Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormal lymph node morphology |
OMIM:136580 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
Mantle Cell Lymphoma |
|
Splenomegaly, Anorexia, Lymphadenopathy |
ORPHA:52416 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy |
OMIM:616126 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Absence of lymph node germinal center |
OMIM:235550 |
Squamous Cell Carcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99977 |
Hereditary Progressive Mucinous Histiocytosis |
|
Lymphadenopathy |
ORPHA:158025 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Mediastinal lymphadenopathy, Follicular hyperplasia |
ORPHA:60026 |
Reticuloendotheliosis, X-Linked |
|
Hepatosplenomegaly, Lymphadenopathy |
OMIM:312500 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
Kerion Celsi |
|
Lymphadenopathy |
ORPHA:499 |
Immunodeficiency 75 With Lymphoproliferation |
|
Hepatosplenomegaly, Lymphadenopathy, Follicular hyperplasia |
OMIM:619126 |
Adenocarcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99976 |
Mu-Heavy Chain Disease |
|
Splenomegaly, Osteoporosis, Osteolysis, Lymphadenopathy |
ORPHA:100024 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Splenomegaly, Anorexia, Lymphadenopathy |
ORPHA:86893 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Broad-based gait, Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, I... |
ORPHA:3077 |
Classic Hodgkin Lymphoma |
|
Ataxia, Anorexia, Splenomegaly, Osteolysis, Lymphadenopathy, Bone marrow hypocellularity |
ORPHA:391 |
Immunodeficiency 104 |
|
Splenomegaly, Lymphadenopathy |
OMIM:608971 |
Laryngeal Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Anorexia, Oral-pharyngeal dysphagia |
ORPHA:100083 |
Rosaï-Dorfman Disease |
|
Osteolysis, Lymphadenopathy |
ORPHA:158014 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Epididymitis, Lymphadenopathy |
OMIM:608106 |
Kimura Disease |
|
Lymphadenopathy, Follicular hyperplasia |
ORPHA:482 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior |
ORPHA:208441 |
Burkitt Lymphoma |
|
Abnormality of the spleen, Abnormality of the ovary, Abnormal lymph node morphology |
ORPHA:543 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Lymphadenopathy |
OMIM:617772 |
Mast Cell Sarcoma |
|
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:66661 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Splenomegaly, Lymphadenopathy |
ORPHA:444463 |
Follicular Lymphoma |
|
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:545 |
Immunodeficiency 32A |
|
Lymphadenitis, Lymphadenopathy |
OMIM:614893 |
Lymphoproliferative Syndrome 3 |
|
Hepatosplenomegaly, Lymphadenopathy |
OMIM:618261 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology |
ORPHA:97290 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Splenomegaly, Abnormal lymph node morphology, Osteopetrosis, Hepatosplenomegaly |
OMIM:612840 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology |
ORPHA:319487 |
Niemann-Pick Disease, Type A |
|
Inability to walk, Splenomegaly, Osteoporosis, Lymphadenopathy, Athetosis, Irritability |
OMIM:257200 |
Granulomatous Slack Skin |
|
Abnormal lymph node morphology |
ORPHA:33111 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Lymphadenopathy |
OMIM:615513 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Lymphadenopathy, Fluctuating splenomegaly |
OMIM:619220 |
Schnitzler Syndrome |
|
Splenomegaly, Increased bone mineral density, Lymphadenopathy |
ORPHA:37748 |
Immunodeficiency 27A |
|
Anorexia, Splenomegaly, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosplenomegaly |
OMIM:209950 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy |
OMIM:619164 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Generalized lymphadenopathy, Aplasia of the thymus, Genital ulcers, Splenomegaly, Lymph node hypo... |
OMIM:602450 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Hepatosplenomegaly, Lymphadenopathy |
OMIM:618982 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Lymphadenopathy |
OMIM:605258 |
Alpha-Heavy Chain Disease |
|
Splenomegaly, Lymphadenopathy |
ORPHA:100025 |
Pleural Mesothelioma |
|
Dysphagia, Lymphadenopathy |
ORPHA:50251 |
Generalized Eruptive Histiocytosis |
|
Lymphadenopathy |
