Guillain-Barre Syndrome, Familial |
|
Acute demyelinating polyneuropathy |
OMIM:139393 |
Monocyte Chemotactic Disorder |
|
Cutaneous anergy |
OMIM:252250 |
Immunodeficiency 40 |
|
Lymphopenia |
OMIM:616433 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Okt4 Epitope Deficiency |
|
Abnormal T cell morphology |
OMIM:613949 |
Spermatogenic Failure 65 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619712 |
Neuropathy, Hereditary Sensory, X-Linked |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:310470 |
Spermatogenic Failure 56 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619515 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
Spermatogenic Failure, X-Linked, 3 |
|
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... |
OMIM:301059 |
Spermatogenic Failure 51 |
|
Microcephalic sperm head, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm mot... |
OMIM:619177 |
Spermatogenic Failure 54 |
|
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... |
OMIM:619379 |
Spermatogenic Failure 72 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... |
OMIM:619867 |
Spermatogenic Failure 40 |
|
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... |
OMIM:618664 |
Spermatogenic Failure 58 |
|
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... |
OMIM:619585 |
Spermatogenic Failure 46 |
|
Coiled sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagell... |
OMIM:619095 |
Spermatogenic Failure 39 |
|
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... |
OMIM:618643 |
Spermatogenic Failure 47 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella |
OMIM:619102 |
Spermatogenic Failure 43 |
|
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... |
OMIM:618751 |
Spermatogenic Failure 49 |
|
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619094 |
Partial Chromosome Y Deletion |
|
Oligospermia, Non-obstructive azoospermia, Male infertility, Decreased testicular size, Abnormal ... |
ORPHA:1646 |
Spermatogenic Failure 11 |
|
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility |
OMIM:615081 |
Male Infertility Due To Acephalic Spermatozoa |
|
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... |
ORPHA:529970 |
Spermatogenic Failure 35 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618341 |
Spermatogenic Failure 33 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618152 |
Spermatogenic Failure 34 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618153 |
Spermatogenic Failure 18 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617576 |
Spermatogenic Failure 19 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617592 |
Spermatogenic Failure 41 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head |
OMIM:618670 |
Spermatogenic Failure 42 |
|
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... |
OMIM:618745 |
Immunodeficiency 8 |
|
Lymphopenia |
OMIM:615401 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
B lymphocytopenia, T lymphocytopenia |
OMIM:233650 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Oligospermia, Decreased testicular size |
OMIM:619689 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Abnormality of T cell physiology |
OMIM:308220 |
Wiskott-Aldrich Syndrome 2 |
|
Reduced natural killer cell activity, Defective T cell proliferation |
OMIM:614493 |
Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Spermatogenic Failure 7 |
|
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility |
OMIM:612997 |
Immunodeficiency 11 |
|
Decreased circulating antibody level |
OMIM:615206 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Immotile sperm, Male infertility, Abnormal sperm morphology |
OMIM:608653 |
Deafness-Infertility Syndrome |
|
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... |
OMIM:611102 |
Immunoglobulin Kappa Light Chain Deficiency |
|
Abnormal immunoglobulin level |
OMIM:614102 |
Lymphoma, Hodgkin, Classic |
|
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM |
OMIM:236000 |
Spermatogenic Failure 10 |
|
Infertility, Abnormal sperm morphology |
OMIM:614822 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia |
OMIM:242870 |
Immunodeficiency 24 |
|
Defective T cell proliferation, Decreased circulating IgG level, Lymphopenia, Decreased specific ... |
OMIM:615897 |
Spermatogenic Failure 64 |
|
Reduced progressive sperm motility, Abnormal sperm head morphology, Oligospermia, Male infertility |
OMIM:619696 |
Gamma-A-Globulin, Defect In Assembly Of |
|
Decreased circulating IgA level |
OMIM:137050 |
Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility |
OMIM:619108 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgA level, Decreased circulating IgG level |
OMIM:146830 |
Spermatogenic Failure 24 |
|
Coiled sperm flagella, Reduced sperm motility, Microcephalic sperm head, Short sperm flagella, Ta... |
OMIM:617959 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Leukemia, Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M... |
OMIM:153600 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Spermatogenic Failure 70 |
|
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:619828 |
Spermatogenic Failure 21 |
|
Acephalic spermatozoa, Infertility, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Acephalic spermatozoa, Infertility, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 1 |
|
Cryptozoospermia, Oligospermia, Male infertility |
OMIM:258150 |
Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... |
OMIM:606843 |
Spermatogenic Failure 44 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:619044 |
Pelizaeus-Merzbacher disease |
|
Leukodystrophy, Abnormal CNS myelination |
DECIPHER:38 |
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Increased circulating interleukin 6 concentration, Decreased circulating IgG level, Recurrent ski... |
OMIM:618944 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
Intellectual Developmental Disorder, Autosomal Recessive 4 |
|
Delayed myelination |
OMIM:611107 |
Lymphoid System Deterioration, Progressive |
|
Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:247630 |
Deafness, Neural, With Atypical Atopic Dermatitis |
|
Increased circulating IgE level |
OMIM:221700 |
Immunodeficiency 18 |
|
Lymphopenia, Decreased proportion of CD3-positive T cells |
OMIM:615615 |
Immunoglobulin M, Level Of |
|
Decreased circulating total IgM |
OMIM:308250 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Agammaglobulinemia, Decreased circulating antibody level |
OMIM:616911 |
Immunoerythromyeloid Hypoplasia |
|
Decreased circulating IgG level |
OMIM:242880 |
Candidiasis, Familial, 1 |
|
Cutaneous anergy |
OMIM:114580 |
Spermatogenic Failure 22 |
|
Cryptozoospermia, Male infertility, Non-obstructive azoospermia |
OMIM:617706 |
Autoimmune Lymphoproliferative Syndrome |
|
Antiphospholipid antibody positivity, Neutropenia in presence of anti-neutropil antibodies, Incre... |
OMIM:601859 |
Immunodeficiency 64 |
|
Decreased lymphocyte proliferation in response to mitogen, Increased circulating IgA level, Decre... |
OMIM:618534 |
Immunodeficiency 14A, Autosomal Dominant |
|
Splenomegaly, Decreased specific pneumococcal antibody level, T lymphocytopenia, Decreased propor... |
OMIM:615513 |
Spermatogenic Failure 38 |
|
Coiled sperm flagella, Reduced sperm motility, Abnormal axonemal organization of respiratory moti... |
OMIM:618433 |
Immunodeficiency, Common Variable, 4 |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:613494 |
Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrocephalic sperm head |
OMIM:243060 |
Severe Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:300400 |
Spermatogenic Failure 8 |
|
