| Hepatic Venoocclusive Disease With Immunodeficiency |
|
Endocardial fibrosis, Absence of lymph node germinal center |
OMIM:235550 |
| Squamous Cell Carcinoma Of The Esophagus |
|
Lymphadenopathy, Clinodactyly of the 5th toe |
ORPHA:99977 |
| Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Congenital adrenal hyperplasia, Ambiguous genitalia, Increased circulating ACTH level |
OMIM:613571 |
| Lipoid Congenital Adrenal Hyperplasia |
|
Hypospadias, Congenital adrenal hyperplasia, Adrenogenital syndrome |
OMIM:201710 |
| Immunodeficiency 32A |
|
Lymphadenopathy |
OMIM:614893 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Hypospadias, Increased circulating progesterone, Aplasia of the uterus, Bifid scrotum, Elevated c... |
ORPHA:90793 |
| Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Adrenogenital syndrome, Ambiguous genitalia, Primary amenorrhea, Male pseudo... |
OMIM:202110 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
Adrenal hyperplasia, Macronodular adrenal hyperplasia, Primary hypercortisolism, Increased circul... |
OMIM:219080 |
| Pulmonary Nodular Lymphoid Hyperplasia |
|
Mediastinal lymphadenopathy, Follicular hyperplasia |
ORPHA:60026 |
| Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Adrenal hyperplasia, Hirsutism, Primary hypercortisolism, Increased circulating cortisol level, A... |
OMIM:615830 |
| Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy |
OMIM:616126 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... |
ORPHA:52901 |
| Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
| Familial Papillary Or Follicular Thyroid Carcinoma |
|
Goiter, Papillary thyroid carcinoma, Nodular goiter, Abnormality of the lymph nodes, Follicular t... |
ORPHA:319487 |
| Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Hypospadias, Adrenogenital syndrome, Adrenal hyperplasia |
OMIM:201910 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hypospadias, Increased serum testosterone level, Hirsutism, Premature adrenarche, Ambiguous genit... |
ORPHA:90791 |
| Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Goiter, Papillary thyroid carcinoma, Nodular goiter, Abnormality of the lymph nodes, Chronic noni... |
ORPHA:97290 |
| Kerion Celsi |
|
Lymphadenopathy, Alopecia |
ORPHA:499 |
| Primary Pigmented Nodular Adrenocortical Disease |
|
Adrenal hyperplasia, Cardiac myxoma, Increased urinary cortisol level, Type II diabetes mellitus,... |
ORPHA:189439 |
| Hyperaldosteronism, Familial, Type I |
|
Adrenal hyperplasia, Adrenogenital syndrome, Hyperaldosteronism, Decreased circulating renin level |
OMIM:103900 |
| Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hypospadias, Adrenal hyperplasia, Bifid scrotum, Absent scrotum, Micropenis, Ambiguous genitalia,... |
OMIM:201810 |
| Autoimmune Polyendocrinopathy Type 1 |
|
Adrenal hyperplasia, Decreased circulating aldosterone level, Hypoparathyroidism, Increased circu... |
ORPHA:3453 |
| Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Adrenal hyperplasia, Increased circulating cortisol level |
OMIM:614190 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Oligospermia, Hypospadias, Increased circulating progesterone, Adrenal hyperplasia, Fused labia m... |
ORPHA:95699 |
| Reticuloendotheliosis, X-Linked |
|
Lymphadenopathy, Hepatosplenomegaly |
OMIM:312500 |
| Laryngeal Neuroendocrine Tumor |
|
Neuroendocrine neoplasm, Inappropriate antidiuretic hormone secretion, Increased serum serotonin,... |
ORPHA:100083 |
| Hypogonadism, Male |
|
Testicular atrophy, Micropenis, Male hypogonadism, Hypospadias |
OMIM:241100 |
| Adenocarcinoma Of The Esophagus |
|
Lymphadenopathy, Clinodactyly of the 5th toe |
ORPHA:99976 |
| Roifman Syndrome |
|
Delayed proximal femoral epiphyseal ossification, Broad femoral head, Noncompaction cardiomyopath... |
ORPHA:353298 |
| Familial Hyperaldosteronism Type Iii |
|
Adrenal hyperplasia, Abnormal circulating renin, Left ventricular hypertrophy, Glucocortocoid-ins... |
ORPHA:251274 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
OMIM:608971 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Cardiomegaly |
OMIM:300886 |
| Familial Hyperaldosteronism Type Ii |
|
Adrenal hyperplasia, Abnormal circulating renin, Secretory adrenocortical adenoma, Glucocortocoid... |
ORPHA:404 |
| Alpha-Heavy Chain Disease |
|
Hepatomegaly, Lymphadenopathy, Alopecia, Splenomegaly, Premature ovarian insufficiency |
ORPHA:100025 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
OMIM:618495 |
| Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Abnormal circulating renin, Secretory adrenocortical adenoma, Dexamethasone-... |
ORPHA:403 |
| Hemochromatosis, Type 1 |
|
Testicular atrophy, Hepatomegaly, Amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Alopeci... |
OMIM:235200 |
| Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Metaphyseal dysplasia, Genu varum, Broad tibial metaphyses, Bowing of the legs, Metaphyseal widen... |
ORPHA:2502 |
| Maternal Uniparental Disomy Of Chromosome 6 |
|
Increased serum testosterone level, Spontaneous abortion, Clitoral hypertrophy, Congenital adrena... |
ORPHA:96181 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Macronodular adrenal hyperplasia, Increased urinary cortisol level, Increased circulating cortiso... |
OMIM:615954 |
| Kimura Disease |
|
Abnormal salivary gland morphology, Lymphadenopathy, Follicular hyperplasia |
