Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:617743 |
Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:616780 |
Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:619011 |
Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility |
OMIM:619009 |
Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
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 15 |
|
Female infertility |
OMIM:616814 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Female infertility |
OMIM:617996 |
Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Female infertility, Osteoporosis, Primary amenorrhea |
OMIM:300604 |
Premature Ovarian Failure 19 |
|
Irregular menstruation, Female infertility, Premature ovarian insufficiency, Secondary amenorrhea |
OMIM:619245 |
Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility |
OMIM:619176 |
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 20 |
|
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella |
OMIM:617593 |
Spermatogenic Failure 35 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Male infe... |
OMIM:618341 |
Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
Spermatogenic Failure 62 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Spermatogenic Failure 73 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619937 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Oocyte arrest at metaphase I, Female infertility, Abnormal spermatogenesis, Abnormal meiosis |
ORPHA:488191 |
Spermatogenic Failure 43 |
|
Absent sperm flagella, Absent sperm axoneme central pair complex, Reduced sperm motility, Male in... |
OMIM:618751 |
Spermatogenic Failure 45 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619094 |
Spermatogenic Failure 19 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:617592 |
Spermatogenic Failure 49 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619144 |
Spermatogenic Failure 37 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:617576 |
Spermatogenic Failure 46 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:619095 |
Spermatogenic Failure 27 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... |
OMIM:617965 |
Spermatogenic Failure 33 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:618152 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure 72 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Irregular... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... |
OMIM:618153 |
Spermatogenic Failure 1 |
|
Oligospermia, Cryptozoospermia, Male infertility |
OMIM:258150 |
Spermatogenic Failure 29 |
|
Male infertility, Immotile sperm, Non-obstructive azoospermia |
OMIM:618091 |
Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
Spermatogenic Failure 7 |
|
Oligospermia, Male infertility, Reduced sperm motility, Immotile sperm |
OMIM:612997 |
Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
Spermatogenic Failure 5 |
|
Multiflagellar spermatozoa, Male infertility, Macrocephalic sperm head |
OMIM:243060 |
Spermatogenic Failure 11 |
|
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:615081 |
Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:614822 |
Spermatogenic Failure 44 |
|
Male infertility, Reduced sperm motility, Acephalic spermatozoa |
OMIM:619044 |
Spermatogenic Failure 22 |
|
Cryptozoospermia, Male infertility, Non-obstructive azoospermia |
OMIM:617706 |
Spermatogenic Failure 16 |
|
Male infertility, Reduced sperm motility, Acephalic spermatozoa |
OMIM:617187 |
Spermatogenic Failure 78 |
|
Microcephalic sperm head, Male infertility, Tapered sperm head |
OMIM:620170 |
Spermatogenic Failure 47 |
|
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm |
OMIM:619102 |
Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Oligospermia, Male infertility, Azoospermia |
OMIM:619108 |
Hyperprolactinemia |
|
Female infertility, Menorrhagia, Oligomenorrhea |
OMIM:615555 |
Spermatogenic Failure 58 |
|
Short sperm flagella, Oligospermia, Irregularly shaped sperm tail, Male infertility, Reduced prog... |
OMIM:619585 |
Spermatogenic Failure 40 |
|
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Coiled sperm flagell... |
OMIM:618664 |
Spermatogenic Failure 76 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:620084 |
Spermatogenic Failure, X-Linked, 3 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:301059 |
Spermatogenic Failure 56 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:619515 |
Spermatogenic Failure 41 |
|
Tapered sperm head, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm |
OMIM:618670 |
Spermatogenic Failure 65 |
|
Absent sperm flagella, Abnormal sperm mid-piece morphology, Short sperm flagella, Reduced sperm m... |
OMIM:619712 |
Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619528 |
Spermatogenic Failure 70 |
|