ORPHA:157991 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Testicular dysgenesis, Hypoplasia of the ... |
ORPHA:168563 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
OMIM:300853 |
Immunodeficiency 52 |
|
Splenomegaly, Lymphadenopathy |
OMIM:617514 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Absence of lymph node germinal center |
OMIM:606843 |
Immunodeficiency, Common Variable, 2 |
|
Splenomegaly, Follicular hyperplasia, Lymphadenopathy |
OMIM:240500 |
Indolent Systemic Mastocytosis |
|
Splenomegaly, Osteoporosis, Lymphadenopathy |
ORPHA:98848 |
Immunodeficiency 64 With Lymphoproliferation |
|
Splenomegaly, Mediastinal lymphadenopathy, Cervical lymphadenopathy, Lymphadenopathy, Hepatosplen... |
OMIM:618534 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Generalized lymphadenopathy, Follicular hyperplasia, Mediastinal lymphadenopathy, Splenomegaly, L... |
OMIM:615559 |
46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Hypoplasia of the uterus, Sex reversal, Gonadal dysgenesis, Exaggerated ... |
OMIM:612965 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Splenomegaly, Lymphadenopathy |
OMIM:603552 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Lymphadenopathy, Follicular hyperplasia |
OMIM:619846 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly |
OMIM:613101 |
Pfapa Syndrome |
|
Splenomegaly, Lymphadenopathy |
ORPHA:42642 |
Immunodeficiency 27B |
|
Generalized lymphadenopathy |
OMIM:615978 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Cervical lymphadenopathy |
OMIM:618987 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
Leydig Cell Hypoplasia |
|
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... |
ORPHA:755 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Lymphadenopathy |
OMIM:212050 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Absence of lymph node germinal center |
OMIM:608184 |
Rhabdoid Tumor |
|
Irritability, Lymphadenopathy |
ORPHA:69077 |
46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Vanishing testis, Aplasia of the uterus, Gonadal dysgenesis with fem... |
OMIM:273250 |
Caspase 8 Deficiency |
|
Splenomegaly, Lymphadenopathy |
OMIM:607271 |
Classic Mycosis Fungoides |
|
Splenomegaly, Lymphadenopathy |
ORPHA:2584 |
Fish-Eye Disease |
|
Splenomegaly, Lymphadenopathy |
ORPHA:79292 |
Acquired Hypertrichosis Lanuginosa |
|
Ovarian neoplasm, Lymphadenopathy |
ORPHA:2221 |
Roifman Syndrome |
|
Delayed proximal femoral epiphyseal ossification, Hypogonadotropic hypogonadism, Lymphadenopathy,... |
ORPHA:353298 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Splenomegaly, Lymphadenopathy |
OMIM:611762 |
Immunodeficiency 109 With Lymphoproliferation |
|
Splenomegaly, Generalized lymphadenopathy |
OMIM:620282 |
Desmoplastic Small Round Cell Tumor |
|
Mediastinal lymphadenopathy, Ovarian neoplasm, Testicular neoplasm, Lymphadenopathy |
ORPHA:83469 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Osteopenia, Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Azoospermia,... |
OMIM:614837 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Absent tonsils, Absence of lymph node germinal center |
ORPHA:277 |
Activated Pi3K-Delta Syndrome |
|
Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
ORPHA:397596 |
Tularemia |
|
Abnormal nasopharyngeal adenoid morphology, Cervical lymphadenopathy, Mediastinal lymphadenopathy... |
ORPHA:3392 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Abnormality of the lymphatic system, Abnormal testis morphology, Abnormal lymph node morphology |
ORPHA:54251 |
Mycosis Fungoides |
|
Lymphadenopathy |
OMIM:254400 |
Gamma-Heavy Chain Disease |
|
Splenomegaly, Osteolysis, Dysphagia, Lymphadenopathy |
ORPHA:100026 |
Congenital Toxoplasmosis |
|
Lymphadenopathy |
ORPHA:858 |
Aggressive Systemic Mastocytosis |
|
Anorexia, Hypersplenism, Osteoporosis, Osteolysis, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:98850 |
Immunodeficiency 105 |
|
Hepatosplenomegaly, Absence of lymph node germinal center |
OMIM:619924 |
Pseudomyxoma Peritonei |
|
Lymphadenopathy |
ORPHA:26790 |
Thyroid Lymphoma |
|
Dysphagia, Lymphadenopathy |
ORPHA:97285 |
Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Bilateral cryptorchidism, P... |
ORPHA:90797 |
