Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Abnormality of T cell physiology, Recurrent protozoan infections,... |
OMIM:308220 |
Autoimmune Disease |
|
Autoimmune antibody positivity, Autoimmunity |
OMIM:109100 |
Immunodeficiency, Common Variable, 5 |
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Antinuclear antibody positivity, Recurrent respiratory infections, Chronic decreased circulating ... |
OMIM:613495 |
Monocyte Chemotactic Disorder |
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Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:252250 |
Complement Component 4, Partial Deficiency Of |
|
Systemic lupus erythematosus |
OMIM:120790 |
Pemphigus Vulgaris, Familial |
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Autoimmune antibody positivity, Autoimmunity |
OMIM:169610 |
Immunodeficiency 18 |
|
Recurrent otitis media, Recurrent respiratory infections, Defective T cell proliferation, Recurre... |
OMIM:615615 |
Candidiasis, Familial, 1 |
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Cutaneous anergy, Chronic mucocutaneous candidiasis, Recurrent viral infections |
OMIM:114580 |
Oocyte/Zygote/Embryo Maturation Arrest 9 |
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Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
Eosinophilia, Familial |
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Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
Immunoglobulin A Deficiency 1 |
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Recurrent respiratory infections, Autoimmunity, Recurrent infections, Recurrent infection of the ... |
OMIM:137100 |
Immunodeficiency 88 |
|
Eosinophilia |
OMIM:619630 |
Oocyte/Zygote/Embryo Maturation Arrest 4 |
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Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
Oocyte/Zygote/Embryo Maturation Arrest 14 |
|
Oocyte maturation arrest, Female infertility |
OMIM:620276 |
Oocyte/Zygote/Embryo Maturation Arrest 5 |
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Lack of oocyte pronucleus formation, Female infertility |
OMIM:617996 |
Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Eosinophilia, Myeloproliferative disorder |
OMIM:131440 |
Immunoglobulin A Deficiency 2 |
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Recurrent sinopulmonary infections, Recurrent infection of the gastrointestinal tract, Autoimmuni... |
OMIM:609529 |
Spermatogenic Failure 73 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619937 |
C1Q Deficiency 1 |
|
Autoimmunity, Systemic lupus erythematosus, Recurrent infections |
OMIM:613652 |
Neutropenia, Lethal Congenital, With Eosinophilia |
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Eosinophilia, Neutropenia |
OMIM:257100 |
Spermatogenic Failure 57 |
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Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Spermatogenic Failure 50 |
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Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
Nevoid Hypermelanosis, Linear And Whorled |
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Eosinophilia |
OMIM:614323 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
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Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
Oocyte/Zygote/Embryo Maturation Arrest 8 |
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Female infertility |
OMIM:619009 |
Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
Tn Polyagglutination Syndrome |
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Autoimmunity |
OMIM:300622 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
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Recurrent bacterial infections, Decreased circulating IgG level, Recurrent candida infections |
OMIM:242870 |
Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
Oocyte/Zygote/Embryo Maturation Arrest 12 |
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Female infertility |
OMIM:619697 |
Premature Ovarian Failure 19 |
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Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility |
OMIM:619245 |
Spermatogenic Failure 32 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:619831 |
Acute Myelomonocytic Leukemia |
|
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia |
ORPHA:517 |
Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
Ichthyosis-Prematurity Syndrome |
|
Eosinophilia |
ORPHA:88621 |
Spermatogenic Failure 62 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
Hashimoto Thyroiditis |
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Autoimmune antibody positivity, Hashimoto thyroiditis |
OMIM:140300 |
Oocyte/Zygote/Embryo Maturation Arrest 10 |
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Female infertility |
OMIM:619176 |
Immunodeficiency With Hyper-Igm, Type 2 |
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Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Impaired Ig ... |
OMIM:605258 |
Immunodeficiency 35 |
|
Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,... |
OMIM:611521 |
Immunodeficiency, Common Variable, 4 |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:613494 |
Bleeding Disorder, Platelet-Type, 24 |
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Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... |
OMIM:619271 |
Immunodeficiency 24 |
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Decreased circulating IgG level, Recurrent viral infections, Defective T cell proliferation, Redu... |
OMIM:615897 |
Hydatidiform Mole, Recurrent, 3 |
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Female infertility |
OMIM:618431 |
Hydatidiform Mole, Recurrent, 4 |
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Female infertility |
OMIM:618432 |
Bleeding Disorder, Platelet-Type, 16 |
|
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat... |
OMIM:187800 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Dysplasia Of Head Of Femur, Meyer Type |
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Waddling gait, Leukocytosis, Antalgic gait |
ORPHA:168621 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
