| Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
| Hemoglobin D Disease |
|
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... |
ORPHA:90039 |
| Immunodeficiency, Common Variable, 5 |
|
Recurrent bacterial infections, Chronic decreased circulating total IgG, Recurrent respiratory in... |
OMIM:613495 |
| Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent candida infections, Recurrent bacterial infections, Decreased circulating IgG level |
OMIM:242870 |
| Stargardt Disease 1 |
|
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy |
OMIM:248200 |
| Immunodeficiency 34 |
|
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis |
OMIM:300645 |
| Complement Component 7 Deficiency |
|
Recurrent meningococcal disease, Recurrent Neisserial infections |
OMIM:610102 |
| Immunodeficiency 35 |
|
Recurrent mycobacterial infections, Recurrent viral infections, Recurrent respiratory infections,... |
OMIM:611521 |
| Mannose-Binding Lectin Deficiency |
|
Recurrent meningococcal disease, Recurrent Klebsiella infections, Recurrent herpes, Disseminated ... |
OMIM:614372 |
| Macular Degeneration, Age-Related, 13 |
|
Macular scar, Macular degeneration, Choroidal neovascularization, Drusen |
OMIM:615439 |
| Immunodeficiency, Common Variable, 4 |
|
Decreased circulating total IgM, Recurrent sinusitis, Complete or near-complete absence of specif... |
OMIM:613494 |
| Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent protozoan infections, Recurrent viral infections |
OMIM:308220 |
| Hemoglobin H Disease |
|
Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hepatomegaly, Splenomegaly |
OMIM:613978 |
| Monocyte Chemotactic Disorder |
|
Cutaneous anergy |
OMIM:252250 |
| Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
| Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... |
OMIM:603902 |
| Retinitis Pigmentosa 36 |
|
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:610599 |
| Complement Component 8 Deficiency, Type Ii |
|
Meningitis, Recurrent Neisserial infections |
OMIM:613789 |
| Complement Component 6 Deficiency |
|
Recurrent meningococcal disease |
OMIM:612446 |
| Immunodeficiency With Hyper-Igm, Type 2 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, Recurrent upp... |
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 |
| Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Retinal dysplasia |
OMIM:615041 |
| X-Linked Retinal Dysplasia |
|
Retinal dysplasia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology |
ORPHA:1852 |
| Exudative Vitreoretinopathy 7 |
|
Exudative vitreoretinopathy, Retinal fold, Retinal hole, Retinal degeneration, Retinal detachment |
OMIM:617572 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:609129 |
| Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... |
ORPHA:70592 |
| Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
| 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 |
| Agammaglobulinemia 2, Autosomal Recessive |
|
Decreased circulating total IgM, Recurrent respiratory infections, Recurrent otitis media, Recurr... |
OMIM:613500 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:231242 |
| Immunodeficiency 24 |
|
Decreased circulating IgG level, Defective T cell proliferation, Decreased circulating IgG2 level... |
OMIM:615897 |
| Exudative Vitreoretinopathy 3 |
|
Exudative vitreoretinopathy, Retinal fold, Retinal hole, Retinal exudate, Retinal detachment |
OMIM:605750 |
| Immunodeficiency, Common Variable, 3 |
|
Chronic decreased circulating total IgG, Decreased circulating total IgM, Reduced isohemagglutini... |
OMIM:613493 |
| Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Recurrent viral infections |
OMIM:310350 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Hepatomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
| Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Recurrent mycobacterial infections, Coccidioidomycosis, Tegumentary leishmaniasis susceptibility,... |
ORPHA:319552 |
| Immunodeficiency 12 |
|
Recurrent bacterial infections, Recurrent viral infections |
OMIM:615468 |
| Late-Onset Retinal Degeneration |
|
Retinopathy, Sub-RPE deposits, Retinal degeneration, Choroidal neovascularization, Chorioretinal ... |
OMIM:605670 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
| Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
| Immunodeficiency 61 |
|
Decreased circulating total IgM, Recurrent respiratory infections, Decreased circulating IgG2 lev... |
OMIM:300310 |
| Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
| Retinoschisis 1, X-Linked, Juvenile |
|
Retinal pigment epithelial atrophy, Vitreous hemorrhage, Retinal atrophy, Retinal degeneration, M... |
OMIM:312700 |
| Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... |
ORPHA:2133 |
| Leber Congenital Amaurosis 19 |
|
Retinal degeneration, Optic disc pallor, Attenuation of retinal blood vessels |
OMIM:618513 |
| Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent otitis media |
OMIM:616022 |
| Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Retinal pigment epithelial atrophy, Pigmentary retinopathy, Hyporeflective spaces on macular OCT,... |
ORPHA:59181 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Absent isohemagglutinin level, Recurrent bronchitis, Recurrent otitis media, Recurrent bacterial ... |
