg |
|
Optic atrophy, Hepatosplenomegaly, Sensorineural hearing impairment, Cardiomegaly, Left ventricul... |
ORPHA:79330 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... |
OMIM:608203 |
| Leukodystrophy, Hypomyelinating, 5 |
|
Delayed brainstem auditory evoked response conduction time, Delayed somatosensory central conduct... |
OMIM:610532 |
| Omenn Syndrome |
|
Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections, Hypoprot... |
OMIM:603554 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Extramedullary hematopoiesis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Anemia, Hepatomegaly |
OMIM:612840 |
| Coats Disease |
|
Retinal telangiectasia, Exudative retinal detachment |
OMIM:300216 |
| Chronic Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Hemolytic anemia, Sensorineural hearing impairment |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Hemolytic anemia, Sensorineural hearing impairment |
ORPHA:529799 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia, Hyperglycemia, Hyp... |
OMIM:262190 |
| Sickle Cell Anemia |
|
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... |
ORPHA:232 |
| Mody |
|
Abnormal oral glucose tolerance, Glycosuria, Insulin-resistant diabetes mellitus, Hyperglycemia, ... |
ORPHA:552 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ... |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ... |
OMIM:233710 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Recurrent pneumonia, Recurrent viral infections, Chronic mucocutaneous candidiasis, Increased cir... |
OMIM:102700 |
| Sickle Cell Disease |
|
Splenic infarction, Increased red cell sickling tendency, Leukocytosis, Splenomegaly, Target cell... |
OMIM:603903 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Abnormal circulating interleukin concentration, Recurrent viral infections, Recurrent enteroviral... |
ORPHA:79124 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ... |
OMIM:233690 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Recurrent viral infections, Decreased circulating total IgG, Recurrent urinary tract infections, ... |
ORPHA:221139 |
| Kenny-Caffey Syndrome, Type 1 |
|
Recurrent bacterial infections, Hypocalcemia, Hypomagnesemia |
OMIM:244460 |
| Acute Monoblastic/Monocytic Leukemia |
|
Hypochromic anemia, Acute monocytic leukemia, Progressive hearing impairment, Leukocytosis, Lymph... |
ORPHA:514 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Increased circulating IgE level, Lack of T cell function |
ORPHA:277 |
| Autoimmune Lymphoproliferative Syndrome |
|
Reduced delayed hypersensitivity, Increased circulating IgA level, Increased circulating IgG leve... |
OMIM:601859 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:619260 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:109120 |
| Ziegler-Huang Syndrome |
|
Neutropenia, Macrocytic anemia, Persistence of hemoglobin F |
OMIM:620501 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Recurrent bacterial infections |
OMIM:603585 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... |
ORPHA:206443 |
| Idiopathic Bronchiectasis |
|
Recurrent Haemophilus influenzae infections, Recurrent lower respiratory tract infections |
ORPHA:60033 |
| Pgm3-Cdg |
|
Recurrent pneumonia, Recurrent viral infections, Sepsis, Recurrent respiratory infections, Increa... |
ORPHA:443811 |
| Postinfectious Vasculitis |
|
Recurrent mycobacterial infections, Invasive fungal infection, Severe viral infection, Recurrent ... |
ORPHA:48435 |
| Immunodeficiency 21 |
|
Recurrent fungal infections, Recurrent viral infections, Recurrent mycobacterium avium complex in... |
OMIM:614172 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Bilateral sensorineural hearing impairment, Decreased mean corpuscular volume, Increased HbA2 hem... |
OMIM:616943 |
| Beta-Thalassemia Major |
|
Dilated cardiomyopathy, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemogl... |
