Granulomatous disease with defect in neutrophil chemotaxis |
|
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci |
OMIM:233670 |
Immunodeficiency 30 |
|
Recurrent infections, Recurrent mycobacterial infections |
OMIM:614891 |
Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
Ciliary Discoordination Due To Random Ciliary Orientation |
|
Recurrent infections |
OMIM:215518 |
Complement Component 7 Deficiency |
|
Recurrent meningococcal disease, Recurrent Neisserial infections |
OMIM:610102 |
Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
Specific Granule Deficiency 1 |
|
Recurrent otitis media, Abnormal neutrophil count, Hyposegmentation of neutrophil nuclei, Recurre... |
OMIM:245480 |
Immunodeficiency 86 |
|
Decreased circulating IgG level, Increased circulating IgM level, Impaired oxidative burst |
OMIM:619549 |
Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent viral infections, Recurrent protozoan infections, Recurrent bacterial infections |
OMIM:308220 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Decreased circulating IgG level, Recurrent candida infections, Recurrent bacterial infections, T ... |
OMIM:242870 |
Buschke-Ollendorff Syndrome |
|
Joint stiffness, Flexion contracture, Connective tissue nevi, Osteopoikilosis |
OMIM:166700 |
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density, Pedal edema |
ORPHA:75325 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent staphylococcal infections, Recurrent streptococcus pneumoniae infections, Recurrent bac... |
ORPHA:70592 |
Myelolymphatic Insufficiency |
|
Recurrent viral infections, Leukopenia, Recurrent bacterial infections, Hyposegmentation of neutr... |
OMIM:310350 |
Melorheostosis With Osteopoikilosis |
|
Multiple lipomas, Abnormal cortical bone morphology, Osteopoikilosis |
ORPHA:1879 |
Immunodeficiency 35 |
|
Increased circulating IgE level, Recurrent viral infections, Recurrent mycobacterial infections, ... |
OMIM:611521 |
Immunodeficiency, Common Variable, 5 |
|
Chronic decreased circulating total IgG, Abnormal T cell count, Abnormal B cell count, Recurrent ... |
OMIM:613495 |
Melorheostosis |
|
Increased bone mineral density, Hyperostosis, Arthritis, Lymphedema, Ectopic ossification in musc... |
ORPHA:2485 |
Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
Osteosclerotic Metaphyseal Dysplasia |
|
Increased bone mineral density, Failure to thrive, Clavicular sclerosis |
OMIM:615198 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
Dentin Dysplasia |
|
Increased bone mineral density, Abnormal dental enamel morphology |
ORPHA:1653 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Recurrent Klebsiella infections, Recurrent candida infections, BCGosis, Salmonella osteomyelitis,... |
ORPHA:319552 |
Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Increased bone mineral density, Ectopic ossification |
OMIM:602475 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Impaired Ig class switch recombination, Complete or near-complete absence of specific antibody re... |
OMIM:605258 |
Immunodeficiency, Common Variable, 4 |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:613494 |
Immunodeficiency 31B |
|
Recurrent viral infections, Recurrent mycobacterial infections |
OMIM:613796 |
Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
Osteochondrosis Of The Metatarsal Bone |
|
Arthritis, Joint stiffness, Sclerosis of foot bone, Thickened cortex of bones, Pedal edema |
ORPHA:564003 |
Mueller-Weiss Syndrome |
|
Knee osteoarthritis, Arthritis, Limitation of movement at ankles, Joint stiffness, Sclerosis of f... |
ORPHA:566943 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Polyhydramnios, Hydrops fetalis, Abnormal cortical bone morphology, Increased bone mineral densit... |
ORPHA:2204 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgG leve... |
OMIM:606843 |
Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
Isolated Osteopoikilosis |
|
Sclerotic foci in hand bones, Abnormal bone ossification, Sclerotic foci within carpal bones, Tar... |