OMIM:613501 |
| Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections |
OMIM:616126 |
| Immunodeficiency With Hyper-Igm, Type 5 |
|
Recurrent upper and lower respiratory tract infections, Recurrent bacterial infections, Decreased... |
OMIM:608106 |
| Immunodeficiency 33 |
|
Decreased circulating total IgM, Pneumocystis jirovecii pneumonia, Recurrent bacterial infections... |
OMIM:300636 |
| Retinopathy, Pericentral Pigmentary, Dominant |
|
Retinopathy, Retinal atrophy, Retinal dystrophy, Bone spicule pigmentation of the retina, Attenua... |
OMIM:180210 |
| Delta-Beta-Thalassemia |
|
Anemia, Abnormal hemoglobin, Microcytic anemia |
ORPHA:231237 |
| Eosinophilia, Familial |
|
Anemia, Myocardial eosinophilic infiltration, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Recurrent bacterial infections, Recurrent viral infections, Recurrent fungal infections |
OMIM:614868 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Decreased circulating total IgM, Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial... |
OMIM:613502 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin, Abnormal cardiac septum morphology |
ORPHA:3319 |
| Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
| Ficolin 3 Deficiency |
|
Recurrent lower respiratory tract infections, Recurrent abscess formation, Recurrent Staphylococc... |
OMIM:613860 |
| Immunodeficiency 31A |
|
Recurrent mycobacterium avium complex infections, Herpes simplex encephalitis, BCGitis, Recurrent... |
OMIM:614892 |
| Thrombocytopenia 2 |
|
Thrombocytopenia, Leukocytosis |
OMIM:188000 |
| Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis |
OMIM:613796 |
| Familial Drusen |
|
Macular drusen, Hypoautofluorescent macular lesion, Hyperautofluorescent macular lesion, Macular ... |
ORPHA:75376 |
| Immunodeficiency 51 |
|
Recurrent cutaneous fungal infections, Chronic oral candidiasis, Recurrent Staphylococcus aureus ... |
OMIM:613953 |
| Chorioretinal Atrophy, Progressive Bifocal |
|
Retinal detachment, Chorioretinal dystrophy, Chorioretinal atrophy |
OMIM:600790 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Decreased circulating total IgM, Recurrent bronchitis, Recurrent otitis media, Recurrent pneumoni... |
OMIM:612692 |
| Retinal Cone Dystrophy 1 |
|
Retinal degeneration, Bull's eye maculopathy, Cone/cone-rod dystrophy |
OMIM:180020 |
| Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Anemia, Reticulocytosis, Hepatomegaly |
OMIM:613977 |
| Birdshot Chorioretinopathy |
|
Retinal thinning, Abnormal choroid morphology, Vitritis, Vitreous floaters, Choroidal neovascular... |
ORPHA:179 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgE, Recurrent bacterial infections, Decreased circulating IgA level, Incre... |
OMIM:606843 |
| Macular Degeneration, Age-Related, 1 |
|
Macular drusen, Macular hemorrhage, Macular degeneration, Choroidal neovascularization, Foveal hy... |
OMIM:603075 |
| Retinitis Pigmentosa 32 |
|
Retinal degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse... |
OMIM:609913 |
| Retinitis Pigmentosa 70 |
|
Rod-cone dystrophy, Retinal degeneration, Macular degeneration, Attenuation of retinal blood vess... |
OMIM:615922 |
| Retinitis Pigmentosa 50 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Opt... |
OMIM:613194 |
| Exudative Vitreoretinopathy 6 |
|
Exudative vitreoretinopathy, Chorioretinal atrophy, Posterior vitreous detachment, Retinal detach... |
OMIM:616468 |
| Cd8 Deficiency, Familial |
|
Recurrent bacterial infections, Recurrent viral infections, Recurrent respiratory infections |
OMIM:608957 |
| Myeloproliferative Syndrome, Transient |
|
Transient myeloproliferative syndrome, Leukocytosis |
OMIM:159595 |
| Whim Syndrome 1 |
|
Recurrent bacterial infections, Decreased circulating antibody level, Recurrent upper respiratory... |
OMIM:193670 |
| Candidiasis, Familial, 1 |
|
Cutaneous anergy |
OMIM:114580 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy |
OMIM:601382 |
| Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Mitral valv... |
OMIM:616648 |
| Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Anemia, Leukocytosis |
OMIM:619398 |
| Immunodeficiency, Common Variable, 2 |
|
Recurrent bronchitis, Recurrent sinusitis, Recurrent otitis media, Recurrent pneumonia, Recurrent... |
OMIM:240500 |
| Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Exudative retinal detachment, Retinal arterial macroaneurysms |
OMIM:614224 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio |
OMIM:300448 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young |
OMIM:613370 |
| Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
| Irvan Syndrome |
|
Tractional retinal detachment, Macular edema, Optic atrophy, Retinal exudate, Vitreous floaters, ... |
ORPHA:209943 |
| Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent pneumonia, Recurrent bacterial infections, Recurrent tonsillitis |
OMIM:613779 |
| Retinitis Pigmentosa 13 |
|
Rod-cone dystrophy, Optic disc drusen, Asteroid hyalosis, Retinal degeneration, Bone spicule pigm... |
OMIM:600059 |
| Immunodeficiency, Common Variable, 13 |
|
Recurrent bacterial infections, Decreased circulating antibody level |
OMIM:616873 |
