Cephalin Lipidosis |
|
Abnormality of the spleen |
OMIM:212800 |
Asplenia, Isolated Congenital |
|
Asplenia, Howell-Jolly bodies, Thrombocytosis |
OMIM:271400 |
Tuftsin Deficiency |
|
Abnormality of the spleen |
OMIM:191150 |
Laterality Defects, Autosomal Dominant |
|
Asplenia |
OMIM:601086 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Asplenia |
OMIM:618948 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... |
ORPHA:251380 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Abnormal lymph node morphology, Nodular goiter, Follicular thyroid carcinoma, Chronic noninfectio... |
ORPHA:319487 |
Thyroid Dyshormonogenesis 3 |
|
Goiter, Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma |
OMIM:274700 |
Stormorken-Sjaastad-Langslet Syndrome |
|
Asplenia, Anemia |
ORPHA:3204 |
Thyroid Cancer, Nonmedullary, 1 |
|
Non-medullary thyroid carcinoma, Papillary thyroid carcinoma, Goiter |
OMIM:188550 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Ceroid storage disease |
|
Abnormality of the spleen |
OMIM:214200 |
Thyroid Dyshormonogenesis 2A |
|
Hypothyroidism, Thyroid defect in oxidation and organification of iodide, Decreased circulating T... |
OMIM:274500 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Abnormal lymph node morphology, Nodular goiter, Chronic noninfectious lymphadenopathy, Papillary ... |
ORPHA:97290 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Bilateral microphthalmos, Anophthalmia |
OMIM:611638 |
Thyroid Hormone Resistance, Generalized, Autosomal Dominant |
|
Goiter, Impaired sensitivity to thyroid hormone, Increased circulating free T4 concentration, Inc... |
OMIM:188570 |
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 |
Hypoglossia With Situs Inversus |
|
Asplenia, Polysplenia |
OMIM:612776 |
Deiodinase, iodothyronine, type I |
|
Goiter, Euthyroid hyperthyroxinemia |
OMIM:147892 |
Thyroid Hormone Plasma Membrane Transport Defect |
|
Goiter, Euthyroid hyperthyroxinemia |
OMIM:188560 |
Heme Oxygenase 1 Deficiency |
|
Asplenia, Hemolytic anemia, Coombs-positive hemolytic anemia, Lymphadenopathy, Thrombocytosis, He... |
OMIM:614034 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Anaplastic Thyroid Carcinoma |
|
Nodular goiter, Laryngotracheal stenosis, Anaplastic thyroid carcinoma, Tracheoesophageal fistula... |
ORPHA:142 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormal lymph node morphology |
OMIM:136580 |
Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia, Cryptorchidism |
OMIM:615524 |
Pendred Syndrome |
|
Goiter, Compensated hypothyroidism, Thyroid carcinoma |
OMIM:274600 |
Hypothyroidism, Congenital, Nongoitrous, 1 |
|
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Thyroid hypoplasi... |
OMIM:275200 |
Fetal Iodine Deficiency Disorder |
|
Congenital goiter, Congenital hypothyroidism |
OMIM:228355 |
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum |
|
Goiter, Primary hypothyroidism |
OMIM:225040 |
Thyroid Cancer, Nonmedullary, 4 |
|
Papillary thyroid carcinoma, Goiter, Ovarian neoplasm |
OMIM:616534 |
Thyroid Lymphoma |
|
Hypothyroidism, Hyperthyroidism, Hashimoto thyroiditis, Lymphadenopathy, Goiter |
ORPHA:97285 |
Pendred Syndrome |
|
Hypothyroidism, Thyroid carcinoma, Tracheal stenosis, Hyperparathyroidism, Goiter |
ORPHA:705 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Elevated circulating thyroid-stimulating hormone concentration, Type II diabetes mellitus, Increa... |
OMIM:274300 |
Bangstad Syndrome |
|
Primary gonadal insufficiency, Abnormally large globe, Goiter, Insulin-resistant diabetes mellitus |
OMIM:210740 |
Goiter, Multinodular 2 |
|
Euthyroid multinodular goiter |
OMIM:300273 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
Rhabdomyosarcoma, Embryonal, 2 |
|
Ovarian thecoma, Thyroid nodule, Multinodular goiter, Goiter |
