Specific Language Impairment 2 |
|
Deficit in phonologic short-term memory |
OMIM:606712 |
Specific Language Impairment 1 |
|
Deficit in phonologic short-term memory |
OMIM:606711 |
Presenile Dementia, Kraepelin Type |
|
Dementia |
OMIM:176600 |
Monoamine Oxidase A Deficiency |
|
Cognitive impairment |
ORPHA:3057 |
Alzheimer Disease 10 |
|
Dementia, Memory impairment |
OMIM:609636 |
Microangiopathy And Leukoencephalopathy, Pontine, Autosomal Dominant |
|
Cognitive impairment, Dementia |
OMIM:618564 |
Schizophrenia 19 |
|
Cognitive impairment |
OMIM:617629 |
Immunodeficiency 61 |
|
Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased circulating IgG4 lev... |
OMIM:300310 |
Immunodeficiency, Common Variable, 4 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Complete or near-complete absen... |
OMIM:613494 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased circulating total IgM, Decreased circulating IgA level, Decreased specific antibody res... |
OMIM:616452 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density, Tall stature, Obesity |
OMIM:618406 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
Osteosclerotic Metaphyseal Dysplasia |
|
Increased bone mineral density, Clavicular sclerosis, Failure to thrive |
OMIM:615198 |
Caspase 8 Deficiency |
|
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... |
OMIM:607271 |
Immunodeficiency, Common Variable, 3 |
|
Chronic decreased circulating total IgG, Decreased circulating total IgM, Reduced isohemagglutini... |
OMIM:613493 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Decreased circulating antibody level, Agammaglobulinemia |
OMIM:616911 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Failure to thrive in infancy, Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:618987 |
Buschke-Ollendorff Syndrome |
|
Flexion contracture, Osteopoikilosis, Joint stiffness |
OMIM:166700 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:619707 |
Immunodeficiency 24 |
|
Decreased circulating IgG2 level, Partial absence of specific antibody response to tetanus vaccin... |
OMIM:615897 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Increased bone mineral density, Ectopic ossification |
OMIM:602475 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:613502 |
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
Severe Combined Immunodeficiency, X-Linked |
|
Decreased circulating total IgM, Decreased circulating IgA level, Reduced natural killer cell act... |
OMIM:300400 |
Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
Immunodeficiency, Common Variable, 14 |
|
Decreased circulating total IgM, Decreased specific antibody response to vaccination, Decreased c... |
OMIM:617765 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Decreased circulating IgA level, Decreased circulating Ig... |
OMIM:606843 |
Immunodeficiency 44 |
|
Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level |
OMIM:616636 |
Immunodeficiency 86 |
|
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level |
OMIM:619549 |
Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Decreased circulating total IgM |
OMIM:606445 |
Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM |
OMIM:610798 |
Transcobalamin Deficiency |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
ORPHA:859 |
Melorheostosis With Osteopoikilosis |
|
Osteopoikilosis, Abnormal cortical bone morphology |
ORPHA:1879 |
Immunoerythromyeloid Hypoplasia |
|
Decreased circulating IgG level |
OMIM:242880 |
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Increased circulating IgE level, Decreased circulating total IgM, Decreased circulating IgG level... |
OMIM:618944 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Decreased circulating total IgM, Decreased circulating IgA level, Agammaglobulinemia |
OMIM:613500 |
Immunodeficiency 62 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Reduced isohemagglutinin level,... |
OMIM:618459 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Decreased circulating IgG level |
OMIM:235550 |
Sclerosteosis |
|
Craniofacial hyperostosis, Tall stature, Abnormal cortical bone morphology, Increased bone minera... |
ORPHA:3152 |
Agammaglobulinemia 5, Autosomal Dominant |
|
Agammaglobulinemia |
OMIM:613506 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Impaired Ig class switch recombination, Decreased circulating IgA level, Increased circulating Ig... |
OMIM:605258 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
Melorheostosis |
|
Increased bone mineral density, Joint stiffness, Hyperostosis, Arthritis, Failure to thrive, Ecto... |
ORPHA:2485 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:146830 |
Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis |
ORPHA:3416 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:612692 |
Van Buchem Disease |
|
Increased bone mineral density, Thickened cortex of long bones, Cranial hyperostosis |
OMIM:239100 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased circulating total IgM, Partial absence of specific antibody response to tetanus vaccine... |
OMIM:619824 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Overweight, Obesity |
OMIM:613375 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Decreased circulating IgG level, Decreased circulating Ig... |
OMIM:608106 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Craniosynostosis, Rickets, Hypophosphatemic rickets, Increased bone mineral density |
OMIM:241520 |
Immunodeficiency 33 |
|
Increased circulating IgA level, Decreased circulating total IgM |
OMIM:300636 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Reduced bone mineral density, Decreased circulating total IgM, Joint stiffness, Decreased circula... |
OMIM:620210 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
Isolated Osteopoikilosis |
|
Sclerosis of foot bone, Increased bone mineral density, Sclerotic foci in hand bones, Joint stiff... |
ORPHA:166119 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:300861 |
Gamma-A-Globulin, Defect In Assembly Of |
|
Decreased circulating IgA level |
OMIM:137050 |
Immunodeficiency 70 |
|
Decreased circulating total IgM, Decreased circulating antibody level, Decreased circulating tota... |
OMIM:618969 |
Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Clavicular sclerosis, Generalized osteosclerosis, Abnormal cortical bo... |
ORPHA:2790 |
Lymphoma, Hodgkin, Classic |
|
Polyclonal elevation of IgM |
OMIM:236000 |
Immunodeficiency, Common Variable, 7 |
|
Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic partially decreas... |
OMIM:614699 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Decreased circulating IgG level |
OMIM:242870 |
Flynn-Aird Syndrome |
|
Joint stiffness, Increased bone mineral density, Osteoporosis, Increased bone density with cystic... |
OMIM:136300 |
Osteopetrosis, Autosomal Dominant 2 |
|
Generalized osteosclerosis, Bone marrow hypocellularity, Osteopetrosis, Recurrent fractures, Mand... |
OMIM:166600 |
Immunodeficiency 105 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:619924 |
Osteochondrosis Of The Metatarsal Bone |
|
Sclerosis of foot bone, Thickened cortex of bones, Joint stiffness, Arthritis |
ORPHA:564003 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Craniosynostosis, Increased bone mineral density |
