Cephalin Lipidosis |
|
Abnormality of the spleen |
OMIM:212800 |
Asplenia, Isolated Congenital |
|
Asplenia, Thrombocytosis, Howell-Jolly bodies |
OMIM:271400 |
Tuftsin Deficiency |
|
Abnormality of the spleen |
OMIM:191150 |
Laterality Defects, Autosomal Dominant |
|
Asplenia |
OMIM:601086 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Asplenia |
OMIM:618948 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Chronic noninfectious lymphadenopathy, Follicular thyroid carcinoma, Abnormal lymph node morpholo... |
ORPHA:319487 |
Thyroid Dyshormonogenesis 3 |
|
Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter |
OMIM:274700 |
Stormorken-Sjaastad-Langslet Syndrome |
|
Asplenia, Anemia |
ORPHA:3204 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Thyroid Cancer, Nonmedullary, 1 |
|
Papillary thyroid carcinoma, Non-medullary thyroid carcinoma, Goiter |
OMIM:188550 |
Ceroid storage disease |
|
Abnormality of the spleen |
OMIM:214200 |
Thyroid Dyshormonogenesis 2A |
|
Decreased circulating T4 concentration, Hypothyroidism, Thyroid defect in oxidation and organific... |
OMIM:274500 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Papillary thyroid carcinom... |
ORPHA:97290 |
Thyroid Hormone Resistance, Generalized, Autosomal Dominant |
|
Increased circulating free T3, Increased circulating free T4 concentration, Impaired sensitivity ... |
OMIM:188570 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Anophthalmia, Bilateral microphthalmos |
OMIM:611638 |
Thyroid Dyshormonogenesis 5 |
|
Hypothyroidism, Goiter |
OMIM:274900 |
Thyroid Dyshormonogenesis 4 |
|
Hypothyroidism, Goiter |
OMIM:274800 |
Hypoglossia With Situs Inversus |
|
Asplenia, Polysplenia |
OMIM:612776 |
Microphthalmia, Syndromic 12 |
|
Microphthalmia, Cryptorchidism, Anophthalmia, Neonatal death |
OMIM:615524 |
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 |
Anaplastic Thyroid Carcinoma |
|
Laryngotracheal stenosis, Tracheoesophageal fistula, Lymphadenopathy, Anaplastic thyroid carcinom... |
ORPHA:142 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Heme Oxygenase 1 Deficiency |
|
Hemolytic anemia, Hepatomegaly, Asplenia, Cervical lymphadenopathy, Lymphadenopathy, Coombs-posit... |
OMIM:614034 |
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 |
Hypothyroidism, Congenital, Nongoitrous, 1 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Thyroid hypoplasi... |
OMIM:275200 |
Pendred Syndrome |
|
Compensated hypothyroidism, Thyroid carcinoma, Goiter |
OMIM:274600 |
Thyroid Cancer, Nonmedullary, 4 |
|
Goiter, Papillary thyroid carcinoma, Ovarian neoplasm |
OMIM:616534 |
Fetal Iodine Deficiency Disorder |
|
Congenital goiter, Congenital hypothyroidism |
OMIM:228355 |
Thyroid Lymphoma |
|
Hyperthyroidism, Lymphadenopathy, Hypothyroidism, Hashimoto thyroiditis, Goiter |
ORPHA:97285 |
Pendred Syndrome |
|
Hyperparathyroidism, Thyroid carcinoma, Tracheal stenosis, Hypothyroidism, Goiter |
ORPHA:705 |
Bangstad Syndrome |
|
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Abnormally large globe, Goiter |
OMIM:210740 |
Rhabdomyosarcoma, Embryonal, 2 |
|
Ovarian thecoma, Thyroid nodule, Multinodular goiter, Goiter |
OMIM:180295 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
Goiter, Multinodular 2 |
|
Euthyroid multinodular goiter |
OMIM:300273 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Increased circulating free T4 concentration, Diabetes mellitus, Elevated circulating thyroid-stim... |
OMIM:274300 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Absence of lymph node germinal center |
OMIM:235550 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy |
OMIM:616126 |
Squamous Cell Carcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99977 |
Igg4-Related Thyroid Disease |
|
Nodular goiter, Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland... |
ORPHA:64744 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:600776 |
Hereditary Progressive Mucinous Histiocytosis |
|
Lymphadenopathy |
ORPHA:158025 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ... |
OMIM:615415 |
Hypothyroidism, Congenital, Nongoitrous, 5 |
|
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... |