ORPHA:482 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating aldosterone level, Increased serum testosterone level, Increased circulatin... |
OMIM:202010 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Adrenal hyperplasia, Ventricular septal defect, Ventricular hypertrophy, Abnormal circulating ren... |
ORPHA:369929 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Lymphadenopathy, Dilated cardiomyopathy, Hepatomegaly |
OMIM:615895 |
| Immunodeficiency 75 |
|
Lymphadenopathy, Hepatosplenomegaly, Follicular hyperplasia |
OMIM:619126 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Adrenal hyperplasia, Macroorchidism, Hyperactive renin-angiotensin system, Endometrial carcinoma,... |
ORPHA:90790 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Aplasia of the thymus, Genital ulcers, Absent tonsils, Lymph node hypoplasia |
OMIM:602450 |
| Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Macronodular adrenal hyperplasia, Abnormal response to corticotropin releasing hormone stimulatio... |
ORPHA:189427 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Oligospermia, Decreased circulating aldosterone level, Adrenal hyperplasia, Infertility, Increase... |
ORPHA:786 |
| 46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Hypospadias, Ventricular septal defect, Sex reversal, Adrenal gland agenesis, Ovotestis |
OMIM:611812 |
| Symptomatic Form Of Hemochromatosis Type 1 |
|
Testicular atrophy, Hepatomegaly, Infertility, Amenorrhea, Hypogonadotropic hypogonadism, Apathy,... |
ORPHA:465508 |
| Roifman Syndrome |
|
Hepatomegaly, Ventricular septal defect, Noncompaction cardiomyopathy, Prominent eyelashes, Lymph... |
OMIM:616651 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hallux valgus, Pancreatic hypoplasia, Lymphadenopathy, Splenomegaly, Micropenis, Hepatosplenomega... |
OMIM:602782 |
| Burkitt Lymphoma |
|
Abnormality of the ovary, Abnormality of the spleen, Abnormality of the lymph nodes |
ORPHA:543 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Myocarditis, Talipes equinovarus, Metaphyseal irregularity, Long fibula, Iliac crest serration, S... |
OMIM:250220 |
| Hydrolethalus Syndrome 1 |
|
Hypospadias, Complete atrioventricular canal defect, Abnormal vagina morphology, Upper limb under... |
OMIM:236680 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly, Congenital hypothyroidism |
ORPHA:88643 |
| Immunodeficiency 54 |
|
Hepatomegaly, Adrenal insufficiency, Lymphadenopathy, Splenomegaly, Adrenocorticotropic hormone e... |
OMIM:609981 |
| Spermatogenic Failure, X-Linked, 2 |
|
Testicular atrophy, Male infertility, Azoospermia |
OMIM:309120 |
| Carcinoma Of Esophagus |
|
Lymphadenopathy |
ORPHA:70482 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Metaphyseal irregularity, Long fibula, Short phalanx of finger, Short long bone, Flat acetabular ... |
OMIM:300106 |
| Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Metaphyseal irregularity, Cardiomegaly, Splenomegaly, Fair hair |
OMIM:269920 |
| Kennedy Disease |
|
Testicular atrophy, Type II diabetes mellitus, Erectile dysfunction, Decreased fertility |
ORPHA:481 |
| Timothy Syndrome |
|
Ventricular septal defect, Cardiomegaly, Syndactyly, Tetralogy of Fallot, Hypothyroidism, Cutaneo... |
OMIM:601005 |
| Cantu Syndrome |
|
Bicuspid aortic valve, Pericardial effusion, Metaphyseal widening, Broad first metatarsal, Cardio... |
OMIM:239850 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Left ventricular hypertrophy, Hypothyroidism |
OMIM:617713 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:86893 |
| Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Lymphadenopathy, Hepatomegaly, Recurrent tonsillitis, Splenomegaly |
OMIM:618852 |
| Congenital Toxoplasmosis |
|
Lymphadenopathy, Hepatomegaly, Cardiomegaly |
ORPHA:858 |
| Immunodeficiency With Hyper-Igm, Type 5 |
|
Lymphadenopathy, Epididymitis |
OMIM:608106 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy, Nail dystrophy, Bone marrow hypocellularity |
OMIM:613987 |
| Thymic Neuroendocrine Tumor |
|
Neuroendocrine neoplasm, Mediastinal lymphadenopathy, Neoplasm of the thymus, Increased circulati... |
ORPHA:97289 |
| Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Hirsutism, Aggressive behavior, Coarse hair, Cardiomegaly, Splenomegaly, Asymmetric... |
OMIM:252920 |
| Hyperaldosteronism, Familial, Type Iii |
|
Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level |
OMIM:613677 |
| Mast Cell Sarcoma |
|
Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly |
ORPHA:66661 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Syndactyly, Cardiomegaly, Sparse hair |
OMIM:613576 |
| Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atrial septal defect, Patent f... |
OMIM:618652 |
| Spinocerebellar Ataxia 32 |
|
Testicular atrophy, Infertility, Azoospermia |
OMIM:613909 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphadenopathy, Splenomegaly |
ORPHA:444463 |
| Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Male infertility, Azoospermia |
ORPHA:276183 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy, Toe syndactyly, Clinodactyly of the 5th finger, Syndactyly |
OMIM:601163 |
| Bone Marrow Failure Syndrome 5 |
|
Testicular atrophy, Hypogonadism |
OMIM:618165 |
| Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Infertility, Spontaneous abortion, Abnormality of the lymph nodes |
OMIM:136580 |
| Thyroid Lymphoma |
|
Goiter, Lymphadenopathy, Hyperthyroidism, Hypothyroidism, Hashimoto thyroiditis |