ORPHA:178377 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Polyclonal elevation of IgM, Monoclonal immunoglobulin M proteinemia |
OMIM:153600 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
Immunodeficiency, Common Variable, 5 |
|
Chronic decreased circulating total IgG |
OMIM:613495 |
Summitt Syndrome |
|
Craniosynostosis, Obesity |
OMIM:272350 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:611926 |
Obesity |
|
Increased waist to hip ratio, Obesity |
OMIM:601665 |
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Joint stiffness, Obesity |
ORPHA:1078 |
Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:619281 |
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Decreased circulating total IgM |
OMIM:615139 |
Immunodeficiency 15B |
|
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating antibody level, ... |
OMIM:615592 |
Mueller-Weiss Syndrome |
|
Knee osteoarthritis, Sclerosis of foot bone, Joint stiffness, Arthritis, Limitation of movement a... |
ORPHA:566943 |
Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating total IgM, Oligoarthritis, Failure to thrive in infancy, Decreased circulat... |
OMIM:619510 |
Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
Osteosclerosis With Ichthyosis And Fractures |
|
Increased bone mineral density, Cortical thickening of long bone diaphyses, Recurrent fractures |
OMIM:166740 |
Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
Osteopetrosis, Autosomal Dominant 1 |
|
Generalized osteosclerosis, Osteopetrosis, Calvarial osteosclerosis, Thickened cortex of long bones |
OMIM:607634 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Increased circulating IgE level, Decreased circulating total IgM |
OMIM:617638 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Decreased circulating antibody level, Decreased circulating IgG level, Decreased circulating IgA ... |
OMIM:614069 |
Schnitzler Syndrome |
|
Increased bone mineral density, Arthritis, Increased circulating IgM level |
ORPHA:37748 |
Spermatogenic Failure, X-Linked, 1 |
|
Obesity |
OMIM:305700 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level |
ORPHA:2643 |
Immunodeficiency, Common Variable, 1 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:607594 |
Ghosal Hematodiaphyseal Dysplasia |
|
Increased bone mineral density, Bone marrow hypocellularity, Hyperostosis cranialis interna, Myel... |
OMIM:231095 |
Immunodeficiency 11 |
|
Reduced antigen-specific T cell proliferation, Decreased circulating antibody level, Agammaglobul... |
OMIM:615206 |
Immunodeficiency 50 |
|
Decreased circulating antibody level |
OMIM:300988 |
Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Decreased circulating antibody level |
ORPHA:2572 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2204 |
Immunodeficiency 8 With Lymphoproliferation |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:615401 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... |
OMIM:301081 |
Immunodeficiency 60 And Autoimmunity |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:618394 |
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
Decreased circulating total IgM, Increased circulating IgE level, Decreased circulating IgA level... |
OMIM:619752 |
Immunodeficiency 102 |
|
Decreased circulating total IgM, Increased circulating interleukin 6 concentration, Partial absen... |
OMIM:301082 |
Rosaï-Dorfman Disease |
|
Osteolysis, Dysgammaglobulinemia |
ORPHA:158014 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Metatarsal diaphyseal endosteal sclerosis, Hyperostosis, Clavicular sclerosis, Thickened cortex o... |
OMIM:144750 |
Immunodeficiency 96 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:619774 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Cortical sclerosis, Diaphyseal sclerosis, Craniofacial osteosclerosis, Craniofacial hyperostosis |
OMIM:122860 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Decreased circulating total IgM, Decreased circulating IgA level, Arthritis, Decreased circulatin... |
OMIM:616100 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia |
OMIM:200900 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Absent isohemagglutinin level, Failure to thrive, Agammaglobulinemia |
OMIM:613501 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased circulating total IgM, Decreased circulating IgG level, Agammaglobulinemia |
OMIM:619705 |
Immunodeficiency 48 |
|
Panhypogammaglobulinemia, Failure to thrive |
OMIM:269840 |
Immunoneurologic Disorder, X-Linked |
|
Small for gestational age, Decreased circulating IgG2 level |
OMIM:300076 |
Mu-Heavy Chain Disease |
|
Osteoporosis, Osteolysis, Increased circulating antibody level, Weight loss |
ORPHA:100024 |
Osteopetrosis, Autosomal Recessive 9 |
|
Increased bone mineral density, Osteopetrosis, Cortical sclerosis, Pathologic fracture |
OMIM:620366 |
Immunodeficiency 95 |
|
Increased circulating IgG3 level, Decreased circulating IgG3 level |
OMIM:619773 |
Intermediate Osteopetrosis |
|
Generalized osteosclerosis, Osteosclerosis of the base of the skull, Abnormality of bone mineral ... |
ORPHA:210110 |
Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia |
OMIM:109130 |
Immunoglobulin A Deficiency 2 |
|
Decreased circulating IgA level |
OMIM:609529 |
Caffey Disease |
|
Calvarial hyperostosis, Increased circulating antibody level, Cortical thickening of long bone di... |
ORPHA:1310 |
Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis |
OMIM:611497 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Panhypogammaglobulinemia, Agammaglobulinemia |
OMIM:615214 |
Sodium-Dependent Multivitamin Transporter Deficiency |
|
Decreased circulating IgG level |
OMIM:618973 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Small for gestational age, Decreased circulating IgA level, Generalized bone demineralization |
OMIM:215250 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Small for gestational age, Increased circulating IgE level, Failure to thrive in infancy, Increas... |
OMIM:617241 |
Immunodeficiency 22 |
|
Decreased circulating total IgM, Decreased circulating IgA level, Failure to thrive, Decreased ci... |
OMIM:615758 |
Immunodeficiency, Common Variable, 11 |
|
Increased circulating IgE level, Decreased circulating IgG level, Failure to thrive |
OMIM:615767 |
Bardet-Biedl Syndrome 11 |
|
Obesity |
OMIM:615988 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased circulating total IgM, Decreased circulating IgA level, Failure to thrive, Reduced anti... |
ORPHA:331206 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Increased circulating IgM level, Decreased circulating IgG2 level, Decreased specific pneumococca... |
OMIM:615513 |
Immunodeficiency 25 |
|
Increased circulating IgA level, Decreased circulating IgG2 level, Increased circulating IgE leve... |
OMIM:610163 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
Decreased circulating IgG level |
OMIM:233650 |
Bardet-Biedl Syndrome 14 |
|
Obesity |
OMIM:615991 |
Lymphoproliferative Syndrome 3 |
|
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ... |
OMIM:618261 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia |
OMIM:616941 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Failure to thrive secondary to recurrent infections, Panhypogammaglobulinemia, Arthritis, Failure... |