Oligospermia, Reduced sperm motility, Azoospermia, Male infertility |
OMIM:619828 |
Spermatogenic Failure 42 |
|
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Male inf... |
OMIM:618745 |
Spermatogenic Failure 32 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619831 |
Spermatogenic Failure 64 |
|
Reduced progressive sperm motility, Oligospermia, Male infertility, Abnormal sperm head morphology |
OMIM:619696 |
Spermatogenic Failure 39 |
|
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospe... |
OMIM:618643 |
Spermatogenic Failure 25 |
|
Early spermatogenesis maturation arrest, Cryptozoospermia, Male infertility, Non-obstructive azoo... |
OMIM:617960 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Male infertility, Immotile sperm |
OMIM:608653 |
Male Infertility Due To Acephalic Spermatozoa |
|
Abnormal sperm mid-piece morphology, Reduced sperm motility, Oligospermia, Male infertility, Acep... |
ORPHA:529970 |
Spermatogenic Failure 54 |
|
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospermia, Cryptozoospermia,... |
OMIM:619379 |
Spermatogenic Failure 63 |
|
Oligospermia, Male infertility, Reduced progressive sperm motility |
OMIM:619689 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Male infertility, Azoospermia |
OMIM:619145 |
Osteomesopyknosis |
|
Increased bone mineral density, Infertility |
OMIM:166450 |
Immunodeficiency 88 |
|
BCGosis, Eosinophilia |
OMIM:619630 |
Spermatogenic Failure 30 |
|
Spermatogenesis maturation arrest, Cryptozoospermia, Male infertility, Azoospermia |
OMIM:618110 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Deafness-Infertility Syndrome |
|
Abnormal sperm tail morphology, Abnormal spermatogenesis, Reduced sperm motility, Male infertilit... |
OMIM:611102 |
Partial Chromosome Y Deletion |
|
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia |
ORPHA:1646 |
Asherman Syndrome |
|
Decreased fertility in females, Secondary amenorrhea, Infertility, Abnormality of the menstrual c... |
ORPHA:137686 |
Myelolymphatic Insufficiency |
|
Leukopenia, Recurrent bacterial infections, Hyposegmentation of neutrophil nuclei, Recurrent vira... |
OMIM:310350 |
Eosinophil Peroxidase Deficiency |
|
Eosinophil nuclear hypersegmentation |
OMIM:261500 |
Spermatogenic Failure 66 |
|
Globozoospermia, Male infertility |
OMIM:619799 |
Spermatogenic Failure 67 |
|
Globozoospermia, Male infertility |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Globozoospermia, Male infertility |
OMIM:619805 |
Spermatogenic Failure 9 |
|
Globozoospermia, Male infertility |
OMIM:613958 |
Spermatogenic Failure 69 |
|
Globozoospermia, Male infertility |
OMIM:619826 |
Spermatogenic Failure, X-Linked, 2 |
|
Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia |
OMIM:309120 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Anemia, Increased circulating antibody level, Acute monocytic leukemia, Recurrent bacterial infec... |
OMIM:202700 |
Spermatogenic Failure 21 |
|
Infertility, Reduced sperm motility, Acephalic spermatozoa |
OMIM:617644 |
Spermatogenic Failure 6 |
|
Globozoospermia, Male infertility, Decreased acrosin in sperm head |
OMIM:102530 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Hypereosinophilia, Abnormal natural killer cell count, Chronic oral candidiasis, Abnormal proport... |
OMIM:212050 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
B lymphocytopenia, Post-vaccination polio, Recurrent otitis media, Recurrent infections, Agammagl... |
OMIM:616941 |
Premature Ovarian Failure 13 |
|
Female infertility, Amenorrhea, Oligomenorrhea |
OMIM:617442 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility |
OMIM:261550 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia, Recurrent infections |
OMIM:617014 |
Isochromosomy Yp |
|
Male infertility, Azoospermia |
ORPHA:98797 |
Familial Hyperprolactinemia |
|
Female hypogonadism, Infertility, Osteopenia, Menorrhagia, Oligomenorrhea, Osteoporosis, Amenorrhea |
ORPHA:397685 |
Premature Ovarian Failure 20 |
|
Female infertility, Secondary amenorrhea |
OMIM:619938 |
Spermatogenic Failure 75 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619949 |
Spermatogenic Failure 38 |
|
Absent sperm flagella, Tapered sperm head, Reduced sperm motility, Oligospermia, Male infertility... |
OMIM:618433 |
Eosinophilia, Familial |
|
Anemia, Recurrent bronchitis, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
Premature Ovarian Failure 6 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Female infertility, Primary amenorrhea, St... |
OMIM:612310 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Pancreatic islet-cell hyperplasia |
OMIM:601820 |
Eosinophilopenia |
|
Decreased eosinophil count, Allergic rhinitis |
OMIM:131430 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Decreased circulating total IgM, Bronchiectasis, Disseminated molluscum contagiosum, Ulcerative c... |