OMIM:225250 |
Stormorken Syndrome |
|
Howell-Jolly bodies, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia |
OMIM:185070 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,... |
OMIM:208540 |
Gracile Bone Dysplasia |
|
Asplenia, Hypoplastic spleen |
OMIM:602361 |
Blepharochalasis And Double Lip |
|
Goiter |
OMIM:109900 |
Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Cryptorchidism, Anophthalmia |
OMIM:164180 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Hyperth... |
OMIM:613239 |
Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Increas... |
OMIM:275000 |
Medullary Thyroid Carcinoma |
|
Primary hyperparathyroidism, Lymphadenopathy, Pheochromocytoma, Elevated circulating calcitonin c... |
ORPHA:1332 |
Familial Thyroid Dyshormonogenesis |
|
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, El... |
ORPHA:95716 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Goiter |
OMIM:600791 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Iron deficiency anemia, Cirrhosis, Exocrine panc... |
OMIM:269200 |
Thyroid Dyshormonogenesis 1 |
|
Hypothyroidism, Goiter |
OMIM:274400 |
Reticuloendotheliosis, X-Linked |
|
Hepatosplenomegaly, Lymphadenopathy |
OMIM:312500 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Reduced circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone con... |
ORPHA:99832 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multinodular goiter |
ORPHA:2091 |
Hypothyroidism, Congenital, Nongoitrous, 9 |
|
Decreased circulating free T4 concentration, Inappropriately normal thyroid-stimulating hormone l... |
OMIM:301035 |
Mantle Cell Lymphoma |
|
Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
Anencephaly 2 |
|
Anophthalmia |
OMIM:619452 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Decreased thyroid-stimulating hormone level, Abnormality of thyroid physiology, Decreased circula... |
ORPHA:95715 |
Retinal Dystrophy With Or Without Extraocular Anomalies |
|
Goiter |
OMIM:617175 |
Heterotaxy, Visceral, 2, Autosomal |
|
Asplenia, Abdominal situs inversus, Polysplenia |
OMIM:605376 |
Matthew-Wood Syndrome |
|
Anophthalmia, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Mic... |
ORPHA:2470 |
Maffucci Syndrome |
|
Neoplasm of the adrenal cortex, Neoplasm of the parathyroid gland, Pituitary adenoma, Ovarian neo... |
ORPHA:163634 |
Hydrolethalus |
|
Microphthalmia, Cryptorchidism, Anophthalmia, Tracheal atresia |
ORPHA:2189 |
Meckel Syndrome, Type 8 |
|
Microphthalmia, Anophthalmia |
OMIM:613885 |
Ascher Syndrome |
|
Hypothyroidism, Goiter |
ORPHA:1253 |
Primary Ciliary Dyskinesia |
|
Asplenia, Polysplenia |
ORPHA:244 |
Immunodeficiency 75 With Lymphoproliferation |
|
Hepatosplenomegaly, Lymphadenopathy, Follicular hyperplasia |
OMIM:619126 |
Kerion Celsi |
|
Lymphadenopathy |
ORPHA:499 |
Right Atrial Isomerism |
|
Asplenia, Abdominal situs ambiguus, Polysplenia |
OMIM:208530 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Anophthalmia |
ORPHA:411986 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Goiter, Elevated circulating thyroid-stimulating hormone concentration, Increased radioactive iod... |
ORPHA:90673 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Microphthalmia, Cryptorchidism, Anophthalmia, Tracheoesophageal fistula |
ORPHA:77298 |
Ciliary Dyskinesia, Primary, 37 |
|
Hypothyroidism, Goiter |
OMIM:617577 |
Glutaric Aciduria Iii |
|
Hyperthyroidism, Goiter |
OMIM:231690 |
Ciliary Dyskinesia, Primary, 1 |
|
Asplenia |
OMIM:244400 |
Thyrocerebroretinal Syndrome |
|
Goiter |
OMIM:274240 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Asplenia, Cholelithiasis, Chronic active hepatitis |
OMIM:240300 |
Hyperthyroidism, Nonautoimmune |
|
Decreased thyroid-stimulating hormone level, Hyperthyroidism, Increased circulating free T3, Thyr... |
OMIM:609152 |
Familial Gestational Hyperthyroidism |
|
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... |
ORPHA:99819 |
Cardiofacioneurodevelopmental Syndrome |
|
Asplenia, Abdominal situs inversus |
OMIM:619123 |
Thyrocerebrorenal Syndrome |
|
Euthyroid goiter |
ORPHA:3327 |
Kimura Disease |
|
Abnormal salivary gland morphology, Lymphadenopathy, Follicular hyperplasia |