Complete Androgen Insensitivity Syndrome |
|
Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidism, Blind vagina, ... |
ORPHA:99429 |
Leishmaniasis |
|
Splenomegaly, Anorexia, Lymphadenopathy |
ORPHA:507 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Splenomegaly, Lymphadenopathy |
OMIM:618495 |
Immunodeficiency 54 |
|
Splenomegaly, Lymphadenopathy |
OMIM:609981 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Splenomegaly, Lymphadenopathy |
OMIM:150550 |
Immunodeficiency, Common Variable, 1 |
|
Splenomegaly, Lymphadenopathy |
OMIM:607594 |
Perrault Syndrome 4 |
|
Osteoporosis, Gait ataxia, Hypoplasia of the uterus, Bicornuate uterus, Hypoplasia of the ovary |
OMIM:615300 |
Scrub Typhus |
|
Splenomegaly, Lethargy, Lymphadenopathy |
ORPHA:83317 |
Cold Agglutinin Disease |
|
Splenomegaly, Lymphadenopathy |
ORPHA:56425 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Splenomegaly, Lymphadenopathy |
OMIM:619375 |
Griscelli Syndrome |
|
Splenomegaly, Ataxia, Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:381 |
46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... |
OMIM:233420 |
Diethylstilbestrol Syndrome |
|
Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... |
ORPHA:1916 |
Heme Oxygenase 1 Deficiency |
|
Asplenia, Cervical lymphadenopathy, Lymphadenopathy |
OMIM:614034 |
Meige Disease |
|
Lymph node hypoplasia, Absence of lymph node germinal center |
ORPHA:90186 |
Lymphoproliferative Syndrome 2 |
|
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly |
OMIM:615122 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Splenomegaly, Follicular hyperplasia |
OMIM:614470 |
Purine Nucleoside Phosphorylase Deficiency |
|
Splenomegaly, Ataxia, Lymph node hypoplasia |
OMIM:613179 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Restlessness, Abnormal fear-induced behavior, Depression, Agitation, Difficulty walking |
ORPHA:100924 |
Middle Ear Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy |
ORPHA:100084 |
Medullary Thyroid Carcinoma |
|
Dysphagia, Lymphadenopathy |
ORPHA:1332 |
Immunodeficiency 7 |
|
Splenomegaly, Lymphadenopathy |
OMIM:615387 |
Roifman Syndrome |
|
Splenomegaly, Lymphadenopathy |
OMIM:616651 |
Joint Contractures, Osteochondromas, And B-Cell Lymphoma |
|
Generalized lymphadenopathy, Reduced bone mineral density |
OMIM:620232 |
Anaplastic Thyroid Carcinoma |
|
Dysphagia, Lymphadenopathy |
ORPHA:142 |
Cinca Syndrome |
|
Lymphadenopathy, Hepatosplenomegaly |
OMIM:607115 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Lymphadenitis, Abnormal lymph node morphology, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:911 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Splenomegaly, Lymphadenopathy |
ORPHA:85414 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Myelofibrosis, Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy |
OMIM:301078 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Osteopenia, Absent peripheral lymph nodes in presence of infection |
ORPHA:98813 |
Primary Myelofibrosis |
|
Splenomegaly, Lymphadenopathy, Anorexia, Hepatosplenomegaly |
ORPHA:824 |
Griscelli Syndrome Type 2 |
|
Splenomegaly, Lymphadenopathy |
ORPHA:79477 |
Thymic Neuroendocrine Tumor |
|
Neoplasm of the thymus, Mediastinal lymphadenopathy, Osteopenia, Chronic noninfectious lymphadeno... |
ORPHA:97289 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Primary testicular failure, Abnormal lymph node morphology, Lymphadenopathy, Hepatosplenomegaly, ... |
ORPHA:85450 |
Aregenerative Anemia |
|
Depression, Emotional lability, Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:101096 |
Immunodeficiency 10 |
|
Lymphadenopathy |
OMIM:612783 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:3226 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Lymphadenopathy, Hepatosplenomegaly |
OMIM:619750 |
Legionnaires Disease |
|
Ataxia, Anorexia, Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity |
ORPHA:549 |
46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... |
OMIM:278850 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Lymphadenopathy, Hepatosplenomegaly |
OMIM:618935 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Lymph node hypoplasia, Absent tonsils |
ORPHA:276 |
Cutaneous Mastocytoma |