OMIM:617638 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Panhypogammaglobulinemia, Neutropenia, Erythema nodosum, Agamm... |
OMIM:615214 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Erythroderma, Chronic oral candidiasis, Increased circulating antibody level, Decreased proportio... |
ORPHA:169160 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Obstructive azoospermia |
OMIM:301060 |
Isochromosomy Yq |
|
Male infertility, Azoospermia |
ORPHA:98798 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Reduced natural killer cell count, Disseminated molluscum contagiosum, Bronchiectasis, Decreased ... |
OMIM:243700 |
Spermatogenic Failure 15 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:616950 |
Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Eosinophilia, Myeloproliferative disorder |
OMIM:131440 |
Spermatogenic Failure 2 |
|
Oligospermia, Male infertility, Azoospermia, Non-obstructive azoospermia |
OMIM:108420 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neutropenia, Eosinophilia |
OMIM:257100 |
Immunodeficiency 32B |
|
Abnormal circulating IgG level, Anemia, BCGitis, Monocytopenia, Bronchiectasis, Neutrophilia, Pne... |
OMIM:226990 |
Immunodeficiency 25 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, T lymphocytop... |
OMIM:610163 |
Nevoid Hypermelanosis, Linear And Whorled |
|
Eosinophilia |
OMIM:614323 |
Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Male infertility, Azoospermia |
ORPHA:276183 |
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
|
Methicillin-resistant Staphylococcus aureus infection, Sterile abscess, Chronic oral candidiasis,... |
OMIM:618282 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
T lymphocytopenia, Hepatosplenomegaly, Eosinophilia, Erythroderma, Decreased proportion of CD4-po... |
ORPHA:169154 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Recurrent Staphylococcus aureus infections, Skin rash, Recurrent sinopulmonary infections, Chroni... |
OMIM:147060 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Hepatosplenomegaly, Eosinophilia, Colitis, Recurrent viral infections, Pneumonia, Lymphadenitis, ... |
ORPHA:911 |
Immunodeficiency 7 |
|
Hypereosinophilia, Persistent EBV viremia, Severe varicella zoster infection, Chronic oral candid... |
OMIM:615387 |
Spermatogenic Failure 77 |
|
Multiflagellar spermatozoa, Oligospermia, Male infertility, Azoospermia |
OMIM:620103 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Reduced antigen-specific T cell proliferation, Abnormal B cell count, Hepatosplenomegaly, Abnorma... |
ORPHA:331206 |
Ovarian Dysgenesis 3 |
|
Female infertility, Primary amenorrhea |
OMIM:614324 |
Eosinophilic Fasciitis |
|
Arthritis, Fasciitis, Abnormal eosinophil morphology, Myositis, Eosinophilia |
ORPHA:3165 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Recurrent ear infections, Acute myeloid leukemia, Recurrent aphthous stomatitis, Rhinitis, Neutro... |
ORPHA:486 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia |
OMIM:277180 |
Juvenile Temporal Arteritis |
|
Conjunctivitis, Allergic rhinitis, Leukocytosis, Eosinophilia |
ORPHA:26137 |
Cyclic Neutropenia |
|
Opportunistic infection, Perianal abscess, Severe infection, Enterocolitis, Periodontitis, Perito... |
ORPHA:2686 |
Halothane Hepatitis |
|
Hepatitis, Viral hepatitis, Eosinophilia |
OMIM:234350 |
Congenital Bilateral Absence Of Vas Deferens |
|
Oligospermia, Male infertility, Obstructive azoospermia |
ORPHA:48 |
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive |
|
Bronchiectasis, Eczema, Recurrent otitis media, Eosinophilia, Keratitis, Recurrent respiratory in... |
OMIM:618523 |
Ring Chromosome Y Syndrome |
|
Abnormal spermatogenesis, Azoospermia, Male hypogonadism, Female infertility, Male infertility, S... |
ORPHA:261529 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Arthritis, Lymphopenia, Eosinophilia |
ORPHA:2582 |
Idiopathic Acute Eosinophilic Pneumonia |
|
Abnormal eosinophil morphology |
ORPHA:724 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Eczema, Hepatosplenomegaly, Eosin... |
OMIM:619802 |
Spermatogenic Failure 14 |
|
Male infertility, Azoospermia, Late spermatogenesis maturation arrest |
OMIM:615842 |
Ichthyosis-Prematurity Syndrome |
|
Eosinophilia |
ORPHA:88621 |
Spermatogenic Failure 28 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:618086 |
Generalized Eruptive Histiocytosis |
|
Hypereosinophilia, Maculopapular exanthema, Histiocytosis, Leukemia |
ORPHA:157991 |
Acute Myelomonocytic Leukemia |
|
Leukocytosis, Anemia, Thrombocytopenia, Eosinophilia |
ORPHA:517 |
Ciliary Dyskinesia, Primary, 45 |
|
Male infertility |
OMIM:618801 |
Omenn Syndrome |
|
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Recurrent bacteria... |