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Increased mean platelet volume, Enamel hypomineralization, Iron deficiency anemia, Neutropenia, T... |
ORPHA:494444 |
Masp2 Deficiency |
|
Recurrent pneumonia, Systemic lupus erythematosus |
OMIM:613791 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Premature Ovarian Failure 2B |
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Premature ovarian insufficiency, Primary amenorrhea, Female infertility |
OMIM:300604 |
Juvenile Temporal Arteritis |
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Leukocytosis, Eosinophilia |
ORPHA:26137 |
Systemic Lupus Erythematosus 16 |
|
Antinuclear antibody positivity, Perinuclear antineutrophil antibody positivity, Anti-dsDNA antib... |
OMIM:614420 |
Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
Oocyte/Zygote/Embryo Maturation Arrest 18 |
|
Female infertility |
OMIM:620332 |
Oocyte/Zygote/Embryo Maturation Arrest 19 |
|
Female infertility |
OMIM:620333 |
Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
Female Infertility Due To Oocyte Meiotic Arrest |
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Abnormal spermatogenesis, Oocyte arrest at metaphase I, Abnormal meiosis, Female infertility |
ORPHA:488191 |
Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Hypereosinophilic Syndrome, Idiopathic |
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Myeloproliferative disorder, Splenomegaly, Eosinophilia |
OMIM:607685 |
Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume |
OMIM:615193 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
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Lymphopenia, Eosinophilia |
ORPHA:2582 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Hypereosinophilia, Abnormal proportion of CD8-positive T cells, Abnormal n... |
OMIM:212050 |
Hyperprolactinemia |
|
Menorrhagia, Oligomenorrhea, Female infertility |
OMIM:615555 |
Spermatogenic Failure 72 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:618153 |
Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
Spermatogenic Failure 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:617576 |
Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... |
OMIM:314050 |
Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
Spermatogenic Failure 19 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:617592 |
Spermatogenic Failure 82 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... |
OMIM:620353 |
Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Leukocyte inclusion bodies, Giant platelets, Macrothrombocytopenia, Neutrophil inclusion bodies, ... |
OMIM:155100 |
Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
Generalized Eruptive Histiocytosis |
|
Leukemia, Hypereosinophilia, Histiocytosis |
ORPHA:157991 |
Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... |
OMIM:606843 |
Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Female infertility, Amenorrhea |
OMIM:620319 |
Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Female infertility, Amenorrhea |
OMIM:620383 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Increased circulating IgM level, Recurrent bacterial infe... |
OMIM:608106 |
Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu... |
ORPHA:70592 |
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 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
Thrombocytopenia 2 |
|
Leukocytosis, Thrombocytopenia |
OMIM:188000 |
Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections |
OMIM:233670 |
Immunodeficiency, Common Variable, 3 |
|
Recurrent respiratory infections, Decreased circulating total IgM, Recurrent bacterial infections... |
OMIM:613493 |
Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
Giant platelet syndrome with thrombocytopenia |
|
Giant platelets, Thrombocytopenia |
OMIM:137560 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:615081 |
Spermatogenic Failure 10 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:614822 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Immunodeficiency, Common Variable, 2 |
|
Impaired T cell function, Autoimmunity, Recurrent pneumonia, Recurrent bacterial infections, Recu... |
OMIM:240500 |
Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent pneumonia, Systemic lupus erythematosus, Recurrent tons... |
OMIM:613779 |
Reticular Dysgenesis |
|
Sepsis, Impaired T cell function, Lack of T cell function |
OMIM:267500 |
Slc35A1-Cdg |
|
Giant platelets, Neutropenia, Cellulitis, Abnormal platelet granules, Thrombocytopenia |
ORPHA:238459 |
Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... |
ORPHA:529970 |
Kimura Disease |
|
Eosinophilia |
ORPHA:482 |
Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
Eosinophilopenia |
|
Decreased eosinophil count |
OMIM:131430 |
Asherman Syndrome |
|
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... |
ORPHA:137686 |
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Impaired Ig class switch recombination, Autoimmune thrombocytopenia,... |
OMIM:608184 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
Isochromosomy Yp |
|
Male infertility, Azoospermia, Decreased testicular size |
ORPHA:98797 |
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities |
|
Unsteady gait, Eosinophilia, Abnormally low T cell receptor excision circle level |
OMIM:618092 |
Complement Component C1R/C1S Deficiency |
|
Autoimmunity, Recurrent bronchitis |
OMIM:216950 |
Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
Eosinophil Peroxidase Deficiency |
|
Eosinophil nuclear hypersegmentation |
OMIM:261500 |
Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Giant platelets, Macrothrombocytopenia, Thrombo... |
OMIM:231200 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Agammaglobulinemia, Decreased circulating ... |
OMIM:613500 |
Complement Component C1S Deficiency |
|
Hashimoto thyroiditis, Systemic lupus erythematosus |
OMIM:613783 |
Myeloproliferative Syndrome, Transient |
|
Leukocytosis, Transient myeloproliferative syndrome |
OMIM:159595 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Autoimmunity, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportuni... |
ORPHA:275 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Myh9-Related Disease |
