Thyroid Dyshormonogenesis 3 |
|
Goiter, Thyroid carcinoma, Compensated hypothyroidism, Increased T3/T4 ratio |
OMIM:274700 |
Thyroid Cancer, Nonmedullary, 1 |
|
Goiter, Papillary thyroid carcinoma, Non-medullary thyroid carcinoma |
OMIM:188550 |
Thyroid Dyshormonogenesis 2A |
|
Goiter, Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 concen... |
OMIM:274500 |
Thyroid Dyshormonogenesis 5 |
|
Goiter, Hypothyroidism |
OMIM:274900 |
Thyroid Dyshormonogenesis 4 |
|
Goiter, Hypothyroidism |
OMIM:274800 |
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors |
|
Euthyroid multinodular goiter, Papillary thyroid carcinoma |
OMIM:138800 |
Thyroid Hormone Resistance, Generalized, Autosomal Dominant |
|
Increased circulating free T3, Goiter, Increased circulating free T4 concentration, Impaired sens... |
OMIM:188570 |
Deiodinase, iodothyronine, type I |
|
Goiter, Euthyroid hyperthyroxinemia |
OMIM:147892 |
Thyroid Hormone Plasma Membrane Transport Defect |
|
Goiter, Euthyroid hyperthyroxinemia |
OMIM:188560 |
Immunodeficiency 24 |
|
Decreased proportion of memory B cells, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level... |
OMIM:615897 |
Okt4 Epitope Deficiency |
|
Abnormal T cell morphology |
OMIM:613949 |
Goiter, Multinodular 2 |
|
Euthyroid multinodular goiter |
OMIM:300273 |
Fetal Iodine Deficiency Disorder |
|
Congenital goiter, Congenital hypothyroidism |
OMIM:228355 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD4-positive T cells, Increased ... |
OMIM:212050 |
Thyroid Cancer, Nonmedullary, 4 |
|
Ovarian neoplasm, Goiter, Papillary thyroid carcinoma |
OMIM:616534 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Hepatosplenomegaly, Increased circulating IgE level, Increased circulating IgG level, Increased p... |
OMIM:618982 |
Immunodeficiency, Common Variable, 11 |
|
Increased circulating IgE level, Decreased proportion of class-switched memory B cells, Decreased... |
OMIM:615767 |
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Increased... |
OMIM:618944 |
Hypothyroidism, Congenital, Nongoitrous, 1 |
|
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Thyroid hypoplasia, Hypot... |
OMIM:275200 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Short humerus, Rhizomelia, Failure to thrive, Short femur, Epiphyseal stippling |
OMIM:600121 |
Pendred Syndrome |
|
Goiter, Thyroid carcinoma, Compensated hypothyroidism |
OMIM:274600 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Hypoplasia of the thymus, Small for gestational age, Increased circulating IgE level, Failure to ... |
OMIM:617241 |
Blepharochalasis And Double Lip |
|
Goiter |
OMIM:109900 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating total IgM, Failure to thrive in infancy, Decreased circulating IgG level, B... |
OMIM:618987 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Abnormality of humoral immunity, Increased circulating IgE level, Lymphopenia, Failure to thrive,... |
ORPHA:277 |
Histiocytosis, Familial Lipochrome |
|
Increased circulating antibody level, Histiocytosis |
OMIM:235900 |
Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia |
OMIM:615615 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
Decreased circulating IgG level, B lymphocytopenia, T lymphocytopenia |
OMIM:233650 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Goiter |
OMIM:600791 |
Rhabdomyosarcoma, Embryonal, 2 |
|
Multinodular goiter, Goiter, Thyroid nodule, Ovarian thecoma |
OMIM:180295 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased circulating total IgM, Decreased circulating IgA level, Decreased specific antibody res... |
OMIM:616452 |
Syndactyly Type 4 |
|
Camptodactyly of finger, Hand polydactyly, Short tibia, Toe syndactyly, 1-5 finger syndactyly, Fo... |
ORPHA:93405 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Decreased circulating IgA level, Decreased circulating Ig... |
OMIM:606843 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Hepatosplenomegaly, Increased circulating IgA level, Increased circulating antibody level, Decrea... |
ORPHA:169154 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multinodular goiter |
ORPHA:2091 |
Immunodeficiency 25 |
|
Increased circulating IgA level, Decreased circulating IgG2 level, Increased circulating IgE leve... |
OMIM:610163 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Short humerus, Hip dysplasia, Rhizomelia, Wide distal femoral metaphysis, Short femur, Short femo... |
OMIM:619598 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased circulating total IgM, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, ... |
OMIM:619824 |
Lymphoma, Hodgkin, Classic |
|
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM |
OMIM:236000 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Follicular thyroid carcinoma, Goiter, Papillary thyroid carcinoma, Nodular goiter |
ORPHA:319487 |
Severe Combined Immunodeficiency, X-Linked |
|
Hypoplasia of the thymus, Decreased circulating total IgM, Impaired lymphocyte transformation wit... |
OMIM:300400 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Absent isohemagglutinin level, Abnormal T cell morphology, Failure to thrive, Absent circulating ... |
OMIM:613501 |
Hypoplastic Femurs And Pelvis |
|
Short femur, Hypoplastic pelvis |
OMIM:619545 |
Acromesomelic Dysplasia 2A |
|
Short humerus, Aplasia/Hypoplasia of metatarsal bones, Short tibia, Short digit, Pes valgus, Acro... |
OMIM:200700 |
Retinal Dystrophy With Or Without Extraocular Anomalies |
|
Goiter |
OMIM:617175 |
Diamond-Blackfan Anemia 19 |
|
Steroid-responsive anemia, Erythroid hypoplasia, Anemia |
OMIM:618312 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating total IgM, Decreased circulating IgA level, Transient neutropenia, Absent c... |
OMIM:619707 |
Immunodeficiency 105 |
|
Hepatosplenomegaly, Decreased circulating total IgM, Impaired lymphocyte transformation with phyt... |
OMIM:619924 |
Immunodeficiency 70 |
|
Decreased circulating total IgM, Achalasia, Colitis, Decreased circulating total IgA, Decreased c... |
OMIM:618969 |
Acromesomelic Dysplasia 2C |
|
Distal femoral bowing, Hip dislocation, Short thumb, Hypoplasia of the radius, Short tibia, Abnor... |
OMIM:201250 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Goiter, Diabetes mellitus, Compensated hypothyroidism, Impaired sensitivity to thyroid hormone, E... |
OMIM:274300 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Goiter, Hyperthyroidism, Decreased thyroid-stimulating hormone level, Increased circulating T4 co... |
OMIM:613239 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Goiter, Papillary thyroid carcinoma, Nodular goiter |
ORPHA:97290 |
Thyroid Dyshormonogenesis 1 |
|
Goiter, Hypothyroidism |
OMIM:274400 |
Immunodeficiency 62 |
|
Decreased proportion of memory B cells, Decreased circulating total IgM, Reduced isohemagglutinin... |
OMIM:618459 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Decreased proportion of class-switched memory B cells, Decreased circulating IgG2 level, Decrease... |
OMIM:615513 |
Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating total IgM, Inflammation of the large intestine, Leukocytosis, Colitis, Decr... |
OMIM:619281 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Leukemia, Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM... |
OMIM:153600 |
Bangstad Syndrome |
|
Goiter, Small for gestational age, Primary gonadal insufficiency, Pancytopenia, Insulin-resistant... |
OMIM:210740 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Limb undergrowth, Short tibia, Short 4th metacarpal, Short 3rd metacarpal, Micromelia, Short long... |
OMIM:118651 |
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Osteopathia striata, Abnormal metaphysis morphology, Abnormal diaphysis morphology, Coarse metaph... |
ORPHA:2779 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Plasmacytosis, Autoimmune hemolytic anemia, Lymphopenia, Increased circulating antibody level |
