Partial Chromosome Y Deletion |
|
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia, Cryptorchi... |
ORPHA:1646 |
Spermatogenic Failure 5 |
|
Functional abnormality of male internal genitalia, Male infertility |
OMIM:243060 |
Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Non-obstructive a... |
OMIM:619528 |
Spermatogenic Failure 46 |
|
Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... |
OMIM:619095 |
Spermatogenic Failure 56 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... |
OMIM:619515 |
Spermatogenic Failure 43 |
|
Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in... |
OMIM:618751 |
Spermatogenic Failure 45 |
|
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... |
OMIM:619094 |
Spermatogenic Failure 49 |
|
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... |
OMIM:619144 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Azoospermia |
OMIM:619145 |
Spermatogenic Failure, X-Linked, 3 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... |
OMIM:301059 |
Spermatogenic Failure 54 |
|
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... |
OMIM:619379 |
Isochromosomy Yq |
|
Azoospermia, Varicocele, Ambiguous genitalia, Male infertility, Gonadal tissue inappropriate for ... |
ORPHA:98798 |
Isochromosomy Yp |
|
Ambiguous genitalia, Male infertility, Decreased testicular size, Azoospermia |
ORPHA:98797 |
Spermatogenic Failure 42 |
|
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... |
OMIM:618745 |
Spermatogenic Failure 39 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... |
OMIM:618643 |
Spermatogenic Failure 58 |
|
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Reduced progressive sperm motility, ... |
OMIM:619585 |
Spermatogenic Failure 40 |
|
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... |
OMIM:618664 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Abnormality of male internal genitalia, Male infertility, Bilateral cryptorchidism |
OMIM:261550 |
Deafness-Infertility Syndrome |
|
Abnormal spermatogenesis, Male infertility, Reduced sperm motility |
OMIM:611102 |
Spermatogenic Failure 47 |
|
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella |
OMIM:619102 |
Immunodeficiency 32A |
|
Lymphadenopathy |
OMIM:614893 |
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 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
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 41 |
|
Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella |
OMIM:618670 |
Male Infertility Due To Acephalic Spermatozoa |
|
Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... |
ORPHA:529970 |
Spermatogenic Failure 7 |
|
Oligospermia, Male infertility, Immotile sperm, Reduced sperm motility |
OMIM:612997 |
Spermatogenic Failure 48 |
|
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia |
OMIM:619108 |
Spermatogenic Failure 11 |
|
Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility |
OMIM:615081 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Mediastinal lymphadenopathy, Follicular hyperplasia |
ORPHA:60026 |
Ring Chromosome Y Syndrome |
|
Hypospadias, Unilateral cryptorchidism, Bifid scrotum, Streak ovary, Azoospermia, Abnormality of ... |
ORPHA:261529 |
Squamous Cell Carcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99977 |
Spermatogenic Failure 1 |
|
Oligospermia, Male infertility, Cryptozoospermia |
OMIM:258150 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Absence of lymph node germinal center |
OMIM:235550 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy |
OMIM:616126 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Tapered sperm head, Male infertility |
OMIM:619258 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Infertility, Spontaneous abortion, Abnormality of the lymph nodes |
OMIM:136580 |
Reticuloendotheliosis, X-Linked |
|
Lymphadenopathy, Hepatosplenomegaly |
OMIM:312500 |
Kerion Celsi |
|
Lymphadenopathy |
ORPHA:499 |
Spermatogenic Failure 38 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... |
OMIM:618433 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Spermatocele, Obstructive azoospermia, Male infertility |
OMIM:301060 |