| Retinal Dystrophy And Obesity |
|
Retinal pigment epithelial atrophy, Peripapillary atrophy, Retinal dots, Retinal dystrophy, Atten... |
OMIM:616188 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... |
ORPHA:251380 |
| Melanoma-Pancreatic Cancer Syndrome |
|
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Sarcoma, Squamous cell carcinom... |
OMIM:606719 |
| Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent mycobacterial infections, Recurrent opportunistic infections, Chronic oral candidiasis,... |
ORPHA:275 |
| Essential Fructosuria |
|
Hyperglycemia, Abnormal erythrocyte enzyme level |
ORPHA:2056 |
| 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 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Panhypogammaglobulinemia, Infectious encephalitis, Recurrent urinary tract infections, Chronic mu... |
OMIM:209920 |
| Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
| Alpha-Thalassemia |
|
Anemia, Hemolytic anemia, Hypersplenism, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:846 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia |
ORPHA:231401 |
| Cernunnos-Xlf Deficiency |
|
Recurrent bacterial infections, Recurrent viral infections, Decreased circulating antibody level |
ORPHA:169079 |
| Immunodeficiency, Common Variable, 1 |
|
Decreased circulating total IgM, Recurrent bronchitis, Recurrent sinusitis, Recurrent otitis medi... |
OMIM:607594 |
| Immunodeficiency, Common Variable, 6 |
|
Chronic decreased circulating total IgG, Complete or near-complete absence of specific antibody r... |
OMIM:613496 |
| Reticular Dysgenesis |
|
Impaired T cell function, Hypoplasia of the thymus, Lack of T cell function |
OMIM:267500 |
| Acute Lung Injury |
|
Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis factor secretion... |
ORPHA:178320 |
| Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Decreased circulating total IgM, Disseminated molluscum contagiosum, Recurrent sinusitis, Recurre... |
OMIM:243700 |
| Usher Syndrome, Type Iv |
|
Retinal atrophy, Retinal degeneration, Bone spicule pigmentation of the retina, Hyperautofluoresc... |
OMIM:618144 |
| Complement Factor H Deficiency |
|
Recurrent bacterial infections |
OMIM:609814 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Diabetic ketoacidosis, Type I diabetes mellitus, Elevated hemoglobin A1c, Hyperglycemia |
OMIM:618858 |
| Immunodeficiency 84 |
|
Persistent EBV viremia, Recurrent bacterial infections |
OMIM:619437 |
| Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia |
OMIM:240600 |
| Abcd Syndrome |
|
Total intestinal aganglionosis, Aganglionic megacolon, Abnormal auditory evoked potentials, Polyc... |
OMIM:600501 |
| Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Retinal dots, Optically empty vitreous, Snowflake vitreoretinal degeneration |
OMIM:193230 |
| Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Increased circulating antibody level, Recurrent bacterial infections |
OMIM:202700 |
| Immunodeficiency 67 |
|
Recurrent staphylococcal infections, Increased circulating IgE level, Recurrent streptococcal inf... |
OMIM:607676 |
| Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Lattice retinal degeneration, Vitreous floaters, Peripheral vitreoretinal deg... |
OMIM:614292 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Exudative vitreoretinopathy, Intraretinal exudate, Retinal fold, Retinal hole, Falciform retinal ... |
OMIM:305390 |
| Griscelli Syndrome, Type 2 |
|
Recurrent bacterial infections |
OMIM:607624 |
| Complement Factor B Deficiency |
|
Recurrent meningococcal disease, Recurrent bacterial infections, Meningitis |
OMIM:615561 |
| Diamond-Blackfan Anemia 3 |
|
Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:610629 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent opportunistic infections, Recurrent bacterial skin infections, Recurrent cutaneous fung... |
ORPHA:276 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Normocytic anemia, Eryt... |
ORPHA:75564 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Hyperglycemia, Transient neonatal diabetes mellitus, Maternal diabetes, Elevated hemoglobin A1c |
OMIM:610582 |
| Adult Idiopathic Neutropenia |
|
Recurrent bacterial infections, Helicobacter pylori infection, Recurrent infections, Increased ci... |
ORPHA:2688 |
| Immunodeficiency 69 |
|
Anemia, Pancytopenia, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly |
OMIM:618963 |
| 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 |
| Caspase 8 Deficiency |
|
Decreased T cell activation, Decreased circulating total IgM, Complete or near-complete absence o... |
OMIM:607271 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Panhypogammaglobulinemia, Recurrent Staphylococcus aureus infections, Decreased circulating antib... |
ORPHA:572 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly, Anemia, Hearing impairment, Hypoglycemia |
OMIM:618838 |
| Acute Myelomonocytic Leukemia |
|
Leukocytosis, Anemia, Thrombocytopenia, Eosinophilia |
ORPHA:517 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal motor evoked potentials, Abnormal auditory evoked potentials, Sensorineural hearing impa... |
ORPHA:320401 |
| Adult Acute Respiratory Distress Syndrome |
|