ORPHA:482 |
Microphthalmia, Syndromic 5 |
|
Ectopic posterior pituitary, Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Microphthalmia |
OMIM:610125 |
Genetic Transient Congenital Hypothyroidism |
|
Abnormal radioactive iodine uptake test result, Thyroid defect in oxidation and organification of... |
ORPHA:226316 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hyperthyroidism, Goiter |
OMIM:188580 |
Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Anterior hypopituitarism, Anophthalmia, Decreased response to growth hormone stim... |
OMIM:147250 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... |
ORPHA:424 |
Trisomy 13 |
|
Aplasia/Hypoplasia of the iris, Cryptorchidism, Anophthalmia, Microphthalmia |
ORPHA:3378 |
Microphthalmia With Brain And Digit Anomalies |
|
Anophthalmia, Cryptorchidism, Abnormality of the hypothalamus-pituitary axis, Microphthalmia |
ORPHA:139471 |
Sweeney-Cox Syndrome |
|
Asplenia |
OMIM:617746 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Decreased circulating T4 concentration, Elevated circulating thyroid-stimulating hormone concentr... |
ORPHA:226313 |
Congenital Alveolar Capillary Dysplasia |
|
Asplenia, Absent gallbladder, Annular pancreas |
ORPHA:210122 |
Mosaic Trisomy 9 |
|
Asplenia, Abnormal liver lobulation |
ORPHA:99776 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Neonatal death, Tracheal atresia |
OMIM:601612 |
Pediatric-Onset Graves Disease |
|
Puberty and gonadal disorders, Splenomegaly, Thyrotoxicosis with diffuse goiter, Increased circul... |
ORPHA:525731 |
Cowden Syndrome 5 |
|
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypothyroidism, Go... |
OMIM:615108 |
Anophthalmia Plus Syndrome |
|
Anophthalmia |
ORPHA:1104 |
Cowden Syndrome 6 |
|
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypothyroidism, Go... |
OMIM:615109 |
Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... |
OMIM:146510 |
Cerebrooculonasal Syndrome |
|
Anophthalmia |
ORPHA:66625 |
Microphthalmia, Syndromic 9 |
|
Anophthalmia, Cryptorchidism, Bilateral microphthalmos, Multilobulated spleen, Neonatal death, Hy... |
OMIM:601186 |
Cockayne Syndrome Type 2 |
|
Male hypogonadism, Anophthalmia, Cryptorchidism |
ORPHA:90322 |
Brain-Lung-Thyroid Syndrome |
|
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Abnormality of the thyroid gland, E... |
ORPHA:209905 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... |
OMIM:218700 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hypothyroidism, Hashimoto thyroiditis, Goiter |
ORPHA:83601 |
Mccune-Albright Syndrome |
|
Hyperplasia of the Leydig cells, Hyperthyroidism, Macroorchidism, Elevated circulating growth hor... |
ORPHA:562 |
Microphthalmia With Limb Anomalies |
|
Microphthalmia, Anophthalmia, Unilateral cryptorchidism |
OMIM:206920 |
Congenital Respiratory-Biliary Fistula |
|
Tracheal stenosis |
ORPHA:2040 |
Feingold Syndrome 1 |
|
Asplenia, Annular pancreas, Polysplenia, Accessory spleen |
OMIM:164280 |
Cowden Syndrome 1 |
|
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Ovarian carcinoma, Thyroid adenoma,... |
OMIM:158350 |
Laryngotracheoesophageal Cleft Type 4 |
|
Tracheal stenosis, Abnormality of the spleen, Tracheoesophageal fistula |
ORPHA:93941 |
Thymic Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Pituitary null cell adenoma, Pancreatic islet cell adenoma... |
ORPHA:97289 |
Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
Meckel Syndrome |
|
Accessory spleen, Pancreatic fibrosis, Asplenia, Congenital hepatic fibrosis, Pancreatic cysts, C... |
ORPHA:564 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration, Pituitary hy... |
ORPHA:90674 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Asplenia |
OMIM:619657 |
Trisomy 1Q |
|
Cryptorchidism, Anophthalmia |
ORPHA:261344 |
Walker-Warburg Syndrome |
|
Microphthalmia, Cryptorchidism, Anophthalmia |
ORPHA:899 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
Mast Cell Sarcoma |
|
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:66661 |
Meckel Syndrome, Type 1 |
|
Accessory spleen, Malformation of the hepatic ductal plate, Asplenia, Splenomegaly, Bile duct pro... |