ORPHA:97285 |
| Weismann-Netter Syndrome |
|
Abnormality of tibia morphology, Abnormality of the ulna, Tibial bowing, Fibular bowing, Abnormal... |
ORPHA:3344 |
| Hodgkin Lymphoma |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:98293 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Abnormal testis morphology, Abnormality of the lymphatic system, Abnormality of the lymph nodes |
ORPHA:54251 |
| Immunodeficiency 72 With Autoinflammation |
|
Lymphadenopathy, Clubbing of fingers, Hepatosplenomegaly |
OMIM:618982 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Secondary amenorrhea, Hirsutism, Atypical pulmonary carcinoid tumor, Neoplas... |
ORPHA:99889 |
| Desmoplastic Small Round Cell Tumor |
|
Ovarian neoplasm, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Neoplasm of the pan... |
ORPHA:83469 |
| Primary Unilateral Adrenal Hyperplasia |
|
Adrenal hyperplasia, Decreased circulating renin level, Glucocortocoid-insensitive primary hypera... |
ORPHA:231580 |
| Poems Syndrome |
|
Hypertrichosis, Pericardial effusion, Lymphadenopathy, Abnormality of the endocrine system, Erect... |
ORPHA:2905 |
| Acquired Hypertrichosis Lanuginosa |
|
Fine hair, Ovarian neoplasm, Lymphadenopathy, Abnormal eyebrow morphology, Generalized hirsutism,... |
ORPHA:2221 |
| Lethal Congenital Contracture Syndrome 10 |
|
Ventricular septal defect, Adducted thumb, Talipes equinovarus, Hypoplasia of the thymus, Cardiom... |
OMIM:617022 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Alopecia, Splenomegaly, Hepatosplenom... |
OMIM:615559 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Macroorchidism, Mitral valve prolapse, Cardiomegaly, Abnormal thumb morphology, Abnormal atrioven... |
ORPHA:324410 |
| Tetraamelia Syndrome 1 |
|
Asplenia, Urethral atresia, Adrenal gland agenesis, Hypoplasia of the fallopian tube, Vaginal atr... |
OMIM:273395 |
| Medullary Thyroid Carcinoma |
|
Lymphadenopathy, Nodular goiter, Medullary thyroid carcinoma, Primary hyperparathyroidism, Elevat... |
ORPHA:1332 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Exostoses of the ulna, Exostoses of the radius, Deformed humerus, Flared femoral metaphysis, Tibi... |
ORPHA:85188 |
| Lig4 Syndrome |
|
Hepatomegaly, Type II diabetes mellitus, Low anterior hairline, Lymphadenopathy, Clinodactyly of ... |
ORPHA:99812 |
| Follicular Lymphoma |
|
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly |
ORPHA:545 |
| Immunodeficiency 64 |
|
Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Hepatosplenomegaly, Cervical lymphade... |
OMIM:618534 |
| Léri-Weill Dyschondrosteosis |
|
Abnormality of the ulna, Genu varum, Dorsal subluxation of ulna, Hypoplasia of the radius, Abnorm... |
ORPHA:240 |
| Immunodeficiency 7 |
|
Lymphadenopathy |
OMIM:615387 |
| Mu-Heavy Chain Disease |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:100024 |
| Aarskog-Scott Syndrome |
|
Testicular atrophy, Elevated circulating follicle stimulating hormone level, Hyperextensibility o... |
OMIM:305400 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Testicular atrophy, Azoospermia, Hypogonadotropic hypogonadism, Decreased circulating follicle st... |
OMIM:308700 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Lymphadenopathy, Clinodactyly, Brachydactyly |
OMIM:618048 |
| Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Lymphadenopathy |
OMIM:617772 |
| Omenn Syndrome |
|
Hepatomegaly, Lymphadenopathy, Alopecia, Abnormality of the metaphysis, Splenomegaly, Thyroiditis... |
ORPHA:39041 |
| Mogs-Cdg |
|
Hepatomegaly, Hirsutism, Inappropriate antidiuretic hormone secretion, External genital hypoplasi... |
ORPHA:79330 |
| Classic Mycosis Fungoides |
|
Lymphadenopathy, Hepatomegaly, Alopecia, Splenomegaly |
ORPHA:2584 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Hepatomegaly, Ventricular septal defect, Maternal diabetes, Biventricular hypertrophy, Abnormal m... |
ORPHA:860 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
OMIM:603552 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Testicular atrophy, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hor... |
OMIM:308750 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypospadias, Hypertrophic cardiomyopathy, Ventricular septal defect, Adducted thumb, Decreased fi... |
OMIM:616897 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
| Lymphoproliferative Syndrome 3 |
|
Lymphadenopathy, Hepatosplenomegaly |
OMIM:618261 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Lymphadenopathy, Hepatomegaly, Thyroiditis, Splenomegaly |
OMIM:619375 |
| Cushing Disease |
|
Adrenal hyperplasia, Secondary amenorrhea, Increased urinary cortisol level, Oligomenorrhea, Hirs... |
ORPHA:96253 |
| Immunodeficiency 27A |
|
Enlarged mesenteric lymph node, Hypoplasia of the femoral head, Lymphadenopathy, Splenomegaly, He... |
OMIM:209950 |
| Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
Cardiomegaly |
OMIM:618654 |
| Immunodeficiency, Common Variable, 2 |
|
Lymphadenopathy, Hepatomegaly, Follicular hyperplasia, Splenomegaly |
OMIM:240500 |
| Developmental And Epileptic Encephalopathy 95 |
|
Inappropriate crying, Highly arched eyebrow, Hepatomegaly, Cardiomegaly, Inappropriate laughter, ... |
OMIM:618143 |
| Attrv30M Amyloidosis |
|
Cardiomegaly, Cardiomyopathy, Impotence |
ORPHA:85447 |
| Wolfram Syndrome 1 |
|
Testicular atrophy, Diabetes insipidus, Cardiomyopathy, Limited mobility of proximal interphalang... |