Azoospermia, Oligospermia, Cryptozoospermia |
OMIM:613957 |
Spermatogenic Failure 26 |
|
Acephalic spermatozoa, Infertility |
OMIM:617961 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Decreased helper T cell proportion, T lymphocytopenia |
OMIM:601705 |
Ige Responsiveness, Atopic |
|
Allergic rhinitis, Increased circulating IgE level, Eczema |
OMIM:147050 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly |
OMIM:183350 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Decreased circulating IgA level, Impaired Ig class switch recombination, Decreased circulating Ig... |
OMIM:608106 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Abnormally low T cell receptor excision circle level, T lymphocytopenia |
OMIM:618806 |
Spermatogenic Failure 25 |
|
Azoospermia, Cryptozoospermia, Decreased testicular size |
OMIM:617960 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Decreased circulating IgG level |
OMIM:235550 |
Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Reduced natural killer cell activity |
OMIM:608898 |
Palmoplantar Keratoderma, Epidermolytic |
|
Increased circulating IgE level |
OMIM:144200 |
Agammaglobulinemia 5, Autosomal Dominant |
|
Agammaglobulinemia |
OMIM:613506 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb... |
OMIM:619220 |
Immunodeficiency 35 |
|
Increased circulating IgE level |
OMIM:611521 |
Immunodeficiency 25 |
|
Increased circulating IgA level, Smooth muscle antibody positivity, Eosinophilia, Complete or nea... |
OMIM:610163 |
Histiocytosis, Familial Lipochrome |
|
Histiocytosis, Increased circulating antibody level |
OMIM:235900 |
Insensitivity To Pain With Hyperplastic Myelinopathy |
|
Abnormal peripheral myelination |
OMIM:147530 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... |
OMIM:616452 |
Leptin Receptor Deficiency |
|
Decreased response to growth hormone stimulation test, Abnormal hypothalamus morphology, Hypergon... |
OMIM:614963 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Decreased circulating IgA level, Impaired Ig class switch recombination, Decreased circulating Ig... |
OMIM:605258 |
Spermatogenic Failure 30 |
|
Azoospermia, Cryptozoospermia |
OMIM:618110 |
Huntington Disease |
|
Gait imbalance, Inability to walk, Mental deterioration, Difficulty walking, Abnormal libido, Cho... |
ORPHA:399 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Abnormal sperm tail morphology, Non-obstructive azoospermia, Globozoospermia, Decreased testicula... |
ORPHA:399808 |
Spermatogenic Failure 57 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Hypoplasia of the thymus, Decreased proportion of CD8-positive T cells, Decreased proportion of C... |
OMIM:617241 |
Immunodeficiency 14B, Autosomal Recessive |
|
Reduced natural killer cell activity, Decreased circulating IgA level, Decreased circulating IgG ... |
OMIM:619281 |
Dystonia 30 |
|
Torticollis, Oromandibular dystonia, Leg dystonia, Loss of ambulation, Impulsivity, Hypothalamic ... |
OMIM:619291 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size |
OMIM:619145 |
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy |
|
Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia |
ORPHA:209004 |
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag |
|
Monoclonal immunoglobulin M proteinemia |
ORPHA:639 |
Spermatogenic Failure 73 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619937 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Rheumatoid factor positive, Smooth muscle antibody positivity, Splenomegaly, Increased circulatin... |
OMIM:603909 |
Immunodeficiency 20 |
|
Reduced natural killer cell activity |
OMIM:615707 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Agammaglobulinemia |
OMIM:615214 |
Isochromosomy Yp |
|
Ambiguous genitalia, Male infertility, Azoospermia, Decreased testicular size |
ORPHA:98797 |
Immunodeficiency 15B |
|
Agammaglobulinemia, Decreased circulating antibody level |
OMIM:615592 |
Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619672 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Infertility, Cerebral cortical atrophy, Cerebral atrophy, Reduced sperm motility, Corpus callosum... |
ORPHA:320391 |
Immunodeficiency 95 |
|
Decreased circulating IgG3 level, Lymphopenia, Increased circulating IgG3 level |
OMIM:619773 |
Immunodeficiency, Common Variable, 5 |
|
Chronic decreased circulating total IgG |
OMIM:613495 |
Immunodeficiency, Common Variable, 3 |
|
Decreased circulating IgA level, Reduced isohemagglutinin level, Decreased circulating total IgM,... |
OMIM:613493 |
Spermatogenic Failure 4 |
|
Azoospermia, Male infertility |
OMIM:270960 |
Young Syndrome |
|
Obstructive azoospermia, Decreased fertility |
ORPHA:3471 |
Immunodeficiency, Common Variable, 7 |
|
Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin... |
OMIM:614699 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Agammaglobulinemia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased c... |
OMIM:619707 |
Isochromosomy Yq |
|
Ambiguous genitalia, Varicocele, Male infertility, Decreased testicular size, Azoospermia, Gonada... |
ORPHA:98798 |
Immunoglobulin A Deficiency 2 |
|
Decreased circulating IgA level |
OMIM:609529 |
Autosomal Recessive Spastic Paraplegia Type 71 |
|
Abnormal myelination |
ORPHA:401840 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Abnormal natural killer cell physiology, Decreased circulating antibody level |
OMIM:613101 |
Spermatogenic Failure 71 |
|
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility |
OMIM:619831 |
Spermatogenic Failure 12 |
|
Azoospermia, Infertility, Abnormal male germ cell morphology |
OMIM:615413 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:613502 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Decreased circulating total IgM |
OMIM:606445 |
Immunodeficiency, Common Variable, 14 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:617765 |
Familial Male-Limited Precocious Puberty |
|
Precocious puberty, Oligospermia, Long penis, Male infertility, Macroorchidism |
ORPHA:3000 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Abnormally low T cell receptor excision circle level, Decreased circulating total IgM, Decreased ... |
OMIM:618987 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Increased circulating IgA level, Abnormal circulating IgG level, Reduced natural killer cell acti... |
OMIM:300291 |
Immunodeficiency 81 |
|
Reduced natural killer cell activity, Impaired collagen-induced platelet aggregation, Reduced ant... |
OMIM:619374 |
Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Neutropenia |
OMIM:162700 |
Immunodeficiency 44 |
|
Decreased circulating IgA level, Decreased circulating total IgM, Abnormal circulating IgG level |
OMIM:616636 |
Asthma, Short Stature, And Elevated Iga |
|
Increased circulating IgA level |
OMIM:208600 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM |
OMIM:610798 |
Spermatogenic Failure 2 |
|
Non-obstructive azoospermia, Oligospermia, Azoospermia, Male infertility |
OMIM:108420 |
Caspase 8 Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:607271 |
Reticular Dysgenesis |
|
Lack of T cell function, Impaired T cell function |
OMIM:267500 |
Immunodeficiency 15A |
|
Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of CD4-posi... |
OMIM:618204 |
Morbid Obesity And Spermatogenic Failure |
|
Azoospermia, Oligospermia, Infertility |
OMIM:615703 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Neutropenia, Decreased circulating IgG level, Lymphocytosis, Hemophagocytosis, Splenomegaly, Apla... |
OMIM:308240 |
Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
Kimura Disease |
|
Increased circulating IgE level |
ORPHA:482 |
Spermatogenic Failure 32 |