OMIM:249000 |
Multiple Endocrine Neoplasia Type 1 |
|
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... |
ORPHA:652 |
Cowden Syndrome 7 |
|
Ductal carcinoma in situ, Papillary thyroid carcinoma, Hashimoto thyroiditis, Goiter |
OMIM:616858 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Splenomegaly, Lymphadenopathy |
ORPHA:444463 |
Multiple Endocrine Neoplasia, Type Iia |
|
Hyperparathyroidism, Thyroid C cell hyperplasia, Increased circulating cortisol level, Pheochromo... |
OMIM:171400 |
Heterotaxy, Visceral, 1, X-Linked |
|
Hepatomegaly, Asplenia, Biliary atresia, Abdominal situs inversus, Polysplenia |
OMIM:306955 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Lymphadenopathy |
OMIM:617772 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... |
OMIM:619313 |
Vacterl With Hydrocephalus |
|
Microphthalmia, Cryptorchidism, Anophthalmia, Tracheoesophageal fistula |
ORPHA:3412 |
Follicular Lymphoma |
|
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:545 |
Tsh-Secreting Pituitary Adenoma |
|
Enlarged pituitary gland, Hyperthyroidism, Hypogonadotropic hypogonadism, Female hypogonadism, El... |
ORPHA:91347 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Splenomegaly, Lymphadenopathy |
ORPHA:86893 |
Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:248450 |
Burkitt Lymphoma |
|
Abnormality of the spleen, Abnormality of the ovary, Abnormal lymph node morphology |
ORPHA:543 |
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis |
|
Tracheal stenosis, Decreased response to growth hormone stimulation test, Congenital hypothyroidism |
OMIM:601427 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Anophthalmia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, ... |
OMIM:206900 |
Jung Syndrome |
|
Tracheal stenosis, Hypothyroidism |
ORPHA:2321 |
Immunodeficiency 32A |
|
Lymphadenitis, Lymphadenopathy |
OMIM:614893 |
Lymphoproliferative Syndrome 3 |
|
Hepatosplenomegaly, Lymphadenopathy |
OMIM:618261 |
Pseudoaminopterin Syndrome |
|
Asplenia |
ORPHA:221120 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Precocious puberty, Microphthalmia, Anophthalmia |
OMIM:615877 |
Holoprosencephaly |
|
Diabetes mellitus, Anophthalmia, Abnormality of the spleen, Cryptorchidism, Panhypopituitarism, M... |
ORPHA:2162 |
14Q22Q23 Microdeletion Syndrome |
|
Optic nerve aplasia, Anophthalmia, Anterior pituitary hypoplasia, Adrenal hypoplasia, Cryptorchid... |
ORPHA:264200 |
Phace Association |
|
Microphthalmia, Optic nerve hypoplasia, Lingual thyroid, Congenital hypothyroidism |
OMIM:606519 |
Cockayne Syndrome Type 1 |
|
Male hypogonadism, Anophthalmia, Cryptorchidism |
ORPHA:90321 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Asplenia, Annular pancreas, Pulmonary lymphangiectasia |
OMIM:265380 |
Mounier-Kühn Syndrome |
|
Tracheal stenosis |
ORPHA:3347 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Lymphadenopathy |
OMIM:615513 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Thyroid dysgenesis, Thyroid agenesis, Cryptorchidism, Ectopic thyroid, Hypothyroidism, Thyroid hy... |
ORPHA:3047 |
Microgastria-Limb Reduction Defect Syndrome |
|
Microphthalmia, Abnormality of the spleen, Anophthalmia, Tracheoesophageal fistula |
ORPHA:2538 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Hypoplastic spleen |
ORPHA:89844 |
Holoprosencephaly 9 |
|
Anophthalmia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasi... |
OMIM:610829 |
Tracheal Agenesis |
|
Tracheal atresia |
ORPHA:3346 |
Carney Complex, Type 1 |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Pheochromocytoma, Thyroid c... |
OMIM:160980 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Lymphadenopathy |
OMIM:608106 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Microphthalmia, Cryptorchidism, Anophthalmia, Hypogonadism |
ORPHA:2250 |
Thyroid Ectopia |
|
Abnormality of the thyroid gland, Hypothyroidism, Ectopic thyroid |
ORPHA:95712 |
Tetraamelia Syndrome 1 |
|
Asplenia |
OMIM:273395 |
Granulomatous Slack Skin |
|
Abnormal lymph node morphology |
ORPHA:33111 |
Immunodeficiency 64 With Lymphoproliferation |
|