OMIM:603554 |
Kimura Disease |
|
Increased circulating IgE level, Eosinophilia |
ORPHA:482 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology, Bronchiectasis |
ORPHA:1164 |
Ciliary Dyskinesia, Primary, 37 |
|
Female infertility |
OMIM:617577 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Hepatosplenomegaly, Colonic eosinophilia, Eosinophilia, Recurrent viral infections, Atopic dermat... |
OMIM:618999 |
Pgm3-Cdg |
|
T lymphocytopenia, Bronchiectasis, Reduced antigen-specific T cell proliferation, Eczema, Bone ma... |
ORPHA:443811 |
Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Azoospermia |
OMIM:301077 |
Familial Male-Limited Precocious Puberty |
|
Oligospermia, Male infertility |
ORPHA:3000 |
Annular Pancreas |
|
Annular pancreas |
ORPHA:675 |
Pancreas, Annular |
|
Annular pancreas |
OMIM:167750 |
Hypereosinophilic Syndrome, Idiopathic |
|
Splenomegaly, Eosinophilia, Myeloproliferative disorder |
OMIM:607685 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Absent specific antibody response, Eosinophilia, Recurrent viral infections, Pneumonia, Splenomeg... |
OMIM:102700 |
Autoimmune Lymphoproliferative Syndrome |
|
Coombs-positive hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Increased... |
OMIM:601859 |
Immunodeficiency 89 And Autoimmunity |
|
Crohn's disease, Bronchiectasis, Increased circulating IgG level, Decreased eosinophil count, Inc... |
OMIM:619632 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Premature ovarian insufficiency, Female infertility |
OMIM:619518 |
Duodenal Atresia |
|
Abnormality of the pancreas, Annular pancreas |
ORPHA:1203 |
Macrosomia Adiposa Congenita |
|
Eosinophilia |
OMIM:248100 |
Cinca Syndrome |
|
Anemia, Skin rash, Arthritis, Uveitis, Hepatosplenomegaly, Meningitis, Leukocytosis, Eosinophilia |
OMIM:607115 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility |
OMIM:300991 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Panhypogammaglobulinemia, BCGitis, B lymphocytopenia, Lymphopenia, Abnormally low T cell receptor... |
OMIM:602450 |
Esophagitis, Eosinophilic, 1 |
|
Esophagitis, Eosinophilia |
OMIM:610247 |
Esophagitis, Eosinophilic, 2 |
|
Esophagitis, Eosinophilia |
OMIM:613412 |
Immunodeficiency 23 |
|
Persistent EBV viremia, Severe varicella zoster infection, Neutropenia, Hemolytic anemia, Recurre... |
OMIM:615816 |
Aromatase Deficiency |
|
Female infertility, Male infertility, Hypergonadotropic hypogonadism, Osteopenia, Primary amenorr... |
ORPHA:91 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Anemia, Severe infection, Hepatitis, Coombs-positive hemolytic anemia, Arthritis, Eczema, Autoimm... |
OMIM:304790 |
Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Immotile sperm |
OMIM:617091 |
Hereditary Folate Malabsorption |
|
Megaloblastic anemia, Recurrent urinary tract infections, Decreased circulating antibody level, P... |
ORPHA:90045 |
Classic Galactosemia |
|
Decreased fertility in females, Primary amenorrhea, Secondary amenorrhea, Premature ovarian insuf... |
ORPHA:79239 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased B cell count, Malar rash, Coombs-positive hemolytic anemia, Neutropenia in presence of ... |
OMIM:603909 |
Wiskott-Aldrich Syndrome |
|
Hypoplasia of the thymus, Eczema, Meningitis, Thrombocytopenia, Sepsis, Arthritis, Neutropenia, R... |
ORPHA:906 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Female infertility, Amenorrhea, Irregular menstruation |
OMIM:110100 |
Pancreatic Agenesis 2 |
|
Pancreatic hypoplasia, Pancreatic aplasia, Exocrine pancreatic insufficiency |
OMIM:615935 |
Wiskott-Aldrich Syndrome |
|
Recurrent sinusitis, Eczema, Eosinophilia, Decreased proportion of CD4-positive helper T cells, D... |
OMIM:301000 |
Pancreatitis, Hereditary |
|
Exocrine pancreatic insufficiency, Pancreatic pseudocyst, Pancreatic calcification, Pancreatitis |
OMIM:167800 |
Omenn Syndrome |
|
Anemia, Sepsis, Erythroderma, Thyroiditis, Leukocytosis, Eosinophilia, Pneumonia, Splenomegaly, A... |
ORPHA:39041 |
African Iron Overload |
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Hepatic fibrosis, Hepatitis, Hepatocellular carcinoma, Hepatic bridging fibrosis, Hepatic steatos... |
ORPHA:139507 |
Peeling Skin Syndrome 1 |
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Increased circulating IgE level, Eosinophilia, Erythroderma |
OMIM:270300 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
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Myositis, Eosinophilia |
OMIM:253600 |
Ciliary Dyskinesia, Primary, 18 |
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Male infertility, Immotile sperm |
OMIM:614874 |
Primary Ciliary Dyskinesia |
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Female infertility, Male infertility, Abnormal sperm motility |