OMIM:180295 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Absence of lymph node germinal center |
OMIM:235550 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy |
OMIM:616126 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:600776 |
Squamous Cell Carcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99977 |
Hereditary Progressive Mucinous Histiocytosis |
|
Lymphadenopathy |
ORPHA:158025 |
Igg4-Related Thyroid Disease |
|
Hypothyroidism, Nodular goiter, Thyroiditis, Thyrotoxicosis with diffuse goiter, Tracheal stenosi... |
ORPHA:64744 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Asplenia, Hepatic fibrosis, Malformation of the hepatic ductal plate, Cholestasis, Hepatomegaly, ... |
OMIM:615415 |
Hypothyroidism, Congenital, Nongoitrous, 5 |
|
Hypothyroidism, Decreased circulating free T4 concentration, Elevated circulating thyroid-stimula... |
OMIM:225250 |
Stormorken Syndrome |
|
Asplenia, Anemia, Howell-Jolly bodies, Thrombocytopenia, Hypoplastic spleen |
OMIM:185070 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Pancreatic cysts, Asplenia, Biliary cirrhosis, Hepatic fibrosis, Cirrhosis, Polysplenia, Malforma... |
OMIM:208540 |
Permanent Congenital Hypothyroidism |
|
Hypothyroidism, Thyroid dysgenesis, Goiter |
ORPHA:226292 |
Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Anophthalmia, Cryptorchidism |
OMIM:164180 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Hyperthyroidism, Increased circulating T4 concentration, Decreased thyroid-stimulating hormone le... |
OMIM:613239 |
Gracile Bone Dysplasia |
|
Asplenia, Hypoplastic spleen |
OMIM:602361 |
Blepharochalasis And Double Lip |
|
Goiter |
OMIM:109900 |
Graves Disease, Susceptibility To, 1 |
|
Increased circulating free T3, Decreased thyroid-stimulating hormone level, Graves disease, Incre... |
OMIM:275000 |
Microphthalmia, Isolated 8 |
|
Microphthalmia, True anophthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:615113 |
Familial Thyroid Dyshormonogenesis |
|
Increased radioactive iodine uptake, Elevated circulating thyroid-stimulating hormone concentrati... |
ORPHA:95716 |
Anencephaly 2 |
|
Anophthalmia |
OMIM:619452 |
Medullary Thyroid Carcinoma |
|
Nodular goiter, Pheochromocytoma, Elevated calcitonin, Lymphadenopathy, Medullary thyroid carcino... |
ORPHA:1332 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Goiter |
OMIM:600791 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Thymoma, Asplenia, Cirrhosis, Hepatitis, Exocrine pancreatic insufficiency, Chronic hepatitis, Ir... |
OMIM:269200 |
Thyroid Dyshormonogenesis 1 |
|
Hypothyroidism, Goiter |
OMIM:274400 |
Reticuloendotheliosis, X-Linked |
|
Lymphadenopathy, Hepatosplenomegaly |
OMIM:312500 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multinodular goiter |
ORPHA:2091 |
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies |
|
Multinodular goiter |
OMIM:138790 |
Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Abnormality of thyroid physiology, Reduced radioactive iodine uptake, Decreased thyroid-stimulati... |
ORPHA:95715 |
Hypothyroidism, Congenital, Nongoitrous, 9 |
|
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu... |
OMIM:301035 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Increased circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone c... |
ORPHA:99832 |
Retinal Dystrophy With Or Without Extraocular Anomalies |
|
Goiter |
OMIM:617175 |
Heterotaxy, Visceral, 2, Autosomal |
|
Asplenia, Polysplenia, Abdominal situs inversus |
OMIM:605376 |
Matthew-Wood Syndrome |
|
Aplasia/Hypoplasia of the pancreas, Anophthalmia, Annular pancreas, Abnormal spleen morphology, M... |
ORPHA:2470 |
Hydrolethalus |
|
Tracheal atresia, Microphthalmia, Anophthalmia, Cryptorchidism |
ORPHA:2189 |
Maffucci Syndrome |
|
Parathyroid adenoma, Neoplasm of the parathyroid gland, Neoplasm of the adrenal cortex, Pituitary... |
ORPHA:163634 |