Sepsis, Abnormal circulating interleukin concentration, Increased circulating interleukin 6 conce... |
ORPHA:70578 |
| Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
| Exudative Vitreoretinopathy 1 |
|
Exudative vitreoretinopathy, Vitreous hemorrhage, Falciform retinal fold, Posterior vitreous deta... |
OMIM:133780 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Type I diabetes mellitus, Diabetes mellitus, Elevated hemoglobin A1c, Hyperglycemia |
OMIM:606176 |
| Myopia 28, Autosomal Recessive |
|
Retinal detachment |
OMIM:619781 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Conductive hearing impairment, Microtia, Persistence of hemoglobin F, Macrocytic anemia, Increase... |
OMIM:300946 |
| Nut Midline Carcinoma |
|
Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Pancreatic squamous cell carcinom... |
ORPHA:443167 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cells, Erythroid hy... |
OMIM:613673 |
| Transient Neonatal Diabetes Mellitus |
|
Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Maternal diabetes, Maturity-onset di... |
ORPHA:99886 |
| Immunodeficiency With Hyper-Igm, Type 4 |
|
Recurrent bacterial infections, Recurrent upper respiratory tract infections, Recurrent infection... |
OMIM:608184 |
| Beta-Thalassemia |
|
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio |
OMIM:613985 |
| Alpha-Thalassemia |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:604131 |
| Vitreoretinopathy, Neovascular Inflammatory |
|
Large hyperpigmented retinal spots, Posterior retinal neovascularization, Vitreous hemorrhage, Pe... |
OMIM:193235 |
| Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Persistence of hemoglobin F, Chronic hemolytic anemia, Thrombo... |
ORPHA:232 |
| Specific Granule Deficiency 1 |
|
Recurrent bacterial infections |
OMIM:245480 |
| Immunodeficiency 27B |
|
Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections |
OMIM:615978 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Lymphoma, Decreased T cell activation, Decreased CD69 upregulation upon TCR activation, Lymphopro... |
OMIM:300853 |
| Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young |
OMIM:609812 |
| Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Recurrent Staphylococcus aureus infections, Recurrent sinopulmonary infections, Chronic mucocutan... |
OMIM:147060 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Panhypogammaglobulinemia, Recurrent respiratory infections, Decreased circulating antibody level,... |
OMIM:601495 |
| Thymic Aplasia |
|
Hypocalcemic tetany, Invasive fungal infection, Opportunistic infection, Severe infection, Recurr... |
ORPHA:83471 |
| Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Recurrent bronchitis, Recurrent Haemophilus influenzae infections |
OMIM:300455 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Recurrent bacterial infections, Increased circulating IgA level, Elevated circulating C-reactive ... |
OMIM:618048 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormality, Facial palsy |
OMIM:617519 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Temporal optic disc pallor, Sensorineural hearing impairment, Optic atrophy, Absent brainstem aud... |
ORPHA:1215 |
| Vulvovaginal Gingival Syndrome |
|
Abnormality of tumor necrosis factor secretion |
ORPHA:83453 |
| Pancreatic Cancer, Susceptibility To, 1 |
|
Pancreatic adenocarcinoma |
OMIM:606856 |
| Hb Bart'S Hydrops Fetalis |
|
Anemia, Pericarditis, Hepatomegaly, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Cutaneous anergy |
OMIM:183350 |
| Agammaglobulinemia 9, Autosomal Recessive |
|
Recurrent bacterial infections, Agammaglobulinemia |
OMIM:619693 |
| Polycythemia Vera |
|
Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Thrombocytopen... |
OMIM:263300 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Persistent EBV viremia, Recurrent bacterial infections, Recurrent upper respiratory tract infecti... |
OMIM:616005 |
| Beta-Thalassemia |
|
Anemia, Hypertrophic cardiomyopathy, Hepatomegaly, Thrombocytopenia, Abnormal hemoglobin, Splenom... |
ORPHA:848 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment, Optic atrophy |
OMIM:125250 |
| Pancreatic Cancer, Susceptibility To, 2 |
|
Neoplasm of the pancreas |
OMIM:613347 |
| Morning Glory Disc Anomaly |
|
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation |
ORPHA:35737 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Hearing impairment |
OMIM:601455 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Panhypogammaglobulinemia, Enteroviral dermatomyositis syndrome, Recurrent urinary tract infection... |
OMIM:307200 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Recurrent shingles, Decreased circulating IgG level, Decreased circulating total IgM, Severe infe... |
ORPHA:183675 |
| Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel... |
ORPHA:521 |
| Macrophage Activation Syndrome |
|
Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis factor secretion... |
ORPHA:158061 |
| Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Recurrent bacterial infections |
OMIM:610738 |
| Selective Igm Deficiency |
|
Recurrent vulvovaginal candidiasis, Recurrent sinusitis, Recurrent staphylococcal infections, Men... |