ORPHA:231214 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Abnormal circulating interleukin concentration, Increased circulating ferritin concentration, Hyp... |
ORPHA:158057 |
| Dominant Beta-Thalassemia |
|
Dilated cardiomyopathy, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemogl... |
ORPHA:231226 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Recurrent bacterial infections, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
OMIM:241410 |
| Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
|
Elevated circulating C-reactive protein concentration, Abnormal circulating interleukin concentra... |
ORPHA:85435 |
| Dend Syndrome |
|
Elevated hemoglobin A1c, Hypsarrhythmia, Thickened ears, Hyperglycemia |
ORPHA:79134 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
| Interstitial Cystitis |
|
Elevated circulating C-reactive protein concentration, Abnormality of tumor necrosis factor secre... |
ORPHA:37202 |
| Mirage Syndrome |
|
Sepsis, Recurrent urinary tract infections, Hyponatremia, Recurrent bacterial infections, Hyperka... |
OMIM:617053 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
| Immunodeficiency 47 |
|
Decreased circulating total IgG, Chronic decreased circulating total IgG, Decreased circulating a... |
OMIM:300972 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Aplasia/Hypoplasia of the earlobes, Low-set, posteriorly rotated ears, HbH hemoglobin, Microcytic... |
ORPHA:98791 |
| Cockayne Syndrome Type 1 |
|
Optic atrophy, Hearing impairment, Abnormality of peripheral nerve conduction, Anemia, Absent bra... |
ORPHA:90321 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Abnormal circulating interleukin concentration, Increased circulating interferon-gamma concentrat... |
ORPHA:542323 |
| Whim Syndrome |
|
Recurrent upper respiratory tract infections, Sepsis, Recurrent pneumonia, Recurrent bacterial in... |
ORPHA:51636 |
| Diamond-Blackfan Anemia |
|
Low-set ears, Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence... |
ORPHA:124 |
| Arthrogryposis, Distal, Type 2A |
|
Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
| Hypocomplementemic Urticarial Vasculitis |
|
Recurrent bacterial infections, Meningitis |
ORPHA:36412 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Low-set ears, Overfolded helix, Cupped ear, Persistence of hemoglobin F |
OMIM:617101 |
| Insulin-Resistance Syndrome Type B |
|
Postprandial hyperglycemia, Insulin resistance, Glycosuria, Insulin-resistant diabetes mellitus, ... |
ORPHA:2298 |
| Chédiak-Higashi Syndrome |
|
Recurrent streptococcal infections, Recurrent respiratory infections, Increased circulating ferri... |
ORPHA:167 |
| Granulomatous Disease, Chronic, X-Linked |
|
Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ... |
OMIM:306400 |
| Vici Syndrome |
|
Decreased circulating IgG level, Recurrent viral infections, Chronic mucocutaneous candidiasis, D... |
OMIM:242840 |
| Mannosidosis, Alpha B, Lysosomal |
|
Recurrent bacterial infections, Decreased circulating antibody level |
OMIM:248500 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Hypohidrosis, Decreased specific anti-polysaccharide antibody level, Patent ductus arteriosus, Im... |
OMIM:614576 |
| Infantile Krabbe Disease |
|
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Hearing impairment, De... |
ORPHA:206436 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Delayed brainstem auditory evoked response conduction time, Optic atrophy |
OMIM:616881 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Hearing impairment, Decreased nerve conduction velocity, Hepatosplenomegaly, Short-segment agangl... |
OMIM:609136 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F, Atrial septal defect, Ventricular septal defect |
OMIM:619769 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Recurrent bacterial infections, Hypoproteinemia, Elevated circulating creatine kinase concentration |
OMIM:615895 |
| Adult Krabbe Disease |
|
Delayed brainstem auditory evoked response conduction time, EEG abnormality |