OMIM:601457 |
Osteopetrosis, Autosomal Recessive 7 |
|
Decreased circulating total IgM, Decreased circulating IgA level, Abnormal trabecular bone morpho... |
OMIM:612301 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Decreased circulating total IgM, Decreased circulating IgA level |
OMIM:614878 |
Bardet-Biedl Syndrome 13 |
|
Obesity |
OMIM:615990 |
Immunoglobulin A Deficiency 1 |
|
Decreased circulating IgA level |
OMIM:137100 |
Immunodeficiency, Common Variable, 10 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:615577 |
Sneddon Syndrome |
|
Decreased circulating total IgM |
OMIM:182410 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased circulating IgA level, Increased circulating IgM level, Increased circulating IgG level... |
OMIM:618534 |
Paget Disease Of Bone 3 |
|
Patchy osteosclerosis, Osteolysis, Fractures of the long bones |
OMIM:167250 |
Transcobalamin Ii Deficiency |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:275350 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Increased circulating IgG level, Increased circulating IgE level, Decreased circulating total IgM |
OMIM:243700 |
Ankylosing Vertebral Hyperostosis With Tylosis |
|
Osteoarthritis, Obesity |
ORPHA:2206 |
Whim Syndrome 1 |
|
Decreased circulating antibody level, Decreased circulating IgG level |
OMIM:193670 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased circulating antibody level, Decreased circulating IgA level, Failure to thrive |
OMIM:617744 |
Immunodeficiency 46 |
|
Decreased circulating antibody level, Failure to thrive |
OMIM:616740 |
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia |
|
Flexion contracture, Transient hypogammaglobulinemia of infancy |
OMIM:251240 |
Osteopetrosis, Autosomal Recessive 4 |
|
Increased bone mineral density, Osteopetrosis, Recurrent fractures |
OMIM:611490 |
Non Rare In Europe: Buschke-Ollendorff Syndrome |
|
Craniosynostosis, Generalized osteosclerosis, Joint stiffness, Hyperostosis, Arthritis, Recurrent... |
ORPHA:1306 |
Lethal Recessive Chondrodysplasia |
|
Generalized osteosclerosis |
ORPHA:1423 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age |
OMIM:256450 |
Intellectual Developmental Disorder, X-Linked 97 |
|
Obesity |
OMIM:300803 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Craniosynostosis, Obesity |
ORPHA:88643 |
Primary Intestinal Lymphangiectasia |
|
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level... |
ORPHA:90362 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Impaired Ig class switch recombination, Increased circulating IgA level, Decreased circulating Ig... |
OMIM:308230 |
Osteopetrosis, Autosomal Recessive 1 |
|
Craniosynostosis, Increased bone mineral density, Pathologic fracture, Calvarial osteosclerosis, ... |
OMIM:259700 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Truncal obesity, Large for gestational age, Obesity |
OMIM:240900 |
Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgG level |
OMIM:312863 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Increased circulating IgG level, Increased circulating IgM level |
OMIM:619220 |
Chondrodysplasia, Blomstrand Type |
|
Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification |
OMIM:215045 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Decreased circulating total IgM, Decreased specific antibody response to vaccination, Decreased l... |
ORPHA:221139 |
Dyskeratosis Congenita, Digenic |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:620040 |
Lambert Syndrome |
|
Failure to thrive in infancy, Decreased circulating antibody level |
ORPHA:1296 |
Osteogenesis Imperfecta, Type Xiii |
|
Increased bone mineral density, Reduced bone mineral density, Osteoporosis, Limitation of knee mo... |
OMIM:614856 |
Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Synostosis of carpal bones, Limitation of joint mobility, Abnorma... |
ORPHA:90650 |
Immunodeficiency 37 |
|
Decreased circulating antibody level |
OMIM:616098 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Decreased circulating total IgM, Decreased specific antibody response to vaccination, Decreased c... |
OMIM:614700 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Decreased circulating total IgM, Small for gestational age, Decreased circulating IgA level, Fail... |
OMIM:607143 |
Majeed Syndrome |
|
Increased bone mineral density, Cachexia, Failure to thrive, Osteomyelitis, Increased susceptibil... |
ORPHA:77297 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Large for gestational age |
OMIM:601820 |
Camurati-Engelmann Disease |
|
Diaphyseal sclerosis, Increased bone mineral density, Slender build, Cortical thickening of long ... |
OMIM:131300 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Increased bone mineral density, Decreased body weight, Osteopetrosis |
OMIM:617306 |
Maternal Uniparental Disomy Of Chromosome 1 |
|
Panhypogammaglobulinemia, Epiphyseal stippling, Failure to thrive |
ORPHA:251009 |
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Joint hypermobility, Overweight |
OMIM:620065 |
Immunodeficiency 52 |
|
Decreased circulating antibody level, Failure to thrive |
OMIM:617514 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased circulating antibody level, Decreased circulating IgG level, Decreased circulating IgA ... |
OMIM:619802 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Decreased circulating total IgM, Failure to thrive in infancy, Partial IgA deficiency, Decreased ... |
ORPHA:35078 |
Immunodeficiency 43 |
|
Abnormal circulating IgM level, Decreased circulating IgG level, Abnormal circulating IgA level, ... |
OMIM:241600 |
Riddle Syndrome |
|
Decreased circulating IgG level |
OMIM:611943 |
Neuronal Intestinal Pseudoobstruction |
|
Decreased circulating antibody level |
ORPHA:99811 |
Osteopetrosis, Autosomal Recessive 8 |
|
Osteopetrosis, Failure to thrive |
OMIM:615085 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Decreased circulating total IgM, Knee flexion contracture, Elbow contracture, Delayed pubic bone ... |
OMIM:618162 |
Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Impaired T cell function, Parti... |
OMIM:240500 |
Gaucher Disease Type 1 |
|
Increased bone mineral density, Osteolysis, Increased circulating antibody level, Pathologic frac... |
ORPHA:77259 |
Immunodeficiency, Common Variable, 13 |
|
Decreased circulating antibody level |
OMIM:616873 |
Reticular Dysgenesis |
|
Decreased circulating antibody level, Weight loss, Failure to thrive |
ORPHA:33355 |
Spondyloepiphyseal Dysplasia Tarda |
|
Increased bone mineral density, Knee osteoarthritis, Stiff knee, Abnormal epiphyseal ossification... |
ORPHA:93284 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Decreased circulating antibody level, Agammaglobulinemia |
OMIM:616910 |
Immunodeficiency 47 |
|
Decreased circulating total IgM, Decreased circulating total IgA, Decreased circulating total IgG... |
OMIM:300972 |
Immunodeficiency 12 |
|
Absent isohemagglutinin level, Osteoporosis, Decreased lymphocyte proliferation in response to an... |
OMIM:615468 |
Agammaglobulinemia, X-Linked |
|
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgE, Sept... |
OMIM:300755 |
Albers-Schönberg Osteopetrosis |
