Granulomatous disease with defect in neutrophil chemotaxis |
|
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections |
OMIM:233670 |
Specific Granule Deficiency 1 |
|
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... |
OMIM:245480 |
Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent 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 Neisserial infections, Recurrent meningococcal disease |
OMIM:610102 |
Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent protozoan infections, Recurrent viral infections |
OMIM:308220 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia, Decreased circulating IgG level, Recurrent bacterial infections, Recurrent can... |
OMIM:242870 |
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density, Pedal edema |
ORPHA:75325 |
Buschke-Ollendorff Syndrome |
|
Connective tissue nevi, Osteopoikilosis, Flexion contracture, Joint stiffness |
OMIM:166700 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu... |
ORPHA:70592 |
Immunodeficiency, Common Variable, 5 |
|
Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in... |
OMIM:613495 |
Myelolymphatic Insufficiency |
|
Leukopenia, Hyposegmentation of neutrophil nuclei, Recurrent bacterial infections, Recurrent vira... |
OMIM:310350 |
Melorheostosis With Osteopoikilosis |
|
Multiple lipomas, Osteopoikilosis, Abnormal cortical bone morphology |
ORPHA:1879 |
Melorheostosis |
|
Increased bone mineral density, Joint stiffness, Lymphedema, Atypical scarring of skin, Hyperosto... |
ORPHA:2485 |
Immunodeficiency 35 |
|
Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,... |
OMIM:611521 |
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 |
Immunodeficiency, Common Variable, 4 |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:613494 |
Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Ectopic ossification, Increased bone mineral density |
OMIM:602475 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Impaired Ig ... |
OMIM:605258 |
Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Recurrent viral infections |
OMIM:613796 |
Mueller-Weiss Syndrome |
|
Limitation of movement at ankles, Edema of the dorsum of feet, Sclerosis of foot bone, Joint stif... |
ORPHA:566943 |
Osteochondrosis Of The Metatarsal Bone |
|
Sclerosis of foot bone, Joint stiffness, Thickened cortex of bones, Pedal edema, Arthritis |
ORPHA:564003 |
Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Increased bone mineral density, Polyhydramnios, Hydrops fetalis, Aplasia/Hypoplasia of the lungs,... |
ORPHA:2204 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... |
OMIM:606843 |
Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent isohemaggl... |
OMIM:613501 |
Isolated Osteopoikilosis |
|
Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Sclerotic ... |
ORPHA:166119 |
Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis |
ORPHA:3416 |
Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
Immunodeficiency 32B |
|
Recurrent respiratory infections, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Rec... |
OMIM:226990 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin... |
OMIM:613500 |
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis |
ORPHA:280794 |
Immunodeficiency, Common Variable, 3 |
|
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Decrease... |
OMIM:613493 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... |
OMIM:613502 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Recurrent bacter... |
OMIM:202700 |
Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Clavicular sclerosis, Abnormal cortical bone morphology, Generalized o... |
ORPHA:2790 |
Flynn-Aird Syndrome |
|
Increased bone mineral density, Osteoporosis, Increased bone density with cystic changes, Joint s... |
OMIM:136300 |
Van Buchem Disease |
|