ORPHA:206448 |
| Shwachman-Diamond Syndrome 1 |
|
Myocardial necrosis, Persistence of hemoglobin F, Pancytopenia, Anemia, Acute myeloid leukemia, N... |
OMIM:260400 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Reduced delayed hypersensitivity, Increased circulating IgA level, Increased circulating IgG leve... |
OMIM:603909 |
| Hereditary Orotic Aciduria |
|
Patent ductus arteriosus, Impaired T cell function |
ORPHA:30 |
| Lysinuric Protein Intolerance |
|
Intraalveolar phospholipid accumulation, Increased circulating ferritin concentration, Decreased ... |
ORPHA:470 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Autonomic bl... |
ORPHA:99027 |
| Hermansky-Pudlak Syndrome 2 |
|
Recurrent pneumonia, Recurrent otitis media, Recurrent abscess formation, Recurrent bacterial inf... |
OMIM:608233 |
| Bone Marrow Failure Syndrome 3 |
|
Aplastic anemia, Cupped ear, Hearing impairment, Persistence of hemoglobin F, Increased mean corp... |
OMIM:617052 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Decreased nerve conduction velocity, Absent brainstem auditory responses, Optic nerve hypoplasia,... |
ORPHA:101085 |
| Pancreatic And Cerebellar Agenesis |
|
Low-set ears, Secundum atrial septal defect, Hypoglycemia, Hyperglycemia, Anemia, Diabetes mellit... |
OMIM:609069 |
| Hereditary Chronic Pancreatitis |
|
Leukocytosis, Diabetes mellitus |
ORPHA:676 |
| Immunodeficiency 87 And Autoimmunity |
|
Recurrent viral infections, Sepsis, Hypokalemia, Severe cytomegalovirus infection, Recurrent fung... |
OMIM:619573 |
| Obesity Due To Congenital Leptin Deficiency |
|
Pituitary hypothyroidism, Decreased T cell activation, Hypoplasia of the ovary, Decreased testicu... |
ORPHA:66628 |
| Cerebrotendinous Xanthomatosis |
|
Optic atrophy, Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality... |
ORPHA:909 |
| Chromomycosis |
|
Recurrent bacterial infections |
ORPHA:182 |
| Trisomy 10P |
|
Low-set ears, Abnormal auditory evoked potentials, Abnormal heart morphology, EEG with burst supp... |
ORPHA:171929 |
| Gaucher Disease, Type Iiic |
|
Aortic valve calcification, Pancytopenia, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral val... |
OMIM:231005 |
| Schimke Immuno-Osseous Dysplasia |
|
Bone marrow hypocellularity, Impaired T cell function, Abnormality of thyroid physiology, Abnorma... |
ORPHA:1830 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Pituitary hypothyroidism, Decreased T cell activation, Hypoplasia of the ovary, Decreased testicu... |
ORPHA:179494 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Recurrent upper respiratory tract infections, Sepsis, Recurrent urinary tract infections, Recurre... |
OMIM:612541 |
| Oligoarticular Juvenile Idiopathic Arthritis |
|
Abnormal circulating interleukin concentration, Increased circulating interferon-gamma concentration |
ORPHA:85410 |
| Cockayne Syndrome B |
|
Optic atrophy, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Splenome... |
OMIM:133540 |
| Cockayne Syndrome A |
|
Optic atrophy, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Splenome... |
OMIM:216400 |
| Primary Ciliary Dyskinesia |
|
Recurrent otitis media, Recurrent mycobacterial infections, Recurrent sinopulmonary infections |
ORPHA:244 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Low-set ears, HbH hemoglobin, Sensorineural hearing impairment, Ventricular septal defect, Perime... |
OMIM:301040 |
| Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Cutaneous anergy, Abnormality of B cell physiology, Decreased lymphocyte proliferation in respons... |
OMIM:600802 |
| Infantile Systemic Hyalinosis |
|
Recurrent bacterial infections |
ORPHA:2176 |
| Glycogen Storage Disease Ib |
|
Recurrent bacterial infections, Hyperlipidemia, Hyperuricemia |
OMIM:232220 |
| Patent Urachus |
|
Recurrent gram-negative bacterial infections, Recurrent urinary tract infections |
ORPHA:431341 |
| Lead Poisoning |
|
Anemia, Abnormality of the autonomic nervous system, Imbalanced hemoglobin synthesis, Abnormal T ... |