|
Giant platelets, Neutrophil inclusion bodies, Congenital thrombocytopenia, Increased mean platele... |
ORPHA:182050 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Eosinophilia, Difficulty walking |
OMIM:253600 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hypoglycemia, Hyperglutaminemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hypoorni... |
OMIM:615751 |
Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
Bleeding Disorder, Platelet-Type, 21 |
|
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... |
OMIM:617443 |
Wiskott-Aldrich Syndrome 2 |
|
Defective T cell proliferation, Recurrent infections, Reduced natural killer cell activity |
OMIM:614493 |
Immunodeficiency 61 |
|
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG... |
OMIM:300310 |
Spermatogenic Failure, X-Linked, 6 |
|
Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai... |
OMIM:301101 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Autoimmunity, Recurrent opportunistic infections, Recurrent upper respiratory tract infections, I... |
ORPHA:277 |
Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p... |
OMIM:601859 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... |
ORPHA:263458 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Pancytopenia, Diabetes mellitus, Hypomagnesemia, Thrombocytopenia, Leukopenia, Hype... |
OMIM:613845 |
Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent bacterial inf... |
OMIM:613502 |
Pelger-Huet Anomaly |
|
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... |
OMIM:169400 |
Immunodeficiency, Common Variable, 1 |
|
Impaired T cell function, Recurrent pneumonia, Neutropenia in presence of anti-neutropil antibodi... |
OMIM:607594 |
Esophagitis, Eosinophilic, 1 |
|
Eosinophilia |
OMIM:610247 |
Esophagitis, Eosinophilic, 2 |
|
Eosinophilia |
OMIM:613412 |
Immunodeficiency 32B |
|
Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocytopenia, Thromb... |
OMIM:226990 |
Immunodeficiency 64 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Increased circulating IgA level, Autoimmune thrombocytopenia, Antinu... |
OMIM:618534 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Hyp... |
ORPHA:94093 |
Glucose-Galactose Malabsorption |
|
Failure to thrive, Hypernatremia, Hypercalcemia, Weight loss |
ORPHA:35710 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Eosinophilia |
OMIM:617638 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Systemic lupus erythemato... |
ORPHA:444463 |
Immunodeficiency 11A |
|
Agammaglobulinemia, Recurrent respiratory infections, Reduced antigen-specific T cell proliferati... |
OMIM:615206 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Recurrent respiratory infections, Recurrent viral infections, Autoimmune thrombocytopenia, Decrea... |
OMIM:300853 |
Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... |
OMIM:619802 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp... |
ORPHA:169154 |
Hypoadrenocorticism, Familial |
|
Hyponatremia, Hyperkalemia, Hypoglycemia |
OMIM:240200 |
Griscelli Syndrome, Type 2 |
|
Reduced delayed hypersensitivity, Recurrent bacterial infections |
OMIM:607624 |
Wells Syndrome |
|
Eosinophilia |
ORPHA:901 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Agammaglobulinemia, Recurrent bacterial infections, Absent isohemagglutinin level, Recurrent otit... |
OMIM:613501 |
Chronic Bilirubin Encephalopathy |
|
Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529799 |
Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Failure to thrive, Hyperglutamatemia, Hypoglycemia, H... |
ORPHA:3008 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Bilateral cryptorchidism |
OMIM:261550 |
Cernunnos-Xlf Deficiency |
|
Recurrent viral infections, Recurrent bacterial infections, Autoimmunity, Decreased circulating a... |
ORPHA:169079 |
Hyperchlorhidrosis, Isolated |
|
Hyponatremia, Failure to thrive, Hyperkalemia |
OMIM:143860 |
Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
Cinca Syndrome |
|
Leukocytosis, Eosinophilia, Anemia, Hepatosplenomegaly |
OMIM:607115 |
Sitosterolemia 1 |
|
Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro... |
OMIM:210250 |
Caspase 8 Deficiency |
|
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... |
OMIM:607271 |
Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Increased circulating IgA level, Increased circulating IgE level, Re... |
OMIM:610163 |
Immunodeficiency 66 |
|
Defective T cell proliferation, Sepsis |
OMIM:618847 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,... |
ORPHA:486 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Leukocytosis, Anemia |
OMIM:619398 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia, Neutropenia |
OMIM:616949 |
Cd8 Deficiency, Familial |
|
Recurrent respiratory infections, Recurrent bacterial infections, Recurrent viral infections |
OMIM:608957 |
Eosinophilic Fasciitis |
|
Abnormal eosinophil morphology, Eosinophilia |
ORPHA:3165 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... |
OMIM:240900 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio... |
OMIM:153670 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Failure to thrive, Hypernatremia |
OMIM:125800 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent bacterial inf... |
OMIM:612692 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Failure to thrive, Hypernatremia |
OMIM:304800 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Eosinophilia |
OMIM:618523 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Autoimmune thrombocytopenia, Anemia, Coombs-positive hemolytic anemia, Neutropenia,... |
OMIM:304790 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Eosinophilia, Cutaneous abscess |
OMIM:147060 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:610021 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p... |
OMIM:603909 |
Congenital Isolated Acth Deficiency |
|
Hyponatremia, Neonatal hypoglycemia, Hyperkalemia, Hypoglycemic seizures |
ORPHA:199296 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Failure to thrive, Hyperkalemia, Hypoglycemia |
OMIM:614736 |
Complement Component 2 Deficiency |
|
Systemic lupus erythematosus |
OMIM:217000 |