OMIM:247800 |
Kimura Disease |
|
Increased circulating IgE level, Eosinophilia |
ORPHA:482 |
Immunodeficiency 57 With Autoinflammation |
|
Inflammation of the large intestine, Skin rash, Partial absence of specific antibody response to ... |
OMIM:618108 |
Graves Disease, Susceptibility To, 1 |
|
Graves disease, Goiter, Increased circulating free T3, Decreased thyroid-stimulating hormone leve... |
OMIM:275000 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Patellar aplasia, Wide capital femoral epiphyses, High palate, Patellar hypoplasia, Patellar disl... |
OMIM:147891 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
B lymphocytopenia, Agammaglobulinemia |
OMIM:616941 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Decreased circulating IgG level, T lymphocytopenia |
OMIM:242870 |
Histiocytosis, Progressive Mucinous |
|
Mucinous histiocytosis |
OMIM:142630 |
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski |
|
Short finger, Short toe, Abnormal long bone morphology, Abnormal pelvic girdle bone morphology |
OMIM:259270 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Increased circulating IgE level, B lymphocytopenia, T lymphocytopenia |
ORPHA:217390 |
Transient Erythroblastopenia Of Childhood |
|
Anemia, Transient erythroblastopenia |
OMIM:227050 |
Osebold-Remondini Syndrome |
|
Type A brachydactyly, Hypoplasia of the radius, Short tibia, Broad toe, Mesomelia, Broad finger, ... |
OMIM:112910 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Decreased proportion of memory B cells, Complete or near-complete absence of specific antibody re... |
ORPHA:70593 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased proportion of memory B cells, Decreased circulating total IgM, Failure to thrive in inf... |
OMIM:619510 |
Thyrocerebroretinal Syndrome |
|
Goiter |
OMIM:274240 |
Glutaric Aciduria Iii |
|
Goiter, Hyperthyroidism |
OMIM:231690 |
Acromesomelic Dysplasia, Grebe Type |
|
Short tibia, Synostosis of carpal bones, Aplasia/Hypoplasia of the thumb, Micromelia, Aplasia/Hyp... |
ORPHA:2098 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Decreased circulating total IgM, Decreased circulating IgA level, Absent circulating B cells, Aga... |
OMIM:613500 |
Fibular Hemimelia |
|
Oligodactyly, Increased laxity of ankles, Short tibia, Toe syndactyly, Short toe, Fibular aplasia... |
ORPHA:93323 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Increased circulating IgE level, Decreased circulating total IgM, Eosinophilia |
OMIM:617638 |
Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Neutropenia |
OMIM:162700 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Patellar aplasia, Abnormality of fibula morphology, Ectrodactyly, Finger syndactyly, Omphalocele,... |
ORPHA:3329 |
Neutropenia-Monocytopenia-Deafness Syndrome |
|
Abnormality of neutrophils, Abnormal macrophage morphology |
ORPHA:2690 |
Ascher Syndrome |
|
Goiter, Hypothyroidism |
ORPHA:1253 |
Thyroid Lymphoma |
|
Hypothyroidism, Goiter, Hyperthyroidism, Hashimoto thyroiditis |
ORPHA:97285 |
Immunodeficiency 95 |
|
Increased circulating IgG3 level, Lymphopenia, Decreased circulating IgG3 level |
OMIM:619773 |
Léri-Weill Dyschondrosteosis |
|
Abnormality of the humerus, Short tibia, Micromelia, Dorsal subluxation of ulna, Diaphyseal thick... |
ORPHA:240 |
Leri-Weill Dyschondrosteosis |
|
High palate, Abnormality of the humerus, Abnormal metatarsal morphology, Abnormal carpal morpholo... |
OMIM:127300 |
Langer Mesomelic Dysplasia |
|
Radial bowing, Hypoplasia of the radius, Short tibia, Mesomelia, Short femoral neck, Hypoplasia o... |
OMIM:249700 |
Thyrocerebrorenal Syndrome |
|
Euthyroid goiter |
ORPHA:3327 |
Immunodeficiency 50 |
|
Decreased circulating antibody level, Lymphopenia, Neutropenia |
OMIM:300988 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Goiter, Decreased circulating T4 concentration, Decreased thyroid-stimulating hormone level, Abno... |
ORPHA:95715 |
Cernunnos-Xlf Deficiency |
|
Anemia, Lymphopenia, Thrombocytopenia, B lymphocytopenia, Decreased circulating antibody level, T... |
ORPHA:169079 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Decreased circulating total IgM, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Permanent Congenital Hypothyroidism |
|
Goiter, Thyroid dysgenesis, Hypothyroidism |
ORPHA:226292 |
Lethal Faciocardiomelic Dysplasia |
|
Radial club hand, Short thumb, Hypoplasia of the radius, Short tibia, Microretrognathia, Short 5t... |
ORPHA:1972 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Failure to thrive secondary to recurrent infections, Failure to thrive, Panhypogammaglobulinemia,... |
OMIM:601457 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Increased circulating IgE level, Lymphopenia, Aplasia of the thymus, Eosinophilia, Failure to thr... |
OMIM:602450 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Hypoplasia of the radius, Short tibia, Pseudoarthrosis |
OMIM:156230 |
Immunodeficiency 64 With Lymphoproliferation |
|
Hepatosplenomegaly, Increased circulating IgA level, Autoimmune thrombocytopenia, Increased propo... |
OMIM:618534 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Increased circulating antibody level, Anemia, Neutropenia, Eosinophilia... |
OMIM:202700 |
Acrocapitofemoral Dysplasia |
|
Short distal phalanx of finger, Short tibia, Small finger, Micromelia, Flared iliac wing, Radial ... |
OMIM:607778 |
Familial Thyroid Dyshormonogenesis |
|
Goiter, Positive perchlorate discharge test, Decreased circulating T4 concentration, Elevated cir... |
ORPHA:95716 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Goiter, Hyperthyroidism |
OMIM:188580 |
Immunodeficiency 15B |
|
Reduced natural killer cell count, Agammaglobulinemia, Failure to thrive, Decreased lymphocyte pr... |
OMIM:615592 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Goiter, Increased circulating prolactin concentration, Decreased circulating T4 concentration, El... |
ORPHA:99832 |
Pendred Syndrome |
|
Hyperparathyroidism, Goiter, Thyroid carcinoma, Hypothyroidism |
ORPHA:705 |
Hypothyroidism, Congenital, Nongoitrous, 9 |
|
Inappropriately normal thyroid-stimulating hormone level, Decreased circulating free T4 concentra... |
OMIM:301035 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hepatosplenomegaly, Decreased CD4:CD8 ratio, Hemolytic anemia, Decreased specific anti-polysaccha... |
OMIM:606367 |
Immunodeficiency 60 And Autoimmunity |
|
Decreased proportion of memory B cells, Decreased circulating total IgM, Colitis, Ulcerative coli... |
OMIM:618394 |
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
Decreased circulating total IgM, Increased circulating IgE level, Decreased circulating IgA level... |
OMIM:619752 |
Ciliary Dyskinesia, Primary, 37 |
|
Goiter, Hypothyroidism |
OMIM:617577 |
Immunodeficiency 15A |
|
Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... |
OMIM:618204 |
Epiphyseal Dysplasia, Multiple, 5 |
|
Epiphyseal dysplasia, Delayed ossification of carpal bones, Short metacarpal, Broad femoral neck,... |
OMIM:607078 |
Immunodeficiency 11 |
|
Reduced antigen-specific T cell proliferation, Monocytopenia, Agammaglobulinemia, Decreased circu... |
OMIM:615206 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Foot oligodactyly, Short tibia, Syndactyly, Fibular aplasia, Hand oligodactyly, Tibial bowing |
OMIM:246570 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Extramedullary hematopoiesis, Anemia, Increased circulating antibody level, Failure t... |
OMIM:615285 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level... |
OMIM:612692 |
Hyperthyroidism, Nonautoimmune |
|
Goiter, Thyroid hyperplasia, Hyperthyroidism, Increased circulating free T3, Increased circulatin... |
OMIM:609152 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Decreased lymphocyte apoptosis, Hemolytic anemia, Increased circulating antibody level, Leukemia,... |