Familial Male-Limited Precocious Puberty |
|
Oligospermia, Macroorchidism, Long penis, Male infertility, Precocious puberty |
ORPHA:3000 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive |
|
Lymphadenopathy, Splenomegaly |
OMIM:608971 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Lymphadenopathy, Splenomegaly |
OMIM:618495 |
Immunodeficiency 75 |
|
Lymphadenopathy, Hepatosplenomegaly, Follicular hyperplasia |
OMIM:619126 |
Adenocarcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99976 |
Spermatogenic Failure, X-Linked, 2 |
|
Testicular atrophy, Male infertility, Azoospermia |
OMIM:309120 |
Kimura Disease |
|
Lymphadenopathy, Abnormal salivary gland morphology, Follicular hyperplasia |
ORPHA:482 |
Carcinoma Of Esophagus |
|
Lymphadenopathy |
ORPHA:70482 |
Androgen Insensitivity Syndrome |
|
Aplasia/Hypoplasia of the fallopian tube, Aplasia/hypoplasia of the uterus, Abnormal morphology o... |
ORPHA:754 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Chronic noninfectious lymphadenopathy, Goiter, Nodular goiter, Abnormality of the lymph nodes |
ORPHA:97290 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Chronic noninfectious lymphadenopathy, Goiter, Nodular goiter, Abnormality of the lymph nodes |
ORPHA:319487 |
Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Male infertility, Azoospermia |
ORPHA:276183 |
Alpha-Heavy Chain Disease |
|
Lymphadenopathy, Premature ovarian insufficiency, Splenomegaly |
ORPHA:100025 |
Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Lymphadenopathy, Epididymitis |
OMIM:608106 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphadenopathy, Splenomegaly |
ORPHA:444463 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypospadias, Elevated circulating follicle stimulating hormone level, Urogenital sinus anomaly, M... |
ORPHA:251510 |
Burkitt Lymphoma |
|
Abnormality of the spleen, Abnormality of the ovary, Abnormality of the lymph nodes |
ORPHA:543 |
Mast Cell Sarcoma |
|
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly |
ORPHA:66661 |
Immunodeficiency 7 |
|
Lymphadenopathy |
OMIM:615387 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Lymphadenopathy, Recurrent tonsillitis, Splenomegaly |
OMIM:618852 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:86893 |
Partial Androgen Insensitivity Syndrome |
|
Hypospadias, Male sexual dysfunction, Aplasia of the uterus, Bifid scrotum, Fused labia majora, A... |
ORPHA:90797 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Lymphadenopathy |
OMIM:615895 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Lymphadenopathy |
OMIM:617772 |
Follicular Lymphoma |
|
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly |
ORPHA:545 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Hepatosplenomegaly, Generalized lymph... |
OMIM:615559 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility, Asplenia |
OMIM:618948 |
Hodgkin Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:98293 |
Immunodeficiency 55 |
|
Lymphadenopathy |
OMIM:617827 |
Immunodeficiency 64 |
|
Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Hepatosplenomegaly, Cervical lymphade... |
OMIM:618534 |
Complete Androgen Insensitivity Syndrome |
|
Aplasia of the uterus, Aplasia/Hypoplasia of the fallopian tube, Abnormal morphology of female in... |
ORPHA:99429 |
Granulomatous Slack Skin |
|
Abnormality of the lymph nodes |
ORPHA:33111 |
Mu-Heavy Chain Disease |
|
Lymphadenopathy, Splenomegaly |
ORPHA:100024 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly |
OMIM:300853 |
Lymphoproliferative Syndrome 3 |
|
Lymphadenopathy, Hepatosplenomegaly |
OMIM:618261 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Oligospermia, Lymphadenopathy, Abnormality of the lymph nodes, Hypogonadism, Abnormal testis morp... |
ORPHA:85450 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Lymphadenopathy, Splenomegaly |
OMIM:603552 |
Immunodeficiency 14A, Autosomal Dominant |
|
Lymphadenopathy, Splenomegaly |
OMIM:615513 |
Immunodeficiency, Common Variable, 2 |
|
Lymphadenopathy, Follicular hyperplasia, Splenomegaly |
OMIM:240500 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Lymphadenopathy |