Immunodeficiency 7 |
|
Splenomegaly, Autoimmune hemolytic anemia, Hypereosinophilia, Neutropenia |
OMIM:615387 |
Necrotizing Enterocolitis |
|
Hyponatremia, Small for gestational age, Leukocytosis, Abnormal glucose homeostasis, Neutropenia,... |
ORPHA:391673 |
Premature Ovarian Failure 13 |
|
Oligomenorrhea, Female infertility, Amenorrhea |
OMIM:617442 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Autoimmune h... |
ORPHA:572 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Large for gestational age, Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:601820 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
Roifman Syndrome |
|
Hypogonadotropic hypogonadism, Eosinophilia, Hepatosplenomegaly |
ORPHA:353298 |
Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... |
OMIM:617237 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Premature Ovarian Failure 6 |
|
Streak ovary, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary ... |
OMIM:612310 |
Immunodeficiency 60 And Autoimmunity |
|
Splenomegaly, Pancytopenia, Decreased proportion of memory B cells, Decreased basophil count |
OMIM:618394 |
Glycogen Storage Disease Vi |
|
Hypertriglyceridemia, Hypoglycemia, Failure to thrive in infancy, Hyperlipidemia, Hypercholestero... |
OMIM:232700 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Recurrent respiratory infections, Autoimmunity, Autoimmune thrombocytopenia, Recurrent infections... |
OMIM:614470 |
Mirage Syndrome |
|
Hyponatremia, Hypoglycemia, Thrombocytopenia, Radial club hand, Hyperkalemia, Leukopenia, Decreas... |
OMIM:617053 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Male hypogonadism, Hyperglycemia, Hypergonadotropic hypogonadism, Glucose intolerance |
OMIM:307500 |
Premature Ovarian Failure 20 |
|
Secondary amenorrhea, Female infertility |
OMIM:619938 |
Peeling Skin Syndrome 1 |
|
Eosinophilia |
OMIM:270300 |
Isochromosomy Yq |
|
Male infertility, Azoospermia, Decreased testicular size |
ORPHA:98798 |
Immunodeficiency 81 |
|
Recurrent cutaneous abscess formation, Autoimmune hemolytic anemia, Reduced natural killer cell a... |
OMIM:619374 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Hepatosp... |
ORPHA:331206 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... |
OMIM:267700 |
Omenn Syndrome |
|
Eosinophilia, Splenomegaly, Leukocytosis, Abnormal lymphocyte morphology, Anemia |
ORPHA:39041 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy, Progressive cerebellar ataxia |
ORPHA:276183 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Autoimmune hemolytic anemia... |
OMIM:618495 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased proportion of CD3-positive T cells, Lymphopenia, Eosinophilia, Hepatosplenomegaly |
ORPHA:169160 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Autoimmunity, Abnormal immunoglobulin level, Recurrent mycobacterial infections, Increased circul... |
ORPHA:98813 |
Eosinophilic Gastroenteritis |
|
Leukocytosis, Eosinophilia, Anemia |
ORPHA:2070 |
Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... |
OMIM:620356 |
Nephrogenic Diabetes Insipidus |
|
Failure to thrive, Hypernatremia |
ORPHA:223 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Failure to thrive, Hypernatremia, Hypoalbuminemia |
OMIM:615508 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Normocytic anemia, Macrocytic anemia, Failure to thrive, Hypoglycemia, Hypercalcemi... |
ORPHA:199299 |
Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia, Hypoglycemia |
ORPHA:366 |
Roifman Syndrome |
|
Splenomegaly, Eosinophilia |
OMIM:616651 |
O'Sullivan-Mcleod Syndrome |
|
Eosinophilia |
ORPHA:99965 |
Webb-Dattani Syndrome |
|
Hypernatremia, Obesity |
OMIM:615926 |
Idiopathic Acute Eosinophilic Pneumonia |
|
Abnormal eosinophil morphology |
ORPHA:724 |
Bare Lymphocyte Syndrome, Type Ii |
|
Recurrent urinary tract infections, Recurrent viral infections, Recurrent upper respiratory tract... |
OMIM:209920 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Recurrent urinary tract infections, Autoimmune hemolytic anemia, Autoimmunity, Anticardiolipin Ig... |
OMIM:615559 |
Spermatogenic Failure 38 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... |
OMIM:618433 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis, Hepatospl... |
OMIM:618963 |
Pgm3-Cdg |
|
Hemolytic anemia, Ataxia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4... |
ORPHA:443811 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, Eosinophilia |
OMIM:243700 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilia, Hepatosplenomegaly |
OMIM:618999 |
Pemphigus Vulgaris |
|
Recurrent cutaneous abscess formation, Autoimmunity, Recurrent infections |
ORPHA:704 |
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia |
ORPHA:3225 |
Omenn Syndrome |
|
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,... |
OMIM:603554 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Failure to thrive in infancy, Giant platelets, Anemia, Camptodactyly, Thrombocytopenia |
OMIM:611209 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Sterile abscess, Eosinophilia, Cutaneous abscess |
OMIM:618282 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia |
OMIM:124900 |
Bleeding Disorder, Platelet-Type, 19 |
|
Thrombocytopenia, Macrothrombocytopenia, Anemia |
OMIM:616176 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Neonatal insulin-dependent diabetes mellitus, Hyperammonemia, Iron deficiency anemi... |
ORPHA:1667 |
Alg8-Cdg |
|
Hyponatremia, Abnormality of subcutaneous fat tissue, Small for gestational age, Anemia, Camptoda... |
ORPHA:79325 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... |
ORPHA:911 |
Hereditary Folate Malabsorption |
|
Pancytopenia, Eosinophilia, Thrombocytopenia, Megaloblastic anemia |
ORPHA:90045 |
Classic Galactosemia |
|
Male infertility, Premature ovarian insufficiency, Ataxia, Hypoglycemia, Decreased fertility in f... |
ORPHA:79239 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, T... |
OMIM:603553 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Leukocytosis, Hypereosinophilia |
ORPHA:2902 |
Central Diabetes Insipidus |
|
Hyponatremia, Failure to thrive, Weight loss |