OMIM:614470 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Lymphopenia, Agammaglobulinemia |
OMIM:200900 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Colitis, Min... |
OMIM:617006 |
Beukes Hip Dysplasia |
|
Hip dysplasia, Avascular necrosis of the capital femoral epiphysis, Irregular capital femoral epi... |
OMIM:142669 |
Mesomelic Dysplasia, Savarirayan Type |
|
Hip dislocation, Short tibia, Dislocated radial head, Mesomelia, Abnormal foot morphology, Fibula... |
OMIM:605274 |
Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, B lymphocytopenia, Pancytopenia, Decreased circulating antibody level |
OMIM:616873 |
Mu-Heavy Chain Disease |
|
Abnormal B cell count, Increased circulating antibody level, Anemia, Splenomegaly, Weight loss |
ORPHA:100024 |
Caspase 8 Deficiency |
|
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... |
OMIM:607271 |
Immunodeficiency 86 |
|
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level |
OMIM:619549 |
Immunodeficiency 89 And Autoimmunity |
|
Increased circulating IgA level, Increased circulating IgE level, Reduced circulating interleukin... |
OMIM:619632 |
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia |
|
Flared femoral metaphysis, Flat distal femoral epiphysis, Broad femoral neck, Short femoral neck,... |
OMIM:609324 |
Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:312863 |
Acheiropody |
|
Aplasia of the ulna, Short humerus, Absent hand, Carpal bone aplasia, Absent radius, Aplasia of m... |
OMIM:200500 |
Immunodeficiency 84 |
|
Perianal abscess, B lymphocytopenia, Splenomegaly |
OMIM:619437 |
Maffucci Syndrome |
|
Goiter, Neoplasm of the parathyroid gland, Neoplasm of the adrenal cortex, Parathyroid adenoma, O... |
ORPHA:163634 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Absent tibia, Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication |
OMIM:188740 |
Immunodeficiency 48 |
|
Panhypogammaglobulinemia, Absence of CD8-positive T cells, Failure to thrive, Splenomegaly |
OMIM:269840 |
Benign Cephalic Histiocytosis |
|
Histiocytosis |
ORPHA:157997 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Decreased circulating total IgM, Increased circulating IgE level, Reduced natural killer cell cou... |
OMIM:243700 |
Ghosal Hematodiaphyseal Dysplasia |
|
Abnormal metaphysis morphology, Anemia, Abnormal pelvic girdle bone morphology, Diaphyseal thicke... |
ORPHA:1802 |
Masp2 Deficiency |
|
Recurrent pneumonia, Ulcerative colitis, Complement deficiency |
OMIM:613791 |
Immunodeficiency 102 |
|
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of naive CD8 T cells, ... |
OMIM:301082 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Leukocytosis, Bloody diarrhea, Ulcerative colitis, Anemia |
OMIM:619398 |
Familial Gestational Hyperthyroidism |
|
Goiter, Thyroid hyperplasia, Hyperthyroidism, Activating thyroid-stimulating hormone receptor def... |
ORPHA:99819 |
Immunodeficiency 67 |
|
Increased circulating IgE level, Transient neutropenia, Liver abscess |
OMIM:607676 |
Immunodeficiency 61 |
|
Decreased circulating total IgM, Frequent Giardia lamblia infestation, Colon cancer, Decreased ci... |
OMIM:300310 |
Hemoglobin D Disease |
|
Abnormal hemoglobin, Anemia, Decreased mean corpuscular volume, HbS hemoglobin, Decreased mean co... |
ORPHA:90039 |
Wiskott-Aldrich Syndrome 2 |
|
Defective T cell proliferation, Decreased proportion of CD8-positive T cells, Thrombocytopenia, R... |
OMIM:614493 |
Medullary Thyroid Carcinoma |
|
Elevated calcitonin, Nodular goiter, Pheochromocytoma, Medullary thyroid carcinoma, Primary hyper... |
ORPHA:1332 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Decreased specific antibody response to vaccination, Colitis, B lymphocytopenia, Chronic diarrhea... |
OMIM:614700 |
Orofaciodigital Syndrome Viii |
|
High palate, Polydactyly, Short tibia, Syndactyly, Cleft palate, Recurrent aspiration pneumonia |
OMIM:300484 |
Hypothyroidism, Congenital, Nongoitrous, 5 |
|
Thyroid agenesis, Decreased circulating free T4 concentration, Ectopic thyroid, Elevated circulat... |
OMIM:225250 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of class-switched memory B cells, Autoimmune thrombocytopenia, Lymphopenia, ... |
OMIM:619846 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Short tibia, Short femur, Hypoplasia of the ulna, Fibular hypoplasia, Absent thumb, Aplasia/Hypop... |
OMIM:612447 |
Igg4-Related Thyroid Disease |
|
Graves disease, Goiter, Abnormality of the pituitary gland, Nodular goiter, Hashimoto thyroiditis... |
ORPHA:64744 |
Immunodeficiency 19 |
|
Abnormal B cell morphology, Abnormal natural killer cell morphology, Failure to thrive, T lymphoc... |
OMIM:615617 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Inflammation of the large intestine, Recurrent aphthous stomatitis, Intestinal obstruction, Ulcer... |
OMIM:266600 |
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive |
|
Increased circulating IgE level, Eosinophilia |
OMIM:618523 |
Metaphyseal Dysplasia Without Hypotrichosis |
|
Genu varum, Metaphyseal striations, Short metacarpal, Abnormal pelvic girdle bone morphology, Sho... |
OMIM:250460 |
Femoral-Facial Syndrome |
|
Inguinal hernia, Abnormality of fibula morphology, Hip dysplasia, Micrognathia, Preaxial foot pol... |
ORPHA:1988 |
Genetic Transient Congenital Hypothyroidism |
|
Goiter, Abnormal radioactive iodine uptake test result, Decreased circulating T4 concentration, E... |
ORPHA:226316 |
Endove Syndrome, Limb-Only Type |
|
3-4 finger syndactyly, Triangular tibia, Umbilical hernia, Disproportionate shortening of the tib... |
OMIM:619217 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Inflammation of the large intestine, Hemophagocytosis, Aplastic anemia, Colitis, Splenomegaly, Ac... |
OMIM:300635 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Goiter, Thyroid hyperplasia, Hyperthyroidism, Activating thyroid-stimulating hormone receptor def... |
ORPHA:424 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Decreased circulating total IgM, Decreased circulating IgG2 level, Reduced red cell adenosine dea... |
OMIM:102700 |
Immunodeficiency 76 |
|
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Splenomegaly |
OMIM:619164 |
Igg4-Related Aortitis |
|
Hypereosinophilia, Increased circulating IgG4 level, Increased circulating antibody level, Increa... |
ORPHA:449400 |
Gollop-Wolfgang Complex |
|
Aplasia/Hypoplasia of the tibia, Ectrodactyly, Bifid femur, Hand monodactyly, Aplasia/Hypoplasia ... |
ORPHA:1986 |
Immunodeficiency 97 With Autoinflammation |
|
Hemophagocytosis, Granuloma, Colitis, Abdominal pain, Hepatosplenomegaly, Lymphopenia, Thrombocyt... |
OMIM:619802 |
Coxopodopatellar Syndrome |
|
Hip dysplasia, Abnormality of the knee, Abnormal epiphysis morphology, Aplasia/Hypoplasia of the ... |
ORPHA:1509 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Anemia, Autoimmune thrombocytopenia, Increased circulating IgE level, Neutropenia, Eosinophilia, ... |
OMIM:304790 |
Anaplastic Thyroid Carcinoma |
|
Anaplastic thyroid carcinoma, Goiter, Nodular goiter |
ORPHA:142 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Impaired sensitivity to thyroid stimulating hormone, Goiter, Compensated hypothyroidism, Decrease... |
ORPHA:90673 |
Immunodeficiency 37 |
|
Infectious encephalitis, Decreased circulating antibody level, Colitis, Decreased proportion of c... |
OMIM:616098 |
Erythrocytosis, Familial, 5 |
|
Elevated circulating erythropoietin concentration, Increased hematocrit, Polycythemia, Increased ... |
OMIM:617907 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Hepatosplenomegaly, Cystic acne, Knee flexion contracture, Sterile arthritis, Colitis, Arthritis,... |
OMIM:604416 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Increased circulating IgE level, Cutaneous abscess, Eosinophilia |
OMIM:147060 |
Immunodeficiency 52 |
|