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones |
OMIM:239100 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Bronchiolitis, Neutrophilia, Recurrent otitis media, Reduction of neutrophil motility |
OMIM:266265 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Increased circulating IgM level, Recurrent bacterial infe... |
OMIM:608106 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Increased bone mineral density, Craniosynostosis |
ORPHA:178377 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
Sclerosteosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:3152 |
Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Edema, Pulmonary edema |
OMIM:178400 |
Adult Acute Respiratory Distress Syndrome |
|
Increased circulating interleukin 6 concentration, Pneumonia, Abnormal circulating interleukin co... |
ORPHA:70578 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration |
OMIM:109130 |
Acute Lung Injury |
|
Increased circulating interleukin 6 concentration, Acute pancreatitis, Pneumonia, Elevated circul... |
ORPHA:178320 |
Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density, Obesity |
OMIM:618406 |
Cd8 Deficiency, Familial |
|
Recurrent respiratory infections, Recurrent bacterial infections, Recurrent viral infections |
OMIM:608957 |
Respiratory Distress Syndrome In Premature Infants |
|
Atelectasis, Edema, Pulmonary edema |
OMIM:267450 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S... |
OMIM:233710 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... |
OMIM:617300 |
Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
Osteosclerosis With Ichthyosis And Fractures |
|
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures |
OMIM:166740 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S... |
OMIM:233690 |
Dentin Dysplasia With Sclerotic Bones |
|
Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis |
OMIM:125440 |
Lethal Recessive Chondrodysplasia |
|
Generalized osteosclerosis, Polyhydramnios, Edema |
ORPHA:1423 |
Osteopetrosis, Autosomal Dominant 1 |
|
Thickened cortex of long bones, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis |
OMIM:607634 |
Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... |
OMIM:166600 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Increased circulating interleukin 6 concentration, Increased circulating interferon-gamma concent... |
ORPHA:542323 |
Immunodeficiency 108 With Autoinflammation |
|
Hyposegmentation of neutrophil nuclei, Recurrent abscess formation, Impaired neutrophil chemotaxis |
OMIM:260570 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... |
OMIM:612692 |
Chondrodysplasia, Blomstrand Type |
|
Polyhydramnios, Fetal ascites, Generalized osteosclerosis, Advanced ossification of carpal bones,... |
OMIM:215045 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis |
OMIM:122860 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Recurrent respir... |
OMIM:618986 |
Immunodeficiency 67 |
|
Liver abscess, Transient neutropenia, Recurrent staphylococcal infections, Increased circulating ... |
OMIM:607676 |
Osteopetrosis, Autosomal Recessive 9 |
|
Pathologic fracture, Increased bone mineral density, Osteopetrosis, Cortical sclerosis |
OMIM:620366 |
Vulvovaginal Gingival Syndrome |
|
Abnormality of tumor necrosis factor secretion |
ORPHA:83453 |
Schnitzler Syndrome |
|
Arthritis, Increased bone mineral density, Increased circulating IgM level |
ORPHA:37748 |
Intermediate Osteopetrosis |
|
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Increased sus... |
ORPHA:210110 |
Wild Type Attr Amyloidosis |
|
Abnormal pulmonary interstitial morphology, Pedal edema, Weight loss, Pleural effusion, Pulmonary... |
ORPHA:330001 |
Infant Acute Respiratory Distress Syndrome |
|
Respiratory tract infection, Atelectasis, Pneumonia, Pulmonary edema |
ORPHA:70587 |