ORPHA:331235 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Abnormal circulating IgG level, Recurrent bacterial infections, Increased circulating IgA level, ... |
OMIM:300291 |
| X-Linked Severe Congenital Neutropenia |
|
Recurrent bacterial infections |
ORPHA:86788 |
| Leukocyte Adhesion Deficiency, Type I |
|
Recurrent gram-negative bacterial infections, Chronic mucocutaneous candidiasis, Recurrent staphy... |
OMIM:116920 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Hyperglycemia, Transient neonatal diabetes mellitus |
OMIM:601410 |
| Immunodeficiency 11 |
|
Agammaglobulinemia, Reduced antigen-specific T cell proliferation, Decreased circulating antibody... |
OMIM:615206 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Enteroviral encephalitis, Chronic oral candidiasis, Decreased circulating IgE, Recurrent bacteria... |
OMIM:308230 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis factor secretion... |
ORPHA:540 |
| Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Type II diabetes mellitus, Sensorineural hearing impairment, Cardiomyopathy |
OMIM:520000 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Anemia, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardiomyopat... |
OMIM:620135 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Hypoplasia of the thymus, Reduced antigen-specific T cell proliferation, Increased circulating Ig... |
OMIM:617241 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hyperglycemia, Glucose intolerance |
OMIM:307500 |
| Bone Marrow Failure Syndrome 6 |
|
Anemia, Lymphopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia |
OMIM:618849 |
| Diabetes Mellitus, Permanent Neonatal, 2 |
|
Hyperglycemia, Hypsarrhythmia, Type I diabetes mellitus |
OMIM:618856 |
| Complement Component 5 Deficiency |
|
Recurrent meningococcal disease, Recurrent Neisserial infections |
OMIM:609536 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased circulating total IgM, Decreased circulating antibody level, Recurrent upper and lower ... |
ORPHA:331206 |
| Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Ventricular septal defect, Mitral valve prolapse, Atrial septal defect, ... |
OMIM:612561 |
| Juvenile Arthritis |
|
Thrombocytosis, Leukocytosis |
OMIM:618795 |
| Neutropenia, Severe Congenital, X-Linked |
|
Recurrent bacterial infections |
OMIM:300299 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent mycobacterial infections, Recurrent opportunistic infections, Recurrent bacterial skin ... |
ORPHA:911 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... |
OMIM:601596 |
| Specific Granule Deficiency 2 |
|
Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial infections, Sepsis |
OMIM:617475 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Severe varicella zoster infection, Recurrent respiratory infections, Chronic oral candidiasis, Re... |
OMIM:606367 |
| Lynch Syndrome 5 |
|
Neoplasm of the pancreas, Ovarian neoplasm, Endometrial carcinoma, Hereditary nonpolyposis colore... |
OMIM:614350 |
| Cinca Syndrome |
|
Anemia, Progressive sensorineural hearing impairment, Hepatosplenomegaly, Eosinophilia, Leukocyto... |
OMIM:607115 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Recurrent mycobacterial infections, Sepsis, Recurrent bacterial infections, Meningitis, Recurrent... |
ORPHA:169090 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent opportunistic infections, Recurrent urinary tract infections, Increased circulating gua... |
OMIM:613179 |
| Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Erythroid hyperplasia, Hepatosplenomegaly, Persistence of hemoglobin F... |
ORPHA:231222 |
| Complement Factor I Deficiency |
|
Recurrent Haemophilus influenzae infections, Recurrent urinary tract infections, Recurrent mening... |
OMIM:610984 |
| Diabetes Mellitus, Permanent Neonatal, 3 |
|
Glycosuria, Interictal epileptiform activity, Type I diabetes mellitus, Hyperglycemia |
OMIM:618857 |
| Congenital Primary Aphakia |
|
Retinal dysplasia |
ORPHA:83461 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Heinz bodies, Fava bean-induced hemolytic anemia, Reticulocytosis, Poikilocytosis, Anisocytosis, ... |
OMIM:300908 |
| Attrv122I Amyloidosis |
|
Anemia, Restrictive cardiomyopathy, Abnormal autonomic nervous system physiology, Abnormality of ... |
ORPHA:85451 |
| Immunodeficiency 10 |
|
Recurrent bacterial infections, Recurrent infections |
OMIM:612783 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Recurrent ear infections, Recurrent sinopulmonary infections, Recurrent bacterial infections, Rec... |
ORPHA:486 |
| Sweet Syndrome |
|
Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis factor secretion... |
ORPHA:3243 |
| Familial Renal Glucosuria |
|
Glycosuria, Insulin resistance, Elevated hemoglobin A1c, Hyperglycemia, Abnormal oral glucose tol... |
ORPHA:69076 |
| Primary Familial Polycythemia |
|
Abnormal hemoglobin, Polycythemia |
ORPHA:90042 |
| Immunodeficiency 23 |
|
Persistent EBV viremia, Severe varicella zoster infection, Recurrent Staphylococcus aureus infect... |
OMIM:615816 |
| Mohr-Tranebjaerg Syndrome |
|
Postlingual sensorineural hearing impairment, Sensorineural hearing impairment, Prelingual sensor... |