OMIM:222300 |
| Immunodeficiency 14A, Autosomal Dominant |
|
Lymphadenopathy, Splenomegaly |
OMIM:615513 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Myocarditis, Cone-shaped epiphysis, Long fibula, Rhizomelic arm shortening, Iliac crest serration... |
ORPHA:93317 |
| Neuraminidase Deficiency |
|
Hepatomegaly, Epiphyseal stippling, Cardiomegaly, Cardiomyopathy, Splenomegaly |
OMIM:256550 |
| Immunodeficiency 76 |
|
Lymphadenopathy, Splenomegaly |
OMIM:619164 |
| Pfapa Syndrome |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:42642 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Fluctuating splenomegaly, Lymphadenopathy |
OMIM:619220 |
| Hypertrichotic Osteochondrodysplasia, Cantu Type |
|
Hypertrophic cardiomyopathy, Broad hallux phalanx, Low anterior hairline, Low posterior hairline,... |
ORPHA:1517 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly |
OMIM:300853 |
| Immunodeficiency 55 |
|
Lymphadenopathy |
OMIM:617827 |
| Anaplastic Thyroid Carcinoma |
|
Lymphadenopathy, Anaplastic thyroid carcinoma, Nodular goiter, Goiter |
ORPHA:142 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Oligospermia, Hepatomegaly, Lymphadenopathy, Abnormality of the lymph nodes, Hypogonadism, Abnorm... |
ORPHA:85450 |
| Omenn Syndrome |
|
Hepatomegaly, Lymphadenopathy, Hypoplasia of the thymus, Alopecia, Splenomegaly |
OMIM:603554 |
| Granulomatous Slack Skin |
|
Abnormality of the lymph nodes |
ORPHA:33111 |
| Mulibrey Nanism |
|
Hepatomegaly, Pericardial constriction, Thickened cortex of long bones, Cardiomegaly, Myocardial ... |
OMIM:253250 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Metaphyseal cupping, Cardiomegaly, Iliac crest serration, Hypoplastic ischia, Short long bone, Mi... |
OMIM:613320 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Lymphadenopathy, Hepatosplenomegaly, Splenomegaly |
OMIM:613101 |
| Immunodeficiency 52 |
|
Lymphadenopathy, Splenomegaly |
OMIM:617514 |
| Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Irregular epiphyses, Small epiphyses, Hirsutism, Low anterior hairline, Metaphyseal irregularity,... |
OMIM:610442 |
| Immunodeficiency With Hyper-Igm, Type 2 |
|
Lymphadenopathy |
OMIM:605258 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Hepatosplenomegaly, Abnormality of the lymph nodes, Splenomegaly |
OMIM:612840 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Triangular shaped distal phalanges of the hand, Abnormal calcification of the carpal bones, Metat... |
OMIM:271665 |
| Schnitzler Syndrome |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:37748 |
| Agammaglobulinemia, X-Linked |
|
Cor pulmonale, Lymph node hypoplasia, Epididymitis, Prostatitis |
OMIM:300755 |
| Candidiasis, Familial, 2 |
|
Lymphadenopathy |
OMIM:212050 |
| Rosaï-Dorfman Disease |
|
Lymphadenopathy |
ORPHA:158014 |
| H Syndrome |
|
Hallux valgus, Hypertrichosis, Amenorrhea, Azoospermia, Lymphadenopathy, Alopecia, Abnormal eyebr... |
ORPHA:168569 |
| Myotonic Dystrophy 1 |
|
Testicular atrophy, Frontal balding, Cholelithiasis, Hypogonadism |
OMIM:160900 |
| Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly, Hip dysplasia, Anxiety, Depression |
OMIM:618798 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Hirsutism, Cardiomegaly, Arachnodactyly, Thin metatarsal cortices, Slender long bone, Thin metaca... |
ORPHA:2463 |
| Immunodeficiency, Common Variable, 1 |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
OMIM:607594 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Long eyelashes, Cardiomegaly, Synophrys |
OMIM:619064 |
| Pleural Mesothelioma |
|
Lymphadenopathy, Hepatomegaly |
ORPHA:50251 |
| Greenberg Dysplasia |
|
Epiphyseal stippling, Hepatosplenomegaly, Abnormal ossification involving the femoral head and ne... |
OMIM:215140 |
| Systemic-Onset Juvenile Idiopathic Arthritis |
|
Lymphadenopathy, Hepatomegaly, Pericarditis, Splenomegaly |
ORPHA:85414 |
| Middle Ear Neuroendocrine Tumor |
|
Neuroendocrine neoplasm, Chronic noninfectious lymphadenopathy, Carcinoid tumor |
ORPHA:100084 |
| Carnitine Deficiency, Systemic Primary |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Endocardial fibroelastosis, Cardiomegaly |
OMIM:212140 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Absent tonsils, Absence of lymph node germinal center |
ORPHA:277 |
| Familial Atrial Myxoma |
|
Cardiomegaly, Bacterial endocarditis, Cardiac myxoma, Pulmonic valve myxoma |
ORPHA:615 |
| Sickle Cell Anemia |
|
Hepatomegaly, Priapism, Cardiomegaly, Cholelithiasis, Splenomegaly |
OMIM:603903 |
| Classic Hodgkin Lymphoma |
|
Lymphadenopathy, Hepatomegaly, Bone marrow hypocellularity, Splenomegaly |
ORPHA:391 |
| Lethal Acantholytic Erosive Disorder |
|
Congenital alopecia totalis, Absent hair, 3-4 finger syndactyly, Cardiomegaly, Cardiomyopathy, Ab... |
ORPHA:158687 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly, Decreased circulating cortisol level |
OMIM:618838 |
| Rhabdoid Tumor |
|
Lymphadenopathy, Irritability |
ORPHA:69077 |
| Indolent Systemic Mastocytosis |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:98848 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Absence of lymph node germinal center |
OMIM:606843 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Cervical lymphadenopathy |
OMIM:618987 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Hallux valgus, Bicuspid aortic valve, Talipes equinovarus, Spatulate thumbs, Broad distal phalang... |
