| Thyroid Cancer, Nonmedullary, 1 |
|
Non-medullary thyroid carcinoma, Goiter, Papillary thyroid carcinoma |
OMIM:188550 |
| Thyroid Dyshormonogenesis 3 |
|
Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter |
OMIM:274700 |
| Thyroid Dyshormonogenesis 2A |
|
Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 concentration,... |
OMIM:274500 |
| Thyroid Dyshormonogenesis 5 |
|
Hypothyroidism, Goiter |
OMIM:274900 |
| Thyroid Dyshormonogenesis 4 |
|
Hypothyroidism, Goiter |
OMIM:274800 |
| Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors |
|
Euthyroid multinodular goiter, Papillary thyroid carcinoma |
OMIM:138800 |
| Deiodinase, iodothyronine, type I |
|
Euthyroid hyperthyroxinemia, Goiter |
OMIM:147892 |
| Thyroid Hormone Plasma Membrane Transport Defect |
|
Euthyroid hyperthyroxinemia, Goiter |
OMIM:188560 |
| Thyroid Hormone Resistance, Generalized, Autosomal Dominant |
|
Increased circulating free T4 concentration, Impaired sensitivity to thyroid hormone, Increased c... |
OMIM:188570 |
| Fetal Iodine Deficiency Disorder |
|
Congenital goiter, Congenital hypothyroidism |
OMIM:228355 |
| Goiter, Multinodular 2 |
|
Euthyroid multinodular goiter |
OMIM:300273 |
| Thyroid Cancer, Nonmedullary, 4 |
|
Ovarian neoplasm, Papillary thyroid carcinoma, Goiter |
OMIM:616534 |
| Hypothyroidism, Congenital, Nongoitrous, 1 |
|
Hypothyroidism, Thyroid hypoplasia, Elevated circulating thyroid-stimulating hormone concentratio... |
OMIM:275200 |
| Pendred Syndrome |
|
Compensated hypothyroidism, Thyroid carcinoma, Goiter |
OMIM:274600 |
| Lipoid Congenital Adrenal Hyperplasia |
|
Congenital adrenal hyperplasia, Renal salt wasting, Adrenogenital syndrome, Hypospadias |
OMIM:201710 |
| Blepharochalasis And Double Lip |
|
Goiter |
OMIM:109900 |
| Thyrocerebroretinal Syndrome |
|
Thrombocytopenia, Goiter |
OMIM:274240 |
| Rhabdomyosarcoma, Embryonal, 2 |
|
Multinodular goiter, Ovarian thecoma, Thyroid nodule, Goiter |
OMIM:180295 |
| Thyrocerebrorenal Syndrome |
|
Euthyroid goiter, Thrombocytopenia |
ORPHA:3327 |
| Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Goiter |
OMIM:600791 |
| Familial Papillary Or Follicular Thyroid Carcinoma |
|
Nodular goiter, Follicular thyroid carcinoma, Papillary thyroid carcinoma, Goiter |
ORPHA:319487 |
| Bangstad Syndrome |
|
Pancytopenia, Primary gonadal insufficiency, Insulin-resistant diabetes mellitus, Goiter |
OMIM:210740 |
| Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multinodular goiter |
ORPHA:2091 |
| Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Congenital adrenal hyperplasia, Increased circulating ACTH level |
OMIM:613571 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia |
OMIM:601820 |
| Hyperaldosteronism, Familial, Type I |
|
Hyperaldosteronism, Adrenogenital syndrome, Adrenal hyperplasia, Decreased circulating renin level |
OMIM:103900 |
| Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Nodular goiter, Papillary thyroid carcinoma, Goiter |
ORPHA:97290 |
| Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Type II diabetes mellitus... |
OMIM:274300 |
| Retinal Dystrophy With Or Without Extraocular Anomalies |
|
Goiter |
OMIM:617175 |
| Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
| Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Increased circulating cortisol level, Adrenal hyperplasia |
OMIM:614190 |
| Thyroid Dyshormonogenesis 1 |
|
Hypothyroidism, Goiter |
OMIM:274400 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Goiter, Increased circulating T4 concentration, Increased circulating free T4 concentration, Hype... |
OMIM:613239 |
| Igg4-Related Thyroid Disease |
|
Graves disease, Retroperitoneal fibrosis, Euthyroid goiter, Goiter, Sialadenitis, Sclerosing chol... |
ORPHA:64744 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Goiter, Leukocytosis, Hashimoto thyroiditis, Hypothyroidism, Thrombocytopenia |
ORPHA:83601 |
| Storage Pool Platelet Disease |
|
Decreased mean platelet volume, Acute leukemia |
OMIM:185050 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ... |
OMIM:187800 |
| Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Renal salt wasting, Elevated circulating 21-deoxycortisol concentration, Adr... |
OMIM:201910 |
| Thrombocytopenia 3 |
|
Decreased mean platelet volume, Thrombocytopenia |
OMIM:273900 |
| Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri... |
OMIM:619271 |
| X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
| Graves Disease |
|
Graves disease, Goiter, Increased circulating free T3, Increased circulating free T4 concentratio... |
OMIM:275000 |
| Immunodeficiency 21 |
|
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... |
OMIM:614172 |
| Thyroid Lymphoma |
|
Hashimoto thyroiditis, Hypothyroidism, Hyperthyroidism, Goiter |
ORPHA:97285 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm... |
OMIM:615193 |
| Glutaric Aciduria Iii |
|
Hyperthyroidism, Goiter |
OMIM:231690 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... |
OMIM:314050 |
| Ascher Syndrome |
|
Hypothyroidism, Goiter |
ORPHA:1253 |
| Familial Thyroid Dyshormonogenesis |
|
Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin... |
ORPHA:95716 |
| Familial Hyperaldosteronism Type Ii |
|
Secretory adrenocortical adenoma, Adrenal hyperplasia, Hypokalemia, Abnormal circulating renin, G... |
ORPHA:404 |
| Immunodeficiency 32B |
|
Hypoalbuminemia, Impaired oxidative burst, Splenomegaly, Eosinophilia, Monocytopenia, Thrombocyto... |
OMIM:226990 |
| Familial Hyperaldosteronism Type I |
|
Secretory adrenocortical adenoma, Dexamethasone-suppressible primary hyperaldosteronism, Adrenal ... |
ORPHA:403 |
| Pendred Syndrome |
|
Hyperparathyroidism, Hypothyroidism, Thyroid carcinoma, Goiter |
ORPHA:705 |
| Thrombocytopenia 10 |
|
Decreased mean platelet volume, Thrombocytopenia |
OMIM:620484 |
| Ciliary Dyskinesia, Primary, 37 |
|
Hypothyroidism, Goiter |
OMIM:617577 |
| Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom... |
OMIM:619802 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hyperthyroidism, Goiter |
OMIM:188580 |
| Hyperaldosteronism, Familial, Type Iii |
|
Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating renin level, Hypokalemia, Hypercal... |
OMIM:613677 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
Increased circulating cortisol level, Decreased circulating ACTH concentration, Macronodular adre... |
OMIM:219080 |
| Familial Gestational Hyperthyroidism |
|
Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Hyperthyroid... |
ORPHA:99819 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume |
ORPHA:494444 |
| Immunodeficiency 11A |
|
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells |
OMIM:615206 |
| Hypothyroidism, Congenital, Nongoitrous, 9 |
|
Thyroid hypoplasia, Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone le... |
OMIM:301035 |
| Thrombocytopenia 2 |
|
Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia |
OMIM:188000 |
| Autoimmune Polyendocrinopathy Type 1 |
|
Abnormal circulating calcium-phosphate regulating hormone concentration, Increased circulating co... |
ORPHA:3453 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Hyperthyroid... |
ORPHA:424 |
| Hyperthyroidism, Nonautoimmune |
|
Thyroid hyperplasia, Goiter, Increased circulating free T3, Increased circulating T4 concentratio... |
OMIM:609152 |
| Maffucci Syndrome |
|
Pituitary adenoma, Goiter, Neoplasm of the parathyroid gland, Parathyroid adenoma, Ovarian neopla... |
ORPHA:163634 |
| Adult Idiopathic Neutropenia |
|
Monocytopenia, Lymphopenia, Neutropenia, Monocytosis |
ORPHA:2688 |
| Hypothyroidism, Congenital, Nongoitrous, 5 |
|
Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Decrea... |
OMIM:225250 |
| Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
| Anaplastic Thyroid Carcinoma |
|
Nodular goiter, Anaplastic thyroid carcinoma, Goiter |
ORPHA:142 |
| Thrombocytopenia 1 |
|
Decreased mean platelet volume, Congenital thrombocytopenia, Intermittent thrombocytopenia |
OMIM:313900 |
| Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
| Medullary Thyroid Carcinoma |
|
Elevated circulating calcitonin concentration, Pheochromocytoma, Medullary thyroid carcinoma, Abn... |
ORPHA:1332 |
| Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenogenital syndrome, Adrenal hyperplasia |
OMIM:202110 |
| Neutropenia, Severe Congenital, 10, Autosomal Recessive |
|
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia |
OMIM:620534 |
| Genetic Transient Congenital Hypothyroidism |
|
Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin... |
ORPHA:226316 |
| Familial Hyperaldosteronism Type Iii |
|
Adrenal hyperplasia, Hypokalemia, Abnormal circulating renin, Hypercalciuria, Glucocortocoid-inse... |
ORPHA:251274 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Giant platelets, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Thrombocy... |
OMIM:155100 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... |
OMIM:202700 |
| Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Elevated circulating 17-hydroxyprogesterone concentration, Microphallus, Adrenal insufficiency, I... |
OMIM:201810 |
| Bleeding Disorder, Platelet-Type, 25 |
|
Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Impaired coll... |
OMIM:620486 |
| Myh9-Related Disease |
|
Nephropathy, Nephritis, Giant platelets, Renal insufficiency, Proteinuria, Congenital thrombocyto... |
ORPHA:182050 |
| Giant platelet syndrome with thrombocytopenia |
|
Giant platelets, Thrombocytopenia |
OMIM:137560 |
| Pediatric-Onset Graves Disease |
|
Graves disease, Goiter, Puberty and gonadal disorders, Splenomegaly, Increased circulating free T... |
ORPHA:525731 |
| Primary Unilateral Adrenal Hyperplasia |
|
Increased urinary potassium, Adrenal hyperplasia, Decreased circulating renin level, Hypokalemia,... |
ORPHA:231580 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Decreased circulating T4 ... |
ORPHA:226313 |
| Maternal Uniparental Disomy Of Chromosome 6 |
|
Congenital adrenal hyperplasia, Hydrocele testis, Increased serum testosterone level, Thrombocyto... |
ORPHA:96181 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Elevated circulating luteinizing hormone level, Absence of pubertal development, Ovarian cyst, De... |