ORPHA:52368 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Impaired neutrophil chemotaxis, Neutrophilia, Abnormally low T cell receptor excision circle leve... |
OMIM:608203 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Anemia, Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Hepatomegaly, Splenomegaly |
OMIM:612840 |
| Omenn Syndrome |
|
Recurrent bacterial infections, Recurrent viral infections, Hypoproteinemia, Recurrent fungal inf... |
OMIM:603554 |
| Coats Disease |
|
Exudative retinal detachment, Retinal telangiectasia |
OMIM:300216 |
| Acrocraniofacial Dysostosis |
|
Abnormal auditory evoked potentials, Conductive hearing impairment, Sensorineural hearing impairment |
OMIM:201050 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hyperinsulinemia, Diabetic ketoacidosis, Hypoglycemia, Postprandial hyperglycemia, Insulin-resist... |
OMIM:262190 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Hypochromic microcytic anemia, Absent brainstem auditory responses, Thrombocytopenia, Vestibular ... |
ORPHA:3240 |
| Chronic Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hemolytic anemia |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hemolytic anemia |
ORPHA:529799 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent bacterial skin infections, Recurrent Serratia marcescens infections, Recurrent Staphylo... |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent bacterial skin infections, Recurrent Serratia marcescens infections, Recurrent Staphylo... |
OMIM:233710 |
| Mogs-Cdg |
|
Sensorineural hearing impairment, Optic atrophy, Absent brainstem auditory responses, Left ventri... |
ORPHA:79330 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Abnormal auditory evoked potentials, Optic disc pallor |
OMIM:617523 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Decreased circulating total IgM, Decreased circulating IgG2 level, Absent specific antibody respo... |
OMIM:102700 |
| Sickle Cell Disease |
|
Splenomegaly, Hemolytic anemia, Target cells, Splenic infarction, Leukocytosis, Hepatomegaly, Car... |
OMIM:603903 |
| Acute Monoblastic/Monocytic Leukemia |
|
Anemia, Progressive hearing impairment, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Hy... |
ORPHA:514 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent bacterial skin infections, Recurrent Serratia marcescens infections, Recurrent Staphylo... |
OMIM:233690 |
| Mody |
|
Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Glycosuria, Neonatal hypoglycemia, H... |
ORPHA:552 |
| Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
Recurrent ear infections, Decreased circulating total IgM, Chronic oral candidiasis, Decreased ci... |
ORPHA:221139 |
| Kenny-Caffey Syndrome, Type 1 |
|
Recurrent bacterial infections, Hypocalcemia, Hypomagnesemia |
OMIM:244460 |
| Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgA level, Increased circulating IgM level, Reduced delayed hypersensitivit... |
OMIM:601859 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:109120 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Increased circulating IgE level, Lack of T cell function |
ORPHA:277 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Abnormal auditory evoked potentials, Optic disc pallor, Sensorineural hearing impairment |
OMIM:619260 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Recurrent bacterial infections |
OMIM:603585 |
| Postinfectious Vasculitis |
|
Recurrent mycobacterial infections, Severe Epstein Barr virus infection, Severe varicella zoster ... |
ORPHA:48435 |
| Beta-Thalassemia Major |
|
Hypersplenism, Reduced hemoglobin A, Anisopoikilocytosis, Decreased mean corpuscular hemoglobin c... |
ORPHA:231214 |
| Immunodeficiency 21 |
|
Recurrent viral infections, Recurrent fungal infections, Recurrent mycobacterium avium complex in... |
OMIM:614172 |
| Pgm3-Cdg |
|
Recurrent fungal infections, Increased circulating IgE level, Recurrent pneumonia, Recurrent bact... |
ORPHA:443811 |
| Dominant Beta-Thalassemia |
|
Hypersplenism, Reduced hemoglobin A, Decreased mean corpuscular hemoglobin concentration, Dilated... |
ORPHA:231226 |
| Idiopathic Bronchiectasis |
|
Recurrent lower respiratory tract infections, Recurrent Haemophilus influenzae infections |
ORPHA:60033 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Recurrent bacterial infections, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:241410 |
| Late-Infantile/Juvenile Krabbe Disease |
|
EEG with persistent abnormal rhythmic activity, Prolonged brainstem auditory evoked potentials, D... |
ORPHA:206443 |
| Immunodeficiency 47 |
|
Chronic decreased circulating total IgG, Decreased circulating total IgM, Decreased circulating a... |
OMIM:300972 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Low-set, posteriorly rotated ears, HbH hemoglobin, Microcytic anemia, Aplasia/Hypoplasia of the e... |
ORPHA:98791 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
| Necrotizing Enterocolitis |
|
Abnormal glucose homeostasis, Abnormal heart morphology, Leukocytosis, Hyperglycemia, Thrombocyto... |
ORPHA:391673 |
| Mirage Syndrome |
|
Recurrent urinary tract infections, Hyperkalemia, Recurrent bacterial infections, Hyponatremia, S... |
OMIM:617053 |
| Dend Syndrome |
|
Thickened ears, Hypsarrhythmia, Elevated hemoglobin A1c, Hyperglycemia |