OMIM:605258 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Fluctuating splenomegaly, Lymphadenopathy |
OMIM:619220 |
Immunodeficiency 72 With Autoinflammation |
|
Lymphadenopathy, Hepatosplenomegaly |
OMIM:618982 |
Classic Galactosemia |
|
Secondary amenorrhea, Oligomenorrhea, Male infertility, Primary amenorrhea, Premature ovarian ins... |
ORPHA:79239 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Lymphadenopathy, Hepatosplenomegaly, Splenomegaly |
OMIM:613101 |
Immunodeficiency 76 |
|
Lymphadenopathy, Splenomegaly |
OMIM:619164 |
Candidiasis, Familial, 2 |
|
Lymphadenopathy |
OMIM:212050 |
Rosaï-Dorfman Disease |
|
Lymphadenopathy |
ORPHA:158014 |
Immunodeficiency 27A |
|
Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric lymph node, Splenomegaly |
OMIM:209950 |
Congenital Bilateral Absence Of Vas Deferens |
|
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility |
ORPHA:48 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Hypospadias, Aplasia of the uterus, Precocious puberty in females, Bifid scrotum, Elevated circul... |
ORPHA:90793 |
47,Xyy Syndrome |
|
Oligospermia, Hypospadias, Macroorchidism, Azoospermia, Increased circulating gonadotropin level,... |
ORPHA:8 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Abnormal testis morphology, Abnormality of the lymphatic system, Abnormality of the lymph nodes |
ORPHA:54251 |
Immunodeficiency 52 |
|
Lymphadenopathy, Splenomegaly |
OMIM:617514 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Absent tonsils, Absence of lymph node germinal center |
ORPHA:277 |
Classic Mycosis Fungoides |
|
Lymphadenopathy, Splenomegaly |
ORPHA:2584 |
Roifman Syndrome |
|
Lymphadenopathy, Hypogonadotropic hypogonadism, Hepatosplenomegaly |
ORPHA:353298 |
Desmoplastic Small Round Cell Tumor |
|
Ovarian neoplasm, Mediastinal lymphadenopathy, Lymphadenopathy, Neoplasm of the pancreas, Testicu... |
ORPHA:83469 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Absence of lymph node germinal center |
OMIM:606843 |
Pfapa Syndrome |
|
Lymphadenopathy, Splenomegaly |
ORPHA:42642 |
Tularemia |
|
Lymphadenopathy, Abnormal nasopharyngeal adenoid morphology, Mediastinal lymphadenopathy, Cervica... |
ORPHA:3392 |
Ciliary Dyskinesia, Primary, 14 |
|
Polysplenia, Male infertility, Immotile sperm, Reduced sperm motility |
OMIM:613807 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatosplenomegaly, Abnormality of the lymph nodes, Splenomegaly |
OMIM:612840 |
Schnitzler Syndrome |
|
Lymphadenopathy, Splenomegaly |
ORPHA:37748 |
Ciliary Dyskinesia, Primary, 45 |
|
Male infertility |
OMIM:618801 |
Congenital Toxoplasmosis |
|
Lymphadenopathy |
ORPHA:858 |
Immunodeficiency, Common Variable, 1 |
|
Lymphadenopathy, Splenomegaly |
OMIM:607594 |
Immunodeficiency 54 |
|
Lymphadenopathy, Adrenocorticotropic hormone excess, Splenomegaly |
OMIM:609981 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Lymphadenopathy |
OMIM:618048 |
Caspase 8 Deficiency |
|
Lymphadenopathy, Splenomegaly |
OMIM:607271 |
Lymphatic Filariasis |
|
Lymphangiectasis, Vaginal hydrocele, Lymphadenopathy, Lymphadenitis, Abnormality of the lymphatic... |
ORPHA:2035 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Absence of lymph node germinal center |
OMIM:608184 |
Acquired Hypertrichosis Lanuginosa |
|
Lymphadenopathy, Ovarian neoplasm |
ORPHA:2221 |
Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Immotile sperm |
OMIM:617091 |
Classic Hodgkin Lymphoma |
|
Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly |
ORPHA:391 |
Pleural Mesothelioma |
|
Lymphadenopathy |
ORPHA:50251 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Hypospadias, Bifid scrotum, Ambiguous genitalia, female, Urogenital sinus anomaly, Ambiguous geni... |
ORPHA:1772 |
Immunodeficiency 27B |
|
Generalized lymphadenopathy |
OMIM:615978 |
Roifman Syndrome |
|
Lymphadenopathy, Splenomegaly |
OMIM:616651 |
Thymic Neuroendocrine Tumor |
|
Mediastinal lymphadenopathy, Neoplasm of the thymus, Pituitary adenoma, Primary hyperparathyroidi... |
ORPHA:97289 |
Ciliary Dyskinesia, Primary, 9 |
|
Male infertility |
OMIM:612444 |