|
Generalized osteosclerosis, Osteoarthritis, Arthritis, Osteomyelitis, Recurrent fractures, Mandib... |
ORPHA:53 |
Diastrophic Dysplasia |
|
Increased bone mineral density, Camptodactyly of finger, Joint stiffness, Joint hyperflexibility |
ORPHA:628 |
Immunodeficiency 27A |
|
Increased circulating IgG level, Salmonella osteomyelitis, Weight loss, Increased circulating IgM... |
OMIM:209950 |
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, Increased circulating IgE leve... |
OMIM:102700 |
Dysosteosclerosis |
|
Coarse metaphyseal trabecularization, Craniofacial hyperostosis, Increased bone mineral density, ... |
ORPHA:1782 |
Immunodeficiency 57 With Autoinflammation |
|
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ... |
OMIM:618108 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Decreased specific pneumococcal antibody level |
OMIM:617006 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Increased bone mineral density, Osteopenia, Coarse metaphyseal trabecularization, Sclerosis of pr... |
ORPHA:85188 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased circulating antibody level, Absent specific antibody response |
OMIM:619846 |
Urban-Rogers-Meyer Syndrome |
|
Camptodactyly of finger, Flexion contracture of toe, Increased circulating IgE level, Osteoporosi... |
ORPHA:3409 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased circulating IgG level, Increased circulating IgE level |
OMIM:618982 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Increased bone mineral density, Abnormal bone ossification, Delayed patellar ossification |
ORPHA:163649 |
Immunodeficiency, Common Variable, 6 |
|
Chronic decreased circulating total IgG, Complete or near-complete absence of specific antibody r... |
OMIM:613496 |
X-Linked Immunoneurologic Disorder |
|
Decreased circulating IgG2 level |
ORPHA:2571 |
Non Rare In Europe: Central Precocious Puberty |
|
Obesity, Overgrowth, Increased body weight |
ORPHA:759 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased circulating IgA level, Abnormal circulating IgM level, Increased circulating IgG level,... |
OMIM:618048 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Increased bone mineral density, Osteoporosis, Ankylosis, Osteopenia, Failure to thrive, Recurrent... |
OMIM:239000 |
Osteopetrosis, Autosomal Recessive 2 |
|
Diaphyseal sclerosis, Osteopetrosis, Osteomyelitis, Recurrent fractures, Cranial hyperostosis, Ma... |
OMIM:259710 |
Epilepsy-Telangiectasia Syndrome |
|
Decreased circulating antibody level, Decreased circulating IgA level |
ORPHA:1951 |
Myotonic Dystrophy 2 |
|
Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:602668 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Decreased circulating antibody level |
ORPHA:85317 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Craniosynostosis, Decreased circulating total IgM, Decreased circulating IgA level, Osteopenia, J... |
ORPHA:369837 |
Macrocephaly/Autism Syndrome |
|
Overgrowth, Joint laxity, Decreased circulating antibody level, Large for gestational age, Obesity |
OMIM:605309 |
Mogs-Cdg |
|
Decreased circulating antibody level, Decreased circulating IgG level, Decreased circulating IgA ... |
ORPHA:79330 |
Craniometaphyseal Dysplasia |
|
Craniofacial hyperostosis, Osteopetrosis |
ORPHA:1522 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Increased circulating IgA level, Reduced natural killer cell activity, Abnormal circulating IgG l... |
OMIM:300291 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Failure to thrive, Agammaglobulinemia |
OMIM:619693 |
Immunodeficiency 89 And Autoimmunity |
|
Increased circulating IgA level, Increased circulating IgE level, Reduced circulating interleukin... |
OMIM:619632 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Reduced natural killer cell activity, Increased circulating IgM level, Decreased circulating IgG ... |
OMIM:308240 |
Cortisone Reductase Deficiency 2 |
|
Obesity |
OMIM:614662 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Osteoporosis, Abdominal obesity, Increased body weight |
OMIM:615954 |
Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgA level, Increased circulating IgM level, Reduced delayed hypersensitivit... |
OMIM:601859 |
Ataxia-Pancytopenia Syndrome |
|
Decreased circulating antibody level, Abnormal platelet function |
ORPHA:2585 |
Obesity And Hypopigmentation |
|
Overgrowth, Obesity |
OMIM:620195 |
Poems Syndrome |
|
Sclerosis of foot bone, Sclerosis of hand bone, Increased circulating antibody level, Sclerosis o... |
ORPHA:2905 |
Beemer-Ertbruggen Syndrome |
|
Increased bone mineral density |
ORPHA:1237 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased circulating antibody level |
OMIM:301045 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Craniosynostosis, Decreased circulating total IgM, Increased circulating IgE level, Decreased cir... |
ORPHA:508533 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Thin bony cortex, Increased bone mineral density, Osteopenia |
ORPHA:85184 |
Riddle Syndrome |
|
Decreased circulating total IgM, Decreased circulating IgA level, Arthritis, Decreased circulatin... |
ORPHA:420741 |
Summitt Syndrome |
|
Craniosynostosis, Tall stature, Camptodactyly of finger, Obesity |
ORPHA:3210 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Abnormal natural killer cell physiology, Decreased circulating antibody level |
OMIM:613101 |
Multiple Myeloma |
|
Increased circulating IgA level, Pathologic fracture, Osteopenia, Increased circulating IgG level... |
ORPHA:29073 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Pathologic fracture, Osteomyelitis leading to amputation due to slow healing fractures, Osteopeni... |
OMIM:112250 |
Pycnodysostosis |
|
Generalized osteosclerosis, Coronal craniosynostosis, Increased bone mineral density, Overweight,... |
ORPHA:763 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Decreased circulating total IgM, Decreased circulating IgA level, Arthritis, Decreased circulatin... |
ORPHA:183675 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Juvenile rheumatoid arthritis, Decreased circulating IgG level, Decreased circulating IgA level, ... |
ORPHA:275 |
Selective Igm Deficiency |
|
Decreased circulating total IgM, Decreased specific antibody response to vaccination, Decreased c... |
ORPHA:331235 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Increased circulating antibody level, Failure to thrive secondary to recurrent infections, Decrea... |
ORPHA:169160 |
Cernunnos-Xlf Deficiency |
|
Decreased circulating antibody level |
ORPHA:169079 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Osteoporosis, Obesity |
OMIM:610628 |
Tricho-Dento-Osseous Syndrome |
|
Increased bone mineral density |
ORPHA:3352 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Childhood-onset truncal obesity, Obesity |
ORPHA:71529 |
Bloom Syndrome |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:210900 |
Roifman Syndrome |
|
Delayed proximal femoral epiphyseal ossification, Decreased circulating antibody level, Hip contr... |
ORPHA:353298 |
Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgA level, Decreased circulating total IgM, Decreased specific anti-polysac... |
ORPHA:3261 |
Bloom Syndrome |
|
