| Medial Condensing Osteitis Of The Clavicle |
|
Limited shoulder movement, Patchy reduction of bone mineral density |
ORPHA:57196 |
| Paget Disease Of Bone 4 |
|
Osteolysis |
OMIM:606263 |
| Emphysema, Hereditary Pulmonary |
|
Emphysema, Chronic bronchitis |
OMIM:130700 |
| Xanthoma Disseminatum |
|
Osteolysis |
ORPHA:158003 |
| Familial Expansile Osteolysis |
|
Pathologic fracture, Osteolysis, Thin bony cortex |
OMIM:174810 |
| Juvenile Hyaline Fibromatosis |
|
Abnormality of the gastrointestinal tract, Progressive flexion contractures, Osteolysis, Joint st... |
ORPHA:2028 |
| Hyaline Fibromatosis Syndrome |
|
Osteopenia, Progressive flexion contractures, Flexion contracture, Osteoporosis, Osteolysis |
OMIM:228600 |
| Melorheostosis With Osteopoikilosis |
|
Osteopoikilosis, Abnormal cortical bone morphology |
ORPHA:1879 |
| Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Abnormal cortical bone morphology, Osteolysis, Foot acroosteolysis, Reduced bone mineral density |
ORPHA:970 |
| Mu-Heavy Chain Disease |
|
Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Anemia |
ORPHA:100024 |
| Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
| Autosomal Recessive Distal Osteolysis Syndrome |
|
Osteolysis |
ORPHA:2776 |
| Desmoid Tumor |
|
Gastrointestinal hemorrhage, Intestinal polyposis, Intestinal obstruction, Malabsorption, Limitat... |
ORPHA:873 |
| Rosaï-Dorfman Disease |
|
Osteolysis, Anemia |
ORPHA:158014 |
| Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis |
ORPHA:3416 |
| Avascular Necrosis Of Femoral Head, Primary, 1 |
|
Generalized osteoporosis |
OMIM:608805 |
| Keratoderma Hereditarium Mutilans |
|
Osteolysis, Cleft palate |
ORPHA:494 |
| Paget Disease Of Bone 3 |
|
Fractures of the long bones, Osteolysis, Patchy osteosclerosis |
OMIM:167250 |
| Gnathodiaphyseal Dysplasia |
|
Osteopenia, Recurrent fractures, Thickened cortex of long bones, Mandibular osteomyelitis |
ORPHA:53697 |
| Gorham-Stout Disease |
|
Osteopenia, Osteomyelitis, Osteolysis involving bones of the upper limbs, Osteolysis, Osteolysis ... |
ORPHA:73 |
| Infantile Myofibromatosis |
|
Neoplasm of the pancreas, Intestinal obstruction, Bone cyst, Limitation of joint mobility, Trache... |
ORPHA:2591 |
| Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Clavicular sclerosis, Abnormal cortical bone morphology, Generalized o... |
ORPHA:2790 |
| Ramon Syndrome |
|
Osteolysis, Narrow palate |
ORPHA:3019 |
| Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Atelectasis, Bronchiectasis |
OMIM:253240 |
| Hypogonadotropic Hypogonadism 19 With Or Without Anosmia |
|
Osteopenia, Osteoporosis |
OMIM:615269 |
| Maffucci Syndrome |
|
Recurrent fractures, Neoplasm of the parathyroid gland, Pituitary adenoma, Osteolysis, Ovarian ne... |
ORPHA:163634 |
| Congenital Lobar Emphysema |
|
Emphysema |
ORPHA:1928 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Splenomegaly, Craniofacial hyperostosis, Abnormal cortical bone morphology, Anemia |
ORPHA:1802 |
| Osteochondrosis Of The Metatarsal Bone |
|
Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness |
ORPHA:564003 |
| Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Pancytopenia, Malabsorption, Hypersplenism, Thrombocytopenia, Leukoc... |
ORPHA:98850 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poiki... |
OMIM:615631 |
| Sclerosteosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:3152 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py... |
ORPHA:766 |
| Osteosarcoma |
|
Pathologic fracture, Osteolysis |
ORPHA:668 |
| Eiken Syndrome |
|
Abnormal trabecular bone morphology, Delayed epiphyseal ossification, Limited elbow flexion, Abno... |
ORPHA:79106 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Cryptorchidism, Macrothrombocytopenia, Poikilocyto... |
ORPHA:67044 |
| Ollier Disease |
|
Osteolysis, Anemia, Joint stiffness |
ORPHA:296 |
| Extensor Tendons Of Finger Anomalies |
|
Limitation of joint mobility, Osteoporosis, Camptodactyly of finger |
ORPHA:3294 |
| Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Hyperparathyroidism, Osteomalacia, Recurrent fractures, Bone cyst, Osteolysis, Abnormal bone stru... |
ORPHA:93160 |
| Tenosynovial Giant Cell Tumor |
|
Limitation of joint mobility, Localized osteoporosis, Osteolysis, Joint stiffness |
ORPHA:66627 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Splenomegaly, Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2204 |
| Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Camptodactyly of finger, Limitation of joint mobility, Osteolysis, Metacarpal osteolysis, Carpal ... |
ORPHA:2774 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Osteomyelitis, Craniofacial osteosclerosis, Osteolysis, Hyperostosis, Arthritis, Inflammation of ... |
ORPHA:324964 |
| Gamma-Heavy Chain Disease |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopenia, Osteoly... |
ORPHA:100026 |
| 12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
| Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
| Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
| Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Bronchiectasis |
OMIM:615872 |
| Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Thin bony cortex |
ORPHA:75508 |
| Polyposis of gastric fundus without polyposis coli |
|
Abnormal gastric mucosa morphology, Multiple gastric polyps |