ORPHA:166119 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Recurrent otitis media, Absent isohemagglutinin level, Recurrent lowe... |
OMIM:613501 |
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Recurrent otitis media, Increased circulating interleukin 6 concentration, Increased circulating ... |
OMIM:618944 |
Immunodeficiency 61 |
|
Recurrent otitis media, Recurrent bacterial infections, Decreased circulating IgG4 level, Recurre... |
OMIM:300310 |
Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone morphology |
ORPHA:3416 |
Immunodeficiency 81 |
|
Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Recurrent inf... |
OMIM:619374 |
Immunodeficiency 32B |
|
Anemia, Recurrent infections, Abnormal circulating IgG level, Eosinophilia, Neutrophilia, Thrombo... |
OMIM:226990 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Abnormal T cell morphology, Recurrent otitis media, Recurrent respiratory infections, Recurrent p... |
OMIM:613500 |
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis |
ORPHA:280794 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Abnormal T cell morphology, Recurrent otitis media, Decreased circulating IgG level, Recurrent pn... |
OMIM:613502 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Anemia, Increased circulating antibody level, Thrombocytosis, Congenital agranulocytosis, Acute m... |
OMIM:202700 |
Immunodeficiency, Common Variable, 3 |
|
Recurrent otitis media, Decreased proportion of class-switched memory B cells, Chronic decreased ... |
OMIM:613493 |
Endosteal Hyperostosis, Worth Type |
|
Generalized osteosclerosis, Clavicular sclerosis, Abnormal cortical bone morphology, Craniofacial... |
ORPHA:2790 |
Flynn-Aird Syndrome |
|
Increased bone mineral density, Joint stiffness, Osteoporosis, Increased bone density with cystic... |
OMIM:136300 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Reduction of neutrophil motility, Neutrophilia, Bronchiolitis, Recurrent otitis media |
OMIM:266265 |
Van Buchem Disease |
|
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones |
OMIM:239100 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Decreased circulating IgG level, Increased circulating Ig... |
OMIM:608106 |
Acute Lung Injury |
|
Abnormal circulating cytokine concentration, Sepsis, Increased circulating interleukin 6 concentr... |
ORPHA:178320 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Increased bone mineral density, Craniosynostosis |
ORPHA:178377 |
Sclerosteosis |
|
Increased bone mineral density, Abnormal cortical bone morphology, Craniofacial hyperostosis |
ORPHA:3152 |
Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Macrocytic anemia, Rectal abscess, Reduction of neutrophil motility, Leukocytosis, Neutrophilia, ... |
OMIM:608203 |
Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration |
OMIM:109130 |
Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Edema, Pulmonary edema |
OMIM:178400 |
Adult Acute Respiratory Distress Syndrome |
|
Pulmonary edema, Increased circulating interleukin 6 concentration, Abnormal circulating interleu... |
ORPHA:70578 |
Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density, Obesity |
OMIM:618406 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Rickets, Craniosynostosis, Hypophosphatemic rickets, Increased bone mineral density |
OMIM:241520 |
Osteopetrosis, Autosomal Dominant 1 |
|
Osteopetrosis, Calvarial osteosclerosis, Thickened cortex of long bones, Generalized osteoscleros... |
OMIM:607634 |
Respiratory Distress Syndrome In Premature Infants |
|
Edema, Pulmonary edema, Atelectasis |
OMIM:267450 |
Immunodeficiency 116 |
|
Recurrent viral infections, Recurrent bacterial infections, Recurrent respiratory infections |
OMIM:608957 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent Klebsiella infections, Recurrent E. coli infections, Liver abscess, Recurrent Staphyloc... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent Klebsiella infections, Recurrent E. coli infections, Liver abscess, Recurrent Staphyloc... |
OMIM:233710 |
Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
Lymphatic Malformation 7 |
|
Pulmonary edema, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increased nuchal translucenc... |
OMIM:617300 |
Osteosclerosis With Ichthyosis And Fractures |
|
Increased bone mineral density, Recurrent fractures, Cortical thickening of long bone diaphyses |
OMIM:166740 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent Klebsiella infections, Recurrent E. coli infections, Liver abscess, Recurrent Staphyloc... |
OMIM:233690 |
Dentin Dysplasia With Sclerotic Bones |
|
Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis |
OMIM:125440 |
Immunodeficiency, Common Variable, 13 |
|
Pancytopenia, B lymphocytopenia, Decreased circulating antibody level, Acute lymphoblastic leukem... |
OMIM:616873 |
Osteopetrosis, Autosomal Dominant 2 |
|
Osteopetrosis, Hip osteoarthritis, Recurrent fractures, Fractures of the long bones, Generalized ... |
OMIM:166600 |
Intermediate Osteopetrosis |
|
Abnormality of bone mineral density, Recurrent fractures, Cortical sclerosis, Generalized osteosc... |
ORPHA:210110 |
Lethal Recessive Chondrodysplasia |
|
Generalized osteosclerosis, Polyhydramnios, Edema |
ORPHA:1423 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Abnormal circulating cytokine concentration, Pulmonary edema, Increased circulating interleukin 6... |
ORPHA:542323 |
Immunodeficiency 108 With Autoinflammation |
|
Recurrent abscess formation, Impaired neutrophil chemotaxis, Hyposegmentation of neutrophil nuclei |
OMIM:260570 |
Immunodeficiency 112 |
|
Recurrent lower respiratory tract infections, Decreased proportion of gamma-delta T cells, Decrea... |
OMIM:620449 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Abnormal T cell morphology, Recurrent otitis media, B lymphocytopenia, Recurrent bronchitis, Decr... |
OMIM:612692 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Sepsis, Recurrent otitis media, Recurrent lower respiratory tract infections, Partial absence of ... |
OMIM:618986 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial osteosclerosis, Cortical sclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis |
OMIM:122860 |
Osteopetrosis, Autosomal Recessive 9 |
|
Increased bone mineral density, Osteopetrosis, Cortical sclerosis, Pathologic fracture |
OMIM:620366 |
Schnitzler Syndrome |
|
Increased bone mineral density, Arthritis, Increased circulating IgM level |
ORPHA:37748 |
Vulvovaginal Gingival Syndrome |
|
Abnormality of tumor necrosis factor secretion |
ORPHA:83453 |
Cirrhotic Cardiomyopathy |
|
Abnormal circulating B-type natriuretic peptide concentration, Pulmonary edema, Peripheral edema,... |
ORPHA:57777 |
Chondrodysplasia, Blomstrand Type |
|
Polyhydramnios, Hydrops fetalis, Advanced tarsal ossification, Generalized osteosclerosis, Fetal ... |
OMIM:215045 |
Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Pulmonary edema, Respiratory tract infection, Atelectasis |
ORPHA:70587 |
Macrophage Activation Syndrome |
|
Hypertriglyceridemia, Increased circulating interleukin 6 concentration, Elevated circulating C-r... |
ORPHA:158061 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Perianal abscess, Recurrent tonsillitis, Recurrent infections, Onychomycosis, Granuloma, Recurren... |
OMIM:618935 |
Wild Type Attr Amyloidosis |
|
Pulmonary edema, Abnormal pulmonary interstitial morphology, Pleural effusion, Weight loss, Pedal... |
ORPHA:330001 |
Pulmonary Capillary Hemangiomatosis |
|
Pulmonary edema, Pulmonary capillary hemangiomatosis, Hemothorax, Abnormal pulmonary vein morphol... |
ORPHA:199241 |
Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 23 concentration, Reduced circulating interleukin 22 concentratio... |
OMIM:619632 |
Granulomatous Disease, Chronic, X-Linked |
|
Recurrent Klebsiella infections, Recurrent E. coli infections, Liver abscess, Recurrent Staphyloc... |
OMIM:306400 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Recurrent bacterial infections, Neutropenia |
ORPHA:86788 |
Adult Idiopathic Neutropenia |
|