ORPHA:79134 |
| Whim Syndrome |
|
Decreased circulating antibody level, Recurrent pneumonia, Recurrent bacterial infections, Recurr... |
ORPHA:51636 |
| Cockayne Syndrome Type 1 |
|
Anemia, Macrotia, Abnormality of peripheral nerve conduction, Optic atrophy, Absent brainstem aud... |
ORPHA:90321 |
| Chédiak-Higashi Syndrome |
|
Recurrent bacterial skin infections, Hypertriglyceridemia, Recurrent streptococcal infections, Re... |
ORPHA:167 |
| Insulin-Resistance Syndrome Type B |
|
Leukopenia, Hyperinsulinemia, Fasting hypoglycemia, Enlarged polycystic ovaries, Enlarged ovaries... |
ORPHA:2298 |
| Mannosidosis, Alpha B, Lysosomal |
|
Recurrent bacterial infections, Decreased circulating antibody level |
OMIM:248500 |
| Vici Syndrome |
|
Decreased circulating IgG2 level, Chronic mucocutaneous candidiasis, Elevated circulating creatin... |
OMIM:242840 |
| Arthrogryposis, Distal, Type 2A |
|
Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
| Blackfan-Diamond Anemia |
|
Acute myeloid leukemia, Leukopenia, Ventricular septal defect, Reticulocytopenia, Microtia, Pure ... |
ORPHA:124 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Patent ductus arteriosus, Hypohidrosis, Decreased specific anti-polysaccharide antibody level, Im... |
OMIM:614576 |
| Hypocomplementemic Urticarial Vasculitis |
|
Recurrent bacterial infections, Meningitis |
ORPHA:36412 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Increased circulating interleukin 6 concentration, Abnormality of serum cytokine level, Hyperbili... |
ORPHA:542323 |
| Granulomatous Disease, Chronic, X-Linked |
|
Recurrent bacterial skin infections, Recurrent Serratia marcescens infections, Recurrent Staphylo... |
OMIM:306400 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Low-set ears, Cupped ear, Overfolded helix, Persistence of hemoglobin F |
OMIM:617101 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Recurrent bacterial infections, Hypoproteinemia, Elevated circulating creatine kinase concentration |
OMIM:615895 |
| Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Anemia, Pancytopenia, Persistence of hemoglobin F, Myocardial necrosis, H... |
OMIM:260400 |
| Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, EEG abnormality |
ORPHA:206448 |
| Roifman Syndrome |
|
Decreased T cell activation, Decreased circulating antibody level |
ORPHA:353298 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Ventricular septal defect, Atrial septal defect, Persistence of hemoglobin F |
OMIM:619769 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Optic atrophy |
OMIM:616881 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Sensorineural hearing impairment, Abnormal autonomic nervous system physiology, Aganglionic megac... |
OMIM:609136 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal audito... |
ORPHA:99027 |
| Hereditary Orotic Aciduria |
|
Patent ductus arteriosus, Impaired T cell function |
ORPHA:30 |
| Hermansky-Pudlak Syndrome 2 |
|
Chronic oral candidiasis, Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial infect... |
OMIM:608233 |
| Pancreatic And Cerebellar Agenesis |
|
Anemia, Secundum atrial septal defect, Optic nerve hypoplasia, Diabetes mellitus, Hypoglycemia, A... |
OMIM:609069 |
| Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Hearing impa... |
ORPHA:206436 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased circulating IgA level, Increased circulating IgM level, Reduced delayed hypersensitivit... |
OMIM:603909 |
| Lysinuric Protein Intolerance |
|
Hyperalaninemia, Hyperglycinemia, Intraalveolar phospholipid accumulation, Decreased circulating ... |
ORPHA:470 |
| Hereditary Chronic Pancreatitis |
|
Diabetes mellitus, Leukocytosis |
ORPHA:676 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Absent brainstem auditory responses, Decreased nerve conduction velocity, Sensorineural hearing i... |
ORPHA:101085 |
| X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
HbH hemoglobin, Low-set ears, Optic disc pallor, Sensorineural hearing impairment |
ORPHA:423479 |
| Obesity Due To Congenital Leptin Deficiency |
|
Decreased testicular size, Hypoplasia of the ovary, Decreased T cell activation, Pituitary hypoth... |
ORPHA:66628 |
| Immunodeficiency 87 And Autoimmunity |
|
Persistent EBV viremia, Hypertriglyceridemia, Sepsis, Hypokalemia, Recurrent bacterial infections... |
OMIM:619573 |
| Trisomy 10P |
|
Macrotia, Low voltage EEG, EEG with burst suppression, EEG with focal spikes, Abnormal auditory e... |
ORPHA:171929 |
| Chromomycosis |
|
Recurrent bacterial infections |
ORPHA:182 |
| Gaucher Disease, Type Iiic |
|
Splenomegaly, Mitral stenosis, Pancytopenia, Hepatomegaly, Cardiomegaly, Aortic valve calcificati... |
OMIM:231005 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased testicular size, Hypoplasia of the ovary, Decreased T cell activation, Pituitary hypoth... |
ORPHA:179494 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Recurrent urinary tract infections, Recurrent bacterial infections, Recurrent upper respiratory t... |
OMIM:612541 |
| Schimke Immuno-Osseous Dysplasia |
|
Abnormality of thyroid physiology, Pancreatitis, Abnormal lymphocyte physiology, Lymphoproliferat... |