OMIM:175505 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Generalized bone demineralizati... |
OMIM:600785 |
| Hutchinson-Gilford Progeria Syndrome |
|
Osteolysis, Generalized osteoporosis |
OMIM:176670 |
| Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Pathologic fracture, Abnormal cortical bone morphology, Limitation of joint mobility |
ORPHA:166277 |
| Hypogonadotropic Hypogonadism 21 With Or Without Anosmia |
|
Osteopenia, Osteoporosis |
OMIM:615271 |
| Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
| Florid Cemento-Osseous Dysplasia |
|
Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno... |
ORPHA:83451 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Osteopenia, Osteolysis involving bones of the upper limbs, Osteoporosis, Osteolysis, Osteolysis i... |
ORPHA:371428 |
| Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
| Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Ectopic ossification, Increased bone mineral density |
OMIM:602475 |
| Osteoporosis, Juvenile |
|
Osteoporosis |
OMIM:259750 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Decreased hemoglobin concentration, Circulating nucleated red blood cells, Hypospad... |
OMIM:613673 |
| Classic Hodgkin Lymphoma |
|
Splenomegaly, Osteolysis |
ORPHA:391 |
| Premature Ovarian Failure 2B |
|
Osteoporosis |
OMIM:300604 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
| Diffuse Cutaneous Systemic Sclerosis |
|
Malabsorption, Flexion contracture, Xerostomia, Osteolysis, Arthritis, Gastroesophageal reflux, D... |
ORPHA:220393 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Neutrophilia, Osteomyelitis, Abscess, Splenomegaly, Periostitis, Osteolysis, Fused ce... |
OMIM:612852 |
| Dermatoosteolysis, Kirghizian Type |
|
Osteoarthritis, Tarsal synostosis, Osteolysis |
ORPHA:1657 |
| Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Atelectasis, Recurrent bronchitis |
OMIM:300455 |
| Metatropic Dysplasia |
|
Camptodactyly of finger, Joint stiffness, Abnormal enchondral ossification, Cleft palate, Abnorma... |
ORPHA:2635 |
| Caffey Disease |
|
Calvarial hyperostosis, Cortical thickening of long bone diaphyses, Cortical irregularity, Perios... |
ORPHA:1310 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Calvarial hyperostosis, Pathologic fracture, Osteolysis, Increased susceptibility to fractures |
ORPHA:52430 |
| Pachydermoperiostosis |
|
Gastrointestinal hemorrhage, Osteomyelitis, Peptic ulcer, Elevated circulating growth hormone con... |
ORPHA:2796 |
| Frank-Ter Haar Syndrome |
|
Camptodactyly of finger, Osteolysis, Joint stiffness |
ORPHA:137834 |
| Sapho Syndrome |
|
Osteomyelitis, Recurrent fractures, Malabsorption, Craniofacial osteosclerosis, Osteolysis, Synov... |
ORPHA:793 |
| Paget Disease Of Bone 2, Early-Onset |
|
Fractures of the long bones, Osteolysis, Increased susceptibility to fractures, Sclerosis of skul... |
OMIM:602080 |
| Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Anisocytosis, Splenomegaly, Hepatosplenomegaly, Decreased mean corpuscular volume, ... |
OMIM:616860 |
| Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... |
ORPHA:86841 |
| Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
|
Proximal phalangeal periosteal thickening, Gastric hypertrophy, Osteolytic defects of the phalang... |
OMIM:161700 |
| Pyle Disease |
|
Limited elbow extension, Thin bony cortex, Reduced bone mineral density |
OMIM:265900 |
| Ck Syndrome |
|
Abnormal cortical bone morphology, High palate, Joint hypermobility |
OMIM:300831 |
| Ovarian Dysgenesis 1 |
|
Increased circulating gonadotropin level, Osteoporosis |
OMIM:233300 |
| Cranio-Osteoarthropathy |
|
Arthritis, Osteoarthritis, Abnormal cortical bone morphology, Joint stiffness |
ORPHA:1525 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S... |
OMIM:224120 |
| Van Buchem Disease |
|
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones |
OMIM:239100 |
| Hip Dysplasia, Beukes Type |
|
Abnormal ossification involving the femoral head and neck, Osteoarthritis, Abnormality of bone mi... |
ORPHA:2114 |
| Autosomal Recessive Primary Microcephaly |
|
Abnormal cortical bone morphology |
ORPHA:2512 |
| Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Hemolytic anemia, Gastritis, Joint stiffness, Splenomegaly, Xerostom... |
ORPHA:809 |
| Iron-Refractory Iron Deficiency Anemia |
|
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis |
OMIM:206200 |
| Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Joint hyperflexibility, Osteoporosis |
ORPHA:2787 |
| Gaucher Disease Type 1 |
|
Osteopenia, Increased bone mineral density, Pancytopenia, Hypersplenism, Thrombocytopenia, Spleno... |
ORPHA:77259 |
| Felty Syndrome |
|
Splenomegaly, Limitation of joint mobility, Osteolysis, Synovitis, Anemia, Arthritis, Neutropenia... |
ORPHA:47612 |
| Caffey Disease |
|
Cortical irregularity, Periosteal thickening of long tubular bones, Subperiosteal bone formation,... |
OMIM:114000 |
| Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
| Familial Hyperprolactinemia |
|
Osteopenia, Hemorrhagic ovarian cyst, Osteoporosis |
ORPHA:397685 |
| Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Recurrent fractures, Increased circulating gonadotropin level, Osteoporosis, Reduced bone mineral... |
ORPHA:2410 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Flexion contracture, Limitation of joint mobility, Osteolysis, High palate, Osteolytic defects of... |
ORPHA:90153 |