Meckel Syndrome, Type 8 |
|
Microphthalmia, Anophthalmia |
OMIM:613885 |
Congenital Hypothyroidism |
|
Hypothyroidism, Hypogonadism, Anterior hypopituitarism, Tracheoesophageal fistula, Abnormality of... |
ORPHA:442 |
Kerion Celsi |
|
Lymphadenopathy |
ORPHA:499 |
Ascher Syndrome |
|
Hypothyroidism, Goiter |
ORPHA:1253 |
Right Atrial Isomerism |
|
Asplenia, Polysplenia, Abdominal situs ambiguus |
OMIM:208530 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Tracheoesophageal fistula, Microphthalmia, Anophthalmia, Cryptorchidism |
ORPHA:77298 |
Primary Ciliary Dyskinesia |
|
Asplenia, Polysplenia |
ORPHA:244 |
Immunodeficiency 75 With Lymphoproliferation |
|
Lymphadenopathy, Follicular hyperplasia, Hepatosplenomegaly |
OMIM:619126 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Anophthalmia |
ORPHA:411986 |
Ciliary Dyskinesia, Primary, 37 |
|
Hypothyroidism, Goiter |
OMIM:617577 |
Glutaric Aciduria Iii |
|
Hyperthyroidism, Goiter |
OMIM:231690 |
Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:248450 |
Thyrocerebroretinal Syndrome |
|
Goiter |
OMIM:274240 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Increased radioactive iodine uptake, Elevated circulating thyroid-stimulating hormone concentrati... |
ORPHA:90673 |
Ciliary Dyskinesia, Primary, 1 |
|
Asplenia |
OMIM:244400 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Asplenia, Cholelithiasis, Chronic active hepatitis |
OMIM:240300 |
Thyrocerebrorenal Syndrome |
|
Euthyroid goiter |
ORPHA:3327 |
Cardiofacioneurodevelopmental Syndrome |
|
Asplenia, Abdominal situs inversus |
OMIM:619123 |
Hyperthyroidism, Nonautoimmune |
|
Hyperthyroidism, Increased circulating T4 concentration, Thyroid hyperplasia, Increased circulati... |
OMIM:609152 |
Kimura Disease |
|
Lymphadenopathy, Follicular hyperplasia, Abnormal salivary gland morphology |
ORPHA:482 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hyperthyroidism, Goiter |
OMIM:188580 |
Familial Gestational Hyperthyroidism |
|
Activating thyroid-stimulating hormone receptor defect, Hyperthyroidism, Thyrotoxicosis with diff... |
ORPHA:99819 |
Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Anterior hypopituitarism, Decreased response to growth hormone stimulation test, ... |
OMIM:147250 |
Trisomy 13 |
|
Aplasia/Hypoplasia of the iris, Microphthalmia, Anophthalmia, Cryptorchidism |
ORPHA:3378 |
Microphthalmia, Syndromic 5 |
|
Anophthalmia, Optic nerve hypoplasia, Ectopic posterior pituitary, Microphthalmia, Cryptorchidism |
OMIM:610125 |
Genetic Transient Congenital Hypothyroidism |
|
Elevated circulating thyroid-stimulating hormone concentration, Abnormal radioactive iodine uptak... |
ORPHA:226316 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Congenital hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Decrea... |
ORPHA:226313 |
Microphthalmia With Brain And Digit Anomalies |
|
Microphthalmia, Abnormality of the hypothalamus-pituitary axis, Anophthalmia, Cryptorchidism |
ORPHA:139471 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Activating thyroid-stimulating hormone receptor defect, Hyperthyroidism, Thyrotoxicosis with diff... |
ORPHA:424 |
Sweeney-Cox Syndrome |
|
Asplenia |
OMIM:617746 |
Mosaic Trisomy 9 |
|
Asplenia, Abnormal liver lobulation |
ORPHA:99776 |
Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Asplenia, Annular pancreas |
ORPHA:210122 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Tracheal atresia, Neonatal death |
OMIM:601612 |
Pediatric-Onset Graves Disease |
|
Increased circulating T4 concentration, Thyrotoxicosis with diffuse goiter, Increased circulating... |
ORPHA:525731 |
Cowden Syndrome 5 |
|
Hypothyroidism, Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Go... |
OMIM:615108 |
Anophthalmia Plus Syndrome |
|
Anophthalmia |
ORPHA:1104 |
Cowden Syndrome 6 |
|
Hypothyroidism, Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Go... |