Indolent Systemic Mastocytosis |
|
Lymphadenopathy, Splenomegaly |
ORPHA:98848 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Lymphadenopathy, Splenomegaly |
OMIM:611762 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Immotile sperm |
OMIM:614874 |
Heme Oxygenase 1 Deficiency |
|
Lymphadenopathy, Cervical lymphadenopathy, Asplenia |
OMIM:614034 |
Lymphoproliferative Syndrome 2 |
|
Lymphadenopathy, Hepatosplenomegaly, Splenomegaly |
OMIM:615122 |
Pseudomyxoma Peritonei |
|
Lymphadenopathy |
ORPHA:26790 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Lymphadenopathy, Splenomegaly |
OMIM:619375 |
Rhabdoid Tumor |
|
Lymphadenopathy |
ORPHA:69077 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Lymphadenopathy, Lymphadenitis, Hepatosplenomegaly, Abnormality of the lymph nodes |
ORPHA:911 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Parathyroid agenesis, Congenital hypoparathyroidism, Male infertility |
ORPHA:2239 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Lymphadenopathy, Splenomegaly |
OMIM:150550 |
Omenn Syndrome |
|
Lymphadenopathy, Hypoplasia of the thymus, Splenomegaly |
OMIM:603554 |
Fish-Eye Disease |
|
Lymphadenopathy, Splenomegaly |
ORPHA:79292 |
Medullary Thyroid Carcinoma |
|
Lymphadenopathy, Primary hyperparathyroidism, Nodular goiter, Pheochromocytoma |
ORPHA:1332 |
Aromatase Deficiency |
|
Macroorchidism, postpubertal, Ambiguous genitalia, female, Female infertility, Male infertility, ... |
ORPHA:91 |
Cinca Syndrome |
|
Lymphadenopathy, Hepatosplenomegaly |
OMIM:607115 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Lymphadenopathy, Splenomegaly |
OMIM:308240 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Lymphadenopathy, Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Splenomegaly |
OMIM:603909 |
Cold Agglutinin Disease |
|
Lymphadenopathy, Splenomegaly |
ORPHA:56425 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly |
ORPHA:3226 |
Mycosis Fungoides |
|
Lymphadenopathy |
OMIM:254400 |
Anaplastic Thyroid Carcinoma |
|
Lymphadenopathy, Nodular goiter, Goiter |
ORPHA:142 |
Thyroid Lymphoma |
|
Lymphadenopathy, Goiter |
ORPHA:97285 |
Leishmaniasis |
|
Lymphadenopathy, Splenomegaly |
ORPHA:507 |
Lig4 Syndrome |
|
Lymphadenopathy, Cryptorchidism, Hypoplasia of penis |
ORPHA:99812 |
Immunodeficiency 91 And Hyperinflammation |
|
Lymphadenopathy, Hepatosplenomegaly |
OMIM:619644 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Lymphadenopathy, Lymphadenitis, Splenomegaly, Hepatosplenomegaly, Recurrent tonsillitis |
OMIM:618935 |
Boutonneuse Fever |
|
Lymphadenopathy, Cervical lymphadenopathy |
ORPHA:83313 |
Griscelli Syndrome |
|
Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly |
ORPHA:381 |
Griscelli Syndrome Type 2 |
|
Lymphadenopathy, Splenomegaly |
ORPHA:79477 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Lymphadenopathy, Splenomegaly |
ORPHA:85414 |
Immunodeficiency 10 |
|
Lymphadenopathy |
OMIM:612783 |
H Syndrome |
|
Amenorrhea, Azoospermia, Lymphadenopathy, Hypogonadism, Hepatosplenomegaly, Micropenis, Decreased... |
ORPHA:168569 |
Primary Ciliary Dyskinesia |
|
Asplenia, Abnormal sperm motility, Female infertility, Male infertility, Polysplenia |
ORPHA:244 |
Primary Myelofibrosis |
|
Lymphadenopathy, Hepatosplenomegaly, Splenomegaly |
ORPHA:824 |
Cyclic Neutropenia |
|
Lymphadenopathy, Cervical lymphadenopathy, Recurrent tonsillitis |
ORPHA:2686 |
Sézary Syndrome |
|
Lymphadenopathy, Splenomegaly |
ORPHA:3162 |
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Lymphadenopathy |
ORPHA:69126 |
Aggressive Systemic Mastocytosis |
|
Lymphadenopathy, Hepatosplenomegaly, Hypersplenism |
ORPHA:98850 |
Scrub Typhus |
|
Lymphadenopathy, Splenomegaly |
ORPHA:83317 |
Cinca Syndrome |
|
Lymphadenopathy, Splenomegaly |
ORPHA:1451 |
American Trypanosomiasis |
|
Lymphadenopathy, Splenomegaly |
ORPHA:3386 |
Felty Syndrome |
|
Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly |
ORPHA:47612 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Pancreatic hypoplasia, Azoospermia, Lymphadenopathy, Splenomegaly, Hepatosplenomegaly, Micropenis... |
OMIM:602782 |
Hypocomplementemic Urticarial Vasculitis |