| Osteogenesis Imperfecta, Type Xxii |
|
Multiple prenatal fractures, Recurrent fractures, Thin bony cortex, Reduced bone mineral density |
OMIM:619795 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular sclerosis, Thickened cortex o... |
OMIM:144750 |
| Ciliary Dyskinesia, Primary, 21 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis |
OMIM:615294 |
| Proteus Syndrome |
|
Splenomegaly, Mandibular hyperostosis, Calvarial hyperostosis, Facial hyperostosis, Thin bony cortex |
OMIM:176920 |
| Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Recurrent lower respiratory tract infections, R... |
OMIM:616726 |
| Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
| Bare Lymphocyte Syndrome, Type I |
|
Nasal polyposis, Bronchiectasis, Bronchiolitis, Emphysema, Recurrent bronchitis |
OMIM:604571 |
| Ménétrier Disease |
|
Gastrointestinal hemorrhage, Helicobacter pylori infection, Abnormal gastric mucosa morphology, M... |
ORPHA:2494 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Recurrent respiratory infections, Atelectasis, Bronchiectasis |
OMIM:619466 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Hip contracture, Intestinal perforation, Hematemesis, Osteolysis inv... |
ORPHA:464321 |
| Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Ankylosis, Osteolysis |
ORPHA:659 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony ... |
OMIM:600081 |
| Fibrous Dysplasia Of Bone |
|
Thin bony cortex, Cortical irregularity, Osteomalacia, Elevated circulating growth hormone concen... |
ORPHA:249 |
| Grant Syndrome |
|
Joint hyperflexibility, Abnormal cortical bone morphology, Decreased skull ossification |
ORPHA:2097 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Abnormal cortical bone morphology, Recurrent fractures, Limitation of joint mobility |
ORPHA:1486 |
| Nk-Cell Enteropathy |
|
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Increased T cell count, ... |
ORPHA:263665 |
| Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
|
Osteopenia, Osteoporosis |
OMIM:615270 |
| Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Gastrointestinal hemorrhage, Splenomegaly, Osteoporosis, Malabsorption |
ORPHA:79301 |
| Hypogonadotropic Hypogonadism 18 With Or Without Anosmia |
|
Osteopenia, Osteoporosis |
OMIM:615267 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... |
OMIM:300835 |
| Gnathodiaphyseal Dysplasia |
|
Osteopenia, Osteomyelitis, Diaphyseal cortical sclerosis, Increased susceptibility to fractures |
OMIM:166260 |
| Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Osteoporosis |
OMIM:204730 |
| Nestor-Guillermo Progeria Syndrome |
|
Limited elbow movement, Joint stiffness, Flexion contracture, Osteoporosis, Osteolysis, Rib osteo... |
OMIM:614008 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... |
OMIM:300554 |
| H Syndrome |
|
Recurrent fractures, Microcytic anemia, Malabsorption, Osteolysis, Hepatosplenomegaly, Camptodact... |
ORPHA:168569 |
| Porphyria, Congenital Erythropoietic |
|
Osteopenia, Hemolytic anemia, Splenomegaly, Osteolysis, Increased fecal coproporphyrin 1, Patholo... |
OMIM:263700 |
| Familial Nasal Acilia |
|
Atelectasis, Recurrent upper respiratory tract infections, Abnormal respiratory motile cilium mor... |
ORPHA:922 |
| Osteopetrosis, Autosomal Dominant 1 |
|
Thickened cortex of long bones, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis |
OMIM:607634 |
| Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Osteopenia, Cryptorchidism, Osteoporosis, Cleft palate, Small pituitary gland, Decreased testicul... |
OMIM:614880 |
| Chromomycosis |
|
Ankylosis, Osteolysis |
ORPHA:182 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypophosph... |
OMIM:241530 |
| Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Emphysema |
OMIM:614100 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... |
ORPHA:289176 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Poikilocytosis, Fava bean-induced hemo... |
OMIM:300908 |
| Osteosclerosis With Ichthyosis And Fractures |
|
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures |
OMIM:166740 |
| Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of distal phalanges (feet)... |
ORPHA:90154 |
| Oculogastrointestinal Muscular Dystrophy |
|
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... |
ORPHA:1876 |
| Birt-Hogg-Dubé Syndrome |
|
Emphysema, Pneumothorax, Pulmonary sequestration |
ORPHA:122 |
| Familial Dysautonomia |
|
Gastroesophageal reflux, Recurrent fractures, Osteolysis |
ORPHA:1764 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Secondary ... |
OMIM:264700 |
| Idiopathic Hypercalciuria |
|
Osteopenia, Osteoporosis |
ORPHA:2197 |
| Kaposiform Lymphangiomatosis |
|
Pancreatic cysts, Splenomegaly, Fractures of the long bones, Osteolysis, Hepatosplenomegaly, Anem... |
ORPHA:464329 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Secondary ... |
OMIM:277440 |
| Intermediate Osteopetrosis |
|
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Thrombocytope... |
ORPHA:210110 |
| Alpha-1-Antitrypsin Deficiency |
|
Emphysema |
ORPHA:60 |
| Whim Syndrome 1 |
|
Recurrent upper respiratory tract infections, Bronchiectasis, Neutropenia, Abnormality of female ... |
OMIM:193670 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
| Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Emphysema |
OMIM:618307 |
| Papillon-Lefèvre Syndrome |
|