OMIM:245600 |
| Griscelli Syndrome Type 2 |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly, Hypopigmentation of hair, Premature graying of hair |
ORPHA:79477 |
| Caspase 8 Deficiency |
|
Lymphadenopathy, Splenomegaly |
OMIM:607271 |
| Griscelli Syndrome |
|
Hepatomegaly, Silver-gray hair, Lymphadenopathy, White hair, Bone marrow hypocellularity, Abnorma... |
ORPHA:381 |
| Lymphatic Filariasis |
|
Lymphangiectasis, Vaginal hydrocele, Lymphadenopathy, Lymphadenitis, Abnormality of the lymphatic... |
ORPHA:2035 |
| Mucolipidosis Ii Alpha/Beta |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Talipes equinovarus, Hypoplastic scapulae, Metaphyseal... |
OMIM:252500 |
| Fish-Eye Disease |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:79292 |
| Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Hypertrichosis, Pericardial effusion, Low anter... |
ORPHA:363705 |
| Doors Syndrome |
|
Adrenal hyperplasia, Congenital hypothyroidism, Triphalangeal thumb, Sirenomelia, Low anterior ha... |
ORPHA:79500 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Pericardial effusion, Ventricular hypertrophy, Cardiom... |
OMIM:115197 |
| American Trypanosomiasis |
|
Myocarditis, Hepatomegaly, Lymphadenopathy, Cardiomyopathy, Splenomegaly |
ORPHA:3386 |
| Refsum Disease, Classic |
|
Short fourth metatarsal, Cardiomegaly, Cardiomyopathy |
OMIM:266500 |
| Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Abnormal pulmonary valve cusp morphology, Increased serum serotonin, Increased circ... |
ORPHA:97287 |
| Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Bacterial endocarditis, Atrioventricular canal ... |
ORPHA:3092 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
| Familial Cold Autoinflammatory Syndrome 2 |
|
Lymphadenopathy, Splenomegaly |
OMIM:611762 |
| Sézary Syndrome |
|
Hepatomegaly, Lymphadenopathy, Nail dystrophy, Alopecia, Splenomegaly |
ORPHA:3162 |
| Lymphoproliferative Syndrome 2 |
|
Lymphadenopathy, Hepatomegaly, Hepatosplenomegaly, Splenomegaly |
OMIM:615122 |
| Tularemia |
|
Lymphadenopathy, Abnormal nasopharyngeal adenoid morphology, Mediastinal lymphadenopathy, Cervica... |
ORPHA:3392 |
| Cold Agglutinin Disease |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:56425 |
| Cardiomyopathy, Familial Hypertrophic 27 |
|
Cardiomegaly |
OMIM:618052 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Follicular hyperplasia, Splenomegaly |
OMIM:614470 |
| Pseudo-Torch Syndrome 3 |
|
Lymphadenitis, Cardiomegaly |
OMIM:618886 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Left ventricular noncompaction cardiomyopathy, Hallux valgus, Pineal cyst, Ventricular septal def... |
OMIM:300967 |
| Immunodeficiency With Hyper-Igm, Type 4 |
|
Absence of lymph node germinal center |
OMIM:608184 |
| Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Lymphadenopathy, Type I diabetes mellitus |
ORPHA:69126 |
| Truncus Arteriosus |
|
Adrenocortical abnormality, Ventricular septal defect, Truncus arteriosus, Right ventricular hype... |
ORPHA:3384 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Dextrocardia, Ventricular septal defect, Asplenia, Mitral atresia, Double outlet right ventricle,... |
OMIM:306955 |
| Heme Oxygenase 1 Deficiency |
|
Lymphadenopathy, Hepatomegaly, Cervical lymphadenopathy, Asplenia |
OMIM:614034 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Testicular atrophy, Secondary amenorrhea, Primary amenorrhea, Premature ovarian insufficiency, Hy... |
OMIM:157640 |
| Carney Triad |
|
Adrenal overactivity, Adrenocortical adenoma, Mediastinal lymphadenopathy, Lymphadenopathy, Parag... |
ORPHA:139411 |
| Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Paroxysmal bursts of laughter, Cardiomegaly |
ORPHA:391428 |
| Beckwith-Wiedemann Syndrome |
|
Adrenocortical carcinoma, Adrenocortical cytomegaly, Hepatomegaly, Gonadoblastoma, Cardiomegaly, ... |
OMIM:130650 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly |
OMIM:600649 |
| Yunis-Varon Syndrome |
|
Hypospadias, Short middle phalanx of finger, Sparse eyelashes, Micropenis, Syndactyly, Short toe,... |
ORPHA:3472 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Lymphadenopathy, Hepatosplenomegaly, Thyroiditis, Type I diabetes mellitus, Hypothyroidism, Alope... |
OMIM:606367 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Cardiomegaly |
OMIM:619051 |
| Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Pericardial effusion, Right ventricular hypertrophy, Cardiomegaly, Tricuspid valve ... |
ORPHA:555874 |
| Neuroendocrine Tumor Of The Colon |
|
Hepatomegaly, Abnormal pulmonary valve cusp morphology, Atypical pulmonary carcinoid tumor, Incre... |
ORPHA:100080 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Fine hair, White hair, Long fibula, Abnormality of the metaphysis |
ORPHA:935 |
| Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Hirsutism, Abnormal mitral valve morphology, Abnormal aortic valve morphology, Aggr... |
ORPHA:581 |
| Immunodeficiency 27B |
|
Generalized lymphadenopathy |
OMIM:615978 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
OMIM:308240 |
| Danon Disease |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Cardiomegaly, Myocardial necrosis, Myocardia... |
OMIM:300257 |
| Carcinoid Syndrome |
|
Atypical pulmonary carcinoid tumor, Small intestine carcinoid, Increased serum serotonin, Paragan... |
ORPHA:100093 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Absent tonsils, Hepatomegaly, Lymph node hypoplasia |