OMIM:615109 |
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Precocious puberty, Hyperthyroidism, Abnormal testis morphology, Neoplasm of the thyroid gland, P... |
ORPHA:457059 |
Cockayne Syndrome Type 2 |
|
Male hypogonadism, Anophthalmia, Cryptorchidism |
ORPHA:90322 |
Cerebrooculonasal Syndrome |
|
Anophthalmia |
ORPHA:66625 |
Feingold Syndrome 1 |
|
Asplenia, Polysplenia, Accessory spleen, Annular pancreas |
OMIM:164280 |
Pallister-Hall Syndrome |
|
Precocious puberty, Decreased response to growth hormone stimulation test, Decreased testicular s... |
OMIM:146510 |
Microphthalmia With Limb Anomalies |
|
Microphthalmia, Unilateral cryptorchidism, Anophthalmia |
OMIM:206920 |
Brain-Lung-Thyroid Syndrome |
|
Thyroid hemiagenesis, Elevated circulating thyroid-stimulating hormone concentration, Compensated... |
ORPHA:209905 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Thyroid hypoplasi... |
OMIM:218700 |
Mccune-Albright Syndrome |
|
Macroorchidism, Increased circulating prolactin concentration, Precocious puberty, Hyperthyroidis... |
ORPHA:562 |
Cowden Syndrome 1 |
|
Hypothyroidism, Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian carcinoma, Ovarian cyst, ... |
OMIM:158350 |
Congenital Respiratory-Biliary Fistula |
|
Tracheal stenosis |
ORPHA:2040 |
Thymic Neuroendocrine Tumor |
|
Increased circulating prolactin concentration, Neoplasm of the thymus, Neoplasm of the endocrine ... |
ORPHA:97289 |
Laryngotracheoesophageal Cleft Type 4 |
|
Tracheoesophageal fistula, Abnormality of the spleen, Tracheal stenosis |
ORPHA:93941 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hypothyroidism, Hashimoto thyroiditis, Goiter |
ORPHA:83601 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Asplenia |
OMIM:619657 |
Trisomy 1Q |
|
Anophthalmia, Cryptorchidism |
ORPHA:261344 |
Walker-Warburg Syndrome |
|
Microphthalmia, Anophthalmia, Cryptorchidism |
ORPHA:899 |
Meckel Syndrome |
|
Pancreatic cysts, Asplenia, Pancreatic fibrosis, Accessory spleen, Cystic liver disease, Congenit... |
ORPHA:564 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Macroorchidism, Increased circulating prolactin concentration, Increased pituitary glycoprotein h... |
ORPHA:90674 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Lymphadenopathy, Splenomegaly, Recurrent tonsillitis |
OMIM:618852 |
Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
Mast Cell Sarcoma |
|
Lymphadenopathy, Splenomegaly, Mediastinal lymphadenopathy |
ORPHA:66661 |
Microphthalmia, Syndromic 9 |
|
Anophthalmia, Multilobulated spleen, Bilateral microphthalmos, Cryptorchidism, Hypoplastic spleen |
OMIM:601186 |
Meckel Syndrome, Type 1 |
|
Asplenia, Malformation of the hepatic ductal plate, Bile duct proliferation, Accessory spleen, Sp... |
OMIM:249000 |
Multiple Endocrine Neoplasia Type 1 |
|
Pituitary thyrotropic cell adenoma, Pituitary corticotropic cell adenoma, Neoplasm of the pancrea... |
ORPHA:652 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphadenopathy, Splenomegaly |
ORPHA:444463 |
Cowden Syndrome 7 |
|
Hashimoto thyroiditis, Ductal carcinoma in situ, Papillary thyroid carcinoma, Goiter |
OMIM:616858 |
Multiple Endocrine Neoplasia, Type Iia |
|
Parathyroid adenoma, Increased circulating cortisol level, Pheochromocytoma, Elevated calcitonin,... |
OMIM:171400 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Lymphadenopathy |
OMIM:617772 |
Follicular Lymphoma |
|
Lymphadenopathy, Splenomegaly, Mediastinal lymphadenopathy |
ORPHA:545 |
Tsh-Secreting Pituitary Adenoma |
|
Enlarged pituitary gland, Female hypogonadism, Increased circulating prolactin concentration, Hyp... |
ORPHA:91347 |
Heterotaxy, Visceral, 1, X-Linked |
|
Asplenia, Biliary atresia, Polysplenia, Hepatomegaly, Abdominal situs inversus |
OMIM:306955 |
Vacterl With Hydrocephalus |
|