Immunodeficiency, Common Variable, 13 |
|
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, Recurrent bacte... |
OMIM:616873 |
Cirrhotic Cardiomyopathy |
|
Increased circulating NT-proBNP concentration, Abnormal circulating A-type atrial natriuretic pep... |
ORPHA:57777 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Abscess, Perianal abscess, Splenomegaly, Recurrent pneumonia, Recurrent tonsill... |
OMIM:618935 |
Macrophage Activation Syndrome |
|
Increased inflammatory response, Increased circulating interleukin 6 concentration, Hypertriglyce... |
ORPHA:158061 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Recurrent bacterial infections, Neutropenia |
ORPHA:86788 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular sclerosis, Thickened cortex o... |
OMIM:144750 |
Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis |
OMIM:611497 |
Necrobiosis Lipoidica |
|
Granuloma, Abnormality of neutrophil physiology |
ORPHA:542592 |
Osteopetrosis, Autosomal Recessive 4 |
|
Osteopetrosis, Increased bone mineral density, Recurrent fractures |
OMIM:611490 |
Granulomatous Disease, Chronic, X-Linked |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S... |
OMIM:306400 |
Adult Idiopathic Neutropenia |
|
Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Increased circula... |
ORPHA:2688 |
Mogs-Cdg |
|
Generalized edema, Pulmonary edema, Edema, Polyhydramnios, Decreased circulating antibody level, ... |
ORPHA:79330 |
Systemic Capillary Leak Syndrome |
|
Pleural effusion, Weight loss, Pedal edema, Pulmonary edema |
ORPHA:188 |
Gaucher Disease Type 1 |
|
Osteopenia, Increased bone mineral density, Pericardial effusion, Osteoarthritis, Osteolysis, Ped... |
ORPHA:77259 |
Pulmonary Capillary Hemangiomatosis |
|
Pulmonary edema, Diffuse alveolar hemorrhage, Pericardial effusion, Pulmonary capillary hemangiom... |
ORPHA:199241 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Skin rash, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunisti... |
ORPHA:275 |
Majeed Syndrome |
|
Increased bone mineral density, Osteomyelitis, Edema, Cachexia, Flexion contracture, Synovitis, I... |
ORPHA:77297 |
Osteogenesis Imperfecta, Type Xiii |
|
Increased bone mineral density, Recurrent fractures, Dentinogenesis imperfecta, Osteoporosis, Red... |
OMIM:614856 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Recurrent systemi... |
OMIM:214500 |
Ovarian Hyperstimulation Syndrome |
|
Pulmonary edema, Peripheral edema, Pleural effusion, Ascites, Generalized edema |
ORPHA:64739 |
Sweet Syndrome |
|
Predominantly dermal neutrophilic infiltrate, Increased circulating interleukin 6 concentration, ... |
ORPHA:3243 |
High Altitude Pulmonary Edema |
|
Pulmonary edema |
ORPHA:330012 |
Osteopetrosis, Autosomal Recessive 1 |
|
Increased bone mineral density, Osteomyelitis, Craniosynostosis, Osteopetrosis, Pathologic fractu... |
OMIM:259700 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Maculopapular exanthema,... |
ORPHA:540 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Splenomegaly, Spontaneous hemolytic crises, Nonspheroc... |
OMIM:613470 |
Poems Syndrome |
|
Sclerosis of hand bone, Lipodystrophy, Sclerosis of foot bone, Edema, Pericardial effusion, Weigh... |
ORPHA:2905 |
Ghosal Hematodiaphyseal Dysplasia |
|
Myelofibrosis, Increased bone mineral density, Hyperostosis cranialis interna |
OMIM:231095 |
Dysosteosclerosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Abnormal dental enamel morphology, Rec... |
ORPHA:1782 |
Paget Disease Of Bone 3 |
|
Fractures of the long bones, Osteolysis, Patchy osteosclerosis |
OMIM:167250 |
Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Abnormal vertebral segmentation and fusion, Limitation of joint m... |
ORPHA:90650 |
Indolent Systemic Mastocytosis |
|
Mastocytosis, Splenomegaly, Increased proportion of CD25+ mast cells, Abnormal mast cell morphology |