ORPHA:276 |
| Hypocomplementemic Urticarial Vasculitis |
|
Hepatomegaly, Pericardial effusion, Lymphadenopathy, Splenomegaly, Abnormal heart valve morphology |
ORPHA:36412 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Lymphadenopathy, Splenomegaly |
OMIM:150550 |
| Leishmaniasis |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:507 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Lymphadenopathy, Hepatomegaly, Bone marrow hypocellularity, Splenomegaly |
ORPHA:3226 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Lymphadenopathy, Pericardial effusion |
ORPHA:411703 |
| Pseudomyxoma Peritonei |
|
Lymphadenopathy |
ORPHA:26790 |
| Coronary Arterial Fistula |
|
Bicuspid aortic valve, Bacterial endocarditis, Right ventricular dilatation, Abnormal heart morph... |
ORPHA:2041 |
| Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Mitral stenosis, Splenomegaly, Aortic val... |
OMIM:231005 |
| Attrv122I Amyloidosis |
|
Hypertrophic cardiomyopathy, Cardiac amyloidosis, Restrictive cardiomyopathy, Cardiomegaly, Left ... |
ORPHA:85451 |
| Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Splenomegaly |
OMIM:601859 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomegaly, Cardiomyopathy, Impotence |
OMIM:105210 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly |
ORPHA:99931 |
| Cinca Syndrome |
|
Lymphadenopathy, Hepatosplenomegaly |
OMIM:607115 |
| Scrub Typhus |
|
Lymphadenopathy, Myocarditis, Splenomegaly |
ORPHA:83317 |
| Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Clubbing, Right atrial enlargement, Atrial septal defect, Muscular ventricular sept... |
ORPHA:439 |
| Niemann-Pick Disease, Type A |
|
Lymphadenopathy, Hepatomegaly, Irritability, Splenomegaly |
OMIM:257200 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Lymphadenopathy, Splenomegaly, Generalized lymphadenopathy, Thyroiditis, Type I diabetes mellitus... |
OMIM:614700 |
| Fucosidosis |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Thick eyebrow, Coxa valga |
OMIM:230000 |
| Cinca Syndrome |
|
Lymphadenopathy, Hepatomegaly, Brachydactyly, Splenomegaly |
ORPHA:1451 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hallux valgus, Hepatomegaly, Hypertrichosis, Flexion contracture of toe, Hypoplastic scapulae, Ly... |
OMIM:256040 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Lymphadenopathy, Lymphadenitis, Hepatosplenomegaly, Abnormality of the lymph nodes |
ORPHA:911 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly, Chronic noninfectious lymphadenopathy, Follicular hy... |
OMIM:603909 |
| Adult-Onset Still Disease |
|
Myocarditis, Hepatomegaly, Pericarditis, Bone marrow hypocellularity, Splenomegaly, Generalized l... |
ORPHA:829 |
| Meige Disease |
|
Absence of lymph node germinal center, Lymph node hypoplasia |
ORPHA:90186 |
| Immunodeficiency 91 And Hyperinflammation |
|
Lymphadenopathy, Hepatomegaly, Hepatosplenomegaly |
OMIM:619644 |
| Felty Syndrome |
|
Hepatomegaly, Pericarditis, Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly |
ORPHA:47612 |
| Mixed Connective Tissue Disease |
|
Myocarditis, Hepatomegaly, Pericarditis, Mediastinal lymphadenopathy, Lymphadenopathy, Alopecia, ... |
ORPHA:809 |
| Mycosis Fungoides |
|
Lymphadenopathy |
OMIM:254400 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Dilated cardiomyopathy, Hepatomegaly, Tapered finger, Long fingers, Cardiomegaly, Tapered toe, Lo... |
OMIM:608836 |
| Legionnaires Disease |
|
Myocarditis, Pericarditis, Endocarditis, Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly |
ORPHA:549 |
| Lymphoproliferative Syndrome 1 |
|
Lymphadenopathy, Hepatomegaly, Pericardial effusion, Splenomegaly |
OMIM:613011 |
| Neuroendocrine Tumor Of The Rectum |
|
Hepatomegaly, Abnormal pulmonary valve cusp morphology, Atypical pulmonary carcinoid tumor, Incre... |
ORPHA:100081 |
| Neuroendocrine Tumor Of Anal Canal |
|
Hepatomegaly, Abnormal pulmonary valve cusp morphology, Atypical pulmonary carcinoid tumor, Incre... |
ORPHA:100082 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Cardiomegaly |
ORPHA:42 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Cardiomegaly |
OMIM:255120 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Lymphadenopathy, Alopecia, Type I diabetes mellitus, Hypothyroidism |
OMIM:304790 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Cardiomegaly, Apathy, Splenomegaly, Hepatosplenomegaly |
OMIM:608013 |
| Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Pericarditis, Lymphadenopathy, Abnormal sacroiliac joint morphology, Splenomegaly, Orchitis, Abno... |
ORPHA:32960 |
| Familial Pancreatic Carcinoma |
|
Lymphadenopathy, Pancreatic adenocarcinoma, Hepatosplenomegaly, Ovarian carcinoma, Diabetes mellitus |
ORPHA:1333 |
| Primary Myelofibrosis |
|
Lymphadenopathy, Hepatomegaly, Hepatosplenomegaly, Splenomegaly |
ORPHA:824 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Labial hypertrophy, Cryptorchidism, Neonat... |
ORPHA:96191 |
| Steinert Myotonic Dystrophy |
|
Dilated cardiomyopathy, Talipes equinovarus, Endometrial carcinoma, Diabetes mellitus, Anxiety, E... |
ORPHA:273 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Lymphadenopathy, Lymphadenitis, Splenomegaly, Hepatosplenomegaly, Recurrent tonsillitis |
OMIM:618935 |
| Pancreatoblastoma |
|
Pancreatic calcification, Abnormality of the lymph nodes |
ORPHA:677 |
| Fucosidosis |
|
Hepatomegaly, Cardiomegaly, Hypothyroidism |