ORPHA:90793 |
| Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Primary hypercortisolism, Diabetes mellitus, Increased circulating cortisol level, Adrenal hyperp... |
OMIM:615830 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Pancytopen... |
OMIM:618986 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Nephropathy, Focal segmental glomerulosclerosis, Chronic kidney disease, Elevated circulating cre... |
OMIM:617056 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Elevated circulating thyroid-stimulating hormone concentration, Elevated circulating creatinine c... |
OMIM:617872 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Decreased mean platelet volume, Lymphocytosis, Elevated circulating C-reactive protein concentrat... |
OMIM:617718 |
| Renal Failure, Progressive, With Hypertension |
|
Nephritis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal i... |
OMIM:161900 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Hyperaldosteronism, Adrenal hyperplasia, Nephrolithiasis, Hypokalemia, Abnormal circulating renin |
ORPHA:369929 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Premature adrenarche, Elevated circulating 17-hydroxyprogesterone concentration, Congenital adren... |
ORPHA:90791 |
| Wiskott-Aldrich Syndrome |
|
Decreased mean platelet volume, Decreased proportion of CD8-positive T cells, Lymphopenia, Decrea... |
OMIM:301000 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Macronodular adrenal ... |
OMIM:615954 |
| Cowden Syndrome 7 |
|
Hashimoto thyroiditis, Papillary thyroid carcinoma, Ductal carcinoma in situ, Goiter |
OMIM:616858 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
| Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas |
ORPHA:65288 |
| Mccune-Albright Syndrome |
|
Precocious puberty, Increased circulating cortisol level, Increased circulating prolactin concent... |
ORPHA:562 |
| Thrombotic Thrombocytopenic Purpura |
|
Acute kidney injury, Microangiopathic hemolytic anemia, Renal insufficiency, Reticulocytosis, Hem... |
ORPHA:54057 |
| Cowden Syndrome 5 |
|
Thyroid adenoma, Goiter, Ovarian cyst, Hypothyroidism, Hyperthyroidism, Hydrocele testis, Thyroid... |
OMIM:615108 |
| Cowden Syndrome 1 |
|
Thyroid adenoma, Goiter, Lymphopenia, Ovarian cyst, Ovarian carcinoma, Hypothyroidism, Hyperthyro... |
OMIM:158350 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Hypochromic anemia, Cryptorchidism, Anemia of inadequate production, Anisocytosis, Poikilocytosis... |
ORPHA:67044 |
| Dietary Iron Overload Disease |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Abnormal thyroid morphology, Increased circulating c... |
ORPHA:139507 |
| Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Giant platelets, Thrombo... |
OMIM:231200 |
| Cowden Syndrome 6 |
|
Thyroid adenoma, Goiter, Ovarian cyst, Hypothyroidism, Hyperthyroidism, Hydrocele testis, Thyroid... |
OMIM:615109 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impa... |
OMIM:617443 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... |
OMIM:612924 |
| Slc35A1-Cdg |
|
Thrombocytopenia, Neutropenia, Giant platelets, Abnormal platelet granules |
ORPHA:238459 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, Decreased testicular siz... |
OMIM:202010 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... |
OMIM:612926 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Decreased circulating T4 ... |
OMIM:218700 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... |
OMIM:612925 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Increased urina... |
ORPHA:189427 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impaired collagen-relate... |
OMIM:153670 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Abnormal circulating androgen level, Increased circulating ACTH level, Adrenal hyperplasia, Hypon... |
ORPHA:90790 |
| Pancreatic Agenesis 2 |
|
Exocrine pancreatic insufficiency, Diabetes mellitus, Pancreatic hypoplasia, Pancreatic aplasia |
OMIM:615935 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Increased pituitary glycoprotein hormone alpha subunit level, Increased circulating prolactin con... |
ORPHA:90674 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Pancytopenia, Splenomegaly, Lymphocytosis, Neutropenia, Monocytosis, Leukemia, Autoimmune thrombo... |
OMIM:614470 |
| Multiple Endocrine Neoplasia, Type Iia |
|
Thyroid C cell hyperplasia, Hyperparathyroidism, Increased circulating cortisol level, Pheochromo... |
OMIM:171400 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hypernatriuria, Abnormal circulating aldosterone, Decreased circulating renin level, Hyponatremia... |
OMIM:300539 |
| Sitosterolemia 1 |
|
Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Reticulocytosis, Splenomegaly, Redu... |
OMIM:210250 |
| Pelger-Huet Anomaly |
|
Giant platelets, Hyposegmentation of neutrophil nuclei, Thrombocytopenia, Neutropenia, Abnormalit... |
OMIM:169400 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis... |
ORPHA:786 |
| Interstitial Nephritis, Karyomegalic |
|
Nephronophthisis, Renal tubular cyst, Glycosuria, Elevated circulating creatinine concentration, ... |