ORPHA:178029 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Autoimmune hemolytic anemia, Autoimmunity, ... |
ORPHA:231154 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Osteomalacia, Elevated circulating C-reactive protein conc... |
OMIM:619381 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Aplasia of the thymus, Eosinophilia, Splenomegaly, B lymphocytopenia, Abnormally low T cell recep... |
OMIM:602450 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level |
OMIM:610600 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level |
OMIM:203400 |
Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
Takenouchi-Kosaki Syndrome |
|
Thrombocytopenia, Inguinal hernia, Increased mean platelet volume, Camptodactyly |
OMIM:616737 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... |
ORPHA:67044 |
Trichohepatoenteric Syndrome 1 |
|
Small for gestational age, Increased mean platelet volume, Splenomegaly, Increased serum iron, Hy... |
OMIM:222470 |
Ring Chromosome Y Syndrome |
|
Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ab... |
ORPHA:261529 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
Acute Generalized Exanthematous Pustulosis |
|
Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia |
ORPHA:293173 |
Immunodeficiency 23 |
|
Hemolytic anemia, Ataxia, Abscess, Eosinophilia, Neutropenia, Lymphopenia |
OMIM:615816 |
Spermatogenic Failure 75 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619949 |
Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent urinary tract infections, Autoimmune hemolytic anemia, Impaired T cell function, Recurr... |
OMIM:613179 |
Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:616950 |
Immunodeficiency 96 |
|
Recurrent infections, Decreased circulating total IgM, Defective T cell proliferation, Recurrent ... |
OMIM:619774 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration, Overweight, Leukocytosis, Ob... |
ORPHA:247353 |
Aica-Ribosuria Due To Atic Deficiency |
|
Hyponatremia, Hypoglycemia |
OMIM:608688 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Ankle flexion contracture, Abnormal erythrocyte enzyme level, Abnormal circulating ... |
ORPHA:100924 |
Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration |
ORPHA:1930 |
Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia |
OMIM:108420 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Obstructive azoospermia |
OMIM:301060 |
Spermatogenic Failure 66 |
|
Male infertility, Globozoospermia |
OMIM:619799 |
Spermatogenic Failure 9 |
|
Male infertility, Globozoospermia |
OMIM:613958 |
Spermatogenic Failure 67 |
|
Male infertility, Globozoospermia |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Male infertility, Globozoospermia |
OMIM:619805 |
Spermatogenic Failure 69 |
|
Male infertility, Globozoospermia |
OMIM:619826 |
Lathosterolosis |
|
Increased mean platelet volume, Acanthocytosis, Schistocytosis, Osteoporosis, Anisopoikilocytosis... |
OMIM:607330 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... |
ORPHA:75564 |
Hereditary Coproporphyria |
|
Hyponatremia, Abnormal circulating porphyrin concentration, Anemia, Atypical scarring of skin |
ORPHA:79273 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia, Leukocytosis, Thrombocytopenia |
ORPHA:83601 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Failure to thrive, Hyperkalemia |
OMIM:264350 |
Syndromic Diarrhea |
|
Inguinal hernia, Small for gestational age, Increased mean platelet volume, Splenomegaly, Hypopla... |
ORPHA:84064 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620126 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level |
OMIM:177735 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620125 |
Immunodeficiency 67 |
|
Increased circulating IgE level, Recurrent streptococcal infections, Recurrent staphylococcal inf... |
OMIM:607676 |
Renal Hypoplasia, Bilateral |
|
Hyponatremia, Small for gestational age, Hyperkalemia, Glycosuria, Failure to thrive, Anemia |
ORPHA:97362 |
Juvenile Arthritis |
|
Thrombocytosis, Leukocytosis |
OMIM:618795 |
Bernard-Soulier Syndrome |
|
Decreased platelet glycoprotein Ib-IX-V, Giant platelets, Macrothrombocytopenia, Impaired ristoce... |
ORPHA:274 |
Shigellosis |
|
Hyponatremia, Hypoglycemia, Abscess, Failure to thrive in infancy, Leukocytosis, Abnormal blood i... |
ORPHA:810 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility, Asplenia |
OMIM:618948 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Splenomegaly, Autoimmune hemolytic anemia, Hypereosinophilia |
OMIM:617388 |
Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level |
ORPHA:556037 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Abnormal circulating leucine concentration, Hypoglycemia, Failure to thrive in infancy, Hyperammo... |
ORPHA:6 |
Autoimmune Lymphoproliferative Syndrome |
|
Reticulocytosis, Autoimmune hemolytic anemia, Premature ovarian insufficiency, Eosinophilia, Auto... |
ORPHA:3261 |
Aspergillosis |
|
Eosinophilia, Neutropenia |
ORPHA:1163 |
Hyperkalemic Periodic Paralysis |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Flexion contracture, Hyperkalem... |
ORPHA:682 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Loss of ambulation, Premature ovarian insufficiency, Female infertility |
OMIM:619518 |
Cystic Echinococcosis |
|
Eosinophilia, Abscess, Abnormality of the testis size, Splenic cyst, Peritoneal abscess |
ORPHA:400 |
Loeffler Endocarditis |
|
Eosinophilia |
ORPHA:75566 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circulating IgA level, Im... |
OMIM:308230 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia |
OMIM:620103 |
Snakebite Envenomation |
|
Hyponatremia, Thrombocytopenia |
ORPHA:449285 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Impaired gluconeogenesis, Hypoglycemia |
OMIM:261650 |
Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level |
ORPHA:556030 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... |
ORPHA:232 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent infection of the gastrointestinal tract, Recurrent urinary tract infections, Autoimmuni... |
ORPHA:83471 |
Iga Pemphigus |
|
Eosinophilia, Cutaneous abscess |
ORPHA:555905 |
Bullous Pemphigoid |
|
Autoimmunity, Recurrent infections |
