| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Epiphyseal dysplasia, Metaphyseal dysplasia, Hypospadias, Hypercalcemia, Adrenal hypoplasia, Decr... |
OMIM:614732 |
| Pseudohypoaldosteronism, Type Iic |
|
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia, Decreased circulating renin level |
OMIM:614492 |
| Thymic Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Hypercalcemia, Pituitary null cell adenoma, Neoplasm of th... |
ORPHA:97289 |
| Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia, Coxa valga |
OMIM:191420 |
| Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia, Aggressive behavior, Clinodactyly of the 5th finger, Clinodactyly of the 5t... |
OMIM:618010 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hypertriglyceridemia, Hepatomegaly |
OMIM:619175 |
| Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia |
OMIM:614491 |
| Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia |
OMIM:614495 |
| Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Oligozoospermia, Increased LDL cho... |
OMIM:615703 |
| Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia |
OMIM:614496 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Primary amenorrhea, Hepatosp... |
OMIM:612526 |
| Neutral Lipid Storage Disease With Myopathy |
|
Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Elevated circulating creatine kinase conce... |
OMIM:610717 |
| Granulomatous Slack Skin |
|
Hypercalcemia, Abnormal lymph node morphology |
ORPHA:33111 |
| Laryngeal Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Anorexia, Oral-pharyngeal dysphagia, Adrenocorticotropic h... |
ORPHA:100083 |
| Hyperparathyroidism 4 |
|
Primary hyperparathyroidism, Parathyroid carcinoma, Hypercalcemia |
OMIM:617343 |
| Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia, Hepatomegaly |
OMIM:232700 |
| Hyperparathyroidism 1 |
|
Primary hyperparathyroidism, Hypercalcemia |
OMIM:145000 |
| Niemann-Pick Disease, Type B |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increa... |
OMIM:607616 |
| Atherosclerosis Susceptibility |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:108725 |
| Rhabdoid Tumor |
|
Irritability, Hypercalcemia, Lymphadenopathy |
ORPHA:69077 |
| Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
| Parathyroid Carcinoma |
|
Hyperparathyroidism, Parathyroid carcinoma, Hypercalcemia |
OMIM:608266 |
| Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Primary gonadal insufficiency, Retinal detachment, Insulin-resistant diabetes mellitus, Hypertrig... |
ORPHA:436182 |
| Hepatic Venoocclusive Disease With Immunodeficiency |
|
Endocardial fibrosis, Absence of lymph node germinal center |
OMIM:235550 |
| Smith-Magenis Syndrome |
|
Retinal detachment, Hyperactivity, Hypertriglyceridemia, Abnormality of the thyroid gland, Synoph... |
OMIM:182290 |
| Oculoskeletodental Syndrome |
|
Hepatomegaly, Hypercalcemia, Splenomegaly, Cryptorchidism, Low anterior hairline, Low posterior h... |
OMIM:618440 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, L... |
OMIM:603552 |
| Hypophosphatasia |
|
Irritability, Bowing of the long bones, Abnormal metaphysis morphology, Hypercalcemia |
ORPHA:436 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Absent pubic hair,... |
ORPHA:90793 |
| Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Hypertriglyceridemia, Adrenal calcification, Splenomegaly, Hypercholesterolemia |
ORPHA:75234 |
| Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hepatomegaly, Hypercalcemia, Splenomegaly, Primary hyperparathyroidism, Elevated circ... |
OMIM:239200 |
| Vitamin D-Dependent Rickets, Type 3 |
|
Bowing of the legs, Flared metaphysis, Elevated circulating parathyroid hormone level, Hypocalcem... |
OMIM:619073 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating cortisol level, Ambiguous genitalia, female, Increased circulating renin le... |
ORPHA:90791 |
| Hyperparathyroidism 2 With Jaw Tumors |
|
Hyperparathyroidism, Pancreatic adenocarcinoma, Hypercalcemia, Hurthle cell thyroid adenoma, Para... |
OMIM:145001 |
| Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Infertility, Abnormal lymph node morphology |
OMIM:136580 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Type II diabetes mellitus |
OMIM:610947 |
| Hyperaldosteronism, Familial, Type I |
|
Adrenal hyperplasia, Hyperaldosteronism, Adrenogenital syndrome, Decreased circulating renin level |
OMIM:103900 |
| Blue Diaper Syndrome |
|
Abnormal circulating tryptophan concentration, Hypercalcemia |
OMIM:211000 |
| Hypertriglyceridemia 1 |
|
Hypopituitarism, Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
| Addison Disease |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Anorexia, Increa... |
ORPHA:85138 |
| Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Hyperparathyroidism, Hypercalcemia |
ORPHA:2668 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hepatomegaly, Hyperactivity, Hypertriglyceridemia |
OMIM:615924 |
| Alpha-Heavy Chain Disease |
|
Hepatomegaly, Alopecia, Splenomegaly, Lymphadenopathy, Hypocalcemia |
ORPHA:100025 |
| Hypertriglyceridemia, Transient Infantile |
|
Splenomegaly, Hypertriglyceridemia, Hepatomegaly |
OMIM:614480 |
| Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly |
OMIM:604765 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:179494 |
| Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Abnormal circulating renin, Hypokalemia, Dexamethasone-suppressible primary ... |
ORPHA:403 |
| Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Abnormal vagina morphology, Hypercalcemia |
ORPHA:2123 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Lymphadenopathy... |
OMIM:613101 |
| Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
| Squamous Cell Carcinoma Of The Esophagus |
|
Clinodactyly of the 5th toe, Lymphadenopathy |
ORPHA:99977 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypoparathyroidism, Hip contracture, Bowing of the long bones, Hypercalcemia, Metaphyseal chondro... |
OMIM:156400 |
| Familial Hyperaldosteronism Type Iii |
|
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:251274 |
| Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
| Familial Isolated Hyperparathyroidism |
|
Hypercalcemia, Primary hyperparathyroidism, Elevated circulating parathyroid hormone level, Hypop... |
ORPHA:99879 |
| Oculoskeletodental Syndrome |
|
Metaphyseal dysplasia, Hypercalcemia, Abnormality of the frontal hairline, Short 5th finger, Hypo... |
ORPHA:557003 |
| Fish-Eye Disease |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:136120 |
| Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:66628 |
| Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyponatremia, Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidis... |
OMIM:201810 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia |
ORPHA:366 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia, Abnormal heart morphology |
DECIPHER:16 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Hypercalcemia, Tapered finger, Unilateral radial aplasia, Complete atrioventricular canal defect,... |
ORPHA:476126 |
| Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hyperparathyroidism, Hypercalcemia |
OMIM:239199 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Arachnodactyly, Hepatosplenomegaly, Hypoalbuminemia, Hypopituitarism, Hypot... |
OMIM:619013 |
| Pseudohypoparathyroidism, Type Ib |
|
Short metacarpal, Pseudohypoparathyroidism, Hyperphosphatemia, Elevated circulating parathyroid h... |
OMIM:603233 |
| Temple Syndrome |
|
Hypertriglyceridemia, Maturity-onset diabetes of the young, Precocious puberty, Cryptorchidism, S... |
OMIM:616222 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Generalized lymphadenopathy, Splenomegaly, Hypertriglyceridemia |
OMIM:620282 |
| Hypophosphatasia, Infantile |
|
Elevated plasma pyrophosphate, Hypercalcemia, Micromelia, Bowing of the legs, Anorexia, Irritabil... |
OMIM:241500 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Polyphagia, Hypertriglyceridemia, Hyperinsulinemia, Type II diabetes mellitus |
ORPHA:71529 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hyperinsulinemia, Abnormal circulating hormone concentration, Polycystic ov... |
ORPHA:280356 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia, Hepatosplenomegaly |
OMIM:608898 |
| Hemochromatosis, Type 1 |
|
Hepatomegaly, Alopecia, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomeg... |
OMIM:235200 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Hypertriglyceridemia, Pericardial effusion, Increased circulating ferritin concentration, Hypopla... |
OMIM:619313 |
| Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
OMIM:616516 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hypercalcemia, Hyperphosphatemia, Elevated circulating parathyroid hormone level, Parathyroid hyp... |
OMIM:617994 |
| Pseudopseudohypoparathyroidism |
|
Short distal phalanx of the 3rd finger, Abnormality of the endocrine system, Short metatarsal, Hy... |
ORPHA:79445 |
| Familial Hyperaldosteronism Type Ii |
|
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:404 |
| Fibrous Dysplasia Of Bone |
|
Abnormal morphology of the radius, Bowing of the long bones, Hyperthyroidism, Precocious puberty ... |
ORPHA:249 |
| Hypoparathyroidism, Familial Isolated, 1 |
|
Hypoparathyroidism, Decreased circulating parathyroid hormone level, Irritability, Hyperphosphate... |
OMIM:146200 |
| Hyperaldosteronism, Familial, Type Iii |
|
Adrenal hyperplasia, Hypokalemia, Hyperaldosteronism, Polydipsia, Decreased circulating renin level |
OMIM:613677 |
| Blue Diaper Syndrome |
|
Decreased circulating T4 concentration, Hyperphosphatemia, Elevated circulating thyroid-stimulati... |
ORPHA:94086 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Adrenal hyperplasia, Ventricular septal defect, Abnormal circulating ren... |
ORPHA:369929 |
| Autosomal Recessive Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Small hand, Short foot, Cortical thickening o... |
ORPHA:93324 |
| Infantile Myofibromatosis |
|
Neoplasm of the pancreas, Abnormal metaphysis morphology, Abnormal hair morphology, Hypercalcemia |
ORPHA:2591 |
| Acute Adrenal Insufficiency |
|
Hyponatremia, Decreased circulating cortisol level, Decreased female libido, Salt craving, Hyperc... |
ORPHA:95409 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Abnormal o... |
ORPHA:90794 |
| Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Overgrowth of external genitalia, Hypertriglyceridemia, Precocious puberty in femal... |
ORPHA:528 |
| Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:205400 |
| Non-Functioning Paraganglioma |
|
Paraganglioma of head and neck, Hypertensive retinopathy, Hypercalcemia, Paraganglioma |
ORPHA:94080 |
| Hypocalcemia, Autosomal Dominant 2 |
|
Abnormal blood phosphate concentration, Hypocalcemia |
OMIM:615361 |
| Mantle Cell Lymphoma |
|
Splenomegaly, Anorexia, Lymphadenopathy |
ORPHA:52416 |
| Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Hypoparathyroidism, Decreased circulating cortisol level, Premature ovarian insuffi... |
ORPHA:199299 |