|
Lymphadenopathy, Splenomegaly |
ORPHA:36412 |
Diffuse Cutaneous Mastocytosis |
|
Lymphadenopathy, Abnormality of the spleen |
ORPHA:79456 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Lymphadenopathy, Splenomegaly |
OMIM:616100 |
Poems Syndrome |
|
Hypogonadism, Erectile dysfunction, Lymphadenopathy, Increased circulating prolactin concentration |
ORPHA:2905 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Lymphadenopathy |
ORPHA:411703 |
Omenn Syndrome |
|
Lymphadenopathy, Splenomegaly |
ORPHA:39041 |
Niemann-Pick Disease, Type A |
|
Lymphadenopathy, Splenomegaly |
OMIM:257200 |
Legionnaires Disease |
|
Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly |
ORPHA:549 |
Nephroblastoma |
|
Lymphadenopathy |
ORPHA:654 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Lymphadenopathy |
ORPHA:424019 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Lymphadenopathy, Hepatosplenomegaly |
ORPHA:169154 |
Mixed Connective Tissue Disease |
|
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly |
ORPHA:809 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Lymphadenopathy, Hepatosplenomegaly, Enlarged tonsils |
OMIM:606367 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Enlarged tonsils, Absence of lymph node germinal center, Splenomegaly |
OMIM:308230 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Lymphadenopathy, Generalized lymphadenopathy, Splenomegaly |
OMIM:614700 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Lymphadenopathy, Splenomegaly |
ORPHA:169090 |
Macrophage Activation Syndrome |
|
Lymphadenopathy, Splenomegaly |
ORPHA:158061 |
Castleman Disease |
|
Lymphadenopathy, Generalized lymphadenopathy, Mediastinal lymphadenopathy, Follicular hyperplasia |
ORPHA:160 |
Lymphoproliferative Syndrome 1 |
|
Lymphadenopathy, Splenomegaly |
OMIM:613011 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Lymphadenopathy, Splenomegaly |
OMIM:619183 |
Meige Disease |
|
Absence of lymph node germinal center, Lymph node hypoplasia |
ORPHA:90186 |
Ciliary Dyskinesia, Primary, 1 |
|
Male infertility, Asplenia |
OMIM:244400 |
Igg4-Related Submandibular Gland Disease |
|
Abnormal salivary gland morphology, Prostatitis, Lymphadenopathy, Abnormal pancreas morphology, A... |
ORPHA:449432 |
Acute Promyelocytic Leukemia |
|
Lymphadenopathy, Metrorrhagia |
ORPHA:520 |
Familial Hemophagocytic Lymphohistiocytosis |
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Lymphadenopathy, Splenomegaly |
ORPHA:540 |
Mevalonic Aciduria |
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Lymphadenopathy, Hepatosplenomegaly, Fluctuating splenomegaly |
OMIM:610377 |
Hyperimmunoglobulinemia D With Periodic Fever |
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Lymphadenopathy |
ORPHA:343 |
Acute Interstitial Pneumonia |
|
Lymphadenopathy |
ORPHA:79126 |
Melkersson-Rosenthal Syndrome |
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Lymphadenopathy |
ORPHA:2483 |
Pancreatoblastoma |
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Pancreatic calcification, Abnormality of the lymph nodes |
ORPHA:677 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
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Male infertility |
OMIM:619607 |
Familial Pancreatic Carcinoma |
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Lymphadenopathy, Hepatosplenomegaly, Ovarian carcinoma, Pancreatic adenocarcinoma |
ORPHA:1333 |
Pediatric Systemic Lupus Erythematosus |
|
Lymphadenopathy |
ORPHA:93552 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Lymphadenopathy |
OMIM:304790 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Lymphadenopathy, Hepatosplenomegaly, Splenomegaly |
OMIM:603553 |
Kikuchi-Fujimoto Disease |
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Lymphadenopathy, Abnormality of the lymph nodes, Splenomegaly, Generalized lymphadenopathy, Enlar... |
ORPHA:50918 |
Gamma-Heavy Chain Disease |
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Lymphadenopathy, Splenomegaly |
ORPHA:100026 |
Fanconi Anemia, Complementation Group A |
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Cryptorchidism, Male infertility, Hypergonadotropic hypogonadism |