ORPHA:349 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Metaphyseal dysplasia, Short iliac bones, Lymphadenopathy, Metaphyseal widening, Metaphyseal irre... |
OMIM:607944 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
OMIM:616100 |
| Sandhoff Disease |
|
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Impotence |
OMIM:268800 |
| Naxos Disease |
|
Dilated cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Nail dystrophy, Card... |
OMIM:601214 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Lymph node hypoplasia, Splenomegaly |
OMIM:613179 |
| Pulmonary Capillary Hemangiomatosis |
|
Lymphadenopathy, Clubbing of fingers, Mediastinal lymphadenopathy, Pericardial effusion |
ORPHA:199241 |
| Aregenerative Anemia |
|
Lymphadenopathy, Emotional lability, Bone marrow hypocellularity, Depression |
ORPHA:101096 |
| Immunodeficiency 10 |
|
Lymphadenopathy |
OMIM:612783 |
| Boutonneuse Fever |
|
Lymphadenopathy, Cervical lymphadenopathy |
ORPHA:83313 |
| Diffuse Cutaneous Mastocytosis |
|
Lymphadenopathy, Abnormality of the spleen, Hepatomegaly |
ORPHA:79456 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly |
OMIM:201475 |
| Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
OMIM:619183 |
| Lesch-Nyhan Syndrome |
|
Testicular atrophy, Self-injurious behavior |
OMIM:300322 |
| Cutaneous Neuroendocrine Carcinoma |
|
Merkel cell skin cancer, Chronic noninfectious lymphadenopathy, Carcinoid tumor |
ORPHA:79140 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomegaly, Depression, Cardiomyopathy |
OMIM:619259 |
| Brucellosis |
|
Myocarditis, Hepatomegaly, Pericarditis, Endocarditis, Lymphadenopathy, Abnormal aortic valve mor... |
ORPHA:1304 |
| Kikuchi-Fujimoto Disease |
|
Myocarditis, Hepatomegaly, Lymphadenopathy, Alopecia, Abnormality of the lymph nodes, Splenomegal... |
ORPHA:50918 |
| Craniofaciofrontodigital Syndrome |
|
Abnormal heart morphology, Cardiomegaly, Hypoplastic pelvis |
OMIM:114620 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left vent... |
ORPHA:1457 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Lymphadenopathy, Thyroiditis, Myocarditis |
ORPHA:139402 |
| Castleman Disease |
|
Mediastinal lymphadenopathy, Lymphadenopathy, Restrictive cardiomyopathy, Generalized lymphadenop... |
ORPHA:160 |
| Bohring-Opitz Syndrome |
|
Happy demeanor, Hypertrichosis, Annular pancreas, Cardiomegaly, Cholelithiasis, Metacarpophalange... |
ORPHA:97297 |
| Q Fever |
|
Myocarditis, Hepatomegaly, Pericarditis, Pericardial effusion, Endocarditis, Lymphadenopathy, Spl... |
ORPHA:781 |
| Multiple Endocrine Neoplasia Type 2 |
|
Elevated circulating parathyroid hormone level, Pheochromocytoma, Cervical lymphadenopathy, Cervi... |
ORPHA:653 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Lymphadenopathy, Hepatosplenomegaly, Alopecia |
ORPHA:169154 |
| Congenital Disorder Of Glycosylation, Type It |
|
Dilated cardiomyopathy, Hepatomegaly, Ventricular septal defect, Decreased serum insulin-like gro... |
OMIM:614921 |
| Aggressive Systemic Mastocytosis |
|
Lymphadenopathy, Hepatosplenomegaly, Hypersplenism |
ORPHA:98850 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:169090 |
| Igg4-Related Submandibular Gland Disease |
|
Abnormal salivary gland morphology, Prostatitis, Abnormal pancreas morphology, Lymphadenopathy, A... |
ORPHA:449432 |
| Glycogen Storage Disease Ii |
|
Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:232300 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Lymphadenopathy, Hepatomegaly, Irritability, Splenomegaly |
OMIM:267700 |
| Coccidioidomycosis |
|
Abnormal sperm morphology, Abnormality of the spleen, Broad metatarsal, Mediastinal lymphadenopat... |
ORPHA:228123 |
| Cyclic Neutropenia |
|
Lymphadenopathy, Cervical lymphadenopathy, Recurrent tonsillitis |
ORPHA:2686 |
| Acute Interstitial Pneumonia |
|
Lymphadenopathy, Pericardial effusion |
ORPHA:79126 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly, Hepatosplenomegaly, Irritability |
OMIM:603553 |
| Macrophage Activation Syndrome |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:158061 |
| X-Linked Intellectual Disability, Snyder Type |
|
Hypospadias, Testicular atrophy, Abnormality of the Leydig cells, Sparse eyebrow, Arachnodactyly,... |
ORPHA:3063 |
| Neuroendocrine Tumor Of Stomach |
|
Hepatomegaly, Abnormal pulmonary valve cusp morphology, Atypical pulmonary carcinoid tumor, Incre... |
ORPHA:100075 |
| Beckwith-Wiedemann Syndrome |
|
Hypertrophic cardiomyopathy, Adrenocortical carcinoma, Adrenocortical cytomegaly, Hepatomegaly, G... |
ORPHA:116 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Enlarged tonsils, Absence of lymph node germinal center, Splenomegaly |
OMIM:308230 |
| Klatskin Tumor |
|
Lymphadenopathy, Hepatomegaly |
ORPHA:99978 |
| Complete Atrioventricular Septal Defect |
|
Complete atrioventricular canal defect, Primum atrial septal defect, Hepatomegaly, Displacement o... |
ORPHA:1329 |
| Duodenal Neuroendocrine Tumor |
|
Tricuspid stenosis, Lymphadenopathy, Insulinoma, Paraganglioma, Pulmonic stenosis, Intestinal car... |
ORPHA:100076 |
| Neuroendocrine Neoplasm Of Appendix |
|
Ovarian neoplasm, Hepatomegaly, Tricuspid stenosis, Increased serum serotonin, Primary hypercorti... |
ORPHA:100079 |
| Pediatric Systemic Lupus Erythematosus |
|
Lymphadenopathy, Alopecia, Pericardial effusion |
ORPHA:93552 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Lymphadenopathy, Hepatomegaly, Finger swelling, Splenomegaly |