|
Lymphadenopathy |
ORPHA:79455 |
Autoimmune Lymphoproliferative Syndrome |
|
Splenomegaly, Chronic noninfectious lymphadenopathy, Follicular hyperplasia |
OMIM:601859 |
Cinca Syndrome |
|
Reduced bone mineral density, Splenomegaly, Lymphadenopathy |
ORPHA:1451 |
Felty Syndrome |
|
Splenomegaly, Osteolysis, Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:47612 |
Castleman Disease |
|
Myelofibrosis, Generalized lymphadenopathy, Follicular hyperplasia, Mediastinal lymphadenopathy, ... |
ORPHA:160 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Splenomegaly, Follicular hyperplasia, Chronic noninfectious lymphadenopathy, Lymphadenopathy |
OMIM:603909 |
Boutonneuse Fever |
|
Cervical lymphadenopathy, Lymphadenopathy |
ORPHA:83313 |
Mullerian Aplasia And Hyperandrogenism |
|
Aplasia of the fallopian tube, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the... |
OMIM:158330 |
Papa Syndrome |
|
Lymphadenopathy |
ORPHA:69126 |
Nephroblastoma |
|
Lymphadenopathy |
ORPHA:654 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Splenomegaly, Irritability, Ataxia, Lymphadenopathy |
OMIM:267700 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Splenomegaly, Lymphadenopathy |
OMIM:308240 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Lymphadenopathy |
ORPHA:424019 |
Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Hypoplasia o... |
ORPHA:325124 |
Sézary Syndrome |
|
Splenomegaly, Lymphadenopathy |
ORPHA:3162 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Ataxia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Irritability |
OMIM:603553 |
Immunodeficiency 91 And Hyperinflammation |
|
Lymphadenopathy, Hepatosplenomegaly |
OMIM:619644 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Ataxia, Lymphadenopathy |
ORPHA:343 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Lymphadenopathy |
ORPHA:411703 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male pseudohermaphr... |
ORPHA:168558 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Lymphadenopathy |
OMIM:618048 |
Hypocomplementemic Urticarial Vasculitis |
|
Splenomegaly, Ataxia, Lymphadenopathy |
ORPHA:36412 |
Cyclic Neutropenia |
|
Cervical lymphadenopathy, Recurrent tonsillitis, Lymphadenopathy |
ORPHA:2686 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male pseudohermaphr... |
ORPHA:289548 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Splenomegaly, Lymphadenopathy |
OMIM:619183 |
Lymphatic Filariasis |
|
Orchitis, Lymphadenitis, Abnormality of the lymphatic system, Epididymitis, Vaginal hydrocele, Ly... |
ORPHA:2035 |
Mixed Connective Tissue Disease |
|
Splenomegaly, Mediastinal lymphadenopathy, Osteolysis, Lymphadenopathy |
ORPHA:809 |
American Trypanosomiasis |
|
Splenomegaly, Lymphadenopathy |
ORPHA:3386 |
Immunodeficiency 97 With Autoinflammation |
|
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Hepatosplenomegaly |
OMIM:619802 |
Poems Syndrome |
|
Sclerosis of hand bone, Sclerosis of foot bone, Lymphadenopathy, Sclerosis of skull base, Hypogon... |
ORPHA:2905 |
Lig4 Syndrome |
|
Cryptorchidism, Hypoplasia of penis, Lymphadenopathy |
ORPHA:99812 |
Familial Pancreatic Carcinoma |
|
Ovarian carcinoma, Lymphadenopathy, Anorexia, Hepatosplenomegaly |
ORPHA:1333 |
Mevalonic Aciduria |
|
Ataxia, Fluctuating splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Progressive cerebellar ataxia |
OMIM:610377 |
Renal And Mullerian Duct Hypoplasia |
|
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus |
OMIM:266810 |
Diffuse Cutaneous Mastocytosis |
|
Abnormality of the spleen, Lymphadenopathy |
ORPHA:79456 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Splenomegaly, Lymphadenopathy |
OMIM:616100 |
Melkersson-Rosenthal Syndrome |
|
Lymphadenopathy |
ORPHA:2483 |
Omenn Syndrome |
|
Splenomegaly, Lymphadenopathy |
ORPHA:39041 |
H Syndrome |
|
Osteolysis, Lymphadenopathy, Hepatosplenomegaly, Azoospermia, Hypogonadism, Micropenis, Decreased... |
ORPHA:168569 |
Lymphoproliferative Syndrome 1 |
|
Splenomegaly, Lymphadenopathy |
OMIM:613011 |
Acute Monoblastic/Monocytic Leukemia |
|
Cervical lymphadenopathy, Anorexia |
ORPHA:514 |
Acute Promyelocytic Leukemia |
|
Addictive alcohol use, Anorexia, Lymphadenopathy |