| Multiple Endocrine Neoplasia, Type I |
|
Hypercalcemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, ... |
OMIM:131100 |
| Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Elevated circulating parathyroid hormone level, Hypocalcemia, Pseudohypoparath... |
OMIM:203330 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Pulmonary Nodular Lymphoid Hyperplasia |
|
Mediastinal lymphadenopathy, Follicular hyperplasia |
ORPHA:60026 |
| Hypercalcemia, Infantile, 2 |
|
Hypercalcemia, Hypophosphatemia |
OMIM:616963 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Hypercalcemia, Increased blood urea nitrogen, Abnormal retinal morphology on macular OCT, Delayed... |
ORPHA:251004 |
| Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hyperparathyroidism, Hypercalcemia, Parathyroid hyperplasia, Elevated circulating parathyroid hor... |
OMIM:612089 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia, Hepatomegaly |
OMIM:300635 |
| Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
| Hypercalcemia, Infantile, 1 |
|
Hypercalcemia, Decreased circulating parathyroid hormone level |
OMIM:143880 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa... |
OMIM:267700 |
| Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
Adrenal hyperplasia, Decreased circulating ACTH concentration, Depression, Increased circulating ... |
OMIM:219080 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Hypochloremia, Hypokalemia, Hyperactive renin-angiotensin system, Increased circula... |
OMIM:214700 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Bulging epiphyses, Bowing of the legs, Subperiosteal bone resorption, Delayed epiphyseal ossifica... |
OMIM:264700 |
| Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Alopecia, Diabetes mellitus, Adrenal hyperplasia, Depression, Increased circulating cortisol leve... |
OMIM:615830 |
| Grfoma |
|
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone concen... |
ORPHA:97261 |
| Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hepatomegaly... |
ORPHA:247585 |
| Primary Unilateral Adrenal Hyperplasia |
|
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, Polydips... |
ORPHA:231580 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, M... |
ORPHA:90790 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Decreased fertility, Testicular atrophy, Elevated circulating creatine kinase concentration, Dysp... |
OMIM:313200 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility, Parathyroid agenesis, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Congenit... |
ORPHA:2239 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the vagina, Clitoral hypertrophy, Congenital adrenal hyperplasia, Ambiguous genital... |
OMIM:202010 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Cardiomegaly, Congenital hypothyroidism |
ORPHA:88643 |
| Progressive Familial Intrahepatic Cholestasis |
|
Splenomegaly, Hypocalcemia, Hepatomegaly |
ORPHA:172 |
| Pseudohypoparathyroidism, Type Ic |
|
Short metacarpal, Elevated circulating thyroid-stimulating hormone concentration, Short metatarsa... |
OMIM:612462 |
| Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Elevated circulating creatine kinase concentration |
OMIM:615883 |
| Lipase Deficiency, Combined |
|
Hypertriglyceridemia, Type II diabetes mellitus |
OMIM:246650 |
| Hereditary Progressive Mucinous Histiocytosis |
|
Lymphadenopathy |
ORPHA:158025 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Dysmenorrhea, Maternal diabetes, Splenomeg... |
ORPHA:79083 |
| Paget Disease Of Bone 2, Early-Onset |
|
Bowing of the long bones, Short femur, Hypercalcemia, Fractures of the long bones, Femoral bowing... |
OMIM:602080 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Hypertensive retinopathy, Pheochromocytoma, Hypercalcemia |
OMIM:171420 |
| Ppoma |
|
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone concen... |
ORPHA:97278 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Alopecia, Abnormal response to corticotropin releasing hormone ... |
ORPHA:189427 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:300971 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Irregula... |
OMIM:615238 |
| Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
| Reni Syndrome |
|
Hypertriglyceridemia, Cryptorchidism, Hypoalbuminemia, Adrenal insufficiency, Hypogonadism, Micro... |
OMIM:617575 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... |
ORPHA:95699 |
| Lipoid Congenital Adrenal Hyperplasia |
|
Congenital adrenal hyperplasia, Hypospadias, Adrenogenital syndrome |
OMIM:201710 |
| Multiple Endocrine Neoplasia Type 1 |
|
Anorexia, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic e... |
ORPHA:652 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin-resista... |
OMIM:604367 |
| Somatostatinoma |
|
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Hypercalcemia, Elevated circulating gr... |
ORPHA:97283 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypercalcemia, Primary hyperparathyroidism, Hypermagnesemia, Depression, Hypophosphatemia |
OMIM:600740 |
| Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy |
OMIM:616126 |
| Vipoma |
|
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Hypercalcemia, Follicular thyroid carc... |
ORPHA:97282 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Hypertriglyceridemia, Hyperlipidemia, Hyperinsulinemia, Increased serum leptin, Polyphagia |
OMIM:617885 |
| Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Ambiguous genitalia, Congenital adrenal hyperplasia, Increased circulating ACTH level |
OMIM:613571 |
| Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Splenomegaly, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration |
OMIM:619658 |
| Kennedy Disease |
|
Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Abnormal circulating lipid ... |
ORPHA:481 |
| Monosomy 13Q34 |
|
Metrorrhagia, Hypercalcemia, Postaxial hand polydactyly, Postaxial foot polydactyly, Horizontal e... |
ORPHA:96168 |
| Hypoparathyroidism, Familial Isolated, 2 |
|
Decreased circulating parathyroid hormone level, Hyperphosphatemia, Hypocalcemia, Hypocalcemic se... |
OMIM:618883 |
| Hypocalciuric Hypercalcemia, Familial, Type I |
|
Parathyroid adenoma, Hyperparathyroidism, Hypermagnesemia, Hypercalcemia |
OMIM:145980 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Elevated creatine kinase after exercise, Hypercalcemia |
ORPHA:284426 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Dysmenorrhea, Splenomegaly, Secondary amen... |
ORPHA:2348 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Retinal detachment, Short humerus, Small scrotum, Hypospadias, Rhizomelia, Short femur, Sandal ga... |
OMIM:607143 |
| 2P21 Microdeletion Syndrome |
|
Long eyelashes, Hypogonadism, Hypocalcemia |
ORPHA:163693 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increased circulatin... |
ORPHA:158057 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypertensive retinopathy, Hypercal... |
ORPHA:276621 |
| Alstrom Syndrome |
|
Cone/cone-rod dystrophy, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceride... |
OMIM:203800 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Decreased... |
ORPHA:435660 |
| Pseudohypoparathyroidism Type 1C |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:79444 |
| Zollinger-Ellison Syndrome |
|
Increased urinary cortisol level, Hyperparathyroidism, Hypercalcemia, Pituitary null cell adenoma... |
ORPHA:913 |
| Smith-Magenis Syndrome |
|
Retinal detachment, Hypertriglyceridemia, Toe syndactyly, Precocious puberty, Abnormal repetitive... |
ORPHA:819 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... |
ORPHA:52901 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Hallux valgus, Dislocation of toes, Congenital hip dislocation, Left atr... |
OMIM:300280 |
| Dahlberg-Borer-Newcomer Syndrome |
|
Hypoparathyroidism, Brachydactyly, Mitral valve prolapse, Hypocalcemia, Hypothyroidism, Generaliz... |
ORPHA:1563 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Frontal balding, Precocious puberty, Incre... |
ORPHA:786 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Hyperinsulinemia, Generalized hirsutism |
ORPHA:363400 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia, Precocious puberty, Upper limb undergrow... |
ORPHA:369837 |
| Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... |
OMIM:207750 |
| Autoimmune Hypoparathyroidism |
|
Autoimmune hypoparathyroidism, Depression, Irritability, Hyperphosphatemia, Hypocalcemia, Hypocal... |
ORPHA:36913 |
| Lipodystrophy, Familial Partial, Type 4 |
|
Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Oligomenorrhea |
OMIM:613877 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Decreased response to growth hormone stimulation test, Decreased circulating parathyroid hormone ... |
OMIM:241410 |
| Roifman Syndrome |
|
Noncompaction cardiomyopathy, Hip contracture, Epiphyseal dysplasia, Retinal dystrophy, Hypogonad... |
ORPHA:353298 |
| Glucagonoma |
|
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Hypercalcemia, Elevated circulating gr... |
ORPHA:97280 |
| Autoimmune Polyendocrinopathy Type 1 |
|
Hypoparathyroidism, Alopecia, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circul... |
ORPHA:3453 |
| Maternal Uniparental Disomy Of Chromosome 6 |
|
Hydrocele testis, Slender long bone, Increased serum testosterone level, Rod-cone dystrophy, Cong... |
ORPHA:96181 |
| Pseudohypoparathyroidism Type 2 |
|
Calcinosis, Pseudohypoparathyroidism, Hyperphosphatemia, Elevated circulating parathyroid hormone... |
ORPHA:94090 |
| Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Primary hyperparathyroidism, Hypermagnesemia, Hypercalcemia |
OMIM:145981 |
| Burkitt Lymphoma |
|
Abnormality of the spleen, Abnormality of the ovary, Hyperuricemia, Abnormal lymph node morphology |
ORPHA:543 |
| Cholesteryl Ester Storage Disease |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Adrenal calcificatio... |
OMIM:278000 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:245900 |
| Timothy Syndrome |
|
Ventricular septal defect, Cardiomegaly, Hypothyroidism, Cutaneous syndactyly, Hypocalcemia, Tetr... |
OMIM:601005 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Pancreatic adenocarcinoma, Hypercalcemia, Testicular neoplasm, Primary hyperparathyroidism, Abnor... |
ORPHA:99880 |
| Kerion Celsi |
|
Alopecia, Lymphadenopathy |
ORPHA:499 |
| H Syndrome |
|
Hallux valgus, Abnormal eyebrow morphology, Alopecia, Hypertriglyceridemia, Diabetes mellitus, Hy... |
ORPHA:168569 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Hepatomegaly, Insulin-resistant diabetes mellitus, Hypertriglyceridemia |
OMIM:608600 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Ventricular septal defect, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymph... |
OMIM:235255 |
| Uremic Pruritus |
|
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Depression, Increased blood urea nitrogen |
ORPHA:94059 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Pancreatic lymphangiectasis, Cryptorchidis... |
ORPHA:1655 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, S... |