Splenomegaly, Mediastinal lymphadenopathy, Cervical lymphadenopathy, Lymphadenopathy, Hepatosplen... |
OMIM:618534 |
Immunodeficiency, Common Variable, 2 |
|
Splenomegaly, Follicular hyperplasia, Lymphadenopathy |
OMIM:240500 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Hepatosplenomegaly, Lymphadenopathy |
OMIM:618982 |
Immunodeficiency 54 |
|
Splenomegaly, Adrenocorticotropic hormone excess, Adrenal insufficiency, Lymphadenopathy |
OMIM:609981 |
Mu-Heavy Chain Disease |
|
Splenomegaly, Lymphadenopathy |
ORPHA:100024 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy |
OMIM:619164 |
Heterotaxy, Visceral, 5, Autosomal |
|
Asplenia, Abdominal situs ambiguus, Abdominal situs inversus |
OMIM:270100 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Splenomegaly, Thyroiditis, Lymphadenopathy |
OMIM:619375 |
Autoimmune Polyendocrinopathy Type 4 |
|
Macrocytic anemia, Autoimmune thrombocytopenia, Hepatitis, Biliary cirrhosis, Thymoma, Leukopenia... |
ORPHA:227990 |
Familial Multinodular Goiter |
|
Hyperthyroidism, Multinodular goiter, Ovarian neoplasm, Thyroid carcinoma, Testicular seminoma, S... |
ORPHA:276399 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... |
ORPHA:226307 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Aniridia, Cryptorchidism, Anophthalmia |
ORPHA:1101 |
Autoimmune Polyendocrinopathy Type 3 |
|
Macrocytic anemia, Autoimmune thrombocytopenia, Hepatitis, Biliary cirrhosis, Thymoma, Leukopenia... |
ORPHA:227982 |
Thyroid Hypoplasia |
|
Hypothyroidism, Thyroid hypoplasia |
ORPHA:95720 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Type I diabetes mellitus, Nodular goiter, Premature thelarche, Polycystic ovaries |
ORPHA:371428 |
Immunodeficiency 27A |
|
Splenomegaly, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosplenomegaly |
OMIM:209950 |
Phace Syndrome |
|
Optic nerve hypoplasia, Lens coloboma, Ectopic thyroid, Microphthalmia, Hypothyroidism |
ORPHA:42775 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Lymphadenopathy, Follicular hyperplasia |
OMIM:619846 |
Alstrom Syndrome |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Diabetes i... |
OMIM:203800 |
Fibular Hemimelia |
|
Anophthalmia |
ORPHA:93323 |
Autosomal Dominant Progressive External Ophthalmoplegia |
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Diabetes mellitus, Hyperthyroidism, Hypothyroidism, Goiter |
ORPHA:254892 |
Familial Adenomatous Polyposis |
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Pancreatic adenocarcinoma, Abnormality of the thyroid gland, Pituitary adenoma, Thyroiditis, Neop... |
ORPHA:733 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
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Buphthalmos, Rieger anomaly, Thyroid hypoplasia, Congenital hypothyroidism |
ORPHA:521445 |
Immunodeficiency 10 |
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Hypoplasia of the iris, Lymphadenopathy |
OMIM:612783 |
Charge Syndrome |
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Anophthalmia, Hypogonadotropic hypogonadism, Cryptorchidism, Tracheoesophageal fistula, Abnormali... |
ORPHA:138 |
Cerebrooculonasal Syndrome |
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Anophthalmia, Optic nerve hypoplasia |
OMIM:605627 |
Multiple Endocrine Neoplasia Type 2 |
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Paraganglioma of head and neck, Thyroid C cell hyperplasia, Cervical lymphadenopathy, Primary hyp... |
ORPHA:653 |
Joubert Syndrome 21 |
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Splenomegaly, Anophthalmia |
OMIM:615636 |
Charge Syndrome |
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Hypoparathyroidism, Anophthalmia, Hypogonadotropic hypogonadism, Decreased response to growth hor... |
OMIM:214800 |
Leukocyte Adhesion Deficiency, Type Iii |
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Splenomegaly, Abnormal lymph node morphology, Hepatosplenomegaly |
OMIM:612840 |
Nephroblastoma |
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Aniridia, Lymphadenopathy |
ORPHA:654 |
Multiple Endocrine Neoplasia, Type Iib |
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Pheochromocytoma, Elevated circulating calcitonin concentration, Parathyroid hyperplasia, Nodular... |