ORPHA:703 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Hypercholesterolemia, Incr... |
OMIM:620211 |
Colchicine Poisoning |
|
Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypo... |
ORPHA:31824 |
Alg12-Cdg |
|
Hyponatremia, Abnormal bone ossification, Recurrent hypoglycemia, Camptodactyly, B lymphocytopeni... |
ORPHA:79324 |
Immunodeficiency 36 With Lymphoproliferation |
|
Autoimmunity, Recurrent upper respiratory tract infections, Increased circulating IgM level, Recu... |
OMIM:616005 |
Storage Pool Platelet Disease |
|
Decreased mean platelet volume, Acute leukemia |
OMIM:185050 |
Igg4-Related Aortitis |
|
Hypereosinophilia |
ORPHA:449400 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Pancytopenia, Hypoglycemia, Elevated circulating creatinine concentration, Increased blood urea n... |
OMIM:617872 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Elevated circulating C-reactive protein concentration, Decreased mean platelet volume, Lymphocyto... |
OMIM:617718 |
Netherton Syndrome |
|
Hypereosinophilia |
OMIM:256500 |
Familial Glucocorticoid Deficiency |
|
Hyponatremia, Ketotic hypoglycemia, Hyperkalemia, Hypoglycemic seizures, Weight loss, Failure to ... |
ORPHA:361 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosinophilia, Autoi... |
OMIM:102700 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Eosinophilia, Lymphocytosis |
ORPHA:139402 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Increased serum pyruvate, Hypoglycemia, Small for gestational age, Hyperammonemia, Elevated circu... |
OMIM:615160 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Failure to thrive in infancy, Hyperkalemia, Weight loss, Increased circulating reni... |
ORPHA:171876 |
Addison Disease |
|
Hyponatremia, Normocytic anemia, Failure to thrive, Hypoglycemia, Hypercalcemia, Thiamine-respons... |
ORPHA:85138 |
Whipple Disease |
|
Hyponatremia, Cachexia, Splenomegaly, Insulin resistance, Anemia |
ORPHA:3452 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Failure to thrive, Severe B lymphocytopenia, Autoimmune thrombocytopenia, Hyperkale... |
ORPHA:293978 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Normocytic anemia, Hypoglycemia, Hypercalcemia, Hyperkalemia, Weight loss, Increase... |
ORPHA:95409 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology |
ORPHA:1164 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Lymphopenia, Eosinophilia |
OMIM:617425 |
Posttransplant Acute Limbic Encephalitis |
|
Hyponatremia |
ORPHA:163921 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre... |
OMIM:300539 |
Selective Igm Deficiency |
|
Recurrent staphylococcal infections, Paraproteinemia, Sepsis, Recurrent cutaneous fungal infectio... |
ORPHA:331235 |
Cholera |
|
Hyponatremia, Hypoglycemia, Abnormal blood ion concentration, Hypokalemia, Hypocalcemia |
ORPHA:173 |
Cyclic Neutropenia |
|
Cyclic neutropenia, Perianal abscess, Decreased eosinophil count, Lymphopenia, Tooth abscess, Thr... |
ORPHA:2686 |
Thrombocytopenia 3 |
|
Thrombocytopenia, Decreased mean platelet volume |
OMIM:273900 |
Orthostatic Hypotension 2 |
|
Hypoglycemia, Anemia |
OMIM:618182 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hyponatremia, Failure to thrive |
OMIM:620157 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc... |
ORPHA:90038 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Gait disturbance, Eosinophilia |
ORPHA:183 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia |
ORPHA:91354 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Eosinophilia |
ORPHA:2314 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Hypoglycemia, Hyperammonemia |
ORPHA:664 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Recurrent upper respirato... |
OMIM:615952 |
Chédiak-Higashi Syndrome |
|
Hyponatremia, Abnormal leukocyte morphology, Pancytopenia, Hypertriglyceridemia, Increased circul... |
ORPHA:167 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Inguinal hernia, Increased mean platelet volume, Flexion contracture, Camptodactyly, Thrombocytop... |
ORPHA:487796 |
Unclassified Myelodysplastic Syndrome |
|
Acute myeloid leukemia, Leukocytosis, Bone marrow hypocellularity |
ORPHA:98827 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Failure to thrive, Hyperkalemia, Hypoglycemia |
ORPHA:90790 |
Ciliary Dyskinesia, Primary, 37 |
|
Female infertility |
OMIM:617577 |
Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Glycogen Storage Disease Ixa1 |
|
Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Failure to thrive, Neonatal hypogl... |
ORPHA:90791 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:300971 |
Immunodeficiency 22 |
|
Autoimmunity, Recurrent upper respiratory tract infections, Decreased circulating total IgM, Decr... |
OMIM:615758 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
Legionnaires Disease |
|
Hyponatremia, Splenomegaly, Lymphopenia, Cellulitis |
ORPHA:549 |
Spermatogenic Failure 28 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size |
OMIM:618086 |
Hartsfield Syndrome |
|
Hypernatremia, Craniosynostosis |
OMIM:615465 |
Ovarian Dysgenesis 3 |
|
Primary amenorrhea, Female infertility |
OMIM:614324 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Hypochloremia, Hypokalemia, Increased circulating renin level, Failure to thrive |
OMIM:214700 |
Bleeding Disorder, Platelet-Type, 17 |
|
Myelofibrosis, Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules... |
OMIM:187900 |
Alveolar Echinococcosis |
|
Liver abscess, Ataxia, Eosinophilia, Abnormal spleen morphology, Anemia, Cutaneous abscess |
ORPHA:284 |
Lymphoproliferative Syndrome 1 |
|
Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Recurrent infections, Dec... |
OMIM:613011 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Small for gestational age, Insulin-resistant diabetes mellitus, Hyperinsulinemia, D... |
OMIM:262190 |
Porphyria Variegata |
|
Hyponatremia, Abnormal circulating porphyrin concentration, Scarring, Anemia |
ORPHA:79473 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent viral infections, Recurrent bronchopulmonary infections, Recurrent pneumonia, Pyoderma,... |