Autoimmune thrombocytopenia, Increased proportion of gamma-delta T cells, Lymphopenia, Failure to... |
OMIM:617514 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Metaphyseal widening, Rhizomelia, Dumbbell-shaped long bone, Hypoplastic scapulae, Cleft palate, ... |
ORPHA:440354 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:609129 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Decreased circulating total IgM, Chronic sinusitis, Neutropenia, Protein-losing enteropathy, Decr... |
OMIM:613502 |
Spermatogenic Failure 72 |
|
Reduced progressive sperm motility, Absent sperm axoneme central pair complex, Short sperm flagel... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... |
OMIM:618153 |
Immunodeficiency, Common Variable, 3 |
|
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i... |
OMIM:613493 |
Spermatogenic Failure 35 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... |
OMIM:618341 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Short humerus, Decreased circulating total IgM, Small for gestational age, Feeding difficulties, ... |
OMIM:607143 |
Peeling Skin Syndrome 1 |
|
Increased circulating IgE level, Eosinophilia |
OMIM:270300 |
Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses |
OMIM:601071 |
Congenital Atransferrinemia |
|
Anemia, Hypothyroidism |
ORPHA:1195 |
Erythrocytosis, Familial, 4 |
|
Elevated circulating erythropoietin concentration, Increased hematocrit, Polycythemia, Increased ... |
OMIM:611783 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Congenital hypothyroidism... |
ORPHA:226313 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Increased circulating IgE level, Hypereosinophilia, Leukocytosis, Weight loss |
ORPHA:2902 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Ulcerativ... |
OMIM:614878 |
Spermatogenic Failure 65 |
|
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... |
OMIM:619712 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Short distal phalanx of finger, Hip dysplasia, Increased circulating IgE level, Hypoplastic iliac... |
ORPHA:1858 |
Spermatogenic Failure 33 |
|
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... |
OMIM:618152 |
Spermatogenic Failure 37 |
|
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... |
OMIM:617576 |
Spermatogenic Failure 46 |
|
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... |
OMIM:619095 |
Spermatogenic Failure 27 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... |
OMIM:617965 |
Tibial Hemimelia |
|
Oligodactyly, Hip dislocation, Hip dysplasia, Polydactyly, Short tibia, Increased laxity of ankle... |
ORPHA:93322 |
Spermatogenic Failure 20 |
|
Coiled sperm flagella, Absent sperm flagella, Male infertility, Short sperm flagella |
OMIM:617593 |
Insulin Autoimmune Syndrome |
|
Fasting hypoglycemia, Increased circulating antibody level, Nonketotic hypoglycemia, Reactive hyp... |
ORPHA:411593 |
Transcobalamin Deficiency |
|
Decreased circulating total IgM, Decreased circulating IgA level, Lymphopenia, Thrombocytopenia, ... |
ORPHA:859 |
Pgm3-Cdg |
|
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Leukopenia... |
ORPHA:443811 |
Spermatogenic Failure 56 |
|
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... |
OMIM:619515 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Absent ci... |
OMIM:619705 |
Ivic Syndrome |
|
Short 1st metacarpal, Anal atresia, Intestinal malrotation, Absent thumb, Short thumb, Preaxial p... |
OMIM:147750 |
Deafness, Autosomal Recessive 104 |
|
Prelingual sensorineural hearing impairment, Absent brainstem auditory responses |
OMIM:616515 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
High palate, Inguinal hernia, Feeding difficulties, Hip dysplasia, Limb undergrowth, Knee flexion... |
OMIM:616809 |
Papular Xanthoma |
|
Histiocytosis |
ORPHA:158008 |
Immunodeficiency, Common Variable, 1 |
|
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of class-switched memo... |
OMIM:607594 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Panhypogammaglobulinemia, Reduced natural killer cell count, Agammaglobulinemia, Neutropenia |
OMIM:615214 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hepatosplenomegaly, Hemophagocytosis, Anemia, Reduced natural killer cell activity, Granulocytopenia |
OMIM:608898 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased circulating IgA level, Decreased proportion of memory B cells, Lipodystrophy, Skin rash... |
OMIM:618048 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Absent circulating B cells, Thrombocytopenia, Failure to thrive, Agammaglobulinemia |
OMIM:619693 |
Distal Arthrogryposis Type 1 |
|
Camptodactyly of finger, Ulnar deviation of finger, Abnormal hip bone morphology, Rocker bottom f... |
ORPHA:1146 |
Immunodeficiency 44 |
|
Decreased circulating total IgM, Decreased circulating IgA level, Lymphopenia, Abnormal circulati... |
OMIM:616636 |
Immunodeficiency 13 |
|
Decreased CD4:CD8 ratio, Lymphopenia, B lymphocytopenia, Decreased proportion of CD4-positive hel... |
OMIM:615518 |
Inflammatory Bowel Disease 29 |
|
Ulcerative colitis, Crohn's disease |
OMIM:618077 |
Autoinflammation With Infantile Enterocolitis |
|
Skin rash, Anemia, Villous atrophy, Reduced natural killer cell activity, Reduced natural killer ... |
OMIM:616050 |
Orofaciodigital Syndrome Type 10 |
|
Oligodactyly, Preaxial polydactyly, Metatarsal synostosis, Polysyndactyly of hallux, Hypoplasia o... |
ORPHA:2756 |
Immunodeficiency 36 With Lymphoproliferation |
|
Decreased proportion of naive CD8 T cells, Chronic lymphatic leukemia, Decreased circulating IgA ... |
OMIM:616005 |
Epiphyseal Dysplasia, Multiple, 7 |
|
Genu varum, Flat acetabular roof, Advanced ossification of carpal bones, Monkey wrench femoral ne... |
OMIM:617719 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Hip dysplasia, Radial metaphyseal irregularity, Metaphyseal cupping, Metaphyseal irregularity, Pr... |
ORPHA:174 |
Spermatogenic Failure 43 |
|
Absent sperm axoneme central pair complex, Coiled sperm flagella, Absent sperm flagella, Male inf... |
OMIM:618751 |
Spermatogenic Failure 19 |
|
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... |
OMIM:617592 |
Spermatogenic Failure 49 |
|
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... |
OMIM:619094 |
Cowden Syndrome 7 |
|
Goiter, Papillary thyroid carcinoma, Ductal carcinoma in situ, Hashimoto thyroiditis |
OMIM:616858 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of metatarsal bones, Aplasia/Hypoplasia of fingers, Aplasia/Hypoplasia of the ... |
OMIM:228930 |
Autoimmune Lymphoproliferative Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Increased ... |
OMIM:601859 |
Spermatogenic Failure, X-Linked, 3 |
|
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Irregularly... |
OMIM:301059 |
Bare Lymphocyte Syndrome, Type Ii |
|
Cholangitis, Malabsorption, Cutaneous anergy, Villous atrophy, Colitis, Neutropenia, Protracted d... |
OMIM:209920 |
Immunodeficiency 22 |
|
Decreased circulating total IgM, Anemia, Abscess, Decreased circulating IgA level, Decreased circ... |
OMIM:615758 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Immotile sperm, Sensorineural hearing impairment, Male infertility |
OMIM:608653 |
Epiphyseal Dysplasia, Multiple, 4 |
|
Hip dysplasia, Short metacarpal, Double-layered patella, Hypoplasia of the femoral head, Talipes ... |
OMIM:226900 |
Immunodeficiency 81 |
|
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs... |
OMIM:619374 |
Atelosteogenesis Type Ii |
|
Increased femoral anteversion, Rhizomelia, Cleft palate, Micromelia, Hypoplastic cervical vertebr... |
ORPHA:56304 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Hepatosplenomegaly, Abnormal B cell count, Decreased circulating total IgM, Decreased proportion ... |
ORPHA:331206 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials, Ataxia |
ORPHA:99852 |
Pediatric-Onset Graves Disease |
|