Recurrent cutaneous abscess formation, Liver abscess, Osteolysis |
ORPHA:678 |
| Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome... |
ORPHA:71275 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Osteomalacia, Delayed epiphyseal ossification, Rickets, Increased susceptibility to fractures, Sp... |
ORPHA:289157 |
| Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Joint hypermobility, Recurrent fractures, Generalized osteoporosis, Thin bony cortex |
OMIM:617952 |
| Respiratory Distress Syndrome In Premature Infants |
|
Atelectasis, Pulmonary edema |
OMIM:267450 |
| Dent Disease 1 |
|
Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... |
OMIM:300009 |
| Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Thin bony cortex |
OMIM:619638 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Poikilocytosis,... |
ORPHA:98870 |
| Gaucher Disease Type 3 |
|
Increased bone mineral density, Pancytopenia, Splenomegaly, Osteolysis, Increased susceptibility ... |
ORPHA:77261 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatomegaly, Recurrent respiratory infections, Hemolytic anemia, Reticulocytosis, Anisocytosis, ... |
OMIM:618278 |
| Idiopathic Juvenile Osteoporosis |
|
Osteoporosis, Recurrent fractures |
ORPHA:85193 |
| Reynolds Syndrome |
|
Abnormal gastric mucosa morphology, Xerostomia, Arthritis, Gastroesophageal reflux, Dysphagia |
ORPHA:779 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Wide anterior fontanel, High palate, Thin bony cortex |
ORPHA:85184 |
| Weismann-Netter Syndrome |
|
Abnormal cortical bone morphology, Anemia |
ORPHA:3344 |
| Juvenile Paget Disease |
|
Cranial hyperostosis, Osteoporosis, Recurrent fractures, Coarse metaphyseal trabecularization |
ORPHA:2801 |
| Cutis Laxa-Marfanoid Syndrome |
|
Emphysema |
ORPHA:171719 |
| Hepatoerythropoietic Porphyria |
|
Osteopenia, Hemolytic anemia, Splenomegaly, Osteoporosis, Osteolysis, Increased fecal porphyrin, ... |
ORPHA:95159 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Increased bone mineral density, Hyperparathyroidism, Cortical sclerosis, Osteopetrosis, Pathologi... |
OMIM:620366 |
| Familial Spontaneous Pneumothorax |
|
Pneumothorax, Abnormal pleura morphology |
ORPHA:2903 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Intestinal polyposis, Osteolysis, Cleft palate, Acute lymphoblastic leukemia, Colon cancer, Stoma... |
ORPHA:1052 |
| Occipital Horn Syndrome |
|
Osteopenia, Osteomalacia, Hiatus hernia, High, narrow palate, Osteoporosis, Osteolysis, Rickets, ... |
ORPHA:198 |
| Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Osteoporosis, Decreased testicular size, Cleft palate |
OMIM:614838 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Anisocytosis |
OMIM:604273 |
| Orotic Aciduria |
|
Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemi... |
OMIM:258900 |
| Gaucher Disease |
|
Osteopenia, Increased bone mineral density, Pancytopenia, Osteomyelitis, Recurrent fractures, Joi... |
ORPHA:355 |
| Dubin-Johnson Syndrome |
|
Abnormal gastric mucosa morphology |
ORPHA:234 |
| Hajdu-Cheney Syndrome |
|
Osteopenia, Recurrent fractures, Intestinal malrotation, Splenomegaly, Osteoporosis, Osteolysis, ... |
ORPHA:955 |
| Zygomycosis |
|
Gastrointestinal hemorrhage, Brain abscess, Gastritis, Hematemesis, Osteolysis, Enterocolitis, He... |
ORPHA:73263 |
| Congenital Erythropoietic Porphyria |
|
Osteopenia, Hemolytic anemia, Reticulocytosis, Anisocytosis, Increased stool urobilinogen concent... |
ORPHA:79277 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Osteopenia, Osteoporosis, Increased susceptibility to fractures |
OMIM:612287 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Splenomegaly, Abnormal trabecular bone morphology, Osteopetrosis, Anemia |
OMIM:612301 |
| Bruck Syndrome 1 |
|
Joint laxity, Hip contracture, Ankle flexion contracture, Osteoporosis, Elbow flexion contracture... |
OMIM:259450 |
| Alpha-Mannosidosis, Infantile Form |
|
Osteopenia, Joint laxity, Pancytopenia, Craniosynostosis, Joint stiffness, Cranial hyperostosis, ... |
ORPHA:309282 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Refractory anemia, Myelofibrosis, Increased bone mineral density, Thrombocytopenia, Leukopenia, H... |
OMIM:231095 |
| Idiopathic Bronchiectasis |
|
Respiratory tract infection, Emphysema, Bronchiectasis, Acute infectious pneumonia, Recurrent low... |
ORPHA:60033 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Poikilocytosis, Anemia |
OMIM:616959 |
| Erdheim-Chester Disease |
|
Increased bone mineral density, Osteomyelitis, Osteolysis, Anemia |
ORPHA:35687 |
| Calvarial Doughnut Lesions With Bone Fragility |
|
Osteopenia, Osteoporosis, Recurrent fractures |
OMIM:126550 |
| Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification |
|
Emphysema |
OMIM:210050 |
| Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Bilateral cryptorchidism, Bone cyst, Flexion contracture, Osteolysis, Anemia |
ORPHA:3042 |
| Gm1-Gangliosidosis, Type Ii |
|
Protruding tongue, Joint stiffness, Splenomegaly, Sea-blue histiocytosis, Dysphagia, Thin bony co... |
OMIM:230600 |
| Multiple Endocrine Neoplasia Type 1 |
|
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Reduced bone mineral d... |
ORPHA:652 |
| Incontinentia Pigmenti |
|
Eosinophilia, Camptodactyly of finger, Supernumerary nipple, Osteolysis, Spina bifida occulta |
ORPHA:464 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Sclerosis of mi... |