ORPHA:98848 |
Diastrophic Dysplasia |
|
Recurrent respiratory infections, Increased bone mineral density, Camptodactyly of finger, Joint ... |
ORPHA:628 |
Familial Isolated Restrictive Cardiomyopathy |
|
Recurrent respiratory infections, Peripheral edema, Pulmonary edema |
ORPHA:75249 |
Japanese Encephalitis |
|
Stiff neck, Elbow flexion contracture, Increased circulating IgM level, Increased circulating ant... |
ORPHA:79139 |
Chédiak-Higashi Syndrome |
|
Abnormal leukocyte morphology, Recurrent bacterial skin infections, Pancytopenia, Recurrent respi... |
ORPHA:167 |
Spondyloepiphyseal Dysplasia Tarda |
|
Increased bone mineral density, Osteoarthritis of the distal interphalangeal joint, Abnormally os... |
ORPHA:93284 |
Albers-Schönberg Osteopetrosis |
|
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Osteoar... |
ORPHA:53 |
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 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Increased bone mineral density, Recurrent fractures, Macular scar, Ankylosis, Osteopo... |
OMIM:239000 |
Mastocytosis, Cutaneous |
|
Cutaneous mastocytosis |
OMIM:154800 |
Osteopetrosis, Autosomal Recessive 2 |
|
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Cranial hyperostosis, Diaphyseal sc... |
OMIM:259710 |
Osteopetrosis, Autosomal Recessive 8 |
|
Failure to thrive, Osteopetrosis |
OMIM:615085 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Decrease... |
OMIM:601495 |
Tricho-Dento-Osseous Syndrome |
|
Increased bone mineral density, Enamel hypomineralization, Dental enamel pits |
ORPHA:3352 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Delayed patellar ossification, Increased bone mineral density, Abnormal bone ossification |
ORPHA:163649 |
Werner Syndrome |
|
Increased bone mineral density, Lipodystrophy, Lipoatrophy, Joint stiffness, Pulmonary artery ste... |
ORPHA:902 |
Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly |
ORPHA:66661 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Sclerosis of mi... |
ORPHA:85188 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Pericardial effusion, Ascites, Pulmonary edema |
OMIM:115197 |
Craniometaphyseal Dysplasia |
|
Craniofacial hyperostosis, Osteopetrosis |
ORPHA:1522 |
Hellp Syndrome |
|
Pleural effusion, Pulmonary edema, Increased body weight, Generalized edema |
ORPHA:244242 |
Gaucher Disease Type 3 |
|
Recurrent respiratory infections, Increased bone mineral density, Pericardial effusion, Osteolysi... |
ORPHA:77261 |
Camurati-Engelmann Disease |
|
Reduced subcutaneous adipose tissue, Increased bone mineral density, Diaphyseal sclerosis, Cortic... |
OMIM:131300 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Pericardial effusion, Anasarca, Peripheral edema, Pleural effusion, Ascites, Pulmonary edema |
OMIM:261740 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Osteopenia, Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Os... |
OMIM:112250 |
Beemer-Ertbruggen Syndrome |
|
Increased bone mineral density |
ORPHA:1237 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Thin bony cortex |
ORPHA:85184 |
Hemorrhagic Fever-Renal Syndrome |
|
Increased circulating interleukin 6 concentration, Pneumonia, Decreased body weight, Pleural effu... |
ORPHA:340 |
Cocaine Intoxication |
|
Pulmonary edema, Pneumothorax, Elevated circulating creatine kinase concentration, Diffuse alveol... |
ORPHA:90068 |
Pycnodysostosis |
|
Joint laxity, Increased bone mineral density, Overweight, Generalized osteosclerosis, Increased s... |
ORPHA:763 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Facial hyperostosis, Increased bone mineral density, Osteopetrosis, Coarse metaphyseal trabecular... |
ORPHA:2780 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Osteopetrosis, Polyhydramnios |
OMIM:618541 |