Tracheoesophageal fistula, Microphthalmia, Anophthalmia, Cryptorchidism |
ORPHA:3412 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Hypoplasia of the thymus, T lymphocytopenia, B lymphocytopenia... |
OMIM:619313 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:86893 |
Burkitt Lymphoma |
|
Abnormal lymph node morphology, Abnormality of the spleen, Abnormality of the ovary |
ORPHA:543 |
Microphthalmia, Syndromic 3 |
|
Anterior pituitary hypoplasia, Anophthalmia, Optic nerve aplasia, Optic nerve hypoplasia, Microph... |
OMIM:206900 |
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis |
|
Congenital hypothyroidism, Decreased response to growth hormone stimulation test, Tracheal stenosis |
OMIM:601427 |
Jung Syndrome |
|
Hypothyroidism, Tracheal stenosis |
ORPHA:2321 |
Immunodeficiency 32A |
|
Lymphadenitis, Lymphadenopathy |
OMIM:614893 |
Lymphoproliferative Syndrome 3 |
|
Lymphadenopathy, Hepatosplenomegaly |
OMIM:618261 |
Pseudoaminopterin Syndrome |
|
Asplenia |
ORPHA:221120 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Asplenia, Pulmonary lymphangiectasia, Annular pancreas |
OMIM:265380 |
Holoprosencephaly |
|
Diabetes insipidus, Anophthalmia, Anterior hypopituitarism, Panhypopituitarism, Diabetes mellitus... |
ORPHA:2162 |
14Q22Q23 Microdeletion Syndrome |
|
Diabetes insipidus, Anterior pituitary hypoplasia, Anophthalmia, Optic nerve aplasia, Cryptorchid... |
ORPHA:264200 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microphthalmia, Precocious puberty, Anophthalmia |
OMIM:615877 |
Cockayne Syndrome Type 1 |
|
Male hypogonadism, Anophthalmia, Cryptorchidism |
ORPHA:90321 |
Mounier-Kühn Syndrome |
|
Tracheal stenosis |
ORPHA:3347 |
Phace Association |
|
Lingual thyroid, Congenital hypothyroidism, Microphthalmia, Optic nerve hypoplasia |
OMIM:606519 |
Carney Complex, Type 1 |
|
Thyroid carcinoma, Pituitary adenoma, Pheochromocytoma, Thyroid follicular hyperplasia, Elevated ... |
OMIM:160980 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Hypothyroidism, Thyroid hypoplasia, Cryptorchidism, Thyroid agenesis, Thyroid dysgenesis, Ectopic... |
ORPHA:3047 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Hypoplastic spleen |
ORPHA:89844 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Microphthalmia, Anophthalmia, Hypogonadism, Cryptorchidism |
ORPHA:2250 |
Tracheal Agenesis |
|
Tracheal atresia |
ORPHA:3346 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Lymphadenopathy, Splenomegaly |
OMIM:615513 |
Microgastria-Limb Reduction Defect Syndrome |
|
Tracheoesophageal fistula, Abnormality of the spleen, Microphthalmia, Anophthalmia |
ORPHA:2538 |
Granulomatous Slack Skin |
|
Abnormal lymph node morphology |
ORPHA:33111 |
Thyroid Ectopia |
|
Hypothyroidism, Ectopic thyroid, Abnormality of the thyroid gland |
ORPHA:95712 |
Holoprosencephaly 9 |
|
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Anophthalmi... |
OMIM:610829 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Lymphadenopathy |
OMIM:608106 |
Tetraamelia Syndrome 1 |
|
Asplenia |
OMIM:273395 |
Immunodeficiency 64 With Lymphoproliferation |
|
Hepatosplenomegaly, Lymphadenopathy, Mediastinal lymphadenopathy, Cervical lymphadenopathy, Splen... |
OMIM:618534 |
Mu-Heavy Chain Disease |
|
Lymphadenopathy, Splenomegaly |
ORPHA:100024 |
Immunodeficiency, Common Variable, 2 |
|
Lymphadenopathy, Follicular hyperplasia, Splenomegaly |
OMIM:240500 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Lymphadenopathy, Hepatosplenomegaly |
OMIM:618982 |
Immunodeficiency 76 |
|
Lymphadenopathy, Splenomegaly |
OMIM:619164 |
Immunodeficiency 54 |
|
Adrenal insufficiency, Lymphadenopathy, Adrenocorticotropic hormone excess, Splenomegaly |
OMIM:609981 |
Heterotaxy, Visceral, 5, Autosomal |
|
Abdominal situs inversus, Asplenia, Abdominal situs ambiguus |
OMIM:270100 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Anophthalmia, Aniridia, Cryptorchidism |