OMIM:603553 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Insulin-... |
ORPHA:79085 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Cryptorchidism, Male hypogonadism |
OMIM:615381 |
| Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Hypercalcemia, Testicular neoplasm, Primary hyperparathyroidism, Abnor... |
ORPHA:143 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... |
OMIM:615558 |
| Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Fair hair, Metaphyseal i... |
OMIM:269920 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Pericardial effusion, Cryptorchidism, Elevated circulating th... |
OMIM:618183 |
| Adenocarcinoma Of The Esophagus |
|
Clinodactyly of the 5th toe, Lymphadenopathy |
ORPHA:99976 |
| Seckel Syndrome 10 |
|
Ventricular hypertrophy, Retinal detachment, Hypertriglyceridemia, Diabetes mellitus, Elevated he... |
OMIM:617253 |
| Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Male pseudohermaphroditism, Adrenogenital syndrome, Primary amenorrhea, Ambi... |
OMIM:202110 |
| Familial Papillary Or Follicular Thyroid Carcinoma |
|
Chronic noninfectious lymphadenopathy, Follicular thyroid carcinoma, Abnormal lymph node morpholo... |
ORPHA:319487 |
| Glycogen Storage Disease Ixc |
|
Splenomegaly, Hypertriglyceridemia, Bile duct proliferation, Hepatomegaly |
OMIM:613027 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Abnormal metacarpophalangeal joint morphology, Diabetes mellitus, Hypogonadotropic ... |
ORPHA:465508 |
| Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Decreased response to growth hormone stimulation test, Cortical subperiosteal resorpt... |
ORPHA:94089 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Irregular, rachitic-like metaphyses, Subperiosteal bone resorption, Delayed epiphyseal ossificati... |
ORPHA:289157 |
| Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Hypospadias, Adrenogenital syndrome |
OMIM:201910 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Alopecia, Hyperparathyroidism, Coarse metaphyseal trabecularization, Genu valgum, Hypocalcemia, A... |
ORPHA:93160 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypertensive retinopathy, Hypercal... |
ORPHA:29072 |
| Macrophage Activation Syndrome |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increa... |
ORPHA:158061 |
| Double Outlet Right Ventricle |
|
Hypoparathyroidism, Ventricular septal defect, Double outlet right ventricle, Hypoplastic left he... |
ORPHA:3426 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bulging epiphyses, Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bo... |
OMIM:600081 |
| Kenny-Caffey Syndrome, Type 1 |
|
Hypomagnesemia, Small hand, Short foot, Slender long bone, Hypocalcemia, Short palm, Congenital h... |
OMIM:244460 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Hyperaldosteronism |
OMIM:613090 |
| Small Cell Carcinoma Of The Bladder |
|
Hypercalcemia |
ORPHA:284400 |
| Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Papillary thyroid carcinom... |
ORPHA:97290 |
| Immunodeficiency 27A |
|
Hypoplasia of the femoral head, Anorexia, Splenomegaly, Enlarged mesenteric lymph node, Lymphaden... |
OMIM:209950 |
| Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Hyperparathyroidism, Increased serum prostaglandin E2, Hypercalcemia, Hypochlor... |
OMIM:601678 |
| Roifman Syndrome |
|
Hepatomegaly, Noncompaction cardiomyopathy, Short metacarpal, Retinal dystrophy, Ventricular sept... |
OMIM:616651 |
| Xp21 Deletion Syndrome |
|
Hypertriglyceridemia, Hypogonadotropic hypogonadism, Elevated circulating creatine kinase concent... |
ORPHA:261476 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Insulin-... |
ORPHA:435651 |
| Protoporphyria, Erythropoietic, 1 |
|
Cholelithiasis, Hypertriglyceridemia |
OMIM:177000 |
| Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Increased circulating cortisol level, Adrenal hyperplasia |
OMIM:614190 |
| Albers-Schönberg Osteopetrosis |
|
Optic atrophy, Genu valgum, Hypocalcemia, Abnormal epiphysis morphology, Abnormal metacarpal morp... |
ORPHA:53 |
| Hypotonia-Cystinuria Syndrome |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Long eyela... |
OMIM:606407 |
| Multiple Endocrine Neoplasia Type 2 |
|
Paraganglioma of head and neck, Cervical neoplasm, Hypercalcemia, Thyroid C cell hyperplasia, Cer... |
ORPHA:653 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Abnormality of the lymphatic system, Abnormal testis morphology, Elevated circulating C-reactive ... |
ORPHA:54251 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Decreased circulating parathyroid hormone level, Hypokalemia, Hyperphosphatemia, Increased circul... |
OMIM:601198 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Optic disc pallor, Cardiomegaly, Hyperprolinemia, Perimembranous ventricular septal defect, Hyper... |
OMIM:619170 |
| Intermediate Osteopetrosis |
|
Erlenmeyer flask deformity of the femurs, Hypocalcemia, Optic atrophy from cranial nerve compress... |
ORPHA:210110 |
| Multiple Myeloma |
|
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Lymphadenopathy, Hype... |
ORPHA:29073 |
| Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypertriglyceridemia, Hypospadias, External genital hypoplasia, Ovotestis, Nail dystrophy, Ambigu... |
OMIM:610644 |
| Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Abnormal digit morphology, Aggressive beh... |
ORPHA:208441 |
| Pseudohypoparathyroidism Type 1A |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:79443 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa... |
OMIM:620135 |
| Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Dilated cardiomyopathy, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
| Papular Xanthoma |
|
Hyperlipidemia |
ORPHA:158008 |
| Familial Chylomicronemia Syndrome |
|
Hypertriglyceridemia, Diabetes mellitus, Hyperlipidemia, Hepatosplenomegaly, Depression, Abnormal... |
ORPHA:444490 |
| Immunodeficiency 104 |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
OMIM:608971 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Dysmenorrhea, Elevated circulating creatine kinase concentrat... |
ORPHA:264580 |
| Gracile Bone Dysplasia |
|
Asplenia, Flared metaphysis, Micropenis, Slender long bone, Hypocalcemia, Hypoplastic spleen, Bra... |
OMIM:602361 |
| Reticuloendotheliosis, X-Linked |
|
Hepatosplenomegaly, Lymphadenopathy |
OMIM:312500 |
| Congenital Toxoplasmosis |
|
Hepatomegaly, Abnormality of retinal pigmentation, Cardiomegaly, Lymphadenopathy |
ORPHA:858 |
| Pheochromocytoma |
|
Hypertensive retinopathy, Pheochromocytoma, Hypercalcemia |
OMIM:171300 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Depression, Increased... |
OMIM:615954 |
| Glycogen Storage Disease Iii |
|
Ventricular hypertrophy, Hepatomegaly, Elevated circulating creatine kinase concentration, Hyperl... |
OMIM:232400 |
| Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, D... |
ORPHA:280365 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
| Sanjad-Sakati Syndrome |
|
Hypoparathyroidism, Hypoplasia of penis, Cryptorchidism, Small hand, Short foot, Hyperphosphatemi... |
ORPHA:2323 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Hepatomegaly, Alopecia, Generalized lymphadenopathy, Elevated circulating C-reactive protein conc... |
OMIM:615559 |
| Immunodeficiency 97 With Autoinflammation |
|
Hypertriglyceridemia, Increased circulating ferritin concentration, Mediastinal lymphadenopathy, ... |
OMIM:619802 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperlipidemia, Hyperinsulinemia, Polyphagia, Aggressive behavior |
ORPHA:329249 |
| Bartter Syndrome Type 4 |
|
Hyponatremia, Hypochloremia, Hypokalemia, Hyperactive renin-angiotensin system, Increased circula... |
ORPHA:89938 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Dysmenorrhea, Elevated circulating creatine kinase concentrat... |
ORPHA:79240 |
| Werner Syndrome |
|
Diabetes mellitus, Hypertriglyceridemia, Elevated hemoglobin A1c, Hypogonadism, Alopecia of scalp... |
OMIM:277700 |
| T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:618398 |
| Mandibuloacral Dysplasia |
|
Alopecia, Hypertriglyceridemia, Increased circulating free fatty acid level, Insulin-resistant di... |
ORPHA:2457 |
| Hyperlipoproteinemia, Type Id |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Decrea... |
OMIM:615947 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Hepatomegaly, Hypertriglyceridemia, Elevated hemoglobin A1c, Decreased serum leptin, Decreased fe... |
OMIM:269700 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Decreased circulating cortisol level, Elevated circulating creatine kinase concentration, Cardiom... |
OMIM:618838 |
| Familial Isolated Hypoparathyroidism |
|
Hypoparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration, Hypo... |
ORPHA:2238 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th... |
OMIM:602782 |
| Refsum Disease, Classic |
|
Short fourth metatarsal, Cardiomegaly, Elevated circulating phytanic acid concentration, Cardiomy... |
OMIM:266500 |
| Velocardiofacial Syndrome |
|
Hypoparathyroidism, Ventricular septal defect, Aggressive behavior, Cryptorchidism, Hypocalcemia,... |
OMIM:192430 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Hepatomegaly, Abnorm... |
ORPHA:247598 |
| Glucose-Galactose Malabsorption |
|
Hypernatremia, Hypercalcemia |
ORPHA:35710 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Cardiomegaly |
OMIM:300886 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Hepatomegaly, Splenomegaly, Anorexia, Lymphadenopathy |
ORPHA:86893 |
| Abdominal Obesity-Metabolic Syndrome 4 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Increased... |
OMIM:618620 |
| Pseudohypoparathyroidism, Type Ia |
|
Short metacarpal, Short toe, Short metatarsal, Pseudohypoparathyroidism, Hyperphosphatemia, Eleva... |
OMIM:103580 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Macro... |
ORPHA:3077 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, L... |
ORPHA:540 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Femur fracture, Splenomegaly, Optic atrophy, Flared metaphysis, Coxa vara, Hypocalc... |
OMIM:259700 |
| Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal widening, Flared ... |
ORPHA:2502 |
| Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Elevated circulating C-reactive protein concentration, Hepatosplenomegaly, Lymphadenopathy, Eleva... |
OMIM:619750 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Equinus calcaneus, Pigmentary retinopathy, Cardiomyopathy, Hypocalcemia, Left... |
ORPHA:746 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... |
OMIM:600649 |
| Hsd10 Disease, Infantile Type |
|
Restlessness, Cardiomegaly, Optic atrophy, Hyperammonemia, Dysphagia, Hypertrophic cardiomyopathy... |
ORPHA:391428 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Alopecia, Anorexia, Clubbing, Hypokalemia, Clubbing of fingers, Nail dystrophy, Hypocalcemia, Hyp... |
OMIM:175500 |
| Tangier Disease |
|
Orange discolored tonsils, Hypertriglyceridemia, Chronic noninfectious lymphadenopathy, Hepatospl... |