OMIM:162300 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
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Microphthalmia, Thyroid C cell hyperplasia |
OMIM:300952 |
Desmoplastic Small Round Cell Tumor |
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Neoplasm of the pancreas, Testicular neoplasm, Mediastinal lymphadenopathy, Ovarian neoplasm, Lym... |
ORPHA:83469 |
Tetraamelia-Multiple Malformations Syndrome |
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Microphthalmia, Cryptorchidism, Septo-optic dysplasia, Tracheal stenosis |
ORPHA:3301 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
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Microphthalmia, Anophthalmia |
ORPHA:2526 |
Fish-Eye Disease |
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Splenomegaly, Lymphadenopathy |
ORPHA:79292 |
Cowden Syndrome |
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Follicular thyroid carcinoma, Enlarged polycystic ovaries, Abnormality of the thyroid gland, Aden... |
ORPHA:201 |
Branchiootorenal Syndrome 1 |
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Euthyroid goiter |
OMIM:113650 |
Omenn Syndrome |
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Splenomegaly, Hypothyroidism, Thyroiditis, Lymphadenopathy |
ORPHA:39041 |
Fraser Syndrome 1 |
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Anophthalmia, Cryptorchidism, Abnormal thymus morphology, Bilateral microphthalmos |
OMIM:219000 |
Treacher-Collins Syndrome |
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Cryptorchidism, Tracheoesophageal fistula, Abnormality of the adrenal glands, Hypoplasia of the t... |
ORPHA:861 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
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Abnormality of the lymphatic system, Abnormal testis morphology, Abnormal lymph node morphology |
ORPHA:54251 |
Igg4-Related Dacryoadenitis And Sialadenitis |
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Enlarged lacrimal glands, Thyroiditis, Lymphadenopathy, Enlargement of parotid gland, Nodular goi... |
ORPHA:79078 |
Microphthalmia, Syndromic 2 |
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Anophthalmia, Cryptorchidism, Adrenal insufficiency, Microphthalmia, Hypothyroidism |
OMIM:300166 |
Mirage Syndrome |
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Anemia, Leukopenia, Hypoplastic spleen, Lymphopenia, Thrombocytopenia |
OMIM:617053 |
Fraser Syndrome |
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Microphthalmia, Cryptorchidism, Anophthalmia, Tracheal stenosis |
ORPHA:2052 |
Microphthalmia With Linear Skin Defects Syndrome |
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Anophthalmia, Microphthalmia, Abnormal testis morphology |
ORPHA:2556 |
Mycosis Fungoides |
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Lymphadenopathy |
OMIM:254400 |
Hurler-Scheie Syndrome |
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Tracheal stenosis, Splenomegaly |
OMIM:607015 |
Microphthalmia, Syndromic 6 |
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Anophthalmia, Female hypogonadism, Adrenal hypoplasia, Cryptorchidism, Microphthalmia, Anterior h... |
OMIM:607932 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
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Enlarged tonsils, Thyroiditis, Lymphadenopathy, Hepatosplenomegaly, Type I diabetes mellitus, Hyp... |
OMIM:606367 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
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Adrenal hypoplasia, Cryptorchidism, Microphthalmia, Abnormality of the hypothalamus-pituitary axi... |
ORPHA:2166 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
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Multinodular goiter |
OMIM:618373 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Asplenia |
ORPHA:261537 |
Focal Dermal Hypoplasia |
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Anophthalmia, Supernumerary nipple, Cryptorchidism, Hypoplastic nipples, Aniridia, Microphthalmia |
OMIM:305600 |
Combined Immunodeficiency Due To Zap70 Deficiency |