Graves disease, Goiter, Neutropenia in presence of anti-neutropil antibodies, Puberty and gonadal... |
ORPHA:525731 |
Pelviscapular Dysplasia |
|
Hypoplastic ilia, Congenital hip dislocation, Hypoplastic scapulae, Short femur, Mesomelic leg sh... |
ORPHA:93333 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hepatosplenomegaly, Hemophagocytosis, Anemia, Colitis, Abnormal natural killer cell physiology, T... |
OMIM:613101 |
Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Hip dysplasia, Abnormality of the knee, Dysplasia of the femoral head, Wide distal femoral metaph... |
ORPHA:99642 |
Immunodeficiency, Common Variable, 14 |
|
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased... |
OMIM:617765 |
Spermatogenic Failure 54 |
|
Cryptozoospermia, Oligospermia, Short sperm flagella, Coiled sperm flagella, Abnormal sperm axone... |
OMIM:619379 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Autoimmune hem... |
OMIM:619220 |
Metaphyseal Anadysplasia 2 |
|
Genu varum, Metaphyseal widening, Micromelia, Short femoral neck, Metaphyseal irregularity, Bowin... |
OMIM:613073 |
Immunodeficiency 23 |
|
Hemolytic anemia, Abscess, Increased circulating IgE level, Lymphopenia, Eosinophilia, Increased ... |
OMIM:615816 |
Immunodeficiency 21 |
|
Myeloid leukemia, Aplastic anemia, Anemia, Reduced natural killer cell count, Lymphopenia, B lymp... |
OMIM:614172 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia, Anxiety, Optic disc pallor, Ataxia |
OMIM:618970 |
Immunodeficiency 43 |
|
Lung abscess, Reduced natural killer cell count, Decreased circulating IgG level, B lymphocytopen... |
OMIM:241600 |
Deafness-Infertility Syndrome |
|
Abnormal sperm head morphology, Abnormal sperm tail morphology, Bilateral sensorineural hearing i... |
OMIM:611102 |
Laurin-Sandrow Syndrome |
|
Patellar aplasia, Hand polydactyly, Absent radius, Absent tibia, Syndactyly, Broad foot, Triphala... |
OMIM:135750 |
Spermatogenic Failure 58 |
|
Reduced progressive sperm motility, Immotile sperm, Short sperm flagella, Irregularly shaped sper... |
OMIM:619585 |
Spermatogenic Failure 80 |
|
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... |
OMIM:620222 |
Spermatogenic Failure 40 |
|
Immotile sperm, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertil... |
OMIM:618664 |
Spermatogenic Failure 76 |
|
Short sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Male infertility, Oli... |
OMIM:620084 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Hematochezia, Colitis, Perianal abscess, Enterocolitis, Pyoderma, Crohn's disease, Folliculitis |
OMIM:613148 |
Immunodeficiency 92 |
|
Decreased proportion of class-switched memory B cells, Leukocytosis, Partial absence of specific ... |
OMIM:619652 |
Orofaciodigital Syndrome Iv |
|
Short finger, Lobulated tongue, High palate, Hand polydactyly, Postaxial polydactyly, Short tibia... |
OMIM:258860 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young |
OMIM:613370 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Knee osteoarthritis, Short lower limbs, Genu varum, Flattened epiphysis, Metaphyseal irregularity... |
ORPHA:93356 |
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Neoplasm of the thyroid gland, Goiter, Polycystic ovaries, Abnormal calcium-phosphate regulating ... |
ORPHA:457059 |
Multiple Endocrine Neoplasia, Type Iia |
|
Thyroid C cell hyperplasia, Elevated calcitonin, Hyperparathyroidism, Increased circulating corti... |
OMIM:171400 |
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
|
Increased circulating IgE level, Decreased circulating IgA level, Eosinophilia, Cutaneous abscess... |
OMIM:618282 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Hepatosplenomegaly, Increased circulating antibody level, Decreased proportion of CD3-positive T ... |
ORPHA:169160 |
Multicentric Reticulohistiocytosis |
|
Cachexia, Histiocytosis |
ORPHA:139436 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Oligodactyly, High palate, Overlapping toe, Short tibia, Micrognathia, 11 pairs of ribs, Clinodac... |
OMIM:201170 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Impaired Ig class switch recombination, Increased circulating IgA level, Hemolytic anemia, Decrea... |
OMIM:308230 |
Spermatogenic Failure 42 |
|
Microcephalic sperm head, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Mal... |
OMIM:618745 |
Cowden Syndrome 5 |
|
Goiter, Hyperthyroidism, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypothyroidism, Thyroid... |
OMIM:615108 |
Inflammatory Bowel Disease 11 |
|
Hematochezia, Inflammation of the large intestine, Abdominal pain, Diarrhea, Weight loss |
OMIM:191390 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Aplastic anemia, Hemophagocytosis, Reduced natural killer cell activity, Increased circulating Ig... |
OMIM:308240 |
Mesomelic Dysplasia, Savarirayan Type |
|
Hip dislocation, Hypoplasia of proximal radius, Mesomelia, Fibular aplasia, Glenoid fossa hypopla... |
ORPHA:85170 |
Spermatogenic Failure 39 |
|
Oligospermia, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertilit... |
OMIM:618643 |
Lymphoproliferative Syndrome 3 |
|
Hepatosplenomegaly, Partial absence of specific antibody response to tetanus vaccine, Decreased c... |
OMIM:618261 |
Netherton Syndrome |
|
Increased circulating IgE level, Hypereosinophilia, Decreased circulating IgG level, Failure to t... |
OMIM:256500 |
Immunodeficiency 27A |
|
Hepatosplenomegaly, Leukocytosis, Anemia, Histiocytosis, Increased circulating IgM level, Increas... |
OMIM:209950 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Leukocytosis, Bloody diarrhea, Intest... |
OMIM:243150 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Autoimmune hemolytic anemia, B lymphocytope... |
ORPHA:231154 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Decreased proportion o... |
OMIM:615559 |
Wolfram-Like Syndrome |
|
Progressive cerebellar ataxia, Abnormal pinna morphology, Diabetes mellitus, Anxiety, Dementia, G... |
ORPHA:411590 |
Weismann-Netter Syndrome |
|
Abnormality of femur morphology, Abnormality of the humerus, Abnormality of fibula morphology, An... |
ORPHA:3344 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Eiken Syndrome |
|
Epiphyseal dysplasia, Abnormal fingertip morphology, Delayed epiphyseal ossification, Short toe, ... |
ORPHA:79106 |
Autoimmune Lymphoproliferative Syndrome |
|
Decreased specific anti-polysaccharide antibody level, Decreased proportion of CD4-positive helpe... |
ORPHA:3261 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Decreased mean corpuscular volume, Hypochromia, Anemia |
OMIM:205950 |
Pseudoachondroplasia |
|
Wind-swept deformity of the knees, Increased laxity of ankles, Osteoarthritis, Irregular epiphyse... |
ORPHA:750 |
Ankylosing Vertebral Hyperostosis With Tylosis |
|
Palmoplantar keratoderma, Abnormal pelvis bone morphology, Osteoarthritis, Obesity |
ORPHA:2206 |
Short Rib-Polydactyly Syndrome |
|
Abnormal long bone morphology, Polydactyly, Short tibia, Cleft palate, Micromelia, Cone-shaped ep... |
ORPHA:1505 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Foot oligodactyly, Omphalocele, Short femur, Bilateral cleft palate, Amelia |
OMIM:601357 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Difficulty walking, Ataxia, Abnormal motor evoked potentials, Abnormal auditory evoked potentials... |
ORPHA:320401 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Failure to thrive, Increased circulating Ig... |
OMIM:618495 |
Spermatogenic Failure 47 |
|
Immotile sperm, Short sperm flagella, Absent sperm flagella, Male infertility, Oligospermia |
OMIM:619102 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Hepatosplenomegaly, Leukopenia, Partial absence of specific antibody response to Haemophilus infl... |
OMIM:618986 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Facial palsy, Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity |
OMIM:601382 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Leukocytosis, Hypochromic anemia, Increased circulating IgE level, Failure to thrive, Increased c... |
OMIM:618213 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Oligodactyly, Camptodactyly, 3-4 finger syndactyly, Absent tibia, Absent toe, Short tibia, Short ... |
OMIM:612576 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Goiter, Hashimoto thyroiditis, Hypothyroidism |
ORPHA:83601 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Hepatosplenomegaly, Stomatitis, Skin rash, Recurrent bacterial skin infections, Autoimmune thromb... |
ORPHA:911 |
Adult Idiopathic Neutropenia |
|
Lymphopenia, Increased circulating IgM level, Monocytopenia, Abnormal neutrophil count, Monocytos... |
ORPHA:2688 |
Cowden Syndrome 6 |
|
Goiter, Hyperthyroidism, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypothyroidism, Thyroid... |
OMIM:615109 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Decreased proportion of memory B cells, Inflammation of the large intestine, Chronic constipation... |
OMIM:301074 |
Pseudomyxoma Peritonei |
|
Inflammation of the large intestine, Intestinal obstruction, Abdominal pain, Constipation, Hernia... |
ORPHA:26790 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level... |
OMIM:611926 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Colitis, Obesity |
ORPHA:88643 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hyperglycemia, Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism |
OMIM:307500 |
Urban-Rogers-Meyer Syndrome |
|
Camptodactyly of finger, Abnormal diaphysis morphology, Flexion contracture of toe, Increased cir... |
ORPHA:3409 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Increased ... |
OMIM:603909 |
Slc35A2-Cdg |
|
Camptodactyly of finger, Gastroesophageal reflux, Abnormal long bone morphology, Feeding difficul... |
ORPHA:356961 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Goiter, Thyroid agenesis, Ectopic thyroid, Decreased circulating T4 concentration, Elevated circu... |
OMIM:218700 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Elevated fecal sodium, Abdominal distention, Inflammation of the large intestine, Secretory diarrhea |
OMIM:616868 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Impaired Ig class switch recombination, Recurrent infection of the gastrointestinal tract, Decrea... |
OMIM:605258 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Intermittent thrombocytopenia, Abscess, Neutropenia, B lymphocytopenia, Splenomegaly, Abnormal CD... |
OMIM:150550 |
Faciocardiomelic Dysplasia, Lethal |
|
Small for gestational age, Short thumb, Hypoplasia of the radius, Talipes, Short 5th finger, Micr... |
OMIM:227270 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Metaphyseal chondrodysplasia, Short distal phalanx of finger, Metaphyseal sclerosis, Genu varum, ... |
OMIM:156500 |
Immunodeficiency, Common Variable, 7 |
|
Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic partially decreas... |
OMIM:614699 |
Male Infertility Due To Acephalic Spermatozoa |
|
Acephalic spermatozoa, Reduced sperm motility, Male infertility, Oligospermia, Abnormal sperm mid... |
ORPHA:529970 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hemophagocytosis, Bone marrow hypocellularity, Autoimmune hemolytic anemia, Thrombocytopenia, B l... |
OMIM:301078 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Hepatosplenomegaly, Acute otitis media, Decreased circulating total IgM, Impaired lymphocyte tran... |
ORPHA:35078 |
Deafness, Neural, With Atypical Atopic Dermatitis |
|
Increased circulating IgE level |
OMIM:221700 |
Atelosteogenesis, Type I |
|
Clubbing, Rhizomelia, Short metatarsal, Cleft palate, Knee dislocation, Fibular aplasia, Multinuc... |
OMIM:108720 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level... |
OMIM:614069 |
Spermatogenic Failure 7 |
|
Immotile sperm, Reduced sperm motility, Male infertility, Oligospermia |
OMIM:612997 |
Spermatogenic Failure 79 |
|
Coiled sperm flagella, Reduced sperm motility, Male infertility, Oligospermia |
OMIM:620196 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Inflammation of the large intestine, Abnormal metaphysis morphology, Poor appetite, Skin rash, An... |
ORPHA:324964 |
Palmoplantar Keratoderma, Epidermolytic, 1 |
|
Increased circulating IgE level |
OMIM:144200 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Abnormal intestine morphology, Protein-losing enteropathy, Duodenitis, Abdominal pain, Gastritis,... |
OMIM:619079 |
Spermatogenic Failure 11 |
|
Abnormal sperm morphology, Oligospermia, Reduced sperm motility, Male infertility |
OMIM:615081 |
Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Oligospermia, Reduced sperm motility, Male infertility |
OMIM:614822 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Secretory diarrhea, Increased circulating IgE level, Failure to thrive, Recurrent pneumonia, Pust... |
OMIM:616069 |
Spermatogenic Failure 41 |
|
Immotile sperm, Short sperm flagella, Male infertility, Tapered sperm head, Oligospermia |
OMIM:618670 |
Kyphomelic Dysplasia |
|
Short humerus, Dumbbell-shaped humerus, Flat acetabular roof, Short metacarpal, Micrognathia, Uln... |
OMIM:211350 |
Immunodeficiency 35 |
|
Increased circulating IgE level |
OMIM:611521 |
Ige Responsiveness, Atopic |
|
Increased circulating IgE level |
OMIM:147050 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Small for gestational age, Fractured radius, Decreased fibular diameter, Limb undergrowth, Short ... |
OMIM:616897 |
Inflammatory Bowel Disease 3 |
|
Ulcerative colitis |
OMIM:604519 |
Inflammatory Bowel Disease 21 |
|
Ulcerative colitis |
OMIM:612354 |
Thanatophoric Dysplasia Type 1 |
|
Hypoplastic ilia, Abnormal metaphysis morphology, Short greater sciatic notch, Abnormal sacroilia... |
ORPHA:1860 |
Achondroplasia |
|
Feeding difficulties, Genu varum, Short ribs, Rhizomelia, Ulnar bowing, Short femur, Short femora... |
OMIM:100800 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Skin rash, Colitis, Lymphopenia, Thrombocytopenia, Anterior uveitis, Ileal ulcer |
OMIM:616744 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Goiter, Increased circulating prolactin concentration, Decreased circulating T4 concentration, In... |
ORPHA:90674 |
Blount Disease |
|
Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis morphology, Tibial bowin... |
ORPHA:2768 |
Cutaneous Photosensitivity And Colitis, Lethal |
|
Diarrhea, Colitis |
OMIM:219095 |
Ataxia-Pancytopenia Syndrome |
|
Abnormal macrophage morphology, Abnormal platelet function, Abnormality of neutrophils, Hypoplast... |
ORPHA:2585 |
Congenital Hypothyroidism |
|
Goiter, Thyroid dysgenesis, Abnormality of the thyroid gland, Hypogonadism, Hypothyroidism, Anter... |
ORPHA:442 |
Spermatogenic Failure 25 |
|
Cryptozoospermia, Male infertility, Non-obstructive azoospermia, Early spermatogenesis maturation... |
OMIM:617960 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619672 |
Spermatogenic Failure 3 |
|
Reduced sperm motility, Male infertility |
OMIM:606766 |
Spermatogenic Failure, Y-Linked, 1 |
|
Reduced sperm motility, Male infertility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Reduced sperm motility, Male infertility |
OMIM:619380 |
Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Progressive cerebellar ataxia, Cognitive impairment, Azoospermia, Male infert... |
ORPHA:276183 |
Deafness-Infertility Syndrome |
|
Azoospermia, Sensorineural hearing impairment, Male infertility |
ORPHA:94064 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Increased circulating IgE level, Blepharitis, Duodenitis, Villous atrophy, Failure to thrive, Blo... |
OMIM:614328 |
Spermatogenic Failure 73 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619937 |
Immunodeficiency, Common Variable, 4 |
|
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... |
OMIM:613494 |
Langer Mesomelic Dysplasia |
|