ORPHA:31150 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Hallux valgus, Alopecia, Diabetes mellitus, Hypertriglyceridemia, Arachnodactyly, Sandal gap, Equ... |
ORPHA:536532 |
| Immunodeficiency 75 With Lymphoproliferation |
|
Hepatosplenomegaly, Lymphadenopathy, Follicular hyperplasia |
OMIM:619126 |
| Kenny-Caffey Syndrome, Type 2 |
|
Hypoparathyroidism, Transient hypophosphatemia, Papilledema, Retinal calcification, Hyperphosphat... |
OMIM:127000 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:85450 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomeg... |
OMIM:613327 |
| Hyperlipoproteinemia, Type I |
|
Splenomegaly, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulating chylomi... |
OMIM:238600 |
| Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatomegaly, Hyperlipidemia, Irritability, Delayed puberty, Hypertrophic cardiomyopathy |
ORPHA:369 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Hyperaldosteronism, Polydipsia |
OMIM:602522 |
| Igg4-Related Thyroid Disease |
|
Nodular goiter, Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland... |
ORPHA:64744 |
| Wolfram Syndrome 1 |
|
Diabetes mellitus, Diabetes insipidus, Optic atrophy, Limited mobility of proximal interphalangea... |
OMIM:222300 |
| Familial Cold Autoinflammatory Syndrome 2 |
|
Splenomegaly, Elevated circulating C-reactive protein concentration, Lymphadenopathy |
OMIM:611762 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Optic atrophy, Hyperammonemia, Hyperalaninemia, Hypertrophic ... |
OMIM:614702 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Decreased serum leptin, Decreased fertilit... |
OMIM:608594 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Decreased HDL cholesterol concentration, Decreased serum insulin-like growth factor 1, Hypertrigl... |
ORPHA:77293 |
| Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy |
OMIM:241100 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Cardiomegaly, Synophrys, Hyperprolinemia, Long eyelashes, Hyperalaninemia |
OMIM:619064 |
| Cartilage-Hair Hypoplasia |
|
Micromelia, Metaphyseal chondrodysplasia, Tibial bowing, Hypocalcemia, Short palm, Sparse hair, H... |
ORPHA:175 |
| 19P13.12 Microdeletion Syndrome |
|
Finger syndactyly, Toe clinodactyly, Hyperactivity, Hypospadias, Ventricular septal defect, Sanda... |
ORPHA:254346 |
| Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Hypochloremia, Hypokalemia, Hyperactive renin... |
OMIM:241200 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Atrial septal defect,... |
OMIM:250220 |
| Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Dilated cardiomyopathy,... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Dilated cardiomyopathy,... |
ORPHA:98853 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Dilated cardiomyopathy, Hypertriglyceridemia, Elevated c... |
ORPHA:98855 |
| Microtriplication 11Q24.1 |
|
Metatarsus adductus, Hyperlipidemia, Synophrys, Small hand, Genu valgum, Short foot, Long eyelash... |
ORPHA:289522 |
| Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
| Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Polycy... |
ORPHA:79086 |
| Williams Syndrome |
|
Hypoplasia of penis, Bicuspid aortic valve, Elevated circulating creatine kinase concentration, C... |
ORPHA:904 |
| Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Decreased serum iron, Lymphadenopathy |
OMIM:212050 |
| Primary Intestinal Lymphangiectasia |
|
Pericardial effusion, Abnormal lymphatic vessel morphology, Hypoalbuminemia, Hypocalcemia, Hypoma... |
ORPHA:90362 |
| Refractory Celiac Disease |
|
Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia, Abnormal spleen... |
ORPHA:398063 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Diabetes mellitus, Septate vagina, Uterus didelphys, Parathyroid hypoplasia, ... |
ORPHA:2237 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Ventricular septal defect, Elevated circulating creatine kinase concentration, Incr... |
ORPHA:26793 |
| Griscelli Syndrome Type 2 |
|
Hepatomegaly, Hypopigmentation of hair, Splenomegaly, Hyperlipidemia, Lymphadenopathy, Premature ... |
ORPHA:79477 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Lymphadenopathy, Finger swelling |
OMIM:617591 |
| Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, C... |
OMIM:212140 |
| Craniofacioskeletal Syndrome |
|
Absent gallbladder, Hypospadias, Ventricular septal defect, Cryptorchidism, Small hand, Short foo... |
OMIM:300712 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Hypertrophic cardiomyopathy, Hypertriglyceridemia, Eleva... |
ORPHA:98863 |
| Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Hyperactivity, Cardiomegaly, Aggressive behavior, Splenomegaly, Synophrys, Asymmetr... |
OMIM:252920 |
| Lysinuric Protein Intolerance |
|
Hyperalaninemia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Hyp... |
ORPHA:470 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, T... |
OMIM:255120 |
| Fanconi-Bickel Syndrome |
|
Hepatomegaly, Bowing of the long bones, Diabetes mellitus, Hypertriglyceridemia, Hypophosphatemia |
ORPHA:2088 |
| Ring Chromosome 10 Syndrome |
|
Sandal gap, Hypocalcemia, Tapered finger |
ORPHA:1438 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Elevated circulating C-reactive protein concentration, C... |
OMIM:256040 |
| Hydrolethalus Syndrome 1 |
|
Accessory spleen, Hypospadias, Ventricular septal defect, Bifid uterus, Complete atrioventricular... |
OMIM:236680 |
| Kimura Disease |
|
Abnormal salivary gland morphology, Lymphadenopathy, Follicular hyperplasia |
ORPHA:482 |
| Systemic-Onset Juvenile Idiopathic Arthritis |
|
Hepatomegaly, Pericarditis, Elevated circulating C-reactive protein concentration, Splenomegaly, ... |
ORPHA:85414 |
| Immunodeficiency 54 |
|
Hepatomegaly, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopathy, Adrenal insuffic... |
OMIM:609981 |
| Cantu Syndrome |
|
Bicuspid aortic valve, Broad hallux, Curly eyelashes, Cardiomegaly, Pericardial effusion, Short h... |
OMIM:239850 |
| Aarskog-Scott Syndrome |
|
Short palm, Hyperextensibility of the finger joints, Syndactyly, Elevated circulating luteinizing... |
OMIM:305400 |
| Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:650 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Long toe, Absent gallbladder, Hyperextensibility of the finger joints, Hypospadias, Ventricular s... |
ORPHA:163979 |
| 46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Ventricular septal defect, Hypospadias, Ovotestis, Sex reversal, Adrenal gland agenesis |
OMIM:611812 |
| X-Linked Agammaglobulinemia |
|
Alopecia, Abnormality of the lymphatic system, Hypocalcemia, Abnormality of the tonsils |
ORPHA:47 |
| Cinca Syndrome |
|
Papilledema, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Hepatospleno... |
OMIM:607115 |
| Pearson Syndrome |
|
Hypoparathyroidism, Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Decreased response to g... |
ORPHA:699 |
| Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration |
ORPHA:140905 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Ventricular septal defect, Macular atrophy,... |
OMIM:619418 |
| Leishmaniasis |
|
Hepatomegaly, Anorexia, Splenomegaly, Lymphadenopathy, Hypoalbuminemia |
ORPHA:507 |
| Attrv30M Amyloidosis |
|
Cardiomyopathy, Impotence, Cardiomegaly, Vitreous floaters |
ORPHA:85447 |
| Cholestasis-Lymphedema Syndrome |
|
Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, Hepatomegaly |
OMIM:214900 |
| Griscelli Syndrome Type 1 |
|
Premature graying of hair, Hyperlipidemia, White hair, Retinopathy |
ORPHA:79476 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Radial deviation... |
OMIM:300106 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Short femur, Cardiomegaly, Glandular hypospadias, Abnormal circulating ceruloplasmin concentratio... |
OMIM:620306 |
| Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atrial septal defect, Patent f... |
OMIM:618652 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Elevated plasma citrulline, Hypertriglyceridemia, Hyperargininemia, Hyperammonemia |
OMIM:603471 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Alopecia, Hyperthyroidism, Abnormality of the endocrine system, Splenomegaly, Abnormal blood ion ... |
ORPHA:37042 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... |
ORPHA:567548 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Papilledema, Stenosis of the medullary cavity of the long bones, Thin long bone diaphyses, Retina... |
ORPHA:93325 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hyperch... |
OMIM:615812 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Metaphyseal widening, Optic atrophy, Diaphyseal sclerosis, Long eyelashes, Hypocalcemia, Inapprop... |
OMIM:618476 |
| Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, I... |
ORPHA:412 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Genital ulcers, Splenomegaly, L... |
OMIM:602450 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... |
OMIM:605814 |
| Heme Oxygenase 1 Deficiency |
|
Hepatomegaly, Elevated circulating C-reactive protein concentration, Asplenia, Increased circulat... |
OMIM:614034 |
| Atypical Werner Syndrome |
|
Abnormal hair whorl, Fasting hyperinsulinemia, Premature graying of hair, Finger clinodactyly, Sh... |
ORPHA:79474 |
| Thyroid Lymphoma |
|
Hyperthyroidism, Lymphadenopathy, Dysphagia, Hypothyroidism, Hashimoto thyroiditis, Goiter |
ORPHA:97285 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Bowing of the long bones, Abnormal pulmonary valve morphology, Abnormality of hair ... |
ORPHA:667 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Sparse hair, Syndactyly, Cardiomegaly |
OMIM:613576 |
| Oncogenic Osteomalacia |
|
Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Abnormal femur morphology, Abno... |
ORPHA:352540 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Optic disc pallor, Hepatomegaly, Splenomegaly, Optic atrophy, Flared metaphysis, Hepatosplenomega... |
OMIM:259720 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Epiphyseal dysplasia, Congenital hip dislocation, Splenomegaly, Optic a... |
OMIM:617913 |
| Chédiak-Higashi Syndrome |
|
Hyponatremia, Abnormality of retinal pigmentation, Hypopigmentation of hair, Hypertriglyceridemia... |
ORPHA:167 |
| Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Splenomegaly, Lymphadenopathy |
ORPHA:444463 |
| Pseudo-Torch Syndrome 3 |
|
Increased circulating ferritin concentration, Lymphadenitis, Cardiomegaly |
OMIM:618886 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Cardiomegaly, Hyperammonemia, Hyperalaninemia, Hypertrophic cardiomyopathy |
OMIM:619051 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
| Fish-Eye Disease |
|
Splenomegaly, Decreased HDL cholesterol concentration, Hepatomegaly, Lymphadenopathy |
ORPHA:79292 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:308700 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Bowing of the legs, Hypocalcemia, Hypophosphatemia |
ORPHA:89937 |
| Mogs-Cdg |
|
Atrial septal defect, Hepatomegaly, Alopecia, Fair hair, External genital hypoplasia, Cardiomegal... |
ORPHA:79330 |
| Poems Syndrome |