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Lymphadenitis, Abnormal lymph node morphology, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:911 |
Mowat-Wilson Syndrome |
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Asplenia |
ORPHA:2152 |
Cold Agglutinin Disease |
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Splenomegaly, Lymphadenopathy |
ORPHA:56425 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Asplenia |
ORPHA:261552 |
Proboscis Lateralis |
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Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
ORPHA:141099 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
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Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Lymphadenopathy, Hepatosplenomegaly |
OMIM:618935 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
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Absent nipple, Aplasia of the thymus, Congenital hypothyroidism, Hydrocele testis, Hypoplastic ni... |
OMIM:620186 |
Microphthalmia With Limb Anomalies |
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Microphthalmia, Cryptorchidism, True anophthalmia |
ORPHA:1106 |
Hereditary Amyloidosis With Primary Renal Involvement |
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Primary testicular failure, Abnormal lymph node morphology, Lymphadenopathy, Hepatosplenomegaly, ... |
ORPHA:85450 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
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Hypoplasia of the iris, Splenomegaly, Lymphadenopathy |
ORPHA:169090 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
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Stillbirth, Thyroid hypoplasia, Adrenal hypoplasia |
OMIM:308050 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
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Tracheal stenosis, Microphthalmia |
OMIM:302960 |
Microcephaly 30, Primary, Autosomal Recessive |
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Tracheal stenosis |
OMIM:620183 |
Tracheobronchopathia Osteochondroplastica |
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Tracheal stenosis |
ORPHA:3348 |
Pearson Syndrome |
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Hepatomegaly, Reticulocytosis, Pancytopenia, Pancreatic fibrosis, Thrombocytopenia, Splenomegaly,... |
ORPHA:699 |
Branchiooculofacial Syndrome |
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Anophthalmia, Supernumerary nipple, Cryptorchidism, Microphthalmia, Ectopic thymus tissue |
OMIM:113620 |
Vacterl/Vater Association |
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Tracheal stenosis, Cryptorchidism, Tracheoesophageal fistula |
ORPHA:887 |
Carney Complex |
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Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Ovarian serous cystadenoma... |
ORPHA:1359 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
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Type I diabetes mellitus, Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy |
OMIM:301078 |
Brachytelephalangic Chondrodysplasia Punctata |
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Tracheal stenosis, Optic disc hypoplasia, Optic nerve hypoplasia |
ORPHA:79345 |
Carney Triad |
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Mediastinal lymphadenopathy, Lymphadenopathy, Adrenocortical adenoma, Pheochromocytoma, Paragangl... |
ORPHA:139411 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
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Tracheal stenosis, Hepatosplenomegaly |
ORPHA:93352 |
Stüve-Wiedemann Syndrome |
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Hypothyroidism, Ectopic thyroid |
ORPHA:3206 |
Malt Lymphoma |
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Abnormality of the thyroid gland, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:52417 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
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Tracheal stenosis, Cryptorchidism |
OMIM:217980 |
Hydrolethalus Syndrome 1 |
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Accessory spleen, Stillbirth, Adrenal gland dysgenesis, Tracheal stenosis, Microphthalmia |