ORPHA:520 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Hypospadias, Precocious puberty in females, Bilateral cryptorchidism, Ovarian cyst... |
ORPHA:90793 |
Waldenström Macroglobulinemia |
|
Splenomegaly, Ataxia, Anorexia, Lymphadenopathy |
ORPHA:33226 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Enlarged polycystic ovarie... |
ORPHA:90796 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Splenomegaly, Lymphadenopathy |
ORPHA:169090 |
Klatskin Tumor |
|
Lymphadenopathy |
ORPHA:99978 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Lymphadenopathy, Hepatosplenomegaly |
ORPHA:169154 |
Omenn Syndrome |
|
Splenomegaly, Hypoplasia of the thymus, Lymphadenopathy |
OMIM:603554 |
Kikuchi-Fujimoto Disease |
|
Generalized lymphadenopathy, Ataxia, Anorexia, Splenomegaly, Cervical lymphadenopathy, Abnormal l... |
ORPHA:50918 |
Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Inappropriate behavior |
ORPHA:309246 |
Graft Versus Host Disease |
|
Irritability, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:39812 |
Agammaglobulinemia, X-Linked |
|
Lymph node hypoplasia, Epididymitis, Prostatitis |
OMIM:300755 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hypoplasia of the uterus, Aplasia of the vagina |
OMIM:277000 |
Carney Triad |
|
Mediastinal lymphadenopathy, Anorexia, Lymphadenopathy |
ORPHA:139411 |
Lumbar Syndrome |
|
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen... |
ORPHA:83628 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Enlarged tonsils, Lymphadenopathy, Hepatosplenomegaly |
OMIM:606367 |
Macrophage Activation Syndrome |
|
Splenomegaly, Lymphadenopathy |
ORPHA:158061 |
Chediak-Higashi Syndrome |
|
Splenomegaly, Ataxia, Gait disturbance, Lymphadenopathy |
OMIM:214500 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Splenomegaly, Enlarged tonsils, Absence of lymph node germinal center |
OMIM:308230 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Splenomegaly, Lymphadenopathy |
ORPHA:436159 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Splenomegaly, Generalized lymphadenopathy, Lymphadenopathy |
OMIM:614700 |
Neuroendocrine Tumor Of The Colon |
|
Chronic noninfectious lymphadenopathy, Anorexia |
ORPHA:100080 |
Pancreatoblastoma |
|
Abnormal lymph node morphology |
ORPHA:677 |
Farber Disease |
|
Osteoporosis, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:333 |
Hydatidiform Mole |
|
Enlarged uterus |
ORPHA:99927 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Splenomegaly, Lymphadenopathy |
ORPHA:540 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
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Lymphadenopathy |
OMIM:304790 |
Acute Interstitial Pneumonia |
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Lymphadenopathy |
ORPHA:79126 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
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Hypergonadotropic hypogonadism, Splenomegaly, Cervical lymphadenopathy, Lymphadenopathy, Hepatosp... |
OMIM:602782 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
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Splenomegaly, Lymphadenitis, Lymphadenopathy |
OMIM:615895 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
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Aplasia of the uterus, Aplasia of the vagina, Uterus didelphys, Septate vagina |
OMIM:146255 |
Hyper-Igd Syndrome |
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Splenomegaly, Lymphadenitis, Lymphadenopathy, Hepatosplenomegaly |
OMIM:260920 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
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Splenomegaly, Osteoporosis, Lymphadenopathy |
ORPHA:98849 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
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Ataxia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Agitation, Bone marrow hypocellularity |
OMIM:615688 |
Chikungunya |
|
Periostitis, Cervical lymphadenopathy, Osteolysis, Depression, Lymphadenopathy |
ORPHA:324625 |
Multiple Myeloma |
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Osteopenia, Splenomegaly, Lymphadenopathy |
ORPHA:29073 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
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Splenomegaly, Lymphadenitis, Lymphadenopathy |