|
Papilledema, Diabetes mellitus, Abnormality of the endocrine system, Pericardial effusion, Metaph... |
ORPHA:2905 |
| Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
| Chylomicron Retention Disease |
|
Hypertriglyceridemia, Retinopathy, Steatorrhea, Hypocholesterolemia |
ORPHA:71 |
| Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Hepatomegaly, Alopecia, Hypertriglyceridemia, Cardiomyopathy, Abnormal circulating creatine kinas... |
ORPHA:98907 |
| Mulibrey Nanism |
|
Hepatomegaly, Cardiomegaly, Myocardial fibrosis, Pigmentary retinopathy, Pericardial constriction... |
OMIM:253250 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, D... |
ORPHA:42 |
| Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... |
ORPHA:99889 |
| Griscelli Syndrome |
|
Hepatomegaly, Abnormal eyebrow morphology, Abnormal eyelash morphology, Splenomegaly, Silver-gray... |
ORPHA:381 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Labial pseudohypertr... |
OMIM:151660 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Diabetes mellitus, Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating... |
OMIM:615980 |
| Cinca Syndrome |
|
Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, Retrobulbar op... |
ORPHA:1451 |
| Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Left atrial enlargement, Cardiomegal... |
ORPHA:57777 |
| Glycerol Kinase Deficiency |
|
Adrenocortical hypoplasia, Hypertriglyceridemia, Hyperglycerolemia, Cryptorchidism, Adrenal insuf... |
OMIM:307030 |
| Sarcoidosis |
|
Hepatomegaly, Alopecia, Hyperthyroidism, Diabetes insipidus, Hypercalcemia, Abnormal reproductive... |
ORPHA:797 |
| Neuraminidase Deficiency |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy, Epiphyseal stippling, Cherry red spot o... |
OMIM:256550 |
| Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Adrenal calcification, Hypersplenism, Hyperkalemia, Primary a... |
ORPHA:275761 |
| Williams-Beuren Syndrome |
|
Bicuspid aortic valve, Premature graying of hair, Early onset of sexual maturation, Clinodactyly ... |
OMIM:194050 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Cardiomyopathy, L... |
OMIM:617713 |
| Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Hepatosplenomegaly, Clubbing of fingers, Lymphadenopathy |
OMIM:618982 |
| Immunodeficiency With Hyper-Igm, Type 5 |
|
Epididymitis, Lymphadenopathy |
OMIM:608106 |
| Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Elevated circulating C-reactive protein concentration, Pericardial effusion, Spleno... |
OMIM:613011 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Ventricular hypertrophy, Absent eyebrow, Mitral valve calcification, Hypertriglyceridemia, Absent... |
ORPHA:363618 |
| Charge Syndrome |
|
Decreased response to growth hormone stimulation test, External genital hypoplasia, Secundum atri... |
OMIM:214800 |
| Cushing Disease |
|
Increased urinary cortisol level, Sparse scalp hair, Adrenal hyperplasia, Diabetes mellitus, Para... |
ORPHA:96253 |
| Colchicine Poisoning |
|
Hyponatremia, Alopecia, Myocarditis, Abnormal blood ion concentration, Hypophosphatemia, Hypokale... |
ORPHA:31824 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, Lymphadenopath... |
OMIM:308240 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Clinodactyly of the 5th finger, Syndactyly, Toe syndactyly, Testicular atrophy |
OMIM:601163 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Cardiomegaly, Abnormal thumb morphology, Abnormal atrioventricular valve morphology, Mitral valve... |
ORPHA:324410 |
| Medullary Thyroid Carcinoma |
|
Primary hyperparathyroidism, Dysphagia, Lymphadenopathy, Pheochromocytoma, Elevated circulating c... |
ORPHA:1332 |
| Aromatase Deficiency |
|
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... |
ORPHA:91 |
| Carcinoid Syndrome |
|
Chronic noninfectious lymphadenopathy, Pulmonary carcinoid tumor, Small intestine carcinoid, Abno... |
ORPHA:100093 |
| Celiac Disease, Susceptibility To, 1 |
|
Alopecia, Thyroiditis, Steatorrhea, Depression, Infertility, Hypocalcemia, Delayed puberty, Type ... |
OMIM:212750 |
| Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Hepatomegaly, Testicular neoplasm, Mediastinal lymphadenopathy, Ovarian... |
ORPHA:83469 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Cholesterol ... |
ORPHA:209902 |
| Attrv122I Amyloidosis |
|
Increased circulating NT-proBNP concentration, Cardiomegaly, Hypertrophic cardiomyopathy, Aortic ... |
ORPHA:85451 |
| Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:66661 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Clinodactyly, Brachydactyly, Elevated circulating C-reactive protein concentration, Lymphadenopathy |
OMIM:618048 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Splenomegaly, Mediastinal lymphadenopathy, Cervical lymphadenopathy, Lymphadenopathy, Hepatosplen... |
OMIM:618534 |
| Myotonic Dystrophy 1 |
|
Frontal balding, Hypogonadism, Dysphagia, Cholelithiasis, Obsessive-compulsive trait, Testicular ... |
OMIM:160900 |
| Omenn Syndrome |
|
Hepatomegaly, Alopecia, Splenomegaly, Lymphadenopathy, Hypoplasia of the thymus, Hypoproteinemia |
OMIM:603554 |
| Cranioectodermal Dysplasia 1 |
|
Hepatomegaly, Brachydactyly, Broad toe, Bicuspid aortic valve, Retinal dystrophy, Short nail, Slo... |
OMIM:218330 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Short femur, Ventricular septal defect, Hypospadias, Fractured radius, Cardiomegaly, Decreased fi... |
OMIM:616897 |
| Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
| Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia |
OMIM:179800 |
| Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
| Lig4 Syndrome |
|
Hepatomegaly, Hypoplasia of penis, Cryptorchidism, Low anterior hairline, Lymphadenopathy, Type I... |
ORPHA:99812 |
| Follicular Lymphoma |
|
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:545 |
| 22Q11.2 Deletion Syndrome |
|
Hypoplasia of the thymus, Hypocalcemia, Abnormality of the uterus, Atrial septal defect, Hypothyr... |
ORPHA:567 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Iliac crest serration, Micromelia, Cardiomegaly, Wide distal femoral metaphysis, Delayed epiphyse... |
OMIM:613320 |
| Gaisböck Syndrome |
|
Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Hyperproteinemia, Increased circulating re... |
ORPHA:90041 |
| Adult-Onset Still Disease |
|
Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Elevated circulating C-reactive protein ... |
ORPHA:829 |
| Autosomal Dominant Hypocalcemia |
|
Alopecia, Optic atrophy, Depression, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Emotional l... |
ORPHA:428 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
| Methanol Poisoning |
|
Hyperlipidemia, Abnormal optic nerve morphology, Type II diabetes mellitus, Addictive alcohol use... |
ORPHA:31825 |
| Anaplastic Thyroid Carcinoma |
|
Lymphadenopathy, Anaplastic thyroid carcinoma, Dysphagia, Nodular goiter, Goiter |
ORPHA:142 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Sparse pub... |
OMIM:308750 |
| Lethal Congenital Contracture Syndrome 10 |
|
Overriding aorta, Ventricular septal defect, Cardiomegaly, Femoral bowing, Short long bone, Hypop... |
OMIM:617022 |
| Genetic Recurrent Myoglobinuria |
|
Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia |
ORPHA:99845 |
| Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Splenomegaly, Follicular hyperplasia, Lymphadenopathy |
OMIM:240500 |
| Omenn Syndrome |
|
Hepatomegaly, Alopecia, Splenomegaly, Short toe, Thyroiditis, Lymphadenopathy, Abnormal metaphysi... |
ORPHA:39041 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
OMIM:300853 |
| Pleural Mesothelioma |
|
Hepatomegaly, Dysphagia, Lymphadenopathy |
ORPHA:50251 |
| Classic Mycosis Fungoides |
|
Hepatomegaly, Splenomegaly, Alopecia, Lymphadenopathy |
ORPHA:2584 |
| Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Ovarian neoplasm, Fine hair, Lymphadenopat... |
ORPHA:2221 |
| Mu-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:100024 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, H... |
OMIM:201475 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Long toe, Hepatomegaly, Tapered toe, Elevated circulating creatine kinase concentration, Cardiome... |
OMIM:608836 |
| Sotos Syndrome |
|
Hip contracture, Hypospadias, Hypercalcemia, Ventricular septal defect, Phimosis, Aggressive beha... |
ORPHA:821 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Lymphadenopathy, Fluctuating splenomegaly |
OMIM:619220 |
| Familial Hypocalciuric Hypercalcemia |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures |
ORPHA:405 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Lymphadenopathy |
OMIM:615513 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Hepatomegaly, Retinal atrophy, Elevated circulating creatine kinase concentration, Abnormal retin... |
ORPHA:2785 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Restlessness, Abnormal circulating porphyrin concentration, Abnormal fear-induced b... |
ORPHA:100924 |
| Neutral Lipid Storage Myopathy |
|
Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Pineal cyst, Cardiomyopathy, Abnormal circ... |
ORPHA:98908 |
| Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Lymphadenopathy |
OMIM:617772 |
| Immunodeficiency 87 And Autoimmunity |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Cervic... |
OMIM:619573 |
| Legionnaires Disease |
|
Hyponatremia, Pericarditis, Anorexia, Splenomegaly, Myocarditis, Endocarditis, Lymphadenopathy, B... |
ORPHA:549 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Hepatomegaly, Mitral valve calcification, Hypertriglyceridemia, Sandal gap, Elevated hemoglobin A... |
OMIM:619127 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperlipidemia, Mildly elevated creatine kinase |
OMIM:604484 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H... |
ORPHA:158048 |
| Lymphoproliferative Syndrome 3 |
|
Hepatosplenomegaly, Lymphadenopathy |
OMIM:618261 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Lymphadenitis, Di... |
OMIM:615895 |
| Immunodeficiency 52 |
|
Splenomegaly, Lymphadenopathy |
OMIM:617514 |
| Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Abnormal long bone mor... |
ORPHA:411634 |
| Liver Disease, Severe Congenital |
|
Dry hair, Cardiomegaly, Biliary hyperplasia, Hypocalcemia, Elevated hepatic iron concentration, A... |
OMIM:619991 |
| Wiedemann-Rautenstrauch Syndrome |
|
Secundum atrial septal defect, Hypoplasia of the thymus, Genu varum, Long toe, Absent eyebrow, Al... |
OMIM:264090 |
| Cholestasis-Lymphedema Syndrome |
|
Splenomegaly, Hyperlipidemia, Abnormality of the lymphatic system, Hepatomegaly |
ORPHA:1414 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Hypouricemia, Increased circulating guanosine concentration, Splenomegaly, Lymph node hypoplasia,... |
OMIM:613179 |
| Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Hepatosplen... |
OMIM:619644 |
| Classic Hodgkin Lymphoma |
|
Hepatomegaly, Anorexia, Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity |
ORPHA:391 |
| Mucopolysaccharidosis Type 3 |
|