ORPHA:85188 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Osteopenia, Osteoporosis, Increased susceptibility to fractures |
OMIM:612286 |
| Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Osteomyelitis, Pigment gallstones, Microcytic anemia, Abnormal... |
ORPHA:232 |
| Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
| Rothmund-Thomson Syndrome Type 2 |
|
Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Cryptorchidism, Finger symphala... |
ORPHA:221016 |
| Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Absence of intrinsic factor, Megaloblastic anemia |
OMIM:243320 |
| Encephalocraniocutaneous Lipomatosis |
|
Craniofacial hyperostosis, Bone cyst, Osteolysis |
ORPHA:2396 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Wide anterior fontanel, Abnormal cortical bone morphology, Cholelithiasis |
OMIM:614886 |
| Melnick-Needles Syndrome |
|
Craniofacial hyperostosis, Abnormal cortical bone morphology, Osteolytic defects of the phalanges... |
ORPHA:2484 |
| Ovarian Dysgenesis 8 |
|
Osteoporosis, Elevated circulating follicle stimulating hormone level, Elevated circulating lutei... |
OMIM:618187 |
| Allergic Bronchopulmonary Aspergillosis |
|
Emphysema, Bronchiectasis |
ORPHA:1164 |
| Bruck Syndrome |
|
Arthrogryposis multiplex congenita, Osteoporosis, Recurrent fractures, Joint stiffness |
ORPHA:2771 |
| Cryptococcosis |
|
Lymphoid leukemia, Osteolysis, Osteomyelitis |
ORPHA:1546 |
| Sarcoidosis, Susceptibility To, 2 |
|
Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morphology, Pleural effusion, Pulmo... |
OMIM:612387 |
| Rothmund-Thomson Syndrome |
|
Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Reduced bone mineral density, I... |
ORPHA:2909 |
| Thrombocytopenia 6 |
|
Myelofibrosis, Osteoporosis, Thrombocytopenia |
OMIM:616937 |
| Chikungunya |
|
Joint stiffness, Periostitis, Osteolysis, Synovitis, Enthesitis, Arthritis, Stiff interphalangeal... |
ORPHA:324625 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Recurrent fractures, Reduced circulating prolactin concentration, Osteoporosis, Reduced bone mine... |
ORPHA:2235 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Flexion contracture, High palate, Progressive clavicular acroosteolysis, Osteolytic defects of th... |
OMIM:608612 |
| Refractory Celiac Disease |
|
Normocytic anemia, Macrocytic anemia, Villous atrophy, Microcytic anemia, Malabsorption, Increase... |
ORPHA:398063 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Respiratory tract infection, Hypersensitivity pneumonitis, Bronchiectasis, Honeycomb lung, Chroni... |
ORPHA:79127 |
| Bronchopulmonary Dysplasia |
|
Atelectasis, Abnormal lung morphology, Emphysema, Pulmonary sequestration |
ORPHA:70589 |
| Rothmund-Thomson Syndrome Type 1 |
|
Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Cryptorchidism, Finger symphala... |
ORPHA:221008 |
| Chime Syndrome |
|
Osteolysis, Cleft palate, Acute leukemia |
ORPHA:3474 |
| Dent Disease |
|
Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... |
ORPHA:1652 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Osteopenia, Joint stiffness, Flexion contracture, Elbow flexion contracture, Progressive clavicul... |
OMIM:248370 |
| Stüve-Wiedemann Syndrome |
|
Osteopenia, Flexion contracture of finger, Recurrent fractures, Camptodactyly of finger, Flexion ... |
ORPHA:3206 |
| Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
| Osteogenesis Imperfecta, Type X |
|
Osteopenia, Joint laxity, Pyloric stenosis, Generalized joint laxity, Decreased calvarial ossific... |
OMIM:613848 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion contractu... |
OMIM:259600 |
| Hyperzincemia With Functional Zinc Depletion |
|
Osteoporosis |
OMIM:601979 |
| 46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Hypoplasia of the uterus, Sex reversal, Gonadal dysgenesis, Exaggerated ... |
OMIM:612965 |
| Beta-Thalassemia Intermedia |
|
Osteopenia, Increased HbA2 hemoglobin, Hypoparathyroidism, Extramedullary hematopoiesis, Anemia o... |
ORPHA:231222 |
| Coccidioidomycosis |
|
Osteomyelitis, Eosinophilia, Abscess, Abnormality of the spleen, Osteolysis, Arthritis, Granuloma |
ORPHA:228123 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Malabsorption, Osteoarthritis, Limitation of joint mobility, Gastrointestinal dysmotility, Osteol... |
ORPHA:285 |
| 46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
| Leydig Cell Hypoplasia |
|
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... |
ORPHA:755 |
| 46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Vanishing testis, Aplasia of the uterus, Gonadal dysgenesis with fem... |
OMIM:273250 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Hyperextensibility of the finger joints, Recurrent fractures, High, narrow palate, Cryptorchidism... |
OMIM:309583 |
| Infant Acute Respiratory Distress Syndrome |
|
Respiratory tract infection, Atelectasis, Pneumonia, Pulmonary edema |
ORPHA:70587 |
| Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Pancolitis, Protein-losing enteropathy, Abnormal intestine morphology, Ile... |
OMIM:619079 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Osteopenia, Macrocytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Celiac disease, X... |
ORPHA:227990 |
| Immunodeficiency 57 With Autoinflammation |
|
Gastritis, Perianal abscess, T lymphocytopenia, Inflammation of the large intestine, B lymphocyto... |