Recurrent infections, Increased circulating IgM level, Helicobacter pylori infection, Lymphopenia... |
ORPHA:2688 |
Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis |
OMIM:611497 |
Systemic Capillary Leak Syndrome |
|
Pulmonary edema, Pedal edema, Pleural effusion, Weight loss |
ORPHA:188 |
Necrobiosis Lipoidica |
|
Granuloma, Abnormality of neutrophil physiology |
ORPHA:542592 |
Osteopetrosis, Autosomal Recessive 4 |
|
Increased bone mineral density, Osteopetrosis, Recurrent fractures |
OMIM:611490 |
Mogs-Cdg |
|
Pulmonary edema, Polyhydramnios, Decreased circulating antibody level, Generalized edema, Decreas... |
ORPHA:79330 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Clavicular sclerosis, Metacarpal diaphyseal endosteal sclerosis, Hyperostosis, Metatarsal diaphys... |
OMIM:144750 |
Aicardi-Goutieres Syndrome 6 |
|
Increased circulating Interferon-alpha concentration, Chilblains |
OMIM:615010 |
Majeed Syndrome |
|
Increased bone mineral density, Cachexia, Synovitis, Failure to thrive, Flexion contracture, Weig... |
ORPHA:77297 |
Preeclampsia |
|
Pulmonary edema, Small for gestational age |
ORPHA:275555 |
Sweet Syndrome |
|
Increased circulating interleukin 6 concentration, Panniculitis, Elevated circulating C-reactive ... |
ORPHA:3243 |
Osteogenesis Imperfecta, Type Xiii |
|
Reduced bone mineral density, Limitation of knee mobility, Increased bone mineral density, Decrea... |
OMIM:614856 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Abnormal circulating cytokine concentration, Hypertriglyceridemia, Increased circulating interleu... |
ORPHA:540 |
Osteopetrosis, Autosomal Recessive 1 |
|
Femur fracture, Osteopetrosis, Calvarial osteosclerosis, Increased bone mineral density, Failure ... |
OMIM:259700 |
Chediak-Higashi Syndrome |
|
Anemia, Hemophagocytosis, Recurrent infections, Recurrent systemic pyogenic infections, Recurrent... |
OMIM:214500 |
High Altitude Pulmonary Edema |
|
Pulmonary edema |
ORPHA:330012 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Nonspherocytic hemolytic anemia, Impaired neutrophil bactericidal activity, Splenomegaly, Spontan... |
OMIM:613470 |
Ovarian Hyperstimulation Syndrome |
|
Pulmonary edema, Pleural effusion, Ascites, Generalized edema, Peripheral edema |
ORPHA:64739 |
Indolent Systemic Mastocytosis |
|
Splenomegaly, Abnormal mast cell morphology, Increased proportion of CD25+ mast cells, Mastocytosis |
ORPHA:98848 |
Ghosal Hematodiaphyseal Dysplasia |
|
Increased bone mineral density, Hyperostosis cranialis interna, Myelofibrosis |
OMIM:231095 |
Immunodeficiency 67 |
|
Liver abscess, Abnormal natural killer cell count, Increased circulating IgE level, Complete or n... |
OMIM:607676 |
Familial Isolated Restrictive Cardiomyopathy |
|
Peripheral edema, Pulmonary edema, Recurrent respiratory infections |
ORPHA:75249 |
Dysosteosclerosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Abnormal dental enamel morphology, Coa... |
ORPHA:1782 |
Diastrophic Dysplasia |
|
Increased bone mineral density, Joint stiffness, Camptodactyly of finger, Joint hypermobility, Re... |
ORPHA:628 |
Paget Disease Of Bone 3 |
|
Fractures of the long bones, Osteolysis, Patchy osteosclerosis |
OMIM:167250 |
Spondyloepiphyseal Dysplasia Tarda |
|
Localized osteoporosis, Limited elbow movement, Stiff knee, Hip osteoarthritis, Increased bone mi... |
ORPHA:93284 |
Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Abnormal vertebral segmentation and fusion, Limitation of joint m... |
ORPHA:90650 |
Japanese Encephalitis |
|
Pulmonary edema, Stiff neck, Increased circulating antibody level, Elbow flexion contracture, Inc... |
ORPHA:79139 |
Trichothiodystrophy 6, Nonphotosensitive |
|
Increased bone mineral density, Small for gestational age, Coronal craniosynostosis |
OMIM:616943 |
Poems Syndrome |
|
Increased circulating antibody level, Pleural effusion, Sclerosis of hand bone, Ascites, Pericard... |
ORPHA:2905 |
Chédiak-Higashi Syndrome |
|
Anemia, Hemophagocytosis, Increased proportion of CD25+ mast cells, Pancytopenia, Abnormal natura... |