OMIM:614817 |
| Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Leukopenia, Acute myeloid leukemia, Refractory anemia, Monocytosis |
OMIM:616871 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Abnormal vertebral morphology, Elevated circulating luteinizing hormone level, Cryptorchidism, Ad... |
ORPHA:95699 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Hyperparathyroidism, Stage 3 chronic kidney disease, Elevated circulating creatinine concentratio... |
OMIM:620366 |
| Pancreatic Agenesis 1 |
|
Exocrine pancreatic insufficiency, Neonatal insulin-dependent diabetes mellitus, Pancreatic hypop... |
OMIM:260370 |
| Duodenal Atresia |
|
Annular pancreas, Abnormality of the pancreas |
ORPHA:1203 |
| Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Increased circulating prolactin concentration, Decreased circulating T4 concentration, Reduced ra... |
ORPHA:99832 |
| Carney Complex, Type 1 |
|
Pituitary adenoma, Pheochromocytoma, Thyroid carcinoma, Thyroid follicular hyperplasia, Elevated ... |
OMIM:160980 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Hydronephrosis, Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
| Annular Pancreas |
|
Annular pancreas |
ORPHA:675 |
| Pancreas, Annular |
|
Annular pancreas |
OMIM:167750 |
| Perlman Syndrome |
|
Hepatomegaly, Hyperinsulinemia, Cryptorchidism, Abnormal pancreas morphology |
ORPHA:2849 |
| Multiple Endocrine Neoplasia Type 1 |
|
Increased serum serotonin, Increased circulating cortisol level, Pituitary prolactin cell adenoma... |
ORPHA:652 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis |
OMIM:619281 |
| Beckwith-Wiedemann Syndrome |
|
Pancreatic hyperplasia, Adrenocortical cytomegaly, Cryptorchidism, Adrenocortical carcinoma, Card... |
OMIM:130650 |
| Relapsing Fever |
|
Acute kidney injury, Increased total bilirubin, Elevated circulating creatinine concentration, Le... |
ORPHA:91547 |
| Familial Multinodular Goiter |
|
Sertoli cell neoplasm, Thyroid carcinoma, Multinodular goiter, Testicular seminoma, Ovarian neoplasm |
ORPHA:276399 |
| Familial Adenomatous Polyposis |
|
Neoplasm of the gallbladder, Pituitary adenoma, Goiter, Pancreatic adenocarcinoma, Abnormality of... |
ORPHA:733 |
| Hereditary Chronic Pancreatitis |
|
Leukocytosis, Pancreatic calcification, Recurrent pancreatitis, Jaundice, Diabetes mellitus |
ORPHA:676 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Giant platelets, Renal insufficiency, Butterfly vertebrae, Cryptorchidism, Vertebral segmentation... |
OMIM:611209 |
| Idiopathic Non-Lupus Full-House Nephropathy |
|
Acute kidney injury, Elevated circulating creatinine concentration, Renal insufficiency, Proteinu... |
ORPHA:567544 |
| Cushing Disease |
|
Increased circulating cortisol level, Increased urinary cortisol level, Lymphopenia, Increased ci... |
ORPHA:96253 |
| Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature |
|
Lymphopenia, Leukopenia, Elevated circulating creatinine concentration, Reduced haptoglobin level... |
OMIM:301110 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation |
OMIM:124900 |
| Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Macrothrombocytopenia, Impaired platelet aggregation |
OMIM:613112 |
| Tsh-Secreting Pituitary Adenoma |
|
Secondary growth hormone deficiency, Male hypogonadism, Adrenocorticotropin deficient adrenal ins... |
ORPHA:91347 |
| Preeclampsia |
|
Chronic kidney disease, Acute kidney injury, Type I diabetes mellitus, Elevated circulating creat... |
ORPHA:275555 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Oliguria, Elevated circulating creatinine concentration, Urolithiasis, Renal insufficiency, 2,8-d... |
OMIM:614723 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Hypoalbuminemia, Elevated circulating creatinine concentration, Decreased circulating T4 concentr... |
OMIM:608104 |
| Yellow Fever |
|
Pancreatic hyperplasia, Leukocytosis, Thrombocytopenia, Neutrophilia, Jaundice, Acute pancreatitis |
ORPHA:99829 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Anemia, Macrothrombocytopenia, Thrombocytopenia |
OMIM:616176 |
| Pancreatitis, Hereditary |
|
Exocrine pancreatic insufficiency, Pancreatic calcification, Pancreatitis, Diabetes mellitus, Pan... |
OMIM:167800 |
| Tropical Pancreatitis |
|
Insulin-dependent but ketosis-resistant diabetes, Pancreatic adenocarcinoma, Chronic calcifying p... |
ORPHA:103918 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia |
OMIM:617744 |
| Ichthyosis, Impaired Intellectual Development, Dwarfism, And Renal Impairment |
|
Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate |
OMIM:242530 |
| Spherocytosis, Type 5 |
|
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... |
OMIM:612690 |
| Immunodeficiency 15B |
|
Reduced natural killer cell count, Monocytosis |
OMIM:615592 |
| Renal Tubular Acidosis, Distal, 1 |
|
Nephrocalcinosis, Elevated circulating creatinine concentration, Distal renal tubular acidosis, I... |
OMIM:179800 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Elevated circulating thyroid-stimulating hormone concentration, Decreased circulating T4 concentr... |