ORPHA:244 |
Ciliary Dyskinesia, Primary, 9 |
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Male infertility |
OMIM:612444 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
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Tubulointerstitial nephritis, Hepatitis, Lymphocytosis, Skin rash, Thyroiditis, Interstitial pneu... |
ORPHA:139402 |
Ciliary Dyskinesia, Primary, 14 |
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Male infertility, Reduced sperm motility, Immotile sperm |
OMIM:613807 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
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Male infertility |
ORPHA:2239 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
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Male infertility |
OMIM:619607 |
Tropical Pancreatitis |
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Pancreatic adenocarcinoma, Chronic calcifying pancreatitis, Pancreatic calcification, Jaundice, A... |
ORPHA:103918 |
Iga Pemphigus |
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Monoclonal elevation of circulating IgA, Neutrophilic infiltration of the skin, Cutaneous abscess... |
ORPHA:555905 |
Autosomal Dominant Hyper-Ige Syndrome |
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Osteomyelitis, Skin rash, Eczema, Recurrent infections, Eosinophilia, Recurrent respiratory infec... |
ORPHA:2314 |
Autoimmune Lymphoproliferative Syndrome |
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Coombs-positive hemolytic anemia, Reticulocytosis, Glomerulonephritis, Gastritis, Bone marrow hyp... |
ORPHA:3261 |
Ciliary Dyskinesia, Primary, 19 |
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Male infertility |
OMIM:614935 |
Primary Sclerosing Cholangitis |
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Recurrent systemic pyogenic infections, Hepatitis, Thyroiditis, Pancreatitis, Abnormal eosinophil... |
ORPHA:171 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
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Decreased fertility, Secondary amenorrhea, Premature ovarian insufficiency, Female infertility, H... |
ORPHA:572333 |
Androgen Insensitivity Syndrome |
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Male infertility |
ORPHA:754 |
47,Xyy Syndrome |
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Oligospermia, Male infertility, Azoospermia |
ORPHA:8 |
Dermatomyositis |
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Recurrent respiratory infections, Arthritis, Abnormal eosinophil morphology, Pericarditis, Myocar... |
ORPHA:221 |
Complete Androgen Insensitivity Syndrome |
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Male infertility, Primary amenorrhea |
ORPHA:99429 |
Partial Androgen Insensitivity Syndrome |
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Male infertility, Azoospermia, Male sexual dysfunction, Primary amenorrhea |
ORPHA:90797 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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Secondary amenorrhea, Premature ovarian insufficiency, Female infertility, Osteopenia, Primary am... |
ORPHA:99413 |
Turner Syndrome |
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Secondary amenorrhea, Premature ovarian insufficiency, Female infertility, Osteopenia, Primary am... |
ORPHA:881 |
Mosaic Monosomy X |
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Secondary amenorrhea, Premature ovarian insufficiency, Female infertility, Osteopenia, Primary am... |
ORPHA:99228 |
Monosomy X |
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Secondary amenorrhea, Premature ovarian insufficiency, Female infertility, Osteopenia, Primary am... |
ORPHA:99226 |
Ciliary Dyskinesia, Primary, 1 |
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Male infertility |
OMIM:244400 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
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Decreased fertility, Irregular menstruation, Male hypogonadism, Male infertility, Primary amenorrhea |
ORPHA:90793 |
46,Xy Partial Gonadal Dysgenesis |
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Decreased fertility in females, Azoospermia, Male infertility, Hypergonadotropic hypogonadism, Pr... |
ORPHA:251510 |
Igg4-Related Submandibular Gland Disease |
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Retroperitoneal fibrosis, Enlarged lacrimal glands, Cholangitis, Abnormality of the submandibular... |
ORPHA:449432 |
Cushing Disease |
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Recurrent cutaneous fungal infections, Decreased eosinophil count, Lymphopenia, Leukocytosis, Acne |
ORPHA:96253 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Recurrent cutaneous fungal infections, Decreased eosinophil count, Lymphopenia, Leukocytosis, Acne |
ORPHA:99889 |