ORPHA:167 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Increased bone mineral density, Osteopetrosis, Decreased body weight |
OMIM:617306 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Pulmonary edema |
OMIM:105210 |
Albers-Schönberg Osteopetrosis |
|
Arthritis, Recurrent fractures, Osteoarthritis, Generalized osteosclerosis, Mandibular osteomyeli... |
ORPHA:53 |
Mastocytosis, Cutaneous |
|
Cutaneous mastocytosis |
OMIM:154800 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Increased bone mineral density, Osteoporosis, Failure to thrive, Ankylosis, Macular s... |
OMIM:239000 |
Osteopetrosis, Autosomal Recessive 2 |
|
Cranial hyperostosis, Osteopetrosis, Diaphyseal sclerosis, Recurrent fractures, Decreased osteocl... |
OMIM:259710 |
Osteopetrosis, Autosomal Recessive 8 |
|
Failure to thrive, Osteopetrosis |
OMIM:615085 |
Werner Syndrome |
|
Lipoatrophy, Increased bone mineral density, Neoplasm of the lung, Osteoporosis, Pulmonary artery... |
ORPHA:902 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Pericardial effusion, Ascites, Pulmonary edema |
OMIM:115197 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Increased bone mineral density, Abnormal bone ossification, Delayed patellar ossification |
ORPHA:163649 |
Tricho-Dento-Osseous Syndrome |
|
Increased bone mineral density, Dental enamel pits, Enamel hypomineralization |
ORPHA:3352 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Abnormal circulating interferon-gamma concentration, Recurrent abscess formation, Panhypogammaglo... |
ORPHA:79124 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent otitis media, Panhypogammaglobulinemia, Recurrent respiratory infections, Recurrent bac... |
OMIM:601495 |
Mast Cell Sarcoma |
|
Splenomegaly, Mastocytosis |
ORPHA:66661 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Increased bone mineral density, Coarse metaphyseal trabecularization, Sclerosis of mi... |
ORPHA:85188 |
Aicardi-Goutieres Syndrome 5 |
|
Increased circulating interferon-gamma concentration, Chilblains |
OMIM:612952 |
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
|
Symmetric polyarthritis, Elevated circulating C-reactive protein concentration, Arthritis, Synovi... |
ORPHA:85435 |
Craniometaphyseal Dysplasia |
|
Osteopetrosis, Craniofacial hyperostosis |
ORPHA:1522 |
Hellp Syndrome |
|
Generalized edema, Pulmonary edema, Increased body weight, Pleural effusion |
ORPHA:244242 |
Oligoarticular Juvenile Idiopathic Arthritis |
|
Increased circulating interferon-gamma concentration, Arthritis, Knee osteoarthritis, Uveitis, Rh... |
ORPHA:85410 |
Pseudohypoparathyroidism Type 1B |
|
Increased bone mineral density, Enamel hypoplasia, Increased bone density with cystic changes, Di... |
ORPHA:94089 |
Gaucher Disease Type 3 |
|
Abnormal pulmonary interstitial morphology, Hydrops fetalis, Increased circulating antibody level... |
ORPHA:77261 |
Camurati-Engelmann Disease |
|
Diaphyseal sclerosis, Increased bone mineral density, Cortical thickening of long bone diaphyses,... |
OMIM:131300 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Pulmonary edema, Pleural effusion, Ascites, Pericardial effusion, Peripheral edema, Anasarca |
OMIM:261740 |
Immune Dysregulation, Autoimmunity, And Autoinflammation |
|
Increased circulating interleukin 6 concentration, Increased circulating interleukin 8 concentration |
OMIM:620514 |
Tako-Tsubo Cardiomyopathy |
|
Mildly elevated creatine kinase, Pulmonary edema, Obesity, Abnormal circulating B-type natriureti... |
ORPHA:66529 |
Beemer-Ertbruggen Syndrome |
|
Increased bone mineral density |
ORPHA:1237 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Diaphyseal cortical sclerosis, Osteopenia, Fractures of the long bones, Patchy osteosclerosis, Os... |
OMIM:112250 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Increased bone mineral density, Thin bony cortex, Osteopenia |
ORPHA:85184 |
Hemorrhagic Fever-Renal Syndrome |
|
Pulmonary edema, Increased circulating interleukin 6 concentration, Decreased body weight, Pleura... |
ORPHA:340 |
Cocaine Intoxication |
|