High palate, Ulnar deviation of finger, Aplasia/Hypoplasia of the fibula, Mesomelic/rhizomelic li... |
ORPHA:2632 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Abnormal immunoglobulin level, Decreased proportion of CD3-positive T cells, Decreased circulatin... |
ORPHA:276 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Hip dislocation, Short thumb, Proximal placement of thumb, Bifid uvula, Short tibia, Cleft palate... |
OMIM:268305 |
Carney Complex, Type 1 |
|
Elevated circulating growth hormone concentration, Thyroid follicular hyperplasia, Pheochromocyto... |
OMIM:160980 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Hepatosplenomegaly, Decreased circulating total IgM, Complete or near-complete absence of specifi... |
OMIM:301081 |
Autosomal Recessive Spastic Paraplegia Type 71 |
|
Abnormal myelination |
ORPHA:401840 |
Orofaciodigital Syndrome Ix |
|
Camptodactyly, Hand polydactyly, High palate, Short tibia, Cleft palate, Toe syndactyly, Recurren... |
OMIM:258865 |
Immunodeficiency 68 |
|
Abscess, Abnormal natural killer cell count, B lymphocytopenia, T lymphocytopenia |
OMIM:612260 |
Cowden Syndrome 1 |
|
Goiter, Hyperthyroidism, Ovarian carcinoma, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypo... |
OMIM:158350 |
Spermatogenic Failure 48 |
|
Azoospermia, Spermatogenesis maturation arrest, Oligospermia, Male infertility |
OMIM:619108 |
5-Oxoprolinase Deficiency |
|
Enterocolitis, Diarrhea, Vomiting, Abdominal pain |
OMIM:260005 |
Erythrocytosis, Familial, 2 |
|
Increased red blood cell mass, Failure to thrive, Elevated circulating erythropoietin concentrati... |
OMIM:263400 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Gait disturbance, Ataxia, Abnormal auditory evoked potentials, Progressive sensorineural hearing ... |
OMIM:125250 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Flattened epiphysis, Rhizomelia, Dislocated radial head, Knee flexion contr... |
ORPHA:166016 |
Spermatogenic Failure 78 |
|
Microcephalic sperm head, Male infertility, Tapered sperm head |
OMIM:620170 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Decreased circulating total IgM, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decrea... |
OMIM:616100 |
Microphthalmia With Limb Anomalies |
|
Hip dislocation, Short tibia, Cleft palate, Toe syndactyly, Broad thumb, Tibial bowing, Foot olig... |
ORPHA:1106 |
Cd8 Deficiency, Familial |
|
Absence of CD8-positive T cells |
OMIM:608957 |
Wiskott-Aldrich Syndrome |
|
Increased circulating IgA level, Decreased circulating total IgM, Impaired lymphocyte transformat... |
OMIM:301000 |
Immunoglobulin A Deficiency 2 |
|
Abnormal lymphocyte morphology, Recurrent infection of the gastrointestinal tract, Decreased circ... |
OMIM:609529 |
Spermatogenic Failure 1 |
|
Male infertility, Oligospermia, Cryptozoospermia |
OMIM:258150 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Camptodactyly of finger, Ulnar deviation of finger, Truncal obesity, Micromelia, Brachydactyly, F... |
ORPHA:2928 |
Immunodeficiency 58 |
|
Chronic otitis media, Recurrent cutaneous abscess formation, Atrophic scars, Decreased specific a... |
OMIM:618131 |
Visceral Myopathy 2 |
|
Intestinal malrotation, Gastroesophageal reflux, Megaduodenum, Chronic constipation, Hiatus herni... |
OMIM:619350 |
Hypochondroplasia |
|
Abnormal metaphysis morphology, Genu varum, Bowing of the long bones, Osteoarthritis, Micromelia,... |
ORPHA:429 |
Spermatogenic Failure 57 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619528 |
Mccune-Albright Syndrome |
|
Goiter, Abnormal endocrine physiology, Elevated circulating growth hormone concentration, Increas... |
ORPHA:562 |
Atelosteogenesis Type I |
|
Malrotation of colon, Abnormality of fibula morphology, Limb undergrowth, Rhizomelia, Abnormal os... |
ORPHA:1190 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Patellar aplasia, Abnormality of fibula morphology, Synostosis of carpal bones, Aplasia/Hypoplasi... |
ORPHA:988 |
Orofaciodigital Syndrome Vi |
|
Preaxial foot polydactyly, Cleft palate, Toe syndactyly, Fibular aplasia, 11 pairs of ribs, Lobul... |
OMIM:277170 |
Stuve-Wiedemann Syndrome 1 |
|
Clubbing, Absent patellar reflexes, Contracture of the proximal interphalangeal joint of the 5th ... |
OMIM:601559 |
Partial Chromosome Y Deletion |
|
Non-obstructive azoospermia, Abnormal spermatogenesis, Oligospermia, Male infertility |
ORPHA:1646 |
Ficolin 3 Deficiency |
|
Necrotizing enterocolitis |
OMIM:613860 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Anemia, Impaired sensitivity to thyroid hormone, Increased T3/T4 ratio, Congenital hypothyroidism... |
OMIM:614450 |
Spermatogenic Failure 29 |
|
Non-obstructive azoospermia, Immotile sperm, Male infertility |
OMIM:618091 |
Leishmaniasis |
|
Abnormal macrophage morphology, Leukopenia, Increased circulating antibody level, Anemia, Thrombo... |
ORPHA:507 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Absent tibia, Bifid femur, Hand monodactyly, Foot monodactyly, Split hand |
OMIM:228250 |
Essential Fructosuria |
|
Hyperglycemia, Abnormal erythrocyte enzyme level |
ORPHA:2056 |
Spermatogenic Failure 63 |
|
Reduced progressive sperm motility, Oligospermia, Male infertility |
OMIM:619689 |
Spermatogenic Failure 70 |
|
Azoospermia, Reduced sperm motility, Male infertility, Oligospermia |
OMIM:619828 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Neutropenia, Failure to thrive, Recurrent otitis media, Recurrent pneumonia, Rectal abscess, Bron... |
OMIM:601495 |
Spermatogenic Failure 22 |
|
Non-obstructive azoospermia, Male infertility, Cryptozoospermia |
OMIM:617706 |
Immunodeficiency 46 |
|
Intermittent thrombocytopenia, Anemia, Chronic oral candidiasis, Failure to thrive, Decreased cir... |
OMIM:616740 |
Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
Inflammatory Bowel Disease 13 |
|
Inflammation of the large intestine |
OMIM:612244 |
Inflammatory Bowel Disease (Crohn Disease) 19 |
|
Inflammation of the large intestine |
OMIM:612278 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Anal atresia, Preaxial polydactyly, Postaxial polydactyly, Flat acetabular roof, Rhizomelia, Shor... |
OMIM:616300 |
Spermatogenic Failure 30 |
|
Azoospermia, Spermatogenesis maturation arrest, Cryptozoospermia, Male infertility |
OMIM:618110 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Abnormality of enteric ganglion morphology, Abdominal distention, Aganglionic megacolon, Constipa... |
OMIM:142623 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Enamel hypoplasia, Abnormal epiphysis morphology, Brachydactyly,... |
ORPHA:2643 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Small for gestational age, Hyperglycemia, Elevated hemoglobin A1c, Type I diabetes mellitus, Diab... |
OMIM:618858 |
Spondyloepiphyseal Dysplasia Congenita |
|
Flat acetabular roof, Dysplasia of the femoral head, Cleft palate, Short femur, Short femoral nec... |
ORPHA:94068 |
Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Rectovaginal fistula, Folli... |
OMIM:612567 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Decreased circulating IgA level, Increased circulating Ig... |
OMIM:608106 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Patellar aplasia, Aplasia of the 3rd finger, Absent tibia, Hand monodactyly, Short hallux, Aplasi... |
OMIM:119100 |
X-Linked Lymphoproliferative Disease |
|
Myocarditis, Hemophagocytosis, Fulminant hepatitis, Colitis, Histiocytosis, Increased circulating... |
ORPHA:2442 |
Spermatogenic Failure 5 |
|
Macrocephalic sperm head, Multiflagellar spermatozoa, Male infertility |
OMIM:243060 |
Epidermolysis Bullosa Acquisita |
|
Inflammation of the large intestine, Atypical scarring of skin, Abdominal pain |
ORPHA:46487 |
Acromesomelic Dysplasia 2B |
|
Deviation of finger, Absent toe, Rhizomelia, Short metatarsal, Short metacarpal, Patellar disloca... |
OMIM:228900 |
Spermatogenic Failure 21 |
|