Aggressive Systemic Mastocytosis |
|
Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Increased propor... |
ORPHA:98850 |
Ethylene Glycol Poisoning |
|
Cerebral edema, Pulmonary edema |
ORPHA:31826 |
Ogden Syndrome |
|
Inguinal hernia, Lymphedema, Pulmonary artery stenosis, Oligohydramnios, Pulmonary hypoplasia, Mi... |
OMIM:300855 |
Erdheim-Chester Disease |
|
Increased bone mineral density, Osteomyelitis, Osteolysis, Abnormal pulmonary interstitial morpho... |
ORPHA:35687 |
Tako-Tsubo Cardiomyopathy |
|
Obesity, Pulmonary edema, Mildly elevated creatine kinase, Abnormal B-type natriuretic peptide co... |
ORPHA:66529 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Psoriasiform dermatitis, Skin rash, Iridocyclitis, Oligoarthritis, Uveitis, Ent... |
ORPHA:85436 |
Gaucher Disease |
|
Osteopenia, Increased bone mineral density, Osteomyelitis, Recurrent fractures, Elevated circulat... |
ORPHA:355 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Increased circulating ferritin concentration, Osteopetrosis |
ORPHA:3240 |
Scorpion Envenomation |
|
Pulmonary edema, Increased circulating NT-proBNP concentration, Edema, Increased circulating crea... |
ORPHA:466677 |
Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Increased susceptibility to fractures, Sc... |
OMIM:224300 |
Autoimmune Hypoparathyroidism |
|
Increased bone mineral density |
ORPHA:36913 |
Desmosterolosis |
|
Increased bone mineral density, Failure to thrive, Osteopetrosis, Anomalous pulmonary venous return |
ORPHA:35107 |
Focal Facial Dermal Dysplasia Type Iv |
|
Abnormal mast cell morphology |
ORPHA:398189 |
Leukocyte Adhesion Deficiency |
|
Acute myeloid leukemia, Chronic oral candidiasis, Recurrent urinary tract infections, Recurrent s... |
ORPHA:2968 |
Dysostosis, Stanescu Type |
|
Massively thickened long bone cortices, Increased bone mineral density, Abnormal dental enamel mo... |
ORPHA:1798 |
Trichothiodystrophy |
|
Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis, Recurr... |
ORPHA:33364 |
Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Recurrent pneumonia, Decreased circulating total IgM, Osteop... |
OMIM:612301 |
Osteopetrosis, Autosomal Recessive 5 |
|
Increased bone mineral density, Cranial hyperostosis, Decreased osteoclast count, Osteopetrosis, ... |
OMIM:259720 |
Liver Disease, Severe Congenital |
|
Joint laxity, Inguinal hernia, Failure to thrive, Pneumonia, Elevated circulating alpha-fetoprote... |
OMIM:619991 |
Schwartz-Jampel Syndrome |
|
Hip contracture, Increased bone mineral density, Abnormally ossified vertebrae, Inguinal hernia, ... |
ORPHA:800 |
Otopalatodigital Syndrome Type 2 |
|
Omphalocele, Increased bone mineral density, Failure to thrive, Camptodactyly of finger, Tarsal s... |
ORPHA:90652 |
Absence Of The Pulmonary Artery |
|
Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Pedal edema, Pulmonary hyp... |
ORPHA:980 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... |
ORPHA:289176 |
Histiocytoid Cardiomyopathy |
|
Failure to thrive, Pulmonary edema |
ORPHA:137675 |
Bullous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis |
ORPHA:280785 |
Pseudohypoparathyroidism Type 1B |
|
Increased bone density with cystic changes, Increased bone mineral density, Diaphyseal sclerosis,... |
ORPHA:94089 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Osteopetrosis |
OMIM:612840 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Increased bone mineral density, Inguinal hernia, Femoral hernia, Abnormal dental enamel morpholog... |
ORPHA:2658 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Osteopetrosis, Increased skull ossification, Craniofacial osteosclerosis, Diaphyseal sclerosis |
OMIM:618476 |
Infection-Related Hemolytic Uremic Syndrome |
|
Brain abscess, Increased circulating interleukin 6 concentration, Pneumonia, Myocarditis, Severe ... |