OMIM:618108 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Osteopenia, Macrocytic anemia, Atrophic gastritis, Autoimmune hypoparathyroidism, Autoimmune thro... |
ORPHA:227982 |
| Intrinsic Factor Deficiency |
|
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo... |
OMIM:261000 |
| Fanconi Renotubular Syndrome 5 |
|
Emphysema, Pulmonary fibrosis, Lung adenocarcinoma |
OMIM:618913 |
| Familial Osteodysplasia, Anderson Type |
|
Abnormal cortical bone morphology, Recurrent fractures, Increased susceptibility to fractures |
ORPHA:2769 |
| Serrated Polyposis Syndrome |
|
Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic poly... |
ORPHA:157798 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Testicular dysgenesis, Hypoplasia of the ... |
ORPHA:168563 |
| Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Stomach cancer, Atrophic gastritis, Cleft palate |
OMIM:137215 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Increased bone mineral density, High, narrow palate, Cryptorchidism, Cranial hyperostosis, Limita... |
ORPHA:2658 |
| Hydatidiform Mole |
|
Enlarged uterus, Anemia |
ORPHA:99927 |
| 17Q11 Microdeletion Syndrome |
|
Osteopenia, Gastrointestinal stroma tumor, Osteoporosis, Osteolysis, Pheochromocytoma, Leukemia, ... |
ORPHA:97685 |
| Williams Syndrome |
|
Osteopenia, Joint laxity, Increased bone mineral density, Colonic diverticula, Peptic ulcer, Join... |
ORPHA:904 |
| Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Bilateral cryptorchidism, P... |
ORPHA:90797 |
| Complete Androgen Insensitivity Syndrome |
|
Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidism, Blind vagina, ... |
ORPHA:99429 |
| Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Hypoplasia of the uterus, Leukopenia, Anemia, Thrombocytopenia |
OMIM:619151 |
| Alpha-1-Antitrypsin Deficiency |
|
Splenomegaly, Gastric varix, Hepatocellular carcinoma |
OMIM:613490 |
| Spondyloocular Syndrome |
|
Osteopenia, Unilateral cryptorchidism, Duodenal ulcer, Thin bony cortex |
OMIM:605822 |
| Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:618078 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Cryptorchidism, Abnormal stomach morphology, Testicular seminoma, Acute leukemia |
ORPHA:281090 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent bronchopulmonary infections, Emphysema, Recurrent pneumonia, Bronchiectasis |
OMIM:242700 |
| Systemic Sclerosis |
|
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Osteomyelitis, Ba... |
ORPHA:90291 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Autoimmune hemolytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Splenomegaly, Lymph... |
OMIM:616100 |
| Weill-Marchesani Syndrome 1 |
|
Narrow palate, Thin bony cortex, Joint stiffness |
OMIM:277600 |
| 46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... |
OMIM:233420 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Joint laxity, Pancytopenia, Thin bony cortex, Intestinal malrotation, Rickets, Esopha... |
OMIM:613658 |
| Diethylstilbestrol Syndrome |
|
Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... |
ORPHA:1916 |
| Ciliary Dyskinesia, Primary, 1 |
|
Nasal polyposis, Pneumonia, Atelectasis, Absent outer dynein arms, Bronchiectasis, Recurrent bron... |
OMIM:244400 |
| Pancreatic Triacylglycerol Lipase Deficiency |
|
Osteomalacia, Osteoporosis, Rickets, Iron deficiency anemia, Colitis, Steatorrhea |
ORPHA:309031 |
| Oculodentodigital Dysplasia |
|
Camptodactyly of finger, Cranial hyperostosis, Cleft palate, Hyperostosis, Abnormal cortical bone... |
ORPHA:2710 |
| Premature Ovarian Failure 7 |
|
Hypoplasia of the uterus, Gonadal dysgenesis, Clitoral hypertrophy |
OMIM:612964 |
| Ovarian Dysgenesis 2 |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism |
OMIM:300510 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Emphysema, Pulmonary fibrosis |
OMIM:620365 |
| Aspartylglucosaminuria |
|
Joint stiffness, Malabsorption, Splenomegaly, Macroglossia, Arthritis, Macroorchidism, Abnormal c... |
ORPHA:93 |
| Faciocardiomelic Syndrome |
|
Osteopenia, Thin bony cortex |
OMIM:612731 |
| Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus |
OMIM:608996 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Autoimmune hemolytic anemia, Thrombocytopenia, Atrophic gastritis |
OMIM:616576 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Decreased proportion of naive T cells, Osteomyelitis, Osteomalacia, Duodenal ulc... |
OMIM:619381 |
| 46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... |
OMIM:278850 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Hypoplasia of the ovary,... |
OMIM:614841 |
| Mullerian Aplasia And Hyperandrogenism |
|
Aplasia of the fallopian tube, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the... |
OMIM:158330 |
| Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome |
|
Abnormal erythrocyte morphology, Gastritis, Folate-unresponsive megaloblastic anemia, Megaloblast... |
ORPHA:2575 |
| Frank-Ter Haar Syndrome |
|
Osteopenia, Wide anterior fontanel, Osteoporosis, High palate, Camptodactyly, Cortical irregularity |
OMIM:249420 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Autoimmune hemolytic anemia, Atrophic gastritis, Chronic neutropenia, Villous atrop... |
OMIM:614700 |
| Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Hypoplasia o... |