Adenoiditis, Cardiomegaly, Synophrys, Coarse hair, Generalized hirsutism, Retinal degeneration, H... |
ORPHA:581 |
| Cholera |
|
Hyponatremia, Abnormal blood ion concentration, Irritability, Hypokalemia, Hypocalcemia |
ORPHA:173 |
| Cantú Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Abnormal heart valve morphology, Curly eyelashes, Cardio... |
ORPHA:1517 |
| Hennekam Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Sparse axillary hair, Pericardial effusion, Splenomeg... |
ORPHA:2136 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Iliac crest serration, Myocarditis, Metaphyseal chondrodysplasia, Cone-shaped e... |
ORPHA:93317 |
| Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Short fourth metatarsal, Brachydactyly, Highly arched eyebrow, Cardiomegaly, Crypto... |
OMIM:618143 |
| Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy |
OMIM:619164 |
| Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma |
OMIM:277460 |
| Mevalonic Aciduria |
|
Optic disc pallor, Elevated circulating creatine kinase concentration, Elevated circulating C-rea... |
OMIM:610377 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Hypertriglyceridemia, Hyperlipidemia, Irregular menstruation, Thyroiditis, Polycyst... |
ORPHA:79259 |
| Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Dysphagia, Hyperp... |
ORPHA:94093 |
| Mucolipidosis Ii Alpha/Beta |
|
Brittle hair, Increased serum beta-hexosaminidase, Cardiomegaly, Metaphyseal widening, Sparse hai... |
OMIM:252500 |
| Lesch-Nyhan Syndrome |
|
Hip dislocation, Self-injurious behavior, Hyperuricemia, Dysphagia, Testicular atrophy |
OMIM:300322 |
| Pfapa Syndrome |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:42642 |
| Pancreatoblastoma |
|
Pancreatic calcification, Elevated maternal serum alpha-fetoprotein, Abnormal lymph node morphology |
ORPHA:677 |
| Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Splenomegaly, Thyroiditis, Lymphadenopathy |
OMIM:619375 |
| Niemann-Pick Disease, Type A |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Irritability, Cherry red spot of the macula |
OMIM:257200 |
| Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Abnormality of retinal pigmentation, Hepatomegaly, Cardi... |
ORPHA:14 |
| Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Synophrys, Low anterior hairline, Flared metaphysis, Flat acetabular roof, Low posterior hairline... |
OMIM:610442 |
| Tetraamelia Syndrome 1 |
|
Hypoplasia of the fallopian tube, Absent external genitalia, Asplenia, Hypoplastic pelvis, Adrena... |
OMIM:273395 |
| Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Pericardial effusion, Dilated cardiomyopathy, Hyperaldosteronism, Hypocalcemia, Hypomagnesemia, H... |
ORPHA:73224 |
| Sickle Cell Disease |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Splenic infarction, Priapism, Cholelithiasis, Retinopathy |
OMIM:603903 |
| Gitelman Syndrome |
|
Neoplasm of the pancreas, Salt craving, Maternal diabetes, Pericardial effusion, Delayed puberty,... |
ORPHA:358 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat... |
ORPHA:228308 |
| Alagille Syndrome 1 |
|
Hypoplasia of the ulna, Hypertriglyceridemia, Ventricular septal defect, Chorioretinal atrophy, P... |
OMIM:118450 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hyperextensibility of the finger joints, Internally rotated shoulders, Decreased response to grow... |
OMIM:619503 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Cardiomegaly, Shoulder dislocation, Atrial septal defect, Patent foramen o... |
OMIM:245600 |
| Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Elevated circulating growth hormone concentr... |
ORPHA:97287 |
| Schnitzler Syndrome |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:37748 |
| Wiedemann-Rautenstrauch Syndrome |
|
Optic disc hypoplasia, Decreased response to growth hormone stimulation test, Congenital malforma... |
ORPHA:3455 |
| Glycogen Storage Disease Ii |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase... |
OMIM:232300 |
| Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
ORPHA:397596 |
| Doors Syndrome |
|
Adrenal hyperplasia, Aplasia/Hypoplasia of the phalanges of the 2nd toe, Abnormal toe morphology,... |
ORPHA:79500 |
| Generalized Eruptive Histiocytosis |
|
Lymphadenopathy |
ORPHA:157991 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Nail-biting, Small scrotum, Ventricular septal defect, Optic nerve hypoplasia, Sandal gap, Aggres... |
OMIM:620330 |
| Generalized Pustular Psoriasis |
|
Hyponatremia, Hypoalbuminemia, Hypocalcemia, Elevated circulating C-reactive protein concentration |
ORPHA:247353 |
| Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Conotruncal defect, Hypocalcemia, A... |
ORPHA:2306 |
| Caspase 8 Deficiency |
|
Splenomegaly, Lymphadenopathy |
OMIM:607271 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Splenomegaly, Abnormal lymph node morphology, Hepatosplenomegaly |
OMIM:612840 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Short metacarpal, Broad long bones, Micromelia, Bowing of the legs, Hip subluxation, Metatarsus a... |
OMIM:271665 |
| Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Pericarditis, Elevated circulating C-reactive protein concentration, Orchitis, Splenomegaly, Abno... |
ORPHA:32960 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Arachnodactyly, Cardiomegaly, Synophrys, Thin metacarpal cortices, Low posterior hairline, Thin m... |
ORPHA:2463 |
| Immunodeficiency With Hyper-Igm, Type 2 |
|
Lymphadenopathy |
OMIM:605258 |
| Rosaï-Dorfman Disease |
|
Lymphadenopathy |
ORPHA:158014 |
| Bacterial Toxic-Shock Syndrome |
|
Elevated circulating creatine kinase concentration, Myocarditis, Elevated circulating creatinine ... |
ORPHA:36234 |
| Kikuchi-Fujimoto Disease |
|
Hepatomegaly, Alopecia, Generalized lymphadenopathy, Elevated circulating C-reactive protein conc... |
ORPHA:50918 |
| Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hypothyroidism, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
| Acute Interstitial Pneumonia |
|
Pericardial effusion, Elevated circulating creatinine concentration, Elevated circulating C-react... |
ORPHA:79126 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Calcinosis, Alopecia, Abnormal fingertip morphology, Abnormal hair morphology, Hyperlipidemia, Na... |
ORPHA:90154 |
| Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly, Depression, Hip dysplasia, Attention deficit hyperactivi... |
OMIM:618798 |
| Familial Multiple Lipomatosis |
|
Chorioretinitis, Hyperlipidemia, Abnormal tricuspid valve morphology, Bowing of the long bones |
ORPHA:199276 |
| Castleman Disease |
|
Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration, Follicular hy... |
ORPHA:160 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Absence of lymph node germinal center |
OMIM:606843 |
| Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Decreased serum insulin-like growth factor 1, Ventricular septal defect, Elevated c... |
OMIM:614921 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Abnormal optic nerve morphology, Bone marrow hypocel... |
ORPHA:3226 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Congenital hip dislocation, Cardiomegaly, Asplenia, Dextrotransposition of the great arteries, At... |
OMIM:306955 |
| Danon Disease |
|
Myocardial necrosis, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated ca... |
OMIM:300257 |
| Tularemia |
|
Abnormal nasopharyngeal adenoid morphology, Cervical lymphadenopathy, Mediastinal lymphadenopathy... |
ORPHA:3392 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Hyperuricemia |
ORPHA:364 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Nail dystrophy, Testicular atrophy, Bone marrow hypocellularity |
OMIM:613987 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Hepatomegaly, Alopecia, Sparse scalp hair, Down-sloping shoulders, Coxa valga, Hyperl... |
OMIM:248370 |
| Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
OMIM:607594 |
| Johanson-Blizzard Syndrome |
|
Conjugated hyperbilirubinemia, Hypocalcemia, Atrial septal defect, Clinodactyly of the 5th finger... |
OMIM:243800 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Dysphagia, Elevated circulating creatine kinase concentration, Right ventricular hypertrophy, Car... |
ORPHA:268 |
| Brucellosis |
|
Hepatomegaly, Pericarditis, Elevated circulating C-reactive protein concentration, Anorexia, Hype... |
ORPHA:1304 |
| Digeorge Syndrome |
|
Parathyroid agenesis, Ventricular septal defect, Decreased circulating parathyroid hormone level,... |
OMIM:188400 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Sparse hair, Hypopituitarism, Nail dystrophy, Absent peripheral lymph nodes in presence of infection |
ORPHA:98813 |
| Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly |
ORPHA:615 |
| Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... |
ORPHA:363705 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Diabetes mellitus, Elevated circulating creatine kinase concentration, Splenomegaly... |
ORPHA:565612 |
| Primary Hepatic Neuroendocrine Carcinoma |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Elevated circulating alpha-fetoprotein conce... |
ORPHA:100085 |
| Lethal Acantholytic Erosive Disorder |
|
Absent eyebrow, Cardiomegaly, Absent eyelashes, 4-5 finger syndactyly, 2-3 finger syndactyly, Car... |
ORPHA:158687 |
| Glycogen Storage Disease Ib |
|
Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Hyperlipidemia, Xanthelasma, Hyperuricemia, Dela... |
OMIM:232220 |
| Immunodeficiency 105 |
|
Hepatosplenomegaly, Absence of lymph node germinal center |
OMIM:619924 |
| Indolent Systemic Mastocytosis |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:98848 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Alopecia, Brittle hair, Insulin-resistant diabetes mellitus, Hyperlipidemia, Hyperinsulinemia, Sh... |
OMIM:608612 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, Dilated cardio... |
OMIM:615688 |
| Neuroendocrine Tumor Of The Colon |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology, An... |
ORPHA:100080 |
| Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... |
ORPHA:3092 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
OMIM:618495 |
| Woodhouse-Sakati Syndrome |
|
Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Prematu... |
OMIM:241080 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Absent tonsils, Absence of lymph node germinal center |
ORPHA:277 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Hypophosphatemic rickets, Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
| Sézary Syndrome |
|
Hepatomegaly, Alopecia, Splenomegaly, Lymphadenopathy, Nail dystrophy |
ORPHA:3162 |
| Carney Triad |
|
Anorexia, Mediastinal lymphadenopathy, Lymphadenopathy, Adrenocortical adenoma, Pheochromocytoma,... |
ORPHA:139411 |
| Woodhouse-Sakati Syndrome |
|
Decreased serum testosterone concentration, Alopecia, Premature ovarian insufficiency, Streak ova... |
ORPHA:3464 |
| Immunodeficiency 7 |
|
Hepatomegaly, Splenomegaly, Patchy alopecia, Lymphadenopathy |
OMIM:615387 |
| Alström Syndrome |
|
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... |