Pneumothorax, Diffuse alveolar hemorrhage, Elevated circulating creatine kinase concentration, Pu... |
ORPHA:90068 |
Pycnodysostosis |
|
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand, Coronal c... |
ORPHA:763 |
Erdheim-Chester Disease |
|
Abnormal pulmonary interstitial morphology, Increased bone mineral density, Pleural effusion, Ost... |
ORPHA:35687 |
Aggressive Systemic Mastocytosis |
|
Anemia, Increased proportion of CD25+ mast cells, Pancytopenia, Leukocytosis, Hepatosplenomegaly,... |
ORPHA:98850 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Increased bone mineral density, Osteopetrosis, Coarse metaphyseal trabecularization, Facial hyper... |
ORPHA:2780 |
Ogden Syndrome |
|
Pulmonary edema, Inguinal hernia, Lymphedema, Pulmonary artery stenosis, Minimal subcutaneous fat... |
OMIM:300855 |
Osteopetrosis, Autosomal Recessive 7 |
|
Femur fracture, Osteopetrosis, Decreased circulating IgG level, Abnormal trabecular bone morpholo... |
OMIM:612301 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Osteopetrosis, Polyhydramnios |
OMIM:618541 |
Ethylene Glycol Poisoning |
|
Pulmonary edema, Cerebral edema |
ORPHA:31826 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Iritis, Malar rash, Skin rash, Oligoarthritis, Sacroiliac arthritis, Enthesitis, Iridocyclitis, A... |
ORPHA:85436 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Recurrent pneumonia, Bronchiectasis, Reduced circulating interferon gamma concentration, Increase... |
OMIM:301220 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Pseudo-fractures, Hypophosphatemic rickets, Rickets of the lower limbs, Increased bone mineral de... |
ORPHA:289176 |
Gaucher Disease |
|
Osteopenia, Abnormal pulmonary interstitial morphology, Hydrops fetalis, Increased circulating an... |
ORPHA:355 |
Scorpion Envenomation |
|
Edema, Pulmonary edema, Increased circulating creatine kinase MB isoform, Increased circulating N... |
ORPHA:466677 |
Desmosterolosis |
|
Increased bone mineral density, Failure to thrive, Osteopetrosis, Anomalous pulmonary venous return |
ORPHA:35107 |
Autoimmune Hypoparathyroidism |
|
Increased bone mineral density |
ORPHA:36913 |
Focal Facial Dermal Dysplasia Type Iv |
|
Abnormal mast cell morphology |
ORPHA:398189 |
Dysosteosclerosis |
|
Osteopenia, Clavicular sclerosis, Sclerosis of hand bone, Sclerosis of skull base, Sclerotic scap... |
OMIM:224300 |
Dysostosis, Stanescu Type |
|
Increased bone mineral density, Abnormal dental enamel morphology, Massively thickened long bone ... |
ORPHA:1798 |
Trichothiodystrophy |
|
Osteopenia, Panhypogammaglobulinemia, Increased bone mineral density, Recurrent bronchopulmonary ... |
ORPHA:33364 |
Interstitial Cystitis |
|
Elevated circulating C-reactive protein concentration, Abnormality of tumor necrosis factor secre... |
ORPHA:37202 |
Absence Of The Pulmonary Artery |
|
Pulmonary edema, Recurrent pneumonia, Pulmonary hypoplasia, Bronchiectasis, Recurrent respiratory... |
ORPHA:980 |
Otopalatodigital Syndrome Type 2 |
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Tarsal synostosis, Increased bone mineral density, Synostosis of carpal bones, Omphalocele, Failu... |
ORPHA:90652 |
Schwartz-Jampel Syndrome |
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Polyhydramnios, Flexion contracture of toe, Inguinal hernia, Increased bone mineral density, Cach... |
ORPHA:800 |
Osteopetrosis, Autosomal Recessive 5 |
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Cranial hyperostosis, Osteopetrosis, Increased bone mineral density, Decreased osteoclast count, ... |
OMIM:259720 |
Liver Disease, Severe Congenital |
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Pulmonary edema, Inguinal hernia, Hypoproteinemia, Ascites, Failure to thrive, Elevated circulati... |
OMIM:619991 |
Leukocyte Adhesion Deficiency |
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Perianal abscess, Chronic oral candidiasis, Sepsis, Acute myeloid leukemia, Recurrent tonsillitis... |
ORPHA:2968 |
Histiocytoid Cardiomyopathy |
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Failure to thrive, Pulmonary edema |