ORPHA:325124 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Perianal abscess, Iron deficiency anemia, Arthritis, Inflammation of the large... |
OMIM:301074 |
| Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Iron deficiency anemia, Esophageal ulceration, Gastric ulcer, Duodenal ulcer |
OMIM:618372 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Azoospermia, Micropenis,... |
OMIM:614837 |
| Wolfram Syndrome |
|
Gastrointestinal hemorrhage, Malabsorption, Joint stiffness, Gastric ulcer, Anemia |
ORPHA:3463 |
| Weill-Marchesani Syndrome 2 |
|
Joint stiffness, Elbow flexion contracture, Narrow palate, High palate, Flexion contracture of to... |
OMIM:608328 |
| Perrault Syndrome 3 |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism |
OMIM:614129 |
| Perrault Syndrome 6 |
|
Hypoplasia of the uterus, Streak ovary |
OMIM:617565 |
| Arteriosclerosis, Severe Juvenile |
|
Gastric ulcer, Anemia |
OMIM:208060 |
| Osteogenesis Imperfecta |
|
Osteopenia, Intestinal obstruction, Recurrent fractures, Joint hypermobility, Fractures of the lo... |
ORPHA:666 |
| Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Hypersplenism, Splenomegaly, Esophageal varix, Anemia, Leukopenia, G... |
ORPHA:64743 |
| Meckel Syndrome 14 |
|
Ambiguous genitalia, Pneumothorax, Pulmonary hypoplasia, Aplasia of the uterus |
OMIM:619879 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Autoimmune hemolytic anemia, Atrophic gastritis, Pure red cell aplasia, Autoimmune thrombocytopen... |
ORPHA:436159 |
| Microphthalmia, Syndromic 9 |
|
Agenesis of pulmonary vessels, Cryptorchidism, Alveolar capillary dysplasia, Multilobulated splee... |
OMIM:601186 |
| Vascular Ehlers-Danlos Syndrome |
|
High, narrow palate, Osteoarthritis, Cryptorchidism, Osteolysis, Joint hyperflexibility, Gastroin... |
ORPHA:286 |
| Atypical Werner Syndrome |
|
Sclerosis of hand bone, Increased bone mineral density, Limitation of joint mobility, Osteoporosi... |
ORPHA:79474 |
| Renal And Mullerian Duct Hypoplasia |
|
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus |
OMIM:266810 |
| Pseudoaminopterin Syndrome |
|
Limited elbow movement, Sagittal craniosynostosis, Asplenia, Cryptorchidism, High palate, Patchy ... |
ORPHA:221120 |
| Cap Polyposis |
|
Hematochezia, Atrophic gastritis, Colorectal polyposis |
ORPHA:160148 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth... |
OMIM:130050 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Aplasia of the vagina, Pulmonary hypoplasia, Aplasia of the uterus, Absent external genitalia |
OMIM:271520 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Hypoplasia of the uterus, Azoospermia, Bicornuate uterus |
OMIM:601076 |
| Ovarian Dysgenesis 7 |
|
Hypoplasia of the uterus |
OMIM:618117 |
| Premature Ovarian Failure 13 |
|
Hypoplasia of the uterus |
OMIM:617442 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Autoimmune hemolytic anemia, Osteomyelitis, Gastritis, Autoimmune thrombocytopenia, Malabsorption... |
ORPHA:37042 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Hypospadias, Precocious puberty in females, Bilateral cryptorchidism, Ovarian cyst... |
ORPHA:90793 |
| Premature Ovarian Failure 6 |
|
Hypoplasia of the uterus, Streak ovary |
OMIM:612310 |
| Craniotubular Dysplasia, Ikegawa Type |
|
Sclerosis of skull base, Thin bony cortex |
OMIM:619727 |
| Bronchogenic Cyst |
|
Abnormal esophagus morphology, Dysphagia, Abnormal stomach morphology |
ORPHA:2357 |
| Satoyoshi Syndrome |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the ovary, Abnormality of the u... |
ORPHA:3130 |
| Ovarian Dysgenesis 5 |
|
Hypoplasia of the uterus |
OMIM:617690 |
| Gastritis, Familial Giant Hypertrophic |
|
Giant hypertrophic gastritis |
OMIM:137280 |
| Premature Ovarian Failure 18 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary |
OMIM:619203 |
| Hutchinson-Gilford Progeria Syndrome |
|
Limitation of movement at ankles, Joint stiffness, Limited wrist movement, Osteoarthritis, Limita... |
ORPHA:740 |
| Autoimmune Lymphoproliferative Syndrome |
|
Reticulocytosis, Autoimmune hemolytic anemia, Gastritis, Eosinophilia, Autoimmune thrombocytopeni... |
ORPHA:3261 |
| Ovarian Dysgenesis 9 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary |
OMIM:619665 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hypoplasia of the uterus, Aplasia of the vagina |
OMIM:277000 |
| Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypoplasia of the uterus, Hypogonadotropic hypogonadism |
OMIM:614842 |
| Lumbar Syndrome |
|
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen... |
ORPHA:83628 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male pseudohermaphr... |
ORPHA:168558 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male pseudohermaphr... |
ORPHA:289548 |
| Hardikar Syndrome |
|
Cleft soft palate, Intestinal malrotation, Hypersplenism, Splenomegaly, Celiac disease, Hematemes... |
OMIM:301068 |
| Cardiac-Urogenital Syndrome |
|
Bifid scrotum, Accessory spleen, Ambiguous genitalia, Penoscrotal hypospadias, Unilateral cryptor... |
OMIM:618280 |
| Wolfram Syndrome 2 |
|
Gastric ulcer |
OMIM:604928 |
| Müllerian Aplasia And Hyperandrogenism |
|
Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary |
ORPHA:247768 |
| Perrault Syndrome 4 |
|
Hypoplasia of the uterus, Bicornuate uterus, Hypoplasia of the ovary |
OMIM:615300 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ... |