ORPHA:1101 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Thyroiditis, Lymphadenopathy, Splenomegaly |
OMIM:619375 |
Autoimmune Polyendocrinopathy Type 4 |
|
Thymoma, Leukopenia, Biliary cirrhosis, Non-caseating epithelioid cell granulomatosis, Hepatitis,... |
ORPHA:227990 |
Familial Multinodular Goiter |
|
Hyperthyroidism, Thyroid carcinoma, Testicular seminoma, Multinodular goiter, Sertoli cell neopla... |
ORPHA:276399 |
Autoimmune Polyendocrinopathy Type 3 |
|
Thymoma, Leukopenia, Biliary cirrhosis, Non-caseating epithelioid cell granulomatosis, Hepatitis,... |
ORPHA:227982 |
Immunodeficiency 27A |
|
Lymphadenopathy, Enlarged mesenteric lymph node, Splenomegaly, Hepatosplenomegaly |
OMIM:209950 |
Thyroid Hypoplasia |
|
Hypothyroidism, Thyroid hypoplasia |
ORPHA:95720 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased circulating follicle stimulating hormone concentration, Anterior pituitary hypoplasia, ... |
ORPHA:226307 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Nodular goiter, Polycystic ovaries, Premature thelarche, Type I diabetes mellitus |
ORPHA:371428 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Lymphadenopathy, Follicular hyperplasia |
OMIM:619846 |
Fibular Hemimelia |
|
Anophthalmia |
ORPHA:93323 |
Phace Syndrome |
|
Hypothyroidism, Lens coloboma, Optic nerve hypoplasia, Microphthalmia, Ectopic thyroid |
ORPHA:42775 |
Alstrom Syndrome |
|
Hypothyroidism, Hyperinsulinemia, Diabetes insipidus, Decreased response to growth hormone stimul... |
OMIM:203800 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Hypothyroidism, Hyperthyroidism, Diabetes mellitus, Goiter |
ORPHA:254892 |
Familial Adenomatous Polyposis |
|
Pancreatic adenocarcinoma, Hypothyroidism, Thyroiditis, Pituitary adenoma, Neoplasm of the adrena... |
ORPHA:733 |
Pten Hamartoma Tumor Syndrome |
|
Thyroid adenoma, Multinodular goiter, Thyroid carcinoma |
ORPHA:306498 |
Immunodeficiency 10 |
|
Hypoplasia of the iris, Lymphadenopathy |
OMIM:612783 |
Charge Syndrome |
|
Anophthalmia, Anterior hypopituitarism, Tracheoesophageal fistula, Delayed puberty, Abnormality o... |
ORPHA:138 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Congenital hypothyroidism, Buphthalmos, Rieger anomaly, Thyroid hypoplasia |
ORPHA:521445 |
Cerebrooculonasal Syndrome |
|
Anophthalmia, Optic nerve hypoplasia |
OMIM:605627 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Abnormal lymph node morphology, Splenomegaly, Hepatosplenomegaly |
OMIM:612840 |
Multiple Endocrine Neoplasia Type 2 |
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Parathyroid adenoma, Parathyroid hyperplasia, Pheochromocytoma, Elevated calcitonin, Elevated cir... |
ORPHA:653 |
Charge Syndrome |
|
Hypothyroidism, Gonadotropin deficiency, Anophthalmia, Decreased response to growth hormone stimu... |
OMIM:214800 |
Multiple Endocrine Neoplasia, Type Iib |
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Nodular goiter, Parathyroid hyperplasia, Pheochromocytoma, Elevated calcitonin, Medullary thyroid... |
OMIM:162300 |
Nephroblastoma |
|
Lymphadenopathy, Aniridia |
ORPHA:654 |
Tetraamelia-Multiple Malformations Syndrome |
|
Microphthalmia, Cryptorchidism, Tracheal stenosis, Septo-optic dysplasia |
ORPHA:3301 |
Joubert Syndrome 21 |
|
Anophthalmia |
OMIM:615636 |
Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Lymphadenopathy, Mediastinal lymphadenopathy, Testicular neoplasm, Ovar... |
ORPHA:83469 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Thyroid C cell hyperplasia, Microphthalmia |
OMIM:300952 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
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Abnormal lymph node morphology, Abnormality of the lymphatic system, Abnormal testis morphology |
ORPHA:54251 |
Fish-Eye Disease |
|
Lymphadenopathy, Splenomegaly |