OMIM:233700 |
Coccidioidomycosis |
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Abnormal sperm morphology, Abnormality of the spleen, Mediastinal lymphadenopathy, Osteolysis, Ly... |
ORPHA:228123 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
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Splenomegaly, Lymphadenitis, Lymphadenopathy |
OMIM:233710 |
Pulmonary Capillary Hemangiomatosis |
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Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:199241 |
Pediatric Systemic Lupus Erythematosus |
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Lymphadenopathy |
ORPHA:93552 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
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Splenomegaly, Lymphadenopathy |
OMIM:617591 |
Malt Lymphoma |
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Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:52417 |
Lymphangioleiomyomatosis |
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Pulmonary lymphangiomyomatosis, Abnormality of the lymphatic system, Abnormal morphology of femal... |
ORPHA:538 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
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Splenomegaly, Lymphadenitis, Lymphadenopathy |
OMIM:233690 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
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Lymphadenopathy |
OMIM:617099 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
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Lymphadenopathy |
ORPHA:139402 |
Behçet Disease |
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Ataxia, Anorexia, Orchitis, Splenomegaly, Lymphadenopathy, Irritability, Gait disturbance |
ORPHA:117 |
Q Fever |
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Splenomegaly, Lymphadenopathy, Anorexia, Hepatosplenomegaly |
ORPHA:781 |
Riddle Syndrome |
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Emotional lability, Generalized lymphadenopathy, Ataxia, Gait disturbance |
ORPHA:420741 |
Meckel Syndrome 14 |
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Ambiguous genitalia, Decreased calvarial ossification, Aplasia of the uterus |
OMIM:619879 |
Chédiak-Higashi Syndrome |
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Ataxia, Splenomegaly, Inability to walk, Lymphadenopathy, Hepatosplenomegaly, Gait disturbance |
ORPHA:167 |
Townes-Brocks Syndrome 2 |
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Rectovaginal fistula, Hypospadias, Bifid uterus |
OMIM:617466 |
Gallbladder Neuroendocrine Tumor |
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Chronic noninfectious lymphadenopathy, Anorexia |
ORPHA:100086 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
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Absence of lymph node germinal center, Hepatosplenomegaly |
ORPHA:79124 |
Fanconi Anemia, Complementation Group L |
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Micropenis, Bone marrow hypocellularity, Aplasia of the uterus, Attention deficit hyperactivity d... |
OMIM:614083 |
Immunodeficiency 31C |
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Osteopenia, Splenomegaly, Lymphadenopathy |
OMIM:614162 |
Spondyloenchondrodysplasia With Immune Dysregulation |
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Sclerosis of skull base, Lymphadenopathy |
OMIM:607944 |
Hennekam Syndrome |
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Craniosynostosis, Splenomegaly, Pulmonary lymphangiectasia, Lymphadenopathy, Lymphangioma |
ORPHA:2136 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
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Hypoplasia of the vagina, Aplasia of the uterus |
ORPHA:3109 |
Oeis Complex |
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Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal fistula, Amb... |
OMIM:258040 |
Autosomal Recessive Malignant Osteopetrosis |
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Craniosynostosis, Splenomegaly, Reduced bone mineral density, Lymphadenopathy, Osteopetrosis |
ORPHA:667 |
Acute Generalized Exanthematous Pustulosis |
|
Lymphadenopathy |
ORPHA:293173 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