|
Azoospermia, Infertility |
OMIM:618115 |
Spermatogenic Failure 23 |
|
Azoospermia, Infertility |
OMIM:617707 |
Immunodeficiency 105 |
|
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Decreased circulat... |
OMIM:619924 |
Immunodeficiency 72 With Autoinflammation |
|
Hepatosplenomegaly, Increased circulating IgG level, Increased B cell count, Increased circulatin... |
OMIM:618982 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Impulsivity, Self-injurious behavior, Supernumerary nipple, Micropenis, Focal impaired awareness ... |
OMIM:618929 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:612692 |
Immunodeficiency 36 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Splenomegaly, B ly... |
OMIM:616005 |
Immunodeficiency, Common Variable, 11 |
|
Crohn's disease, Increased circulating IgE level, Decreased circulating IgG level, Inflammation o... |
OMIM:615767 |
Cernunnos-Xlf Deficiency |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Anemia, Thrombocytopenia |
ORPHA:169079 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Decreased testicular size, Abnormal spermatogenesis, Azoospermia, Ob... |
ORPHA:399805 |
Immunodeficiency 27A |
|
Histiocytosis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Rheumatoid factor positive, Increa... |
OMIM:209950 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating total IgM, Recurrent pneumonia, Recurrent ... |
OMIM:613500 |
Hyperimmunoglobulin G1(A1) Syndrome |
|
Increased circulating IgA level, Increased circulating IgG level |
OMIM:144120 |
Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 27 concentration, Increased circulating IgA level, Reduced circul... |
OMIM:619632 |
Slowed Nerve Conduction Velocity, Autosomal Dominant |
|
Onion bulb formation, Peripheral demyelination |
OMIM:608236 |
Spermatogenic Failure 6 |
|
Globozoospermia, Male infertility, Decreased acrosin in sperm head |
OMIM:102530 |
Immunoglobulin A Deficiency 1 |
|
Decreased circulating IgA level |
OMIM:137100 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis |
OMIM:247800 |
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Azoospermia, Microcephaly, Male hypogonadism |
OMIM:241000 |
Spermatogenic Failure 52 |
|
Azoospermia, Male infertility |
OMIM:619202 |
Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia, Male infertility |
OMIM:415000 |
Immunodeficiency 50 |
|
Decreased circulating antibody level |
OMIM:300988 |
Deafness-Infertility Syndrome |
|
Azoospermia, Male infertility |
ORPHA:94064 |
Ciliary Dyskinesia, Primary, 41 |
|
Infertility, Immotile sperm |
OMIM:618449 |
Griscelli Syndrome, Type 2 |
|
Hepatosplenomegaly, Reduced delayed hypersensitivity, Progressive neurologic deterioration, Hemop... |
OMIM:607624 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
Lymphopenia, T lymphocytopenia |
OMIM:618309 |
Immunodeficiency 76 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Splenomegaly |
OMIM:619164 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Testicular atrophy, Delayed menarche, Hypogonadotropic hypogonadism, Oligospermia, Primary amenor... |
ORPHA:52901 |
Transcobalamin Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat... |
ORPHA:859 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia |
OMIM:616941 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Azoospermia, Testicular microlithiasis, Micropenis, O... |
OMIM:228300 |
Immunodeficiency 13 |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
Spondylometaphyseal Dysplasia, Axial |
|
Retinal degeneration, Rod-cone dystrophy, Reduced sperm motility, Cone/cone-rod dystrophy, Optic ... |
OMIM:602271 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Torticollis, Hyposmia, Hypergonadotropic hypogonadism, Intention tremor, Head tremor, Abnormality... |
OMIM:613724 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia |
OMIM:200900 |
Schnitzler Syndrome |
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Anemia, Increased circulating IgM level, Leukocytosis, Splenomegaly |
ORPHA:37748 |
Ring Chromosome Y Syndrome |
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Urogenital sinus anomaly, Ambiguous genitalia, female, Female infertility, Ambiguous genitalia, m... |
ORPHA:261529 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
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Micropenis, Hyposmia, Hypogonadotropic hypogonadism, Absence of pubertal development, Primary ame... |
OMIM:610628 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
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Testicular atrophy, Ataxia, Decreased serum testosterone concentration, Leydig cell insensitivity... |
OMIM:308700 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
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Increased circulating antibody level, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neu... |
OMIM:615285 |
Immunodeficiency With Hyper-Igm, Type 1 |
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Decreased circulating IgA level, Decreased circulating IgG level, Increased circulating IgA level... |
OMIM:308230 |
Chudley-Mccullough Syndrome |
|
Gray matter heterotopia, Dysplastic corpus callosum, Polymicrogyria, Hypoplasia of the corpus cal... |
OMIM:604213 |
Cirrhosis, Familial |
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Increased circulating antibody level |
OMIM:118900 |
Agammaglobulinemia 8B, Autosomal Recessive |
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Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD8-pos... |
OMIM:619824 |
Adult-onset autosomal dominant leukodystrophy (ADLD) |
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Leukodystrophy, Peripheral demyelination |
DECIPHER:59 |
Spastic Paraplegia 45, Autosomal Recessive |
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Optic atrophy, Dysplastic corpus callosum, Hypoplasia of the corpus callosum |
OMIM:613162 |
Spermatogenic Failure 9 |
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Globozoospermia, Male infertility |
OMIM:613958 |
Disseminated Sclerosis With Narcolepsy |
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Narcolepsy |
OMIM:223300 |
Spermatogenic Failure 67 |
|
Globozoospermia, Male infertility |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Globozoospermia, Male infertility |
OMIM:619805 |
Spermatogenic Failure 69 |
|
Globozoospermia, Male infertility |
OMIM:619826 |
Spermatogenic Failure 66 |
|
Globozoospermia, Male infertility |
OMIM:619799 |
Immunodeficiency 33 |
|
Decreased circulating total IgM, Increased circulating IgA level |
OMIM:300636 |
Adult Idiopathic Neutropenia |
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Lymphopenia, Monocytosis, Increased circulating IgM level, Neutropenia, Monocytopenia |
ORPHA:2688 |
Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells |
OMIM:312863 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... |
ORPHA:231154 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Gonadotr... |
OMIM:614837 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lack of T cell function, Lymphopenia, B lymphocytopenia, T lymphocytopenia, Anti-thyroid peroxida... |
ORPHA:277 |
Immunodeficiency 102 |
|
Increased circulating interleukin 6 concentration, Decreased circulating IgA level, Partial absen... |
OMIM:301082 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased circulating IgA level, Abnormal circulating IgM level, Increased circulating IgG level,... |
OMIM:618048 |
Immunodeficiency, Common Variable, 1 |
|
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... |
OMIM:607594 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ... |