ORPHA:330015 |
| Intrahepatic Cholestasis Of Pregnancy |
|
Abnormal circulating interleukin concentration, Hyperbilirubinemia, Increased serum bile acid con... |
ORPHA:69665 |
| Thymoma |
|
Leukemia, Pure red cell aplasia, Aplastic anemia, Imbalanced hemoglobin synthesis |
ORPHA:99867 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Optic atrophy, Abnormal hemoglobin, Sensorineural hearing impairment, Aganglionic megacolon, Anemia |
ORPHA:847 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Reduced delayed hypersensitivity, Aplasia of the thymus |
OMIM:242700 |
| Shwachman-Diamond Syndrome |
|
Hypoamylasemia, Recurrent viral infections, Sepsis, Increased serum bile acid concentration, Recu... |
ORPHA:811 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Decreased testicular size, Impaired T cell function |
OMIM:201100 |
| Diamond-Blackfan Anemia 1 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... |
OMIM:105650 |
| Chediak-Higashi Syndrome |
|
Recurrent infections, Recurrent systemic pyogenic infections, Recurrent bacterial skin infections |
OMIM:214500 |
| Mend Syndrome |
|
Aortic valve stenosis, Low-set ears, Abnormal auditory evoked potentials, Abnormal heart morphology |
ORPHA:401973 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Lack ... |
ORPHA:35078 |
| Immunodeficiency 58 |
|
Decreased T cell activation, Verrucae, Decreased specific antibody response to vaccination, Decre... |
OMIM:618131 |
| Cystic Fibrosis |
|
Recurrent respiratory infections, Recurrent Aspergillus infections, Recurrent Burkholderia cepaci... |
ORPHA:586 |
| Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Abnormality of tumor necrosis factor secretion |
ORPHA:85436 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hyperlipidemia, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Recurrent bacterial in... |
ORPHA:79259 |
| Orotic Aciduria |
|
Impaired T cell function |
OMIM:258900 |
| Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Recurrent pneumonia, Recurrent upper respiratory tract infections, Chronic mucocutaneous candidia... |
OMIM:147060 |
| Wiskott-Aldrich Syndrome |
|
Decreased specific anti-polysaccharide antibody level, Increased circulating IgE level, Abnormal ... |
OMIM:301000 |
| Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Increased circulating IgE level, Increased circulating IgG level, Defective T cell proliferation,... |
OMIM:618213 |
| Leukocyte Adhesion Deficiency |
|
Sepsis, Recurrent tonsillitis, Recurrent urinary tract infections, BCGosis, Recurrent fungal infe... |
ORPHA:2968 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Recurrent bacterial infections |
ORPHA:99104 |
| Velocardiofacial Syndrome |
|
Hypoparathyroidism, Cryptorchidism, Impaired T cell function |
OMIM:192430 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Abnormality of T cell physiology, Parathyroid hypoplasia |
ORPHA:2237 |
| Alkaptonuria |
|
Aortic valve stenosis, Aortic valve calcification, Abnormal heart valve morphology, Mitral stenos... |
ORPHA:56 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Recurrent bacterial infections |
ORPHA:99103 |
| Sarcoidosis, Susceptibility To, 1 |
|
Enlarged lacrimal glands, Abnormal salivary gland morphology, Abnormality of T cell physiology, I... |
OMIM:181000 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Recurrent bacterial infections, Recurrent infections, Recurrent respiratory infections |
ORPHA:2273 |
| 22Q11.2 Deletion Syndrome |
|
Cholelithiasis, Impaired T cell function, Cryptorchidism, Hypoplasia of the thymus, Hypothyroidis... |
ORPHA:567 |
| Digeorge Syndrome |
|
Cholelithiasis, Parathyroid hypoplasia, Impaired T cell function, Ovarian cyst, Parathyroid agene... |
OMIM:188400 |
| Progeroid Short Stature With Pigmented Nevi |
|
Impaired T cell function |
OMIM:176690 |
| Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Recurrent Staphylococcus aureus infections |
ORPHA:642 |