Small for gestational age, Decreased circulating total IgM, Decreased circulating IgA level, Decr... |
ORPHA:125 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Coarse metaphyseal trabecularization, Facial hyperostosis, Osteopetrosis, Increased bone mineral ... |
ORPHA:2780 |
Alopecia Antibody Deficiency |
|
Decreased circulating antibody level |
ORPHA:1006 |
Bone Marrow Failure Syndrome 4 |
|
Bone marrow hypocellularity, Decreased circulating antibody level |
OMIM:618116 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased CD69 upregulation upon TCR activation, Decreased specific anti-polysaccharide antibody ... |
OMIM:300853 |
Alpha-Heavy Chain Disease |
|
Dysgammaglobulinemia |
ORPHA:100025 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Small for gestational age, Epiphyseal stippling, Increased body weight |
OMIM:274300 |
Pseudopseudohypoparathyroidism |
|
Osteoporosis, Obesity |
OMIM:612463 |
Werner Syndrome |
|
Increased bone mineral density, Osteoporosis, Slender build, Joint stiffness |
ORPHA:902 |
Lymphangiectasia, Intestinal |
|
Decreased circulating IgG level |
OMIM:152800 |
Xq28 (MECP2) duplication |
|
Decreased circulating IgA level, Failure to thrive |
DECIPHER:45 |
X-Linked Lymphoproliferative Disease |
|
Increased circulating IgA level, Decreased circulating total IgM, Bone marrow hypocellularity, De... |
ORPHA:2442 |
Ataxia-Telangiectasia |
|
Decreased circulating antibody level, Failure to thrive |
ORPHA:100 |
Immunodeficiency 92 |
|
Partial absence of specific antibody response to tetanus vaccine, Abnormal B cell proliferation, ... |
OMIM:619652 |
Ring Chromosome 21 Syndrome |
|
Decreased circulating antibody level, Fused thoracic vertebrae |
ORPHA:1445 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Osteoporosis, Osteopenia, Increased body weight |
OMIM:615830 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Decreased circulating antibody level |
OMIM:300635 |
Hepatic Veno-Occlusive Disease |
|
Increased body weight |
ORPHA:890 |
Dysosteosclerosis |
|
Sclerosis of hand bone, Osteopenia, Clavicular sclerosis, Sclerotic scapulae, Increased susceptib... |
OMIM:224300 |
Autoimmune Hypoparathyroidism |
|
Increased bone mineral density |
ORPHA:36913 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Increased circulating IgG level, Failure to thrive |
OMIM:618495 |
Autosomal Agammaglobulinemia |
|
Failure to thrive, Osteomyelitis, Arthritis, Agammaglobulinemia |
ORPHA:33110 |
Gaucher Disease Type 3 |
|
Increased bone mineral density, Osteolysis, Increased susceptibility to fractures, Increased circ... |
ORPHA:77261 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased circulating total IgM, Decreased circulating total IgA, Osteomalacia, Decreased circula... |
OMIM:619381 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Increased circulating IgA level, Increased circulating antibody level, Increased circulating IgE ... |
ORPHA:169154 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Craniosynostosis, Rickets of the lower limbs, Increased bone mineral density, Enthesitis, Hypopho... |
ORPHA:289176 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Decreased circulating antibody level, Panhypogammaglobulinemia, Failure to thrive, Agammaglobulin... |
OMIM:601495 |
Secondary Intestinal Lymphangiectasia |
|
Decreased circulating antibody level, Decreased circulating IgA level, Decreased circulating tota... |
ORPHA:90363 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Septic arthritis, Decreased circulating antibody level |
OMIM:617780 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Abnormality of B cell physiology, Cutaneous anergy, Decreased lymphocyte proliferation in respons... |
OMIM:600802 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Decreased circulating antibody level |
OMIM:616576 |
Desmosterolosis |
|
Increased bone mineral density, Osteopetrosis, Failure to thrive |
ORPHA:35107 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Decreased circulating antibody level |
ORPHA:1116 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Decreased circulating IgA level, Failure to thrive, Increased circulating IgM level |
OMIM:242860 |
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Generalized joint laxity, Increased body weight |
ORPHA:589905 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Craniosynostosis, Decreased circulating total IgM, Decreased circulating IgG level, Decreased cir... |
OMIM:620005 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Increased circulating IgG level, Limitation of movement at ankles, Limited hip movement, Limited ... |
ORPHA:206594 |
Igg4-Related Aortitis |
|
Increased circulating IgG4 level, Increased circulating antibody level, Increased circulating IgE... |
ORPHA:449400 |
Bare Lymphocyte Syndrome, Type Ii |
|
Cutaneous anergy, Panhypogammaglobulinemia, Failure to thrive, Agammaglobulinemia |
OMIM:209920 |
Dysostosis, Stanescu Type |
|
Increased bone mineral density, Massively thickened long bone cortices |
ORPHA:1798 |
X-Linked Agammaglobulinemia |
|
Arthritis, Failure to thrive, Osteomyelitis, Agammaglobulinemia, Weight loss |
ORPHA:47 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Abnormal immunoglobulin level, Decreased circulating IgA level, Failure to thrive, Increased circ... |
ORPHA:276 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Bone marrow hypocellularity, Decreased circulating antibody level |
OMIM:615190 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Increased body mass index, Increased body weight |
OMIM:614450 |
Trichothiodystrophy |
|
Craniosynostosis, Increased bone mineral density, Osteopenia, Panhypogammaglobulinemia, Multiple ... |
ORPHA:33364 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Obesity |
OMIM:264120 |
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
|
Increased circulating IgE level, Joint hypermobility, Decreased circulating IgA level, Osteomyelitis |
OMIM:618282 |
Morgagni-Stewart-Morel Syndrome |
|
Hyperostosis frontalis interna, Osteoporosis, Osteoarthritis, Obesity |
ORPHA:77296 |
Senior-Loken Syndrome 9 |
|
Osteopenia, Obesity |
OMIM:616629 |
12Q14 Microdeletion Syndrome |
|
Osteopoikilosis, Failure to thrive |
ORPHA:94063 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Decreased circulating antibody level |
OMIM:618042 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Abnormality of humoral immunity, Failure to thrive, Panhypogammaglobulinemia, Decreased lymphocyt... |
ORPHA:572 |
Pseudohypoparathyroidism Type 1A |
|
Hyperostosis frontalis interna, Increased bone mineral density, Reduced bone mineral density, Abn... |
ORPHA:79443 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Diaphyseal sclerosis, Craniofacial osteosclerosis, Osteopetrosis, Increased skull ossification |
OMIM:618476 |
Angiostrongyliasis |
|
Increased circulating IgA level, Stiff neck, Increased circulating specific IgE antibody, Increas... |
ORPHA:74 |
Gaucher Disease |
|
Increased bone mineral density, Osteolysis, Joint stiffness, Increased circulating antibody level... |
ORPHA:355 |
Kenny-Caffey Syndrome, Type 2 |
|
Increased bone mineral density, Small for gestational age, Thickened cortex of long bones |
OMIM:127000 |
Pseudohypoparathyroidism Type 1B |
|