OMIM:236680 |
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
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Multinodular goiter |
OMIM:620189 |
Omenn Syndrome |
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Splenomegaly, Hypoplasia of the thymus, Lymphadenopathy |
OMIM:603554 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
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Precocious puberty, Tracheal stenosis |
ORPHA:2637 |
Pancreatoblastoma |
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Pancreatic calcification, Abnormal lymph node morphology |
ORPHA:677 |
Hypomandibular Faciocranial Dysostosis |
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Tracheal stenosis |
ORPHA:1790 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
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Splenomegaly, Lymphadenopathy |
OMIM:619183 |
Castleman Disease |
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Mediastinal lymphadenopathy, Follicular hyperplasia, Generalized lymphadenopathy, Lymphadenopathy |
ORPHA:160 |
Pallister-Hall Syndrome |
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Thyroid hypoplasia, Adrenal hypoplasia, Precocious puberty, Cryptorchidism, Adrenocorticotropic h... |
ORPHA:672 |
Cartilage-Hair Hypoplasia |
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Tracheal stenosis, Aplasia/Hypoplasia affecting the eye |
ORPHA:175 |
Lymphatic Filariasis |
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Orchitis, Lymphadenitis, Abnormality of the lymphatic system, Vaginal hydrocele, Lymphadenopathy,... |
ORPHA:2035 |
Fraser Syndrome 3 |
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Stillbirth, Tracheal atresia |
OMIM:617667 |
Igg4-Related Submandibular Gland Disease |
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Abnormality of the thyroid gland, Enlarged lacrimal glands, Abnormal pancreas morphology, Lymphad... |
ORPHA:449432 |
Craniofacioskeletal Syndrome |
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Tracheal stenosis, Absent gallbladder, Cryptorchidism |
OMIM:300712 |
Geleophysic Dysplasia 3 |
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Tracheal stenosis |
OMIM:617809 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Increased urinary cortisol level, Pancreatic adenocarcinoma, Adrenal hyperplasia, Diabetes mellit... |
ORPHA:99889 |
Kikuchi-Fujimoto Disease |
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Generalized lymphadenopathy, Splenomegaly, Cervical lymphadenopathy, Abnormal lymph node morpholo... |
ORPHA:50918 |
Smith-Lemli-Opitz Syndrome |
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Tracheal stenosis, Cryptorchidism, Aplasia/Hypoplasia affecting the eye |
ORPHA:818 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
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Tracheal stenosis, Absent gallbladder, Cryptorchidism |
ORPHA:163979 |
Granulomatosis With Polyangiitis |
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Tracheal stenosis |
OMIM:608710 |
Frontometaphyseal Dysplasia 2 |
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Tracheal stenosis, Cryptorchidism, Delayed puberty |
OMIM:617137 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
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Decreased response to growth hormone stimulation test, Cryptorchidism, Hepatosplenomegaly, Small ... |
OMIM:619503 |
Larsen Syndrome |
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Tracheal stenosis, Cryptorchidism |
OMIM:150250 |
Microphthalmia, Syndromic 1 |
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Microphthalmia, Cryptorchidism, Anophthalmia |
OMIM:309800 |
Craniofacial Microsomia 1 |
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Microphthalmia, Anophthalmia |
OMIM:164210 |
Geleophysic Dysplasia 1 |
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Tracheal stenosis |
OMIM:231050 |
Sarcoidosis |
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Hyperthyroidism, Diabetes insipidus, Enlarged lacrimal glands, Abnormal lymph node morphology, Ly... |
ORPHA:797 |