ORPHA:137675 |
Bullous Diffuse Cutaneous Mastocytosis |
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Cutaneous mastocytosis |
ORPHA:280785 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
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Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic leukemia, Chron... |
ORPHA:98849 |
Leukocyte Adhesion Deficiency, Type Iii |
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Osteopetrosis |
OMIM:612840 |
Lenz-Majewski Hyperostotic Dwarfism |
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Cranial hyperostosis, Osteopetrosis, Abnormal cortical bone morphology, Inguinal hernia, Increase... |
ORPHA:2658 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
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Craniofacial osteosclerosis, Osteopetrosis, Increased skull ossification, Diaphyseal sclerosis |
OMIM:618476 |
Infection-Related Hemolytic Uremic Syndrome |
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Myocarditis, Increased circulating interleukin 6 concentration, Pancreatitis, Acute colitis, Seve... |
ORPHA:544482 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
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Abnormal circulating interferon-gamma concentration, Recurrent infections, Recurrent Aspergillus ... |
ORPHA:391487 |
Raine Syndrome |
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Subperiosteal bone formation, Increased bone mineral density, Enamel hypoplasia, Pulmonary hypopl... |
OMIM:259775 |
X-Linked Hypophosphatemia |
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Rickets, Reduced bone mineral density, Vertebral hyperostosis, Arthritis, Limitation of joint mob... |
ORPHA:89936 |
Desmosterolosis |
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Total anomalous pulmonary venous return, Failure to thrive, Generalized osteosclerosis, Arthrogry... |
OMIM:602398 |
12Q14 Microdeletion Syndrome |
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Failure to thrive, Osteopoikilosis |
ORPHA:94063 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
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Pericardial effusion, Pulmonary edema |
ORPHA:73224 |
Blomstrand Lethal Chondrodysplasia |
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Polyhydramnios, Hydrops fetalis, Increased bone mineral density, Synostosis of joints, Pulmonary ... |
ORPHA:50945 |
Truncus Arteriosus |
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Abnormal lung lobation, Pulmonary edema, Pulmonary artery atresia, Pulmonary artery hypoplasia, P... |
ORPHA:3384 |
Hyperoxaluria, Primary, Type I |
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Increased bone mineral density, Dehydration, Pathologic fracture |
OMIM:259900 |
Pycnodysostosis |
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Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand |
OMIM:265800 |
Kenny-Caffey Syndrome, Type 2 |
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Increased bone mineral density, Small for gestational age, Thickened cortex of long bones |
OMIM:127000 |
Osteopetrosis, Autosomal Recessive 3 |
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Cranial hyperostosis, Osteopetrosis, Diaphyseal sclerosis |
OMIM:259730 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
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Failure to thrive, Small for gestational age, Inguinal hernia, Pulmonary edema |
OMIM:220111 |
Atypical Werner Syndrome |
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Lipoatrophy, Reduced bone mineral density, Osteolytic defects of the phalanges of the hand, Gener... |
ORPHA:79474 |
Sanjad-Sakati Syndrome |
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Abnormal dental enamel morphology, Recurrent respiratory infections, Patchy osteosclerosis |
ORPHA:2323 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
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Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Hyperbilirubinemia, ... |