Diaphyseal sclerosis, Increased bone density with cystic changes, Increased bone mineral density |
ORPHA:94089 |
Simple Cryoglobulinemia |
|
Monoclonal elevation of circulating IgA, Monoclonal elevation of IgG, Monoclonal immunoglobulin M... |
ORPHA:91139 |
Otopalatodigital Syndrome Type 2 |
|
Increased bone mineral density, Camptodactyly of finger, Synostosis of carpal bones, Failure to t... |
ORPHA:90652 |
Immunodeficiency 36 With Lymphoproliferation |
|
Decreased circulating IgG level, Decreased circulating IgA level, Increased circulating IgM level |
OMIM:616005 |
Osteopetrosis, Autosomal Recessive 5 |
|
Increased bone mineral density, Cranial hyperostosis, Osteopetrosis, Decreased osteoclast count |
OMIM:259720 |
Wiskott-Aldrich Syndrome |
|
Increased circulating IgA level, Decreased circulating total IgM, Decreased specific anti-polysac... |
OMIM:301000 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Osteopetrosis |
OMIM:612840 |
Polycystic Ovary Syndrome 1 |
|
Obesity |
OMIM:184700 |
Immunodeficiency 56 |
|
Panhypogammaglobulinemia, Failure to thrive |
OMIM:615207 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased circulating IgA level, Increased circulating IgM level, Reduced delayed hypersensitivit... |
OMIM:603909 |
Pseudopseudohypoparathyroidism |
|
Ectopic ossification, Obesity |
ORPHA:79445 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Bone marrow hypocellularity, Decreased circulating antibody level |
OMIM:619767 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Osteopetrosis |
OMIM:618541 |
Lymphoproliferative Syndrome 2 |
|
Decreased circulating antibody level, Decreased lymphocyte proliferation in response to mitogen |
OMIM:615122 |
Congenital Disorder Of Glycosylation, Type Iib |
|
Decreased circulating antibody level, Decreased circulating IgA level, Recurrent fractures |
OMIM:606056 |
Schwartz-Jampel Syndrome |
|
Increased bone mineral density, Arthrogryposis multiplex congenita, Joint stiffness, Flexion cont... |
ORPHA:800 |
Hypothyroidism, Central, With Testicular Enlargement |
|
Overweight |
OMIM:300888 |
Pycnodysostosis |
|
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand |
OMIM:265800 |
Osteopetrosis, Autosomal Recessive 3 |
|
Diaphyseal sclerosis, Osteopetrosis, Cranial hyperostosis |
OMIM:259730 |
Thymoma |
|
Abnormal lymphocyte proliferation, Abnormal lymphocyte physiology, Rheumatoid arthritis, Decrease... |
ORPHA:99867 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Increased circulating IgA level, Failure to thrive in infancy, Increased circulating IgM level |
OMIM:617099 |
Schimke Immunoosseous Dysplasia |
|
Decreased circulating antibody level, Abnormal immunoglobulin level, Small for gestational age, O... |
OMIM:242900 |
Perrault Syndrome 4 |
|
Osteoporosis, Disproportionate tall stature, Obesity |
OMIM:615300 |
Alg12-Cdg |
|
Camptodactyly, Partial absence of specific antibody response to Haemophilus influenzae type b (Hi... |
ORPHA:79324 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Obesity, Reduced bone mineral density, Osteoporosis, Recurrent fractures |
ORPHA:2235 |
Erdheim-Chester Disease |
|
Increased bone mineral density, Osteolysis, Osteomyelitis, Weight loss |
ORPHA:35687 |
Boutonneuse Fever |
|
Increased circulating IgG level, Increased circulating IgM level |
ORPHA:83313 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Increased bone mineral density, Elbow ankylosis, Abnormal cortical bone morphology, Facial hypero... |
ORPHA:2658 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Increased body weight |
ORPHA:276608 |
Immunodeficiency 23 |
|
Increased circulating IgE level, Failure to thrive, Increased circulating IgG level, Increased ci... |
OMIM:615816 |
Pseudohypoparathyroidism Type 1C |
|
Increased bone mineral density, Ectopic ossification, Obesity |
ORPHA:79444 |
Smith-Kingsmore Syndrome |
|
Decreased circulating IgA level, Large for gestational age |
OMIM:616638 |
Mgat2-Cdg |
|
Osteopenia, Failure to thrive, Impaired platelet aggregation, Decreased circulating IgG level, De... |
ORPHA:79329 |
Zika Virus Disease |
|
Arthritis, Increased circulating IgM level |
ORPHA:448237 |
X-Linked Hypophosphatemia |
|
Rickets, Generalized osteosclerosis, Reduced bone mineral density, Craniosynostosis, Enthesitis, ... |
ORPHA:89936 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Coronal craniosynostosis, Decreased circulating total IgM, Contracture of the distal interphalang... |
ORPHA:83617 |
Obesity-Hypoventilation Syndrome |
|
Obesity |
OMIM:257500 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Reduced bone mineral density, Agammaglobulinemia |
ORPHA:935 |
Netherton Syndrome |
|
Increased circulating IgE level, Decreased circulating IgG level, Failure to thrive |
OMIM:256500 |
Hereditary Folate Malabsorption |
|
Decreased circulating antibody level, Failure to thrive |
ORPHA:90045 |
Adult Idiopathic Neutropenia |
|
Increased circulating IgM level |
ORPHA:2688 |
Desmosterolosis |
|
Generalized osteosclerosis, Arthrogryposis multiplex congenita, Joint contracture of the hand, Fa... |
OMIM:602398 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Bone marrow hypocellularity, Decreased circulating IgG level, Myelofibrosis |
OMIM:301078 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Decreased circulating antibody level |
OMIM:619750 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Increased circulating IgA level, Increased circulating IgG level, Failure to thrive |
OMIM:617388 |
Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Obesity |
OMIM:619755 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Osteoporosis, Decreased circulating IgA level, Osteopenia, Failure to thrive, Flexion contracture |
OMIM:613327 |
Celiac Disease, Susceptibility To, 1 |
|
Rickets, Osteoporosis, Decreased circulating IgA level, Failure to thrive, Weight loss |
OMIM:212750 |
Raine Syndrome |
|
Increased bone mineral density, Subperiosteal bone formation, Arthrogryposis multiplex congenita |
OMIM:259775 |
Vici Syndrome |
|
Decreased circulating IgG level, Joint stiffness, Decreased circulating IgG2 level |
ORPHA:1493 |
Thymic Tumor |
|
Dysgammaglobulinemia |
ORPHA:100100 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Decreased specific anti-polysaccharide antibody level, Increased circulating IgE level, Failure t... |
OMIM:606367 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Decreased circulating IgA level, Large for gestational age |
ORPHA:457485 |
Lymphoproliferative Syndrome 1 |
|
Decreased circulating antibody level, Decreased circulating IgG level |
OMIM:613011 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Increased circulating interferon-gamma concentration, Increased circulating interleukin 6 concent... |
ORPHA:542323 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Abnormality of tumor necrosis factor secretion, Increased circulating interferon-gamma concentrat... |
ORPHA:540 |
Rasmussen Subacute Encephalitis |
|
Decreased circulating total IgA |
ORPHA:1929 |
Griscelli Syndrome |
|
Bone marrow hypocellularity, Decreased circulating antibody level |
ORPHA:381 |
Bone Marrow Failure Syndrome 5 |
|
Decreased circulating antibody level |
OMIM:618165 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Large for gestational age, Hypophosphatemic rickets, Increased body weight |