ORPHA:64 |
| Middle Ear Neuroendocrine Tumor |
|
Neuroendocrine neoplasm, Chronic noninfectious lymphadenopathy, Carcinoid tumor |
ORPHA:100084 |
| Sandhoff Disease |
|
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Impotence, Cherry red spot of the macula |
OMIM:268800 |
| Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly |
OMIM:615122 |
| American Trypanosomiasis |
|
Hepatomegaly, Splenomegaly, Myocarditis, Lymphadenopathy, Cardiomyopathy |
ORPHA:3386 |
| Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Cardiomegaly, Abnormal finger morphology, Aplasia of... |
ORPHA:3472 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Thyroiditis, Lymphadenopathy, Hypocalcemic tetany, Hypothyroidism |
ORPHA:83471 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Irritability, Hyperlipidemia |
ORPHA:2089 |
| Ogden Syndrome |
|
Congenital hip dislocation, Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atri... |
OMIM:300855 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Abnormal eyebrow morphology, Alopecia, Absent eyelashes, Hyperlipidemia, Breast aplasia, Osteolyt... |
ORPHA:90153 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Left ventricular ... |
ORPHA:308552 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Lymph node hypoplasia, Absent tonsils, Hepatomegaly |
ORPHA:276 |
| Steinert Myotonic Dystrophy |
|
Decreased response to growth hormone stimulation test, Oral-pharyngeal dysphagia, Non-medullary t... |
ORPHA:273 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Hallux valgus, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Impulsiv... |
OMIM:300967 |
| Immunodeficiency With Hyper-Igm, Type 4 |
|
Absence of lymph node germinal center |
OMIM:608184 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Hepatomegaly, Splenomegaly, Thyroiditis, Lymphadenopathy, Optic neuritis, Type I diabetes mellitus |
ORPHA:436159 |
| Ethylene Glycol Poisoning |
|
Addictive alcohol use, Hyperkalemia, Hypocalcemia, Euphoria |
ORPHA:31826 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Enlarged tonsils, Thyroiditis, Lymphadenopathy, Hepatosplenomegaly, Patchy alopecia, Type I diabe... |
OMIM:606367 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Splenomegaly, Lymphadenopathy |
OMIM:150550 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Adrenocortical cytomegaly, Elevated circulating alpha-fetoprotein concentration, Ca... |
ORPHA:116 |
| Primary Myelofibrosis |
|
Hepatomegaly, Anorexia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:824 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Lymphadenopathy, Follicular hyperplasia |
OMIM:619846 |
| Hypocomplementemic Urticarial Vasculitis |
|
Hepatomegaly, Abnormal heart valve morphology, Pericardial effusion, Splenomegaly, Lymphadenopathy |
ORPHA:36412 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... |
OMIM:115197 |
| Lymphatic Filariasis |
|
Orchitis, Lymphadenitis, Abnormality of the lymphatic system, Epididymitis, Vaginal hydrocele, Ly... |
ORPHA:2035 |
| Immunodeficiency 32A |
|
Lymphadenitis, Lymphadenopathy |
OMIM:614893 |
| Neuroendocrine Tumor Of The Rectum |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology, An... |
ORPHA:100081 |
| Neuroendocrine Tumor Of Anal Canal |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology, An... |
ORPHA:100082 |
| Parenteral Nutrition-Associated Cholestasis |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, Abnormal circulating f... |
ORPHA:567983 |
| Bone Marrow Failure Syndrome 5 |
|
Hypogonadism, Testicular atrophy, Nail dystrophy |
OMIM:618165 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Decreased response to growth hormone stimulation test, Central diabetes insipidus, ... |
ORPHA:293987 |
| Papa Syndrome |
|
Type I diabetes mellitus, Lymphadenopathy |
ORPHA:69126 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly |
ORPHA:99931 |
| Graft Versus Host Disease |
|
Irritability, Lymphadenopathy, Hyperbilirubinemia, Hepatosplenomegaly |
ORPHA:39812 |
| Cold Agglutinin Disease |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:56425 |
| Crimean-Congo Hemorrhagic Fever |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Anorexia, Orchitis, Splenomegal... |
ORPHA:99827 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pericardial effusion, Lymphadenopathy |
ORPHA:411703 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Bicuspid aortic valve, Compulsive behaviors, Atrial septal defect, Abnormal repetitive mannerisms... |
ORPHA:353281 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Elevated circulating C-reactive protein concentration, Follicular hyperplasia, Paratracheal lymph... |
OMIM:615934 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... |
OMIM:157640 |
| Truncus Arteriosus |
|
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Tetralogy of Fallot, Ab... |
ORPHA:3384 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Abnormal metaphysis morphology, White hair, Long fibula, Fine hair |
ORPHA:935 |
| Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... |
ORPHA:2041 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Splenomegaly, Lympha... |
OMIM:603909 |
| Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Clubbing, Atrial septal defect, Patent foramen ... |
ORPHA:439 |
| Fabry Disease |
|
Abnormal endocardium morphology, Anorexia, Hyperlipidemia, Optic atrophy, Abnormal femur morpholo... |
ORPHA:324 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Impotence, Amyloid deposition in the vitreous humor, Cardiomegaly |
OMIM:105210 |
| Igg4-Related Ophthalmic Disease |
|
Elevated circulating C-reactive protein concentration, Orchitis, Abnormality of the anterior pitu... |
ORPHA:449563 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Generalized lymphadenopathy, Splenomegaly, Thyroiditis, Lymphadenopathy, Clubbing of fingers, Typ... |
OMIM:614700 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Lymphadenitis, Abnormal lymph node morphology, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:911 |
| Pseudomyxoma Peritonei |
|
Lymphadenopathy |
ORPHA:26790 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Optic atrophy, Depression, Cardiomegaly |
OMIM:619259 |
| Schimke Immuno-Osseous Dysplasia |
|
Wide capital femoral epiphyses, Abnormality of thyroid physiology, Abnormal femoral head morpholo... |
ORPHA:1830 |
| Aapoaiv Amyloidosis |
|
Diabetes mellitus, Hyperlipidemia, Elevated circulating creatinine concentration, Hypertrophic ca... |
ORPHA:439232 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Adrenocortical cytomegaly, Overgrowth of external genitalia, Cardiomegaly, Cryptorc... |
OMIM:130650 |
| Scrub Typhus |
|
Myocarditis, Splenomegaly, Lymphadenopathy |
ORPHA:83317 |
| Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p... |
ORPHA:3427 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... |
ORPHA:157 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Sparse scalp hair, Hypertriglyceridemia, Pigmentary retinopathy, Sparse hair, Dysphagia, Type I d... |
OMIM:606721 |
| Cutaneous Mastocytoma |
|
Lymphadenopathy |
ORPHA:79455 |
| Aggressive Systemic Mastocytosis |
|
Hypersplenism, Lymphadenopathy, Anorexia, Hepatosplenomegaly |
ORPHA:98850 |
| Meige Disease |
|
Lymph node hypoplasia, Absence of lymph node germinal center |
ORPHA:90186 |
| Behçet Disease |
|
Pericarditis, Anorexia, Orchitis, Splenomegaly, Retrobulbar optic neuritis, Endocarditis, Lymphad... |
ORPHA:117 |
| Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
| Mixed Connective Tissue Disease |
|
Hepatomegaly, Pericarditis, Alopecia, Splenomegaly, Mediastinal lymphadenopathy, Myocarditis, Lym... |
ORPHA:809 |
| Felty Syndrome |
|
Hepatomegaly, Pericarditis, Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity |
ORPHA:47612 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Elevated circulating C-reactive protein concentration, Lymphadenopathy |
OMIM:617099 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Irritability, Unconjugat... |
OMIM:618278 |
| Familial Pancreatic Carcinoma |
|
Pancreatic adenocarcinoma, Diabetes mellitus, Anorexia, Lymphadenopathy, Hepatosplenomegaly, Ovar... |
ORPHA:1333 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity, Type I diabetes mellitus |
OMIM:301078 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Type I diabetes mellitus, Alopecia, Hypothyroidism, Lymphadenopathy |
OMIM:304790 |
| Marburg Hemorrhagic Fever |
|
Pericarditis, Elevated circulating creatine kinase concentration, Hyperamylasemia, Anorexia, Orch... |
ORPHA:99826 |
| Agammaglobulinemia, X-Linked |
|
Lymph node hypoplasia, Cor pulmonale, Epididymitis, Prostatitis |
OMIM:300755 |
| Coccidioidomycosis |
|
Abnormal sperm morphology, Pericarditis, Abnormal retinal morphology, Abnormality of the endocrin... |
ORPHA:228123 |
| Leptospirosis |
|
Papilledema, Hepatomegaly, Pericarditis, Anorexia, Retinal hemorrhage, Lymphadenopathy, Chorioret... |
ORPHA:509 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Diabetes mellitus, Myocarditis, Hyperkalemia, Hypocalcemia |
ORPHA:544482 |
| Glycogen Storage Disease Ia |
|
Hepatomegaly, Hyperlipidemia, Xanthelasma, Hyperuricemia, Delayed puberty, Enlarged kidney, Lipem... |
OMIM:232200 |
| Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Curly hair, Right ventricular cardiomyopathy... |
OMIM:601214 |
| Q Fever |
|
Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Anorexia, Pericardial effusion, Sple... |
ORPHA:781 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Lymphadenopathy, Hepatosplenomegaly |
OMIM:618935 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Dysphagia |
OMIM:608013 |
| Neuroendocrine Neoplasm Of Appendix |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Tricuspid stenosis, Anorexia, Adrenocorticot... |
ORPHA:100079 |
| Fucosidosis |
|
Hepatomegaly, Cardiomegaly, Coxa valga, Splenomegaly, Cherry red spot of the macula, Thick eyebrow |
OMIM:230000 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Bicuspid aortic valve, Compulsive behaviors, Atrial septal defect, Patent foramen ovale, Abnormal... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Bicuspid aortic valve, Compulsive behaviors, Atrial septal defect, Patent foramen ovale, Abnormal... |
ORPHA:353277 |
| Farber Disease |
|
Short toe, Lymphadenopathy, Hepatosplenomegaly, Macular degeneration, Short finger, Cherry red sp... |
ORPHA:333 |
| Gamma-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Dysphagia, Lymphadenopathy |
ORPHA:100026 |
| Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... |
OMIM:231005 |
| Bohring-Opitz Syndrome |
|
Retinal atrophy, Cardiomegaly, Synophrys, Optic atrophy, Abnormal cardiac septum morphology, Meta... |
ORPHA:97297 |
| Waldenström Macroglobulinemia |
|
Hepatomegaly, Anorexia, Abnormal retinal vascular morphology, Splenomegaly, Retinal hemorrhage, L... |
ORPHA:33226 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Small scrotum, Bile duct proliferation, Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubi... |
OMIM:613658 |
| Fucosidosis |
|