ORPHA:169154 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased circulating antibody level, Absent isohemagglutinin level, Decreased serum complement C... |
OMIM:615559 |
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development |
|
Delayed myelination |
OMIM:618339 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Micropenis, Hyposmia, Decreased circulating follicle ... |
OMIM:614897 |
Autosomal Recessive Spastic Paraplegia Type 70 |
|
Abnormal myelination |
ORPHA:401835 |
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
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Micropenis, Hyposmia, Hypogonadotropic hypogonadism, Primary amenorrhea, Anosmia, Choanal atresia... |
OMIM:147950 |
Immunodeficiency 70 |
|
Colitis, Decreased circulating total IgA, Decreased circulating total IgM, Recurrent sinusitis, D... |
OMIM:618969 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Increased circulating antibody level, Acute monocytic leukemia, Eosinophilia, Monocytosis, Congen... |
OMIM:202700 |
Bardet-Biedl Syndrome 19 |
|
Hyposmia, External genital hypoplasia, Hypogonadism |
OMIM:615996 |
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Small pituitary gland, Micropenis, Hyposmia, Hypogonadotropic hypogonadism, Primary amenorrhea, C... |
OMIM:612702 |
Kallmann Syndrome |
|
Ataxia, Dyspareunia, Hypoplasia of penis, Micropenis, Hyposmia, Hypogonadotropic hypogonadism, Pr... |
ORPHA:478 |
Congenital Bilateral Absence Of Vas Deferens |
|
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility |
ORPHA:48 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypoplasia of the uterus, Decreased serum testosterone concentration, Hypoplasia of the ovary, Mi... |
OMIM:614841 |
Spermatogenic Failure 29 |
|
Azoospermia |
OMIM:618091 |
Spermatogenic Failure 13 |
|
Azoospermia |
OMIM:615841 |
Spermatogenic Failure 14 |
|
Azoospermia |
OMIM:615842 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Abnormal cerebral white matter morphology, Dysplastic corpus callosum, Mild malformation of corti... |
ORPHA:500166 |
Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Increased circulating IgE level, Eczema, Thyroiditis |
OMIM:618985 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Increased circulating antibody level, Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thromb... |
OMIM:614470 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Hypereosinophilia, Abnormal n... |
OMIM:212050 |
Autosomal Recessive Spastic Paraplegia Type 69 |
|
Abnormal myelination, Agenesis of corpus callosum, Cerebral cortical atrophy |
ORPHA:401830 |
Autosomal Recessive Spastic Paraplegia Type 67 |
|
Abnormal myelination, Agenesis of corpus callosum, Cerebral cortical atrophy |
ORPHA:401820 |
Kallmann Syndrome With Spastic Paraplegia |
|
Testicular atrophy, Ataxia, Leydig cell insensitivity to gonadotropin, Micropenis, Hypogonadotrop... |
OMIM:308750 |
Immunodeficiency 104 |
|
T lymphocytopenia, Splenomegaly |
OMIM:608971 |
Insulin Autoimmune Syndrome |
|
Increased circulating antibody level, Systemic lupus erythematosus, Autoimmunity, Autoimmune anti... |
ORPHA:411593 |
Young-Onset Parkinson Disease |
|
Gait imbalance, Apathy, Female sexual dysfunction, Impulsivity, Cognitive impairment, Depression,... |
ORPHA:2828 |
Craniopharyngioma |
|
Enlarged pituitary gland, Type II diabetes mellitus, Abnormal hypothalamus morphology, Central ad... |
ORPHA:54595 |
Immunodeficiency 67 |
|
Increased circulating IgE level |
OMIM:607676 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Micropenis, Primary amenorrhea, Decreased testicular size, Hypogonadism, Cryptorchidism, Anosmia |
OMIM:616030 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Dysplastic corpus callosum, Hypergonadotropic hypogonadism, Periventricular nodular heterotopia, ... |
OMIM:619737 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased specific anti-polysaccharide antibody level, Splenomegaly, Autoimmune thrombocytopenia,... |
OMIM:300853 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypoplasia of the ovary, Decreased serum testosterone concentration, Micropenis, Primary amenorrh... |
OMIM:618841 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Increased circulating IgE level |
ORPHA:1858 |
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Hyposmia, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Seizure, Cryptorchidism,... |
OMIM:244200 |
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent skin infections, Decr... |
OMIM:619752 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM |
OMIM:300861 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Decreased specific anti-polysaccharide antibody level, Sinusitis, Otitis media, Decreased specifi... |
ORPHA:70593 |
Immunodeficiency 66 |
|
Defective T cell proliferation |
OMIM:618847 |
Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Partial absence of specific ant... |
OMIM:240500 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Ataxia, Inability to walk, Mental deterioration, Memory impairment, Gait disturbance, Lateral ven... |
ORPHA:2822 |
Familial Congenital Mirror Movements |
|
Morphological abnormality of the corticospinal tract, Hypogonadotropic hypogonadism, Agenesis of ... |
ORPHA:238722 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgA level, Abnor... |
ORPHA:331206 |
Boutonneuse Fever |
|
Increased circulating IgM level, Leukopenia, Thrombocytopenia, Increased circulating IgG level |
ORPHA:83313 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Splenomegaly, Increased circulating IgG level, Autoimmunity, Autoimmune hemolytic anemia, Decreas... |
OMIM:618495 |
Immune Deficiency Disease |
|
Decreased circulating total IgM, Fulminant hepatitis, Cholangitis |
OMIM:242850 |
Ciliary Dyskinesia, Primary, 46 |
|
Reduced sperm motility |
OMIM:619436 |
Kufor-Rakeb Syndrome |
|
Torticollis, Ataxia, Akinesia, Hyposmia, Myoclonus, Gait disturbance, Tremor, Aggressive behavior... |
OMIM:606693 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Increased circulating IgE level |
ORPHA:89843 |
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive |
|
Keratitis, Eczema, Recurrent otitis media, Bronchiectasis, Increased circulating IgE level |
OMIM:618523 |
47,Xyy Syndrome |
|
Increased serum testosterone level, Impulsivity, Cryptorchidism, Micropenis, Hypospadias, Oligosp... |
ORPHA:8 |
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Hyposmia, Micropenis, Hypogonadotropic hypogonadism, Decreased testicular size, Anosmia |
OMIM:614838 |
Meningioma |
|
Ataxia, Impotence, Decreased circulating cortisol level, Neoplasm of the posterior pituitary, Abn... |
ORPHA:2495 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent bacterial skin infections, Atopic dermatitis, Chronic otitis media, Recurrent sinusitis... |
ORPHA:217390 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Partial agenesis of the corpus callosum, Abnormal myelination, Cerebral atrophy, Agenesis of corp... |
ORPHA:85179 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Decreased circulating IgA level, Reduced natural killer cell count, Increased circulating IgM lev... |
OMIM:242860 |
Spermatogenic Failure 75 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619949 |
Septo-Optic Dysplasia Spectrum |
|
Polydipsia, Hypoplasia of penis, Abnormality of the hypothalamus-pituitary axis, Maternal diabete... |
ORPHA:3157 |
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Decreased circulating total IgM |
OMIM:615139 |
Maternal Uniparental Disomy Of Chromosome X |
|
Microcephaly, Ambiguous genitalia, Azoospermia, Gonadal tissue inappropriate for external genital... |
ORPHA:261519 |
Mu-Heavy Chain Disease |
|