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Accessory spleen, Splenomegaly, Polysplenia, Lymphadenopathy |
OMIM:619418 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Aplasia of the thymus, Lymphadenopathy |
ORPHA:83471 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Cervical lymphadenopathy, Lymphadenopathy |
OMIM:617718 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
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Aplasia of the uterus, Vaginal atresia, Uterus didelphys, Septate vagina |
ORPHA:2237 |
Immunodeficiency 55 |
|
Lymphadenopathy |
OMIM:617827 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
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Fused labia majora, Abnormal external genitalia, Hypogonadotropic hypogonadism, Precocious pubert... |
ORPHA:90794 |
Brucellosis |
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Anorexia, Hypersplenism, Splenomegaly, Orchitis, Epididymitis, Lymphadenopathy, Depression |
ORPHA:1304 |
Chromosome 17Q12 Deletion Syndrome |
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Cryptorchidism, Pica, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus |
OMIM:614527 |
Neuroendocrine Neoplasm Of Appendix |
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Chronic noninfectious lymphadenopathy, Anorexia, Ovarian neoplasm |
ORPHA:100079 |
Granulomatous Disease, Chronic, X-Linked |
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Splenomegaly, Lymphadenitis, Lymphadenopathy |
OMIM:306400 |
Immunodeficiency 82 With Systemic Inflammation |
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Osteomalacia, Anorexia, Follicular hyperplasia, Splenomegaly, Lymphadenopathy, Anoperineal fistula |
OMIM:619381 |
Selective Igm Deficiency |
|
Lymphadenitis, Lymphadenopathy |
ORPHA:331235 |
Common Variable Immunodeficiency |
|
Splenomegaly, Lymphadenopathy |
ORPHA:1572 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Splenomegaly, Lymphadenopathy |
ORPHA:37042 |
Sarcoidosis, Susceptibility To, 1 |
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Generalized lymphadenopathy, Anorexia, Splenomegaly, Mediastinal lymphadenopathy, Bone cyst |
OMIM:181000 |
Lethal Omphalocele-Cleft Palate Syndrome |
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Bifid uterus |
ORPHA:2736 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
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Absent peripheral lymph nodes in presence of infection |
OMIM:600802 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
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Hyperactivity, Aplasia of the vagina, Aplasia of the uterus |
ORPHA:457284 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
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Orchitis, Splenomegaly, Lymphadenopathy |
ORPHA:32960 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
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Abnormal reproductive system morphology, Craniosynostosis, Bifid uterus |
ORPHA:1521 |
Autoimmune Lymphoproliferative Syndrome |
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Chronic noninfectious lymphadenopathy, Hypersplenism, Splenomegaly, Lymphadenopathy, Bone marrow ... |
ORPHA:3261 |
Thrombocytopenia-Absent Radius Syndrome |
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Aplasia of the uterus |
ORPHA:3320 |
Tangier Disease |
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Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Hepatosplenomegaly |
ORPHA:31150 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
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Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia |
OMIM:271520 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Anorexia, Neoplasm of the thymus, Osteoporosis, Abnormal lymph node morphology, Depression, Prost... |
ORPHA:99889 |
Familial Mediterranean Fever |
|
Orchitis, Splenomegaly, Lymphadenopathy |
ORPHA:342 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
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Lymphadenopathy, Hepatosplenomegaly |
ORPHA:85408 |
Pontocerebellar Hypoplasia Type 7 |
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Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi... |