ORPHA:544482 |
Hyperoxaluria, Primary, Type I |
|
Pathologic fracture, Increased bone mineral density, Dehydration |
OMIM:259900 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Pericardial effusion, Pulmonary edema |
ORPHA:73224 |
X-Linked Hypophosphatemia |
|
Odontodysplasia, Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rick... |
ORPHA:89936 |
12Q14 Microdeletion Syndrome |
|
Osteopoikilosis, Failure to thrive |
ORPHA:94063 |
Blomstrand Lethal Chondrodysplasia |
|
Increased bone mineral density, Polyhydramnios, Hydrops fetalis, Pulmonary hypoplasia, Synostosis... |
ORPHA:50945 |
Raine Syndrome |
|
Increased bone mineral density, Subperiosteal bone formation, Pulmonary hypoplasia, Arthrogryposi... |
OMIM:259775 |
Desmosterolosis |
|
Generalized osteosclerosis, Joint contracture of the hand, Total anomalous pulmonary venous retur... |
OMIM:602398 |
Pycnodysostosis |
|
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand |
OMIM:265800 |
Osteopetrosis, Autosomal Recessive 3 |
|
Osteopetrosis, Cranial hyperostosis, Diaphyseal sclerosis |
OMIM:259730 |
Truncus Arteriosus |
|
Anomalous origin of one pulmonary artery from ascending aorta, Pulmonary artery stenosis, Abnorma... |
ORPHA:3384 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Inguinal hernia, Failure to thrive, Small for gestational age, Pulmonary edema |
OMIM:220111 |
Kenny-Caffey Syndrome, Type 2 |
|
Increased bone mineral density, Small for gestational age, Thickened cortex of long bones |
OMIM:127000 |
Atypical Werner Syndrome |
|
Sclerosis of hand bone, Increased bone mineral density, Failure to thrive, Lipoatrophy, Limitatio... |
ORPHA:79474 |
Pseudohypoparathyroidism Type 1A |
|
Increased bone mineral density, Obesity, Reduced bone mineral density, Hyperostosis frontalis int... |
ORPHA:79443 |
Pseudohypoparathyroidism Type 1C |
|
Ectopic ossification, Increased bone mineral density, Enamel hypoplasia, Obesity |
ORPHA:79444 |
Sanjad-Sakati Syndrome |
|
Recurrent respiratory infections, Abnormal dental enamel morphology, Patchy osteosclerosis |
ORPHA:2323 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... |
ORPHA:811 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Patchy osteosclerosis |
OMIM:241410 |
Cleidocranial Dysplasia 1 |
|
Increased bone mineral density, Delayed pubic bone ossification, Enamel hypoplasia, Increased sus... |
OMIM:119600 |
Osteopetrosis With Renal Tubular Acidosis |
|
Recurrent fractures, Elevated circulating creatine kinase concentration, Osteopetrosis, Failure t... |
ORPHA:2785 |
Primary Hyperoxaluria |
|
Generalized osteosclerosis, Failure to thrive, Recurrent fractures |
ORPHA:416 |
Autosomal Recessive Malignant Osteopetrosis |
|
Recurrent respiratory infections, Recurrent fractures, Craniosynostosis, Pulmonary artery stenosi... |
ORPHA:667 |
Williams Syndrome |
|
Osteopenia, Joint laxity, Increased bone mineral density, Recurrent respiratory infections, Ingui... |
ORPHA:904 |
Sclerosteosis 1 |
|
Facial palsy secondary to cranial hyperostosis, Cortically dense long tubular bones, Sclerotic sc... |
OMIM:269500 |
Aregenerative Anemia |
|
Abnormality of interleukin secretion |
ORPHA:101096 |
Hennekam-Beemer Syndrome |
|
Mastocytosis |
ORPHA:2135 |
Parenteral Nutrition-Associated Cholestasis |
|
Abnormality of cytokine secretion |
ORPHA:567983 |
Say-Barber-Miller Syndrome |
|
Transient hypogammaglobulinemia of infancy, Decreased circulating antibody level, Abnormal T cell... |
ORPHA:3132 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Sclerosis of skull base, Failure to thrive, Increased density of long bones, Thickened cortex of ... |
OMIM:269150 |
Ectodermal Dysplasia And Immunodeficiency 2 |
|
Defective production of NFKB1-dependent cytokines |
OMIM:612132 |
Pmm2-Cdg |
|
Impaired neutrophil chemotaxis |
ORPHA:79318 |