ORPHA:432 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Aplasia of the uterus, Aplasia of the vagina, Uterus didelphys, Septate vagina |
OMIM:146255 |
| 46,Xy Sex Reversal 4 |
|
Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hypoplasia of the uterus, Gonadal dysgen... |
OMIM:154230 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Enlarged polycystic ovarie... |
ORPHA:90796 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Pancytopenia, Abnormality of the spleen, Splenomegaly, Esophageal varix, Hepatosplenomegaly, Anem... |
ORPHA:2072 |
| Townes-Brocks Syndrome 2 |
|
Rectovaginal fistula, Hypospadias, Bifid uterus |
OMIM:617466 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Intestinal malrotation, Hiatus hernia, Abnormality of the spleen, Esophageal atresia, Rectal atre... |
ORPHA:2538 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Thrombocytopenia, Aplasia of the uterus |
ORPHA:3320 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas... |
OMIM:202010 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Hypoplasia of the vagina, Aplasia of the uterus |
ORPHA:3109 |
| Oeis Complex |
|
Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal fistula, Amb... |
OMIM:258040 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Hypoplasia of the uterus, Vaginal atresia |
OMIM:617914 |
| Meckel Syndrome 12 |
|
Hypoplasia of the uterus, Vaginal atresia |
OMIM:616258 |
| Syndromic Diarrhea |
|
Villous atrophy, Gastritis, Increased mean platelet volume, Splenomegaly, Colitis, Hypoplasia of ... |
ORPHA:84064 |
| Coffin-Siris Syndrome 1 |
|
Joint laxity, Duodenal ulcer, Intestinal malrotation, Cryptorchidism, Cleft palate, Gastric ulcer... |
OMIM:135900 |
| Estrogen Resistance |
|
Hypoplasia of the uterus, Polycystic ovaries |
OMIM:615363 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Aplasia of the uterus, Vaginal atresia, Uterus didelphys, Septate vagina |
ORPHA:2237 |
| Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Hypoplasia of the uterus |
ORPHA:785 |
| Metachromatic Leukodystrophy |
|
Abnormal stomach morphology, Neoplasm of the gallbladder, Abnormal gallbladder morphology, Abnorm... |
ORPHA:512 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Abnormal external genitalia, Hypogonadotropic hypogonadism, Precocious pubert... |
ORPHA:90794 |
| Fanconi Anemia, Complementation Group L |
|
Anemia, Micropenis, Aplasia of the uterus |
OMIM:614083 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Eosinophilia, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Aplasia of the uterus, Anemia |
OMIM:274000 |
| Popliteal Pterygium Syndrome |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... |
OMIM:119500 |
| Congenital Tracheal Stenosis |
|
Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal stenosis, Meckel diverticulum, A... |
ORPHA:141127 |
| Pontocerebellar Hypoplasia Type 7 |
|
Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi... |
ORPHA:284339 |
| Hydrolethalus Syndrome 1 |
|
Accessory spleen, Hypospadias, Bifid uterus, Abnormal lung lobation, Abnormal vagina morphology |
OMIM:236680 |
| Chromosome 17Q12 Deletion Syndrome |
|
Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus |
OMIM:614527 |
| Phocomelia, Schinzel Type |
|
Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus |
ORPHA:2879 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Aplasia of the vagina, Aplasia of the uterus |
ORPHA:457284 |
| Ethylene Glycol Poisoning |
|
Gastritis |
ORPHA:31826 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Abnormal reproductive system morphology, Bifid uterus |
ORPHA:1521 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hypospadias, Ovotestis, Hypoplasia of the uterus, Chordee, Micropenis, Clitoral hypertrophy |
OMIM:309801 |
| Neu-Laxova Syndrome 1 |
|
Cryptorchidism, Pulmonary hypoplasia, Bifid uterus |
OMIM:256520 |
| Woodhouse-Sakati Syndrome |
|
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Hypoplasia of the fallopian tube, ... |
OMIM:241080 |
| Woodhouse-Sakati Syndrome |
|
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Abnormal spermatogenesi... |
ORPHA:3464 |
| Limb-Mammary Syndrome |
|
Aplasia of the uterus, Aplasia of the ovary |
ORPHA:69085 |
| Exstrophy-Epispadias Complex |
|
Bifid scrotum, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal transposition, Ab... |
ORPHA:322 |
| Renal Cysts And Diabetes Syndrome |
|
Hypospadias, Hypoplasia of the uterus, Bicornuate uterus, Epididymal cyst, Atretic vas deferens |
OMIM:137920 |
| Wolf-Hirschhorn Syndrome |
|
Accessory spleen, Hypospadias, Precocious puberty, Cryptorchidism, Aplasia of the uterus |
OMIM:194190 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Bifid scrotum, Fused labia majora, Small scrotum, Hypospadias, Cryptorchidism, Vesicovaginal fist... |
OMIM:201750 |
| Okamoto Syndrome |
|
Splenomegaly, Bifid uterus |
ORPHA:2729 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Aplasia of the uterus |
OMIM:276820 |
| Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Rectoperineal fistula, Hypospadias, Bifid uterus, Cryptorchidism, Rectovaginal fis... |
OMIM:107480 |
| Pallister-Killian Syndrome |
|
Small scrotum, Hypospadias, Cryptorchidism, Hypoplastic labia majora, Aplasia of the upper vagina... |
OMIM:601803 |
| Loeys-Dietz Syndrome |
|
Uterine rupture |
ORPHA:60030 |
| Norrie Disease |
|
Cryptorchidism, Uterine rupture |
ORPHA:649 |