OMIM:617591 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Lymphadenopathy, Hepatomegaly |
ORPHA:343 |
| Singleton-Merten Syndrome 1 |
|
Expanded metacarpals with widened medullary cavities, Talipes equinovarus, Hypoplastic distal rad... |
OMIM:182250 |
| African Trypanosomiasis |
|
Abnormal prolactin level, Myocarditis, Hepatomegaly, Infertility, Pericarditis, Abnormality of re... |
ORPHA:3385 |
| Nephroblastoma |
|
Lymphadenopathy |
ORPHA:654 |
| Acute Monoblastic/Monocytic Leukemia |
|
Cervical lymphadenopathy, Central hypothyroidism |
ORPHA:514 |
| Squamous Cell Carcinoma Of The Anal Canal |
|
Lymphadenopathy |
ORPHA:424019 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hepatomegaly, Hepatosplenomegaly, Absence of lymph node germinal center, Inappropriate antidiuret... |
ORPHA:79124 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Lymphadenopathy, Abnormality of epiphysis morphology, Bowing of the long bones, Abn... |
ORPHA:667 |
| Gamma-Heavy Chain Disease |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:100026 |
| Behçet Disease |
|
Pericarditis, Endocarditis, Lymphadenopathy, Splenomegaly, Irritability, Orchitis, Abnormal myoca... |
ORPHA:117 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:540 |
| Cirrhotic Cardiomyopathy |
|
Left atrial enlargement, Hepatomegaly, Cardiomegaly, Left ventricular hypertrophy, Right atrial e... |
ORPHA:57777 |
| Aicardi-Goutières Syndrome |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Micropenis, Hepatosplenomegaly, Irritability, Diabetes... |
ORPHA:51 |
| Mevalonic Aciduria |
|
Lymphadenopathy, Hepatosplenomegaly, Fluctuating splenomegaly, Fluctuating hepatomegaly |
OMIM:610377 |
| Thymic Aplasia |
|
Aplasia of the thymus, Thyroiditis, Lymphadenopathy, Hypothyroidism |
ORPHA:83471 |
| Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Abnormal hip joint morphology, Abnormal metatarsal morphology, Lymphadenopathy, Hepatosplenomegal... |
ORPHA:85408 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Lymphadenopathy, Nail dystrophy, Abnormality of the endocrine system, Alopecia, Splenomegaly, Hyp... |
ORPHA:37042 |
| Tangier Disease |
|
Coronary artery stenosis, Orange discolored tonsils, Nail dystrophy, Left ventricular hypertrophy... |
ORPHA:31150 |
| Familial Mediterranean Fever |
|
Lymphadenopathy, Orchitis, Pericarditis, Splenomegaly |
ORPHA:342 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomyopathy, Cardiomegaly, Biventricular hypertrophy |
OMIM:261740 |
| Ileal Neuroendocrine Tumor |
|
Tricuspid stenosis, Small intestine carcinoid, Increased serum serotonin, Lymphadenopathy, Pulmon... |
ORPHA:100078 |
| Jejunal Neuroendocrine Tumor |
|
Tricuspid stenosis, Small intestine carcinoid, Increased serum serotonin, Lymphadenopathy, Pulmon... |
ORPHA:100077 |
| Chediak-Higashi Syndrome |
|
Hepatomegaly, Silver-gray hair, Lymphadenopathy, Splenomegaly, Hypopigmentation of hair |
OMIM:214500 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatomegaly, Irritability, Cardiomegaly |
OMIM:618278 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Dilated cardiomyopathy, Hepatomegaly, Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly,... |
OMIM:615688 |
| Graft Versus Host Disease |
|
Lymphadenopathy, Hepatosplenomegaly, Irritability |
ORPHA:39812 |
| Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Thyroid carcinoma, Lymphadenopathy, Bone marrow hypocellularity, Thyroid adenoma, S... |
ORPHA:3261 |
| Farber Disease |
|
Lymphadenopathy, Hepatosplenomegaly, Short finger, Short toe |
ORPHA:333 |
| Williams Syndrome |
|
Hallux valgus, Bicuspid aortic valve, Overriding aorta, Abnormality of pelvic girdle bone morphol... |
ORPHA:904 |
| Leigh Syndrome With Nephrotic Syndrome |
|
Cardiomegaly |
ORPHA:255249 |
| Crimean-Congo Hemorrhagic Fever |
|
Mood swings, Myocarditis, Adrenal insufficiency, Hepatomegaly, Pericardial effusion, Inappropriat... |
ORPHA:99827 |
| Malakoplakia |
|
Prostate neoplasm, Abnormality of the menstrual cycle, Orchitis, Follicular hyperplasia |
ORPHA:556 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Hepatomegaly, Ventricular septal defect, Lymphadenopathy, Splenomegaly, Accessory spleen, Primary... |
OMIM:619418 |
| Malt Lymphoma |
|
Lymphadenopathy, Mediastinal lymphadenopathy, Abnormality of the thyroid gland |
ORPHA:52417 |
| Hennekam Syndrome |
|
Pulmonary lymphangiectasia, Pericardial effusion, Lymphadenopathy, Lymphangioma, Finger syndactyl... |
ORPHA:2136 |
| Melkersson-Rosenthal Syndrome |
|
Lymphadenopathy |
ORPHA:2483 |
| Igg4-Related Kidney Disease |
|
Abnormality of the anterior pituitary, Pericarditis, Prostatitis, Lymphadenopathy, Lymphadenitis,... |
ORPHA:449395 |
| Lymphangioleiomyomatosis |
|
Chylopericardium, Abnormal morphology of female internal genitalia, Lymphadenopathy, Abnormality ... |
ORPHA:538 |
| Sarcoidosis, Susceptibility To, 1 |
|
Abnormal salivary gland morphology, Hepatomegaly, Mediastinal lymphadenopathy, Pericardial effusi... |
OMIM:181000 |
| Acute Promyelocytic Leukemia |
|
Lymphadenopathy, Metrorrhagia |
ORPHA:520 |
| Hyper-Igd Syndrome |
|
Lymphadenopathy, Lymphadenitis, Hepatosplenomegaly, Splenomegaly |
OMIM:260920 |
| Igg4-Related Ophthalmic Disease |
|
Abnormality of the anterior pituitary, Prostatitis, Lymphadenopathy, Thyroiditis, Sialadenitis, O... |
ORPHA:449563 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