ORPHA:263455 |
Wilson Disease |
|
Pathologic fracture, Arthritis, Failure to thrive, Increased body weight, Weight loss |
ORPHA:905 |
Netherton Syndrome |
|
Increased circulating IgE level, Decreased circulating antibody level |
ORPHA:634 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Increased circulating IgA level, Increased circulating IgG level, Joint stiffness, Failure to thrive |
OMIM:615934 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Osteopetrosis |
ORPHA:3240 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Increased circulating IgE level, Panhypogammaglobulinemia, Failure to thrive |
OMIM:602450 |
Congenital Analbuminemia |
|
Small for gestational age, Increased circulating antibody level, Obesity |
ORPHA:86816 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Delayed ossification of carpal bones, Decreased circulating antibody level |
OMIM:617425 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Patchy osteosclerosis |
OMIM:241410 |
Okur-Chung Neurodevelopmental Syndrome |
|
Decreased circulating IgA level, Failure to thrive, Decreased circulating IgG level, Joint hyperm... |
OMIM:617062 |
Hyperoxaluria, Primary, Type I |
|
Increased bone mineral density, Pathologic fracture |
OMIM:259900 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
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Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Dec... |
OMIM:618986 |
Atypical Werner Syndrome |
|
Increased bone mineral density, Reduced bone mineral density, Sclerosis of hand bone, Progressive... |
ORPHA:79474 |
Wolfram Syndrome 2 |
|
Impaired collagen-induced platelet aggregation, Decreased circulating antibody level |
OMIM:604928 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Decreased specific anti-polysaccharide antibody level, Impaired T cell function, Failure to thrive |
OMIM:614576 |
Blomstrand Lethal Chondrodysplasia |
|
Increased bone mineral density, Synostosis of joints |
ORPHA:50945 |
Tempi Syndrome |
|
Increased circulating IgG level |
ORPHA:284227 |
Immunodeficiency 58 |
|
Decreased circulating antibody level, Failure to thrive, Decreased specific antibody response to ... |
OMIM:618131 |
Aromatase Deficiency |
|
Eunuchoid habitus, Osteoporosis, Osteopenia, Delayed epiphyseal ossification, Tall stature, Obesity |
ORPHA:91 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Limited elbow extension, Camptodactyly, Failure to thrive in infancy, Decreased circulating IgA l... |
OMIM:613385 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Decreased circulating IgA level, Osteopenia, Failure to thrive, Decreased circulating IgG level, ... |
OMIM:212065 |
Primary Biliary Cholangitis |
|
Increased circulating IgA level, Osteoporosis, Increased circulating IgM level |
ORPHA:186 |
Mohr-Tranebjaerg Syndrome |
|
Agammaglobulinemia |
ORPHA:52368 |
Say-Barber-Miller Syndrome |
|
Craniosynostosis, Knee flexion contracture, Impaired neutrophil chemotaxis, Decreased circulating... |
ORPHA:3132 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Rickets, Large for gestational age |
OMIM:616026 |
Sclerosteosis 1 |
|
Facial palsy secondary to cranial hyperostosis, Overgrowth, Sclerotic scapulae, Cortically dense ... |
OMIM:269500 |
Sanjad-Sakati Syndrome |
|
Patchy osteosclerosis |
ORPHA:2323 |
Icf Syndrome |
|
Decreased circulating antibody level |
ORPHA:2268 |
Smith-Magenis Syndrome |
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Increased body weight |
OMIM:182290 |
Blue Diaper Syndrome |
|
Increased body weight |
ORPHA:94086 |
Primary Hyperoxaluria |
|
Generalized osteosclerosis, Failure to thrive, Recurrent fractures |
ORPHA:416 |
Insulin-Resistance Syndrome Type B |
|
Increased circulating IgA level, Osteoarthritis, Increased circulating IgG level, Abnormality of ... |
ORPHA:2298 |
Cleidocranial Dysplasia 1 |
|
Increased bone mineral density, Increased susceptibility to fractures, Delayed pubic bone ossific... |
OMIM:119600 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Decreased circulating antibody level |
OMIM:615952 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Increased body weight |
OMIM:300860 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Increased circulating IgE level, Failure to thrive, Increased circulating IgG level, Defective T ... |
OMIM:618213 |
Autoimmune Hepatitis |
|
Increased circulating IgG level, Arthritis, Increased circulating antibody level |
ORPHA:2137 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Osteoporosis, Abdominal obesity, Increased susceptibility to fractures, Increased body weight |
ORPHA:189427 |
Lassa Fever |
|
Increased circulating IgM level |
ORPHA:99824 |
Distal Deletion 19P |
|
Decreased circulating antibody level, Joint hyperflexibility |
ORPHA:96129 |
Mucopolysaccharidosis-Plus Syndrome |
|
Flexion contracture, Bone marrow hypocellularity, Increased circulating IgM level |
OMIM:617303 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Decreased circulating antibody level, Agammaglobulinemia |
OMIM:243150 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Decreased circulating antibody level |
OMIM:226300 |
Cartilage-Hair Hypoplasia |
|
Limited elbow extension, Failure to thrive, Joint hyperflexibility, Abnormally ossified vertebrae... |
ORPHA:175 |
Immunodeficiency 59 And Hypoglycemia |
|
Decreased circulating antibody level, Complete or near-complete absence of specific antibody resp... |
OMIM:233600 |
Pgm3-Cdg |
|
Increased circulating IgA level, Increased circulating IgE level, Bone marrow hypocellularity, Fa... |
ORPHA:443811 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Osteoporosis, Osteopenia, Failure to thrive, Increased body weight, Flexion contracture, Abdomina... |
ORPHA:398069 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Failure to thrive in infancy, Abnormal circulating interferon-gamma concentration, Panhypogammagl... |
ORPHA:79124 |
Liver Failure, Infantile, Transient |
|
Decreased circulating IgG level |
OMIM:613070 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Craniosynostosis, Decreased circulating antibody level, Failure to thrive |
ORPHA:79396 |
Ataxia-Telangiectasia |
|
Decreased circulating IgG2 level, Decreased circulating IgA level, Defective B cell differentiati... |
OMIM:208900 |
Trichothiodystrophy 1, Photosensitive |
|
Flexion contracture, Small for gestational age, Decreased circulating IgG level |
OMIM:601675 |
Obsolete: Primary Pigmented Nodular Adrenocortical Disease |
|
Osteoporosis, Abdominal obesity, Increased susceptibility to fractures, Increased body weight |
ORPHA:189439 |
Monosomy 18Q |
|
Joint hypermobility, Decreased circulating IgA level, Slender build, Failure to thrive |
ORPHA:1600 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Limited elbow extension, Laryngotracheomalacia, Delayed ossification of carpal bones, Osteopenia,... |
OMIM:271510 |
Sotos Syndrome |
|
Overgrowth, Joint laxity, Tall stature, Increased body weight |
OMIM:117550 |
Autoimmune Polyendocrinopathy Type 4 |
|
Decreased circulating antibody level, Osteopenia, Rheumatoid arthritis |
ORPHA:227990 |
Lysinuric Protein Intolerance |
|
Increased circulating antibody level, Pathologic fracture, Abnormality of humoral immunity, Osteo... |