ORPHA:90673 |
| Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Renal insufficiency, Elevated circulating C-r... |
OMIM:619644 |
| Sickle Cell Anemia |
|
Splenic infarction, Cholelithiasis, Hypochromic anemia, Increased mean corpuscular volume, Pigmen... |
ORPHA:232 |
| Hypouricemia, Renal, 1 |
|
Hypouricemia, Acute kidney injury, Oliguria, Elevated circulating creatinine concentration, Uroli... |
OMIM:220150 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Nodular goiter, Premature thelarche, Type I diabetes mellitus, Polycystic ovaries |
ORPHA:371428 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Reticulocytosis... |
OMIM:274150 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... |
OMIM:235400 |
| Matthew-Wood Syndrome |
|
Abnormal spleen morphology, Annular pancreas, Cryptorchidism, Aplasia/Hypoplasia of the pancreas |
ORPHA:2470 |
| Takenouchi-Kosaki Syndrome |
|
Unilateral renal agenesis, Cryptorchidism, Hydronephrosis, Thrombocytopenia, Scoliosis, Hypospadi... |
OMIM:616737 |
| Nephronophthisis-Like Nephropathy 2 |
|
Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal insufficienc... |
OMIM:619468 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Increased circulating cortisol level, Increased urinary cortisol level, Lymphopenia, Adrenal hype... |
ORPHA:99889 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Goiter, Abnormality of the liver, Left ventricular hypertrophy, Hypothyroidism, Hyperthyroidism, ... |
ORPHA:254892 |
| Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Multinodular goiter |
OMIM:618373 |
| Thyroid Ectopia |
|
Elevated circulating thyroid-stimulating hormone concentration, Abnormality of the thyroid gland,... |
ORPHA:95712 |
| Thyroid Hypoplasia |
|
Jaundice, Hypothyroidism, Thyroid hypoplasia |
ORPHA:95720 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Impaired renal uric acid clearance, Renal hypoplasia, Elevated circulating creatinine concentrati... |
OMIM:174000 |
| Multiple Endocrine Neoplasia, Type Iib |
|
Elevated circulating calcitonin concentration, Pheochromocytoma, Medullary thyroid carcinoma, Nod... |
OMIM:162300 |
| Brain-Lung-Thyroid Syndrome |
|
Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Abnorm... |
ORPHA:209905 |
| Senior-Loken Syndrome 1 |
|
Nephronophthisis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, ... |
OMIM:266900 |
| Syndromic Diarrhea |
|
Hepatic fibrosis, Lymphopenia, Abnormality of the liver, Splenomegaly, Hypoplasia of the thymus, ... |
ORPHA:84064 |
| Congenital Disorder Of Glycosylation, Type Iit |
|
Hypotriglyceridemia, Decreased serum creatinine, Iron deficiency anemia, Pineal cyst, Decreased H... |
OMIM:618885 |
| Martinez-Frias Syndrome |
|
Extrahepatic biliary duct atresia, Annular pancreas, Pancreatic hypoplasia, Hypoplasia of the gal... |
OMIM:601346 |
| Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay |
|
Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume |
OMIM:620475 |
| C3 Glomerulopathy |
|
Chronic kidney disease, Acute kidney injury, Elevated circulating creatinine concentration, Stage... |
ORPHA:329918 |
| Diffuse Alveolar Hemorrhage |
|
Elevated circulating creatinine concentration, Leukocytosis, Hematuria, Proteinuria, Thrombocytop... |
ORPHA:90060 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Elevated circulating guanidinoacetic acid concentration, Decreased serum creatinine |
OMIM:612736 |
| Campomelia, Cumming Type |
|
Pancreatic cysts, Polycystic liver disease, Polysplenia |
OMIM:211890 |
| Nephronophthisis 2 |
|
Nephronophthisis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, ... |
OMIM:602088 |
| Doors Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Nephrocalcinosis, Congenital hypothyroidism, A... |
ORPHA:79500 |
| Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Hypothyroidism, Delayed puberty, Abno... |
ORPHA:456312 |
| Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Nephropathy, Acute kidney injury, Elevated circulating creatinine concentration, Renal insufficie... |
ORPHA:79233 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole... |
OMIM:208540 |
| Fanconi Renotubular Syndrome 3 |
|
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Elevated circulating creatinine conc... |
OMIM:615605 |
| Branchiootorenal Syndrome 1 |
|
Euthyroid goiter |
OMIM:113650 |
| Bernard-Soulier Syndrome |
|
Giant platelets, Decreased platelet glycoprotein Ib-IX-V, Macroscopic hematuria, Impaired ristoce... |
ORPHA:274 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Enlarged lacrimal glands, Abnormality of the submandibular glands, Enlargement of parotid gland, ... |
ORPHA:79078 |
| Tropical Calcific Pancreatitis |
|
Pancreatic calcification, Insulin-dependent but ketosis-resistant diabetes, Chronic pancreatitis,... |
OMIM:608189 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Elevated circulating creatinine concentration, Abnormal renal corticomedullary differentiation |
OMIM:616733 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Nephropathy, Abnormal urinary electrolyte concentration, Decreased HDL cholesterol concentration,... |