ORPHA:79292 |
Cowden Syndrome |
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Enlarged polycystic ovaries, Adenoma sebaceum, Neoplasm of the thyroid gland, Follicular thyroid ... |
ORPHA:201 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2526 |
Omenn Syndrome |
|
Hypothyroidism, Thyroiditis, Lymphadenopathy, Splenomegaly |
ORPHA:39041 |
Branchiootorenal Syndrome 1 |
|
Euthyroid goiter |
OMIM:113650 |
Fraser Syndrome 1 |
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Abnormality of the thymus, Bilateral microphthalmos, Anophthalmia, Cryptorchidism |
OMIM:219000 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Microphthalmia, Anophthalmia, Abnormal testis morphology |
ORPHA:2556 |
Treacher-Collins Syndrome |
|
Hypoplasia of the thymus, Thyroid hypoplasia, Tracheoesophageal fistula, Microphthalmia, Abnormal... |
ORPHA:861 |
Fraser Syndrome |
|
Microphthalmia, Cryptorchidism, Tracheal stenosis, Anophthalmia |
ORPHA:2052 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Nodular goiter, Thyroiditis, Abnormality of the submandibular glands, Lymphadenopathy, Abnormal s... |
ORPHA:79078 |
Microphthalmia, Syndromic 2 |
|
Hypothyroidism, Anophthalmia, Adrenal insufficiency, Microphthalmia, Cryptorchidism |
OMIM:300166 |
Mycosis Fungoides |
|
Lymphadenopathy |
OMIM:254400 |
Mirage Syndrome |
|
Leukopenia, Anemia, Lymphopenia, Thrombocytopenia, Hypoplastic spleen |
OMIM:617053 |
Microphthalmia, Syndromic 6 |
|
Female hypogonadism, Hypothyroidism, Anophthalmia, Anterior hypopituitarism, Microphthalmia, Cryp... |
OMIM:607932 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hypothyroidism, Thyroiditis, Enlarged tonsils, Type I diabetes mellitus, Hepatosplenomegaly, Lymp... |
OMIM:606367 |
Hurler-Scheie Syndrome |
|
Splenomegaly, Tracheal stenosis |
OMIM:607015 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Thyroid hypoplasia, Microphthalmia, Cryptorchidism, Abnormality of the hypothalamus-pituitary axi... |
ORPHA:2166 |
Focal Dermal Hypoplasia |
|
Anophthalmia, Supernumerary nipple, Microphthalmia, Cryptorchidism, Hypoplastic nipples, Aniridia |
OMIM:305600 |
Cold Agglutinin Disease |
|
Lymphadenopathy, Splenomegaly |
ORPHA:56425 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Abnormal lymph node morphology, Lymphadenopathy, Lymphadenitis, Hepatosplenomegaly |
ORPHA:911 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Asplenia |
ORPHA:261537 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Multinodular goiter |
OMIM:618373 |
Mowat-Wilson Syndrome |
|
Asplenia |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Asplenia |
ORPHA:261552 |
Proboscis Lateralis |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
ORPHA:141099 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Lymphadenitis, Hepatosplenomegaly, Lymphadenopathy, Splenomegaly, Recurrent tonsillitis |
OMIM:618935 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Abnormal lymph node morphology, Primary testicular failure, Hypogonadism, Abnormal testis morphol... |
ORPHA:85450 |
Microphthalmia With Limb Anomalies |
|
True anophthalmia, Microphthalmia, Cryptorchidism |
ORPHA:1106 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hypoplasia of the iris, Lymphadenopathy, Splenomegaly |
ORPHA:169090 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Microphthalmia, Tracheal stenosis |
OMIM:302960 |
Microcephaly 30, Primary, Autosomal Recessive |
|
Tracheal stenosis |
OMIM:620183 |
Vacterl/Vater Association |
|
Tracheoesophageal fistula, Tracheal stenosis, Cryptorchidism |
ORPHA:887 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Thyroid hypoplasia, Stillbirth, Adrenal hypoplasia |
OMIM:308050 |
Carney Complex |
|
Precocious puberty, Neoplasm of the pancreas, Follicular thyroid carcinoma, Ovarian serous cystad... |
ORPHA:1359 |
Branchiooculofacial Syndrome |
|