Acephalic spermatozoa, Reduced sperm motility, Male infertility |
OMIM:617644 |
Shox-Related Short Stature |
|
Forearm undergrowth, High palate, Obesity, Lower limb undergrowth, Micrognathia, Short foot, Genu... |
ORPHA:314795 |
Spermatogenic Failure 16 |
|
Acephalic spermatozoa, Reduced sperm motility, Male infertility |
OMIM:617187 |
Spermatogenic Failure 44 |
|
Acephalic spermatozoa, Reduced sperm motility, Male infertility |
OMIM:619044 |
Spermatogenic Failure 64 |
|
Abnormal sperm head morphology, Reduced progressive sperm motility, Oligospermia, Male infertility |
OMIM:619696 |
Secondary Short Bowel Syndrome |
|
Malabsorption, Steatorrhea, Volvulus, Abdominal distention, Villous atrophy, Aganglionic megacolo... |
ORPHA:95427 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, EEG abnormality, Facial palsy, Sensorineural hearing impairm... |
OMIM:617519 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Hypoplasia of the thymus, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplastic... |
OMIM:619313 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Temporal optic disc pallor, Absent brainstem auditory responses, Ataxia, Diabetes mellitus, Senso... |
ORPHA:1215 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Leukopenia, Esophageal stenosis, Bone marrow hypocellularity, Colitis, Decreased circulating anti... |
OMIM:615190 |
Reticular Dysgenesis |
|
Chronic otitis media, Leukopenia, Skin rash, Malabsorption, Anemia, Abnormality of neutrophils, F... |
ORPHA:33355 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Cleft soft palate, Gastroesophageal reflux, Hip dysplasia, Abnormal metaphysis morphology, Irregu... |
ORPHA:93316 |
Spermatogenic Failure 50 |
|
Azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619145 |
Lead Poisoning |
|
Small for gestational age, Anemia, Abnormality of humoral immunity, Increased circulating IgE lev... |
ORPHA:330015 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Clubbing, Increased circulating interleukin 8 concentration, Failure to thrive in infancy, Cornea... |
OMIM:301220 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Aplasia/Hypoplasia of the fibula, Abnormal thumb morphology, Abnormal hip bone morphology, Synost... |
ORPHA:2639 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Metaphyseal spurs, Anal atresia, Intestinal malrotation, Absent tibia, Preaxial polydactyly, Meta... |
OMIM:613091 |
Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Hip dislocation, Short thumb, Abnormally shaped carpal bones, Short metacarpal, Patellar dislocat... |
ORPHA:968 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Increased circulating IgA level, Thrombocytopenia |
OMIM:314000 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Macroglossia, Malabsorption, Decreased circulating IgA level, Reduced natural killer cell count, ... |
OMIM:242860 |
Classic Galactosemia |
|
Oligomenorrhea, Reduced bone mineral density, Decreased fertility in females, Gait disturbance, P... |
ORPHA:79239 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Eczematoid dermatitis, Inflammatory abnormality of the skin, Malabsorption, Colitis, Cachexia, Ga... |
ORPHA:37042 |
Immunodeficiency 40 |
|
Rectal fistula, Intermittent diarrhea, Eosinophilic granuloma, Focal active colitis, Chronic oral... |
OMIM:616433 |
Bent Bone Dysplasia Syndrome 2 |
|
Short 1st metacarpal, Short lower limbs, Arthrogryposis multiplex congenita, Short ribs, Short ti... |
OMIM:620076 |
Familial Multinodular Goiter |
|
Testicular seminoma, Multinodular goiter, Hyperthyroidism, Thyroid carcinoma, Ovarian neoplasm, S... |
ORPHA:276399 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Broad long bones, Broad femoral head, Broad radial metaphysis, Sclerosis of middle finger phalanx... |
ORPHA:85188 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Increased circulating IgA level, Leukocytosis, Failure to thrive in infancy, Increased circulatin... |
OMIM:617099 |
Aspergillosis |
|
Increased circulating IgE level, Neutropenia, Eosinophilia |
ORPHA:1163 |
Trichohepatoenteric Syndrome 2 |
|
Small for gestational age, Chronic hepatitis, Villous atrophy, Colitis, Failure to thrive, Bloody... |
OMIM:614602 |
Omenn Syndrome |
|
Hypoplasia of the thymus, Anemia, Severe B lymphocytopenia, Eosinophilia, Failure to thrive, Thro... |
OMIM:603554 |
Immunodeficiency 82 With Systemic Inflammation |
|
Anoperineal fistula, Intractable diarrhea, Colitis, Abdominal pain, Gastritis, Decreased circulat... |
OMIM:619381 |
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Decreased circulating total IgM, Metaphyseal striations, Bronchiectasis |
OMIM:615139 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Increased circulating IgE level |
ORPHA:89843 |
Thrombocytopenia 1 |
|
Increased circulating IgA level, Intermittent thrombocytopenia, Increased circulating IgE level, ... |
OMIM:313900 |
Microcephaly-Micromelia Syndrome |
|
Oligodactyly, Forearm undergrowth, Absent radius, Missing ribs, Short tibia, Cleft palate, Microm... |
OMIM:251230 |
Schnitzler Syndrome |
|
Increased circulating IgM level, Leukocytosis, Splenomegaly, Anemia |
ORPHA:37748 |
Esophagitis, Eosinophilic, 2 |
|
Esophagitis, Eosinophilia, Dysphagia, Failure to thrive, Vomiting |
OMIM:613412 |
Esophagitis, Eosinophilic, 1 |
|
Esophagitis, Eosinophilia, Dysphagia, Failure to thrive, Vomiting |
OMIM:610247 |
Spermatogenic Failure 32 |
|
Non-obstructive azoospermia, Male infertility |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Non-obstructive azoospermia, Male infertility |
OMIM:619831 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Hip dysplasia, Short thumb, Metatarsal synostosis, Flattened epiphysis, Rhizomelia, Short metatar... |
ORPHA:93307 |
Leukodystrophy, Hypomyelinating, 24 |
|
B lymphocytopenia |
OMIM:619851 |
Optic Atrophy 8 |
|
Prolonged somatosensory evoked potentials, Optic atrophy, Abnormal auditory evoked potentials, Se... |
OMIM:616648 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Genu varum, Metaphyseal cupping, Flattened epiphysis, Rhizomelia, Osteoarthritis, Ulnar bowing, C... |
OMIM:602111 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short finger, Hypoplastic inferior ilia, Metaphyseal cupping, Metaphyseal widening, Rhizomelia, S... |
OMIM:608940 |
Growth Hormone Deficiency, Isolated Partial |
|
Postnatal growth retardation, Short stature |
OMIM:615925 |
Hemoglobin E Disease |
|
Increased red blood cell count, Abnormal hemoglobin, Decreased mean corpuscular volume, Hypochrom... |
ORPHA:2133 |
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Abdominal pain, Nausea, Esophageal exudate, Lactose intolerance, Feeding difficulties in infancy,... |
ORPHA:411696 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Small for gestational age, Diabetes mellitus, Hyperglycemia, Elevated hemoglobin A1c, Type I diab... |
OMIM:606176 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Inguinal hernia, Hip dislocation, Proximal placement of thumb, Short metatarsal, Preaxial foot po... |
OMIM:609945 |
Osteogenesis Imperfecta, Type X |
|
Inguinal hernia, Pyloric stenosis, Rhizomelia, Micromelia, Short femur, Recurrent pneumonia, Tibi... |
OMIM:613848 |
Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Tapered sperm head, Male infertility |
OMIM:619258 |
Spermatogenic Failure 26 |
|
Acephalic spermatozoa, Male infertility |
OMIM:617961 |
Multiple Endocrine Neoplasia Type 1 |
|
Thymoma, Parathyroid carcinoma, Increased circulating cortisol level, Insulinoma, Increased serum... |
ORPHA:652 |
Atelosteogenesis Type Iii |
|
High palate, Abnormality of the humerus, Hip dislocation, Absent radius, Short tibia, Patellar di... |
ORPHA:56305 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Maternal diabetes, Diabetes mellitus, Hyperglycemia, Abnormality of body mass index, Maturity-ons... |
OMIM:616329 |
Tsh-Secreting Pituitary Adenoma |
|