Increased circulating antibody level, Anemia, Abnormal B cell count, Splenomegaly |
ORPHA:100024 |
Immunodeficiency 68 |
|
Abscess, Abnormal natural killer cell count, B lymphocytopenia, T lymphocytopenia |
OMIM:612260 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Eosinophilic infiltration of the esophagus, Decreased circulating total IgM, Eczema, Atopic derma... |
OMIM:243700 |
Lymphoproliferative Syndrome 3 |
|
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ... |
OMIM:618261 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM |
OMIM:611926 |
Spermatogenic Failure 15 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:616950 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Eczematoid dermatitis, Skin rash, Chronic mucocutaneous candidiasis, Recurrent pneumonia, Cutaneo... |
OMIM:147060 |
Panniculitis-Induced Localized Lipodystrophy |
|
Abnormal immunoglobulin level |
ORPHA:90159 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... |
ORPHA:540 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased circulating IgG level, Decreased circulating total IgM, B lymphocytopenia, Decreased pr... |
OMIM:619705 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Spermatocele, Obstructive azoospermia, Male infertility |
OMIM:301060 |
Chilblain Lupus |
|
Increased circulating antibody level, Antiphospholipid antibody positivity, Systemic lupus erythe... |
ORPHA:90280 |
Young Syndrome |
|
Azoospermia |
OMIM:279000 |
Foxg1 Syndrome |
|
Status epilepticus, Inability to walk, Poor eye contact, Delayed myelination, Cognitive impairmen... |
ORPHA:561854 |
X-Linked Lymphoproliferative Disease |
|
Hemophagocytosis, Aplastic anemia, B lymphocytopenia, Increased proportion of CD25+ mast cells, P... |
ORPHA:2442 |
Ciliary Dyskinesia, Primary, 34 |
|
Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti... |
OMIM:617091 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Increased circulating IgA level, Neutrophilia, Leukocytosis, Increased circulating IgM level, Inc... |
OMIM:617099 |
Autoinflammation With Infantile Enterocolitis |
|
Reduced natural killer cell activity |
OMIM:616050 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Abnormality of the sense of smell, Hypogonadotropic hypogonadism, Choanal atresia, Aplasia/Hypopl... |
ORPHA:1135 |
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Cryptorchidism, Primary amenorrhea, Anosmia, Decreased testicular size |
OMIM:614858 |
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism |
|
Ambiguous genitalia, Dysplastic corpus callosum |
OMIM:601016 |
Immunodeficiency 60 And Autoimmunity |
|
Decreased circulating IgA level, Decreased circulating IgG level, Perinuclear antineutrophil anti... |
OMIM:618394 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Motor axonal neuropathy, Microcephaly, Dysplastic corpus callosum |
OMIM:618276 |
Immunodeficiency 21 |
|
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... |
OMIM:614172 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Osteomyelitis, Decreased circulating IgG level, Panuveitis, Optic neuritis, Decreased circulating... |
OMIM:301081 |
Immunodeficiency 37 |
|
Colitis, Decreased circulating antibody level, Infectious encephalitis |
OMIM:616098 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat... |
OMIM:619510 |
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia |
OMIM:612370 |
Simple Cryoglobulinemia |
|
Complement deficiency, Monoclonal elevation of circulating IgA, Rheumatoid factor positive, Progr... |
ORPHA:91139 |
Angiostrongyliasis |
|
Increased circulating IgA level, Increased circulating IgG level, Increased circulating specific ... |
ORPHA:74 |
Epilepsy-Telangiectasia Syndrome |
|
Decreased circulating IgA level, Decreased circulating antibody level |
ORPHA:1951 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgA level, Decre... |
ORPHA:276 |
Rasmussen Subacute Encephalitis |
|
Inability to walk, Focal impaired awareness seizure, Anti-dsDNA antibody positivity, Emotional la... |
ORPHA:1929 |
Leber Congenital Amaurosis 10 |
|
Seizure, Hyposmia |
OMIM:611755 |
Spermatogenic Failure, X-Linked, 2 |
|
Azoospermia, Testicular atrophy, Male infertility |
OMIM:309120 |
Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
Neutropenia, Severe Congenital, X-Linked |
|
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia |
OMIM:300299 |
Immunodeficiency 96 |
|
Defective T cell proliferation, Decreased circulating IgA level, Decreased circulating IgG level,... |
OMIM:619774 |
Gorlin Syndrome |
|
Abnormality of the sense of smell, Hypogonadotropic hypogonadism, Cryptorchidism, Wide nasal bridge |
ORPHA:377 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia, Increased circulating IgA level |
OMIM:314000 |
Autosomal Recessive Spastic Paraplegia Type 57 |
|
Abnormal myelination |
ORPHA:431329 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
B lymphocytopenia, T lymphocytopenia |
OMIM:601457 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia |
ORPHA:2643 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Optic nerve hypoplasia, Polymicrogyria, Colpocephaly, Agenesis of cor... |
ORPHA:250972 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Erythroderma, Blepharitis, Increased circulating IgE level, Pustule |
OMIM:614328 |
Immunodeficiency 23 |
|
Lymphopenia, Eosinophilia, Abscess, Rheumatoid factor positive, Increased circulating IgG level, ... |
OMIM:615816 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Absent outer dynein arms, Immotile sperm |
OMIM:614874 |
Spinocerebellar Ataxia Type 32 |
|
Azoospermia, Testicular atrophy, Male infertility |
ORPHA:276183 |
Sneddon Syndrome |
|
Mental deterioration, Decreased circulating total IgM, Lymphopenia, Antiphospholipid antibody pos... |
OMIM:182410 |
Hypotrichosis Simplex Of The Scalp |
|
Allergic rhinitis, Increased circulating IgE level, Atopic dermatitis |
ORPHA:90368 |
Igg4-Related Aortitis |
|
Increased circulating antibody level, Complement deficiency, Antinuclear antibody positivity, Inc... |
ORPHA:449400 |
Duplication Of The Pituitary Gland |
|
Abnormality of the pituitary gland, Agenesis of corpus callosum, Abnormal hypothalamus morphology... |
ORPHA:314621 |
Zika Virus Disease |
|
Thrombocytopenia, Increased circulating IgM level |
ORPHA:448237 |
Ciliary Dyskinesia, Primary, 12 |
|
Abnormal central microtubular pair morphology of respiratory motile cilia, Immotile sperm, Reduce... |
OMIM:612650 |
Dermoid Cysts, Familial Frontonasal |
|
Nocturnal seizures, Nasal congestion, Seizure, Dysphagia, Deviated nasal septum, Anosmia, Wide na... |
OMIM:600679 |
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia |
|
Delayed puberty, Hyposmia |
OMIM:615271 |
Hydrolethalus |
|
Abnormality of the sense of smell, Abnormal fallopian tube morphology, Cryptorchidism, Agenesis o... |
ORPHA:2189 |
Whim Syndrome 1 |
|
Decreased circulating antibody level, Decreased circulating IgG level, Neutropenia |
OMIM:193670 |
Dopa-Responsive Dystonia |
|
Arm dystonia, Agoraphobia, Leg dystonia, Inability to walk, Delayed myelination, Abnormal social ... |
ORPHA:255 |
Erythema Elevatum Diutinum |
|
Increased circulating antibody level |
ORPHA:90000 |
Ciliary Dyskinesia, Primary, 14 |
|
Immotile sperm, Reduced sperm motility, Absent inner dynein arms, Abnormal axonemal organization ... |
OMIM:613807 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased circulating IgA level, Decreased circulating antibody level |
OMIM:617744 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Depressed nasal bridge, Short nose, Hypogonadism, Short nasal septum, Anosmia |
OMIM:302950 |
Ciliary Dyskinesia, Primary, 26 |
|