ORPHA:470 |
Autoimmune Polyendocrinopathy Type 3 |
|
Decreased circulating antibody level, Osteopenia, Rheumatoid arthritis |
ORPHA:227982 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Osteoporosis, Failure to thrive, Increased body weight |
ORPHA:264580 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Increased body weight |
ORPHA:64745 |
Williams Syndrome |
|
Increased bone mineral density, Joint stiffness, Osteoporosis, Failure to thrive in infancy, Syno... |
ORPHA:904 |
Insulinoma |
|
Increased body weight |
ORPHA:97279 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Osteoporosis, Increased body weight |
ORPHA:79240 |
Igg4-Related Submandibular Gland Disease |
|
Increased circulating IgG4 level, Increased circulating antibody level, Increased circulating IgE... |
ORPHA:449432 |
Mannosidosis, Alpha B, Lysosomal |
|
Decreased circulating antibody level |
OMIM:248500 |
Japanese Encephalitis |
|
Stiff neck, Elbow flexion contracture, Increased circulating antibody level, Increased circulatin... |
ORPHA:79139 |
Brucellosis |
|
Knee osteoarthritis, Small for gestational age, Arthritis, Increased circulating IgM level, Incre... |
ORPHA:1304 |
Osteopetrosis With Renal Tubular Acidosis |
|
Bone marrow hypocellularity, Osteopetrosis, Failure to thrive, Recurrent fractures |
ORPHA:2785 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Septic arthritis, Panhypogammaglobulinemia |
OMIM:307200 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Joint stiffness, Bone marrow hypocellularity, Increased circulating IgM level, Decreased circulat... |
ORPHA:505248 |
Cowden Syndrome 1 |
|
Decreased circulating antibody level |
OMIM:158350 |
Common Variable Immunodeficiency |
|
Failure to thrive in infancy, Decreased circulating antibody level |
ORPHA:1572 |
Good Syndrome |
|
Decreased circulating antibody level |
ORPHA:169105 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Decreased circulating antibody level |
OMIM:616084 |
Tick-Borne Encephalitis |
|
Increased circulating IgG level, Abnormality of serum cytokine level, Stiff neck, Increased circu... |
ORPHA:297 |
Autosomal Recessive Malignant Osteopetrosis |
|
Craniosynostosis, Reduced bone mineral density, Osteopetrosis, Recurrent fractures |
ORPHA:667 |
Coccidioidomycosis |
|
Osteolysis, Arthritis, Increased circulating IgM level, Increased circulating IgG level, Osteomye... |
ORPHA:228123 |
Vici Syndrome |
|
Decreased circulating IgG2 level, Cutaneous anergy, Failure to thrive, Decreased circulating IgG ... |
OMIM:242840 |
Trichohepatoenteric Syndrome 1 |
|
Decreased circulating antibody level, Small for gestational age, Failure to thrive |
OMIM:222470 |
Rift Valley Fever |
|
Increased circulating IgG level, Increased circulating IgM level |
ORPHA:319251 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased circulating antibody level, Failure to thrive |
ORPHA:293978 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Increased circulating IgG level, Increased circulating IgM level |
ORPHA:562639 |
Primary Sclerosing Cholangitis |
|
Osteoporosis, Polyclonal elevation of IgM, Osteopenia, Weight loss |
ORPHA:171 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Increased density of long bones, Thickened cortex of long bones, Sclerosis of skull base, Failure... |
OMIM:269150 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Increased circulating IgA level, Increased circulating IgG4 level, Weight loss, Increased circula... |
ORPHA:79078 |
Faciocardiomelic Syndrome |
|
Thin bony cortex, Large for gestational age, Osteopenia |
OMIM:612731 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Increased circulating interferon-gamma concentration, Increased circulating IgA level, Camptodact... |
OMIM:256040 |
Hennekam Syndrome |
|
Craniosynostosis, Decreased circulating antibody level, Camptodactyly of finger |
ORPHA:2136 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Bone marrow hypocellularity, Decreased circulating antibody level, Arthritis |
OMIM:615688 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Decreased circulating antibody level |
OMIM:618183 |
Adrenocortical Carcinoma |
|
Weight loss, Increased body weight |
ORPHA:1501 |
Sponastrime Dysplasia |
|
Limited elbow extension, Small for gestational age, Generalized joint laxity, Delayed epiphyseal ... |
ORPHA:93357 |
Primary Sjögren Syndrome |
|
Cryoglobulinemia, Increased circulating antibody level, Arthritis, Decreased circulating compleme... |
ORPHA:289390 |
Dubowitz Syndrome |
|
Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:223370 |
Leukocyte Adhesion Deficiency Type Ii |
|
Abnormal isohemagglutinin level, Small for gestational age, Failure to thrive |
ORPHA:99843 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Failure to thrive in infancy, Decreased circulating antibody level |
ORPHA:247598 |
Thrombocytopenia-Absent Radius Syndrome |
|
Fused cervical vertebrae, Carpal synostosis, Decreased circulating antibody level |
OMIM:274000 |
Syndromic Diarrhea |
|
Small for gestational age, Panhypogammaglobulinemia |
ORPHA:84064 |
Whim Syndrome |
|
Decreased circulating antibody level |
ORPHA:51636 |
Igg4-Related Kidney Disease |
|
Increased circulating IgG4 level, Increased circulating IgG1 level, Increased circulating IgE lev... |
ORPHA:449395 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Decreased circulating IgG level, Failure to thrive |
OMIM:618278 |
Cushing Disease |
|
Osteoporosis, Increased body weight, Abdominal obesity, Truncal obesity |
ORPHA:96253 |
Nijmegen Breakage Syndrome |
|
Dysgammaglobulinemia |
OMIM:251260 |
Crimean-Congo Hemorrhagic Fever |
|
Increased circulating IgG level, Stiff neck, Increased circulating IgM level |
ORPHA:99827 |
Hellp Syndrome |
|
Increased body weight |
ORPHA:244242 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Secretory IgA deficiency, Hyperextensible hand joints, Hyperextensibility at elbow, Failure to th... |
ORPHA:500150 |
Viss Syndrome |
|
Generalized joint laxity, Increased circulating IgE level, Decreased circulating IgA level, Failu... |
OMIM:619472 |
Yellow Fever |
|
Increased circulating interleukin 6 concentration, Increased circulating IgM level |
ORPHA:99829 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Osteoporosis, Truncal obesity, Increased body weight, Abdominal obesity, Weight loss |
ORPHA:99889 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Increased circulating IgG level, Increased circulating antibody level, Weight loss |
ORPHA:91500 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Camptodactyly, Right unicoronal synostosis, Failure to thrive, Flexion contracture, Decreased cir... |
ORPHA:261537 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Camptodactyly, Right unicoronal synostosis, Failure to thrive, Flexion contracture, Decreased cir... |
ORPHA:261552 |
Mowat-Wilson Syndrome |
|
Camptodactyly, Recurrent fractures, Flexion contracture, Decreased circulating antibody level, De... |
ORPHA:2152 |
Carney Complex |
|
Tall stature, Abdominal obesity, Increased body weight |
ORPHA:1359 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Decreased skull ossification |
OMIM:300863 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
|
ORPHA:163966 |