Ectopic thymus tissue, Anophthalmia, Supernumerary nipple, Microphthalmia, Cryptorchidism |
OMIM:113620 |
Pearson Syndrome |
|
Anemia, Abnormality of the liver, Macronodular cirrhosis, Reticulocytosis, Pancytopenia, Hepatic ... |
ORPHA:699 |
Tracheobronchopathia Osteochondroplastica |
|
Tracheal stenosis |
ORPHA:3348 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Splenomegaly, Lymphadenopathy, Type I diabetes mellitus, Bone marrow hypocellularity |
OMIM:301078 |
Carney Triad |
|
Pheochromocytoma, Lymphadenopathy, Mediastinal lymphadenopathy, Paraganglioma, Adrenal overactivi... |
ORPHA:139411 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Optic disc hypoplasia, Tracheal stenosis, Optic nerve hypoplasia |
ORPHA:79345 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Tracheal stenosis, Hepatosplenomegaly |
ORPHA:93352 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Tracheal stenosis, Cryptorchidism |
OMIM:217980 |
Stüve-Wiedemann Syndrome |
|
Hypothyroidism, Ectopic thyroid |
ORPHA:3206 |
Omenn Syndrome |
|
Lymphadenopathy, Hypoplasia of the thymus, Splenomegaly |
OMIM:603554 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Precocious puberty, Tracheal stenosis |
ORPHA:2637 |
Pancreatoblastoma |
|
Abnormal lymph node morphology, Pancreatic calcification |
ORPHA:677 |
Malt Lymphoma |
|
Lymphadenopathy, Abnormality of the thyroid gland, Mediastinal lymphadenopathy |
ORPHA:52417 |
Hydrolethalus Syndrome 1 |
|
Tracheal stenosis, Adrenal gland dysgenesis, Microphthalmia, Accessory spleen, Stillbirth |
OMIM:236680 |
Castleman Disease |
|
Lymphadenopathy, Follicular hyperplasia, Generalized lymphadenopathy, Mediastinal lymphadenopathy |
ORPHA:160 |
Hypomandibular Faciocranial Dysostosis |
|
Tracheal stenosis |
ORPHA:1790 |
Pallister-Hall Syndrome |
|
Precocious puberty, Gonadotropin deficiency, Decreased testicular size, Hypopituitarism, Thyroid ... |
ORPHA:672 |
Lymphatic Filariasis |
|
Vaginal hydrocele, Lymphadenitis, Lymphangiectasis, Hydrocele testis, Lymphadenopathy, Orchitis, ... |
ORPHA:2035 |
Cartilage-Hair Hypoplasia |
|
Aplasia/Hypoplasia affecting the eye, Tracheal stenosis |
ORPHA:175 |
Igg4-Related Submandibular Gland Disease |
|
Sialadenitis, Abnormality of the submandibular glands, Lymphadenopathy, Abnormal salivary gland m... |
ORPHA:449432 |
Fraser Syndrome 3 |
|
Tracheal atresia, Stillbirth |
OMIM:617667 |
Craniofacioskeletal Syndrome |
|
Absent gallbladder, Tracheal stenosis, Cryptorchidism |
OMIM:300712 |
Kikuchi-Fujimoto Disease |
|
Abnormal lymph node morphology, Generalized lymphadenopathy, Lymphadenopathy, Cervical lymphadeno... |
ORPHA:50918 |
Geleophysic Dysplasia 3 |
|
Tracheal stenosis |
OMIM:617809 |
Smith-Lemli-Opitz Syndrome |
|
Aplasia/Hypoplasia affecting the eye, Tracheal stenosis, Cryptorchidism |
ORPHA:818 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Pancreatic adenocarcinoma, Abnormal lymph node morphology, Pituitary corticotropic cell adenoma, ... |
ORPHA:99889 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Tracheal stenosis, Cryptorchidism |
ORPHA:163979 |
Granulomatosis With Polyangiitis |
|
Tracheal stenosis |
OMIM:608710 |
Frontometaphyseal Dysplasia 2 |
|
Delayed puberty, Tracheal stenosis, Cryptorchidism |
OMIM:617137 |
Larsen Syndrome |
|
Tracheal stenosis, Cryptorchidism |
OMIM:150250 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Decreased response to growth hormone stimulation test, Thyroid hypoplasia, Hepatosplenomegaly, Sm... |
OMIM:619503 |
Microphthalmia, Syndromic 1 |
|
Microphthalmia, Anophthalmia, Cryptorchidism |
OMIM:309800 |
Geleophysic Dysplasia 1 |
|
Tracheal stenosis |
OMIM:231050 |
Craniofacial Microsomia |
|
Microphthalmia, Anophthalmia |
OMIM:164210 |
Sarcoidosis |
|
Abnormal lymph node morphology, Hypothyroidism, Diabetes insipidus, Hyperthyroidism, Lymphadenopa... |
ORPHA:797 |