Infertility, Absent outer dynein arms, Reduced sperm motility |
OMIM:615500 |
Immunodeficiency 57 With Autoinflammation |
|
Reduced natural killer cell count, Perianal abscess, B lymphocytopenia, T lymphocytopenia |
OMIM:618108 |
Mucolipidosis Iv |
|
Cerebral dysmyelination, Dysplastic corpus callosum, Retinal degeneration, Microcephaly, Optic at... |
OMIM:252650 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... |
OMIM:619802 |
Peeling Skin Syndrome 1 |
|
Increased circulating IgE level |
OMIM:270300 |
Neuronal Intestinal Pseudoobstruction |
|
Decreased circulating antibody level |
ORPHA:99811 |
Ciliary Dyskinesia, Primary, 11 |
|
Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced sperm motility |
OMIM:612649 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Abnormal vagina morphology, Abnormal peripheral myelination, Hypoplasia of the uterus, Infertilit... |
ORPHA:168563 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
Myoclonus, Memory impairment, T2 hypointense thalamus, Gait disturbance, Disinhibition, CNS demye... |
OMIM:618193 |
Functioning Gonadotropic Adenoma |
|
Impotence, Ovarian cyst, Central diabetes insipidus, Enlarged polycystic ovaries, Pituitary gonad... |
ORPHA:91348 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Crohn's disease, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circ... |
OMIM:616100 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia |
OMIM:251190 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyperinsulinemia, Hyposmia, Increased serum leptin, Polyphagia, Anosmia |
OMIM:617885 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Infertility, Primary amenorrhea, Decreased testicular size, Hypogonadism, Azoospermia |
OMIM:229070 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ... |
ORPHA:169160 |
Immunodeficiency, Common Variable, 13 |
|
Decreased circulating antibody level |
OMIM:616873 |
Adrenal Hypoplasia, Congenital |
|
Precocious puberty, Hypogonadotropic hypogonadism, Oligospermia, Azoospermia, Cryptorchidism |
OMIM:300200 |
Bardet-Biedl Syndrome 17 |
|
Polydipsia, Hyposmia, Micropenis, Cognitive impairment, Hypogonadism, Anosmia |
OMIM:615994 |
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia |
|
Absence of pubertal development, Anosmia, Hypogonadism |
OMIM:615267 |
Brachytelephalangy With Characteristic Facies And Kallmann Syndrome |
|
Hypogonadotropic hypogonadism, Depressed nasal bridge, Anosmia |
OMIM:113480 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
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Dysplastic corpus callosum, Primary microcephaly |
OMIM:618010 |
Cach Syndrome |
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Apathy, Dysmyelinating leukodystrophy, Limb ataxia, Cognitive impairment, Dysmetria, Primary amen... |
ORPHA:135 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
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Cryptorchidism, Oligospermia |
OMIM:314300 |
Autoimmune Lymphoproliferative Syndrome |
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Abnormal proportion of CD8-positive T cells, Rheumatoid factor positive, Hypersplenism, Bone marr... |
ORPHA:3261 |
New-Onset Refractory Status Epilepticus |
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Status epilepticus, Focal impaired awareness seizure, Focal aware motor seizure, Cognitive impair... |
ORPHA:363558 |
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
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Anosmia, Delayed puberty, Hypogonadism |
OMIM:615270 |
Autoinflammation With Arthritis And Dyskeratosis |
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Increased circulating IgA level, Splenomegaly, Increased circulating IgG level, Hypereosinophilia... |
OMIM:617388 |
Congenital Hypothyroidism |
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Abnormality of the thyroid gland, Depressed nasal ridge, Depression, Thyroid dysgenesis, Anxiety,... |
ORPHA:442 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
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Gray matter heterotopia, Micropenis, Retinal dysplasia, Cortical dysplasia, Anencephaly, Optic ne... |
OMIM:615287 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
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Hypoplasia of the uterus, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulati... |
OMIM:614842 |
Lead Poisoning |
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Infertility, Decreased male libido, Reduced sperm motility, Abnormality of the autonomic nervous ... |
ORPHA:330015 |
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
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Hypogonadotropic hypogonadism, Primary amenorrhea, Anosmia |
OMIM:614839 |
Subacute Inflammatory Demyelinating Polyneuropathy |
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Increased circulating IgG level, Leukocytosis |
ORPHA:206594 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
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Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Neutropenia, ... |
ORPHA:572 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
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Liver kidney microsome type 1 antibody positivity, Smooth muscle antibody positivity, Increased c... |
ORPHA:562639 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
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Decreased circulating IgA level, Enterocolitis, Interstitial pneumonitis, Decreased circulating t... |
OMIM:614878 |
Pgm3-Cdg |
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Cutaneous abscess, Abnormal proportion of CD8-positive T cells, Increased circulating IgA level, ... |
ORPHA:443811 |
Amoebiasis Due To Free-Living Amoebae |
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Ataxia, Abnormal hypothalamus morphology, Hyposmia, Abnormality of the adrenal glands, Seizure, I... |
ORPHA:68 |
Subcorneal Pustular Dermatosis |
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Increased circulating antibody level, Systemic lupus erythematosus, Hyperthyroidism, Rheumatoid a... |
ORPHA:48377 |
Johnson Neuroectodermal Syndrome |
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Micropenis, Hypogonadotropic hypogonadism, Decreased testicular size, Choanal stenosis, Anosmia |
OMIM:147770 |
Ciliary Dyskinesia, Primary, 15 |
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Infertility, Abnormal axonemal organization of respiratory motile cilia, Immotile sperm |
OMIM:613808 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
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Neutropenia, Lymphopenia, Abnormally low T cell receptor excision circle level, Hepatosplenomegal... |
OMIM:618986 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
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Decreased circulating IgA level, Chronic oral candidiasis, Decreased circulating IgG level, Skin ... |
ORPHA:275 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
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Gray matter heterotopia, Dysgyria, Type II lissencephaly, Abnormal cerebral white matter morpholo... |
ORPHA:352682 |
Mucopolysaccharidosis-Plus Syndrome |
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Splenomegaly, Leukopenia, Increased circulating IgM level, Neutropenia, Bone marrow hypocellulari... |
OMIM:617303 |
Sting-Associated Vasculopathy, Infantile-Onset |
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Antiphospholipid antibody positivity, Increased circulating IgA level, Lymphopenia, Leukopenia, R... |
OMIM:615934 |
Riddle Syndrome |