ORPHA:158057 |
Shwachman-Diamond Syndrome |
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Aplastic anemia, Normocytic anemia, Sepsis, Anemia, Acute myeloid leukemia, Macrocytic anemia, Pa... |
ORPHA:811 |
Pseudohypoparathyroidism Type 1A |
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Reduced bone mineral density, Increased bone mineral density, Ectopic ossification, Hyperostosis ... |
ORPHA:79443 |
Pseudohypoparathyroidism Type 1C |
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Increased bone mineral density, Enamel hypoplasia, Obesity, Ectopic ossification |
ORPHA:79444 |
New-Onset Refractory Status Epilepticus |
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Abnormal circulating interleukin concentration, Infectious encephalitis |
ORPHA:363558 |
Intrahepatic Cholestasis Of Pregnancy |
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Increased serum bile acid concentration, Hyperbilirubinemia, Abnormal circulating interleukin con... |
ORPHA:69665 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
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Patchy osteosclerosis |
OMIM:241410 |
Cleidocranial Dysplasia 1 |
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Increased bone mineral density, Enamel hypoplasia, Delayed pubic bone ossification, Increased sus... |
OMIM:119600 |
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia |
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Increased bone mineral density, Coarse metaphyseal trabecularization, Thickened cortex of long bones |
OMIM:620558 |
Primary Hyperoxaluria |
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Generalized osteosclerosis, Failure to thrive, Recurrent fractures |
ORPHA:416 |
Autosomal Recessive Malignant Osteopetrosis |
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Osteopetrosis, Reduced bone mineral density, Pulmonary artery stenosis, Craniosynostosis, Recurre... |
ORPHA:667 |
Osteopetrosis With Renal Tubular Acidosis |
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Osteopetrosis, Elevated circulating creatine kinase concentration, Failure to thrive, Oligohydram... |
ORPHA:2785 |
Williams Syndrome |
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Osteopenia, Inguinal hernia, Increased bone mineral density, Abnormal dental enamel morphology, E... |
ORPHA:904 |
Peripartum Cardiomyopathy |
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Increased circulating interferon-gamma concentration, Myocarditis |
ORPHA:563 |
Autoimmune Lymphoproliferative Syndrome |
|
Decreased specific anti-polysaccharide antibody level, Gastritis, Increased circulating antibody ... |
ORPHA:3261 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
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Recurrent otitis media, Increased circulating interleukin 6 concentration, Increased circulating ... |
OMIM:256040 |
Sclerosteosis 1 |
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Cortically dense long tubular bones, Sclerotic scapulae, Facial palsy secondary to cranial hypero... |
OMIM:269500 |
Aregenerative Anemia |
|
Abnormal circulating interleukin concentration |
ORPHA:101096 |
Hennekam-Beemer Syndrome |
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Mastocytosis |
ORPHA:2135 |
Say-Barber-Miller Syndrome |
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Abnormal T cell morphology, Decreased circulating antibody level, Transient hypogammaglobulinemia... |
ORPHA:3132 |
Parenteral Nutrition-Associated Cholestasis |
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Abnormality of cytokine secretion |
ORPHA:567983 |
Schinzel-Giedion Midface Retraction Syndrome |
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Sclerosis of skull base, Increased density of long bones, Failure to thrive, Thickened cortex of ... |
OMIM:269150 |
Aicardi-Goutières Syndrome |
|
Panniculitis, Increased circulating interferon-gamma concentration, Arthritis, Myositis, Chilblains |
ORPHA:51 |
Pmm2-Cdg |
|
Impaired neutrophil chemotaxis |
ORPHA:79318 |