OMIM:242700 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Inability to walk, Decreased proportion of CD8-positive T cells, Hypereosinophilia, T lymphocytop... |
ORPHA:508533 |
Angiostrongyliasis |
|
Hypereosinophilia |
ORPHA:74 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Recurrent respiratory infections, Partial IgA deficiency, Recurrent viral infections, Recurrent o... |
ORPHA:35078 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Autoimmunity, Recurrent upp... |
ORPHA:183675 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Macroorchidism, Oligozoospermia |
ORPHA:3000 |
Pituitary Apoplexy |
|
Hyponatremia, Normochromic anemia, Hypoglycemia |
ORPHA:95613 |
Pemphigus Erythematosus |
|
Antinuclear antibody positivity, Anti-acetylcholine receptor antibody positivity, Autoimmunity, S... |
ORPHA:79480 |
Aromatase Deficiency |
|
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... |
ORPHA:91 |
Beta-Thalassemia Intermedia |
|
Osteopenia, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Diabetes mellitus, Anemia of... |
ORPHA:231222 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Autoimmunity, Recurrent viral infections, Recurrent mycobacterial infections, Sepsis, Recurrent b... |
ORPHA:169090 |
Thrombocytopenia 1 |
|
Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia |
OMIM:313900 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyponatremia, Hyperkalemia, Osteoporosis, Reduced bone mineral density, Abnormal circulating chol... |
ORPHA:168558 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Decreased lymphocyte proliferation in response to anti-CD3, Recurrent upper respiratory tract inf... |
OMIM:600802 |
Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyponatremia, Hyperkalemia, Osteoporosis, Reduced bone mineral density, Abnormal circulating chol... |
ORPHA:289548 |
Sheehan Syndrome |
|
Hyponatremia, Normochromic anemia, Hypoglycemia, Obesity |
ORPHA:91355 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Glycosuria, Hypokalemi... |
ORPHA:411634 |
Mucoepithelial Dysplasia, Hereditary |
|
Eosinophilia |
OMIM:158310 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Hypoglycemia, Hyperammonemia, Leukopenia, Hyperglycinemia, Neutropenia, F... |
OMIM:251000 |
Familial Hypoaldosteronism |
|
Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level |
ORPHA:427 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Thrombocytopenia, Neutropenia |
OMIM:603585 |
Idiopathic Hypereosinophilic Syndrome |
|
Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Mye... |
ORPHA:3260 |
Ciliary Dyskinesia, Primary, 45 |
|
Male infertility |
OMIM:618801 |
Immunodeficiency 89 And Autoimmunity |
|
Decreased eosinophil count, Hypochromic microcytic anemia |
OMIM:619632 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Hemolytic anemia, Brain abscess, Diabetes mellitus, Leukocytosis, Hyperkalemia, Hyp... |
ORPHA:544482 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Bone-marrow foam cells, Cachexia, Hypersplenism, Vacuolated l... |
ORPHA:275761 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Osteopenia, Splenomegaly, Hypokalemia, Hypocalcemia |
OMIM:617913 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Anemia |
OMIM:618838 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Failure to thrive |
OMIM:613090 |
Primary Ciliary Dyskinesia |
|
Male infertility, Female infertility, Asplenia, Polysplenia, Abnormal sperm motility |
ORPHA:244 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Diabetes mellitus, Hypouricemia, Hypoglycemia, Large for gestational age, Rickets, Hypophosphatem... |
OMIM:616026 |
Adrenal Hypoplasia, Congenital |
|
Hyponatremia, Failure to thrive |
OMIM:300200 |
Incontinentia Pigmenti |
|
Gait disturbance, Eosinophilia |
ORPHA:464 |
Incontinentia Pigmenti |
|
Leukocytosis, Eosinophilia |
OMIM:308300 |
Cystinosis, Nephropathic |
|
Hyponatremia, Diabetes mellitus, Failure to thrive in infancy, Splenomegaly, Rickets, Reduced blo... |
OMIM:219800 |
Sjogren Syndrome |
|
Autoimmunity, Rheumatoid arthritis |
OMIM:270150 |
Subcorneal Pustular Dermatosis |
|
Increased circulating antibody level, Autoimmunity, Rheumatoid arthritis, Systemic lupus erythema... |
ORPHA:48377 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility |
OMIM:300991 |
Lymphatic Filariasis |
|
Orchitis, Hypereosinophilia, Vaginal hydrocele, Hydrocele testis |
ORPHA:2035 |
Rabin-Pappas Syndrome |
|
Hyponatremia, Failure to thrive in infancy, Obesity |
OMIM:620155 |
Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
Spermatogenic Failure 14 |
|
Male infertility, Azoospermia |
OMIM:615842 |
Holoprosencephaly |
|
Hyponatremia, Omphalocele, Diabetes mellitus, Hypoglycemia, Failure to thrive in infancy, Congeni... |
ORPHA:2162 |
Cushing Disease |
|
Diabetes mellitus, Impaired glucose tolerance, Leukocytosis, Secondary amenorrhea, Oligomenorrhea... |
ORPHA:96253 |
Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Azoospermia |
OMIM:301077 |
Coccidioidomycosis |
|
Eosinophilia, Abscess, Abnormality of the spleen, Granuloma, Abnormal sperm morphology |
ORPHA:228123 |
Hereditary Chronic Pancreatitis |
|
Leukocytosis, Diabetes mellitus |
ORPHA:676 |
Thrombocytopenia-Absent Radius Syndrome |
|
Eosinophilia, Leukocytosis, Hepatosplenomegaly, Anemia, Thrombocytopenia |
OMIM:274000 |
Adenohypophysitis |
|
Hyponatremia, Normochromic anemia |
ORPHA:95512 |
Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Reduced sperm motility, Polysplenia, Immotile sperm |
OMIM:613807 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Irregular menstruation, Female infertility, Amenorrhea |
OMIM:110100 |
Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Immotile sperm |
OMIM:617091 |
Igg4-Related Submandibular Gland Disease |
|
Prostatitis, Eosinophilia |
ORPHA:449432 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia |
OMIM:277180 |
Panhypophysitis |
|
Hyponatremia, Normochromic anemia |
ORPHA:95513 |
Infant Botulism |
|
Hyponatremia |
ORPHA:178478 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Unconjugated hyperbilirubinemia, Poiki... |
OMIM:300908 |
Japanese Encephalitis |
|
Hyponatremia, Neutrophilia, Elbow flexion contracture |
ORPHA:79139 |
Igg4-Related Pachymeningitis |
|
Eosinophilia |