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Decreased circulating IgG level |
OMIM:611943 |
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
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Ataxia, Inability to walk, Focal impaired awareness seizure, Generalized myoclonic seizure, Cogni... |
ORPHA:1947 |
Immunodeficiency, Common Variable, 10 |
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Decreased circulating IgA level, Decreased circulating IgG level, Decreased response to growth ho... |
OMIM:615577 |
Tick-Borne Encephalitis |
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Leukocytosis, Cognitive impairment, Leukopenia, Increased circulating IgG level, Abnormality of s... |
ORPHA:297 |
Immunodeficiency 92 |
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Decreased circulating IgA level, Abnormal B cell proliferation, Decreased circulating IgG level, ... |
OMIM:619652 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
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Hypoplasia of penis, Bifid scrotum, Hypogonadotropic hypogonadism, Abnormality of the nares, Shor... |
ORPHA:1295 |
Tempi Syndrome |
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Increased hematocrit, Polycythemia, Increased circulating IgG level |
ORPHA:284227 |
Androgen Insensitivity, Partial |
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Infertility, Micropenis, Bifid scrotum, Male pseudohermaphroditism, Absent vas deferens, Hypogona... |
OMIM:312300 |
Hereditary Late-Onset Parkinson Disease |
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Apathy, Akinesia, Impulsivity, Resting tremor, Hyposmia, Mental deterioration, Depression, Low fr... |
ORPHA:411602 |
Lassa Fever |
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Increased circulating IgM level |
ORPHA:99824 |
Ciliary Dyskinesia With Defective Radial Spokes |
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Immotile sperm, Absent respiratory ciliary axoneme radial spokes |
OMIM:242670 |
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
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Increased circulating antibody level, Crohn's disease, Pustule, Myositis, Arthritis, Increased in... |
ORPHA:69126 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
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Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Decreased cir... |
ORPHA:35078 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
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Torticollis, Cerebral dysmyelination, Dysmyelinating leukodystrophy, Ataxia, Demyelinating periph... |
OMIM:609136 |
O'Sullivan-Mcleod Syndrome |
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Increased circulating antibody level, Eosinophilia |
ORPHA:99965 |
Calcific Aortic Disease With Immunologic Abnormalities, Familial |
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Increased circulating antibody level |
OMIM:114065 |
Interstitial Lung Disease 2 |
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Increased circulating antibody level |
OMIM:178500 |
Netherton Syndrome |
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Erythroderma, Allergic rhinitis, Increased circulating IgE level, Decreased circulating IgG level |
OMIM:256500 |
8P11.2 Deletion Syndrome |
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Hypoplasia of penis, Hypogonadotropic hypogonadism, Abnormality of the hypothalamus-pituitary axi... |
ORPHA:251066 |
Lymphangiectasia, Intestinal |
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Decreased circulating IgG level, Lymphopenia |
OMIM:152800 |
Ciliary Dyskinesia, Primary, 22 |
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Infertility, Absent inner and outer dynein arms, Reduced sperm motility |
OMIM:615444 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
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Decreased lymphocyte proliferation in response to anti-CD3, Lymphopenia, Panhypogammaglobulinemia... |
OMIM:600802 |
Inflammatory Pseudotumor Of The Liver |
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Autoimmune antibody positivity, Increased hepatitis B virus antibody level |
ORPHA:90003 |
Autoimmune Hepatitis |
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Increased circulating antibody level, Liver kidney microsome type 1 antibody positivity, Smooth m... |
ORPHA:2137 |
Spermatogenic Failure 28 |
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Azoospermia, Decreased testicular size |
OMIM:618086 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Lymphopenia, Aplasia of the thymus, Abnormally low T cell receptor excision circle level, Hepatos... |
OMIM:242700 |
Diethylstilbestrol Syndrome |
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Hypoplasia of the uterus, Cryptorchidism, Micropenis, Hypospadias, Decreased fertility in females... |
ORPHA:1916 |
Myotonic Dystrophy 2 |
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Oligospermia, Periventricular white matter hyperintensities, Hypogonadism |
OMIM:602668 |
Juvenile Neuronal Ceroid Lipofuscinosis |
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Focal T2 hyperintense thalamic lesion, Loss of ambulation, Progressive language deterioration, Co... |
ORPHA:79264 |
Caffey Disease |
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Increased circulating antibody level |
ORPHA:1310 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
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Hypoplasia of the thymus, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transformatio... |
OMIM:619313 |
Neurodevelopmental Disorder With Language Delay And Seizures |
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Hypothalamic hamartoma, Hypothyroidism, Seizure, Cryptorchidism, CNS hypomyelination |
OMIM:619908 |
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
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Limb ataxia, Mental deterioration, Thalamic calcification, Limb dystonia, Seizure, Generalized dy... |
OMIM:618824 |
Deafness-Hypogonadism Syndrome |
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Hypergonadotropic hypogonadism, Congenital stationary night blindness, Abnormal spermatogenesis |
ORPHA:90646 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 2 |
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Abnormal myelination |
OMIM:618324 |
C3 Glomerulopathy |
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Decreased serum complement C3, Decreased serum complement C4, C3 nephritic factor positivity, Aut... |
ORPHA:329918 |
Kapur-Toriello Syndrome |
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Dysplastic corpus callosum, Hypoplasia of penis, Retinal coloboma, Polymicrogyria, Pachygyria, Hy... |
ORPHA:2328 |
Transcobalamin Ii Deficiency |
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Decreased circulating IgA level, Neutropenia, Decreased circulating IgG level, Decreased circulat... |
OMIM:275350 |
Pituitary Dermoid And Epidermoid Cysts |
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Amenorrhea, Oligomenorrhea, Oligospermia, Hypogonadism |
ORPHA:91351 |
Japanese Encephalitis |
|
Increased circulating antibody level, Neutrophilia, Paucity of anterior horn motor neurons, Cogni... |
ORPHA:79139 |
Okur-Chung Neurodevelopmental Syndrome |
|
Decreased circulating IgA level, Decreased circulating antibody level, Decreased circulating IgG ... |
OMIM:617062 |
Leishmaniasis |
|
Increased circulating antibody level, Splenomegaly, Leukopenia, Abnormal macrophage morphology, P... |
ORPHA:507 |
Johnson Neuroectodermal Syndrome |
|