Hepatomegaly, Hypothyroidism, Cardiomegaly |
ORPHA:349 |
| Boutonneuse Fever |
|
Cervical lymphadenopathy, Lymphadenopathy |
ORPHA:83313 |
| Diffuse Cutaneous Mastocytosis |
|
Hepatomegaly, Abnormality of the spleen, Lymphadenopathy |
ORPHA:79456 |
| Congenital Analbuminemia |
|
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia |
ORPHA:86816 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Metaphyseal dysplasia, Short iliac bones, Metaphyseal sclerosis, Metaphyseal widening, Lymphadeno... |
OMIM:607944 |
| Neuroendocrine Tumor Of Stomach |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology, An... |
ORPHA:100075 |
| Mycosis Fungoides |
|
Lymphadenopathy |
OMIM:254400 |
| Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Choroidal neovascularization, Adrenal calcification, Cardiomegaly, Peric... |
ORPHA:51608 |
| Acute Monoblastic/Monocytic Leukemia |
|
Cervical lymphadenopathy, Anorexia, Central hypothyroidism |
ORPHA:514 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Hypophosphatemic rickets, Dilated cardiomyopathy, Cardiomegaly |
OMIM:208000 |
| Acute Promyelocytic Leukemia |
|
Addictive alcohol use, Metrorrhagia, Anorexia, Lymphadenopathy |
ORPHA:520 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Alopecia, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:169154 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
OMIM:616100 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Myocarditis, Thyroiditis, Lymphadenopathy |
ORPHA:139402 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Ventricular septal defect, Cardiomega... |
ORPHA:96191 |
| Chediak-Higashi Syndrome |
|
Hepatomegaly, Hypopigmentation of hair, Splenomegaly, Silver-gray hair, Ocular albinism, Lymphade... |
OMIM:214500 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hydrocele testis, Hyperlipidemia, Hypoalbuminemia |
ORPHA:567546 |
| Immunodeficiency 10 |
|
Lymphadenopathy |
OMIM:612783 |
| Aregenerative Anemia |
|
Depression, Emotional lability, Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:101096 |
| X-Linked Intellectual Disability, Snyder Type |
|
Long toe, Hypospadias, Arachnodactyly, Sparse eyebrow, Cryptorchidism, Synophrys, Slender toe, Ab... |
ORPHA:3063 |
| Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Generalized lymphadenopathy, Optic neuropathy, Anorexia, Pericardial effusion, Sple... |
OMIM:181000 |
| Cyclic Neutropenia |
|
Cervical lymphadenopathy, Recurrent tonsillitis, Lymphadenopathy |
ORPHA:2686 |
| Aicardi-Goutieres Syndrome 7 |
|
Hepatomegaly, Generalized lymphadenopathy, Pericardial effusion, Splenomegaly, Increased circulat... |
OMIM:615846 |
| Combined Deficiency Of Factor V And Factor Viii |
|
Hyperlipidemia, Menorrhagia, Hyperuricemia |
ORPHA:35909 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Renal hypophosphatemia, Abnormal sacroiliac joint morphology, Coxa vara, Tibial bowing, Hypophosp... |
ORPHA:289176 |
| Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Cherry red spot of the macula, Inappropriate behavior |
ORPHA:309246 |
| Hyper-Igd Syndrome |
|
Optic disc pallor, Splenomegaly, Lymphadenitis, Lymphadenopathy, Hepatosplenomegaly, Rod-cone dys... |
OMIM:260920 |
| Igg4-Related Kidney Disease |
|
Pericarditis, Elevated circulating C-reactive protein concentration, Lymphadenitis, Abnormality o... |
ORPHA:449395 |
| Pulmonary Capillary Hemangiomatosis |
|
Pericardial effusion, Mediastinal lymphadenopathy, Clubbing of fingers, Lymphadenopathy |
ORPHA:199241 |
| Pediatric Systemic Lupus Erythematosus |
|
Pericardial effusion, Alopecia, Lymphadenopathy |
ORPHA:93552 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:169090 |
| African Trypanosomiasis |
|
Papilledema, Hepatomegaly, Pericarditis, Alopecia, Abnormality of the menstrual cycle, Abnormalit... |
ORPHA:3385 |
| Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
OMIM:619183 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dysphagia, Left v... |
ORPHA:365 |
| Exercise-Induced Malignant Hyperthermia |
|
Hypocalcemia, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
ORPHA:466650 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Splenomegaly, Enlarged tonsils, Absence of lymph node germinal center |
OMIM:308230 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Cervical lymphadenopathy, Elevated circulating C-reactive protein concentration, Lymphadenopathy |
OMIM:617718 |
| Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... |
ORPHA:1329 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Hepatomegaly, Lymphadenopathy |
ORPHA:343 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Blau Syndrome |
|
Pericarditis, Camptodactyly of finger, Abnormal retinal vascular morphology, Splenomegaly, Retrob... |
ORPHA:90340 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Inappropriate antidiuretic hormone secretion, Hepatomegaly, Absence of lymph node germinal center... |
ORPHA:79124 |
| Igg4-Related Submandibular Gland Disease |
|
Abnormality of the thyroid gland, Prostatitis, Enlarged lacrimal glands, Abnormal pancreas morpho... |
ORPHA:449432 |
| Cutaneous Neuroendocrine Carcinoma |
|
Carcinoid tumor, Chronic noninfectious lymphadenopathy, Merkel cell skin cancer |
ORPHA:79140 |
| Squamous Cell Carcinoma Of The Anal Canal |
|
Lymphadenopathy |
ORPHA:424019 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Elevated circulating C-reactive protein concentration, Follicular hyperplasia, Anorexia, Splenome... |
OMIM:619381 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
| Lymphangioleiomyomatosis |
|
Retinal hamartoma, Abnormality of the lymphatic system, Optic atrophy, Chylopericardium, Lymphade... |
ORPHA:538 |
| Aicardi-Goutières Syndrome |
|
Diabetes mellitus, Cardiomegaly, Hepatosplenomegaly, Hypertrophic cardiomyopathy, Irritability, M... |
ORPHA:51 |
| Nephroblastoma |
|
Lymphadenopathy |
ORPHA:654 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Enlarged lacrimal glands, Thyroiditis, Lymphadenopathy, Enlargement of parotid gland, Abnormal op... |
ORPHA:79078 |
| Familial Mediterranean Fever |
|
Orchitis, Splenomegaly, Pericarditis, Lymphadenopathy |
ORPHA:342 |
| Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Optic atrophy, Polycystic ovaries |
ORPHA:137675 |
| Immunodeficiency 31C |
|
Hepatomegaly, Diabetes mellitus, Splenomegaly, Lymphadenopathy, Delayed puberty, Hypothyroidism |
OMIM:614162 |
| Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Splenomega... |
ORPHA:75565 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
| Riddle Syndrome |
|
Emotional lability, Generalized lymphadenopathy, Elevated circulating alpha-fetoprotein concentra... |
ORPHA:420741 |
| Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Premature ovarian insufficiency, Chronic noninfectious lymphadenopathy, Hyperspleni... |
ORPHA:3261 |
| Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Abnormal metacarpophalangeal joint morphology, Abnormal metatarsal morphology, Lymphadenopathy, A... |
ORPHA:85408 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... |
OMIM:261740 |
| Melkersson-Rosenthal Syndrome |
|
Lymphadenopathy |
ORPHA:2483 |
| Klatskin Tumor |
|
Hepatomegaly, Lymphadenopathy |
ORPHA:99978 |
| Cherubism |
|
Macular scar, Marcus Gunn pupil, Optic neuropathy, Submandibular lymph node enlargement |
OMIM:118400 |
| Ileal Neuroendocrine Tumor |
|
Tricuspid stenosis, Lymphadenopathy, Small intestine carcinoid, Pulmonic stenosis, Increased seru... |
ORPHA:100078 |
| Malakoplakia |
|
Orchitis, Prostate neoplasm, Abnormality of the menstrual cycle, Follicular hyperplasia |
ORPHA:556 |
| Malt Lymphoma |
|
Abnormality of the thyroid gland, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:52417 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:235400 |
| Selective Igm Deficiency |
|
Lymphadenitis, Thyroid carcinoma, Hashimoto thyroiditis, Lymphadenopathy |
ORPHA:331235 |
| Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Hypoplastic distal radial epiphyses, Cardiomegaly, Coxa valga, Aortic... |
OMIM:182250 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:98849 |
| Kawasaki Disease |
|
Pericarditis, Abnormality of nail color, Abnormal heart valve morphology, Myocarditis, Cervical l... |
ORPHA:2331 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Splenomegaly, Lymphadenitis, Hepatomegaly, Lymphadenopathy |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Splenomegaly, Lymphadenitis, Hepatomegaly, Lymphadenopathy |
OMIM:233710 |
| Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... |
ORPHA:95430 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Splenomegaly, Lymphadenitis, Hepatomegaly, Lymphadenopathy |
OMIM:233690 |
| Meckel Syndrome |
|
Accessory spleen, Bowing of the long bones, True hermaphroditism, Abnormal chorioretinal morpholo... |
ORPHA:564 |
| Gallbladder Neuroendocrine Tumor |
|
Neuroendocrine neoplasm, Chronic noninfectious lymphadenopathy, Anorexia |
ORPHA:100086 |
| Glycogen Storage Disease Ic |
|
Hepatomegaly, Hyperlipidemia, Xanthelasma, Hyperuricemia, Delayed puberty |
OMIM:232240 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Arachnodactyly, Bicuspid aortic valve, Cardiomegaly |
ORPHA:91387 |
| Absence Of The Pulmonary Artery |
|
Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... |
ORPHA:980 |
| Systemic Lupus Erythematosus |
|
Depression, Alopecia, Retinopathy, Lymphadenopathy |
ORPHA:536 |
| Primary Sjögren Syndrome |
|
Thyroiditis, Lymphadenopathy, Depression, Optic neuritis, Vaginal dryness, Parotitis |
ORPHA:289390 |
| Granulomatous Disease, Chronic, X-Linked |
|
Splenomegaly, Lymphadenitis, Hepatomegaly, Lymphadenopathy |
OMIM:306400 |
| Acute Generalized Exanthematous Pustulosis |
|
Lymphadenopathy |
ORPHA:293173 |
| Common Variable Immunodeficiency |
|
Splenomegaly, Lymphadenopathy |
ORPHA:1572 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial... |
ORPHA:1677 |
| Chikungunya |
|
Depression, Cervical lymphadenopathy, Lymphadenopathy |
ORPHA:324625 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... |
ORPHA:99125 |
| Immunodeficiency 55 |
|
Lymphadenopathy |
OMIM:617827 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Absent peripheral lymph nodes in presence of infection |
OMIM:600802 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
| Homozygous Familial Hypercholesterolemia |
|
Optic neuropathy, Hyperlipidemia, Increased LDL cholesterol concentration, Myocardial steatosis, ... |
ORPHA:391665 |
| Adenocarcinoma Of The Anal Canal |
|
Lymphadenopathy |
ORPHA:424016 |
| Joubert Syndrome 14 |
|
Ventricular septal defect, Highly arched eyebrow, Postaxial polydactyly, Morning glory anomaly, O... |
OMIM:614424 |
| Joubert Syndrome With Oculorenal Defect |
|
Retinal dystrophy, Highly arched eyebrow, Hand polydactyly, Foot polydactyly, Chorioretinal colob... |
ORPHA:2318 |
| Joubert Syndrome |
|
Highly arched eyebrow, Situs inversus totalis, Hand polydactyly, Foot polydactyly, Abnormality of... |
ORPHA:475 |
| Joubert Syndrome With Renal Defect |
|
Hand polydactyly, Abnormality of the hypothalamus-pituitary axis, Highly arched eyebrow |
ORPHA:220497 |