ORPHA:449427 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Lipodystrophy, Failure to thrive in infancy, Elevated circulating C-reactive protei... |
OMIM:617099 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
OMIM:618183 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Inguinal hernia, Hypoammonemia, Abnormal dental enamel morphology, Osteomalacia, An... |
ORPHA:534 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:620197 |
Liver Disease, Severe Congenital |
|
Hyponatremia, Inguinal hernia, Elevated circulating alpha-fetoprotein concentration, Increased ci... |
OMIM:619991 |
Familial Dysautonomia |
|
Hyponatremia, Osteolysis |
ORPHA:1764 |
Bartter Syndrome Type 4 |
|
Hyponatremia, Small for gestational age, Hypochloremia, Hypokalemia, Increased circulating renin ... |
ORPHA:89938 |
Igg4-Related Ophthalmic Disease |
|
Orchitis, Prostatitis, Eosinophilia |
ORPHA:449563 |
Fanconi Anemia, Complementation Group A |
|
Male infertility, Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Thrombocytopenia,... |
OMIM:227650 |
Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Abnormality of the menstrual... |
ORPHA:906 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Failure to thrive |
OMIM:602522 |
Ciliary Dyskinesia, Primary, 9 |
|
Male infertility |
OMIM:612444 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Immotile sperm |
OMIM:614874 |
Hereditary Orotic Aciduria |
|
Recurrent respiratory infections, Impaired T cell function |
ORPHA:30 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperammonemia |
OMIM:610505 |
Sickle Cell Disease |
|
Hemolytic anemia, Splenomegaly, Leukocytosis, Splenic infarction, Target cells, Increased red cel... |
OMIM:603903 |
Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Hyponatremia, Failure to thrive, Small for gestational age |
OMIM:618252 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Hyperlipidemia, Hyperkalemia, Obesity, Hyperglycemia |
ORPHA:293987 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyponatremia, Hyperkalemia, Weight loss, Hypochloremia, Failure to thrive, Neonatal hypoglycemia |
ORPHA:90794 |
Acute Intermittent Porphyria |
|
Hyponatremia |
ORPHA:79276 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hyponatremia, Hypokalemia, Failure to thrive |
OMIM:618426 |
Igg4-Related Kidney Disease |
|
Prostatitis, Eosinophilia |
ORPHA:449395 |
Sarcoidosis |
|
Hemolytic anemia, Eosinophilia, Increased T cell count, Anemia, Leukopenia, Thrombocytopenia |
ORPHA:797 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Hypersplenism, Splenomegaly, Hepatosplenomegaly, Increased serum bile acid concentr... |
ORPHA:731 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Impaired T cell function, Recurrent candida infections |
OMIM:201100 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyponatremia, Hyperkalemia |
OMIM:201810 |
Bloom Syndrome |
|
Male infertility, Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Premature... |
ORPHA:125 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility |
ORPHA:2239 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Diabetes mellitus, Impaired glucose tolerance, Leukocytosis, Secondary amenorrhea, Oligomenorrhea... |
ORPHA:99889 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Hyponatremia, Hypoglycemia, Small for gestational age, Craniosynostosis, Hyperkalemia, Camptodact... |
OMIM:201750 |
Ciliary Dyskinesia, Primary, 19 |
|
Male infertility |
OMIM:614935 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:619607 |
47,Xyy Syndrome |
|
Male infertility, Cryptorchidism, Oligozoospermia, Azoospermia, Macroorchidism |
ORPHA:8 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility... |
ORPHA:572333 |
Partial Androgen Insensitivity Syndrome |
|
Male infertility, Bilateral cryptorchidism, Primary amenorrhea, Azoospermia, Male sexual dysfunct... |
ORPHA:90797 |
Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Hypoglycemia, Osteomalacia, Bicarbonaturia, Hypophosphatemia, Weight loss, Glycosur... |
ORPHA:3337 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Male infertility, Primary testicular failure, Oligozoospermia, Hepatosplenomegaly, Hypogonadism, ... |
ORPHA:85450 |
Tropical Endomyocardial Fibrosis |
|
Splenomegaly, Eosinophilia |
ORPHA:75565 |
Ciliary Dyskinesia, Primary, 1 |
|
Male infertility, Asplenia |
OMIM:244400 |
Primary Sclerosing Cholangitis |
|
Abnormal eosinophil morphology, Splenomegaly, Hepatosplenomegaly, Type I diabetes mellitus, Histi... |
ORPHA:171 |
Complete Androgen Insensitivity Syndrome |
|
Bilateral cryptorchidism, Testicular neoplasm, Primary amenorrhea, Male infertility |
ORPHA:99429 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Premature ovarian insufficiency, Female infertility, Hyperinsulinemia, Secondary amenorrhea, Prim... |
ORPHA:99413 |
Turner Syndrome |
|
Premature ovarian insufficiency, Female infertility, Hyperinsulinemia, Secondary amenorrhea, Prim... |
ORPHA:881 |
Mosaic Monosomy X |
|
Premature ovarian insufficiency, Female infertility, Hyperinsulinemia, Secondary amenorrhea, Prim... |
ORPHA:99228 |
Monosomy X |
|
Premature ovarian insufficiency, Female infertility, Hyperinsulinemia, Secondary amenorrhea, Prim... |
ORPHA:99226 |
Viss Syndrome |
|
Hypereosinophilia |
OMIM:619472 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Male infertility, Bilateral cryptorchidism, Irregular menstruation, Decreased fertility, Primary ... |
ORPHA:90793 |
Progeroid Short Stature With Pigmented Nevi |
|
Impaired T cell function, Recurrent viral infections |
OMIM:176690 |
46,Xy Partial Gonadal Dysgenesis |
|
Male infertility, Streak ovary, Hypergonadotropic hypogonadism, Decreased fertility in females, C... |
ORPHA:251510 |
Dermatomyositis |
|
Abnormal eosinophil morphology |
ORPHA:221 |
Noonan Syndrome 1 |
|
Male infertility, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Cryptorchid... |
OMIM:163950 |
Cystic Fibrosis |
|
Male infertility, Hepatosplenomegaly |
OMIM:219700 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Abnormality of T cell physiology |
ORPHA:2237 |
Sarcoidosis, Susceptibility To, 1 |
|
Abnormality of T cell physiology, Increased circulating antibody level |
OMIM:181000 |