ORPHA:85450 |
| Cowden Syndrome |
|
Follicular thyroid carcinoma, Goiter, Neoplasm of the thyroid gland, Abnormality of the thyroid g... |
ORPHA:201 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutropenia, Monocytosis, Leu... |
ORPHA:486 |
| Mitchell-Riley Syndrome |
|
Annular pancreas, Pancreatic hypoplasia, Cholestasis, Absent gallbladder, Biliary atresia, Acholi... |
OMIM:615710 |
| Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Renal hypoplasia, Supernumerary nipple, Elevated circulating creatinine concentration, Stage 5 ch... |
OMIM:614376 |
| Aapoaiv Amyloidosis |
|
Chronic kidney disease, Elevated circulating creatinine concentration, Hyperlipidemia, Proteinuri... |
ORPHA:439232 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Acute kidney injury, Elevated circulating creatinine concentration, Unilateral... |
ORPHA:49041 |
| Trichohepatoenteric Syndrome 1 |
|
Hepatic fibrosis, Cholestasis, Splenomegaly, Cirrhosis, Thrombocytosis, Hepatomegaly, Jaundice, A... |
OMIM:222470 |
| Alstrom Syndrome |
|
Insulin-resistant diabetes mellitus, Decreased response to growth hormone stimulation test, Hyper... |
OMIM:203800 |
| Mody |
|
Abnormal circulating insulin concentration, Pancreatic hypoplasia, Insulin-resistant diabetes mel... |
ORPHA:552 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Chronic kidney disease, Abnormal urinary electrolyte concentration, Pituitary growth hormone cell... |
ORPHA:730 |
| Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Thrombocytopenia, ... |
OMIM:617941 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Aminoaciduria, Decreased platelet glycoprotein Ib, Proteinuria, Thrombocytopenia, Neutropenia, Ma... |
OMIM:603585 |
| Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Cryptorchidism, Thyroid agenesis, Hypothyroidism, Thyroid dysgenesis, Thyroid hypoplasia, Ectopic... |
ORPHA:3047 |
| Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
|
Multinodular goiter |
OMIM:620189 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatic fibrosis, Pancreatic hypoplasia, Elevated circulating thyroid-stimulating hormone concent... |
OMIM:610199 |
| Cryoglobulinemia, Familial Mixed |
|
Chronic kidney disease, Elevated circulating creatinine concentration, Proteinuria, Hematuria, Ab... |
OMIM:123550 |
| Multiple Endocrine Neoplasia Type 2 |
|
Thyroid C cell hyperplasia, Paraganglioma of head and neck, Elevated circulating parathyroid horm... |
ORPHA:653 |
| Igg4-Related Submandibular Gland Disease |
|
Enlarged lacrimal glands, Abnormal pancreas morphology, Abnormality of the submandibular glands, ... |
ORPHA:449432 |
| Renal Tubular Acidosis, Proximal |
|
Elevated circulating creatinine concentration, Hypercalciuria, Proximal renal tubular acidosis |
OMIM:179830 |
| Bone Marrow Failure Syndrome 3 |
|
Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Exocrine pancrea... |
OMIM:617052 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Thyroid C cell hyperplasia |
OMIM:300952 |
| Immunodeficiency 113 With Autoimmunity And Autoinflammation |
|
Neutrophilia, Minimal change glomerulonephritis, Leukocytosis, Autoimmune hemolytic anemia, Splen... |
OMIM:620565 |
| Pallister-Hall Syndrome |
|
Precocious puberty, Decreased response to growth hormone stimulation test, Decreased testicular s... |
OMIM:146510 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal insufficienc... |
OMIM:613095 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Unilateral renal agenesis, Hydronephrosis, Thrombocytopenia, Abnormality of the endocrine system,... |
ORPHA:487796 |
| Aceruloplasminemia |
|
Abnormal pancreas morphology, Elevated hepatic iron concentration, Hypochromic microcytic anemia,... |
ORPHA:48818 |
| Pearson Marrow-Pancreas Syndrome |
|
Type I diabetes mellitus, Exocrine pancreatic insufficiency, Sideroblastic anemia, Pancytopenia, ... |
OMIM:557000 |
| 46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Hypospadias, Adrenal gland agenesis |
OMIM:611812 |
| Papillorenal Syndrome |
|
Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Elevate... |
OMIM:120330 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Abnormality of exocrine pancreas physiology, Aplasia/Hypoplasia of the pancreas, Hepatic steatosi... |
ORPHA:93111 |
| Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine |
ORPHA:289601 |
| Multiple Myeloma |
|
Nephropathy, Acute kidney injury, Elevated circulating creatinine concentration, Vertebral compre... |
ORPHA:29073 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... |
ORPHA:90038 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Cryptorchidism, Erythroid hypoplasia, ... |
OMIM:612541 |
| Juvenile Nephropathic Cystinosis |
|
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Proximal tubulopathy, Hypouricemi... |
ORPHA:411634 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Elevated urinary dopamine level, Elevated circulating creatinine concentration, Hyperinsulinemia,... |
ORPHA:230 |
| Carney Complex |
|
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level... |
ORPHA:1359 |
| Coach Syndrome 2 |