OMIM:227650 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
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Lymphadenopathy, Splenomegaly |
OMIM:267700 |
Malakoplakia |
|
Orchitis, Abnormality of the menstrual cycle, Prostate neoplasm, Follicular hyperplasia |
ORPHA:556 |
Hyper-Igd Syndrome |
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Lymphadenopathy, Lymphadenitis, Hepatosplenomegaly, Splenomegaly |
OMIM:260920 |
Farber Disease |
|
Lymphadenopathy, Hepatosplenomegaly |
ORPHA:333 |
Klatskin Tumor |
|
Lymphadenopathy |
ORPHA:99978 |
Coccidioidomycosis |
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Abnormal sperm morphology, Abnormality of the spleen, Mediastinal lymphadenopathy, Abnormality of... |
ORPHA:228123 |
Aregenerative Anemia |
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Lymphadenopathy, Bone marrow hypocellularity |
ORPHA:101096 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
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Lymphadenopathy, Splenomegaly, Accessory spleen, Primary amenorrhea, Polysplenia |
OMIM:619418 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
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Hepatosplenomegaly, Absence of lymph node germinal center |
ORPHA:79124 |
Graft Versus Host Disease |
|
Lymphadenopathy, Hepatosplenomegaly |
ORPHA:39812 |
Pulmonary Capillary Hemangiomatosis |
|
Lymphadenopathy, Mediastinal lymphadenopathy |
ORPHA:199241 |
Carney Triad |
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Lymphadenopathy, Pheochromocytoma, Mediastinal lymphadenopathy |
ORPHA:139411 |
Chediak-Higashi Syndrome |
|
Lymphadenopathy, Splenomegaly |
OMIM:214500 |
Autoimmune Lymphoproliferative Syndrome |
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Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly, Hypersplenism, Chronic noninfectious ... |
ORPHA:3261 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
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Lymphadenopathy, Splenomegaly |
ORPHA:98849 |
Bloom Syndrome |
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Oligospermia, Azoospermia, Male infertility, Premature ovarian insufficiency, Recurrent tonsillitis |
ORPHA:125 |
Waldenström Macroglobulinemia |
|
Lymphadenopathy, Splenomegaly |
ORPHA:33226 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Lymphadenopathy, Splenomegaly |
OMIM:617591 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Lymphadenopathy |
ORPHA:139402 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
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Lymphadenopathy, Orchitis, Splenomegaly |
ORPHA:32960 |
Q Fever |
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Lymphadenopathy, Hepatosplenomegaly, Splenomegaly |
ORPHA:781 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Lymphadenopathy, Lymphadenitis, Splenomegaly |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Lymphadenopathy, Lymphadenitis, Splenomegaly |
OMIM:233710 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Lymphadenopathy |
OMIM:617099 |
Selective Igm Deficiency |
|
Lymphadenopathy, Lymphadenitis |
ORPHA:331235 |
Familial Mediterranean Fever |
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Lymphadenopathy, Orchitis, Splenomegaly |
ORPHA:342 |
Lymphangioleiomyomatosis |
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Lymphadenopathy, Pulmonary lymphangiomyomatosis, Abnormality of the lymphatic system, Abnormal mo... |
ORPHA:538 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
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Lymphadenopathy, Lymphadenitis, Splenomegaly |
OMIM:233690 |
Granulomatous Disease, Chronic, X-Linked |
|
Lymphadenopathy, Lymphadenitis, Splenomegaly |
OMIM:306400 |
Thymic Aplasia |
|
Lymphadenopathy, Aplasia of the thymus |
ORPHA:83471 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Lymphadenopathy |
OMIM:617718 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Lymphadenopathy |
OMIM:607944 |
Igg4-Related Ophthalmic Disease |