ORPHA:1830 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Cutaneous anergy, Abnormality of B cell physiology, Panhypogammaglobulinemia, Decreased lymphocyt... |
OMIM:600802 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Sensorineural hearing impairment, Ventricular septal defect, Reduced alpha/beta synthesis ratio, ... |
OMIM:301040 |
| Congenital Tricuspid Valve Dysplasia |
|
Patent foramen ovale, Cardiomegaly, Pericardial effusion, Abnormal tricuspid valve leaflet morpho... |
ORPHA:555874 |
| Infantile Systemic Hyalinosis |
|
Recurrent bacterial infections |
ORPHA:2176 |
| Primary Ciliary Dyskinesia |
|
Recurrent mycobacterial infections, Recurrent sinopulmonary infections, Recurrent otitis media |
ORPHA:244 |
| Glycogen Storage Disease Ib |
|
Recurrent bacterial infections, Hyperuricemia, Hyperlipidemia |
OMIM:232220 |
| Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
| Cerebrotendinous Xanthomatosis |
|
Abnormality of somatosensory evoked potentials, Optic atrophy, Abnormal auditory evoked potential... |
ORPHA:909 |
| Lead Poisoning |
|
Imbalanced hemoglobin synthesis, Abnormality of the autonomic nervous system, Abnormal T cell mor... |
ORPHA:330015 |
| Thymoma |
|
Imbalanced hemoglobin synthesis, Aplastic anemia, Pure red cell aplasia, Leukemia |
ORPHA:99867 |
| Cockayne Syndrome B |
|
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Decreased n... |
OMIM:133540 |
| Cockayne Syndrome A |
|
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Decreased n... |
OMIM:216400 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Anemia, Sensorineural hearing impairment, Optic atrophy, Aganglionic megacolon, Abnormal hemoglobin |
ORPHA:847 |
| Shwachman-Diamond Syndrome |
|
Hypoamylasemia, Recurrent bacterial infections, Increased serum bile acid concentration, Recurren... |
ORPHA:811 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Lack of T cell function, Decreased circulating total IgM, Decreased lymphocyte proliferation in r... |
ORPHA:35078 |
| Chediak-Higashi Syndrome |
|
Recurrent systemic pyogenic infections, Recurrent bacterial skin infections, Recurrent infections |
OMIM:214500 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Reduced delayed hypersensitivity |
OMIM:242700 |
| Mend Syndrome |
|
Aortic valve stenosis, Abnormal auditory evoked potentials, Abnormal heart morphology, Low-set ears |
ORPHA:401973 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Decreased testicular size, Impaired T cell function |
OMIM:201100 |
| Immunodeficiency 58 |
|
Decreased specific antibody response to vaccination, Decreased circulating antibody level, Decrea... |
OMIM:618131 |
| Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Abnormality of tumor necrosis factor secretion |
ORPHA:85436 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hyperuricemia, Recurrent bacterial infections, Hyperlipidemia, Hypercholesterolemia, Hypertriglyc... |
ORPHA:79259 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Hyperglycemia, Type II diabetes mellitus, Coronary artery stenosis |
OMIM:615812 |
| Leukocyte Adhesion Deficiency |
|
Recurrent fungal infections, Chronic oral candidiasis, Recurrent urinary tract infections, Recurr... |
ORPHA:2968 |
| Orotic Aciduria |
|
Impaired T cell function |
OMIM:258900 |
| Wiskott-Aldrich Syndrome |
|
Decreased circulating total IgM, Reduced natural killer cell activity, Abnormal delayed hypersens... |
OMIM:301000 |
| Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Defective T cell proliferation, Increased circulating IgG level, Increased circulating IgE level,... |
OMIM:618213 |
| Primary Sclerosing Cholangitis |
|
Recurrent systemic pyogenic infections, Polyclonal elevation of IgM, Hypoalbuminemia |
ORPHA:171 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Recurrent bacterial infections |
ORPHA:99104 |
| Cystic Fibrosis |
|
Recurrent Haemophilus influenzae infections, Recurrent Staphylococcus aureus infections, Recurren... |
ORPHA:586 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Patent foramen ovale, Truncus arteriosus, Ventricular septal defect, Perimembranous ventricular s... |
OMIM:600001 |
| Velocardiofacial Syndrome |
|
Impaired T cell function, Hypoparathyroidism, Cryptorchidism |
OMIM:192430 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Parathyroid hypoplasia, Abnormality of T cell physiology, Hypoparathyroidism |
ORPHA:2237 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Recurrent bacterial infections |
ORPHA:99103 |
| Progeroid Short Stature With Pigmented Nevi |
|
Impaired T cell function, Numerous nevi |
OMIM:176690 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent infections |
ORPHA:2273 |
| 22Q11.2 Deletion Syndrome |
|
Patent ductus arteriosus, Hypothyroidism, Hypoplasia of the thymus, Hyperthyroidism, Impaired T c... |
ORPHA:567 |
| Sarcoidosis, Susceptibility To, 1 |
|
Increased circulating antibody level, Abnormal salivary gland morphology, Abnormality of T cell p... |
OMIM:181000 |
| Digeorge Syndrome |
|
Patent ductus arteriosus, Hypothyroidism, Hypoplasia of the thymus, Hydrocele testis, Parathyroid... |
OMIM:188400 |
| Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Recurrent Staphylococcus aureus infections |
ORPHA:642 |