|
Elevated circulating creatinine concentration |
OMIM:619111 |
| Shwachman-Diamond Syndrome |
|
Normocytic anemia, Aplastic anemia, Increased mean corpuscular volume, Pancreatic hypoplasia, Hyp... |
ORPHA:811 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Increased total bilirubin, Elevated circulating creatinine concentration, Decreased plasma free c... |
OMIM:608836 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Normocytic anemia, Nephropathy, Elevated circulating creatinine concentration, Proteinuria, Compe... |
ORPHA:247691 |
| 46,Xy Sex Reversal 4 |
|
Elevated circulating creatinine concentration, Ureteropelvic junction obstruction, Hydronephrosis... |
OMIM:154230 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Hypopituitarism, Decreased circulating T4 concentration, Decreased c... |
ORPHA:226307 |
| Pancreatic And Cerebellar Agenesis |
|
Anemia, Diabetes mellitus, Pancreatic hypoplasia, Pancreatic aplasia |
OMIM:609069 |
| Glycogen Storage Disease Ib |
|
Splenomegaly, Delayed puberty, Pancreatitis, Pancreatic fibrosis, Neutropenia, Hepatomegaly, Enla... |
OMIM:232220 |
| Renal Cysts And Diabetes Syndrome |
|
Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Maturity-onset diabetes of the young, Pa... |
OMIM:137920 |
| Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Elevated circulating creatinine concentration, Myoglobinuria, Elevated circulating creatine kinas... |
OMIM:620138 |
| Feingold Syndrome |
|
Abnormality of the spleen, Annular pancreas |
ORPHA:1305 |
| Bacterial Toxic-Shock Syndrome |
|
Hypoalbuminemia, Elevated circulating creatinine concentration, Renal insufficiency, Hypocalcemia... |
ORPHA:36234 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Elevated circulating creatinine concentration, Glomerular sclerosis, Increased blood urea nitroge... |
OMIM:223900 |
| Phace Association |
|
Congenital hypothyroidism, Lingual thyroid |
OMIM:606519 |
| Acute Interstitial Pneumonia |
|
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... |
ORPHA:79126 |
| 17Q12 Microdeletion Syndrome |
|
Diabetes mellitus, Cryptorchidism, Pancreatic aplasia |
ORPHA:261265 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatic fibrosis, Exocrine pancreatic insufficiency, Hepatic steatosis, Hypothyroidism, Delayed p... |
OMIM:616263 |
| Acrocephalopolydactylous Dysplasia |
|
Hepatic fibrosis, Polysplenia, Pancreatic fibrosis, Hepatomegaly, Enlarged kidney |
OMIM:200995 |
| Hypomagnesemia 3, Renal |
|
Chronic kidney disease, Hyperphosphatemia, Hematuria, Macroscopic hematuria, Abnormal circulating... |
OMIM:248250 |
| Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Exocrine pancreatic insufficiency, Pancyto... |
ORPHA:699 |
| Oligomeganephronia |
|
Unilateral renal agenesis, Bilateral renal hypoplasia, Elevated circulating creatinine concentrat... |
ORPHA:2260 |
| Igg4-Related Kidney Disease |
|
Chronic kidney disease, Urethritis, Hematuria, Abnormality of the anterior pituitary, Elevated ci... |
ORPHA:449395 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Increased RBC distribution width, Absence of alpha granules, Thrombocytopenia, Macrothrombocytope... |
OMIM:187900 |
| Hemorrhagic Fever-Renal Syndrome |
|
Chronic kidney disease, Acute kidney injury, Oliguria, Hyperphosphatemia, Anuria, Elevated circul... |
ORPHA:340 |
| Nephronophthisis 13 |
|
Intrahepatic bile duct dilatation, Pancreatic cysts, Hepatic cysts |
OMIM:614377 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hyperbilirubinemia, Elevated circulating creatinine concentration, Acute kidney injury, Decreased... |
ORPHA:542323 |
| Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration |
OMIM:219750 |
| Meckel Syndrome, Type 7 |
|
Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Portal hypertension, Right ventricular hypert... |
OMIM:267010 |
| Dextrocardia |
|
Abnormality of the spleen, Abnormality of abdominal situs, Pancreatic hypoplasia |
ORPHA:1666 |
| Tetraamelia Syndrome 1 |
|
Asplenia, Urethral atresia, Adrenal gland agenesis |
OMIM:273395 |
| Marburg Hemorrhagic Fever |
|
Neutrophilia in presence of infection, Hypoalbuminemia, Lymphopenia, Abnormal lymphocyte morpholo... |
ORPHA:99826 |
| Fanconi Anemia, Complementation Group D2 |
|
Annular pancreas, Pancytopenia, Cryptorchidism, Anemia, Reticulocytopenia, Neutropenia, Thrombocy... |
OMIM:227646 |
| Senior-Loken Syndrome 8 |
|
Intrahepatic bile duct dilatation, Pancreatic cysts, Hepatic cysts |
OMIM:616307 |
| Von Hippel-Lindau Syndrome |
|
Polycythemia, Pheochromocytoma, Neoplasm of the pancreas, Hepatic hemangioma, Pancreatic cysts, P... |
OMIM:193300 |
| Hydrolethalus Syndrome 1 |
|
Accessory spleen, Adrenal gland dysgenesis, Hydronephrosis, Hypospadias |
OMIM:236680 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Type I diabetes mellitus, Pancreatic hypoplasia, Decreased response to growth hormone stimulation... |
OMIM:602782 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatic fibrosis, Periportal fibrosis, Portal hypertension, Splenomegaly, Hepatic cysts, Hepatome... |
OMIM:263200 |
| Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Congenital hypothyroidism, Thyroid hypoplasia |
ORPHA:521445 |
| Alveolar Echinococcosis |
|
Biliary cirrhosis, Cutaneous abscess, Abnormal mesentery morphology, Portal hypertension, Hepatic... |
ORPHA:284 |
| Congenital Alveolar Capillary Dysplasia |
|
Asplenia, Absent gallbladder, Annular pancreas |
ORPHA:210122 |
| Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Absent gallbladder, Pancreatic aplasia |
ORPHA:556955 |
| Beckwith-Wiedemann Syndrome |
|
Visceromegaly, Polycythemia, Abnormal pancreas morphology, Exocrine pancreatic insufficiency, Adr... |
ORPHA:116 |
| Phace Syndrome |
|
Hypothyroidism, Ectopic thyroid |
ORPHA:42775 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hepatic fibrosis, Bile duct proliferation, Pancreatic fibrosis, Jaundice, Pancreatic cysts, Polyc... |
OMIM:208500 |
| Atelosteogenesis Type I |
|
Abnormal pancreatic duct morphology |
ORPHA:1190 |
| Pauci-Immune Glomerulonephritis |
|
Acute kidney injury, Elevated circulating creatinine concentration, Decreased glomerular filtrati... |
ORPHA:93126 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Pancreatic fibrosis |
OMIM:615503 |
| Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Type I diabetes mellitus, Exocrine pancreatic insufficiency, Absent gallbladder, Diabetes insipid... |
OMIM:618500 |
| Kaposiform Lymphangiomatosis |
|
Hepatosplenomegaly, Splenomegaly, Abnormal spleen morphology, Thrombocytopenia, Anemia, Pancreati... |
ORPHA:464329 |
| Bohring-Opitz Syndrome |
|
Hyperechogenic pancreas, Supernumerary nipple |
OMIM:605039 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Anterior pituitary agenesis, Pancreatic hypoplasia,... |
ORPHA:2255 |
| Stüve-Wiedemann Syndrome |
|
Hypothyroidism, Ectopic thyroid |
ORPHA:3206 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Decreased serum insulin-like growth factor 1, Annular pancreas |
OMIM:618162 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Abnormality of the hypothalamus-pituitary axis, Adrenal hypoplasia, Thyroid hypoplasia, Cryptorch... |
ORPHA:2166 |
| Jacobsen Syndrome |
|
Annular pancreas, Cryptorchidism, Thrombocytopenia |
OMIM:147791 |
| Nephronophthisis-Like Nephropathy 1 |
|
Pancreatic cysts, Chronic pancreatitis |
OMIM:613159 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Absent nipple, Congenital hypothyroidism, Aplasia of the thymus, Hypothyroidism, Hypoplastic nipp... |
OMIM:620186 |
| Liver Disease, Severe Congenital |
|
Portal inflammation, Hepatic steatosis, Abnormal hepatic echogenicity, Hepatomegaly, Jaundice, In... |
OMIM:619991 |
| Meckel Syndrome |
|
Accessory spleen, Cryptorchidism, Congenital hepatic fibrosis, Pancreatic fibrosis, Asplenia, Pan... |
ORPHA:564 |
| Treacher-Collins Syndrome |
|
Hypoplasia of the thymus, Abnormality of the adrenal glands, Thyroid hypoplasia, Cryptorchidism |
ORPHA:861 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Renal cyst, Elevated circulating creatinine concentration, Renal insufficiency |
OMIM:617478 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Neonatal insulin-dependent diabetes mellitus, Reduced pancreatic beta cells, Pancreatic hypoplasia |
ORPHA:99885 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Thyroid hypoplasia, Adrenal hypoplasia |
OMIM:308050 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Hepatic fibrosis, Periportal fibrosis, Cholestasis, Hepatosplenomegaly, Hypersplenism, Portal hyp... |
ORPHA:731 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Aminoaciduria, Beta 2-microglobulinuria, Sterile pyuria, Elevated circulating ... |
ORPHA:91500 |
| Distal Deletion 12Q |
|
Congenital hypertrophy of left ventricle, Annular pancreas, Maturity-onset diabetes of the young,... |
ORPHA:96149 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Cholelithiasis, Pancreatic hypoplasia, Cryptorchidism, Biliary hyperplasia, Hepatomegaly, B lymph... |
ORPHA:83617 |
| Feingold Syndrome 1 |
|
Accessory spleen, Asplenia, Annular pancreas, Polysplenia |
OMIM:164280 |
| Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Annular pancreas |
ORPHA:488642 |
| Jacobsen Syndrome |
|
Annular pancreas, Cryptorchidism, Thrombocytopenia |
ORPHA:2308 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Hypogonadism, Annular pancreas, Cryptorchidism |
OMIM:268400 |
| Osteogenesis Imperfecta |
|
Cervical kyphosis, Abnormal form of the vertebral bodies, Enlarged vertebral pedicles, Biconcave ... |
ORPHA:666 |
| Von Hippel-Lindau Disease |
|
Elevated circulating catecholamine level, Polycythemia, Neoplasm of the pancreas, Pancreatic isle... |
ORPHA:892 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Hepatic fibrosis, Pancreatic fibrosis |
OMIM:263520 |
| Bohring-Opitz Syndrome |
|
Cardiomegaly, Cholelithiasis, Annular pancreas |
ORPHA:97297 |
| Trisomy 8P |
|
Aplasia/Hypoplasia of the gallbladder, Annular pancreas, Cryptorchidism |
ORPHA:264450 |
| Cardiogenic Shock |
|
Elevated circulating creatinine concentration, Oliguria |
ORPHA:97292 |
| Myhre Syndrome |
|
Platyspondyly, Enlarged vertebral pedicles, Cryptorchidism, Short neck, Vertebral fusion |
|