ORPHA:284339 |
African Trypanosomiasis |
|
Akinesia, Aggressive behavior, Splenomegaly, Hepatosplenomegaly, Lymphadenopathy, Choreoathetosis... |
ORPHA:3385 |
Marburg Hemorrhagic Fever |
|
Anorexia, Aggressive behavior, Orchitis, Lymphadenopathy, Lethargy |
ORPHA:99826 |
Cardiac-Urogenital Syndrome |
|
Accessory spleen, Bifid scrotum, Unilateral cryptorchidism, Cryptorchidism, Aplasia of the uterus... |
OMIM:618280 |
Crimean-Congo Hemorrhagic Fever |
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Anorexia, Orchitis, Splenomegaly, Epididymitis, Lymphadenopathy, Agitation, Emotional lability |
ORPHA:99827 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Hyperactivity, Hypospadias, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Cry... |
ORPHA:353281 |
Systemic Lupus Erythematosus |
|
Depression, Lymphadenopathy |
ORPHA:536 |
Primary Sjögren Syndrome |
|
Depression, Vaginal dryness, Lymphadenopathy |
ORPHA:289390 |
Wolf-Hirschhorn Syndrome |
|
Accessory spleen, Hypospadias, Precocious puberty, Cryptorchidism, Abnormal sternal ossification,... |
OMIM:194190 |
Sarcoidosis |
|
Abnormal reproductive system morphology, Abnormal lymph node morphology, Bone cyst, Lymphadenopathy |
ORPHA:797 |
Adenocarcinoma Of The Anal Canal |
|
Lymphadenopathy |
ORPHA:424016 |
Igg4-Related Submandibular Gland Disease |
|
Prostatitis, Lymphadenopathy |
ORPHA:449432 |
Plague |
|
Anorexia, Splenomegaly, Lymphadenitis, Unsteady gait, Enlarged mesenteric lymph node, Depression |
ORPHA:707 |
Phocomelia, Schinzel Type |
|
Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus |
ORPHA:2879 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia of the uterus, Hepatosplenomegaly |
OMIM:274000 |
Ileal Neuroendocrine Tumor |
|
Lymphadenopathy |
ORPHA:100078 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Hyperactivity, Hypospadias, Impulsivity, Aggressive behavior, Cryptorchidism, Abnormal fear-induc... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Hyperactivity, Hypospadias, Impulsivity, Aggressive behavior, Cryptorchidism, Abnormal fear-induc... |
ORPHA:353277 |
Coffin-Siris Syndrome 1 |
|
Hypospadias, Aggressive behavior, Cryptorchidism, Gait ataxia, Aplasia of the uterus, Compulsive ... |
OMIM:135900 |
Igg4-Related Ophthalmic Disease |
|
Orchitis, Prostatitis, Lymphadenopathy |
ORPHA:449563 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Abnormal vagina morphology, Hypospadias, Bifid uterus |
OMIM:236680 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Splenomegaly, Epididymitis, Lymphadenopathy |
OMIM:256040 |
Limb-Mammary Syndrome |
|
Aplasia of the uterus, Aplasia of the ovary |
ORPHA:69085 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Cryptorchidism, Cystocele, Osteolytic defects of the phalanges of the hand, Foot acroosteolysis, ... |
OMIM:130050 |
Igg4-Related Kidney Disease |
|
Lymphadenitis, Prostatitis, Lymphadenopathy |
ORPHA:449395 |
Exstrophy-Epispadias Complex |
|
Bifid scrotum, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal transposition, Ab... |
ORPHA:322 |
Norrie Disease |
|
Cryptorchidism, Self-injurious behavior, Irritability, Attention deficit hyperactivity disorder, ... |
ORPHA:649 |
Okamoto Syndrome |
|
Splenomegaly, Bifid uterus |
ORPHA:2729 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Lymphadenopathy |
ORPHA:79078 |
Leptospirosis |
|
Anorexia, Lymphadenopathy |
ORPHA:509 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Small scrotum, Hypospadias, Cryptorchidism, Decreased calvarial ossification, Anteriorly displace... |
OMIM:276820 |
Blau Syndrome |
|
Splenomegaly, Lymphadenopathy |
ORPHA:90340 |
Loeys-Dietz Syndrome |
|
Craniosynostosis, Uterine rupture |
ORPHA:60030 |
Neu-Laxova Syndrome 1 |
|
Cryptorchidism, Bifid uterus |
OMIM:256520 |
Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Rectoperineal fistula, Hypospadias, Bifid uterus, Cryptorchidism, Rectovaginal fis... |
OMIM:107480 |
Vascular Ehlers-Danlos Syndrome |
|
Hypospadias, Cryptorchidism, Cystocele, Osteolysis, Uterine rupture, Uterine prolapse |
ORPHA:286 |
Pallister-Killian Syndrome |
|
Small scrotum, Hypospadias, Inability to walk, Cryptorchidism, Hypoplastic labia majora, Aplasia ... |
OMIM:601803 |