Bulbous nose, Choanal atresia, Anosmia, Hypogonadism |
ORPHA:2316 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
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Dysplastic corpus callosum, Optic nerve hypoplasia, Microcephaly, Polymicrogyria, Lissencephaly, ... |
OMIM:614833 |
Immunodeficiency 22 |
|
Decreased proportion of CD4-positive helper T cells |
OMIM:615758 |
Premature Ovarian Failure 10 |
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Hypoplasia of the ovary, Primary amenorrhea, Decreased testicular size, Azoospermia, Premature ov... |
OMIM:612885 |
Gapo Syndrome |
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Amenorrhea, Dysmenorrhea, Oligospermia, Optic atrophy, Hypogonadism |
ORPHA:2067 |
Vulvovaginal Gingival Syndrome |
|
Abnormality of tumor necrosis factor secretion, Abnormality of female external genitalia |
ORPHA:83453 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Decreased specific anti-polysaccharide antibody level, Decreased lymphocyte proliferation in resp... |
OMIM:606367 |
Paragangliomas 6 |
|
Elevated circulating catecholamine level, Paraganglioma |
OMIM:618464 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Micropenis, Hypogonadotropic hypogonadism, Hypospadias, Anxiety, Delayed puberty, Cryptorchidism,... |
OMIM:619718 |
Primary Biliary Cholangitis |
|
Antinuclear antibody positivity, Autoimmunity, Increased circulating IgA level, Increased circula... |
ORPHA:186 |
Aregenerative Anemia |
|
Abnormality of interleukin secretion, Abnormal proportion of CD8-positive T cells, Neutropenia, C... |
ORPHA:101096 |
Holoprosencephaly |
|
Aplasia/Hypoplasia involving the nose, Hypoplasia of penis, Depressed nasal ridge, Cognitive impa... |
ORPHA:2162 |
Netherton Syndrome |
|
Skin rash, Eczema, Decreased circulating antibody level, Erythroderma, Increased circulating IgE ... |
ORPHA:634 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Depressed nasal bridge, Abnormal nasal morphology, Anxiety, Abnormality of thalamus morphology, F... |
ORPHA:404440 |
Neuroferritinopathy |
|
Leg dystonia, Blepharospasm, Resting tremor, Cognitive impairment, Focal dystonia, T2 hypointense... |
ORPHA:157846 |
8Q21.11 Microdeletion Syndrome |
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Hypoplasia of penis, Abnormality of the sense of smell, Wide nose, Cryptorchidism, Underdeveloped... |
ORPHA:284160 |
Panhypophysitis |
|
Polydipsia, Impotence, Decreased circulating cortisol level, Increased circulating prolactin conc... |
ORPHA:95513 |
Lymphoproliferative Syndrome 1 |
|
Decreased circulating IgG level, Splenomegaly, Leukopenia, Autoimmune thrombocytopenia, Decreased... |
OMIM:613011 |
Thumb Agenesis, Short Stature, And Immunodeficiency |
|
Anosmia, Delayed puberty |
OMIM:274190 |
Central Precocious Puberty |
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Premature thelarche, Increased circulating gonadotropin level, Isosexual precocious puberty, Hypo... |
ORPHA:759 |
Stiff Person Spectrum Disorder |
|
Agoraphobia, Exaggerated startle response, Anxiety, Autoimmune antibody positivity, Falls, Hypoth... |
ORPHA:3198 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Defective T cell proliferation, Leukocytosis, Hypochromic anemia, Increased circulating IgG level... |
OMIM:618213 |
Thrombocytopenia 1 |
|
Increased circulating IgE level, Increased circulating IgA level |
OMIM:313900 |
Wiskott-Aldrich Syndrome |
|
Decreased specific anti-polysaccharide antibody level, Increased circulating IgA level, Abnormal ... |
OMIM:301000 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Decreased circulating IgA level, Inflammatory abnormality of the skin, Sinusitis, Skin rash, Abse... |
OMIM:102700 |
X-Linked Intellectual Disability, Wilson Type |
|
Hydrocele testis, Lateral ventricle dilatation, Microcephaly, Delayed myelination |
ORPHA:85290 |
Urban-Rogers-Meyer Syndrome |
|
Increased circulating IgE level |
ORPHA:3409 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Decreased specific anti-polysaccharide antibody level, Sinusitis, Increased circulating IgA level... |
OMIM:600903 |
Tay-Sachs Disease |
|
Typical absence seizure, Precocious puberty, Inability to walk, Laryngeal dystonia, Exaggerated s... |
ORPHA:845 |
Ciliary Dyskinesia, Primary, 5 |
|
Reduced sperm motility |
OMIM:608647 |
Adult-Onset Nemaline Myopathy |
|
Paraproteinemia |
ORPHA:171442 |
Solitary Median Maxillary Central Incisor |
|
Abnormal nasopharynx morphology, Decreased response to growth hormone stimulation test, Pyriform ... |
OMIM:147250 |
Apnea, Obstructive Sleep |
|
Focal impaired awareness seizure, Anosmia |
OMIM:107650 |
Spermatogenic Failure, X-Linked, 4 |
|
Azoospermia, Male infertility |
OMIM:301077 |
Bone Marrow Failure Syndrome 5 |
|
Testicular atrophy, Decreased circulating antibody level, Seizure, Hypogonadism |
OMIM:618165 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eczema, Glomerulonephritis, Arthritis, Hepatitis, Erythroderma, Increased circulating IgE level |
OMIM:304790 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Torticollis, Inability to walk, Spastic ataxia, Partial agenesis of the corpus callosum, Lateral ... |
ORPHA:300570 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Decreased circulating IgA level |
OMIM:215250 |
Rift Valley Fever |
|
Increased circulating IgM level, Anemia, Thrombocytopenia, Increased circulating IgG level |
ORPHA:319251 |
Dworschak-Punetha Neurodevelopmental Syndrome |
|
Dysplastic corpus callosum, Microcephaly, Peripheral axonal neuropathy, Optic disc hypoplasia, Co... |
OMIM:619955 |
Peroxisome Biogenesis Disorder 9B |
|
Ataxia, Anosmia |
OMIM:614879 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased circula... |
OMIM:614700 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Azoospermia, Male infertility, Absent vas deferens |
OMIM:277180 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Micropenis, Hypogonadotropic hypogonadism, Delayed puberty, Decreased testicular size, Partial an... |
ORPHA:2326 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Decreased circulating IgG level, Hepatosplenomegaly, Leukopenia, Increased circulating IgM level,... |
ORPHA:505248 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Oligospermia, Male infertility, Hypogonadism, Abnormal testis morphology, Primary testicular failure |
ORPHA:85450 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Increased circulating IgA level, Xerostomia, Antinuclear antibody positivity, Increased circulati... |
ORPHA:79078 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hydrocele testis, Dysplastic corpus callosum, Peripheral axonal neuropathy, Micropenis |
OMIM:618810 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Dysplastic corpus callosum, Micropenis, Hypospadias, Endometriosis, Premature ovarian insufficiency |
ORPHA:363444 |
Cystic Fibrosis |
|
Decreased circulating antibody level |
ORPHA:586 |
Primary Ciliary Dyskinesia |
|
Rod-cone dystrophy, Female infertility, Abnormal sperm motility, Male infertility |
ORPHA:244 |
Agammaglobulinemia, X-Linked |
|
Bronchiectasis, Decreased circulating IgA level, Prostatitis, Decreased circulating IgG level, Py... |
OMIM:300755 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Decreased circulating IgG level, Hemophagocytosis, Splenomegaly, Antineutrophil antibody positivi... |
OMIM:301078 |
Generalized Glucocorticoid Resistance Syndrome |
|
Infertility, Precocious puberty, Oligospermia, Oligomenorrhea, Ambiguous genitalia, Female pseudo... |
ORPHA:786 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Leukoencephalopathy, Dysplastic corpus callosum, Hypoplasia of the corpus callosum |
OMIM:614924 |
|