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Abnormality of the anterior pituitary, Prostatitis, Lymphadenopathy, Sialadenitis, Orchitis, Enla... |
ORPHA:449563 |
Brucellosis |
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Lymphadenopathy, Epididymitis, Spontaneous abortion, Splenomegaly, Hypersplenism, Orchitis |
ORPHA:1304 |
Igg4-Related Kidney Disease |
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Abnormality of the anterior pituitary, Prostatitis, Lymphadenopathy, Lymphadenitis, Urethritis, S... |
ORPHA:449395 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
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Lymphadenopathy, Hepatosplenomegaly, Bone marrow hypocellularity, Splenomegaly |
OMIM:615688 |
Chédiak-Higashi Syndrome |
|
Lymphadenopathy, Hepatosplenomegaly, Splenomegaly |
ORPHA:167 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Lymphadenopathy, Splenomegaly |
ORPHA:37042 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Adrenal hyperplasia, Secondary amenorrhea, Oligomenorrhea, Amenorrhea, Neoplasm of the thymus, Pa... |
ORPHA:99889 |
Hennekam Syndrome |
|
Lymphadenopathy, Lymphangioma, Pulmonary lymphangiectasia, Splenomegaly |
ORPHA:2136 |
Malt Lymphoma |
|
Lymphadenopathy, Mediastinal lymphadenopathy |
ORPHA:52417 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
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Lymphadenopathy, Epididymitis, Parotitis, Splenomegaly, Elevated circulating thyroid-stimulating ... |
OMIM:256040 |
X-Linked Lymphoproliferative Disease |
|
Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly, Hepatosplenomegaly, Cervical lymphade... |
ORPHA:2442 |
Common Variable Immunodeficiency |
|
Lymphadenopathy, Splenomegaly |
ORPHA:1572 |
Igg4-Related Dacryoadenitis And Sialadenitis |
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Abnormal salivary gland morphology, Lymphadenopathy, Nodular goiter, Abnormality of the submandib... |
ORPHA:79078 |
Behçet Disease |
|
Lymphadenopathy, Orchitis, Splenomegaly |
ORPHA:117 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
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Lymphadenopathy, Hepatosplenomegaly |
ORPHA:85408 |
African Trypanosomiasis |
|
Abnormal prolactin level, Infertility, Lymphadenopathy, Abnormality of the menstrual cycle, Spont... |
ORPHA:3385 |
Duodenal Neuroendocrine Tumor |
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Lymphadenopathy, Elevated circulating growth hormone concentration, Insulinoma |
ORPHA:100076 |
Multiple Myeloma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:29073 |
Crimean-Congo Hemorrhagic Fever |
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Lymphadenopathy, Epididymitis, Parotitis, Splenomegaly, Orchitis |
ORPHA:99827 |
Cystinosis, Nephropathic |
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Male hypogonadism, Male infertility, Splenomegaly |
OMIM:219800 |
Sarcoidosis |
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Lymphadenopathy, Abnormal reproductive system morphology, Abnormality of the lymph nodes, Parotit... |
ORPHA:797 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Absent peripheral lymph nodes in presence of infection |
OMIM:600802 |
Ileal Neuroendocrine Tumor |
|
Lymphadenopathy |
ORPHA:100078 |
Jejunal Neuroendocrine Tumor |
|
Lymphadenopathy |
ORPHA:100077 |
Chikungunya |
|
Lymphadenopathy, Cervical lymphadenopathy |
ORPHA:324625 |
Primary Sjögren Syndrome |
|
Lymphadenopathy, Vaginal dryness, Parotitis |
ORPHA:289390 |
Marburg Hemorrhagic Fever |
|
Lymphadenopathy, Orchitis |
ORPHA:99826 |
Noonan Syndrome 1 |
|
Hypogonadism, Cryptorchidism, Male infertility, Hypospadias |
OMIM:163950 |
Autosomal Recessive Malignant Osteopetrosis |
|
Lymphadenopathy, Splenomegaly |
ORPHA:667 |
Cystic Fibrosis |
|
Hepatosplenomegaly, Male infertility |
OMIM:219700 |
Blau Syndrome |
|
Lymphadenopathy, Abnormal salivary gland morphology, Splenomegaly |
ORPHA:90340 |
Immunodeficiency 82 With Systemic Inflammation |
|
Lymphadenopathy, Anoperineal fistula, Follicular hyperplasia, Splenomegaly |
OMIM:619381 |
Adenocarcinoma Of The Anal Canal |
|
Lymphadenopathy |
ORPHA:424016 |
Leptospirosis |
|
Lymphadenopathy |
ORPHA:509 |